1.2 29:01:2016 16:27 OBO-Edit 2.3.1 This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/. disease_ontology elvira definition DO_MGI_slim DO cancer slim GOLD NCIt TopNodes_DOcancerslim gram-negative bacterial infectious disease gram-positive bacterial infectious disease sexually transmitted infectious disease tick-borne infectious disease zoonotic infectious disease subset_property has_alternative_id database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym in_subset complicated_by complicated_by disease_ontology composed_of Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types. composed_of disease_ontology Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types. DO:lh derives_from Type of tissue or cell/the source of the material. derives_from disease_ontology DO:lh Type of tissue or cell/the source of the material. has_material_basis_in disease_ontology has_material_basis_in has_symptom disease_ontology has_symptom inheres_in disease_ontology inheres_in is_a disease_ontology is_a located_in Anatomical location. disease_ontology located_in Anatomical location. DO:lh occurs_with disease_ontology occurs_with part_of disease_ontology part_of realized_by disease_ontology realized_by realized_by_supression_with disease_ontology realized_by_supression_with results_in Development process/cause and effect/disease progress,process. disease_ontology results_in DO:lh Development process/cause and effect/disease progress,process. results_in_formation_of Formation of structure,cancer,etc./cause and effect. disease_ontology results_in_formation_of DO:lh Formation of structure,cancer,etc./cause and effect. transmitted_by Pathogen is transmitted. disease_ontology transmitted_by DO:lh Pathogen is transmitted. angiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces. DOID:0001816 DOID:267 DOID:4508 MSH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2015_03_01:33176006 SNOMEDCT_US_2015_03_01:39000009 SNOMEDCT_US_2015_03_01:403977003 UMLS_CUI:C0018923 UMLS_CUI:C0854893 disease_ontology hemangiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces. url:http://emedicine.medscape.com/article/276512-overview url:http://en.wikipedia.org/wiki/Hemangiosarcoma url:http://www.ncbi.nlm.nih.gov/pubmed/23327728 pterygium 2010-06-30T02:44:30Z DOID:0002116 ICD10CM:H11.0 ICD10CM:H11.00 ICD10CM:H11.009 ICD9CM:372.4 ICD9CM:372.40 MSH:D011625 SNOMEDCT_US_2015_03_01:155165000 SNOMEDCT_US_2015_03_01:193879003 SNOMEDCT_US_2015_03_01:193884009 SNOMEDCT_US_2015_03_01:77489003 UMLS_CUI:C0033999 disease_ontology laronhughes disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules. DOID:0014667 ICD10CM:E88.9 ICD9CM:277.9 MSH:D008659 NCI:C3235 SNOMEDCT_US_2015_03_01:154733004 SNOMEDCT_US_2015_03_01:190961002 SNOMEDCT_US_2015_03_01:267456000 SNOMEDCT_US_2015_03_01:30390004 SNOMEDCT_US_2015_03_01:75934005 UMLS_CUI:C0025517 disease_ontology metabolic disease SNOMEDCT_2005_07_31:75934005 metabolic disease A disease that involving errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ Actinomadura madurae infectious disease DOID:0050001 disease_ontology true Actinomadura pelletieri infectious disease DOID:0050002 disease_ontology true Streptomyces somaliensis infectious disease DOID:0050003 disease_ontology true seminal vesicle acute gonorrhea DOID:0050004 SNOMEDCT_US_2015_03_01:301990003 UMLS_CUI:C0578661 disease_ontology cutaneous strongyloidiasis A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas. DOID:0050007 disease_ontology true A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas. url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm intestinal strongyloidiasis A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. DOID:0050009 disease_ontology true A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh Mansonella perstans infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. DOID:0050010 disease_ontology true A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Mansonella streptocerca infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. DOID:0050011 disease_ontology true A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. Chikungunya fever DOID:0050012 disease_ontology A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. url:http://en.wikipedia.org/wiki/Chikungunya_virus carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. DOID:0050013 disease_ontology An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html epizootic hemorrhagic disease A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. DOID:0050014 EHD disease_ontology true A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf Rocio virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. DOID:0050015 disease_ontology true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628 url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf Ehrlichia ewingii ehrlichiosis DOID:0050024 disease_ontology true human granulocytic anaplasmosis An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. DOID:0050021 DOID:0050022 DOID:0050025 HGE disease_ontology human granulocytic ehrlichiosis An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview human monocytic ehrlichiosis An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. DOID:0050026 DOID:14091 Ehrlichiosis chafeensis disease_ontology An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism. DOID:0050032 disease_ontology An acquired metabolic disease that is characterized by abnormal mineral metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html African tick-bite fever A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. DOID:0050034 DOID:0050035 DOID:0050036 Rickettsia africae spotted fever disease_ontology south african tick-bite fever A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html Astrakhan spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. DOID:0050041 disease_ontology A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false url:http://www.cdc.gov/otherspottedfever/index.html Indian tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. DOID:0050042 disease_ontology A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html Israeli tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. DOID:0050043 Israeli spotted fever disease_ontology A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html Far Eastern spotted fever A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. DOID:0050046 Rickettsia heilongjiangensis spotted fever disease_ontology A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. url:http://www.cdc.gov/otherspottedfever/index.html url:www.cdc.gov/eid/content/16/8/pdfs/1306.pdf Flinders Island spotted fever A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. DOID:0050047 DOID:0050048 FISF Thai tick typhus disease_ontology A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. url:http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf url:http://www.cdc.gov/otherspottedfever/index.html Japanese spotted fever A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. DOID:0050049 DOID:0050050 Rickettsia japonica spotted fever disease_ontology oriental spotted fever A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. url:http://www.cdc.gov/otherspottedfever/index.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf Rickettsia parkeri spotted fever A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. DOID:0050051 disease_ontology maculatum infection A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri url:http://www.cdc.gov/otherspottedfever/index.html Rocky Mountain spotted fever A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. Brazillian spotted Choix DOID:0050052 DOID:0050056 DOID:1708 Exanthematic typhus of Sao Paulo Fiebre maculosa Fiebre manchada Sao Paulo typhus So Paulo fever Tick typhus Tobia fever disease_ontology A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 url:http://www.cdc.gov/otherspottedfever/index.html Rickettsia honei spotted fever DOID:0050053 disease_ontology true oropharyngeal anthrax A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. DOID:0050059 disease_ontology A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. url:http://emedicine.medscape.com/article/212127-overview#a0104 erysipeloid A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. DOID:0050061 disease_ontology A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. url:http://emedicine.medscape.com/article/1054170-overview url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001656/ abortive plague DOID:0050063 disease_ontology true cutaneous listeriosis DOID:0050065 disease_ontology true Listeria meningoencephalitis DOID:0050066 disease_ontology true Listeria septicaemia DOID:0050067 disease_ontology true pestis minor A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration. DOID:0050068 disease_ontology A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration. url:www.cfsph.iastate.edu/Factsheets/pdfs/plague.pdf Yersinia pestis infectious disease DOID:0050069 disease_ontology true plague meningitis DOID:0050070 disease_ontology true adiaspiromycosis A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. DOID:0050072 disease_ontology A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. url:http://www.chestjournal.org/content/97/5/1171.abstract url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. DOID:0050073 disease_ontology An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm tonsillar aspergillosis An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. DOID:0050074 disease_ontology true An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. url:http://www.ncbi.nlm.nih.gov/pubmed/792373 pulmonary blastomycosis A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules. DOID:0050075 DOID:0050076 DOID:0050077 disease_ontology true A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules. url:http://chestjournal.chestpubs.org/content/121/3/677.full cervix tuberculosis DOID:0050078 disease_ontology true niacin deficiency DOID:0050079 disease_ontology true iodine deficiency DOID:0050080 disease_ontology true hepatic Torque teno virus infectious disease A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. DOID:0050081 DOID:0050082 TT virus liver infection Transfussion-transmitted virus liver infection disease_ontology human circovirus infectious disease true A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. url:https://www.doria.fi/bitstream/handle/10024/36074/humantor.pdf?sequence=1 Keshan disease DOID:0050083 disease_ontology rhinotracheitis An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. DOID:0050084 Feline viral rhinotracheitis disease_ontology feline coryza feline influenza An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis entomophthoromycosis A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. DOID:0050085 disease_ontology true A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm cutaneous mucormycosis An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. DOID:0050086 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm url:http://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf gastrointestinal mucormycosis A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. DOID:0050088 disease_ontology true A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. url:http://www.ncbi.nlm.nih.gov/pubmed/16020690 pulmonary mucormycosis An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. DOID:0050089 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 rhinocerebral mucormycosis An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. DOID:0050090 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html disseminated paracoccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. DOID:0050091 disease_ontology true A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ pulmonary paracoccidioidomycosis A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. DOID:0050092 disease_ontology true A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ disseminated sporotrichosis A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. DOID:0050093 disease_ontology true A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. url:http://en.wikipedia.org/wiki/Sporotrichosis lymphocutaneous sporotrichosis A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. DOID:0050094 disease_ontology true A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. url:http://emedicine.medscape.com/article/228723-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ pulmonary sporotrichosis A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. DOID:0050095 disease_ontology true A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. url:http://en.wikipedia.org/wiki/Sporotrichosis tinea barbae A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. DOID:0050096 dermatophytosis of beard disease_ontology A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. url:http://emedicine.medscape.com/article/1091252-overview url:http://www.doctorfungus.org/mycoses/human/other/Tinea_barbae.htm ectothrix infectious disease A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. DOID:0050097 disease_ontology A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. url:http://emedicine.medscape.com/article/1091351-overview url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm Microsporum audouinii tinea capitis An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. DOID:0050098 disease_ontology true An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html Microsporum canis tinea capitis An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. DOID:0050099 disease_ontology true An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html Microsporum distortum tinea capitis An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. DOID:0050100 disease_ontology true An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html Microsporum ferrugineum tinea capitis An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. DOID:0050101 disease_ontology true An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html Microsporum gypseum tinea capitis An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. DOID:0050102 disease_ontology true An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html url:http://www.springerlink.com/content/q856g32375864654/fulltext.pdf Microsporum nanum tinea capitis An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. DOID:0050103 disease_ontology true An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. url:http://www.jstor.org/stable/pdfplus/3756652.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html Trichophyton verrucosum tinea capitis An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. DOID:0050104 disease_ontology true An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html endothrix infectious disease A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. DOID:0050105 disease_ontology A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ Trichophyton soudanense tinea capitis An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. DOID:0050106 disease_ontology true An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html Trichophyton tonsurans tinea capitis An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. DOID:0050107 disease_ontology true An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html Trichophyton violaceum tinea capitis An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots". DOID:0050108 disease_ontology true An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots". url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html Trichophyton schoenleinii tinea capitis A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. DOID:0050110 disease_ontology true A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html Microsporum fulvum tinea capitis An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. DOID:0050111 disease_ontology true An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html Trichophyton megninii tinea capitis An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. DOID:0050112 disease_ontology true An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. url:http://emedicine.medscape.com/article/787217-overview url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm Trichophyton equinum tinea capitis An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. DOID:0050113 disease_ontology true An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html Trichophyton yaoundei tinea capitis An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. DOID:0050115 disease_ontology true An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. url:http://en.wikipedia.org/wiki/Trichophyton url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf tinea imbricata A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. DOID:0050116 disease_ontology A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata disease by infectious agent A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. DOID:0050117 DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 disease_ontology infectious disease A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. DO:wk url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726 La Crosse encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. California Encephalitis California virus encephalitis DOID:0050118 DOID:10840 ICD10CM:A83.5 ICD9CM:062.5 MSH:D004670 Neuroinvasive California encephalitis virus infection SNOMEDCT_US_2015_03_01:186588007 SNOMEDCT_US_2015_03_01:266103004 SNOMEDCT_US_2015_03_01:416442006 SNOMEDCT_US_2015_03_01:417075004 SNOMEDCT_US_2015_03_01:418531007 SNOMEDCT_US_2015_03_01:69627004 UMLS_CUI:C0014053 disease_ontology California Encephalitis MTHICD9_2006:062.5 Neuroinvasive California encephalitis virus infection SNOMEDCT_2005_07_31:417075004 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm West Nile virus neurological syndrome A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. DOID:0050119 WNND WNNS West nile neuroinvasive disease disease_ontology true A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. URL:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php hemophagocytic lymphohistiocytosis A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. DOID:0050120 DOID:6453 HPS Hemophagocytic lymphohistiocytosis, familial, 2 Hemophagocytic syndrome ICD10CM:D76.1 ICD9CM:288.4 MSH:D051359 NCI:C34792 NCI:C35439 OMIM:267700 OMIM:603552 OMIM:603553 OMIM:608898 OMIM:613101 SNOMEDCT_US_2015_03_01:127069007 SNOMEDCT_US_2015_03_01:190958003 SNOMEDCT_US_2015_03_01:234437005 UMLS_CUI:C0024291 Xref MGI. MSH:C537250 added from NeuroDevNet [WAK]. disease_ontology haemophagocytic syndrome Hemophagocytic lymphohistiocytosis, familial, 2 MSH:C537250 A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis url:http://www.mayoclinicproceedings.com/inside.asp?AID=57&UID= url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso Hemophagocytic syndrome NCI2004_11_17:C35439 tuberculous encephalitis DOID:0050123 disease_ontology true dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. DOID:0050125 DSS OMIM:614371 disease_ontology A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome url:http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645 Tahyna virus encephalitis A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. DOID:0050126 Tahyna virus infection disease_ontology true valtice fever A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf url:http://www.cdc.gov/eid/content/15/2/306.htm url:http://www.springerlink.com/content/u67424r731431362/ sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. DOID:0050127 DOID:2052 DOID:9564 ICD10CM:J01 ICD10CM:J01.9 ICD10CM:J01.90 ICD9CM:461 ICD9CM:461.9 SNOMEDCT_US_2015_03_01:155498004 SNOMEDCT_US_2015_03_01:155501004 SNOMEDCT_US_2015_03_01:15805002 SNOMEDCT_US_2015_03_01:195649005 SNOMEDCT_US_2015_03_01:195653007 SNOMEDCT_US_2015_03_01:266378004 UMLS_CUI:C0149512 disease_ontology A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. url:http://en.wikipedia.org/wiki/sinusitis url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null secretory diarrhea DOID:0050129 Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. disease_ontology Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea osmotic diarrhea DOID:0050130 Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. disease_ontology Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea motility-related diarrhea DOID:0050131 Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. disease_ontology Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea inflammatory diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. DOID:0050132 disease_ontology A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea superficial mycosis A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. Adding a UMLS CUI for piedra C2980104. DOID:0050133 DOID:13370 ICD10CM:B36.9 MSH:D010854 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:187002008 SNOMEDCT_US_2015_03_01:187476003 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:276206000 SNOMEDCT_US_2015_03_01:402135006 SNOMEDCT_US_2015_03_01:47382004 Steroid-modified tinea infection UMLS_CUI:C0031898 UMLS_CUI:C2980104 disease_ontology piedra A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. url:http://en.wikipedia.org/wiki/Mycoses url:http://www.mycology.adelaide.edu.au/Mycoses/ SNOMEDCT_2005_07_31:238435009 Steroid-modified tinea infection cutaneous mycosis A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. DOID:0050134 disease_ontology A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Mycoses url:http://jama.ama-assn.org/cgi/reprint/61/6/407 subcutaneous mycosis A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. DOID:0050135 disease_ontology A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. url:http://www.itg.be/evde/53_Medical_mycologyp3.htm url:http://www.mycology.adelaide.edu.au/Mycoses/ systemic mycosis A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. DOID:0050136 disease_ontology A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. url:http://dermnetnz.org/fungal/systemic-mycoses.html url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 podoconiosis DOID:0050138 disease_ontology Opisthorchis felineus infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. DOID:0050139 disease_ontology true A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. url:http://en.wikipedia.org/wiki/Opisthorchis_felineus acute diarrhea A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. DOID:0050140 disease_ontology A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. url:http://en.wikipedia.org/wiki/Diarrhea intestinal botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. DOID:0050141 disease_ontology A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html url:http://www.who.int/mediacentre/factsheets/fs270/en/ asymptomatic dengue A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. DOID:0050143 disease_ontology A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. url:http://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0 Kartagener syndrome A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. DOID:0050144 Kartagener's syndrome MSH:D007619 NCI:C84797 SNOMEDCT_US_2015_03_01:42402006 SNOMEDCT_US_2015_03_01:86204009 UMLS_CUI:C0022521 disease_ontology A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 url:http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/19529061 url:http://www.ncbi.nlm.nih.gov/pubmed/23243352 url:http://www.ncbi.nlm.nih.gov/pubmed/24019633 url:http://www.ncbi.nlm.nih.gov/pubmed/25633235 adenoiditis An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. DOID:0050145 DOID:13750 ICD10CM:J35.02 ICD9CM:474.01 SNOMEDCT_US_2015_03_01:195794009 SNOMEDCT_US_2015_03_01:232420002 UMLS_CUI:C0396023 chronic adenoiditis disease_ontology An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false url:http://en.wikipedia.org/wiki/Adenoiditis autoimmune glomerulonephritis DOID:0050146 disease_ontology true otomycosis A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. DOID:0050147 Singapore ear disease_ontology A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. url:http://en.wikipedia.org/wiki/Otomycosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis laryngotracheitis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. DOID:0050148 DOID:11795 DOID:9390 ICD10CM:J04 ICD10CM:J04.2 ICD10CM:J37.1 ICD9CM:464 ICD9CM:464.2 ICD9CM:476.1 SNOMEDCT_US_2015_03_01:155505008 SNOMEDCT_US_2015_03_01:155508005 SNOMEDCT_US_2015_03_01:195679003 SNOMEDCT_US_2015_03_01:195694004 SNOMEDCT_US_2015_03_01:195697006 SNOMEDCT_US_2015_03_01:195703007 SNOMEDCT_US_2015_03_01:276443001 SNOMEDCT_US_2015_03_01:64375000 SNOMEDCT_US_2015_03_01:83271005 UMLS_CUI:C0155811 UMLS_CUI:C0155837 disease_ontology An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis Pontiac fever A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. DOID:0050150 disease_ontology A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. url:http://www.cdc.gov/legionella/patient_facts.htm url:http://www.ncbi.nlm.nih.gov/pubmed/623097 tracheobronchial tuberculosis A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. DOID:0050151 disease_ontology true A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. url:http://www.ncbi.nlm.nih.gov/pubmed/9122509 aspiration pneumonia A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. DOID:0050152 ICD10CM:J69.0 MSH:D011015 SNOMEDCT_US_2015_03_01:422588002 SNOMEDCT_US_2015_03_01:47839005 UMLS_CUI:C0032290 disease_ontology A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. url:http://scalpel.stanford.edu/articles/aspiration--NEJM.pdf pulmonary aspergilloma An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. DOID:0050153 disease_ontology An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm mycoplasmal pneumonia A bacterial pneumonia caused by the genus Mycoplasma. DOID:0050154 disease_ontology true A bacterial pneumonia caused by the genus Mycoplasma. url:http://en.wikipedia.org/wiki/Mycoplasma sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). DOID:0050155 disease_ontology A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). url:http://en.wikipedia.org/wiki/Sensory_system idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. DOID:0050156 EFO:0000768 FIBROCYSTIC PULMONARY DYSPLASIA ICD10CM:J84.112 ICD9CM:516.31 IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL MSH:D054990 NCI:C35715 NCI:C35716 OMIM mapping confirmed by DO. [SN]. OMIM:178500 SNOMEDCT_US_2015_03_01:196125002 SNOMEDCT_US_2015_03_01:233721005 SNOMEDCT_US_2015_03_01:237121003 SNOMEDCT_US_2015_03_01:28168000 SNOMEDCT_US_2015_03_01:426437004 UMLS_CUI:C1800706 cryptogenic fibrosing alveolitis disease_ontology An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 cryptogenic organizing pneumonia An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. BOOP Bronchiolitis obliterans organizing pneumonia (disorder) Cryptogenic organizing pneumonitis DOID:0050157 DOID:2798 ICD10CM:J84.116 ICD9CM:516.36 MSH:D018549 NCI:C62586 SNOMEDCT_US_2015_03_01:129458007 UMLS_CUI:C0242770 bronchiolitis obliterans organizing pneumonia disease_ontology idiopathic bronchiolitis obliterans with organizing pneumonia Bronchiolitis obliterans organizing pneumonia (disorder) SNOMEDCT_2005_07_31:129458007 An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. url:http://chestjournal.chestpubs.org/content/102/1_Supplement/2S.long url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 desquamative interstitial pneumonia An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. DOID:0050158 DOID:2796 ICD10CM:J84.115 ICD10CM:J84.117 ICD9CM:516.34 ICD9CM:516.37 MSH:C562470 NCI:C35288 OMIM mapping confirmed by DO. [SN]. OMIM:263000 RBILD SNOMEDCT_US_2015_03_01:8549006 UMLS_CUI:C0238378 desquamative interstitial pneumonia disease_ontology familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288 url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 url:http://www.ncbi.nlm.nih.gov/pubmed/16142185 url:http://www.ncbi.nlm.nih.gov/pubmed/16456642 url:http://www.ncbi.nlm.nih.gov/pubmed/23001799 lymphoid interstitial pneumonia An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. DOID:0050159 disease_ontology An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 inhalation anthrax An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. DOID:0050160 disease_ontology pulmonary anthrax respiratory anthrax wool-sorters' disease woolsorters' disease An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. url:http://chestjournal.chestpubs.org/content/116/5/1369.full url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp url:http://www.ncbi.nlm.nih.gov/pubmed/11988441 url:http://www.nlm.nih.gov/medlineplus/ency/article/000641.htm MTHICD9_2006:022.1 respiratory anthrax lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. DOID:0050161 ICD9CM:478.1 ICD9CM:478.19 SNOMEDCT_US_2015_03_01:195823002 SNOMEDCT_US_2015_03_01:266346007 UMLS_CUI:C0029581 disease_ontology A respiratory system disease which involves the lower respiratory tract. url:http://en.wikipedia.org/wiki/lower_respiratory_tract influenza encephalopathy DOID:0050162 disease_ontology true influenza myocarditis DOID:0050163 disease_ontology true influenza myositis DOID:0050164 disease_ontology true tuberculous mesenteric gland A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. DOID:0050165 disease_ontology true A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false tuberculous salpingitis An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. DOID:0050166 ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2015_03_01:186242002 SNOMEDCT_US_2015_03_01:186243007 UMLS_CUI:C0152828 disease_ontology An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. url:http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false autoimmune polyendocrine syndrome type 1 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. Autoimmune Polyglandular Syndrome I DOID:0050167 Whitaker syndrom autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy disease_ontology An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. sn:IEDB autoimmune polyendocrine syndrome type 2 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. DOID:0050168 Schmidt syndrome disease_ontology An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. DOID:0050169 disease_ontology A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. sn:IEDB Jamestown Canyon encephalitis A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. DOID:0050170 disease_ontology true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/10451169 snowshoe hare encephalitis A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. DOID:0050171 disease_ontology true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php trivittatus encephalitis A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. DOID:0050172 disease_ontology true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm url:http://www.ncbi.nlm.nih.gov/pubmed/10025535 inkoo encephalitis A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. DOID:0050173 disease_ontology true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf url:http://en.wikipedia.org/wiki/California_encephalitis_virus url:http://www.ncbi.nlm.nih.gov/pubmed/10025535 url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424 Kunjin encephalitis A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. DOID:0050174 disease_ontology A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. url:http://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/2552010 tick-borne encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. Central European encephalitis DOID:0050175 DOID:0050176 DOID:10251 DOID:10252 Far Eastern TBE ICD10CM:A84.1 ICD9CM:063.2 MSH:D004675 Russian spring-summer encephalitis SNOMEDCT_US_2015_03_01:16901001 Siberian tick-borne encephalitis Taiga encephalitis UMLS_CUI:C0014054 Western European tick-borne encephalitis disease_ontology west-Siberian encephalitis MTHICD9_2006:063.0 Taiga encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm SNOMEDCT_2005_07_31:16901001 Western European tick-borne encephalitis monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). DOID:0050177 disease_ontology A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). DO:wk,ls complex genetic disease A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). DOID:0050178 disease_ontology true A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). DO:wk Powassan encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. DOID:0050179 disease_ontology A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. url:http://chppm-www.apgea.army.mil/ento/facts/Powassan-JusttheFactsJanuary2004.pdf Colorado tick fever encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. DOID:0050180 disease_ontology true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. url:http://www.ncbi.nlm.nih.gov/pubmed/13894744 url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146 Herpes simplex virus encephalitis A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. DOID:0050181 disease_ontology true A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm Varicella-zoster virus encephalitis A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. DOID:0050182 DOID:8698 Herpes zoster encephalitis Postchickenpox encephalitis Varicella Zoster Encephalitis disease_ontology postvaricella encephalitis true MTH:NOCODE Varicella Zoster Encephalitis Herpes zoster encephalitis SNOMEDCT_2005_07_31:186521003 SNOMEDCT_2005_07_31:192692005 MTHICD9_2006:052.0 Postchickenpox encephalitis A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/6273449 Epstein-Barr virus encephalitis An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. DOID:0050183 disease_ontology true An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. url:http://www.aafp.org/afp/20000201/letters.html url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm Measles virus encephalitis A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. DOID:0050184 DOID:9127 Post measles encephalitis (disorder) Post-measles encephalitis disease_ontology postmeasles encephalitis true Post-measles encephalitis SNOMEDCT_2005_07_31:154339003 SNOMEDCT_2005_07_31:186557008 SNOMEDCT_2005_07_31:230178009 Post measles encephalitis (disorder) SNOMEDCT_2005_07_31:111872008 A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html url:http://www.springerlink.com/content/2020124072032058/ erythema multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. DOID:0050185 disease_ontology A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm Cytomegalovirus encephalitis A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. DOID:0050186 disease_ontology true A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. url:http://www.ncbi.nlm.nih.gov/pubmed/8815757 Rubella virus encephalitis A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. DOID:0050187 DOID:9231 disease_ontology true A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263 coxsackievirus encephalitis An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. DOID:0050188 disease_ontology true An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA148&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/14464001 polioencephalitis An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. DOID:0050189 disease_ontology true An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/pubmed/13436875 adenovirus encephalitis An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. DOID:0050190 disease_ontology true An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA70&lpg#v=onepage&q=&f=false url:http://cid.oxfordjournals.org/content/31/3/830.full url:http://www.medscape.com/viewarticle/414625 url:http://www.ncbi.nlm.nih.gov/pubmed/15560392 influenza virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. DOID:0050191 disease_ontology true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792 Nipah virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. DOID:0050192 disease_ontology true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/pubmed/19141846 url:http://www.searo.who.int/LinkFiles/CDS_Nipah_Virus.pdf url:http://www.who.int/mediacentre/factsheets/fs262/en/ Lymphocytic choriomeningitis virus encephalitis A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. DOID:0050193 disease_ontology true A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm Argentine hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. DOID:0050194 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever url:http://www.jstor.org/stable/30129873?seq=1 Bolivian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. DOID:0050195 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm Venezuelan hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. DOID:0050196 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. url:http://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm Brazilian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. DOID:0050197 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever url:http://www.ncbi.nlm.nih.gov/pubmed/7905555 url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 Chapare hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding. DOID:0050198 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding. url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. DOID:0050199 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. url:http://jama.ama-assn.org/cgi/content/full/284/10/1237 url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 Korean hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. DOID:0050200 disease_ontology A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm url:http://www.ncbi.nlm.nih.gov/pubmed/1349231 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. DOID:0050201 disease_ontology A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. url:http://www.ncbi.nlm.nih.gov/pubmed/1349231 url:http://www.ncbi.nlm.nih.gov/pubmed/2574903 url:http://www.ncbi.nlm.nih.gov/pubmed/2902106 lujo hemorrhagic fever A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. DOID:0050202 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. url:http://www.ncbi.nlm.nih.gov/sites/entrez/19478873 Cytomegalovirus hepatitis A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. DOID:0050203 disease_ontology true A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Cytomegalovirus url:http://www.ncbi.nlm.nih.gov/pubmed/4300216 url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800 Epstein-Barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. DOID:0050204 disease_ontology A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. url:http://www.ncbi.nlm.nih.gov/pubmed/16711324 url:http://www.ncbi.nlm.nih.gov/pubmed/17602362 Herpes simplex virus hepatitis A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. DOID:0050205 disease_ontology true A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. url:http://jcp.bmj.com/content/46/10/968.full.pdf url:http://www.jstor.org/stable/20396832 url:http://www.ncbi.nlm.nih.gov/pubmed/16597901 url:http://www.ncbi.nlm.nih.gov/pubmed/7006542 adenovirus hepatitis An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage. DOID:0050206 disease_ontology true An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA273&lpg#v=onepage&q=&f=false url:http://onlinelibrary.wiley.com/doi/10.1111/j.1399-3046.2010.01443.x/abstract Rubella virus hepatitis A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. DOID:0050207 disease_ontology true A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/7550869 yellow fever hepatitis A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. DOID:0050208 disease_ontology true A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false Measles virus hepatitis A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. DOID:0050209 disease_ontology true A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/17068034 url:http://www.ncbi.nlm.nih.gov/pubmed/3417236 Varicella-zoster virus hepatitis A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. DOID:0050210 disease_ontology true A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014 url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915 swine influenza An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. DOID:0050211 disease_ontology An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. url:http://www.cdc.gov/flu/swineflu/key_facts.htm url:http://www.ncbi.nlm.nih.gov/pubmed/9140195 Campylobacter jejuni gastroenteritis A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. Campylobacter Gastroenteritis DOID:0050212 disease_ontology true Campylobacter Gastroenteritis NCI2004_11_17:C35162 A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. url:http://www.ncbi.nlm.nih.gov/pubmed/17846438 Vibrio gastroenteritis A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. DOID:0050213 disease_ontology true A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm url:http://www.jstor.org/stable/pdfplus/30113106.pdf url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. DOID:0050214 Eaton-Lambert syndrome ICD10CM:G70.80 ICD9CM:358.3 LEMS Lambert-Eaton syndrome MSH:D015624 NCI:C3155 SNOMEDCT_US_2015_03_01:230688006 SNOMEDCT_US_2015_03_01:56989000 UMLS_CUI:C0022972 disease_ontology Eaton-Lambert syndrome MSH:D015624 Lambert-Eaton syndrome MSH:D015624 A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. url:http://emedicine.medscape.com/article/1170810-overview url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome Staphylococcus gastroenteritis A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. DOID:0050215 Staphylococcus Aureus Gastroenteritis disease_ontology true A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html url:http://www.springerlink.com/content/pg45520138llh128/ NCI2004_11_17:C35036 Staphylococcus Aureus Gastroenteritis Bacillus cereus gastroenteritis A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. DOID:0050216 disease_ontology true A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. url:http://www.jstor.org/stable/pdfplus/30112755.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/8501338 Sapovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. DOID:0050217 disease_ontology true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm url:http://www0.nih.go.jp/JJID/61/438.pdf polycystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. DOID:0050218 disease_ontology human polycystic hydatid disease neotropical echinococcosis An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm Hepeviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. DOID:0050219 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. url:http://en.wikipedia.org/wiki/Hepeviridae url:http://www.expasy.org/viralzone/all_by_species/41.html Coxiella burnetii pneumonia A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. DOID:0050220 Q fever pneumonia disease_ontology true A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.ncbi.nlm.nih.gov/pubmed/15021054 Coxiella burnetii hepatitis A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. DOID:0050221 Q fever hepatitis disease_ontology true A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html selective IgM deficiency disease A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. DOID:0050222 disease_ontology A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. url:http://en.wikipedia.org/wiki/IgM url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency candidal gastritis A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting. DOID:0050223 disease_ontology true A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting. url:http://books.google.com/books?id=I-qKxu5oE2EC&pg=PA166&lpg=PA166&dq#v=onepage&q=&f=false url:http://emedicine.medscape.com/article/213853-overview url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html Helicobacter heilmannii infectious disease A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. DOID:0050224 disease_ontology true A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/10349993 Histoplasma capsulatum gastritis An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. DOID:0050225 disease_ontology true An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536 Morganella morganii intestinal infectious disease An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. DOID:0050226 disease_ontology true An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. url:http://www.ncbi.nlm.nih.gov/sites/entrez/17180585 Vibrio cholerae O139 cholera A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. DOID:0050227 disease_ontology true A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent amebic dysentery An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. DOID:0050228 Entamoeba histolytica dysentery amebic dysentery amoebic dysentery disease_ontology true An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html Escherichia coli dysentery An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. DOID:0050229 disease_ontology true An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. url:http://emedicine.medscape.com/article/217485-overview url:http://www.jstor.org/stable/pdfplus/30112505.pdf intestinal capillariasis A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. DOID:0050230 disease_ontology true A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. url:http://en.wikipedia.org/wiki/Intestinal_capillariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm hepatic capillariasis A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. DOID:0050231 disease_ontology true A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. url:http://en.wikipedia.org/wiki/Capillaria_hepatica url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm pulmonary capillariasis A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. DOID:0050232 disease_ontology true A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm Balamuthia mandrillaris infectious disease A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. DOID:0050233 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm Acanthamoeba infectious disease A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. DOID:0050234 DOID:11334 disease_ontology free-living ameba infectious disease true A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. url:http://en.wikipedia.org/wiki/Acanthamoeba Alveolata infectious disease A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. DOID:0050235 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. url:http://en.wikipedia.org/wiki/Alveolata Heterolobosea infectious disease A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. DOID:0050236 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. url:http://tolweb.org/Heterolobosea/96360 Euglenozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. DOID:0050237 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. url:http://en.wikipedia.org/wiki/Euglenozoa Parabasalia infectious disease A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. DOID:0050238 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. url:http://en.wikipedia.org/wiki/Parabasalid Fornicata infectious disease A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. DOID:0050239 disease_ontology true A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. url:http://tolweb.org/Fornicata/121182 Trichomonadida infectious disease A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. DOID:0050240 disease_ontology true A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. url:http://en.wikipedia.org/wiki/Trichomonad Tritrichomonadida infectious disease A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. DOID:0050241 disease_ontology true A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080 primary amebic meningoencephalitis A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. DOID:0050242 Naegleria fowleri infection disease_ontology A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm Apicomplexa infectious disease An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. DOID:0050243 disease_ontology true An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. url:http://en.wikipedia.org/wiki/Apicomplexa Coccidia infectious disease An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. DOID:0050244 disease_ontology true An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. url:http://en.wikipedia.org/wiki/Coccidia Aconoidasida infectious disease An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. DOID:0050245 disease_ontology true An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. url:http://en.wikipedia.org/wiki/Aconoidasida granulomatous amebic encephalitis A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. Acanthamoeba encephalitis Acanthamoeba granulomatous encephalitis DOID:0050246 Granulomatous Amebic Encephalitis due to Acanthamoeba disease_ontology granulomatous amoebic encephalitis A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm parasitic stramenopiles infectious disease A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. DOID:0050247 disease_ontology true A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. url:http://en.wikipedia.org/wiki/Stramenopiles Brugia timori filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. DOID:0050249 disease_ontology true A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. url:http://en.wikipedia.org/wiki/Brugia_timori philophthalmiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. DOID:0050250 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm coenurosis A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. DOID:0050251 disease_ontology A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. url:http://www.dpd.cdc.gov/dpdx/HTML/Coenurosis.htm Dipylidium caninum infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. DOID:0050252 disease_ontology true A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. url:http://en.wikipedia.org/wiki/Dipylidium_caninum url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm mesocestoidiasis A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. DOID:0050253 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm acanthocephaliasis A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. DOID:0050254 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. url:http://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm Uncinaria stenocephala infectious disease A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. DOID:0050255 disease_ontology true A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. DOID:0050256 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm Angiostrongylus cantonensis infectious disease An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. DOID:0050257 disease_ontology true An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm Angiostrongylus costaricensis infectious disease An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. DOID:0050258 disease_ontology true An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668 baylisascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. DOID:0050259 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. url:http://www.dpd.cdc.gov/dpdx/HTML/Baylisascariasis.htm dioctophymiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. DOID:0050260 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm thelaziasis A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. DOID:0050261 disease_ontology A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm Acoelomata infectious disease A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. DOID:0050262 disease_ontology true A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. url:http://en.wikipedia.org/wiki/Flatworm Pseudocoelomata infectious disease A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. DOID:0050263 disease_ontology true A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. url:http://en.wikipedia.org/wiki/Body_cavity Acanthocephala infectious disease A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. DOID:0050264 disease_ontology true A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. url:http://en.wikipedia.org/wiki/Acanthocephala tick paralysis DOID:0050265 disease_ontology true tungiasis A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. DOID:0050266 disease_ontology A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. url:http://en.wikipedia.org/wiki/Tungiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm Ancylostoma caninum ancylostomiasis An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis. DOID:0050267 disease_ontology true An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis. url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm ophthalmomyiasis A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. DOID:0050268 disease_ontology A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm Trichomonas vaginalis trichomoniasis A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. DOID:0050269 disease_ontology true urogenital trichomonas A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. url:http://en.wikipedia.org/wiki/Trichomoniasis Trichomonas tenax trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. DOID:0050270 disease_ontology true A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 cutaneous ascomycota mycosis A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. DOID:0050271 disease_ontology true A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota cutaneous basidiomycota mycosis A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. DOID:0050272 disease_ontology true A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota Neoscytalidium dimidiatum infectious disease A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. DOID:0050273 disease_ontology true A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983 Scopulariopsis infectious disease An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. DOID:0050274 disease_ontology true An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm onychomycosis A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. DOID:0050275 disease_ontology true A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. url:http://en.wikipedia.org/wiki/Onychomycosis url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis subcutaneous ascomycota mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. DOID:0050276 disease_ontology true A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://en.wikipedia.org/wiki/Mycosis subcutaneous fungi incertae sedis mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. DOID:0050277 disease_ontology true A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock basidiobolomycosis A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. DOID:0050278 disease_ontology A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ conidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. DOID:0050279 disease_ontology An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ superficial ascomycota mycosis A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. DOID:0050280 disease_ontology true A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota superficial basidiomycota mycosis A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. DOID:0050281 disease_ontology true A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota primary systemic ascomycota mycosis A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. DOID:0050282 disease_ontology true A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ Stachybotrys infectious disease A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. DOID:0050283 disease_ontology true A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf opportunistic ascomycota mycosis An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. DOID:0050284 disease_ontology true An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ opportunistic basidiomycota mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. DOID:0050285 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ opportunistic fungi incertae sedis mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. DOID:0050286 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock opportunistic microsporidia mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. DOID:0050287 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. url:http://en.wikipedia.org/wiki/Microsporidia url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ penicilliosis An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. DOID:0050288 disease_ontology An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 fusariosis An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. DOID:0050289 disease_ontology An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://www.ncbi.nlm.nih.gov/pubmed/14748803 trichosporonosis An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. DOID:0050290 disease_ontology An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. url:http://emedicine.medscape.com/article/230705-overview parasitic Ichthyosporea infectious disease A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. DOID:0050291 disease_ontology A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. url:http://en.wikipedia.org/wiki/Mesomycetozoea primary systemic mycosis A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. DOID:0050292 disease_ontology A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. url:http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/ Scopulariopsis brevicaulis infectious disease An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. DOID:0050293 disease_ontology true An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm Scytalidium hyalinum infectious disease A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. DOID:0050294 disease_ontology true A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431 cutaneous sporotrichosis A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. DOID:0050295 disease_ontology plaque sporotrichosis true A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm Asfarviridae infectious disease A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. DOID:0050296 disease_ontology true A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. url:http://en.wikipedia.org/wiki/Asfarviridae primary Francisellaceae infectious disease DOID:0050297 disease_ontology true adenovirus infectious disease A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. Adenoviridae infectious disease DOID:0050298 DOID:3123 DOID:3124 disease_ontology true A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. url:http://en.wikipedia.org/wiki/Adenoviridae Simplexvirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. DOID:0050299 disease_ontology true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. url:http://en.wikipedia.org/wiki/Simplexvirus Deltavirus infectious disease A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. DOID:0050300 disease_ontology true A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. url:http://en.wikipedia.org/wiki/Deltavirus Polyomaviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. DOID:0050301 disease_ontology true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae Varicellovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. DOID:0050302 disease_ontology true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. url:http://en.wikipedia.org/wiki/Varicellovirus url:http://www.expasy.org/viralzone/all_by_species/179.html Hepacivirus infectious disease A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. DOID:0050303 disease_ontology true A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf url:http://www.expasy.org/viralzone/all_by_species/37.html aniseikonia DOID:0050304 disease_ontology Arteriviridae infectious disease A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. DOID:0050305 disease_ontology true A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/28.html familial abdominal aortic aneurysm DOID:0050306 OMIM mapping confirmed by DO. [SN]. disease_ontology true Bornaviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. DOID:0050307 disease_ontology true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. url:http://en.wikipedia.org/wiki/Bornaviridae Alkhurma hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. DOID:0050308 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. url:http://en.wikipedia.org/wiki/Alkhurma_virus url:www.episouth.org/download.php?&id=7266 Measles virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. DOID:0050309 disease_ontology true A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. url:http://en.wikipedia.org/wiki/Measles primary Listeriaceae infectious disease DOID:0050310 disease_ontology true primary Helicobacteraceae infectious disease DOID:0050311 disease_ontology true primary Campylobacteraceae infectious disease DOID:0050312 disease_ontology true primary Brucellaceae infectious disease DOID:0050313 disease_ontology true primary Erysipelotrichaceae infectious disease DOID:0050314 disease_ontology true commensal Clostridiaceae infectious disease DOID:0050315 disease_ontology true commensal Staphylococcaceae infectious disease DOID:0050316 disease_ontology true commensal Streptococcaceae infectious disease DOID:0050317 disease_ontology true primary Burkholderiaceae infectious disease DOID:0050318 disease_ontology true primary Legionellaceae infectious disease DOID:0050319 disease_ontology true commensal Alcaligenaceae infectious disease DOID:0050320 disease_ontology true opportunistic Pseudomonadaceae infectious disease DOID:0050321 disease_ontology true primary Vibrionaceae infectious disease DOID:0050322 disease_ontology true primary Coxiellaceae infectious disease DOID:0050323 disease_ontology true physical disorder OBSOLETED TERM A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). DOID:0050324 disease_ontology true A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). url:http://en.wikipedia.org/wiki/Physical_disorder genetic disorder A medical disorder that is an illness caused by abnormalities in genes or chromosomes. DOID:0050325 disease_ontology true A medical disorder that is an illness caused by abnormalities in genes or chromosomes. url:http://en.wikipedia.org/wiki/Genetic_disorder url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml peripheral dysostosis DOID:0050327 OMIM mapping confirmed by DO. [SN]. Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation disease_ontology true congenital hypothyroidism A hypothyroidism that is present at birth. DOID:0050328 DOID:11631 DOID:11632 ICD10CM:E00.1 ICD10CM:E03.1 ICD9CM:243 MSH:D003409 NCI:C26734 NCI:C98921 OMIM:218700 OMIM:225250 OMIM:274400 OMIM:274500 OMIM:274900 OMIM:275100 OMIM:275200 OMIM:607200 OMIM:609893 OMIM:614450 SNOMEDCT_US_2015_03_01:154660000 SNOMEDCT_US_2015_03_01:154661001 SNOMEDCT_US_2015_03_01:190268003 SNOMEDCT_US_2015_03_01:190273009 SNOMEDCT_US_2015_03_01:217710005 SNOMEDCT_US_2015_03_01:267376007 SNOMEDCT_US_2015_03_01:267465007 SNOMEDCT_US_2015_03_01:3614006 SNOMEDCT_US_2015_03_01:75065003 UMLS_CUI:C0010308 UMLS_CUI:C0342200 Xref MGI. OMIM mapping confirmed by DO. [SN]. cretinism disease_ontology CSP2005:2928-6883 cretinism A hypothyroidism that is present at birth. url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism mental disorder A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. DOID:0050329 disease_ontology true A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders url:http://en.wikipedia.org/wiki/Mental_disorder LADD syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. DOID:0050331 LEVY-HOLLISTER SYNDROME OMIM mapping confirmed by DO. [SN]. OMIM:149730 disease_ontology lacrimoauriculodentodigital syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome enlarged vestibular aqueduct DOID:0050332 OMIM mapping confirmed by DO. [SN]. OMIM:600791 disease_ontology congenital anosmia DOID:0050333 disease_ontology true thiourea tasting DOID:0050334 PHENYLTHIOCARBAMIDE TASTING, INCLUDED PROPYLTHIOURACIL TASTING, INCLUDED disease_ontology true bradyopsia A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes. DOID:0050335 MSH:C564243 OMIM:608415 ORDO:75374 UMLS_CUI:C1842073 disease_ontology prolonged electroretinal response suppression A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes. PMID:17826834 url:http://ghr.nlm.nih.gov/condition/bradyopsia hypophosphatemia DOID:0050336 disease_ontology Burkholderia cepacia infectious disease DOID:0050337 disease_ontology true primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. DOID:0050338 disease_ontology A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. url:http://en.wikipedia.org/wiki/Infectious_disease commensal bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. DOID:0050339 disease_ontology A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. url:http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false opportunistic bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. DOID:0050340 disease_ontology A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 opportunistic Actinomycetales infectious disease DOID:0050341 disease_ontology true commensal Actinomycetales infectious disease A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. DOID:0050342 disease_ontology true A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. url:www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf Gardnerella vaginalis vaginosis DOID:0050343 disease_ontology true commensal Bifidobacteriaceae infectious disease DOID:0050344 disease_ontology true primary Thermomonosporaceae infectious disease DOID:0050345 disease_ontology true primary Corynebacteriaceae infectious disease DOID:0050346 disease_ontology true primary Mycobacteriaceae infectious disease DOID:0050347 disease_ontology true primary Streptomycetaceae infectious disease DOID:0050348 disease_ontology true opportunistic Nocardiaceae infectious disease DOID:0050349 disease_ontology true primary Clostridiaceae infectious disease DOID:0050350 disease_ontology true primary Clostridium infectious disease DOID:0050351 disease_ontology true foodborne botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. DOID:0050352 disease_ontology A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf wound botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. DOID:0050353 disease_ontology A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. url:http://www.who.int/mediacentre/factsheets/fs270/en/ infant botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. DOID:0050354 disease_ontology A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf opportunistic Burkholderiaceae infectious disease DOID:0050355 disease_ontology true Burkholderia cenocepacia infectious disease DOID:0050357 disease_ontology true commensal Chlamydiaceae infectious disease DOID:0050358 disease_ontology true Bilophila wadsworthia necrotizing fasciitis DOID:0050359 disease_ontology true commensal Enterobacteriaceae infectious disease DOID:0050360 disease_ontology true opportunistic Enterobacteriaceae infectious disease DOID:0050361 disease_ontology true Elizabethkingia meningoseptica infectious disease DOID:0050362 disease_ontology true Capnocytophaga canimorsus infectious disease DOID:0050363 disease_ontology true opportunistic Flavobacteriaceae infectious disease DOID:0050364 disease_ontology true Chryseobacterium indologenes infectious disease DOID:0050365 disease_ontology true Empedobacter brevis endophthalmitis DOID:0050366 disease_ontology true Myroides odoratus necrotizing fasciitis DOID:0050367 disease_ontology true commensal Fusobacteriaceae infectious disease DOID:0050368 disease_ontology true primary Mycoplasmataceae infectious disease DOID:0050369 disease_ontology true commensal Neisseriaceae infectious disease DOID:0050370 disease_ontology true commensal Pasteurellaceae infectious disease DOID:0050371 disease_ontology true commensal Haemophilus infectious disease DOID:0050372 disease_ontology true Leptospiraceae infectious disease DOID:0050373 disease_ontology true Spirochaetaceae infectious disease DOID:0050374 disease_ontology true primary Spirillaceae infectious disease DOID:0050375 disease_ontology true anaplasmosis DOID:0050376 disease_ontology true Burkholderia cepacia complex infectious disease DOID:0050356 DOID:0050377 disease_ontology true opportunistic Campylobacteraceae infectious disease DOID:0050378 disease_ontology true Campylobacter fetus infectious disease DOID:0050379 disease_ontology true Campylobacter coli infectious disease DOID:0050380 disease_ontology true Chlamydia trachomatis epididymitis DOID:0050381 disease_ontology true glandular tularemia A tularemia that results_in swelling of regional lymph glands. DOID:0050382 disease_ontology A tularemia that results_in swelling of regional lymph glands. url:http://www.cdc.gov/tularemia/signssymptoms/ typhoidal tularemia A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. DOID:0050383 disease_ontology A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. url:http://emedicine.medscape.com/article/230923-clinical commensal Helicobacteraceae infectious disease DOID:0050384 disease_ontology true commensal Helicobacter infectious disease DOID:0050385 disease_ontology true Acinetobacter baumannii pneumonia DOID:0050386 disease_ontology true nonpapillary renal cell carcinoma DOID:0050387 OMIM mapping confirmed by DO. [SN]. OMIM:144700 disease_ontology Bacteroides fragilis peritonitis DOID:0050388 disease_ontology true Capnocytophaga canimorsus meningitis DOID:0050389 disease_ontology true Capnocytophaga canimorsus endocarditis DOID:0050390 disease_ontology true Elizabethkingia meningoseptica meningitis DOID:0050391 disease_ontology true streptococcal necrotizing fasciitis DOID:0050392 disease_ontology true Chryseobacterium indologenes pneumonia DOID:0050393 disease_ontology true nocardial pneumonia DOID:0050394 disease_ontology true nocardial cellulitis DOID:0050395 disease_ontology true nocardial keratitis DOID:0050396 disease_ontology true cerebral Bilophila wadsworthia infectious disease DOID:0050397 disease_ontology true Carrion's Disease A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. Carrion Disease DOID:0050398 disease_ontology oroya fever A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. url:http://emedicine.medscape.com/article/213169-clinical#a0217 url:http://en.wikipedia.org/wiki/Carrion%27s_disease Bordetella pertussis whooping cough DOID:0050399 disease_ontology true Pseudomonas urinary tract infectious disease DOID:0050400 disease_ontology true Pseudomonas endocarditis DOID:0050401 disease_ontology true Pseudomonas keratitis DOID:0050402 disease_ontology true commensal Mycoplasmatales infectious disease DOID:0050403 disease_ontology true commensal Mycoplasmataceae infectious disease DOID:0050404 disease_ontology true Mycoplasma genitalium urethritis DOID:0050405 disease_ontology true Yersinia pseudotuberculosis mesenteric lymphadenitis DOID:0050406 disease_ontology true commensal Mycoplasma infectious disease DOID:0050407 disease_ontology true Staphylococcus aureus ecthyma DOID:0050408 disease_ontology true Streptococcus pyogenes ecthyma DOID:0050409 disease_ontology true streptococcal erysipelas DOID:0050410 disease_ontology true Staphylococcus aureus erysipelas DOID:0050411 disease_ontology true Streptococcus impetigo DOID:0050412 disease_ontology true Staphylococcus aureus impetigo DOID:0050413 disease_ontology true Streptococcus lymphangitis DOID:0050414 disease_ontology true Staphylococcus aureus lymphangitis DOID:0050415 disease_ontology true Streptococcus agalactiae meningitis DOID:0050416 disease_ontology true Streptococcus equisimilis meningitis DOID:0050417 Streptococcus dysgalactiae subsp. equisimilis meningitis disease_ontology true Streptococcus zooepidemicus meningitis DOID:0050418 Streptococcus equi subsp. zooepidemicus meningitis disease_ontology true complement factor I deficiency C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY DOID:0050419 OMIM mapping confirmed by DO. [SN]. OMIM:610984 disease_ontology primary Streptococcaceae infectious disease DOID:0050420 disease_ontology true primary streptococcal infectious disease DOID:0050421 disease_ontology true Yersinia pseudotuberculosis gastroenteritis DOID:0050422 disease_ontology true enteroaggregative Escherichia coli infectious disease DOID:0050423 disease_ontology enteroaggregative E.coli infection true familial adenomatous polyposis An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. DOID:0050424 MSH:D011125 NCI:C3339 OMIM mapping confirmed by DO. [SN]. OMIM:175100 OMIM:608456 SNOMEDCT_US_2015_03_01:154609001 SNOMEDCT_US_2015_03_01:188828009 SNOMEDCT_US_2015_03_01:269636003 SNOMEDCT_US_2015_03_01:423471004 SNOMEDCT_US_2015_03_01:70921007 SNOMEDCT_US_2015_03_01:72900001 UMLS_CUI:C0032580 UMLS_CUI:C2713442 UMLS_CUI:C2713443 adenomatous polyposis of the colon disease_ontology An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. DO:ls url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. DOID:0050425 EFO:0004270 ICD10CM:G25.81 ICD9CM:333.94 MSH:D012148 NCI:C84501 OMIM:102300 OMIM:608830 OMIM:610438 OMIM:610439 OMIM:611185 OMIM:611242 OMIM:612853 OMIM:615197 SNOMEDCT_US_2015_03_01:32914008 SNOMEDCT_US_2015_03_01:393579008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome Xref MGI. disease_ontology A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. url:http://en.wikipedia.org/wiki/Restless_legs_syndrome url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm Stevens-Johnson syndrome DOID:0050426 EFO:0004276 ICD10CM:L51.1 ICD10CM:L51.2 ICD9CM:695.13 ICD9CM:695.15 MSH:D013262 NCI:C79484 NCI:C79777 SNOMEDCT_US_2015_03_01:156362004 SNOMEDCT_US_2015_03_01:200919006 SNOMEDCT_US_2015_03_01:23067006 SNOMEDCT_US_2015_03_01:238819008 SNOMEDCT_US_2015_03_01:267848009 SNOMEDCT_US_2015_03_01:403609001 SNOMEDCT_US_2015_03_01:73442001 UMLS_CUI:C0014518 UMLS_CUI:C0038325 UMLS_CUI:C1274933 UMLS_CUI:C3658301 UMLS_CUI:C3658302 disease_ontology xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. DOID:0050427 ICD10CM:Q82.1 MSH:D014983 NCI:C3452 OMIM mapping confirmed by DO. [SN]. OMIM:278700 OMIM:278720 OMIM:278730 OMIM:278740 OMIM:278750 OMIM:278760 OMIM:278780 OMIM:610651 SNOMEDCT_US_2015_03_01:44600005 UMLS_CUI:C0043346 disease_ontology An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. DOID:0050428 MSH:D015776 NCI:C3147 OMIM:600962 OMIM:613000 OMIM:615735 ORDO:2337 SNOMEDCT_US_2015_03_01:205584004 SNOMEDCT_US_2015_03_01:28596004 SNOMEDCT_US_2015_03_01:399955009 SNOMEDCT_US_2015_03_01:400123002 SNOMEDCT_US_2015_03_01:81206005 Thost-Unna Syndrome UMLS_CUI:C0022584 UMLS_CUI:C3489771 Unna-Thost Syndrome Xref MGI. OMIM mapping confirmed by DO. [SN]. diffuse nonepidermolytic palmomplantar keratoderma disease_ontology tylosis A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma Hailey-Hailey disease BENIGN CHRONIC PEMPHIGUS DOID:0050429 ICD10CM:Q82.8 MSH:D016506 NCI:C82865 OMIM mapping confirmed by DO. [SN]. OMIM:169600 Pemphigus, Benign Familial SNOMEDCT_US_2015_03_01:79468000 UMLS_CUI:C0085106 disease_ontology multiple endocrine neoplasia type 2A An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. DOID:0050430 ICD10CM:E31.22 ICD9CM:258.02 MEN2A MSH:D018813 NCI:C3226 OMIM mapping confirmed by DO. [SN]. OMIM:171400 ORDO:247698 SNOMEDCT_US_2015_03_01:61808009 Sipple syndrome UMLS_CUI:C0025268 disease_ontology multiple endocrine neoplasia II An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html url:http://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract arrhythmogenic right ventricular cardiomyopathy ARVC ARVC cardiomyopathy ARVD An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. DOID:0050431 MSH:D019571 NCI:C84571 OMIM:107970 OMIM:600996 OMIM:602086 OMIM:602087 OMIM:604400 OMIM:604401 OMIM:607450 OMIM:609040 OMIM:610193 OMIM:610476 OMIM:611528 OMIM:615616 ORDO:247 SNOMEDCT_US_2015_03_01:253528005 SNOMEDCT_US_2015_03_01:281170005 UMLS_CUI:C0349788 Xref MGI. OMIM mapping confirmed by DO. [SN]. arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy disease_ontology An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy url:http://my.clevelandclinic.org/services/heart/disorders/arvd url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html Asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. DOID:0050432 ICD10CM:F84.5 MSH:D020817 NCI:C97159 OMIM:300494 OMIM:300497 OMIM:608631 OMIM:608638 OMIM:608781 OMIM:609954 ORDO:1162 SNOMEDCT_US_2015_03_01:154879004 SNOMEDCT_US_2015_03_01:192586006 SNOMEDCT_US_2015_03_01:23560001 UMLS_CUI:C0236792 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. url:http://en.wikipedia.org/wiki/Asperger_syndrome url:www.neurodevnet.ca fatal familial insomnia DOID:0050433 ICD10CM:A81.83 ICD9CM:046.72 MSH:D034062 NCI:C84711 OMIM mapping confirmed by DO. [SN]. OMIM:600072 SNOMEDCT_US_2015_03_01:83157008 UMLS_CUI:C0206042 disease_ontology Andersen-Tawil syndrome A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Andersen syndrome DOID:0050434 Long QT syndrome 7 MSH:D050030 NCI:C84559 OMIM mapping confirmed by DO. [SN]. OMIM:170390 SNOMEDCT_US_2015_03_01:422348008 UMLS_CUI:C1563715 disease_ontology A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome url:http://en.wikipedia.org/wiki/Long_QT_syndrome mulibrey nanism DOID:0050436 MSH:D050336 Muscle-Liver-Brain-Eye Nanism NCI:C84906 OMIM mapping confirmed by DO. [SN]. OMIM:253250 PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome SNOMEDCT_US_2015_03_01:81604003 UMLS_CUI:C0524582 disease_ontology Danon disease ANTOPOL DISEASE DOID:0050437 MSH:D052120 NCI:C84735 OMIM mapping confirmed by DO. [SN]. OMIM:300257 PSEUDOGLYCOGENOSIS II SNOMEDCT_US_2015_03_01:419097006 UMLS_CUI:C0878677 disease_ontology Frasier syndrome DOID:0050438 MSH:D052159 OMIM mapping confirmed by DO. [SN]. OMIM:136680 SNOMEDCT_US_2015_03_01:445431000 UMLS_CUI:C0950122 disease_ontology Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. DOID:0050439 MSH:D052245 NCI:C85217 OMIM:276900 OMIM:276901 OMIM:276902 OMIM:276904 OMIM:601067 OMIM:602083 OMIM:602097 OMIM:605472 OMIM:606943 OMIM:611383 OMIM:612632 OMIM:614504 OMIM:614869 OMIM:614990 ORDO:886 SNOMEDCT_US_2015_03_01:57838006 SNOMEDCT_US_2015_03_01:73119000 UMLS_CUI:C0271097 UMLS_CUI:C1568248 UMLS_CUI:C1568249 UMLS_CUI:C2931205 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology A syndrome characterized by a combination of hearing loss and visual impairment. url:http://en.wikipedia.org/wiki/Usher_syndrome familial partial lipodystrophy A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. DOID:0050440 Dunnigan Syndrome Koberling-Dunnigan Syndrome MSH:D052496 NCI:C84708 OMIM:151660 OMIM:604367 OMIM:608600 OMIM:613877 OMIM:615238 SNOMEDCT_US_2015_03_01:49292002 UMLS_CUI:C0271694 UMLS_CUI:C1720859 UMLS_CUI:C1720860 UMLS_CUI:C1720861 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy url:http://omim.org/entry/608600 mucosulfatidosis DOID:0050441 MSH:D052517 NCI:C84908 OMIM mapping confirmed by DO. [SN]. OMIM:272200 SNOMEDCT_US_2015_03_01:254076009 SNOMEDCT_US_2015_03_01:54898003 Sulfatidosis, Juvenile, Austin Type UMLS_CUI:C0268263 UMLS_CUI:C1720864 disease_ontology multiple sulfatase deficiency disease infantile refsum disease DOID:0050444 ICD10CM:G60.1 INFANTILE PHYTANIC ACID STORAGE DISEASE MSH:D052919 NCI:C84789 OMIM mapping confirmed by DO. [SN]. OMIM:266510 SNOMEDCT_US_2015_03_01:238062008 UMLS_CUI:C0282527 disease_ontology X-linked hypophosphatemic rickets A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. DOID:0050445 Hypophosphatemia, Vitamin D-Resistant Rickets ICD10:E83.31 MSH:D053098 NCI:C85234 OMIM mapping confirmed by DO. [SN]. OMIM:300554 OMIM:307800 Rickets, Vitamin D-Resistant SNOMEDCT_US_2015_03_01:82236004 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia disease_ontology hypophosphatemic rickets X-linked dominant A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. url:http://emedicine.medscape.com/article/922305-overview url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11911&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&title=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&search=Disease_Search_Simple hereditary mucosal leukokeratosis A skin disease characterized by a defect in the normal process of keratinization of the mucosa. DOID:0050448 MSH:D053529 NCI:C84760 OMIM:193900 OMIM:615785 ORDO:171723 SNOMEDCT_US_2015_03_01:389203001 SNOMEDCT_US_2015_03_01:62953009 SNOMEDCT_US_2015_03_01:85388002 UMLS_CUI:C1721005 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology white sponge nevus white sponge nevus of Cannon A skin disease characterized by a defect in the normal process of keratinization of the mucosa. url:http://en.wikipedia.org/wiki/White_sponge_nevus url:http://omim.org/entry/193900 pachyonychia congenita DOID:0050449 Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome MSH:D053549 NCI:C84986 OMIM mapping confirmed by DO. [SN]. OMIM:167200 OMIM:167210 PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1 SNOMEDCT_US_2015_03_01:205600001 SNOMEDCT_US_2015_03_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007 disease_ontology Gitelman syndrome DOID:0050450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA MSH:C531690 MSH:D053579 NCI:C84730 OMIM mapping confirmed by DO. [SN]. OMIM:263800 SNOMEDCT_US_2015_03_01:3188003 SNOMEDCT_US_2015_03_01:707756004 UMLS_CUI:C0268450 disease_ontology Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. DOID:0050451 MSH:D053840 NCI:C71059 OMIM mapping confirmed by DO. [SN]. OMIM:601144 OMIM:611777 OMIM:611875 OMIM:611876 OMIM:612838 OMIM:613119 OMIM:613120 OMIM:613123 SNOMEDCT_US_2015_03_01:418818005 UMLS_CUI:C1142166 UMLS_CUI:C1721096 UMLS_CUI:C1955837 disease_ontology A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. url:http://en.wikipedia.org/wiki/Brugada_syndrome mevalonic aciduria DOID:0050452 MSH:D054078 Mevalonate Kinase Deficiency NCI:C84890 OMIM mapping confirmed by DO. [SN]. OMIM:610377 SNOMEDCT_US_2015_03_01:124327008 SNOMEDCT_US_2015_03_01:234538002 UMLS_CUI:C0342731 UMLS_CUI:C0398691 UMLS_CUI:C1959626 disease_ontology lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. DOID:0050453 ICD10CM:Q04.3 ICD10CM:Q04.8 MSH:D054082 NCI:C103921 OMIM:257320 OMIM:300067 OMIM:300215 OMIM:607432 OMIM:611603 OMIM:614019 OMIM:615191 ORDO:102009 SNOMEDCT_US_2015_03_01:204036008 SNOMEDCT_US_2015_03_01:23024003 SNOMEDCT_US_2015_03_01:26425000 UMLS_CUI:C0266463 UMLS_CUI:C0266483 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. url:http://en.wikipedia.org/wiki/Lissencephaly url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm periventricular nodular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. DOID:0050454 MSH:C548481 MSH:D054091 OMIM:300049 OMIM:300537 OMIM:608097 OMIM:608098 OMIM:612881 OMIM:615544 ORDO:98892 SNOMEDCT_US_2015_03_01:448227009 UMLS_CUI:C1848213 UMLS_CUI:C1868720 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology periventricular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia arachnodactyly DOID:0050455 disease_ontology true Buruli ulcer disease A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. Bairnsdale ulcer DOID:0050456 Daintree ulcer ICD10CM:A31.1 MSH:D054312 Mossman ulcer NCI:C84604 SNOMEDCT_US_2015_03_01:15845006 SNOMEDCT_US_2015_03_01:186343005 Searl ulcer Searle's ulcer UMLS_CUI:C0085568 disease_ontology A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. url:http://en.wikipedia.org/wiki/Buruli_ulcer url:http://www.who.int/mediacentre/factsheets/fs199/en/ Sertoli cell-only syndrome DEL CASTILLO SYNDROME DOID:0050457 Germinal Cell Aplasia MSH:D054331 OMIM mapping confirmed by DO. [SN]. OMIM:305700 OMIM:400042 SNOMEDCT_US_2015_03_01:73465006 UMLS_CUI:C1384583 disease_ontology juvenile myelomonocytic leukemia DOID:0050458 ICD10CM:C93.3 ICD10CM:C93.30 MSH:D054429 NCI:C9233 OMIM mapping confirmed by DO. [SN]. OMIM:607785 SNOMEDCT_US_2015_03_01:128832006 SNOMEDCT_US_2015_03_01:277587001 SNOMEDCT_US_2015_03_01:445227008 UMLS_CUI:C0349639 disease_ontology hyperphosphatemia DOID:0050459 MSH:D054559 NCI:C113750 SNOMEDCT_US_2015_03_01:20165001 UMLS_CUI:C0085681 disease_ontology Wolf-Hirschhorn syndrome 4p deletion syndrome DOID:0050460 DOID:6684 ICD10CM:Q93.3 MSH:D054877 NCI:C35528 OMIM mapping confirmed by DO. [LS]. OMIM:194190 PITT SYNDROME Pitt-Rogers-Danks Syndrome SNOMEDCT_US_2015_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 chromosome 4p16.3 deletion syndrome disease_ontology aspartylglucosaminuria ASPARTYLGLUCOSAMINIDASE DEFICIENCY DOID:0050461 GLYCOSYLASPARAGINASE DEFICIENCY ICD10CM:E77.1 MSH:D054880 NCI:C61273 OMIM mapping confirmed by DO. [SN]. OMIM:208400 SNOMEDCT_US_2015_03_01:54954004 UMLS_CUI:C0268225 aspartylglycosaminuria disease_ontology Antley-Bixler syndrome An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. DOID:0050462 MSH:D054882 OMIM mapping confirmed by DO. [SN]. OMIM:201750 OMIM:207410 SNOMEDCT_US_2015_03_01:62964007 UMLS_CUI:C1860042 UMLS_CUI:C2350233 UMLS_CUI:C2936791 disease_ontology trapezoidocephaly-synostosis syndrome An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome campomelic dysplasia Acampomelic Campomelic Dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. DOID:0050463 MSH:D055036 NCI:C84609 OMIM mapping confirmed by DO. [SN]. OMIM:114290 SNOMEDCT_US_2015_03_01:74928006 UMLS_CUI:C1861922 UMLS_CUI:C1861923 disease_ontology An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. url:http://en.wikipedia.org/wiki/Campomelic_dysplasia url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia url:http://www.healthline.com/galecontent/campomelic-dysplasia-1 Farber lipogranulomatosis Acid Ceramidase Deficiency DOID:0050464 Farber Disease MSH:D055577 N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY NCI:C84710 OMIM mapping confirmed by DO. [SN]. OMIM:228000 SNOMEDCT_US_2015_03_01:79935000 UMLS_CUI:C0268255 disease_ontology Muir-Torre syndrome DOID:0050465 MSH:D055653 NCI:C84905 OMIM mapping confirmed by DO. [SN]. OMIM:158320 SNOMEDCT_US_2015_03_01:403824007 UMLS_CUI:C1321489 disease_ontology Loeys-Dietz syndrome DOID:0050466 MSH:D055947 NCI:C75006 OMIM:608967 OMIM:609192 OMIM:610168 OMIM:610380 OMIM:613795 OMIM:614816 ORDO:60030 SNOMEDCT_US_2015_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology erythrokeratodermia variabilis DOID:0050467 Erythrokeratodermia Figurata Variabilis Greither Disease MSH:C566591 MSH:D056266 NCI:C84696 OMIM mapping confirmed by DO. [SN]. OMIM:133200 SNOMEDCT_US_2015_03_01:254184006 SNOMEDCT_US_2015_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 disease_ontology yellow nail syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. DOID:0050468 ICD10CM:L60.5 MSH:D056684 NCI:C85238 OMIM mapping confirmed by DO. [SN]. OMIM:153300 SNOMEDCT_US_2015_03_01:400211001 SNOMEDCT_US_2015_03_01:45342007 UMLS_CUI:C0221348 disease_ontology A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. url:http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract Costello syndrome DOID:0050469 FCS SYNDROME Faciocutaneoskeletal Syndrome MSH:D056685 NCI:C84652 OMIM mapping confirmed by DO. [SN]. OMIM:218040 SNOMEDCT_US_2015_03_01:205803001 SNOMEDCT_US_2015_03_01:309776008 UMLS_CUI:C0587248 disease_ontology Donohue Syndrome DOID:0050470 Leprechaunism MSH:D056731 NCI:C84676 OMIM mapping confirmed by DO. [SN]. OMIM:246200 SNOMEDCT_US_2015_03_01:111307005 SNOMEDCT_US_2015_03_01:33559001 UMLS_CUI:C0265344 UMLS_CUI:C0271695 disease_ontology Carney complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome DOID:0050471 LAMB Syndrome MSH:D056733 NAME Syndrome NCI:C4705 OMIM:160980 OMIM:605244 OMIM:608837 ORDO:1359 SNOMEDCT_US_2015_03_01:239132009 UMLS_CUI:C0406810 UMLS_CUI:C1854540 UMLS_CUI:C2607929 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. url:http://en.wikipedia.org/wiki/Carney_complex url:http://ghr.nlm.nih.gov/condition/carney-complex monilethrix DOID:0050472 ICD10CM:Q84.1 MSH:D056734 NCI:C84894 OMIM mapping confirmed by DO. [SN]. OMIM:158000 SNOMEDCT_US_2015_03_01:205596006 SNOMEDCT_US_2015_03_01:276482004 SNOMEDCT_US_2015_03_01:69488000 UMLS_CUI:C0546966 disease_ontology Alstrom syndrome An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. DOID:0050473 MSH:D056769 NCI:C84549 OMIM mapping confirmed by DO. [SN]. OMIM:203800 SNOMEDCT_US_2015_03_01:63702009 UMLS_CUI:C0268425 disease_ontology An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. url:http://en.wikipedia.org/wiki/Alstrom_syndrome Netherton syndrome DOID:0050474 MSH:D056770 NCI:C84922 OMIM mapping confirmed by DO. [SN]. OMIM:256500 SNOMEDCT_US_2015_03_01:205555008 SNOMEDCT_US_2015_03_01:239058007 SNOMEDCT_US_2015_03_01:254127001 SNOMEDCT_US_2015_03_01:312514006 SNOMEDCT_US_2015_03_01:34638006 SNOMEDCT_US_2015_03_01:54336006 UMLS_CUI:C0265962 disease_ontology Weill-Marchesani syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. DOID:0050475 GEMSS syndrome MSH:D056846 Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital NCI:C85226 OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 ORDO:3449 SNOMEDCT_US_2015_03_01:205801004 SNOMEDCT_US_2015_03_01:2884008 Spherophakia Brachymorphia Syndrome UMLS_CUI:C0265313 UMLS_CUI:C1869114 UMLS_CUI:C1869115 Xref MGI. OMIM mapping confirmed by DO. [LS]. congenital mesodermal dystrophy disease_ontology An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome Barth syndrome 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. DOID:0050476 ICD10CM:E78.71 MGA Type 2 MGA type II MSH:D056889 NCI:C84585 OMIM mapping confirmed by DO. [SN]. OMIM:302060 SNOMEDCT_US_2015_03_01:297231002 UMLS_CUI:C0574083 disease_ontology A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. url:http://en.wikipedia.org/wiki/Barth_syndrome url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 url:http://www.ninds.nih.gov/disorders/barth/barth.htm url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract Liddle syndrome DOID:0050477 Liddle's syndrome MSH:D056929 NCI:C84827 OMIM mapping confirmed by DO. [SN]. OMIM:177200 Pseudoaldosteronism SNOMEDCT_US_2015_03_01:190901004 SNOMEDCT_US_2015_03_01:237493003 SNOMEDCT_US_2015_03_01:707749005 SNOMEDCT_US_2015_03_01:71275003 UMLS_CUI:C0221043 disease_ontology primary Escherichia coli infectious disease DOID:0050478 disease_ontology true commensal Klebsiella infectious disease DOID:0050479 Klebsiella infection disease_ontology true CSP2005:0368-2705 Klebsiella infection epidemic typhus A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. DOID:0050480 disease_ontology sylvatic typhus A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. url:http://en.wikipedia.org/wiki/Epidemic_typhus endemic typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. DOID:0050028 DOID:0050029 DOID:0050030 DOID:0050057 DOID:0050058 DOID:0050481 Rat-Flea Typhus Rickettsia felis spotted fever Shop typhus Urban Typhus of Malaya cat flea rickettsiosis disease_ontology fleaborne typhus murine typhus toulon typhus urban typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. url:http://en.wikipedia.org/wiki/Murine_typhus lymphangitis-associated rickettsiosis DOID:0050482 disease_ontology true Rickettsia aeschlimannii spotted fever DOID:0050483 disease_ontology true aneruptive fever A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. DOID:0050484 Rickettsia helvetica spotted fever disease_ontology A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html sennetsu fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. DOID:0050485 Sennetsu ehrlichiosis disease_ontology A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. url:http://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html exanthem DOID:0050486 ICD10CM:R21 ICD9CM:782.1 MSH:D005076 NCI:C111884 NCI:C39594 Rash SNOMEDCT_US_2015_03_01:112625008 SNOMEDCT_US_2015_03_01:139684003 SNOMEDCT_US_2015_03_01:158230006 SNOMEDCT_US_2015_03_01:158231005 SNOMEDCT_US_2015_03_01:158234002 SNOMEDCT_US_2015_03_01:1806006 SNOMEDCT_US_2015_03_01:206860008 SNOMEDCT_US_2015_03_01:206861007 SNOMEDCT_US_2015_03_01:206864004 SNOMEDCT_US_2015_03_01:267183006 SNOMEDCT_US_2015_03_01:271807003 UMLS_CUI:C0015230 disease_ontology exanthema bacterial exanthem DOID:0050487 disease_ontology early congenital syphilis A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. DOID:0050488 disease_ontology A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland. DOID:0050489 OMIM:138800 OMIM:300273 OMIM:606082 ORDO:276399 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A goiter characterized by a multinodular enlargement of the thyroid gland. url:http://en.wikipedia.org/wiki/Multinodular_goitre parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. DOID:0050490 disease_ontology A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh meningovascular neurosyphilis A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. DOID:0050491 disease_ontology A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh tertiary syphilitic encephalitis DOID:0050492 disease_ontology true tertiary syphilitic meningitis DOID:0050493 disease_ontology true Papillomaviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. DOID:0050494 disease_ontology true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae exanthema subitum A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. DOID:0050495 ICD10CM:B08.2 ICD10CM:B08.20 ICD9CM:058.1 ICD9CM:058.10 MSH:D005077 Roseola Infantum SNOMEDCT_US_2015_03_01:154343004 SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:240559001 SNOMEDCT_US_2015_03_01:266192003 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:402902002 SNOMEDCT_US_2015_03_01:54385001 Sixth Disease UMLS_CUI:C0015231 disease_ontology A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. url:http://en.wikipedia.org/wiki/Exanthema_subitum Banna virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. DOID:0050496 disease_ontology true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. url:http://vir.sgmjournals.org/cgi/reprint/86/4/1147 url:http://www.cdc.gov/EID/content/14/8/1276.htm Anelloviridae infectious disease A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. DOID:0050497 disease_ontology true A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. url:http://en.wikipedia.org/wiki/Anelloviridae dsDNA virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. DOID:0050498 disease_ontology double stranded DNA virus infectious disease dsDNA virus infection true A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification ssDNA virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. DOID:0050499 disease_ontology single stranded DNA virus infectious disease ssDNA virus infection true A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification dsDNA-RT virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. DOID:0050500 disease_ontology double stranded DNA reverse transcribing virus infectious disease double stranded DNA-reverse transcribing virus infection dsDNA-RT virus infection true A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification dsRNA virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. DOID:0050501 disease_ontology double stranded RNA virus infectious disease dsRNA virus infection true A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification (+)ssRNA virus infectious disease (+)ssRNA virus infection A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. DOID:0050502 Positive Stranded ssRNA Virus infectious disease disease_ontology positive-sense single stranded RNA virus infectious disease positive-sense ssRNA virus infection positive-sense ssRNA virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification (-)ssRNA virus infectious disease (-)ssRNA virus infection A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. DOID:0050503 Negative Stranded ssRNA Virus infectious disease disease_ontology negative-sense single stranded RNA virus infectious disease negative-sense ssRNA virus infection negative-sense ssRNA virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification ssRNA-RT virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. DOID:0050504 disease_ontology single stranded RNA reverse transcribing virus infectious disease ssRNA-RT virus infection true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification human papilloma virus related anal squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. DOID:0050505 disease_ontology true A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. url:http://www.infectagentscancer.com/content/5/1/17 human papilloma virus related vaginal squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. DOID:0050506 disease_ontology true A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. url:http://emedicine.medscape.com/article/219110-overview url:http://emedicine.medscape.com/article/269188-overview AIDS-related cryptosporidiosis DOID:0050507 disease_ontology true variola major A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. DOID:0050508 ICD9CM:050.0 SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:47452006 UMLS_CUI:C1812609 disease_ontology A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:http://www.who.int/mediacentre/factsheets/smallpox/en/ AIDS-related toxoplasmosis DOID:0050509 disease_ontology true AIDS-related cystoisosporiasis AIDS-related isosporiasis DOID:0050510 disease_ontology true Human torovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. DOID:0050511 disease_ontology true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. url:http://www.jstor.org/stable/30117350 Saffold virus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. DOID:0050512 disease_ontology true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. url:http://jvi.asm.org/cgi/content/full/83/9/4631 url:http://www.cdc.gov/EID/content/15/9/1509.htm spinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs. DOID:0050513 disease_ontology A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs. url:http://en.wikipedia.org/wiki/Poliomyelitis bulbospinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs. DOID:0050514 disease_ontology A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs. url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms paralytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. DOID:0050515 disease_ontology A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. url:http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms O'nyong'nyong fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. DOID:0050516 disease_ontology A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false Barmah Forest virus disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. DOID:0050517 disease_ontology A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:http://health.vic.gov.au/ideas/bluebook/barmah_forest Ross River fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. DOID:0050518 Ross River virus disease disease_ontology A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:http://en.wikipedia.org/wiki/Ross_River_fever Lymphocytic choriomeningitis virus meningitis A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. DOID:0050519 disease_ontology true A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm Lymphocytic choriomeningitis virus meningoencephalitis A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. DOID:0050520 disease_ontology true A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm Oropouche fever A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting. DOID:0050521 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Oropouche_fever url:http://www.cdc.gov/EID/content/13/6/912.htm Balkan hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. DOID:0050522 disease_ontology A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. url:http://emedicine.medscape.com/article/982142-overview adult T-cell leukemia A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. Adult T-cell leukemia/lymphoma DOID:0050523 ICD10CM:C91.5 ICD10CM:C91.50 MSH:D015459 NCI:C3184 SNOMEDCT_US_2015_03_01:110007008 SNOMEDCT_US_2015_03_01:188729005 SNOMEDCT_US_2015_03_01:77430005 UMLS_CUI:C0023493 disease_ontology A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184 maturity-onset diabetes of the young A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. DOID:0050524 ICD10CM:E11.8 KEGG:04950 MODY Mason-type diabetes OMIM:125850 OMIM:125851 OMIM:137920 OMIM:600496 OMIM:606391 OMIM:606392 OMIM:606394 OMIM:609812 OMIM:610508 OMIM:612225 OMIM:613370 OMIM:613375 OMIM:616329 OMIM:616511 ORDO:552 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young acroosteolysis Acroosteolysis syndrome DOID:0050525 OMIM mapping confirmed by DO. [SN]. acro-osteolysis disease_ontology true Acroosteolysis syndrome SNOMEDCT_2005_07_31:27201004 Gamstorp-Wohlfart syndrome A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. DOID:0050526 OMIM mapping confirmed by DO. [SN]. OMIM:137200 autosomal recessive neuromyotonia and axonal neuropathy disease_ontology myokymia, myotonia and muscle wasting A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia familial hypertriglyceridemia A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency. DOID:0050527 OMIM mapping confirmed by DO. [SN]. OMIM:145750 Pure hyperglyceridemia disease_ontology A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency. url:http://en.wikipedia.org/wiki/Familial_hypertriglyceridemia nonphotosensitive trichothiodystrophy AMISH BRITTLE HAIR BRAIN SYNDROME BIDS SYNDROME DOID:0050528 HAIR-BRAIN SYNDROME OMIM mapping confirmed by DO. [SN]. OMIM:234050 disease_ontology adult spinal muscular atrophy DOID:0050529 OMIM mapping confirmed by DO. [SN]. OMIM:271150 SPINAL MUSCULAR ATROPHY, ADULT FORM SPINAL MUSCULAR ATROPHY, TYPE IV disease_ontology intermediate spinal muscular atrophy DOID:0050530 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE OMIM mapping confirmed by DO. [SN]. OMIM:253550 disease_ontology lentiginosis profusa DOID:0050531 LENTIGINOSIS, DIFFUSE LENTIGINOSIS, GENERALIZED LENTIGINOSIS, INHERITED PATTERNED OMIM mapping confirmed by DO. [SN]. disease_ontology true epidermal nevus DOID:0050532 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM mapping confirmed by DO. [SN]. PIGMENTED MOLES disease_ontology true soldiers heart DOID:0050533 IRRITABLE HEART MITRAL VALVE PROLAPSE SYNDROME NEUROCIRCULATORY ASTHENIA OMIM mapping confirmed by DO. [SN]. ORTHOSTATIC INTOLERANCE disease_ontology true congenital stationary night blindness A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. DOID:0050534 ICD10CM:H53.63 ICD9CM:368.61 MSH:C537743 OMIM:163500 OMIM:257270 OMIM:300071 OMIM:310500 OMIM:610427 OMIM:610444 OMIM:610445 OMIM:613216 OMIM:613830 OMIM:614565 OMIM:615058 OMIM:616389 ORDO:215 SNOMEDCT_US_2015_03_01:193687000 SNOMEDCT_US_2015_03_01:193688005 SNOMEDCT_US_2015_03_01:193689002 SNOMEDCT_US_2015_03_01:89208008 UMLS_CUI:C1306122 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital essential nyctalopia disease_ontology A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 url:http://www.ncbi.nlm.nih.gov/books/NBK1245/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ url:http://www.omim.org/entry/610444 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. DOID:0050535 FEVR ICD10CM:H35.00 ICD9CM:362.10 OMIM:133780 OMIM:305390 OMIM:601813 OMIM:605750 OMIM:613310 ORDO:891 SNOMEDCT_US_2015_03_01:193355009 SNOMEDCT_US_2015_03_01:31411005 SNOMEDCT_US_2015_03_01:42873008 UMLS_CUI:C0004608 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy SC phocomelia syndrome DOID:0050536 Hypomelia Hypotrichosis Facial hemangioma syndrome OMIM mapping confirmed by DO. [SN]. OMIM:269000 SC PSEUDOTHALIDOMIDE SYNDROME disease_ontology posterior polar cataract CATARACT, POSTERIOR POLAR DOID:0050537 OMIM mapping confirmed by DO. [SN]. OMIM:116600 OMIM:605387 OMIM:610623 OMIM:613763 disease_ontology Charcot-Marie-Tooth disease type 1 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. DOID:0050538 OMIM mapping confirmed by DO. [SN]. OMIM:118200 OMIM:118220 OMIM:118300 OMIM:601098 OMIM:607678 OMIM:607734 disease_ontology hereditary motor and sensory neuropathy type 1 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. DOID:0050539 ICD9CM:356.0 OMIM:118210 OMIM:118230 OMIM:600882 OMIM:601472 OMIM:604484 OMIM:605588 OMIM:605589 OMIM:606071 OMIM:606595 OMIM:607677 OMIM:607684 OMIM:607731 OMIM:607736 OMIM:607831 OMIM:608591 OMIM:608673 OMIM:609260 OMIM:613287 OMIM:614228 OMIM:614436 OMIM:615025 OMIM:615490 OMIM:616155 OMIM:616233 OMIM:616280 OMIM:616491 ORDO:64746 SNOMEDCT_US_2015_03_01:128202008 SNOMEDCT_US_2015_03_01:193158000 SNOMEDCT_US_2015_03_01:193159008 SNOMEDCT_US_2015_03_01:65017003 UMLS_CUI:C0392553 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. url:http://www.ncbi.nlm.nih.gov/pubmed/25098539 url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm Charcot-Marie-Tooth disease type 3 DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME DOID:0050540 OMIM mapping confirmed by DO. [SN]. OMIM:145900 disease_ontology Charcot-Marie-Tooth disease type 4 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. DOID:0050541 DOID:0050582 MERGED COMMENT: TARGET COMMENT: Xref MGI. OMIM mapping confirmed by DO. [SN]. -------------------- SOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. OMIM:145900 OMIM:158580 OMIM:158590 OMIM:182960 OMIM:214400 OMIM:600794 OMIM:601382 OMIM:601455 OMIM:601596 OMIM:604563 OMIM:605253 OMIM:605285 OMIM:607641 OMIM:607706 OMIM:608634 OMIM:609311 OMIM:611228 OMIM:613376 OMIM:614751 OMIM:614895 OMIM:615284 OMIM:615575 ORDO:64749 disease_ontology distal hereditary motor neuropathy hereditary motor and sensory neuropathy Russe type spinal CMT A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm Charcot-Marie-Tooth disease type X A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. COWCK Cowchock syndrome DOID:0050542 OMIM:300905 OMIM:302800 OMIM:302801 OMIM:302802 OMIM:310490 OMIM:311070 ORDO:64747 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm Charcot-Marie-Tooth disease intermediate type A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 OMIM:606482 OMIM:606483 OMIM:607791 OMIM:608323 OMIM:608340 OMIM:613641 OMIM:614455 OMIM:615185 OMIM:615376 OMIM:616039 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. url:http://www.ncbi.nlm.nih.gov/pubmed/16775371 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 hypermethioninemia An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. DOID:0050544 OMIM:613752 OMIM:614300 ORDO:289290 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. url:http://en.wikipedia.org/wiki/Hypermethioninemia visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. DOID:0050545 OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 ORDO:450 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology heterotaxia situs ambiguus A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. url:http://en.wikipedia.org/wiki/Situs_ambiguus congenital adrenal insufficiency ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE DOID:0050546 OMIM mapping confirmed by DO. [SN]. OMIM:613743 P450scc DEFICIENCY disease_ontology familial medullary thyroid carcinoma A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance. DOID:0050547 OMIM mapping confirmed by DO. [SN]. OMIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology hereditary sensory neuropathy A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. DOID:0050548 OMIM:162400 OMIM:201300 OMIM:256800 OMIM:256860 OMIM:310470 OMIM:608088 OMIM:608654 OMIM:613115 OMIM:613640 OMIM:613708 OMIM:614116 OMIM:614213 OMIM:614653 OMIM:615548 OMIM:615632 OMIM:616488 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital insensitivity to pain disease_ontology familial dysautonomia, type II hereditary sensory and autonomic neuropathy A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. url:http://omim.org/entry/616488?search=616488&highlight=616488 Saldino-Noonan syndrome DOID:0050549 OMIM mapping confirmed by DO. [SN]. OMIM:263530 disease_ontology type I short rib polydactyly syndrome Majewski syndrome DOID:0050550 OMIM mapping confirmed by DO. [SN]. disease_ontology true type II short rib-polydactyly syndrome Verma-Naumoff syndrome DOID:0050551 OMIM mapping confirmed by DO. [SN]. disease_ontology true type III short rib-polydactyly syndrome JMP syndrome An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. DOID:0050553 JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY OMIM mapping confirmed by DO. [SN]. OMIM:613732 disease_ontology An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. url:http://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php X-linked sideroblastic anemia with ataxia Anemia sideroblastic and spinocerebellar ataxia DOID:0050554 OMIM mapping confirmed by DO. [SN]. OMIM:301310 X-linked sideroblastic anemia and ataxia disease_ontology infantile onset spinocerebellar ataxia DOID:0050556 OHAHA SYNDROME OMIM:271245 disease_ontology congenital muscular dystrophy A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. DOID:0050557 ICD9CM:359.0 OMIM:253900 OMIM:254100 OMIM:602541 OMIM:602771 OMIM:604801 OMIM:606612 OMIM:607855 OMIM:608840 OMIM:609456 OMIM:613204 OMIM:613205 ORDO:97242 SNOMEDCT_US_2015_03_01:111501005 SNOMEDCT_US_2015_03_01:193221009 SNOMEDCT_US_2015_03_01:193224001 UMLS_CUI:C2937300 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. url:http://www.ninds.nih.gov/disorders/md/detail_md.htm Ullrich congenital muscular dystrophy DOID:0050558 OMIM mapping confirmed by DO. [SN]. OMIM:254090 ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy disease_ontology Fukuyama congenital muscular dystrophy DOID:0050559 OMIM mapping confirmed by DO. [SN]. OMIM:253800 disease_ontology Walker-Warburg syndrome DOID:0050560 HARD syndrome OMIM mapping confirmed by DO. [SN]. OMIM:236670 OMIM:253280 cerebroocular dysplasia-muscular dystrophy syndrome disease_ontology Lennox-Gastaut syndrome DOID:0050561 Lennox syndrome OMIM:606369 disease_ontology West syndrome DOID:0050562 disease_ontology nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. DOID:0050563 disease_ontology nonsyndromic hearing loss nonsyndromic hereditary hearing loss An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. DOID:0050564 ICD10CM:H90.3 OMIM mapping confirmed by DO. [SN]. OMIM:124900 OMIM:600101 OMIM:600652 OMIM:600965 OMIM:600994 OMIM:601316 OMIM:601317 OMIM:601369 OMIM:601412 OMIM:601543 OMIM:601544 OMIM:601868 OMIM:602459 OMIM:603622 OMIM:603964 OMIM:604717 OMIM:605192 OMIM:605583 OMIM:605594 OMIM:606012 OMIM:606282 OMIM:606346 OMIM:606451 OMIM:606705 OMIM:607017 OMIM:607197 OMIM:607453 OMIM:607683 OMIM:607841 OMIM:608224 OMIM:608372 OMIM:608394 OMIM:608641 OMIM:608645 OMIM:608652 OMIM:609965 OMIM:612431 OMIM:612642 OMIM:612643 OMIM:612644 OMIM:613074 OMIM:613558 OMIM:614152 OMIM:614211 OMIM:614314 OMIM:614614 OMIM:615629 OMIM:615649 OMIM:615654 OMIM:616044 OMIM:616340 OMIM:616357 ORDO:90635 autosomal dominant deafness disease_ontology A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. DOID:0050565 ICD10CM:H90.3 OMIM mapping confirmed by DO. [SN]. OMIM:220290 OMIM:600060 OMIM:600316 OMIM:600792 OMIM:600971 OMIM:600974 OMIM:601071 OMIM:601072 OMIM:601386 OMIM:601869 OMIM:602092 OMIM:603010 OMIM:603098 OMIM:603629 OMIM:603678 OMIM:603720 OMIM:604060 OMIM:605316 OMIM:605428 OMIM:605818 OMIM:607039 OMIM:607084 OMIM:607101 OMIM:607197 OMIM:607239 OMIM:607821 OMIM:608219 OMIM:608264 OMIM:608265 OMIM:608565 OMIM:608653 OMIM:609006 OMIM:609439 OMIM:609533 OMIM:609646 OMIM:609647 OMIM:609706 OMIM:609823 OMIM:609941 OMIM:609946 OMIM:609952 OMIM:610143 OMIM:610153 OMIM:610154 OMIM:610212 OMIM:610220 OMIM:610248 OMIM:610265 OMIM:610419 OMIM:611022 OMIM:611451 OMIM:612433 OMIM:612645 OMIM:612789 OMIM:613079 OMIM:613285 OMIM:613307 OMIM:613391 OMIM:613392 OMIM:613453 OMIM:613557 OMIM:613685 OMIM:613718 OMIM:613865 OMIM:613916 OMIM:614035 OMIM:614414 OMIM:614617 OMIM:614861 OMIM:614899 OMIM:614934 OMIM:614944 OMIM:614945 OMIM:615429 OMIM:615540 OMIM:615837 OMIM:615974 OMIM:616042 OMIM:616515 ORDO:90635 autosomal recessive deafness disease_ontology A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. DOID:0050566 ICD10CM:H90.3 OMIM mapping confirmed by DO. [SN]. OMIM:300030 OMIM:300066 OMIM:300614 OMIM:300914 OMIM:304400 OMIM:304500 ORDO:90625 X-linked deafness disease_ontology A nonsyndromic deafness characterized by an X-linked inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness orofacial cleft DOID:0050567 OMIM:119530 OMIM:600625 OMIM:600757 OMIM:602966 OMIM:608371 OMIM:608864 OMIM:608874 OMIM:610361 OMIM:612858 OMIM:613705 OMIM:613857 OMIM:615892 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology spondylocostal dysostosis A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. DOID:0050568 Jarcho-Levin syndrome OMIM:122600 OMIM:277300 OMIM:608681 OMIM:609813 OMIM:613686 ORDO:1797 ORDO:2311 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology spondylocostal dysostosis, autosomal recessive 3 spondylothoracic dysostosis spondylothoracic dysplasia A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis Seckel syndrome An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. DOID:0050569 Harper's syndrome ICD10CM:Q87.1 OMIM:210600 OMIM:606744 OMIM:608664 OMIM:613676 OMIM:613823 OMIM:614728 OMIM:614851 OMIM:615807 ORDO:808 Virchow-Seckel dwarfism Xref MGI. OMIM mapping confirmed by DO. [SN]. bird-headed dwarfism disease_ontology microcephalic primordial dwarfism An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. url:http://en.wikipedia.org/wiki/Seckel_syndrome congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. ALG1-CDG (CDG-1k) ALG11-CDG (CDG-1p) ALG12-CDG (CDG-1g) ALG2-CDG (CDG-1i) ALG3-CDG (CDG-1d) ALG6-CDG (CDG-1c) ALG8-CDG (CDG-1h) ALG9-CDG (CDG-1l) DOID:0050570 DOLK-CDG (CDG-1m) DPAGT1-CDG (CDG-1j) DPM1-CDG (CDG-1e) DPM2-CDG (CDG-1u) DPM3-CDG (CDG-1o) MPDU1-CDG (CDG-1f) MPI-CDG (CDG-1b) OMIM mapping confirmed by DO. [SN]. OMIM:212065 OMIM:601110 OMIM:602579 OMIM:603147 OMIM:607143 OMIM:607906 OMIM:608093 OMIM:608104 OMIM:608540 OMIM:608776 OMIM:608799 OMIM:609180 OMIM:610768 OMIM:612015 OMIM:612379 OMIM:612937 OMIM:613661 PMM2-CDG (CDG-1a) RFT1-CDG (CDG-1n) SRD5A3-CDG (CDG-1q) disease_ontology A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. B4GALT1-CDG (CDG-2d) DOID:0050571 MGAT2-CDG (CDG-2a) MOGS-CDG (CDG-2b) OMIM mapping confirmed by DO. [SN]. OMIM:212066 OMIM:266265 OMIM:603585 OMIM:606056 OMIM:607091 OMIM:608779 OMIM:611182 OMIM:611209 OMIM:613489 OMIM:613612 disease_ontology A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification cone-rod dystrophy A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. DOID:0050572 ICD10CM:H35.5 OMIM:120970 OMIM:300085 OMIM:300476 OMIM:304020 OMIM:600624 OMIM:600977 OMIM:601777 OMIM:602093 OMIM:603649 OMIM:604116 OMIM:605549 OMIM:607476 OMIM:608194 OMIM:610283 OMIM:610381 OMIM:612657 OMIM:612775 OMIM:613660 OMIM:614500 OMIM:615163 OMIM:615374 OMIM:615860 OMIM:615973 ORDO:1872 Xref MGI. OMIM mapping confirmed by DO. [SN]. cone-rod dystrophy 5 cone-rod retinal dystrophy disease_ontology A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy 2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. DOID:0050573 disease_ontology An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria L-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). DOID:0050574 L-2-HYDROXYGLUTARIC ACIDEMIA OMIM:236792 disease_ontology An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria D-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. DOID:0050575 OMIM:600721 OMIM:613657 disease_ontology An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria Senior-Loken syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. DOID:0050576 ICD10CM:Q61.5 Loken Senior syndrome OMIM:266900 OMIM:606995 OMIM:606996 OMIM:609254 OMIM:610189 OMIM:613615 ORDO:3156 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology renal-retinal syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. url:http://www.cigna.com/healthinfo/nord958.html Sensenbrenner syndrome DOID:0050577 Levin syndrome OMIM mapping confirmed by DO. [SN]. OMIM:218330 OMIM:613610 cranioectodermal dysplasia disease_ontology occult macular dystrophy A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. DOID:0050578 OMIM mapping confirmed by DO. [SN]. OMIM:613587 disease_ontology A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. url:www.iovs.org/content/41/2/513.full.pdf glycogen storage disease XV DOID:0050579 OMIM:613507 disease_ontology glycogen storage disease type XV hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. DOID:0050580 ICD9CM:757.0 Milroy's disease Nonne-Milroy lymphedema OMIM:153100 OMIM:153200 OMIM:247440 OMIM:611944 OMIM:613480 OMIM:615907 ORDO:79452 SNOMEDCT_US_2015_03_01:205542007 SNOMEDCT_US_2015_03_01:205543002 SNOMEDCT_US_2015_03_01:205546005 SNOMEDCT_US_2015_03_01:75127007 UMLS_CUI:C1313885 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. url:http://en.wikipedia.org/wiki/Milroy%27s_disease brachydactyly A bone development disease characterized by short fingers and toes. DOID:0050581 OMIM:112440 OMIM:112450 OMIM:112500 OMIM:112600 OMIM:112700 OMIM:112800 OMIM:112910 OMIM:113000 OMIM:113100 OMIM:113200 OMIM:113300 OMIM:301940 OMIM:607004 OMIM:611377 OMIM:613382 OMIM:615072 ORDO:294937 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A bone development disease characterized by short fingers and toes. url:http://en.wikipedia.org/wiki/Brachydactyly Chlamydophila pneumoniae infectious disease DOID:0050583 disease_ontology true gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. DOID:0050584 disease_ontology A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. url:http://emedicine.medscape.com/article/229461-overview#a0104 congenital generalized lipodystrophy Beradinelli-Seip syndrome DOID:0050585 OMIM mapping confirmed by DO. [SN]. OMIM:269700 OMIM:608594 OMIM:612526 OMIM:613327 disease_ontology trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair. DOID:0050587 OMIM mapping confirmed by DO. [SN]. OMIM:613229 disease_ontology An impulse control disorder that involves the uncontrollable plucking of ones hair. url:http://www.forensicpsychiatry.ca/impulse/trich.htm muscular dystrophy-dystroglycanopathy CMD due to dystroglycanopathy DOID:0050588 ICD10CM:G71.2 OMIM:613150 OMIM:613151 OMIM:613152 OMIM:613153 OMIM:613154 OMIM:613155 OMIM:613156 OMIM:613818 OMIM:614643 OMIM:614830 OMIM:615041 OMIM:615181 OMIM:615249 OMIM:615287 OMIM:615350 OMIM:615351 OMIM:616052 OMIM:616094 ORDO:370953 Xref MGI. disease_ontology CMD due to dystroglycanopathy ORDO:370953 inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract. DOID:0050589 EFO:0003767 KEGG:05321 MSH:D015212 NCI:C3138 OMIM:266600 OMIM:601458 OMIM:604519 OMIM:605225 OMIM:606348 OMIM:606668 OMIM:606674 OMIM:606675 OMIM:608448 OMIM:611081 OMIM:612241 OMIM:612244 OMIM:612245 OMIM:612255 OMIM:612259 OMIM:612261 OMIM:612262 OMIM:612278 OMIM:612288 OMIM:612354 OMIM:612380 OMIM:612381 OMIM:612566 OMIM:612567 OMIM:612639 OMIM:612796 OMIM:613148 SNOMEDCT_US_2015_03_01:155759008 SNOMEDCT_US_2015_03_01:196974002 SNOMEDCT_US_2015_03_01:24526004 SNOMEDCT_US_2015_03_01:266516008 UMLS_CUI:C0021390 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An intestinal disease characterized by inflammation located_in all parts of digestive tract. url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. DOID:0050590 ICD10CM:D70 OMIM:202700 OMIM:300299 OMIM:610738 OMIM:612541 OMIM:613107 OMIM:615285 OMIM:616022 ORDO:486 ORDO:86788 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. url:http://www.ncbi.nlm.nih.gov/pubmed/17133096 tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth. DOID:0050591 ICD10CM:K00.0 ICD9CM:520.0 MSH:D000848 OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:613097 ORDO:2227 ORDO:99798 SNOMEDCT_US_2015_03_01:16958000 SNOMEDCT_US_2015_03_01:196265005 SNOMEDCT_US_2015_03_01:196266006 SNOMEDCT_US_2015_03_01:196269004 SNOMEDCT_US_2015_03_01:234951001 SNOMEDCT_US_2015_03_01:26624006 UMLS_CUI:C0399352 Xref MGI. disease_ontology familial tooth agenesis hypodontia oligodontia selective tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth. url:http://en.wikipedia.org/wiki/Hypodontia asphyxiating thoracic dystrophy DOID:0050592 Jeune syndrome OMIM mapping confirmed by DO. [SN]. OMIM:208500 OMIM:611263 OMIM:613091 OMIM:613819 OMIM:614376 disease_ontology primary congenital glaucoma DOID:0050593 OMIM:613085 OMIM:613086 Xref MGI. disease_ontology glycogen storage disease IX DOID:0050594 OMIM:261750 OMIM:306000 OMIM:613027 disease_ontology mucormycosis DOID:0050595 disease_ontology true taeniasis A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. Beef tapeworm infection DOID:0050596 DOID:10076 ICD10CM:B68.1 ICD9CM:123.2 Infection by Taeniarhynchus saginatus SNOMEDCT_US_2015_03_01:69163003 Taenia saginata infectious disease UMLS_CUI:C0152073 disease_ontology A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. url:http://en.wikipedia.org/wiki/Taeniasis Infection by Taeniarhynchus saginatus MTHICD9_2006:123.2 intestinal schistosomiasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. DOID:0050597 DOID:13692 DOID:13721 DOID:3468 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 Katayama fever MSH:D012554 MSH:D012555 NCI:C35001 NCI:C35002 NCI:C35364 OMIM:181460 ORDO:1247 SNOMEDCT_US_2015_03_01:187114003 SNOMEDCT_US_2015_03_01:268058007 SNOMEDCT_US_2015_03_01:52179003 SNOMEDCT_US_2015_03_01:6421008 SNOMEDCT_US_2015_03_01:750009 Schistosoma japonicum infection Schistosoma mansoni infectious disease UMLS_CUI:C0036329 UMLS_CUI:C0036330 UMLS_CUI:C0276932 Xref MGI. disease_ontology schistosomiasis japonica NCI2004_11_17:C35001 Schistosoma japonicum infection A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. url:http://en.wikipedia.org/wiki/Schistosomiasis Katayama fever SNOMEDCT_2005_07_31:268981007 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. DOID:0050598 disease_ontology A tuberculosis that occurs at body sites other than the lung. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf abdominal tuberculosis An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. DOID:0050599 disease_ontology An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf ABCD syndrome ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). DOID:0050600 OMIM mapping confirmed by DO. [SN]. OMIM:600501 disease_ontology An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). url:http://en.wikipedia.org/wiki/ABCD_syndrome url:http://omim.org/entry/600501 ADULT syndrome An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. DOID:0050601 OMIM mapping confirmed by DO. [SN]. OMIM:103285 acro-dermato-ungual-lacrimal-tooth syndrome disease_ontology An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. url:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf triple-A syndrome Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome DOID:0050602 OMIM mapping confirmed by DO. [SN]. OMIM:231550 disease_ontology acheiropody Acheiropodia DOID:0050603 Horn-Kolb Syndrome OMIM mapping confirmed by DO. [SN]. OMIM:200500 disease_ontology acrocapitofemoral dysplasia DOID:0050604 OMIM mapping confirmed by DO. [SN]. OMIM:607778 disease_ontology acrodermatitis enteropathica DOID:0050605 OMIM:201100 disease_ontology acrokeratosis verruciformis Acrokeratosis verruciformis of Hopf DOID:0050606 Hopf disease OMIM mapping confirmed by DO. [SN]. OMIM:101900 disease_ontology Askin's tumor Askin tumor DOID:0050608 disease_ontology oral cavity carcinoma in situ DOID:0050610 disease_ontology pharynx carcinoma in situ DOID:0050611 disease_ontology gall bladder carcinoma in situ DOID:0050612 disease_ontology bile duct carcinoma in situ DOID:0050613 disease_ontology bronchus carcinoma in situ DOID:0050614 disease_ontology respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. DOID:0050615 disease_ontology An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm malignant Leydig cell tumor DOID:0050616 DOID:4755 Leydig cell tumor, malignant (morphologic abnormality) NCI:C4213 SNOMEDCT_US_2015_03_01:77870005 UMLS_CUI:C0334410 disease_ontology malignant Leydig cell neoplasm malignant interstitial cell tumor NCI2004_11_17:C4213 malignant Leydig cell neoplasm Leydig cell tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:77870005 malignant Sertoli cell tumor DOID:0050617 disease_ontology malignant Sertoli-Leydig cell tumor DOID:0050618 disease_ontology paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. DOID:0050619 DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 Epidermoid carcinoma of the paranasal sinus MSH:D010255 Mucoepidermoid carcinoma of Accessory sinus NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 adenoid cystic carcinoma of Accessory sinus adenoid cystic carcinoma of paranasal sinus disease_ontology paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma squamous cell carcinoma of paranasal sinus Epidermoid carcinoma of the paranasal sinus NCI2004_11_17:C8193 Mucoepidermoid carcinoma of Accessory sinus NCI2004_11_17:C6018 A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 NCI2004_11_17:C6019 adenoid cystic carcinoma of Accessory sinus infiltrating renal pelvis transitional cell carcinoma DOID:0050620 disease_ontology respiratory system benign neoplasm An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. DOID:0050621 disease_ontology An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/Respiratory_system reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. DOID:0050622 disease_ontology An organ system benign neoplasm that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system bladder benign neoplasm DOID:0050623 disease_ontology gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. DOID:0050624 disease_ontology An organ system benign neoplasm located_in gastrointestinal tract organs. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract biliary tract neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. DOID:0050625 DOID:4609 NCI:C4441 SNOMEDCT_US_2015_03_01:126855001 UMLS_CUI:C0345913 disease_ontology extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts (disorder) tumor of the extrahepatic bile duct NCI2004_11_17:C4441 tumor of the extrahepatic bile duct A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract SNOMEDCT_2005_07_31:126855001 neoplasm of extrahepatic bile ducts (disorder) gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. DOID:0050626 disease_ontology malignant gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 advanced sleep phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. DOID:0050628 OMIM:604348 OMIM:615224 ORDO:164736 Xref MGI. disease_ontology familial advanced sleep-phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome Aicardi-Goutieres syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. Cree encephalitis DOID:0050629 ICD10CM:G31.8 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 ORDO:51 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. url:http://omim.org/entry/225750 url:http://www.ncbi.nlm.nih.gov/books/NBK1475/ Aland Island eye disease DOID:0050630 FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome OMIM:300600 disease_ontology Allan-Herndon-Dudley syndrome ALLAN-HERNDON SYNDROME An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. DOID:0050631 OMIM mapping confirmed by DO. [SN]. OMIM:300523 disease_ontology An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome url:http://omim.org/entry/300523 oculocutaneous albinism An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. DOID:0050632 ICD10CM:E70.3 OMIM:203100 OMIM:203200 OMIM:203290 OMIM:606574 OMIM:606952 OMIM:614473 OMIM:615079 OMIM:615312 ORDO:55 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. url:en.wikipedia.org/wiki/Oculocutaneous_albinism url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism ocular albinism DOID:0050633 OMIM:300500 disease_ontology alopecia universalis ALOPECIA UNIVERSALIS CONGENITA DOID:0050634 OMIM:203655 disease_ontology alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. AHC DOID:0050635 ICD10CM:G98 OMIM:104290 OMIM:614820 ORDO:2131 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood familial visceral amyloidosis AMYLOIDOSIS, FAMILIAL RENAL DOID:0050636 German type amyloidosis OMIM mapping confirmed by DO. [SN]. OMIM:105200 OSTERTAG TYPE AMYLOIDOSIS disease_ontology systemic nonneuropathic amyloidosis Finnish type amyloidosis AMYLOIDOSIS, MERETOJA TYPE DOID:0050637 OMIM mapping confirmed by DO. [SN]. OMIM:105120 disease_ontology transthyretin amyloidosis Amyloidosis, hereditary, transthyretin-related An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. Corino de Andrade's disease DOID:0050638 Familial transthyretin amyloidosis OMIM mapping confirmed by DO. [SN]. OMIM:105210 TTR amyloidosis disease_ontology familial amyloid polyneuropathy transthyretin-related hereditary amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19372706 url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. DOID:0050639 OMIM:105250 OMIM:613955 ORDO:137807 PCA Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial primary localized cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. url:http://www.ncbi.nlm.nih.gov/pubmed/19663869 anauxetic dysplasia DOID:0050640 OMIM mapping confirmed by DO. [SN]. OMIM:607095 disease_ontology Rh deficiency syndrome DOID:0050641 OMIM mapping confirmed by DO. [SN]. OMIM:268150 disease_ontology hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells. DOID:0050642 OMIM:206100 OMIM:615234 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A microcytic anemia characterized by paler than normal blood cells. url:http://en.wikipedia.org/wiki/Hypochromic_anemia anonychia congenita DOID:0050643 HYPONYCHIA CONGENITA OMIM mapping confirmed by DO. [SN]. OMIM:206800 disease_ontology arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. DOID:0050644 OMIM:208000 OMIM:614473 ORDO:51608 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification url:http://www.omim.org/entry/208000 arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. DOID:0050645 OMIM mapping confirmed by DO. [SN]. OMIM:208050 disease_ontology A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. Arthrogryposis Multiplex Congenita DOID:0050646 Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant OMIM:108120 OMIM:108145 OMIM:108200 OMIM:114300 OMIM:121050 OMIM:121070 OMIM:158300 OMIM:178110 OMIM:187370 OMIM:193700 OMIM:601680 OMIM:609128 OMIM:614335 OMIM:615065 ORDO:1147 ORDO:97120 Sheldon-Hall syndrome Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A muscle tissue disease characterized by congenital joint contractures of hand and feet. url:http://en.wikipedia.org/wiki/Arthrogryposis Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. DOID:0050647 Lethal ataxia with deafness and optic atrophy OMIM mapping confirmed by DO. [SN]. OMIM:301835 disease_ontology An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. url:http://ghr.nlm.nih.gov/condition/arts-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK2591/ url:http://www.ncbi.nlm.nih.gov/pubmed/20301738 url:http://www.omim.org/entry/301835 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN atelosteogenesis DOID:0050648 OMIM mapping confirmed by DO. [SN]. OMIM:108720 OMIM:108721 OMIM:256050 disease_ontology atransferrinemia DOID:0050649 OMIM mapping confirmed by DO. [SN]. OMIM:209300 disease_ontology familial hypotransferrinemia familial atrial fibrillation ATFB An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. DOID:0050650 OMIM:607554 OMIM:608583 OMIM:608988 OMIM:611493 OMIM:611494 OMIM:612201 OMIM:612240 OMIM:613055 OMIM:613980 OMIM:614022 OMIM:614049 OMIM:614050 OMIM:615377 OMIM:615378 OMIM:615770 ORDO:334 Xref MGI. disease_ontology An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. AVCD AVSD DOID:0050651 ECD ICD10CM:Q21.2 ICD9CM:745.6 ICD9CM:745.60 MSH:D004694 OMIM:600309 OMIM:606215 OMIM:606217 OMIM:614430 OMIM:614474 ORDO:98722 SNOMEDCT_US_2015_03_01:15459006 SNOMEDCT_US_2015_03_01:204322008 SNOMEDCT_US_2015_03_01:204323003 SNOMEDCT_US_2015_03_01:204326006 SNOMEDCT_US_2015_03_01:204331008 UMLS_CUI:C0014116 Xref MGI. OMIM mapping confirmed by DO. [SN]. atrioventricular canal defect disease_ontology endocardial cushion defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html soft tissue cancer DOID:0050652 disease_ontology true dysplastic nevus DOID:0050653 disease_ontology nevus of Clark true Baller-Gerold syndrome A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. DOID:0050654 MSH:C536788 OMIM mapping confirmed by DO. [SN]. OMIM:218600 ORDO:1223 SNOMEDCT_US_2015_03_01:77608001 UMLS_CUI:C0265308 disease_ontology A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1204/ Bamforth-Lazarus syndrome DOID:0050655 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE OMIM mapping confirmed by DO. [SN]. OMIM:241850 disease_ontology pseudo-TORCH syndrome DOID:0050656 No OMIM mapping, confirmed by DO. [SN]. OMIM:251290 band-like calcification with simplified gyration and polymicrogyria disease_ontology Bannayan-Riley-Ruvalcaba syndrome BANNAYAN-ZONANA SYNDROME DOID:0050657 OMIM mapping confirmed by DO. [SN]. OMIM:153480 RILEY-SMITH SYNDROME RUVALCABA-MYHRE-SMITH SYNDROME disease_ontology Bart-Pumphrey syndrome DOID:0050658 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS OMIM mapping confirmed by DO. [SN]. OMIM:149200 disease_ontology biotin-responsive basal ganglia disease DOID:0050659 OMIM mapping confirmed by DO. [SN]. OMIM:607483 disease_ontology Beare-Stevenson cutis gyrata syndrome DOID:0050660 OMIM mapping confirmed by DO. [SN]. OMIM:123790 disease_ontology vitelliform macular dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. Best disease Best macular dystrophy DOID:0050661 ICD10CM:H35.5 OMIM:153700 OMIM:153840 OMIM:608161 OMIM:616151 OMIM:616152 ORDO:1243 ORDO:99000 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology juvenile-onset vitelliform macular dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy bestrophinopathy DOID:0050662 OMIM mapping confirmed by DO. [SN]. OMIM:611809 autosomal recessive bestrophinopathy disease_ontology Bethlem myopathy DOID:0050663 OMIM mapping confirmed by DO. [SN]. OMIM:158810 benign congenital muscular dystrophy disease_ontology Bietti crystalline corneoretinal dystrophy Bietti's crystalline dystrophy DOID:0050664 OMIM mapping confirmed by DO. [SN]. OMIM:210370 disease_ontology fetal alcohol syndrome A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. DOID:0050665 disease_ontology A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf url:http://www.cdc.gov/ncbddd/fasd/facts.html partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. DOID:0050666 disease_ontology A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf alcohol-related neurodevelopmental disorder A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. ARND DOID:0050667 disease_ontology static encephalopathy A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf alcohol-related birth defect A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. ARBD DOID:0050668 disease_ontology A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf url:http://www.cdc.gov/ncbddd/fasd/facts.html spastic cerebral palsy A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. DOID:0050669 disease_ontology A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. url:http://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html ataxic cerebral palsy A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. DOID:0050670 disease_ontology hypotonic cerebral palsy A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html female breast cancer 2011-06-15T02:48:20Z DOID:0050671 disease_ontology snadendla dyskinetic cerebral palsy A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. Athetoid Dyskinetic Cerebral Palsy DOID:0050672 disease_ontology A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic mixed cerebral palsy A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. DOID:0050673 disease_ontology A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html congenital bile acid synthesis defect 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA DOID:0050674 ICD10CM:K76.8 OMIM:214950 OMIM:235555 OMIM:607765 OMIM:613812 ORDO:79095 ORDO:79301 ORDO:79302 ORDO:79303 Xref MGI. OMIM mapping confirmed by DO. [SN]. cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency disease_ontology Birk-Barel syndrome BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME DOID:0050675 OMIM mapping confirmed by DO. [SN]. OMIM:612292 disease_ontology Birt-Hogg-Dube syndrome DOID:0050676 OMIM mapping confirmed by DO. [SN]. OMIM:135150 disease_ontology Bjornstad syndrome DOID:0050677 OMIM mapping confirmed by DO. [SN]. OMIM:262000 disease_ontology Blau syndrome ARTHROCUTANEOUVEAL GRANULOMATOSIS An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. DOID:0050678 Jabs syndrome NCI:C116794 OMIM mapping confirmed by DO. [SN]. OMIM:186580 SNOMEDCT:699861000 disease_ontology An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. url:http://en.wikipedia.org/wiki/Blau_syndrome url:http://www.omim.org/entry/186580?search=186580&highlight=186580 blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. DOID:0050679 OMIM mapping confirmed by DO. [SN]. OMIM:303700 disease_ontology An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. url:http://omim.org/entry/303700 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 Boomerang dysplasia DOID:0050680 OMIM mapping confirmed by DO. [SN]. OMIM:112310 disease_ontology Borjeson-Forssman-Lehmann syndrome An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. BORJESON SYNDROME DOID:0050681 MSH:C536575 OMIM mapping confirmed by DO. [SN]. OMIM:301900 SNOMEDCT_US_2015_03_01:21634003 UMLS_CUI:C0265339 disease_ontology An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. url:http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1 url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html Athabaskan brainstem dysgenesis syndrome DOID:0050682 NAVAJO BRAINSTEM SYNDROME OMIM mapping confirmed by DO. [SN]. OMIM:601536 disease_ontology Bothnia retinal dystrophy DOID:0050683 OMIM mapping confirmed by DO. [SN]. OMIM:607475 Vasterbotten dystrophy disease_ontology Bowen-Conradi syndrome DOID:0050684 OMIM mapping confirmed by DO. [SN]. OMIM:211180 disease_ontology small cell carcinoma 2011-06-13T01:25:14Z A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. DOID:0050685 DOID:7137 NCI:C4099 SNOMEDCT_US_2015_03_01:189557009 SNOMEDCT_US_2015_03_01:5958006 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell (morphologic abnormality) UMLS_CUI:C0334239 disease_ontology intermediate cell small cell carcinoma snadendla SNOMEDCT_2005_07_31:189557009 Small cell carcinoma - intermediate cell SNOMEDCT_2005_07_31:5958006 Small cell carcinoma, intermediate cell (morphologic abnormality) A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma organ system cancer 2011-06-13T03:28:33Z A cancer that is classified based on the organ it starts in. DOID:0050686 disease_ontology snadendla A cancer that is classified based on the organ it starts in. url:http://cancerguide.org/basic.html cell type cancer 2011-06-13T03:28:50Z A cancer that is classified by the type of cell from which it is derived. DOID:0050687 disease_ontology snadendla A cancer that is classified by the type of cell from which it is derived. url:http://cancerguide.org/basic.html url:http://en.wikipedia.org/wiki/Cancer anal canal cancer 2011-06-14T01:34:36Z A large intestine cancer that is located_in the terminal part of the large intestine. DOID:0050688 disease_ontology snadendla A large intestine cancer that is located_in the terminal part of the large intestine. url:http://en.wikipedia.org/wiki/Anal_canal brachydactyly-syndactyly syndrome 2011-06-17T03:55:47Z DOID:0050689 OMIM mapping confirmed by DO. [SN]. OMIM:610713 disease_ontology snadendla brachyolmia 2011-06-17T04:00:27Z An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. DOID:0050690 OMIM:113500 OMIM:271530 OMIM:271630 OMIM:613678 ORDO:1293 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachyrachia disease_ontology snadendla An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. url:http://www.ncbi.nlm.nih.gov/pubmed/10968486 branchiooculofacial syndrome 2011-06-17T04:10:18Z An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. DOID:0050691 OMIM mapping confirmed by DO. [SN]. OMIM:113620 disease_ontology snadendla An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK55063/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract Brody myopathy 2011-06-17T04:30:49Z DOID:0050692 OMIM mapping confirmed by DO. [SN]. OMIM:601003 disease_ontology snadendla Brooke-Spiegler syndrome 2011-06-17T04:34:10Z DOID:0050693 OMIM mapping confirmed by DO. [SN]. OMIM:605041 disease_ontology snadendla Brown-Vialetto-Van Laere syndrome 2011-06-17T04:38:07Z DOID:0050694 OMIM mapping confirmed by DO. [SN]. OMIM:211530 disease_ontology snadendla malignant pleural solitary fibrous tumor 2011-06-27T09:57:44Z DOID:0050695 disease_ontology snadendla fetal alcohol spectrum disorder 2011-12-01T01:01:25Z A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. DOID:0050696 disease_ontology lschriml A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://www.cdc.gov/ncbddd/fasd/facts.html chorioamnionitis 2012-01-03T01:13:08Z A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. DOID:0050697 disease_ontology lschriml A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. url:http://en.wikipedia.org/wiki/Chorioamnionitis url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis funisitis 2012-01-03T01:18:35Z A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. DOID:0050698 disease_ontology lschriml A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. url:http://en.wikipedia.org/wiki/Funisitis Dent disease 2015-03-12T14:32:47Z A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. DOID:0050699 Dent disease 1 Dent disease 2 Dent's disease MSH:C538212 MSH:C564487 MSH:D057973 OMIM:300009 OMIM:300555 ORDO:1652 SNOMEDCT_US_2015_03_01:444645005 UMLS_CUI:C0878681 UMLS_CUI:C1845167 UMLS_CUI:C1848336 disease_ontology lschriml A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. url:http://en.wikipedia.org/wiki/Dent%27s_disease url:http://ghr.nlm.nih.gov/condition/dent-disease url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 cardiomyopathy 2012-01-03T02:54:11Z A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. Cardiomyopathies DOID:0050700 ICD10CM:I42 ICD10CM:I42.9 ICD10CM:I51.5 ICD9CM:425 ICD9CM:425.9 MSH:D009202 MSH:D009202 added from NeuroDevNet [WAK]. NCI:C34830 NCI:C53654 SNOMEDCT_US_2015_03_01:155351008 SNOMEDCT_US_2015_03_01:155353006 SNOMEDCT_US_2015_03_01:195035002 SNOMEDCT_US_2015_03_01:195037005 SNOMEDCT_US_2015_03_01:20072003 SNOMEDCT_US_2015_03_01:266244008 SNOMEDCT_US_2015_03_01:266301006 SNOMEDCT_US_2015_03_01:57809008 SNOMEDCT_US_2015_03_01:85898001 SNOMEDCT_US_2015_03_01:89461002 SNOMEDCT_US_2015_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 disease_ontology lschriml A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ Cardiomyopathies MSH:D009202 electroclinical syndrome 2012-04-11T11:42:46Z An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. DOID:0050701 disease_ontology electro-clinical syndrome lschriml An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 neonatal period electroclinical syndrome 2012-04-11T11:48:18Z An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. DOID:0050702 disease_ontology lschriml An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 url:http://www.ncbi.nlm.nih.gov/pubmed/22182677 infancy electroclinical syndrome 2012-04-11T11:48:18Z An electroclinical syndrome with onset in infancy occurring between birth and one year of age. DOID:0050703 disease_ontology lschriml An electroclinical syndrome with onset in infancy occurring between birth and one year of age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 childhood electroclinical syndrome 2012-04-11T11:48:18Z An electroclinical syndrome with onset in childhood between one and 12 years of age. DOID:0050704 disease_ontology lschriml An electroclinical syndrome with onset in childhood between one and 12 years of age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 adolescence-adult electroclinical syndrome 2012-04-11T11:48:18Z An electroclinical syndrome with onset in adolescence and adulthood. DOID:0050705 disease_ontology lschriml An electroclinical syndrome with onset in adolescence and adulthood. JA:Epilepsy_Genetics_Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 variable age at onset electroclinical syndrome 2012-04-11T11:48:18Z DOID:0050706 disease_ontology lschriml nonsyndromic epilepsy 2012-04-11T01:42:13Z DOID:0050707 disease_ontology lschriml true early onset absence epilepsy 2012-04-11T02:29:04Z A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. DOID:0050708 disease_ontology lschriml A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org Ohtahara syndrome 2012-05-10T10:02:58Z A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. DOID:0050709 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 Early Infantile Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy with Burst-Suppression OMIM:300088 OMIM:300607 OMIM:300672 OMIM:308350 OMIM:609304 OMIM:612164 OMIM:613402 OMIM:613477 OMIM:613720 OMIM:613721 OMIM:613722 OMIM:614558 OMIM:614959 OMIM:615006 OMIM:615338 OMIM:615473 OMIM:615476 disease_ontology lschriml A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. url:http://en.wikipedia.org/wiki/Ohtahara_syndrome url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm 3-Methylcrotonyl-CoA carboxylase deficiency 2012-05-22T10:32:44Z 3-Methylcrotonylglycinuria 3MCC deficiency An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. BMCC deficiency DOID:0050710 OMIM:210200 OMIM:210210 disease_ontology lschriml An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency url:http://omim.org/entry/210200 aceruloplasminemia 2012-05-22T11:47:25Z An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. DOID:0050711 OMIM:604290 disease_ontology lschriml An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. url:http://en.wikipedia.org/wiki/Aceruloplasminemia url:http://omim.org/entry/604290?search=604290&highlight=604290 AGAT deficiency 2012-05-22T11:53:57Z An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. CEREBRAL CREATINE DEFICIENCY SYNDROME 3 DOID:0050712 OMIM:612718 arginine:glycine amidinotransferase deficiency disease_ontology lschriml An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency url:http://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat fatal infantile encephalocardiomyopathy 2012-05-22T01:03:41Z A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. DOID:0050713 OMIM:604377 OMIM:615119 ORDO:1561 Xref MGI. cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency disease_ontology fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency lschriml A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. url:http://omim.org/entry/604377 methylmalonic aciduria and homocystinuria type cblC 2012-05-23T03:26:25Z A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. Cobalamin C deficiency DOID:0050715 OMIM:277400 disease_ontology lschriml A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. url:http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 methylmalonic aciduria and homocystinuria type cblD 2012-05-23T03:26:25Z A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. Cobalamin D deficiency DOID:0050716 OMIM:277410 disease_ontology lschriml A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. url:http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 url:http://www.ncbi.nlm.nih.gov/pubmed/18385497 methylmalonic aciduria and homocystinuria type cblF 2012-05-23T03:26:25Z A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Cobalamin F deficiency DOID:0050717 OMIM:277380 disease_ontology lschriml A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). url:http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CFMQFjAB&url=http%3A%2F%2Fpreventiongenetics.com%2FClinicalTesting%2FTestDescriptions%2FLMBRD1.pdf&ei=hzv3T__xH4qk6wGIlqn2Bg&usg=AFQjCNEq6PEmU_PvWZSYQVIf2Uhf7Qxp7w&sig2=Ed-CTWsLgGVSkht-OW43gA vitamin metabolic disorder 2012-06-11T02:44:53Z An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. DOID:0050718 disease_ontology lschriml An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism cerebral folate receptor alpha deficiency 2012-06-11T02:58:59Z A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. DOID:0050719 disease_ontology lschriml A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. url:http://en.wikipedia.org/wiki/B_vitamins url:http://www.ncbi.nlm.nih.gov/pubmed/19732866 ornithine translocase deficiency 2012-06-13T03:09:31Z An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. DOID:0050720 HHH syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome OMIM:238970 disease_ontology lschriml An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency url:http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx serine deficiency 2012-06-13T03:09:31Z An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. DOID:0050721 disease_ontology lschriml An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. url:http://www.ncbi.nlm.nih.gov/pubmed/15021249 PHGDH deficiency 2012-06-13T03:09:31Z A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. DOID:0050722 OMIM:601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY disease_ontology lschriml A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 url:http://www.omim.org/entry/601815 PSAT deficiency 2012-06-13T03:09:31Z A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. DOID:0050723 OMIM:610992 Phosphoserine aminotransferase deficiency disease_ontology lschriml A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ url:http://www.omim.org/entry/610992?search=610992&highlight=610992 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 PSPH deficiency 2012-06-13T03:09:31Z A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. DOID:0050724 OMIM:614023 PSPHD Phosphoserine phosphatase deficiency disease_ontology lschriml A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. url:http://en.wikipedia.org/wiki/PSPH url:http://www.omim.org/entry/614023 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 tyrosinemia type II 2012-06-13T03:09:31Z A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. DOID:0050725 OMIM:276600 Oculocutaneous tyrosinemia Richner-Hanhart syndrome disease_ontology lschriml A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II url:http://www.omim.org/entry/276600?search=276600&highlight=276600 tyrosinemia type I 2012-07-06T02:55:45Z A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. DOID:0050726 OMIM:276700 disease_ontology hepatorenal tyrosinemia lschriml A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia tyrosinemia type III 2012-07-06T02:55:45Z A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. DOID:0050727 OMIM:276710 disease_ontology lschriml A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia url:http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia glycogen metabolism disorder 2012-07-13T10:42:54Z A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. DOID:0050728 disease_ontology lschriml A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism neutral lipid storage disease 2012-07-17T12:31:48Z A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. Chanarin-Dorfman syndrome DOID:0050729 OMIM:275630 disease_ontology lschriml A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome coenzyme Q10 deficiency disease 2012-07-17T12:58:37Z A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. COENZYME Q10 DEFICIENCY, PRIMARY DOID:0050730 OMIM:607426 OMIM:612016 OMIM:614650 OMIM:614651 OMIM:614652 OMIM:614654 disease_ontology lschriml A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity vitamin B12 deficiency 2012-07-17T01:01:29Z A vitamin metabolic disorder that results from low blood levels of vitamin B12. DOID:0050731 cobalamin deficiency disease_ontology hypocobalaminemia lschriml A vitamin metabolic disorder that results from low blood levels of vitamin B12. url:http://en.wikipedia.org/wiki/B12_deficiency methylmalonic aciduria and homocystinuria type cblE 2012-07-17T01:42:35Z DOID:0050732 disease_ontology lschriml methylmalonic aciduria and homocystinuria type cblG 2012-07-17T01:42:35Z DOID:0050733 disease_ontology lschriml congenital intrinsic factor deficiency 2012-07-17T01:52:57Z A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. DOID:0050734 OMIM:261000 disease_ontology hereditary intrinsic factor deficiency lschriml A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. url:http://omim.org/entry/261000?search=261000&highlight=261000 url:http://www.ncbi.nlm.nih.gov/pubmed/14695536 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 X-linked disease 2012-07-24T12:47:31Z A monogenic disease that has_material_basis_in muations in genes on the X chromosome. DOID:0050735 disease_ontology lschriml A monogenic disease that has_material_basis_in muations in genes on the X chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns autosomal dominant disease 2012-07-24T12:51:47Z An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. DOID:0050736 disease_ontology lschriml An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm autosomal recessive disease 2012-07-24T12:51:47Z An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. DOID:0050737 disease_ontology lschriml An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm Y-linked disease 2012-07-24T12:51:47Z A monogenic disease that has_material_basis_in muations on the Y chromosome. DOID:0050738 disease_ontology lschriml A monogenic disease that has_material_basis_in muations on the Y chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked autosomal genetic disease 2012-07-24T04:45:53Z A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. DOID:0050739 disease_ontology lschriml A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns Qazi Markouizos syndrome 2012-08-10T01:08:47Z A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. DOID:0050740 Dysharmonic skeletal maturation - muscular fibre disproportion OMIM:600096 Qazi-Markouizos syndrome disease_ontology lschriml A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. url:http://omim.org/entry/600096 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 alcohol dependence 2012-09-05T11:48:42Z DOID:0050741 EFO:0003829 KEGG:05034 MSH:D010610 NCI:C3325 OMIM:103780 SNOMEDCT_US_2015_03_01:126685009 SNOMEDCT_US_2015_03_01:95001001 UMLS_CUI:C0031347 alcoholism disease_ontology lschriml nicotine dependence 2012-09-05T11:48:42Z DOID:0050742 EFO:0003768 ICD10CM:F17 ICD10CM:F17.2 ICD10CM:F17.20 MSH:D014029 NCI:C54203 OMIM:188890 SNOMEDCT_US_2015_03_01:56294008 UMLS_CUI:C0028043 disease_ontology lschriml tobacco use disorder NSH:D014029 tobacco use disorder mature T-cell and NK-cell lymphoma 2012-09-18T01:56:52Z A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. DOID:0050743 NK-T cell lymphoma disease_ontology lschriml mature T-cell and natural killer cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. url:http://www.cancer.gov/dictionary?CdrID=393800 url:http://www.cancer.gov/dictionary?CdrID=44062 url:http://www.ncbi.nlm.nih.gov/pubmed/21919697 anaplastic large cell lymphoma 2012-09-18T01:57:40Z A non-Hodgkin lymphoma involving aberrant T-cells. DOID:0050744 disease_ontology lschriml A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology diffuse large B-cell lymphoma 2012-09-18T01:58:25Z A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. DOID:0050745 disease_ontology lschriml A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma mantle cell lymphoma 2012-09-18T02:00:45Z A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. DOID:0050746 disease_ontology lschriml A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma lymphoplasmacytic lymphoma 2012-09-18T02:00:45Z A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. DOID:0050747 ICD10CM:C88.0 ICD9CM:273.3 MSH:D008258 NCI:C80307 OMIM:153600 OMIM:610430 ORDO:33226 SNOMEDCT_US_2015_03_01:109981009 SNOMEDCT_US_2015_03_01:154750002 SNOMEDCT_US_2015_03_01:190014001 SNOMEDCT_US_2015_03_01:190817009 SNOMEDCT_US_2015_03_01:190818004 SNOMEDCT_US_2015_03_01:190821002 SNOMEDCT_US_2015_03_01:267503004 SNOMEDCT_US_2015_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 Waldenström's macroglobulinemia Xref MGI. disease_ontology lschriml A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma marginal zone B-cell lymphoma 2012-09-18T02:00:45Z A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. DOID:0050748 disease_ontology lschriml marginal zone lymphoma A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma url:http://www.cancer.gov/dictionary?CdrID=562554 peripheral T-cell lymphoma 2012-09-18T02:01:49Z A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. DOID:0050749 disease_ontology lschriml A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma splenic marginal zone lymphoma 2012-09-18T02:03:06Z A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. DOID:0050750 disease_ontology lschriml A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma T-cell large granular lymphocyte leukemia 2012-09-18T02:05:41Z A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. DOID:0050751 Large granular lymphocytic leukemia disease_ontology lschriml A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia amyotrophic lateral sclerosis type 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. ALS8 DOID:0050752 OMIM:608627 amyotrophic lateral sclerosis 8 disease_ontology ALS8 OMIM:608627 OMIM:608627 amyotrophic lateral sclerosis 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. url:http://omim.org/entry/608627 utl:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis cerebellar ataxia 2013-01-16T01:07:02Z A cerebellar disease characterized by ataxia originating in the cerebellum. DOID:0050753 disease_ontology lschriml A cerebellar disease characterized by ataxia originating in the cerebellum. url:http://en.wikipedia.org/wiki/Cerebellar_ataxia ataxia with oculomotor apraxia type 1 2013-01-16T01:07:02Z DOID:0050754 OMIM:208920 disease_ontology lschriml ataxia with oculomotor apraxia type 2 2013-01-16T01:07:02Z DOID:0050755 disease_ontology lschriml Batten disease 2013-01-16T01:15:03Z DOID:0050756 disease_ontology juvenile neuronal ceroid lipofuscinosis lschriml deafness dystonia syndrome 2013-01-16T01:20:50Z A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. DOID:0050757 Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome (DDON) Dystonia Deafness Syndrome Mohr-Tranebjaerg Syndrome OMIM:304700 disease_ontology lschriml A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome url:http://omim.org/entry/304700 url:http://www.ncbi.nlm.nih.gov/books/NBK1216/ metabolic acidosis 2013-01-16T01:23:37Z A lactic acidosis that has_material_basis_in high levels of acid. DOID:0050758 disease_ontology lschriml A lactic acidosis that has_material_basis_in high levels of acid. url:http://en.wikipedia.org/wiki/Metabolic_acidosis myotonic dystrophy type 2 2013-01-16T01:27:31Z A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. DOID:0050759 ICD10CM:G71.1 ICD10CM:G71.19 ICD9CM:359.2 MSH:C538616 MSH:D020967 NCI:C84913 OMIM:602668 SNOMEDCT_US_2015_03_01:155096007 SNOMEDCT_US_2015_03_01:193237003 SNOMEDCT_US_2015_03_01:193240003 SNOMEDCT_US_2015_03_01:267713009 SNOMEDCT_US_2015_03_01:41574007 UMLS_CUI:C0221055 UMLS_CUI:C0553604 UMLS_CUI:C0752355 disease_ontology lschriml proximal myotonic myopathy A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/602668 url:http://www.ncbi.nlm.nih.gov/books/NBK1466/ url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple X-linked myopathy with excessive autophagy 2013-01-16T01:29:01Z DOID:0050760 XMEA disease_ontology lschriml paramyloidosis 2013-01-16T01:30:21Z DOID:0050761 disease_ontology lschriml adenylosuccinase lyase deficiency 2013-01-17T12:42:58Z DOID:0050762 disease_ontology lschriml ARC syndrome 2013-01-17T12:46:38Z A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.. ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis DOID:0050763 OMIM:208085 OMIM:613404 disease_ontology lschriml A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.. url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome url:http://omim.org/entry/208085 url:http://omim.org/entry/613404 url:http://www.ncbi.nlm.nih.gov/pubmed/16896922 url:http://www.ncbi.nlm.nih.gov/pubmed/22753090 url:http://www.ncbi.nlm.nih.gov/pubmed/24415890 url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697 Armfield syndrome 2013-01-17T12:48:15Z Armfield X-linked mental retardation syndrome DOID:0050764 MRXSA OMIM:300261 ORDO:85276 disease_ontology lschriml MRXSA OMIM:300261 Armfield X-linked mental retardation syndrome OMIM:300261 neuroacanthocytosis 2013-01-17T12:54:19Z DOID:0050765 disease_ontology lschriml chorea-acanthocytosis 2013-01-17T12:54:19Z DOID:0050766 disease_ontology lschriml midface dysplasia 2013-02-21T11:19:14Z DOID:0050767 disease_ontology lschriml mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 2013-02-21T11:26:46Z A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. DOID:0050768 ICD10CM:E88.8 MC5DN1 OMIM:604273 ORDO:254913 disease_ontology lschriml A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. url:http://omim.org/entry/604273 N syndrome 2013-02-21T11:32:26Z DOID:0050769 NSX OMIM:310465 Orphanet:ORPHA2608 disease_ontology lschriml NSX OMIM:310465 polycystic liver disease 2013-02-21T11:36:13Z DOID:0050770 OMIM:174050 disease_ontology lschriml phaeochromocytoma 2013-02-21T11:40:58Z DOID:0050771 OMIM:171300 disease_ontology lschriml spastic ataxia 1 2015-09-17T14:42:06Z DOID:0050772 OMIM:108600 disease_ontology lschriml paraganglioma 2013-02-21T11:51:57Z DOID:0050773 MSH:D010235 NCI:C3308 OMIM:116310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 SNOMEDCT_US_2015_03_01:127027008 SNOMEDCT_US_2015_03_01:189743009 SNOMEDCT_US_2015_03_01:253029009 SNOMEDCT_US_2015_03_01:302833002 SNOMEDCT_US_2015_03_01:72787006 SNOMEDCT_US_2015_03_01:803009 UMLS_CUI:C0030421 Xref MGI. chemodectoma disease_ontology lschriml rapadilino syndrome 2013-02-21T11:56:15Z DOID:0050774 OMIM:266280 disease_ontology lschriml schneckenbecken dysplasia 2013-02-21T12:00:39Z DOID:0050775 OMIM:269250 disease_ontology lschriml non-syndromic X-linked intellectual disability 2013-02-21T12:06:40Z A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. DOID:0050776 MENTAL RETARDATION, X-LINKED 95 MRX OMIM:300046 OMIM:300047 OMIM:300062 OMIM:300114 OMIM:300115 OMIM:300143 OMIM:300210 OMIM:300271 OMIM:300324 OMIM:300355 OMIM:300372 OMIM:300387 OMIM:300428 OMIM:300433 OMIM:300436 OMIM:300454 OMIM:300498 OMIM:300504 OMIM:300505 OMIM:300518 OMIM:300551 OMIM:300558 OMIM:300577 OMIM:300659 OMIM:300716 OMIM:300802 OMIM:300803 OMIM:300844 OMIM:300848 OMIM:300849 OMIM:300850 OMIM:300851 OMIM:300852 OMIM:300912 OMIM:300919 OMIM:300923 OMIM:309530 OMIM:309549 ORDO:777 Xref MGI. disease_ontology lschriml non-specific X-linked mental retardation A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/7011032 Joubert syndrome 2013-04-04T11:25:32Z A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. DOID:0050777 JBTS OMIM:213300 OMIM:300804 OMIM:608091 OMIM:608629 OMIM:609583 OMIM:610188 OMIM:610688 OMIM:611560 OMIM:612285 OMIM:612291 OMIM:614173 OMIM:614424 OMIM:614464 OMIM:614465 OMIM:614615 OMIM:614815 OMIM:614970 OMIM:615636 OMIM:615665 OMIM:616654 ORDO:475 Xref MGI. disease_ontology lschriml A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. url:http://en.wikipedia.org/wiki/Joubert_syndrome url:http://omim.org/entry/213300?search=joubert&highlight=joubert url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple Meckel syndrome 2013-04-04T11:28:16Z A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. DOID:0050778 ICD9CM:753.1 ICD9CM:753.10 Meckel-Gruber syndrome OMIM:249000 OMIM:267010 OMIM:603194 OMIM:607361 OMIM:611134 OMIM:611561 OMIM:612284 OMIM:613885 OMIM:614175 OMIM:614209 OMIM:615397 ORDO:564 SNOMEDCT_US_2015_03_01:204954005 SNOMEDCT_US_2015_03_01:204966004 SNOMEDCT_US_2015_03_01:236440007 SNOMEDCT_US_2015_03_01:82525005 UMLS_CUI:C0311245 Xref MGI. disease_ontology lschriml A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. url:http://en.wikipedia.org/wiki/Meckel_syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract hydrolethalus syndrome 2013-06-24T12:50:06Z An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. DOID:0050779 ICD10CM:Q87.8 OMIM:236680 OMIM:614120 ORDO:2189 Salonen-Herva-Norio syndrome Xref MGI. disease_ontology lschriml An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 url:http://www.ncbi.nlm.nih.gov/pubmed/15843405 Opitz-GBBB syndrome 2013-06-24T01:18:03Z A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. DOID:0050780 KEGG:H00583 OMIM:145410 OMIM:300000 Opitz G/BBB Syndrome disease_ontology lschriml A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583 url:http://www.ncbi.nlm.nih.gov/books/NBK1327/ url:http://www.ncbi.nlm.nih.gov/books/NBK1523/ url:http://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb Ogden syndrome 2013-07-17T10:18:00Z An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. DOID:0050781 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency OGDNS OMIM:300013 OMIM:300855 X-linked Malformation and Infantile Lethality Syndrome disease_ontology lschriml An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. url:http://en.wikipedia.org/wiki/N-acetyltransferase url:http://en.wikipedia.org/wiki/NatA_Acetyltransferase url:http://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1 url:http://repository.cshl.edu/id/eprint/27483 url:http://www.nature.com/news/2011/110623/full/news.2011.382.html url:http://www.ncbi.nlm.nih.gov/gene/8260 url:http://www.ncbi.nlm.nih.gov/pubmed/21700266 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432 url:www.omim.org/entry/300855?search=300855 Zollinger-Ellison Syndrome 2013-10-23T12:51:49Z A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. DOID:0050782 ICD10CM:E16.4 MSH:D015043 NCI:C3453 SNOMEDCT_US_2015_03_01:154694003 SNOMEDCT_US_2015_03_01:190443003 SNOMEDCT_US_2015_03_01:267477002 SNOMEDCT_US_2015_03_01:53132006 UMLS_CUI:C0043515 disease_ontology lschriml A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. url:http://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/ url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract secondary progressive multiple sclerosis 2013-11-07T11:22:49Z A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. DOID:0050783 MSH:D020528 SNOMEDCT_US_2015_03_01:425500002 SPMS Secondary-progressive MS UMLS_CUI:C0751965 disease_ontology lschriml A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms primary progressive multiple sclerosis 2013-11-07T11:26:58Z A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. DOID:0050784 MSH:D020528 PPMS Primary-progressive MS SNOMEDCT_US_2015_03_01:428700003 UMLS_CUI:C0751964 disease_ontology lschriml A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx progressive relapsing multiple sclerosis 2013-11-07T11:32:37Z A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. DOID:0050785 MSH:D020528 PRMS Progressive-relapsing MS SNOMEDCT_US_2015_03_01:230374002 UMLS_CUI:C0393666 disease_ontology lschriml A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx iridogoniodysgenesis syndrome 2013-11-12T10:28:51Z An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. DOID:0050786 IGDS IRID 1 IRID 2 OMIM:137600 OMIM:601631 ORDO:98634 Xref MGI. disease_ontology iridogoniodysgenesis type 1 iridogoniodysgenesis type 2 lschriml An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome url:http://rarediseases.info.nih.gov/gard/3026/disease/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/19175065 juvenile polyposis syndrome 2013-11-12T11:25:28Z An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. DOID:0050787 OMIM:174900 disease_ontology lschriml An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1469/ proximal symphalangism 2013-11-12T11:43:22Z An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. Cushing's symphalangism DOID:0050788 KEGG:H00484 OMIM:185800 disease_ontology lschriml An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. url:http://omim.org/entry/185800?search=185800&highlight=185800 url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250 tarsal-carpal coalition syndrome 2013-11-12T11:50:00Z An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. DOID:0050789 OMIM:186570 disease_ontology lschriml An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome url:http://omim.org/entry/186570?search=186570&highlight=186570 url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/22326510 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 fibular hypoplasia and complex brachydactyly 2013-11-12T12:21:56Z An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. DOID:0050790 Du Pan syndrome KEGG:H00467 OMIM:228900 disease_ontology lschriml An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. url:http://omim.org/entry/228900?search=228900&highlight=228900 url:http://www.ncbi.nlm.nih.gov/pubmed/16222676 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple persistent mullerian duct syndrome 2013-11-12T12:26:49Z A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. DOID:0050791 MSH:C536665 OMIM:261550 SNOMEDCT_US_2015_03_01:702358005 UMLS_CUI:C1849930 disease_ontology lschriml A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome url:http://omim.org/entry/261550?search=261550&highlight=261550 url:http://www.ncbi.nlm.nih.gov/pubmed/20352001 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 multiple cutaneous and mucosal venous malformations 2013-11-12T12:38:33Z An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. DOID:0050792 OMIM:600195 disease_ontology lschriml An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. url:http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations url:http://omim.org/entry/600195?search=600195&highlight=600195 url:http://www.ncbi.nlm.nih.gov/pubmed/20301733 short QT syndrome 2013-11-12T12:59:42Z An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. DOID:0050793 OMIM:609620 OMIM:609621 OMIM:609622 disease_ontology lschriml An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. url:http://en.wikipedia.org/wiki/Short_QT_syndrome url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome url:http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 multiple synostoses syndrome 2013-11-12T01:08:42Z A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. DOID:0050794 OMIM:186500 OMIM:610017 OMIM:612961 disease_ontology lschriml A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237 cone dystrophy 2013-11-12T01:19:22Z A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. DOID:0050795 OMIM:180020 OMIM:610024 OMIM:610356 OMIM:610478 OMIM:613093 disease_ontology lschriml retinal cone dystrophy A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. url:http://en.wikipedia.org/wiki/Cone_dystrophy url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ achalasia microcephaly syndrome 2013-11-20T03:01:06Z ACHALASIA-MICROCEPHALY SYNDROME Achalasia microcephaly An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). DOID:0050796 MSH:C536010 OMIM:200450 UMLS_CUI:C1860212 disease_ontology lschriml An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). url:http://omim.org/entry/200450 url:http://rarediseases.info.nih.gov/gard/456/disease/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN peroxisomal acyl-CoA oxidase deficiency 2013-11-21T10:47:41Z A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. DOID:0050797 MSH:C536662 OMIM:264470 Peroxisomal acyl-coenzyme A oxidase UMLS_CUI:C1849678 disease_ontology lschriml A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. url:http://www.ncbi.nlm.nih.gov/pubmed/11815777 url:http://www.ncbi.nlm.nih.gov/pubmed/17458872 url:http://www.ncbi.nlm.nih.gov/pubmed/18536048 url:http://www.omim.org/entry/264470 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 cerebral creatine deficiency syndrome 2013-11-21T12:10:58Z DOID:0050798 disease_ontology lschriml guanidinoacetate methyltransferase deficiency 2013-11-21T12:10:58Z CEREBRAL CREATINE DEFICIENCY SYNDROME 2 DOID:0050799 GAMT deficiency OMIM:612736 disease_ontology lschriml creatine transporter deficiency 2013-11-21T12:10:58Z CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 OMIM:300352 SLC6A8 deficiency disease_ontology lschriml androgenic alopecia 2013-11-21T12:48:07Z DOID:0050801 OMIM:109200 OMIM:300710 OMIM:612421 alopecia androgenetica, male pattern baldness androgenetic alopecia disease_ontology lschriml Ehlers-Danlos syndrome progeroid type 2013-12-02T11:55:24Z An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. DOID:0050802 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 ICD10CM:Q79.6 MSH:C536201 OMIM:130070 OMIM:615349 ORDO:75496 UMLS_CUI:C1869122 XGPT deficiency defective biosynthesis of proteodermatan sulfate disease_ontology lschriml xylosylprotein 4-beta-galactosyltransferase deficiency An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm url:http://www.omim.org/entry/615349?search=130070&highlight=130070 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type glioblastoma classical subtype 2013-12-02T12:40:57Z A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. DOID:0050803 disease_ontology lschriml A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 glioblastoma proneural subtype 2013-12-02T12:40:57Z A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. DOID:0050804 disease_ontology lschriml A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 glioblastoma mesenchymal subtype 2013-12-02T12:40:57Z A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. DOID:0050805 disease_ontology lschriml A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 glioblastoma neural subtype 2013-12-02T12:40:57Z A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. DOID:0050806 disease_ontology lschriml A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 Kahrizi syndrome 2013-12-02T02:28:58Z An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. DOID:0050807 OMIM:612713 disease_ontology lschriml An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. url:http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 mucopolysaccharidosis IV 2013-12-02T02:56:58Z DOID:0050808 disease_ontology lschriml true mucopolysaccharidosis IX 2013-12-02T02:56:58Z A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. DOID:0050809 OMIM:601492 disease_ontology lschriml A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII biotin deficiency 2013-12-02T03:46:44Z A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. B7 deficiency DOID:0050810 disease_ontology lschriml A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. url:http://en.wikipedia.org/wiki/Biotin_deficiency url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html congenital adrenal hyperplasia 2013-12-04T12:52:02Z A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. DOID:0050811 ICD10CM:E25 ICD10CM:E25.9 ICD9CM:255.2 OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 ORDO:418 SNOMEDCT_US_2015_03_01:154706003 SNOMEDCT_US_2015_03_01:190510000 SNOMEDCT_US_2015_03_01:190519004 SNOMEDCT_US_2015_03_01:267395000 UMLS_CUI:C0701163 Xref MGI. adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia disease_ontology lipoid CAH lschriml A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. url:http://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160& url:http://omim.org/entry/201710 url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 spondyloepimetaphyseal dysplasia, Pakistani type 2013-12-04T01:24:55Z A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. DOID:0050812 OMIM:612847 disease_ontology lschriml spondyloepimetaphyseal dysplasia Pakistani type A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. url:http://omim.org/entry/612847 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 spondyloepiphyseal dysplasia with congenital joint dislocations 2013-12-04T01:30:01Z A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia DOID:0050813 Humero-spinal dysostosis with congenital heart disease Humerospinal Dysostosis Humerospinal dysostosis Kozlowski Celermajer Tink syndrome OMIM:143095 Omani Type Spondyloepiphyseal Dysplasia disease_ontology lschriml A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. url:http://omim.org/entry/143095?search=143095&highlight=143095 url:http://www.informatics.jax.org/disease/143095 url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/ url:http://www.uniprot.org/diseases/DI-01753 temtamy preaxial brachydactyly syndrome 2013-12-05T12:12:10Z An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. DOID:0050814 OMIM:605282 PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE disease_ontology lschriml An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/21129728 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 url:http://www.sciencedirect.com/science/article/pii/S1769721213002449 eye adnexa disease 2013-12-05T12:55:42Z An eye and adnexa disease that is located_in the adnexa of the eye. DOID:0050815 disease_ontology lschriml An eye and adnexa disease that is located_in the adnexa of the eye. url:http://en.wikipedia.org/wiki/Accessory_visual_structures urofacial syndrome 2013-12-05T01:10:52Z An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. DOID:0050816 OMIM:236730 OMIM:615112 Ochoa syndrome disease_ontology hydronephrosis with peculiar facial expression lschriml An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. url:http://en.wikipedia.org/wiki/Urofacial_syndrome url:http://omim.org/entry/236730 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 Stargardt disease 2013-12-11T01:49:54Z An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. DOID:0050817 OMIM:248200 OMIM:600110 OMIM:603786 STARGARDT DISEASE 1 disease_ontology lschriml An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. url:http://en.wikipedia.org/wiki/Stargardt_disease transcobalamin II deficiency 2013-12-11T02:48:06Z A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. DOID:0050818 OMIM:275350 TCN2 deficiency disease_ontology lschriml A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. url:http://omim.org/entry/275350 url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf Matthew-Wood syndrome 2013-12-11T03:11:49Z An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. DOID:0050819 MCOPS9 OMIM:601186 disease_ontology lschriml microphthalmia syndromic type 9 An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. url:http://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22 url:http://www.ncbi.nlm.nih.gov/pubmed/17236193 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470 atrioventricular block 2014-02-12T01:35:05Z A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. AV block DOID:0050820 ICD10CM:I44.3 ICD10CM:I44.30 ICD9CM:426.10 MSH:D054537 NCI:C26703 SNOMEDCT_US_2015_03_01:195040005 SNOMEDCT_US_2015_03_01:195043007 SNOMEDCT_US_2015_03_01:233917008 SNOMEDCT_US_2015_03_01:58547007 UMLS_CUI:C0004245 disease_ontology lschriml A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. url:http://en.wikipedia.org/wiki/Atrioventricular_block first-degree atrioventricular block 2014-02-12T01:39:42Z DOID:0050821 disease_ontology lschriml second-degree atrioventricular block 2014-02-12T01:39:42Z DOID:0050822 disease_ontology lschriml second-degree heart block third-degree atrioventricular block 2014-02-12T01:39:42Z DOID:0050823 complete AV block disease_ontology lschriml sinoatrial node disease 2014-02-12T01:47:54Z A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. DOID:0050824 SA node disease_ontology lschriml sinuatrial node A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. url:http://en.wikipedia.org/wiki/Sinoatrial_node endocardium disease 2014-02-12T01:53:42Z A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. DOID:0050825 disease_ontology lschriml A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. url:http://en.wikipedia.org/wiki/Endocardium url:http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604,d.dmQ&cad=rja tricuspid valve disease 2014-02-12T02:55:24Z DOID:0050826 DOID:13834 ICD10CM:I07 ICD10CM:I07.9 ICD9CM:397.0 RH. tricuspid valve disease Rheumatic disease of tricuspid valve (disorder) Rheumatic tricuspid valve disease NOS (disorder) SNOMEDCT_US_2015_03_01:155289000 SNOMEDCT_US_2015_03_01:194745002 SNOMEDCT_US_2015_03_01:266282000 SNOMEDCT_US_2015_03_01:49699002 Tricuspid disease UMLS_CUI:C0264776 disease of tricuspid valve disease_ontology lschriml rheumatic tricuspid valve disease MTHICD9_2006:397.0 Tricuspid disease ICD9CM_2006:397.0 disease of tricuspid valve Rheumatic disease of tricuspid valve (disorder) SNOMEDCT_2005_07_31:49699002 Rheumatic tricuspid valve disease NOS (disorder) SNOMEDCT_2005_07_31:194745002 RH. tricuspid valve disease SNOMEDCT_2005_07_31:155289000 SNOMEDCT_2005_07_31:266282000 rheumatic heart disease 2014-02-12T03:03:38Z A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. DOID:0050827 disease_ontology lschriml A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease artery disease 2014-02-12T03:08:35Z A vascular disease that is located_in an artery. DOID:0050828 disease_ontology lschriml A vascular disease that is located_in an artery. url:http://en.wikipedia.org/wiki/Artery#Pathology pericardium disease 2014-02-18T12:20:15Z A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. DOID:0050829 disease_ontology lschriml A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. url:http://en.wikipedia.org/wiki/Pericardium peripheral artery disease 2014-02-18T12:41:09Z An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. DOID:0050830 disease_ontology lschriml An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ familial encephalopathy with neuroserpin inclusion bodies 2014-02-24T10:14:57Z A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. DOID:0050831 FENIB OMIM:604218 disease_ontology lschriml A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies url:http://www.jbc.org/content/277/19/17367 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport pyrimidine metabolic disorder 2014-02-24T10:29:22Z An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. DOID:0050832 disease_ontology lschriml An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9 orotic aciduria 2014-02-24T10:29:22Z A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. DOID:0050833 OMIM:258900 disease_ontology lschriml A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. url:http://en.wikipedia.org/wiki/Orotic_aciduria url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9 url:http://www.omim.org/entry/258900 CHARGE syndrome 2014-03-18T11:58:38Z A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. CHARGE association DOID:0050834 ICD10:Q89.8 MSH:D058747 NCI:C75100 OMIM:214800 ORDO:138 SNOMEDCT_US_2015_03_01:394529000 SNOMEDCT_US_2015_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 disease_ontology lschriml A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. url:http://en.wikipedia.org/wiki/CHARGE_syndrome url:http://ghr.nlm.nih.gov/condition/charge-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract generalized dystonia 2014-03-18T01:13:36Z A dystonia that affects most or all of the body. DOID:0050835 DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 Dystonia 12 Dystonia lenticularis (disorder) Dystonia, deformans progressiva Familiar Dystonia Familiar Idiopathic Dystonia ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 Idiopathic Torsion Dystonia Idiopathic familial dystonia Idiopathic familial dystonia (disorder) Idiopathic non-familial dystonia (disorder) Idiopathic torsion dystonia Idiopathic torsion dystonia (disorder) MSH:C538001 added from NeuroDevNet [WAK]. MSH:D004422 MSH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 Non-familiar Idiopathic Dystonia OMIM:128100 SNOMEDCT_US_2015_03_01:155008004 SNOMEDCT_US_2015_03_01:192852006 SNOMEDCT_US_2015_03_01:192853001 SNOMEDCT_US_2015_03_01:192858005 SNOMEDCT_US_2015_03_01:192859002 SNOMEDCT_US_2015_03_01:192862004 SNOMEDCT_US_2015_03_01:22451001 SNOMEDCT_US_2015_03_01:230318005 SNOMEDCT_US_2015_03_01:230321007 SNOMEDCT_US_2015_03_01:267584007 SNOMEDCT_US_2015_03_01:431034009 SNOMEDCT_US_2015_03_01:55776008 SNOMEDCT_US_2015_03_01:57937000 Symptomatic torsion dystonia (disorder) Symptomatic torsion dystonia NOS (disorder) UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 disease_ontology dystonia deformans progressiva dystonia musculorum deformans familial dystonia fragments of torsion dystonia idiopathic familial dystonia idiopathic non-familial dystonia lschriml symptomatic torsion dystonia A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Familiar Idiopathic Dystonia NCI2004_11_17:C35437 ICD9CM_2006:333.6 Idiopathic torsion dystonia SNOMEDCT_2005_07_31:155008004 NCI2004_11_17:C35438 Non-familiar Idiopathic Dystonia Idiopathic Torsion Dystonia NCI2004_11_17:C34564 Dystonia 12 MSH:C538001 CSP2005:2057-3370 dystonia deformans progressiva SNOMEDCT_2005_07_31:55776008 Symptomatic torsion dystonia (disorder) Idiopathic familial dystonia SNOMEDCT_2005_07_31:192852006 Familiar Dystonia NCI2004_11_17:C35527 SNOMEDCT_2005_07_31:192858005 Symptomatic torsion dystonia NOS (disorder) Idiopathic non-familial dystonia (disorder) SNOMEDCT_2005_07_31:230321007 Dystonia lenticularis (disorder) SNOMEDCT_2005_07_31:52274002 Idiopathic familial dystonia (disorder) SNOMEDCT_2005_07_31:230318005 Dystonia, deformans progressiva MTHICD9_2006:333.6 Idiopathic torsion dystonia (disorder) SNOMEDCT_2005_07_31:22451001 focal dystonia 2014-03-18T01:13:36Z A dystonia that is localized to a specific part of the body. DOID:0050836 disease_ontology lschriml A dystonia that is localized to a specific part of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm multifocal dystonia 2014-03-18T01:13:36Z A dystonia that involves two or more unrelated body parts. DOID:0050837 disease_ontology lschriml A dystonia that involves two or more unrelated body parts. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm segmental dystonia 2014-03-18T01:13:36Z A dystonia that affects two or more adjacent parts of the body. DOID:0050838 disease_ontology lschriml A dystonia that affects two or more adjacent parts of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm anismus 2014-03-18T01:30:33Z DOID:0050839 disease_ontology lschriml cervical dystonia 2014-03-18T01:30:33Z A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. DOID:0050840 disease_ontology lschriml spasmodic torticollis A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. url:http://en.wikipedia.org/wiki/Spasmodic_torticollis url:http://www.ncbi.nlm.nih.gov/books/NBK1155/ focal hand dystonia 2014-03-18T01:30:33Z A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. DOID:0050841 DOID:13467 ICD9CM:333.84 MSH:D020821 SNOMEDCT_US_2015_03_01:155009007 SNOMEDCT_US_2015_03_01:267690000 SNOMEDCT_US_2015_03_01:52008007 SNOMEDCT_US_2015_03_01:79994003 UMLS_CUI:C0154676 disease_ontology lschriml organic writer's cramp A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. url:http://en.wikipedia.org/wiki/Dystonia oculogyric crisis 2014-03-18T01:30:33Z A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. DOID:0050842 disease_ontology lschriml A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. url:http://en.wikipedia.org/wiki/Oculogyric_crisis oromandibular dystonia 2014-03-18T01:30:33Z A focal dystonia that is characterized by distortions of the mouth and tongue. DOID:0050843 disease_ontology lschriml A focal dystonia that is characterized by distortions of the mouth and tongue. url:http://en.wikipedia.org/wiki/Oromandibular_dystonia spasmodic dystonia 2014-03-18T01:30:33Z A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. DOID:0050844 disease_ontology laryngeal dystonia lschriml A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx cranio-facial dystonia 2014-03-18T01:33:33Z A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. DOID:0050845 disease_ontology lschriml A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm hemidystonia 2014-03-18T01:39:30Z A multifocal dystonia that involves the arm and leg on the same side of the body. DOID:0050846 disease_ontology lschriml A multifocal dystonia that involves the arm and leg on the same side of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm sleep apnea 2014-03-20T03:57:22Z A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. DOID:0050847 disease_ontology lschriml A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ obstructive sleep apnea 2014-03-20T03:57:22Z A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. DOID:0050848 ICD10CM:G47.3 ICD10CM:G47.30 ICD9CM:780.57 MSH:D012891 NCI:C26884 OMIM:107650 SNOMEDCT_US_2015_03_01:155614007 SNOMEDCT_US_2015_03_01:194441007 SNOMEDCT_US_2015_03_01:196166002 SNOMEDCT_US_2015_03_01:206750008 SNOMEDCT_US_2015_03_01:230493001 SNOMEDCT_US_2015_03_01:313246000 SNOMEDCT_US_2015_03_01:73430006 UMLS_CUI:C0020529 UMLS_CUI:C0037315 UMLS_CUI:C0338495 Xref MGI. disease_ontology lschriml obstructive sleep apnea syndrome A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 periampullary adenoma 2014-04-15T03:26:13Z DOID:0050849 disease_ontology lschriml diabetic encephalopathy 2014-04-15T03:33:49Z DOID:0050850 disease_ontology lschriml glomerulosclerosis 2014-04-15T03:40:31Z A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. DOID:0050851 disease_ontology lschriml A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. url:http://en.wikipedia.org/wiki/Glomerulosclerosis limb ischemia 2014-04-15T03:46:27Z DOID:0050852 disease_ontology lschriml chronic venous insufficiency 2014-04-15T03:50:26Z DOID:0050853 disease_ontology lschriml Muckle-Wells syndrome 2014-04-15T03:53:41Z DOID:0050854 disease_ontology lschriml renal fibrosis 2014-04-15T03:56:58Z DOID:0050855 disease_ontology lschriml oppositional defiant disorder 2014-04-15T04:03:08Z DOID:0050856 disease_ontology lschriml Perrault syndrome 2014-04-24T01:56:35Z An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. DOID:0050857 OMIM:233400 OMIM:614129 OMIM:614926 OMIM:615300 Orphanet:ORPHA2855 disease_ontology lschriml An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. url:http://ghr.nlm.nih.gov/gene/LARS2 url:http://www.ncbi.nlm.nih.gov/pubmed/23541340 Marshall-Smith syndrome 2014-04-24T02:06:30Z A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. DOID:0050858 OMIM:602535 Orphanet:ORPHA561 disease_ontology lschriml A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome url:http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1 hemorrhagic cystitis 2014-04-29T01:31:08Z DOID:0050859 disease_ontology lschriml colorectal adenoma 2014-05-05T03:14:49Z DOID:0050860 disease_ontology lschriml colorectal adenocarcinoma 2014-05-05T03:16:55Z A colorectal cancer that derives_from epithelial cells of glandular origin. DOID:0050861 disease_ontology lschriml A colorectal cancer that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma pyometritis 2014-05-05T03:25:57Z DOID:0050862 disease_ontology lschriml arteritic anterior ischemic optic neuropathy 2014-05-09T02:38:13Z DOID:0050863 disease_ontology lschriml non-arteritic anterior ischemic optic neuropathy 2014-05-09T02:38:13Z DOID:0050864 disease_ontology lschriml nonarteritic anterior ischemic optic neuropathy tongue squamous cell carcinoma 2014-05-12T02:38:44Z A tongue cancer that is located_in the squamous cells of the tongue. DOID:0050865 ICD9CM:141.9 MSH:D002294 NCI:C2929 SNOMEDCT_US_2015_03_01:154605007 SNOMEDCT_US_2015_03_01:189566008 SNOMEDCT_US_2015_03_01:28899001 SNOMEDCT_US_2015_03_01:402815007 UMLS_CUI:C0007137 disease_ontology lschriml squamous-cell carcinoma ICD10CM:C02.9 A tongue cancer that is located_in the squamous cells of the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma oral squamous cell carcinoma 2014-05-12T02:45:04Z An oral cavity cancer that has_material_basis_in squamous cells. DOID:0050866 disease_ontology lschriml mouth squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Jensen syndrome 2014-06-03T01:18:20Z A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. DOID:0050867 OMIM:311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA Orphanet:ORPHA3213 disease_ontology lschriml A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. url:http://omim.org/entry/311150 url:http://www.ncbi.nlm.nih.gov/pubmed/3425626 url:http://www.ncbi.nlm.nih.gov/pubmed/7195649 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple hepatocellular adenoma 2014-06-25T05:07:35Z DOID:0050868 disease_ontology lschriml villous adenoma 2014-06-25T05:08:30Z DOID:0050869 disease_ontology lschriml in situ pulmonary adenocarcinoma 2014-06-25T05:10:52Z A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. DOID:0050870 bronchioalveolar carcinoma disease_ontology lschriml A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma fibroma 2014-06-25T05:14:03Z DOID:0050871 disease_ontology lschriml large cell neuroendocrine carcinoma 2014-06-25T05:17:11Z DOID:0050872 disease_ontology lschriml follicular lymphoma 2014-06-25T05:24:10Z A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). DOID:0050873 disease_ontology lschriml A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). url:http://en.wikipedia.org/wiki/Follicular_lymphoma url:http://www.cancer.gov/dictionary?CdrID=428287 small cell neuroendocrine carcinoma 2014-06-25T05:31:24Z DOID:0050875 disease_ontology lschriml Caroli disease 2014-07-09T01:28:09Z A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. DOID:0050876 MSH:D016767 NCI:C84619 SNOMEDCT_US_2015_03_01:111331000 UMLS_CUI:C0162510 disease_ontology lschriml A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Caroli_disease url:http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract pancreatic agenesis 2014-07-09T03:35:41Z A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. DOID:0050877 OMIM:260370 disease_ontology lschriml partial pancreatic agenesis A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. url:http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 CLONE OF congenital afibrinogenemia 2014-07-29T01:17:13Z DOID:0050878 Factor I deficiency Fibrinogen deficiency OMIM mapping confirmed by DO. [SN]. disease_ontology lschriml true Factor I deficiency NCI2004_11_17:C26692 Fibrinogen deficiency SNOMEDCT_2005_07_31:29718007 fragile X-associated tremor/ataxia syndrome 2014-08-04T01:52:12Z A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. DOID:0050879 FXTAS syndrome OMIM:300623 disease_ontology lschriml A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome url:http://omim.org/entry/300623 url:http://www.ncbi.nlm.nih.gov/pubmed/18195136 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 Koolen de Vries syndrome 17q21.31 microdeletion syndrome 2014-08-06T12:57:12Z A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. DOID:0050880 KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome OMIM:610443 ORDO:96169 disease_ontology lschriml A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome url:http://omim.org/entry/610443 url:http://www.17q21.com/en/ url:http://www.ncbi.nlm.nih.gov/books/NBK24676/ url:http://www.ncbi.nlm.nih.gov/pubmed/22544363 url:http://www.ncbi.nlm.nih.gov/pubmed/22544367 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2014-08-06T02:30:16Z A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). DOID:0050881 IBMPFD OMIM:167320 OMIM:615422 OMIM:615424 disease_ontology inclusion body myopathy with Paget's disease of bone and frontotemporal dementia lschriml A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). url:http://omim.org/entry/167320 url:http://www.ncbi.nlm.nih.gov/pubmed/19380227 url:http://www.ncbi.nlm.nih.gov/pubmed/21892620 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21304887 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple spinocerebellar ataxia type 5 2014-08-06T03:51:03Z An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene. DOID:0050882 OMIM:600224 disease_ontology lschriml An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20368622 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 infantile cerebellar-retinal degeneration 2014-08-06T04:09:42Z A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. DOID:0050883 OMIM:614559 disease_ontology lschriml A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. url:http://omim.org/entry/614559 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22405087 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23438437 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 url:http://www.uniprot.org/diseases/DI-03409 triosephosphate isomerase deficiency 2014-08-07T11:44:31Z A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. DOID:0050884 OMIM:190450 OMIM:615512 Triose phosphate-isomerase deficiency disease_ontology lschriml A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency url:http://omim.org/entry/615512 url:http://www.ncbi.nlm.nih.gov/pubmed/16980388 url:http://www.ncbi.nlm.nih.gov/pubmed/17424909 url:http://www.ncbi.nlm.nih.gov/pubmed/23318931 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport IMAGe syndrome 2014-08-07T12:04:30Z A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. DOID:0050885 OMIM:614732 disease_ontology intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities lschriml A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. url:http://omim.org/entry/614732 url:http://www.ncbi.nlm.nih.gov/pubmed/14760276 url:http://www.ncbi.nlm.nih.gov/pubmed/22634751 url:http://www.ncbi.nlm.nih.gov/pubmed/23719190 url:http://www.ncbi.nlm.nih.gov/pubmed/24065356 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 Troyer syndrome 2014-08-07T12:18:56Z A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. DOID:0050886 OMIM:275900 disease_ontology lschriml spastic paraplegia 20 (Troyer syndrome) spastic paraplegia type 20 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. url:http://en.wikipedia.org/wiki/SPG20 url:http://ghr.nlm.nih.gov/condition/troyer-syndrome url:http://ghr.nlm.nih.gov/gene/SPG20 url:http://omim.org/entry/275900 url:http://www.ncbi.nlm.nih.gov/pubmed/20301556 url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple Townes-Brocks syndrome 2014-08-11T03:58:35Z An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. DOID:0050887 OMIM:107480 disease_ontology lschriml An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12925729 url:http://www.omim.org/entry/107480 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple syndromic intellectual disability 2014-08-14T10:55:32Z An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. DOID:0050888 OMIM:300486 OMIM:300860 OMIM:309583 disease_ontology lschriml An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability non-syndromic intellectual disability 2014-08-14T10:57:36Z An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. DOID:0050889 OMIM:613192 OMIM:614202 disease_ontology lschriml An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ synucleinopathy 2014-08-14T03:29:17Z A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. DOID:0050890 Synucleinopathies alpha Synucleinopathies disease_ontology lschriml A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. url:http://en.wikipedia.org/wiki/Synucleinopathies adrenal cortical adenoma 2014-09-04T01:54:59Z An adrenal adenoma that is a benign tumor of the adrenal cortex. DOID:0050891 adrenocortical adenoma disease_ontology lschriml An adrenal adenoma that is a benign tumor of the adrenal cortex. url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma adrenal gland pheochromocytoma 2014-09-11T01:01:57Z An adrenal medulla cancer that is characterized by overproduction of adrenaline. DOID:0050892 disease_ontology lschriml An adrenal medulla cancer that is characterized by overproduction of adrenaline. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma url:http://en.wikipedia.org/wiki/Pheochromocytoma url:http://www.cancer.gov/cancertopics/types/pheochromocytoma gallbladder adenoma 2014-09-11T01:53:07Z A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. DOID:0050893 disease_ontology lschriml A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. url:http://en.wikipedia.org/wiki/Adenoma ameloblastoma 2014-09-11T02:44:50Z A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. DOID:0050894 disease_ontology lschriml A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. url:http://en.wikipedia.org/wiki/Ameloblastoma bone ameloblastoma 2014-09-11T02:46:51Z A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. DOID:0050895 disease_ontology lschriml A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. url:http://en.wikipedia.org/wiki/Ameloblastoma bone squamous cell carcinoma 2014-09-11T02:50:46Z A bone carcinoma that derives_from squamous epithelial cells. DOID:0050896 disease_ontology lschriml A bone carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma bone chondrosarcoma 2014-09-11T02:55:07Z A chondrosarcoma that is located_in bone. DOID:0050897 disease_ontology lschriml A chondrosarcoma that is located_in bone. url:http://en.wikipedia.org/wiki/Chondrosarcoma phalanx chondroma 2014-09-11T03:42:42Z A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. DOID:0050898 disease_ontology lschriml A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. url:http://en.wikipedia.org/wiki/Chondroma brain stem medulloblastoma 2014-10-06T14:23:29Z A brain stem cancer that begins in the lower part of the brain on the floor of the skull. DOID:0050899 disease_ontology lschriml A brain stem cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma sacrum chordoma 2014-10-06T14:25:16Z A spinal chordoma that is located_in the sacrum. DOID:0050900 disease_ontology lschriml A spinal chordoma that is located_in the sacrum. url:http://en.wikipedia.org/wiki/Sacrum url:http://www.cancer.gov/dictionary?CdrID=45297 corpus callosum oligodendroglioma 2014-10-06T14:26:18Z A brain oligodendroglioma located_in the corpus callosum. DOID:0050901 disease_ontology lschriml A brain oligodendroglioma located_in the corpus callosum. url:http://en.wikipedia.org/wiki/Corpus_callosum url:http://en.wikipedia.org/wiki/Oligodendroglioma url:http://www.cancer.gov/dictionary?CdrID=46257 medulloblastoma 2014-10-06T14:36:37Z An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. CNS PNET CPNET DOID:0050902 DOID:0060105 DOID:168 DOID:3858 DOID:4981 MSH:D008527 MSH:D018242 NCI:C27294 NCI:C3222 NCI:C5398 OMIM mapping confirmed by DO. [SN]. OMIM:155255 SNOMEDCT_US_2015_03_01:189921005 SNOMEDCT_US_2015_03_01:189925001 SNOMEDCT_US_2015_03_01:39781001 SNOMEDCT_US_2015_03_01:443333004 SNOMEDCT_US_2015_03_01:699028006 SNOMEDCT_US_2015_03_01:83217000 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 brain medulloblastoma disease_ontology infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor lschriml CPNET SNOMEDCT_2005_07_31:39781001 CNS PNET NCI2004_11_17:C5398 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. url:http://en.wikipedia.org/wiki/Medulloblastoma url:http://www.cancer.gov/dictionary?CdrID=45780 parietal lobe ependymoma 2014-10-08T16:00:54Z A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. DOID:0050903 disease_ontology lschriml A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. url:http://www.cancer.gov/dictionary?CdrID=46432 salivary gland carcinoma 2014-10-08T16:52:58Z A salivary gland cancer that has_material_basis_in epithelial cells. DOID:0050904 disease_ontology lschriml A salivary gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm url:http://www.cancer.gov/dictionary?CdrID=45963 inflammatory myofibroblastic tumor 2014-10-09T14:18:08Z A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. DOID:0050905 disease_ontology lschriml A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23091756 conjunctival nevus 2014-10-13T11:47:25Z A sensory organ benign neoplasm that is located in the eye conjunctiva. DOID:0050906 disease_ontology lschriml A sensory organ benign neoplasm that is located in the eye conjunctiva. url:http://en.wikipedia.org/wiki/Conjunctiva url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors mixed extragonadal germ cell cancer 2014-10-13T12:37:37Z A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. DOID:0050907 disease_ontology lschriml A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed url:http://www.cancer.gov/dictionary?CdrID=444993 myelodysplastic syndrome 2014-10-13T12:51:33Z A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. DOID:0050908 ICD10CM:D46.9 ICD9:238.7 ICD9CM:238.75 MSH:D009190 NCI:C3247 SNOMEDCT_US_2015_03_01:109995007 SNOMEDCT_US_2015_03_01:109999001 SNOMEDCT_US_2015_03_01:128623006 SNOMEDCT_US_2015_03_01:188736006 SNOMEDCT_US_2015_03_01:189508006 SNOMEDCT_US_2015_03_01:189515003 SNOMEDCT_US_2015_03_01:190229005 SNOMEDCT_US_2015_03_01:25707000 SNOMEDCT_US_2015_03_01:393565000 SNOMEDCT_US_2015_03_01:4227006 UMLS_CUI:C0026986 UMLS_CUI:C2713368 disease_ontology lschriml A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome url:http://www.cancer.gov/dictionary?CdrID=45266 MALT lymphoma 2014-10-13T14:17:40Z A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. DOID:0050909 disease_ontology lschriml mucosa-associated lymphoid tissue lymphoma A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. url:http://www.cancer.gov/dictionary?CdrID=45774 cecum adenoma 2014-10-13T14:41:01Z A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. DOID:0050910 caecum adenoma disease_ontology lschriml A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma appendix carcinoid tumor 2014-10-13T14:45:41Z An appendix cancer that has_material_basis_in neurodendocrine cells. DOID:0050911 appendix carcinoid endocrine tumour disease_ontology lschriml An appendix cancer that has_material_basis_in neurodendocrine cells. url:http://en.wikipedia.org/wiki/Carcinoid url:http://www.cancer.gov/dictionary?CdrID=44233 colon adenoma 2014-10-13T14:56:27Z A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. DOID:0050912 disease_ontology lschriml A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Colorectal_adenoma url:http://www.cancer.gov/dictionary?CdrID=46217 large intestine adenocarcinoma 2014-10-13T15:00:10Z A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. DOID:0050913 disease_ontology lschriml A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. url:http://www.cancer.gov/dictionary?CdrID=46216 large intestine adenoma 2014-10-13T15:07:10Z An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. DOID:0050914 disease_ontology lschriml An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. url:http://en.wikipedia.org/wiki/Adenoma rectum adenoma 2014-10-13T15:09:51Z An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. DOID:0050915 disease_ontology lschriml An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. url:http://en.wikipedia.org/wiki/Adenoma bronchus mucoepidermoid carcinoma 2014-10-13T15:13:54Z A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. DOID:0050916 disease_ontology lschriml A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma url:http://oralcancerfoundation.org/facts/rare/mc/ lung combined type small cell adenocarcinoma 2014-10-13T15:36:11Z A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. DOID:0050917 disease_ontology lschriml A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45327 url:http://www.cancer.gov/dictionary?CdrID=46216 vaginal carcinoma 2014-10-21T11:37:19Z A vaginal cancer that has_material_basis_in epithelial cells. DOID:0050918 disease_ontology lschriml A vaginal cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma trachea mucoepidermoid carcinoma 2014-10-21T11:42:42Z A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. DOID:0050919 disease_ontology lschriml A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma tonsil squamous cell carcinoma 2014-10-21T11:48:00Z A tonsil cancer that has_material_basis_in squamous cells. DOID:0050920 disease_ontology lschriml A tonsil cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma pharynx squamous cell carcinoma 2014-10-21T11:54:00Z A pharynx cancer that has_material_basis_in squamous cells. DOID:0050921 disease_ontology lschriml A pharynx cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma gastrointestinal carcinoma 2014-10-21T11:56:36Z A gastrointestinal system cancer that has_material_basis_in epithelial cells. DOID:0050922 disease_ontology lschriml A gastrointestinal system cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma spindle epithelial tumor with thymus-like differentiation tumor 2014-10-21T12:26:31Z A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. DOID:0050923 SETTLE tumor disease_ontology lschriml A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. url:http://www.ncbi.nlm.nih.gov/pubmed/19417583 url:http://www.ncbi.nlm.nih.gov/pubmed/2050369 url:http://www.pathologyoutlines.com/topic/thyroidsettle.html url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext striated muscle rhabdoid tumor 2014-10-21T12:38:23Z A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. DOID:0050924 disease_ontology lschriml A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour url:http://www.cancer.gov/dictionary?CdrID=46139 small intestine carcinoid neuroendocrine tumor 2014-10-21T12:58:08Z A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. DOID:0050925 disease_ontology lschriml A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. url:http://en.wikipedia.org/wiki/Carcinoid jejunal adenocarcinoma 2014-10-21T13:00:15Z A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. DOID:0050926 disease_ontology lschriml A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma duodenum adenoma 2014-10-21T13:02:15Z A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. DOID:0050927 disease_ontology lschriml A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma ovarian melanoma 2014-10-21T13:27:44Z An ovarian cancer that has_material_basis_in melanoctyes. DOID:0050928 disease_ontology lschriml An ovarian cancer that has_material_basis_in melanoctyes. url:http://en.wikipedia.org/wiki/Melanoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ url:http://www.ncbi.nlm.nih.gov/pubmed/15166669 mucosal melanoma 2014-10-21T13:51:49Z A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. DOID:0050929 disease_ontology lschriml A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic sublingual gland adenoid cystic carcinoma 2014-10-21T14:04:40Z A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. DOID:0050930 disease_ontology lschriml A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma parotid gland adenoid cystic carcinoma 2014-10-21T14:09:29Z A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. DOID:0050931 disease_ontology lschriml A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:http://en.wikipedia.org/wiki/Parotid_gland lung mucoepidermoid carcinoma 2014-10-21T15:13:36Z A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. DOID:0050932 disease_ontology lschriml A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma ovarian serous carcinoma 2014-10-21T15:51:41Z An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. DOID:0050933 disease_ontology lschriml An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. url:http://en.wikipedia.org/wiki/Serous_carcinoma ovarian clear cell carcinoma 2014-10-21T15:54:52Z An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. DOID:0050934 clear-cell ovarian carcinoma disease_ontology lschriml An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma cervical neuroblastoma 2014-10-21T16:02:01Z An extracranial neuroblastoma that has_material_basis_in immature nerve cells. DOID:0050935 disease_ontology lschriml An extracranial neuroblastoma that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 url:http://www.ncbi.nlm.nih.gov/pubmed/15390353 url:http://www.ncbi.nlm.nih.gov/pubmed/9262064 extra-adrenal pheochromocytoma 2014-10-22T10:25:45Z An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. DOID:0050936 disease_ontology lschriml An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. url:http://en.wikipedia.org/wiki/Pheochromocytoma retroperitoneal neuroblastoma 2014-10-22T11:18:01Z A retroperitoneal cancer that has_material_basis_in immature nerve cells. DOID:0050937 disease_ontology lschriml A retroperitoneal cancer that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://en.wiktionary.org/wiki/retroperitoneal breast lobular carcinoma 2014-10-22T13:05:34Z A breast carcinoma that derives_from breast lobules (milk glands). DOID:0050938 disease_ontology lschriml A breast carcinoma that derives_from breast lobules (milk glands). url:http://cancergenome.nih.gov/cancersselected/breastlobular url:http://www.cancer.gov/dictionary?CdrID=426416 uterine corpus endometrial carcinoma 2014-10-22T14:26:22Z A uterine corpus cancer that is derived_from the inner lining of the uterus. DOID:0050939 disease_ontology lschriml A uterine corpus cancer that is derived_from the inner lining of the uterus. url:http://cancergenome.nih.gov/cancersselected/endometrial endocervical adenocarcinoma 2014-10-24T15:51:48Z An endocervical carcinoma that derives_from epithelial cells of glandular origin. DOID:0050940 disease_ontology lschriml An endocervical carcinoma that derives_from epithelial cells of glandular origin. url:http://www.ncbi.nlm.nih.gov/pubmed/12207781 spastic ataxia 2 2015-09-18T14:13:49Z DOID:0050941 OMIM:611302 disease_ontology lschriml spastic ataxia 3 2015-09-18T14:13:49Z DOID:0050942 OMIM:611390 disease_ontology lschriml spastic ataxia 4 2015-09-18T14:13:49Z DOID:0050943 OMIM:613672 disease_ontology lschriml spastic ataxia 5 2015-09-18T14:13:49Z DOID:0050944 OMIM:614487 disease_ontology lschriml spastic ataxia 7 2015-09-18T14:13:49Z DOID:0050945 OMIM:108650 disease_ontology lschriml Charlevoix-Saguenay spastic ataxia 2015-09-18T14:13:49Z DOID:0050946 OMIM:270550 disease_ontology lschriml hereditary hypophosphatemic rickets with hypercalciuria 2015-10-01T12:10:26Z A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. DOID:0050947 OMIM:241530 disease_ontology lschriml A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. url:http://www.omim.org/entry/241530?search=241530&highlight=241530 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple autosomal dominant hypophosphatemic rickets 2015-10-01T12:10:30Z A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. DOID:0050948 OMIM:193100 disease_ontology lschriml A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/pubmed/26365554 url:http://www.omim.org/entry/193100?search=193100&highlight=193100 autosomal recessive hypophosphatemic rickets 2015-10-01T12:10:33Z A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. DOID:0050949 OMIM:241520 OMIM:613312 disease_ontology lschriml A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. url:http://www.omim.org/entry/241520?search=241520&highlight=241520 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple autosomal recessive cerebellar ataxia 2015-10-05T14:21:08Z A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. DOID:0050950 disease_ontology lschriml A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ hereditary ataxia 2015-10-05T14:38:17Z A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. DOID:0050951 disease_ontology lschriml A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. url:http://www.ncbi.nlm.nih.gov/books/NBK1138 spastic ataxia 2015-10-05T14:39:34Z DOID:0050952 disease_ontology lschriml X-linked hereditary ataxia 2015-10-05T15:41:09Z DOID:0050953 disease_ontology lschriml spinocerebellar ataxia type 1 2015-10-05T16:07:27Z DOID:0050954 OMIM:164400 disease_ontology lschriml spinocerebellar ataxia type 2 2015-10-05T16:07:27Z DOID:0050955 OMIM:183090 disease_ontology lschriml spinocerebellar ataxia type 6 2015-10-05T16:07:27Z DOID:0050956 OMIM:183086 disease_ontology lschriml spinocerebellar ataxia type 4 2015-10-05T16:07:27Z DOID:0050957 disease_ontology lschriml spinocerebellar ataxia type 7 2015-10-05T16:07:27Z DOID:0050958 OMIM:164500 disease_ontology lschriml spinocerebellar ataxia type 8 2015-10-05T16:12:39Z DOID:0050959 OMIM:608768 disease_ontology lschriml spinocerebellar ataxia type 10 2015-10-05T16:12:39Z DOID:0050960 OMIM:603516 disease_ontology lschriml spinocerebellar ataxia type 11 2015-10-05T16:12:39Z DOID:0050961 OMIM:604432 disease_ontology lschriml spinocerebellar ataxia type 12 2015-10-05T16:12:39Z DOID:0050962 OMIM:604326 disease_ontology lschriml spinocerebellar ataxia type 13 2015-10-05T16:12:39Z DOID:0050963 OMIM:605259 disease_ontology lschriml spinocerebellar ataxia type 14 2015-10-05T16:12:39Z DOID:0050964 OMIM:605361 disease_ontology lschriml spinocerebellar ataxia type 15 2015-10-05T16:12:39Z DOID:0050965 OMIM:606658 disease_ontology lschriml spinocerebellar ataxia type 16 2015-10-05T16:12:39Z DOID:0050966 disease_ontology lschriml spinocerebellar ataxia type 17 2015-10-05T16:12:39Z DOID:0050967 OMIM:607136 disease_ontology lschriml autosomal dominant cerebellar ataxia, deafness and narcolepsy 2015-10-05T16:12:39Z DOID:0050968 OMIM:604121 disease_ontology lschriml spinocerebellar ataxia type 18 2015-10-06T16:11:07Z DOID:0050969 OMIM:607458 disease_ontology lschriml spinocerebellar ataxia type 19/22 2015-10-06T16:11:07Z DOID:0050970 OMIM:607346 disease_ontology lschriml spinocerebellar ataxia type 20 2015-10-06T16:11:07Z DOID:0050971 OMIM:608687 disease_ontology lschriml spinocerebellar ataxia type 21 2015-10-06T16:11:07Z DOID:0050972 OMIM:607454 disease_ontology lschriml spinocerebellar ataxia type 23 2015-10-06T16:11:07Z DOID:0050973 OMIM:610245 disease_ontology lschriml spinocerebellar ataxia type 25 2015-10-06T16:11:07Z DOID:0050974 OMIM:608703 disease_ontology lschriml spinocerebellar ataxia type 26 2015-10-06T16:11:07Z DOID:0050975 OMIM:609306 disease_ontology lschriml spinocerebellar ataxia type 27 2015-10-06T16:11:07Z DOID:0050976 OMIM:609307 disease_ontology lschriml spinocerebellar ataxia type 28 2015-10-06T16:11:07Z DOID:0050977 OMIM:610246 disease_ontology lschriml spinocerebellar ataxia type 29 2015-10-06T16:11:07Z DOID:0050978 OMIM:117360 disease_ontology lschriml spinocerebellar ataxia type 30 2015-10-06T16:11:07Z DOID:0050979 OMIM:613371 disease_ontology lschriml spinocerebellar ataxia type 31 2015-10-06T16:11:07Z DOID:0050980 OMIM:117210 disease_ontology lschriml spinocerebellar ataxia type 34 2015-10-06T16:11:07Z DOID:0050981 OMIM:133190 disease_ontology lschriml spinocerebellar ataxia type 35 2015-10-06T16:11:07Z DOID:0050982 OMIM:613908 disease_ontology lschriml spinocerebellar ataxia type 36 2015-10-06T16:11:07Z DOID:0050983 OMIM:614153 disease_ontology lschriml spinocerebellar ataxia type 37 2015-10-06T16:11:07Z DOID:0050984 OMIM:615945 disease_ontology lschriml spinocerebellar ataxia type 38 2015-10-06T16:11:07Z DOID:0050985 OMIM:615957 disease_ontology lschriml spinocerebellar ataxia type 40 2015-10-06T16:11:07Z DOID:0050986 OMIM:616053 disease_ontology lschriml hypomyelinating leukoencephalopathy 2015-10-06T16:24:06Z DOID:0050987 OMIM:612438 disease_ontology lschriml GRID2-related spinocerebellar ataxia 2015-10-06T16:24:06Z DOID:0050988 disease_ontology lschriml episodic ataxia type 1 2015-10-06T16:26:26Z DOID:0050989 OMIM:160120 disease_ontology lschriml episodic ataxia type 2 2015-10-06T16:26:26Z DOID:0050990 OMIM:108500 disease_ontology lschriml episodic ataxia type 3 2015-10-06T16:26:26Z DOID:0050991 OMM:606554 disease_ontology lschriml episodic ataxia type 4 2015-10-06T16:26:26Z DOID:0050992 OMIM:606552 disease_ontology lschriml episodic ataxia type 5 2015-10-06T16:26:26Z DOID:0050993 OMIM:613855 disease_ontology lschriml episodic ataxia type 6 2015-10-06T16:26:26Z DOID:0050994 OMIM:612656 disease_ontology lschriml episodic ataxia type 7 2015-10-06T16:26:26Z DOID:0050995 OMIM:611907 disease_ontology lschriml episodic ataxia type 8 2015-10-07T13:38:56Z DOID:0050996 OMIM:616055 disease_ontology lschriml cerebellar ataxia, mental retardation and dysequlibrium syndrome 2015-10-07T13:48:09Z An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. CAMRQ DOID:0050997 OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268 disease_ontology lschriml An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.omim.org/entry/224050?search=224050&highlight=224050 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple nonprogressive cerebellar atxia with mental retardation 2015-10-07T14:08:24Z DOID:0050998 OMIM:614756 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 10 2015-10-07T14:43:23Z DOID:0050999 OMIM:613728 SCAR10 disease_ontology lschriml infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. DOID:0060000 disease_ontology An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. url:http://en.wikipedia.org/wiki/Infective_endocarditis url:http://wn.wikipedia.org/wiki/Endocarditis withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. DOID:0060001 disease_ontology A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. url:http://en.wikipedia.org/wiki/Withdrawal C1 inhibitor deficiency A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. DOID:0060002 Quincke edema disease_ontology A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. ls:IEDB url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease autoimmune disease of central nervous system An autoimmune disease of the central nervous system. DOID:0060004 disease_ontology An autoimmune disease of the central nervous system. ls:IEDB autoimmune disease of endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. DOID:0060005 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. ls:IEDB artemis deficiency A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. DOID:0060006 disease_ontology A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. url:http://en.wikipedia.org/wiki/DCLRE1C CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells. DOID:0060007 disease_ontology A severe combined immunodeficiency that affects the development and function of T cells. url:http://bioinf.uta.fi/CD247base/ janus kinase-3 deficiency DOID:0060008 disease_ontology MHC class I deficiency BLS, TYPE I BLSI DOID:0060009 HLA CLASS I DEFICIENCY OMIM mapping confirmed by DO. [SN]. OMIM:604571 bare lymphocyte syndrome type I disease_ontology Omenn syndrome A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. DOID:0060010 disease_ontology A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. DOID:0060011 disease_ontology A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://bioinf.uta.fi/RAG1base/ url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. DOID:0060012 disease_ontology A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://bioinf.uta.fi/RAG2base/ url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html gamma chain deficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. DOID:0060013 DOID:5811 MSH:D053632 NCI:C4682 OMIM mapping confirmed by DO. [LS]. OMIM:300400 SCID-X1 SNOMEDCT_US_2015_03_01:203592006 SNOMEDCT_US_2015_03_01:234569003 UMLS_CUI:C1279481 X-Linked Severe Combined Immunodeficiency XSCID disease_ontology thymic epithelial hypoplasia NCI2004_11_17:C4682 X-Linked Severe Combined Immunodeficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency CD45 deficiency A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. DOID:0060014 disease_ontology A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. url:http://bioinf.uta.fi/xml/idr/ff/FF6.xml interleukin-7 receptor alpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. DOID:0060015 IL-7R IL7R disease_ontology A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. url:http://bioinf.uta.fi/IL7Rbase/ CD3delta deficiency A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. CD3D DOID:0060016 disease_ontology A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. url:http://bioinf.uta.fi/CD3Dbase/ CD3epsilon deficiency A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. DOID:0060017 disease_ontology A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. url:http://bioinf.uta.fi/CD3Ebase/ CD3gamma deficiency A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. DOID:0060018 disease_ontology A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. url:http://bioinf.uta.fi/CD3Gbase/ coronin-1A deficiency A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. DOID:0060019 disease_ontology A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. DOID:0060020 DOID:1226 De Vaal disease MSH:C538361 NCI:C27070 OMIM mapping confirmed by DO. [SN]. OMIM:267500 SNOMEDCT_US_2015_03_01:111584000 UMLS_CUI:C0272167 aleukocytosis disease_ontology A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/gene/204? DNA ligase IV deficiency A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. DOID:0060021 LIG4 Syndrome OMIM mapping confirmed by DO. [SN]. OMIM:606593 disease_ontology A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. url:http://omim.org/entry/606593 url:http://www.ncbi.nlm.nih.gov/gene/3981 CD40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. DOID:0060022 HIGMX-1 X-linked hyper-IgM syndrome disease_ontology A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. url:http://bioinf.uta.fi/CD40Lbase/ url:http://content.karger.com/ProdukteDB/produkte.asp?Doi=236923 CD40 deficiency A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. DOID:0060023 disease_ontology type 3 hyper-IgM immunodeficiency A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. url:http://bioinf.uta.fi/CD40base/ lambda 5 deficiency A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. DOID:0060024 disease_ontology A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. url:http://bioinf.uta.fi/IGLL1base/ url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 url:http://www.ncbi.nlm.nih.gov/gene/3543? immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. DOID:0060025 IgA deficiency MSH:D017098 OMIM:137100 OMIM:269650 OMIM:609529 ORDO:69127 SNOMEDCT_US_2015_03_01:29260007 UMLS_CUI:C0162538 Xref MGI. disease_ontology gamma-A-globulin deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. url:http://bioinf.uta.fi/CD79Abase/ url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 url:http://www.ncbi.nlm.nih.gov/gene/973? immunoglobulin beta deficiency DOID:0060026 IgB deficiency disease_ontology B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. B-cell linker protein deficiency BLNK deficiency DOID:0060027 disease_ontology A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. url:http://bioinf.uta.fi/BLNKbase/ url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515 url:http://www.ncbi.nlm.nih.gov/gene/2 Good syndrome An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. DOID:0060028 disease_ontology thymoma with hypogammaglobulinemia An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. url:http://en.wikipedia.org/wiki/Good_syndrome url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750 autoimmune disease of exocrine system An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. DOID:0060029 disease_ontology An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. ls:IEDB autoimmune disease of eyes, ear, nose and throat A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. DOID:0060030 disease_ontology A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. ls:IEDB autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. DOID:0060031 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. ls:IEDB autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. DOID:0060032 disease_ontology An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. ls:IEDB autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. DOID:0060033 disease_ontology An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. ls:IEDB medical disorder A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. DOID:0060035 disease_ontology true A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Diseases#Disorder url:http://www.medilexicon.com/medicaldictionary.php?t=25959 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. DOID:0060036 disease_ontology A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. DOID:0060037 disease_ontology A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. url:http://en.wikipedia.org/wiki/Developmental_disorders specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. DOID:0060038 disease_ontology A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. url:http://en.wikipedia.org/wiki/Specific_developmental_disorder autoimmune disease of skin and connective tissue A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. DOID:0060039 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. ls:IEDB pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. DOID:0060040 DOID:1208 ICD9CM:299.80 UMLS_CUI:C0154451 disease_ontology pervasive development disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. url:http://www.ninds.nih.gov/disorders/pdd/pdd.htm autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. DOID:0060041 disease_ontology A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder url:www.neurodevnet.ca atypical autism An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. DOID:0060042 PDD NOS disease_ontology An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. url:http://counsellingresource.com/distress/autistic/autism-atypical.html url:http://www.wisegeek.com/what-is-atypical-autism.htm url:www.neurodevnet.ca sexual disorder A disease of mental health that involves the impairment in normal sexual functioning. DOID:0060043 disease_ontology A disease of mental health that involves the impairment in normal sexual functioning. url:http://allpsych.com/disorders/sexual/index.html paraphilia disorder DOID:0060044 disease_ontology Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. DOID:0060045 disease_ontology A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. url:http://en.wikipedia.org/wiki/Munchausen_by_proxy aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. DOID:0060046 disease_ontology A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. url:http://en.wikipedia.org/wiki/Aphasia writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. DOID:0060047 disease_ontology A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities nosophobia A specific phobia that involves an irrational fear of contracting a disease. DOID:0060048 disease_ontology A specific phobia that involves an irrational fear of contracting a disease. url:http://en.wikipedia.org/wiki/Nosophobia autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. DOID:0060049 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. ls:IEDB autoimmune disease of blood A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. DOID:0060050 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. ls:IEDB autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. DOID:0060051 disease_ontology A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. ls:IEDB neurological disorder A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. DOID:0060052 disease_ontology true A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. ls:IEDB peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system. DOID:0060053 disease_ontology A neuropathy that is located_in nerves of the peripheral nervous system. url:http://en.wikipedia.org/wiki/Sensory_neuropathy autonomic peripheral neuropathy DOID:0060054 disease_ontology popliteal pterygium syndrome 2015-02-04T14:16:39Z An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1. DOID:0060055 MSH:C562509 NT MGI. OMIM:119500 OMIM:263650 ORDO:1300 ORDO:294963 SNOMEDCT_US_2015_03_01:205820002 SNOMEDCT_US_2015_03_01:66783006 UMLS_CUI:C0265259 disease_ontology emitraka facio-genito-popliteal syndrome popliteal web syndrome An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1. ISBN:0-7216-2921-0 PMID:2352260 PMID:4384166 url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome hypersensitivity reaction disease An immune system disease that is caused by abnormal immune responses. DOID:0060056 disease_ontology An immune system disease that is caused by abnormal immune responses. url:http://en.wikipedia.org/wiki/Hypersensitivity url:http://physio.ucsf.edu/GEMS/courses/Immunology/materials/fa13_essential_immunology/090313_hypersensitivity_defranco.pdf url:http://www.ncbi.nlm.nih.gov/books/NBK27136/ gluten allergic reaction DOID:0060057 disease_ontology lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:0060058 DOID:1033 DOID:353 ICD10CM:C85.9 MSH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2015_03_01:115244002 SNOMEDCT_US_2015_03_01:118600007 SNOMEDCT_US_2015_03_01:134218000 SNOMEDCT_US_2015_03_01:188676008 SNOMEDCT_US_2015_03_01:188694002 SNOMEDCT_US_2015_03_01:188695001 SNOMEDCT_US_2015_03_01:188704004 SNOMEDCT_US_2015_03_01:189959002 SNOMEDCT_US_2015_03_01:189965002 SNOMEDCT_US_2015_03_01:21964009 SNOMEDCT_US_2015_03_01:269627002 SNOMEDCT_US_2015_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 disease_ontology lymphoid cancer A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. url:http://en.wikipedia.org/wiki/Lymphoma url:http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 url:http://www.nlm.nih.gov/medlineplus/lymphoma.html non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. DOID:0060060 OMIM mapping confirmed by DO. [LS]. OMIM:605027 disease_ontology A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45148 cutaneous T cell lymphoma A non-Hodgkin's lymphoma that is caused by a mutation of T cells. DOID:0060061 disease_ontology A non-Hodgkin's lymphoma that is caused by a mutation of T cells. url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma familial juvenile hyperuricemic nephropathy A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. DOID:0060062 OMIM:162000 OMIM:613092 OMIM:614227 ORDO:209886 ORDO:217330 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. url:http://www.ncbi.nlm.nih.gov/pubmed/21060763 X-linked sideroblastic anemia DOID:0060063 OMIM mapping confirmed by DO. [LS]. OMIM:300751 XLSA disease_ontology sideroblastic anemia with spinocerebellar ataxia ASAT DOID:0060064 OMIM mapping confirmed by DO. [LS]. OMIM:310310 disease_ontology pyridoxine-refractory autosomal recessive sideroblastic anemia DOID:0060065 OMIM mapping confirmed by DO. [LS]. OMIM:205950 disease_ontology pyridoxine-responsive sideroblastic anemia DOID:0060066 OMIM mapping confirmed by DO. [LS]. OMIM:206000 disease_ontology Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. DOID:0060067 OMIM mapping confirmed by DO. [LS]. OMIM:557000 Pearson Marrow-Pancreas Syndrome disease_ontology A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. url:http://en.wikipedia.org/wiki/Pearson_syndrome marantic endocarditis 2011-04-13T03:14:26Z An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. DOID:0060068 disease_ontology lschriml non-bacterial thrombotic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. url:http://en.wikipedia.org/wiki/Marantic_endocarditis Bacillus cereus pneumonia 2011-04-15T11:41:26Z DOID:0060069 disease_ontology lschriml true pre-malignant neoplasm 2011-05-11T12:18:41Z A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. DOID:0060071 disease_ontology lschriml A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. url:http://en.wikipedia.org/wiki/Neoplasm benign neoplasm 2011-05-11T12:18:41Z A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. DOID:0060072 disease_ontology lschriml A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. url:http://en.wikipedia.org/wiki/Benign_neoplasm url:http://www.nlm.nih.gov/medlineplus/benigntumors.html lymphatic system cancer 2011-05-11T01:05:14Z An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. DOID:0060073 disease_ontology lschriml An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. url:http://en.wikipedia.org/wiki/Lymphatic_system ductal carcinoma in situ 2011-06-08T12:19:28Z DOID:0060074 disease_ontology lschriml estrogen-receptor positive breast cancer 2011-06-08T12:23:02Z DOID:0060075 disease_ontology lschriml estrogen-receptor negative breast cancer 2011-06-08T12:23:02Z DOID:0060076 disease_ontology lschriml progesterone-receptor positive breast cancer 2011-06-08T12:23:02Z DOID:0060077 disease_ontology lschriml progesterone-receptor negative breast cancer 2011-06-08T12:23:02Z DOID:0060078 disease_ontology lschriml Her2-receptor positive breast cancer 2011-06-08T12:23:02Z DOID:0060079 disease_ontology lschriml Her2-receptor negative breast cancer 2011-06-08T12:23:02Z DOID:0060080 disease_ontology lschriml triple-receptor negative breast cancer 2011-06-08T12:23:02Z DOID:0060081 disease_ontology lschriml breast benign neoplasm 2011-06-08T01:02:29Z DOID:0060082 disease_ontology lschriml immune system cancer 2011-06-08T01:11:18Z An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. DOID:0060083 disease_ontology lschriml An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. url:http://en.wikipedia.org/wiki/Immune_system cell type benign neoplasm 2011-07-14T11:59:48Z A benign neoplasm that is classified by the type of cell or tissue from which it is derived. DOID:0060084 disease_ontology lschriml A benign neoplasm that is classified by the type of cell or tissue from which it is derived. url:http://en.wikipedia.org/wiki/Benign_tumor organ system benign neoplasm 2011-07-14T12:12:23Z A benign neoplasm that is classified by the organ system from which it is arising from. DOID:0060085 disease_ontology lschriml A benign neoplasm that is classified by the organ system from which it is arising from. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 female reproductive organ benign neoplasm 2011-07-14T12:20:52Z DOID:0060086 disease_ontology lschriml male reproductive organ benign neoplasm 2011-07-14T12:20:52Z DOID:0060087 disease_ontology lschriml vestibular gland benign neoplasm 2011-07-14T12:36:54Z DOID:0060088 disease_ontology lschriml endocrine organ benign neoplasm 2011-07-14T01:45:15Z An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. DOID:0060089 disease_ontology lschriml An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system central nervous system organ benign neoplasm 2011-07-14T01:45:15Z DOID:0060090 disease_ontology lschriml cardiovascular organ benign neoplasm 2011-07-14T01:45:15Z An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. DOID:0060091 disease_ontology lschriml An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system immune system organ benign neoplasm 2011-07-14T01:58:49Z An organ system benign neoplasm located_in the immune system organs. DOID:0060092 disease_ontology lschriml An organ system benign neoplasm located_in the immune system organs. url:http://en.wikipedia.org/wiki/Immune_system bone benign neoplasm 2011-07-15T01:34:59Z A connective tissue benign neoplasm that is located_in bone. DOID:0060094 disease_ontology lschriml A connective tissue benign neoplasm that is located_in bone. url:http://en.wikipedia.org/wiki/Bone_tumor uterine benign neoplasm 2011-07-15T01:42:11Z DOID:0060095 DOID:0060113 disease_ontology lschriml sensory organ benign neoplasm 2011-07-15T01:45:26Z A nervous system benign neoplasm that is located_in a sensory organ. DOID:0060096 disease_ontology lschriml A nervous system benign neoplasm that is located_in a sensory organ. url:http://en.wikipedia.org/wiki/Sensory_system thoracic benign neoplasm 2011-07-15T01:55:57Z An organ system benign neoplam that is located_in the thoracic cavity. DOID:0060097 disease_ontology lschriml An organ system benign neoplam that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity osteoblastoma 2011-07-15T02:14:40Z DOID:0060098 disease_ontology lschriml musculoskeletal system benign neoplasm 2011-07-15T02:28:52Z An organ system benign neoplasm that is located_in the muscular and skeletal organs. DOID:0060099 disease_ontology lschriml An organ system benign neoplasm that is located_in the muscular and skeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system musculoskeletal system cancer 2011-07-15T02:30:51Z An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. DOID:0060100 DOID:0060124 disease_ontology lschriml skeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders benign glioma 2011-07-19T01:27:04Z A cell type benign neoplasm that has_material_basis_in glial cells. DOID:0060101 disease_ontology lschriml A cell type benign neoplasm that has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 cartilage cancer 2011-07-20T01:40:49Z DOID:0060102 disease_ontology lschriml central nervous system primitive neuroectodermal neoplasm 2011-07-21T02:24:10Z DOID:0060103 disease_ontology lschriml cerebellar medulloblastoma 2011-07-21T02:28:01Z A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. DOID:0060104 disease_ontology lschriml A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma brain meningioma 2011-07-21T05:39:28Z DOID:0060106 disease_ontology lschriml brain glioma 2011-07-22T12:42:50Z A brain cancer that has_material_basis_in glial cells. DOID:0060108 disease_ontology lower grade glioma lschriml A brain cancer that has_material_basis_in glial cells. url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma url:http://www.cancer.gov/dictionary?CdrID=45700 vulvar benign neoplasm 2011-07-25T11:50:50Z DOID:0060109 disease_ontology lschriml cervical benign neoplasm 2011-07-25T11:50:50Z DOID:0060110 disease_ontology lschriml fallopian tube benign neoplasm 2011-07-25T11:50:50Z DOID:0060111 disease_ontology lschriml ovarian benign neoplasm 2011-07-25T11:50:50Z DOID:0060112 disease_ontology lschriml vaginal benign neoplasm 2011-07-25T11:50:50Z DOID:0060114 disease_ontology lschriml nervous system benign neoplasm 2011-07-25T12:47:43Z An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. DOID:0060115 disease_ontology lschriml An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system sensory system cancer 2011-07-25T01:51:56Z A nervous system cancer that is located_in the sensory system. DOID:0060116 disease_ontology lschriml A nervous system cancer that is located_in the sensory system. url:http://en.wikipedia.org/wiki/Sensory_system peritoneal benign neoplasm 2011-07-25T02:20:33Z An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. DOID:0060117 disease_ontology lschriml An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. url:http://en.wikipedia.org/wiki/Peritoneal thoracic disease 2011-07-25T02:23:47Z A disease of anatomical entity that is located_in the thoracic cavity. DOID:0060118 disease_ontology lschriml A disease of anatomical entity that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity pharynx cancer 2011-07-27T01:26:34Z A gastrointestinal system cancer that is located_in the pharynx. DOID:0060119 MSH:D010610 NCI:C3325 SNOMEDCT_US_2015_03_01:126685009 SNOMEDCT_US_2015_03_01:95001001 UMLS_CUI:C0031347 disease_ontology lschriml pharyngeal cancer pharyngeal neoplasm pharynx neoplasm A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx skeletal system benign neoplasm 2011-07-27T01:46:00Z DOID:0060120 disease_ontology lschriml true integumentary system benign neoplasm 2011-07-27T01:49:44Z An organ system benign neoplasm located_in the integumentary system organs. DOID:0060121 disease_ontology lschriml An organ system benign neoplasm located_in the integumentary system organs. url:http://en.wikipedia.org/wiki/Integumentary_system integumentary system cancer 2011-07-27T02:31:34Z An organ system cancer that is located_in the skin, hair and nails. DOID:0060122 disease_ontology lschriml An organ system cancer that is located_in the skin, hair and nails. url:http://en.wikipedia.org/wiki/Integumentary_system connective tissue benign neoplasm 2011-07-27T02:35:57Z A musculoskeletal system benign neoplasm that is located_in connective tissue. DOID:0060123 DOID:177 MSH:D012983 NCI:C3377 SNOMEDCT_US_2015_03_01:126600002 SNOMEDCT_US_2015_03_01:387837005 UMLS_CUI:C0037579 disease_ontology lschriml neoplasm of soft tissue (disorder) neoplasm of soft tissues (disorder) soft tissue benign neoplasm tumor of the soft tissue SNOMEDCT_2005_07_31:126600002 neoplasm of soft tissues (disorder) NCI2004_11_17:C3377 tumor of the soft tissue A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm SNOMEDCT_2005_07_31:387837005 neoplasm of soft tissue (disorder) heavy chain disease 2011-08-22T11:23:09Z A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. DOID:0060125 ICD10CM:C88.2 MSH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 SNOMEDCT_US_2015_03_01:109984001 SNOMEDCT_US_2015_03_01:123062004 SNOMEDCT_US_2015_03_01:190011009 SNOMEDCT_US_2015_03_01:190820001 SNOMEDCT_US_2015_03_01:5440009 SNOMEDCT_US_2015_03_01:61493004 SNOMEDCT_US_2015_03_01:6381009 SNOMEDCT_US_2015_03_01:68979007 UMLS_CUI:C0018852 UMLS_CUI:C0018854 UMLS_CUI:C0242310 disease_ontology lschriml A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. url:http://en.wikipedia.org/wiki/Heavy_chain_disease alpha chain disease 2011-08-22T11:23:09Z A heavy chain disease that results from an overproduction of alpha antibodies (IgA). DOID:0060126 Seligmann's disease disease_ontology lschriml A heavy chain disease that results from an overproduction of alpha antibodies (IgA). url:http://en.wikipedia.org/wiki/Heavy_chain_disease gamma heavy chain disease 2011-08-22T11:23:09Z A heavy chain disease that results from an overproduction of gamma antibody (IgG). DOID:0060127 Franklin's disease disease_ontology lschriml A heavy chain disease that results from an overproduction of gamma antibody (IgG). url:http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx mu chain disease 2011-08-22T11:23:09Z A heavy chain disease that results from an overproduction of mu antibody (IgM). DOID:0060128 disease_ontology lschriml A heavy chain disease that results from an overproduction of mu antibody (IgM). url:http://en.wikipedia.org/wiki/Heavy_chain_disease delta chain disease 2011-08-22T11:23:09Z A heavy chain disease that results from an overproduction of delta antibody (IgD). DOID:0060129 disease_ontology lschriml A heavy chain disease that results from an overproduction of delta antibody (IgD). url:http://en.wikipedia.org/wiki/Heavy_chain_disease akinetopsia 2011-08-22T12:04:56Z An agnosia that is a loss of motion perception. DOID:0060130 disease_ontology lschriml An agnosia that is a loss of motion perception. url:http://en.wikipedia.org/wiki/Agnosia alexithymia 2011-08-22T12:04:56Z An agnosia that is a deficiency in understanding, processing, or describing emotions. DOID:0060131 disease_ontology lschriml An agnosia that is a deficiency in understanding, processing, or describing emotions. url:http://en.wikipedia.org/wiki/Agnosia amusia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. DOID:0060132 disease_ontology lschriml receptive amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. url:http://en.wikipedia.org/wiki/Agnosia anosognosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. DOID:0060133 disease_ontology lschriml An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. url:http://en.wikipedia.org/wiki/Agnosia apperceptive agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to distinguish visual shapes. DOID:0060134 disease_ontology lschriml An agnosia that is a loss of the ability to distinguish visual shapes. url:http://en.wikipedia.org/wiki/Agnosia apraxia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. DOID:0060135 disease_ontology lschriml An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. url:http://en.wikipedia.org/wiki/Agnosia associative agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. DOID:0060136 disease_ontology lschriml An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. url:http://en.wikipedia.org/wiki/Agnosia auditory agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. DOID:0060137 disease_ontology lschriml An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. url:http://en.wikipedia.org/wiki/Agnosia autotopagnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to orient parts of the body. DOID:0060138 disease_ontology lschriml An agnosia that is a loss of the ability to orient parts of the body. url:http://en.wikipedia.org/wiki/Agnosia color agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. DOID:0060139 disease_ontology lschriml An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. url:http://en.wikipedia.org/wiki/Agnosia cortical deafness 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. DOID:0060140 disease_ontology lschriml An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. url:http://en.wikipedia.org/wiki/Agnosia finger agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to distinguish the fingers on the hand. DOID:0060141 disease_ontology lschriml An agnosia that is a loss of the ability to distinguish the fingers on the hand. url:http://en.wikipedia.org/wiki/Agnosia form agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. DOID:0060142 disease_ontology lschriml An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. url:http://en.wikipedia.org/wiki/Agnosia integrative agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. DOID:0060143 disease_ontology lschriml An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. url:http://en.wikipedia.org/wiki/Agnosia mirror agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. DOID:0060144 disease_ontology lschriml An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. url:http://en.wikipedia.org/wiki/Agnosia pain agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to perceive and process pain. DOID:0060145 analgesia disease_ontology lschriml An agnosia that is a loss of the ability to perceive and process pain. url:http://en.wikipedia.org/wiki/Agnosia phonagnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognize familiar voices. DOID:0060146 disease_ontology lschriml An agnosia that is a loss of the ability to recognize familiar voices. url:http://en.wikipedia.org/wiki/Agnosia semantic agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. DOID:0060147 disease_ontology lschriml An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. url:http://en.wikipedia.org/wiki/Agnosia simultanagnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. DOID:0060148 disease_ontology lschriml An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. url:http://en.wikipedia.org/wiki/Agnosia social emotional agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. DOID:0060149 disease_ontology expressive agnosia lschriml An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. url:http://en.wikipedia.org/wiki/Agnosia astereognosia 2011-08-22T12:04:56Z An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. DOID:0060150 disease_ontology lschriml somatosensory agnosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. url:http://en.wikipedia.org/wiki/Agnosia tactile agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognize or identify objects by touch alone. DOID:0060151 disease_ontology lschriml An agnosia that is a loss of the ability to recognize or identify objects by touch alone. url:http://en.wikipedia.org/wiki/Agnosia time agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to comprehend the succession and duration of events. DOID:0060152 disease_ontology lschriml An agnosia that is a loss of the ability to comprehend the succession and duration of events. url:http://en.wikipedia.org/wiki/Agnosia topographical agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. DOID:0060153 disease_ontology lschriml An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. url:http://en.wikipedia.org/wiki/Agnosia verbal auditory agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. DOID:0060154 disease_ontology lschriml An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. url:http://en.wikipedia.org/wiki/Agnosia visual agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to visually recognize objects. DOID:0060155 MSH:C531604 UMLS_CUI:C2930796 disease_ontology lschriml An agnosia that is a loss of the ability to visually recognize objects. url:http://en.wikipedia.org/wiki/Agnosia visual verbal agnosia 2011-08-22T12:04:56Z An agnosia that is a loss of the ability to comprehending the meaning of written words. DOID:0060156 disease_ontology lschriml An agnosia that is a loss of the ability to comprehending the meaning of written words. url:http://en.wikipedia.org/wiki/Agnosia diffuse alopecia areata 2011-08-22T03:45:02Z An alopecia areata that involves diffuse loss of hair over the whole scalp. DOID:0060157 MSH:C531609 SNOMEDCT_US_2015_03_01:201138007 SNOMEDCT_US_2015_03_01:403331000 UMLS_CUI:C0406458 UMLS_CUI:C1274706 UMLS_CUI:C1862862 UMLS_CUI:C2936778 UMLS_CUI:C3179487 UMLS_CUI:C3179488 UMLS_CUI:C3179489 disease_ontology lschriml An alopecia areata that involves diffuse loss of hair over the whole scalp. url:http://en.wikipedia.org/wiki/Alopecia_areata acquired metabolic disease 2011-08-24T02:53:03Z A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. DOID:0060158 disease_ontology lschriml A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 organic acidemia 2011-08-26T11:17:14Z An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. DOID:0060159 disease_ontology lschriml organic acid metabolism disorder organic aciduria An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. url:http://en.wikipedia.org/wiki/Aciduria survival motor neuron spinal muscular atrophy 2011-08-29T01:15:14Z A spinal muscular atrophy that is associated with the survival of motor neuron protein. DOID:0060160 ICD10CM:G12.0 ICD9CM:335.0 ICD9CM:335.11 MSH:D014897 NCI:C85076 NCI:C98670 SNOMEDCT_US_2015_03_01:128212001 SNOMEDCT_US_2015_03_01:155016008 SNOMEDCT_US_2015_03_01:267694009 SNOMEDCT_US_2015_03_01:54280009 SNOMEDCT_US_2015_03_01:64383006 UMLS_CUI:C0043116 UMLS_CUI:C0152109 UMLS_CUI:C0393538 UMLS_CUI:C0700595 disease_ontology lschriml spinal muscular atrophies of childhood A spinal muscular atrophy that is associated with the survival of motor neuron protein. url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy Kennedy's disease 2011-08-29T01:31:03Z A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. DOID:0060161 Kennedy disease MSH:D055534 NCI:C85233 OMIM:313200 SBMA SNOMEDCT_US_2015_03_01:230253001 Spinobulbar Muscular Atrophy UMLS_CUI:C1839259 X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy disease_ontology lschriml spinal bulbar muscular atrophy A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. url:http://en.wikipedia.org/wiki/Kennedy_disease dentatorubral-pallidoluysian atrophy 2011-08-29T01:41:48Z An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. DOID:0060162 DRPLA Haw River Syndrome MSH:D020191 NCI:C7636 Naito-Oyanagi disease OMIM:125370 SNOMEDCT_US_2015_03_01:192844008 SNOMEDCT_US_2015_03_01:267581004 SNOMEDCT_US_2015_03_01:68116008 SNOMEDCT_US_2015_03_01:702422004 SNOMEDCT_US_2015_03_01:89480000 UMLS_CUI:C0751776 UMLS_CUI:C0751777 UMLS_CUI:C0751778 UMLS_CUI:C0751779 UMLS_CUI:C0751780 UMLS_CUI:C0751781 UMLS_CUI:C0751782 disease_ontology lschriml An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy body dysmorphic disorder 2011-09-07T01:38:34Z A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). DOID:0060163 body dysmorphia disease_ontology dysmorphic syndrome dysmorphophobia lschriml A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder pain disorder 2011-09-07T01:42:46Z A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. DOID:0060164 disease_ontology lschriml A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. url:http://en.wikipedia.org/wiki/Pain_disorder Kleine-Levin syndrome 2011-09-07T02:46:02Z A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. DOID:0060165 disease_ontology lschriml A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome bipolar ll disorder 2011-09-09T02:27:46Z A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. DOID:0060166 disease_ontology lschriml A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. url:http://en.wikipedia.org/wiki/Bipolar_II seasonal affective disorder 2011-09-09T02:53:18Z A mental depression that involves presentation of depressive symptoms only during a specific season of the year. DOID:0060167 disease_ontology lschriml winter depression A mental depression that involves presentation of depressive symptoms only during a specific season of the year. url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder histidinemia 2011-09-20T12:47:05Z A histidine metabolism disease that involves a deficiency of the enzyme histidase. DOID:0060168 disease_ontology histidinuria lschriml A histidine metabolism disease that involves a deficiency of the enzyme histidase. url:http://en.wikipedia.org/wiki/Histidinemia benign familial infantile epilepsy 2011-10-28T02:55:02Z An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. BFIC BFIE DOID:0060169 OMIM:601764 OMIM:605751 OMIM:607745 OMIM:612627 ORDO:306 Xref MGI. benign familial infantile convulsion benign familial infantile seizures disease_ontology lschriml An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. url:http://www.ncbi.nlm.nih.gov/pubmed/12503648 generalized epilepsy with febrile seizures plus 2011-10-28T02:57:50Z An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. DOID:0060170 GEFS+ ICD10CM:G40.3 OMIM:604233 OMIM:604403 OMIM:609800 OMIM:611277 OMIM:612279 OMIM:613828 OMIM:613863 ORDO:36387 Xref MGI. disease_ontology lschriml An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. url:http://www.ncbi.nlm.nih.gov/pubmed/22011963 Dravet Syndrome 2011-10-28T03:14:46Z An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. DOID:0060171 OMIM:607208 SMEI disease_ontology lschriml severe myoclonic epilepsy in infancy An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. url:http://dravet.org/about-dravet/smei url:http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm juvenile absence epilepsy 2011-11-08T10:42:18Z An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. DOID:0060172 disease_ontology lschriml An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org Timothy syndrome 2011-11-08T12:52:33Z An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. DOID:0060173 disease_ontology lschriml An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. url:http://www.ncbi.nlm.nih.gov/books/NBK1403/ GABA aminotransferase deficiency 2011-11-08T01:52:22Z A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. DOID:0060174 Gamma-amino butyric acid transaminase deficiency OMIM:613163 disease_ontology gamma-aminobutyric acid transaminase deficiency lschriml A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. url:http://pathman.smpdb.ca/pathways/SMP00351/pathway url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf succinic semialdehyde dehydrogenase deficiency 2011-11-08T02:02:12Z 4-hydroxybutyric aciduria A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. DOID:0060175 SSADH disease_ontology gamma-hydroxybutyric aciduria lschriml A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism gamma-amino butyric acid metabolism disorder 2011-11-08T02:02:12Z An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. DOID:0060176 disease_ontology lschriml An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. url:http://www.ncbi.nlm.nih.gov/pubmed/12891648 homocarnosinosis 2011-11-08T02:02:12Z A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. DOID:0060177 disease_ontology lschriml A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. url:http://en.wikipedia.org/wiki/Carnosinemia url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf familial hemiplegic migraine 2011-11-08T02:54:32Z A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. DOID:0060178 ICD10CM:G43.8 ICD9CM:346.8 OMIM:141500 OMIM:300125 OMIM:602481 OMIM:607516 OMIM:609634 ORDO:569 SNOMEDCT_US_2015_03_01:193037008 SNOMEDCT_US_2015_03_01:193040008 SNOMEDCT_US_2015_03_01:194493009 UMLS_CUI:C0477373 Xref MGI. disease_ontology lschriml A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine Renpenning syndrome 2011-11-08T03:21:30Z An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. DOID:0060179 OMIM:309500 disease_ontology lschriml An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome colitis 2014-09-12T14:31:45Z An inflammatory bowel disease that involves inflammation located_in colon. DOID:0060180 EFO:0003872 ICD10CM:K52.9 MSH:D003092 NCI:C26723 OMIM:191390 SNOMEDCT:64226004 SNOMEDCT_US_2015_03_01:64226004 UMLS_CUI:C0009319 disease_ontology emitraka An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis ischemic colitis 2014-09-12T14:36:51Z A colitis caused_by inadequate blood supply to the colon. CTV3:X303v DOID:0060181 ICD10CM:K55.9 MSH:D017091 SNOMEDCT:30588004 SNOMEDCT_US_2015_03_01:30588004 UMLS_CUI:C0162529 disease_ontology emitraka A colitis caused_by inadequate blood supply to the colon. url:http://en.wikipedia.org/wiki/Ischemic_colitis url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 microscopic colitis 2014-09-12T14:49:18Z A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. CTV3:X303w DOID:0060182 MSH:D046728 NCI:C38504 ORDO:58220 SNOMEDCT:235753003 SNOMEDCT_US_2015_03_01:235753003 UMLS_CUI:C0400821 disease_ontology emitraka A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Microscopic_colitis url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 collagenous colitis 2014-09-12T14:56:28Z A colitis characterized by a distinctive thickening of the subepithelial collagen table. DOID:0060183 Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. ICD10CM:K52.89 MEDDRA:10048928 MSH:D046729 NCI:C27021 SNOMEDCT:19311003 SNOMEDCT_US_2015_03_01:19311003 UMLS_CUI:C0238067 disease_ontology emitraka A colitis characterized by a distinctive thickening of the subepithelial collagen table. url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Collagenous_colitis lymphocytic colitis 2014-09-12T14:58:50Z A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). DOID:0060184 ICD10CM:K52.89 MEDDRA:10025268 MSH:D046730 NCI:C27147 ORDO:65279 SNOMEDCT_US_2015_03_01:31437008 The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. UMLS_CUI:C0400822 disease_ontology emitraka A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Lymphocytic_colitis Clostridium difficile colitis 2014-09-12T15:01:17Z A colitis characterized by an overgrowth of Clostridium difficile bacteria. DOID:0060185 ICD10CM:A04.7 MEDDRA:10009657 MSH:D004761 Pseudomembranous colitis SNOMEDCT:423590009 SNOMEDCT_US_2015_03_01:155783000 SNOMEDCT_US_2015_03_01:197019008 SNOMEDCT_US_2015_03_01:197033008 SNOMEDCT_US_2015_03_01:197124009 SNOMEDCT_US_2015_03_01:235752008 SNOMEDCT_US_2015_03_01:266525002 SNOMEDCT_US_2015_03_01:397683000 SNOMEDCT_US_2015_03_01:397696004 SNOMEDCT_US_2015_03_01:51180003 UMLS_CUI:C0014358 UMLS_CUI:C0085819 UMLS_CUI:C1257843 UMLS_CUI:C1257844 UMLS_CUI:C1257845 disease_ontology emitraka A colitis characterized by an overgrowth of Clostridium difficile bacteria. url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm MSH:D004761 Pseudomembranous colitis chemical colitis 2014-09-12T15:08:50Z A colitis caused_by introduction of various chemicals. DOID:0060186 ICD10CM:K52 ICD9CM:558 ICD9CM:558.9 SNOMEDCT:72965009 UMLS_CUI:C0029512 disease_ontology emitraka A colitis caused_by introduction of various chemicals. url:http://en.wikipedia.org/wiki/Chemical_colitis url:http://www.ncbi.nlm.nih.gov/pubmed/18209577 diversion colitis 2014-09-12T15:14:29Z A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. DOID:0060187 ICD10CM:K52 ICD9CM:558 ICD9CM:558.9 SNOMEDCT:51290000 UMLS_CUI:C0029512 disease_ontology emitraka A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. url:http://en.wikipedia.org/wiki/Diversion_colitis url:http://www.ncbi.nlm.nih.gov/pubmed/1916483 jejunoileitis 2014-09-15T10:51:02Z An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. DOID:0060188 ICD10CM:K50.0 disease_ontology emitraka An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html url:http://www.ncbi.nlm.nih.gov/pubmed/15973125 ileitis 2014-09-15T11:40:07Z An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. CSP:1248-5305 CTV3:X302s Crohn's ileitis DOID:0060189 ICD10CM:K52.9 MEDDRA:10021312 MSH:D007079 NCI:C84782 NDFRT:N0000001662 SNOMEDCT:52457000 SNOMEDCT_US_2015_03_01:52457000 UMLS_CUI:C0020877 WHO:1316 disease_ontology emitraka An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. url:http://en.wikipedia.org/wiki/Ileitis url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html ileocolitis 2014-09-15T12:22:19Z An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. DOID:0060190 ICD10CM:K52.9 MEDDRA:10062647 OWL classification. disease_ontology emitraka An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html gastroduodenal Crohn's disease 2014-09-15T12:35:28Z An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. DOID:0060191 ICD10CM:K50.0 disease_ontology emitraka upper GI Crohn's disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html url:http://www.ncbi.nlm.nih.gov/pubmed/12769447 Crohn's colitis 2014-09-15T12:50:24Z An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. DOID:0060192 ICD10CM:K50.911 ICD10CM:K50.913 ICD10CM:K50.914 OWL classification. disease_ontology emitraka An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html amyotrophic lateral sclerosis type 1 2014-09-16T13:04:32Z ALS1 DOID:0060193 OMIM:105400 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. amyotrophic lateral sclerosis 1 disease_ontology emitraka OMIM:105400 amyotrophic lateral sclerosis 1 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis ALS1 OMIM:105400 amyotrophic lateral sclerosis type 2 2014-09-16T13:12:14Z A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. ALS2 DOID:0060194 OMIM:205100 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile disease_ontology emitraka OMIM:205100 amyotrophic lateral sclerosis 2, juvenile ALS2 OMIM:205100 A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/205100 OMIMl:205100 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis type 3 2014-09-16T13:18:38Z A type of ALS with loci associated with the disease located_in chromosome 18. ALS3 DOID:0060195 OMIM:606640 amyotrophic lateral sclerosis 3 disease_ontology emitraka OMIM:606640 amyotrophic lateral sclerosis 3 A type of ALS with loci associated with the disease located_in chromosome 18. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/606640 ALS3 OMIM:606640 amyotrophic lateral sclerosis type 4 2014-09-16T13:49:59Z A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. ALS 4 DOID:0060196 OMIM:602433 ORDO:357043 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs disease_ontology distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs emitraka A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602433 OMIM:602433 amyotrophic lateral sclerosis 4, juvenile OMIM:602433 distal hereditary motor neuropathy with pyramidal features ORDO:357043 dHMN with upper motor neuron signs OMIM:602433 amyotrophic lateral sclerosis 4 ORDO:357043 distal hereditary motor neuropathy with upper motor neuron signs ALS 4 OMIM:602433 amyotrophic lateral sclerosis type 5 2014-09-16T14:17:01Z A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. ALS5 DOID:0060197 OMIM:602099 amyotrophic lateral sclerosis 5 disease_ontology emitraka A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602099 ALS5 OMIM:602099 OMIM:602099 amyotrophic lateral sclerosis 5 amyotrophic lateral sclerosis type 6 2014-09-16T14:21:07Z A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16. ALS6 DOID:0060198 OMIM:608030 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6 disease_ontology emitraka OMIM:608030 autosomal recessive amyotrophic lateral sclerosis 6 ALS6 OMIM:608030 A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608030 OMIM:608030 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia amyotrophic lateral sclerosis type 7 2014-09-16T14:28:41Z A type of ALS with loci associated with the disease located_in chromosome 20. ALS7 DOID:0060199 OMIM:608031 amyotrophic lateral sclerosis 7 disease_ontology emitraka ALS7 OMIM:608031 OMIM:608031 amyotrophic lateral sclerosis 7 A type of ALS with loci associated with the disease located_in chromosome 20. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608031 amyotrophic lateral sclerosis type 9 2014-09-16T14:33:09Z A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. ALS9 DOID:0060200 OMIM:611895 amyotrophic lateral sclerosis 9 disease_ontology emitraka ALS9 OMIM:611895 OMIM:611895 amyotrophic lateral sclerosis 9 A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/611895 amyotrophic lateral sclerosis type 10 2014-09-16T14:36:54Z A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. ALS10 DOID:0060201 OMIM:612069 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia disease_ontology emitraka A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612069 OMIM:612069 amyotrophic lateral sclerosis 10 ALS10 OMIM:612069 OMIM:612069 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions OMIM:612069 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia amyotrophic lateral sclerosis type 11 2014-09-16T14:49:07Z A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. ALS11 DOID:0060202 OMIM:612577 amyotrophic lateral sclerosis 11 disease_ontology emitraka OMIM:612577 amyotrophic lateral sclerosis 11 ALS11 OMIM:612577 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612577 amyotrophic lateral sclerosis type 12 2014-09-16T14:53:12Z A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. ALS12 DOID:0060203 OMIM:613435 amyotrophic lateral sclerosis 12 disease_ontology emitraka A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613435 ALS12 OMIM:613435 OMIM:613435 amyotrophic lateral sclerosis 12 amyotrophic lateral sclerosis type 13 2014-09-16T14:56:08Z A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility. ALS13 An association between 29 or more CAG repeats and the development of ALS13 exists. DOID:0060204 OMIM:183090 amyotrophic lateral sclerosis 13 disease_ontology emitraka ALS13 OMIM:183090 A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/183090 OMIM:183090 amyotrophic lateral sclerosis 13 amyotrophic lateral sclerosis type 14 2014-09-16T15:02:22Z A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9. ALS14 DOID:0060205 OMIM:613954 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia disease_ontology emitraka ALS14 OMIM:613954 OMIM:613954 amyotrophic lateral sclerosis, with or without frontotemporal dementia OMIM:613954 amyotrophic lateral sclerosis 14 A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613954 amyotrophic lateral sclerosis type 15 2014-09-16T15:12:48Z A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome. ALS15 DOID:0060206 Described in one family only. OMIM:300857 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia disease_ontology emitraka OMIM:300857 amyotrophic lateral sclerosis 15 ALS15 OMIM:300857 A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/300857 OMIM:300857 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia amyotrophic lateral sclerosis type 16 2014-09-16T15:17:01Z A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9. ALS16 DOID:0060207 OMIM:614373 amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis 16, juvenile disease_ontology emitraka A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614373 OMIM:614373 amyotrophic lateral sclerosis 16, juvenile ALS16 OMIM:614373 OMIM:614373 amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis type 17 2014-09-16T15:20:50Z A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3. ALS17 CHMP2B-related amyotrophic lateral sclerosis DOID:0060208 OMIM:614696 amyotrophic lateral sclerosis 17 disease_ontology emitraka ALS17 OMIM:614696 OMIM:614696 amyotrophic lateral sclerosis 17 CHMP2B-related amyotrophic lateral sclerosis OMIM:614696 A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614696 amyotrophic lateral sclerosis type 18 2014-09-16T15:24:08Z A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17. ALS18 DOID:0060209 OMIM:614808 amyotrophic lateral sclerosis 18 disease_ontology emitraka ALS18 OMIM:614808 A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614808 OMIM:614808 amyotrophic lateral sclerosis 18 amyotrophic lateral sclerosis type 19 2014-09-16T15:30:22Z A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2. ALS19 DOID:0060210 OMIM:615515 amyotrophic lateral sclerosis 19 disease_ontology emitraka OMIM:615515 amyotrophic lateral sclerosis 19 ALS19 OMIM:615515 A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615515 amyotrophic lateral sclerosis type 20 2014-09-16T15:34:12Z A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12. ALS20 DOID:0060211 OMIM:615426 amyotrophic lateral sclerosis 20 disease_ontology emitraka OMIM:615426 amyotrophic lateral sclerosis 20 ALS20 OMIM:615426 A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615426 amyotrophic lateral sclerosis type 21 2014-09-16T16:06:31Z A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5. ALS21 DOID:0060212 OMIM:606070 disease_ontology emitraka ALS21 OMIM:606070 A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5. url:http://omim.org/entry/606070 FTDALS1 2014-09-16T16:36:24Z A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. ALSFTD DOID:0060213 FTDMND OMIM:105550 amyotrophic lateral sclerosis and/or frontotemporal dementia disease_ontology emitraka frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or motor neuron disease OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/105550 FTDMND OMIM:105550 OMIM:105550 frontotemporal dementia and/or motor neuron disease OMIM:105550 amyotrophic lateral sclerosis and/or frontotemporal dementia ALSFTD OMIM:105550 FTDALS2 2014-09-16T16:44:08Z A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. DOID:0060214 disease_ontology emitraka frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/615911 url:http://www.ncbi.nlm.nih.gov/pubmed/24934289 Balo concentric sclerosis 2014-09-18T15:02:17Z A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. Balo's concentric sclerosis DOID:0060215 ICD10CM:G31.81 ICD10CM:G37.0 ICD9CM:341.1 MSH:D002549 NCI:C35257 NCI:C84670 SNOMEDCT:230380005 SNOMEDCT_US_2015_03_01:155059003 SNOMEDCT_US_2015_03_01:192932009 SNOMEDCT_US_2015_03_01:192938008 SNOMEDCT_US_2015_03_01:20415001 SNOMEDCT_US_2015_03_01:230380005 SNOMEDCT_US_2015_03_01:267702006 SNOMEDCT_US_2015_03_01:44875002 SNOMEDCT_US_2015_03_01:49692006 Similar to standard multiple sclerosis. UMLS_CUI:C0004712 UMLS_CUI:C0007795 UMLS_CUI:C0205710 disease_ontology emitraka A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis Cogan syndrome 2014-09-22T16:29:20Z A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. Cogan's syndrome DOID:0060216 ICD10CM:H16.32 MSH:D055952 ORDO:1467 OWL also bilateral audiovestibular deficits. SNOMEDCT_US_2015_03_01:193785001 SNOMEDCT_US_2015_03_01:231906002 SNOMEDCT_US_2015_03_01:26018001 SNOMEDCT_US_2015_03_01:405810005 UMLS_CUI:C0271270 diffuse interstitual keratitis disease_ontology emitraka Cogan's syndrome ICD10CM:H16.32 A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. url:http://en.wikipedia.org/wiki/Cogan_syndrome ICD10CM:H16.32 diffuse interstitual keratitis Cogan-Reese syndrome 2014-09-23T12:31:25Z A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. DOID:0060217 MEDDRA:10059200 NCI:C84644 ORDO:98980 SNOMEDCT_US_2015_03_01:129624009 SNOMEDCT_US_2015_03_01:404633004 UMLS_CUI:C1168173 disease_ontology emitraka A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome url:http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 CREST syndrome 2014-09-24T16:30:36Z A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. DOID:0060218 ICD10CM:M34.1 MSH:D017675 NCI:C70646 OMIM:181750 SNOMEDCT_US_2015_03_01:156453002 SNOMEDCT_US_2015_03_01:201442004 SNOMEDCT_US_2015_03_01:31848007 SNOMEDCT_US_2015_03_01:62382002 UMLS_CUI:C0206138 UMLS_CUI:C1527226 disease_ontology emitraka A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. url:http://en.wikipedia.org/wiki/CREST_syndrome lymph node adenoid cystic carcinoma 2014-11-05T09:11:16Z A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. DOID:0060219 disease_ontology emitraka lymph node adenoid cystic cancer A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:http://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109 url:http://www.oralcancerfoundation.org/facts/rare/ac/ physical urticaria 2014-11-21T15:51:38Z An urticaria induced by external physical influences. DOID:0060220 WD correction. disease_ontology emitraka An urticaria induced by external physical influences. ISBN:1416029990 url:http://en.wikipedia.org/wiki/Physical_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html Maffucci syndrome 2014-11-26T11:16:24Z A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. DOID:0060221 ICD10CM:Q78.4 OMIM:614569 ORDO:163634 WD former synonym. disease_ontology emitraka A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. url:http://en.wikipedia.org/wiki/Maffucci_syndrome url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome Scheie syndrome 2014-11-26T11:32:20Z A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. DOID:0060222 ICD10CM:E76.0 OMIM:607016 ORDO:93474 WD former synonym. disease_ontology emitraka mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. url:http://en.wikipedia.org/wiki/Scheie_syndrome agraphia 2014-11-26T11:44:01Z An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. DOID:0060223 ICD10CM:R48.8 disease_ontology emitraka An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. url:http://en.wikipedia.org/wiki/Agraphia url:http://www.ncbi.nlm.nih.gov/pubmed/21507544 atrial fibrillation 2015-01-16T14:55:21Z A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. A-fib DOID:0060224 HP:0005110 ICD9CM:427.31 MSH:D001281 NCI:C50466 SNOMEDCT_US_2015_03_01:155364009 SNOMEDCT_US_2015_03_01:266306001 SNOMEDCT_US_2015_03_01:49436004 UMLS_CUI:C0004238 disease_ontology emitraka A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. url:http://en.wikipedia.org/wiki/Atrial_fibrillation url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 url:http://www.nhlbi.nih.gov/health/health-topics/topics/af 3MC syndrome 2015-01-16T15:08:40Z A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. DOID:0060225 ICD10CM:Q87.8 OMIM:248340 OMIM:257920 OMIM:265050 ORDO:293843 Xref MGI. craniofacial-ulnar-renal syndrome disease_ontology emitraka oculopalatoskeletal syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. url:http://www.ncbi.nlm.nih.gov/pubmed/16096999 acrofrontofacionasal dysostosis 2015-01-16T15:39:56Z A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. AFFN dysostosis DOID:0060226 MSH:C538186 OMIM:201180 OMIM:239710 ORDO:1784 Richieri-Costa-Colletto syndrome UMLS_CUI:C1860118 Xref MGI. disease_ontology emitraka A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis url:http://www.ncbi.nlm.nih.gov/pubmed/2986457 Adams-Oliver syndrome 2015-01-16T15:48:40Z A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. Adams Oliver syndrome DOID:0060227 ICD10CM:Q87.2 MSH:C538225 OMIM:100300 OMIM:614219 OMIM:614814 OMIM:615297 OMIM:616028 SNOMEDCT_US_2015_03_01:34748004 UMLS_CUI:C0265268 Xref MGI. disease_ontology emitraka A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. PMID:18000904 url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract intracranial berry aneurysm 2015-01-16T16:24:39Z An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. DOID:0060228 HP:0007029 ICD10CM:I60.7 OMIM:105800 OMIM:300870 OMIM:608542 OMIM:609122 OMIM:610213 OMIM:611892 OMIM:612161 OMIM:612162 OMIM:612586 OMIM:612587 OMIM:614252 ORDO:231160 Xref MGI. disease_ontology emitraka familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. url:http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms url:http://radiopaedia.org/articles/saccular-cerebral-aneurysm url:http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85,P08772/ Baraitser-Winter syndrome 2015-01-16T16:52:25Z A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. DOID:0060229 ICD10CM:Q87.0 OMIM:243310 OMIM:614583 Xref MGI. disease_ontology emitraka A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome basal ganglia calcification 2015-01-22T13:09:08Z A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. DOID:0060230 Fahr disease HP:0002135 MSH:C536275 NT MGI. OMIM:114100 OMIM:213600 OMIM:606656 OMIM:615007 OMIM:615483 SNOMEDCT_US_2015_03_01:110997000 UMLS_CUI:C0393590 childhood-onset idiopathic basal ganglia calcification disease_ontology emitraka idiopathic basal ganglia calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract Bruck syndrome 2015-01-23T15:12:40Z A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. DOID:0060231 ICD10CM:M21.8 NT MGI. OMIM:259450 OMIM:609220 ORDO:2771 disease_ontology emitraka osteogenesis imperfecta with congenital joint contractures A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. url:http://en.wikipedia.org/wiki/Bruck_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/9129737 branchiootic syndrome 2015-01-23T15:24:02Z A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. BO syndrome BOR DOID:0060232 ICD10CM:Q87.0 NT MGI. OMIM:120502 OMIM:602588 OMIM:608389 ORDO:52429 branchiootic dysplasia disease_ontology emitraka A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. url:http://www.ncbi.nlm.nih.gov/pubmed/22901925 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract cardiofaciocutaneous syndrome 2015-01-23T15:37:07Z A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. CFC syndrome DOID:0060233 ICD10CM:Q87.8 NT MGI. OMIM:115150 OMIM:615278 OMIM:615279 OMIM:615280 ORDO:1340 cardio-facial-cutaneous syndrome disease_ontology emitraka A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract Carpenter syndrome 2015-01-23T16:06:03Z An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. DOID:0060234 MSH:C563187 NCI:C98873 NT MGI. OMIM:201000 OMIM:614976 ORDO:65759 SNOMEDCT_US_2015_03_01:205813009 SNOMEDCT_US_2015_03_01:403767009 UMLS_CUI:C1275078 acrocephalopolysyndactyly type II disease_ontology emitraka An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. url:http://en.wikipedia.org/wiki/Carpenter_syndrome url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract carnitine palmitoyltransferase II deficiency 2015-01-23T16:35:22Z A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. CPT-II DOID:0060235 MSH:C535589 NT MGI. OMIM:255110 OMIM:600649 OMIM:608836 ORDO:157 SNOMEDCT_US_2015_03_01:238002005 UMLS_CUI:C0342790 disease_ontology emitraka infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency xanthinuria 2015-01-27T14:10:42Z A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. DOID:0060236 HP:0010934 MSH:C562584 MSH:C566358 NT MGI. OMIM:278300 OMIM:603592 ORDO:3467 SNOMEDCT_US_2015_03_01:124147007 SNOMEDCT_US_2015_03_01:72682008 UMLS_CUI:C0268118 UMLS_CUI:C1863688 disease_ontology emitraka xanthine dehydrogenase deficiency xanthine oxidase deficiency A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. url:http://en.wikipedia.org/wiki/Xanthinuria url:http://www.ncbi.nlm.nih.gov/pubmed/4369449 Warburg micro syndrome 2015-01-27T14:32:30Z An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. DOID:0060237 MSH:C536681 NT MGI. OMIM:600118 OMIM:614222 OMIM:614225 OMIM:615663 ORDO:2510 UMLS_CUI:C1838625 WARBM Warburg-Sjo-Fledelius syndrome disease_ontology emitraka micro syndrome An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. url:http://en.wikipedia.org/wiki/Micro_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/22768674 Van Maldergem syndrome 2015-01-27T15:42:05Z A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. DOID:0060238 MSH:C536530 NT MGI. OMIM:601390 OMIM:615546 ORDO:314679 UMLS_CUI:C1832390 cerebro-facio-articular syndrome disease_ontology emitraka A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. url:http://www.ncbi.nlm.nih.gov/pubmed/1633641 Van der Woude syndrome 2015-01-27T15:51:56Z A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. DOID:0060239 ICD10CM:Q38.0 MSH:C536528 MSH:C563529 NCI:C74986 NT MGI. OMIM:119300 OMIM:606713 ORDO:888 SNOMEDCT_US_2015_03_01:79261008 UMLS_CUI:C0175697 UMLS_CUI:C1834339 disease_ontology emitraka lip-pit syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome UV-sensitive syndrome 2015-01-27T16:00:50Z An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). DOID:0060240 MSH:563466 NT MGI. OMIM:600630 OMIM:614621 OMIM:614640 ORDO:178338 disease_ontology emitraka An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome 3-M syndrome 2015-01-27T16:10:58Z An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. DOID:0060241 Le Merrer syndrome MSH:C535314 MSH:C535725 Miller-McKusick-Malvaux syndrome NT MGI. OMIM:273750 OMIM:612921 OMIM:614205 ORDO:2616 SNOMEDCT_US_2015_03_01:702342007 UMLS_CUI:C1848862 UMLS_CUI:C1851996 Yakut short stature syndrome disease_ontology dolichospondylic dysplasia emitraka gloomy face syndrome three M syndrome An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. url:http://en.wikipedia.org/wiki/3-M_syndrome url:http://ghr.nlm.nih.gov/condition/3-m-syndrome synpolydactyly 2015-01-27T16:57:56Z A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. DOID:0060242 MSH:C538153 NCI:C75003 NT MGI. OMIM:186000 OMIM:608180 OMIM:610234 ORDO:295195 UMLS_CUI:C2699746 disease_ontology emitraka syndactyly type 2 A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. url:http://en.wikipedia.org/wiki/Synpolydactyly url:http://www.ncbi.nlm.nih.gov/pubmed/18177473 url:http://www.ncbi.nlm.nih.gov/pubmed/8817328 stuttering 2015-01-28T16:04:54Z An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. DOID:0060243 ICD10CM:F80.81 MSH:D013342 NCI:C35043 NT MGI. OMIM:184450 OMIM:609261 OMIM:614655 OMIM:614668 SNOMEDCT_US_2015_03_01:154935003 SNOMEDCT_US_2015_03_01:191987007 SNOMEDCT_US_2015_03_01:192632007 SNOMEDCT_US_2015_03_01:229631007 SNOMEDCT_US_2015_03_01:231512003 SNOMEDCT_US_2015_03_01:231513008 SNOMEDCT_US_2015_03_01:29916003 SNOMEDCT_US_2015_03_01:39423001 SNOMEDCT_US_2015_03_01:416163003 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627 disease_ontology emitraka familial persistent stuttering stammering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. url:http://en.wikipedia.org/wiki/Stuttering url:http://www.asha.org/public/speech/disorders/stuttering.htm url:http://www.merriam-webster.com/dictionary/stutter specific language impairment 2015-01-28T16:29:51Z A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. DOID:0060244 NT MGI. OMIM:606711 OMIM:606712 OMIM:612514 OMIM:615432 OMIM:617134 disease_ontology emitraka A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. url:http://en.wikipedia.org/wiki/Specific_language_impairment url:http://www.ncbi.nlm.nih.gov/pubmed/19646677 Mast syndrome 2015-01-28T16:42:37Z A hereditary spastic paraplegia associated with dementia. DOID:0060245 ICD10CM:G11.4 NT MGI. OMIM:248900 ORDO:101001 autosomal recessive spastic paraplegia 21 disease_ontology emitraka A hereditary spastic paraplegia associated with dementia. url:http://ghr.nlm.nih.gov/gene/SPG21 url:http://www.ncbi.nlm.nih.gov/pubmed/6024251 MASA syndrome 2015-01-28T16:49:53Z A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. CRASH syndrome DOID:0060246 Gareis-Mason syndrome L1 syndrome MSH:C536029 NT MGI. OMIM:303350 ORDO:2466 UMLS_CUI:C0795953 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis disease_ontology emitraka A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. url:http://en.wikipedia.org/wiki/MASA_syndrome url:http://ghr.nlm.nih.gov/condition/l1-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract Smith-McCort dysplasia 2015-01-29T15:06:25Z An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. DOID:0060247 MSH:C564589 NT MGI. OMIM:607326 OMIM:615222 ORDO:178355 UMLS_CUI:C1846431 disease_ontology emitraka An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. url:http://www.ncbi.nlm.nih.gov/pubmed/1216821 Simpson-Golabi-Behmel syndrome 2015-01-29T15:15:46Z An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. DGSX Golabi-Rosen syndrome DOID:0060248 Golabi-Rosen syndrome MSH:C537340 NT MGI. OMIM:300209 OMIM:312870 ORDO:373 SGB syndrome SNOMEDCT_US_2015_03_01:439143004 Sara Angers syndrome Simpson dysmorphia syndrome UMLS_CUI:C0796154 X-linked dysplasia gigantism syndrome bulldog syndrome disease_ontology emitraka An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract scoliosis 2015-01-29T15:44:16Z A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. DOID:0060249 HP:0002650 ICD10CM:M41 ICD10CM:M41.9 MSH:D012600 NCI:C78603 NT MGI add. SNOMEDCT:20944008 SNOMEDCT:298382003 SNOMEDCT_US_2015_03_01:298382003 SNOMEDCT_US_2015_03_01:36773001 UMLS_CUI:C0036439 disease_ontology emitraka A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. url:http://en.wikipedia.org/wiki/Scoliosis url:http://ghr.nlm.nih.gov/glossary=scoliosis url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 idiopathic scoliosis 2015-01-29T15:52:18Z A scoliosis with no known cause. DOID:0060250 NT MGI. OMIM:181800 OMIM:607354 OMIM:608765 OMIM:612238 OMIM:612239 disease_ontology emitraka A scoliosis with no known cause. url:http://en.wikipedia.org/wiki/Scoliosis sclerosteosis 2015-01-29T16:02:45Z A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. DOID:0060251 MSH:C537525 NT MGI. OMIM:269500 OMIM:614305 ORDO:3152 SNOMEDCT_US_2015_03_01:17568006 UMLS_CUI:C0265301 disease_ontology emitraka A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance url:http://www.ncbi.nlm.nih.gov/pubmed/11836356 sclerocornea 2015-01-29T16:16:57Z A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. DOID:0060252 HP:0000647 MSH:C565209 NT MGI. OMIM:181700 ORDO:91490 UMLS_CUI:C1853235 disease_ontology emitraka isolated congenital sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. url:http://en.wikipedia.org/wiki/Sclerocornea url:http://www.ncbi.nlm.nih.gov/pubmed/3994576 scapuloperoneal myopathy 2015-01-29T16:35:26Z A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. DOID:0060253 NT MGI. OMIM:181430 OMIM:300695 disease_ontology emitraka A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. url:http://www.ncbi.nlm.nih.gov/pubmed/28179901 Robinow syndrome 2015-01-29T16:42:52Z A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. DOID:0060254 ICD10CM:Q87.1 MSH:562492 NT MGI. OMIM:180700 ORDO:97360 Robinow dwarfism UMLS_CUI:C0265205 acral dysostosis with facial and genital abnormalities disease_ontology emitraka fetal face syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. url:http://en.wikipedia.org/wiki/Robinow_syndrome url:http://ghr.nlm.nih.gov/condition/robinow-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract rippling muscle disease 2015-01-29T16:51:43Z A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. DOID:0060255 NT MGI. OMIM:600332 OMIM:606072 ORDO:97238 UMLS_CUI:C1853698 disease_ontology emitraka A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease Dowling-Degos disease 2015-01-30T11:04:57Z A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. DOID:0060256 MSH:C562924 NT MGI. OMIM:179850 OMIM:615327 OMIM:615674 OMIM:615696 ORDO:79145 SNOMEDCT_US_2015_03_01:239133004 UMLS_CUI:C0406811 UMLS_CUI:C3714534 dark dot disease disease_ontology emitraka reticular pigment anomaly of flexures A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease dyschromatosis symmetrica hereditaria 2015-01-30T16:08:47Z A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. DOID:0060257 MSH:C535729 NT MGI. OMIM:127400 ORDO:41 SNOMEDCT_US_2015_03_01:239085000 UMLS_CUI:C0406775 disease_ontology emitraka reticulate acropigmentation of Dohi A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria url:http://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15 url:http://www.ncbi.nlm.nih.gov/pubmed/22974014 reticulate acropigmentation of Kitamura 2015-01-30T16:19:57Z A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. DOID:0060258 MSH:C562924 NT MGI. OMIM:615537 ORDO:178307 RAPK SNOMEDCT_US_2015_03_01:239133004 UMLS_CUI:C0406811 disease_ontology emitraka A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. url:http://www.ncbi.nlm.nih.gov/pubmed/22808308 renal-hepatic-pancreatic dysplasia 2015-01-30T16:33:37Z A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. DOID:0060259 Ivemark's syndrome OMIM:208540 OMIM:615415 ORDO:294415 disease_ontology emitraka A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia url:http://www.ncbi.nlm.nih.gov/pubmed/17605805 ptosis 2015-01-30T16:46:53Z An eye disease characterized by the drooping or falling of the upper or lower eyelid. DOID:0060260 HP:0000508 ICD10CM:H02.4 ICD10CM:H02.40 ICD10CM:H02.409 ICD9CM:374.3 ICD9CM:374.30 MSH:D001763 NCI:C27298 NT MGI add. SNOMEDCT_US_2015_03_01:11934000 SNOMEDCT_US_2015_03_01:155179008 SNOMEDCT_US_2015_03_01:193942002 SNOMEDCT_US_2015_03_01:193943007 SNOMEDCT_US_2015_03_01:193945000 SNOMEDCT_US_2015_03_01:204197004 UMLS_CUI:C0005745 blepharoptosis disease_ontology drooping eyelid emitraka An eye disease characterized by the drooping or falling of the upper or lower eyelid. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 congenital ptosis 2015-01-30T16:53:38Z A ptosis characterized by eyelid drop present at birth. DOID:0060261 HP:0007970 ICD10CM:Q10.0 ICD9CM:743.61 NCI:C27049 NT MGI. OMIM:178300 OMIM:300245 SNOMEDCT_US_2015_03_01:156901004 SNOMEDCT_US_2015_03_01:204197004 SNOMEDCT_US_2015_03_01:268163008 SNOMEDCT_US_2015_03_01:60938005 SNOMEDCT_US_2015_03_01:61989004 UMLS_CUI:C0266573 disease_ontology emitraka A ptosis characterized by eyelid drop present at birth. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 url:http://eyewiki.aao.org/Ptosis,_Congenital gallbladder disease 2015-02-02T15:48:08Z A gastrointestinal system disease that is located_in the gallbladder. DOID:0000000 DOID:0060262 ICD10CM:K82.9 ICD9CM:575.9 MSH:D005705 NCI:C34631 OMIM:609918 OMIM:609919 OMIM:611465 SNOMEDCT_US_2015_03_01:155807008 SNOMEDCT_US_2015_03_01:155826000 SNOMEDCT_US_2015_03_01:155829007 SNOMEDCT_US_2015_03_01:266535008 SNOMEDCT_US_2015_03_01:266542008 SNOMEDCT_US_2015_03_01:266543003 SNOMEDCT_US_2015_03_01:39621005 UMLS_CUI:C0016977 Xref MGI. disease_ontology emitraka A gastrointestinal system disease that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder_disease url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null porencephaly 2015-02-04T14:12:00Z DOID:0060263 HP:0002132 ICD10CM:Q04.6 MSH:D065708 NT MGI. OMIM:175780 OMIM:614483 ORDO:2940 SNOMEDCT_US_2015_03_01:204071008 SNOMEDCT_US_2015_03_01:38353004 SNOMEDCT_US_2015_03_01:698837003 UMLS_CUI:C0302892 UMLS_CUI:C1867983 UMLS_CUI:C3698507 disease_ontology emitraka pontocerebellar hypoplasia 2015-02-04T14:23:25Z DOID:0060264 MSH:C580383 NT MGI add. PCH SNOMEDCT_US_2015_03_01:45163000 UMLS_CUI:C0266468 disease_ontology emitraka pontocerebellar hypoplasia type 1A 2015-02-04T14:28:28Z DOID:0060265 NT MGI. OMIM:607596 ORDO:2254 disease_ontology emitraka pontocerebellar hypoplasia type 1B 2015-02-04T14:28:28Z DOID:0060266 NT MGI. OMIM:614678 ORDO:2254 disease_ontology emitraka pontocerebellar hypoplasia type 2A 2015-02-04T14:28:28Z DOID:0060267 MSH:C564738 NT MGI. OMIM:277470 ORDO:2524 UMLS_CUI:C1848526 disease_ontology emitraka pontocerebellar hypoplasia type 2B 2015-02-04T14:28:28Z DOID:0060268 MSH:C567325 NT MGI. OMIM:612389 ORDO:2524 UMLS_CUI:C2676466 disease_ontology emitraka pontocerebellar hypoplasia type 2C 2015-02-04T14:28:28Z DOID:0060269 MSH:C567324 NT MGI. OMIM:612390 ORDO:2524 UMLS_CUI:C2676465 disease_ontology emitraka pontocerebellar hypoplasia type 2D 2015-02-04T14:28:28Z DOID:0060270 ICD10CM:Q04.3 NT MGI. OMIM:613811 ORDO:2524 disease_ontology emitraka pontocerebellar hypoplasia type 2E 2015-02-04T14:28:28Z DOID:0060271 NT MGI. OMIM:615851 disease_ontology emitraka pontocerebellar hypoplasia type 3 2015-02-04T14:28:28Z DOID:0060272 MSH:C548072 NT MGI. OMIM:608027 ORDO:97249 UMLS_CUI:C1842687 disease_ontology emitraka pontocerebellar hypoplasia type 4 2015-02-04T14:28:28Z DOID:0060273 MSH:C536716 NT MGI. OMIM:225753 ORDO:166063 UMLS_CUI:C1856974 disease_ontology emitraka pontocerebellar hypoplasia type 5 2015-02-04T14:28:28Z DOID:0060274 MSH:C537745 NT MGI. OMIM:610204 ORDO:166068 UMLS_CUI:C1857762 disease_ontology emitraka pontocerebellar hypoplasia type 6 2015-02-04T14:28:28Z DOID:0060275 MSH:C548074 NT MGI. OMIM:611523 ORDO:166073 UMLS_CUI:C1969084 disease_ontology emitraka pontocerebellar hypoplasia type 7 2015-02-04T14:28:28Z DOID:0060276 ICD10CM:Q04.3 NT MGI. OMIM:614969 ORDO:284339 disease_ontology emitraka pontocerebellar hypoplasia type 8 2015-02-04T14:28:28Z DOID:0060277 ICD10CM:Q04.3 NT MGI. OMIM:614961 ORDO:324569 disease_ontology emitraka pontocerebellar hypoplasia type 9 2015-02-04T14:28:28Z DOID:0060278 ICD10CM:Q04.3 NT MGI. OMIM:615809 ORDO:369920 disease_ontology emitraka pontocerebellar hypoplasia type 10 2015-02-04T14:28:28Z DOID:0060279 NT MGI. OMIM:615803 ORDO:411493 disease_ontology emitraka primary pigmented nodular adrenocortical disease 2015-02-04T16:01:02Z An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. DOID:0060280 MSH:C566469 MSH:C566472 NT MGI. OMIM:610475 OMIM:610489 OMIM:614190 OMIM:615830 ORDO:189439 UMLS_CUI:C1864846 UMLS_CUI:C1864851 disease_ontology emitraka An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. url:http://www.ncbi.nlm.nih.gov/pubmed/2212318 photosensitive epilepsy 2015-02-04T16:15:55Z An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. DOID:0060281 ICD10CM:G40.8 NT MGI. OMIM:132100 OMIM:609572 OMIM:609573 ORDO:166409 disease_ontology emitraka photogenic epilepsy photoparoxysmal response An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy persistent hyperplastic primary vitreous 2015-02-04T16:21:06Z DOID:0060282 MSH:D054514 NT MGI. OMIM:221900 OMIM:611308 ORDO:91495 SNOMEDCT_US_2015_03_01:314270008 SNOMEDCT_US_2015_03_01:44647001 SNOMEDCT_US_2015_03_01:69927002 UMLS_CUI:C0266568 disease_ontology emitraka peeling skin syndrome 2015-02-04T16:28:52Z DOID:0060283 ICD10CM:Q80.8 NT MGI. OMIM:270300 OMIM:613088 ORDO:263543 disease_ontology emitraka paroxysmal nocturnal hemoglobinuria 2015-02-04T16:30:50Z DOID:0060284 HP:0004818 ICD10CM:D59.1 ICD10CM:D59.5 ICD10CM:D59.6 MSH:D006457 NCI:C61233 NT MGI. OMIM:300818 OMIM:615399 ORDO:447 SNOMEDCT_US_2015_03_01:127057004 SNOMEDCT_US_2015_03_01:1468004 SNOMEDCT_US_2015_03_01:154805009 SNOMEDCT_US_2015_03_01:191223003 SNOMEDCT_US_2015_03_01:191224009 SNOMEDCT_US_2015_03_01:191226006 SNOMEDCT_US_2015_03_01:1963002 SNOMEDCT_US_2015_03_01:234377003 SNOMEDCT_US_2015_03_01:267559009 UMLS_CUI:C0019050 UMLS_CUI:C0024790 UMLS_CUI:C0086774 disease_ontology emitraka parietal foramina 2015-02-04T16:36:15Z Caitlin marks DOID:0060285 HP:0002697 MSH:C566826 NT MGI. OMIM:168500 OMIM:609566 OMIM:609597 ORDO:60015 UMLS_CUI:C1868598 disease_ontology emitraka enlarged parietal foramina hereditary cranium bifidum combined oxidative phosphorylation deficiency 2015-02-04T16:56:52Z DOID:0060286 NT MGI. OMIM:300816 OMIM:609060 OMIM:610498 OMIM:610505 OMIM:610678 OMIM:611719 OMIM:613559 OMIM:614096 OMIM:614582 OMIM:614702 OMIM:614922 OMIM:614924 OMIM:614932 OMIM:614946 OMIM:614947 OMIM:615395 OMIM:615440 OMIM:615578 OMIM:615595 OMIM:615917 OMIM:615918 OMIM:616045 OMIM:616198 OMIM:616239 disease_ontology emitraka cornea plana 2015-02-04T17:04:28Z DOID:0060287 HP:0007720 ICD10CM:Q13.4 NT MGI. OMIM:121400 OMIM:217300 ORDO:53691 disease_ontology emitraka flat cornea omodysplasia 2015-02-05T09:58:47Z DOID:0060288 MSH:C537746 MSH:C567664 NT MGI. OMIM:164745 OMIM:258315 ORDO:2733 UMLS_CUI:C1850318 UMLS_CUI:C2750355 disease_ontology emitraka Ohdo syndrome 2015-02-05T10:03:42Z A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. DOID:0060289 MSH:C536232 NT MGI. OMIM:249620 OMIM:300895 ORDO:2728 Ohdo blepharophimosis syndrome SNOMEDCT_US_2015_03_01:412787009 UMLS_CUI:C0796094 disease_ontology emitraka A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple blepharophimosis-intellectual disability syndrome, SBBYS type 2015-02-05T10:07:12Z DOID:0060290 MSH:C536717 NT MGI. OMIM:603736 ORDO:3047 Ohdo syndrome, SBBYS Variant SBBYSS SNOMEDCT_US_2015_03_01:699298009 Say-Barber-Biesecker-Young-Simpson syndrome UMLS_CUI:C1863557 disease_ontology emitraka oculodentodigital dysplasia 2015-02-05T10:12:23Z A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. DOID:0060291 MSH:C563160 NT MGI. ODD syndrome OMIM:164200 OMIM:257850 ORDO:2710 SNOMEDCT_US_2015_03_01:31291009 SNOMEDCT_US_2015_03_01:38215007 UMLS_CUI:C0812437 disease_ontology emitraka A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. PMID:12021949 url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia X-linked chondrodysplasia punctata 2015-02-05T16:35:34Z DOID:0060292 ICD10CM:Q77.3 MSH:C002806 NT MGI. OMIM:302950 OMIM:302960 ORDO:35173 chondrodystrophia calcificans congenita disease_ontology emitraka autosomal dominant chondrodysplasia punctata 2015-02-05T16:49:46Z DOID:0060293 ICD10CM:Q77.3 NT MGI. OMIM:118650 OMIM:118651 OMIM:602497 ORDO:79344 disease_ontology emitraka cold-induced sweating syndrome 2015-02-06T16:10:07Z An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. Crisponi syndrome DOID:0060294 MSH:C536214 NT MGI. OMIM:242730 OMIM:610313 ORDO:157820 SNOMEDCT_US_2015_03_01:702363009 Sohar-Crisponi syndrome UMLS_CUI:C1832409 disease_ontology emitraka An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/ complement component 2 deficiency 2015-02-09T15:32:25Z DOID:0060295 ICD10CM:D84.1 NT MGI. OMIM:217000 ORDO:169147 disease_ontology emitraka congenital secretory chloride diarrhea 1 2015-02-09T16:42:50Z A secretory diarrhea caused_by mutation in the SLC26A3 gene. DOID:0060296 MSH:C536210 NT MGI. OMIM:214700 ORDO:53689 SNOMEDCT_US_2015_03_01:24412005 UMLS_CUI:C0267662 congenital chloride diarrhea finnish type congenital chloridorrhea disease_ontology emitraka A secretory diarrhea caused_by mutation in the SLC26A3 gene. OMIM:214700 complement component 4a deficiency 2015-02-09T15:32:25Z DOID:0060297 ICD10CM:D84.1 NT MGI. OMIM:614380 ORDO:169147 disease_ontology emitraka complement component 4b deficiency 2015-02-09T15:32:25Z DOID:0060298 ICD10CM:D84.1 NT MGI. OMIM:614379 ORDO:169147 disease_ontology emitraka complement component 6 deficiency 2015-02-09T15:32:25Z DOID:0060299 ICD10CM:D84.1 NT MGI. OMIM:612446 ORDO:169150 disease_ontology emitraka complement component 7 deficiency 2015-02-09T15:32:25Z DOID:0060300 ICD10CM:D84.1 NT MGI. OMIM:610102 ORDO:1695150 disease_ontology emitraka type I complement component 8 deficiency 2015-02-09T15:32:25Z DOID:0060301 ICD10CM:D84.1 NT MGI. OMIM:613790 ORDO:169150 disease_ontology emitraka type II complement component 8 deficiency 2015-02-09T15:32:25Z DOID:0060302 ICD10CM:D84.1 NT MGI. OMIM:613789 ORDO:169150 disease_ontology emitraka complement component 9 deficiency 2015-02-09T15:32:25Z DOID:0060303 ICD10CM:D84.1 NT MGI. OMIM:613825 ORDO:169150 disease_ontology emitraka dyschromatosis universalis hereditaria 2015-02-09T16:53:42Z A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. DOID:0060304 MSH:C535730 NT MGI. OMIM:127500 OMIM:612715 OMIM:615402 ORDO:241 UMLS_CUI:C2930995 disease_ontology emitraka A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria url:http://www.ncbi.nlm.nih.gov/pubmed/12372090 megalocornea 2015-02-10T12:29:54Z A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene. DOID:0060305 HP:0007660 MSH:C562829 NT MGI. OMIM:249300 OMIM:309300 ORDO:91489 SNOMEDCT_US_2015_03_01:204118005 SNOMEDCT_US_2015_03_01:204119002 SNOMEDCT_US_2015_03_01:268158009 SNOMEDCT_US_2015_03_01:388840007 SNOMEDCT_US_2015_03_01:39978004 UMLS_CUI:C0344530 anterior megalophthalmos congenital anterior megalophthalmia disease_ontology emitraka A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene. url:http://en.wikipedia.org/wiki/Megalocornea url:http://ghr.nlm.nih.gov/gene/CHRDL1 url:http://www.ncbi.nlm.nih.gov/pubmed/6849653 Meier-Gorlin syndrome 2015-02-10T12:40:39Z An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. DOID:0060306 MSH:C538012 NT MGI. OMIM:224690 OMIM:613800 OMIM:613803 OMIM:613804 OMIM:613805 ORDO:2554 SNOMEDCT_US_2015_03_01:703508009 UMLS_CUI:C1868684 disease_ontology ear-patella-short stature syndrome emitraka An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/14564153 autosomal dominant non-syndromic intellectual disability 2015-02-10T16:47:55Z A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. DOID:0060307 NT MGI. OMIM:156200 OMIM:612337 OMIM:612580 OMIM:612581 OMIM:612621 OMIM:613443 OMIM:613970 OMIM:614104 OMIM:614113 OMIM:614254 OMIM:614255 OMIM:614256 OMIM:614257 OMIM:614562 OMIM:614563 OMIM:614607 OMIM:614608 OMIM:614609 OMIM:615009 OMIM:615074 OMIM:615075 OMIM:615502 OMIM:615761 OMIM:615828 OMIM:615834 OMIM:615873 OMIM:615886 ORDO:178469 autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation disease_ontology emitraka A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/21124998 autosomal recessive non-syndromic intellectual disability 2015-02-11T10:32:11Z A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. DOID:0060308 NT MGI. OMIM:249500 OMIM:607417 OMIM:608443 OMIM:611090 OMIM:611091 OMIM:611092 OMIM:611093 OMIM:611094 OMIM:611095 OMIM:611096 OMIM:611097 OMIM:611107 OMIM:614020 OMIM:614208 OMIM:614249 OMIM:614286 OMIM:614329 OMIM:614333 OMIM:614339 OMIM:614340 OMIM:614341 OMIM:614342 OMIM:614343 OMIM:614344 OMIM:614345 OMIM:614346 OMIM:614347 OMIM:614499 OMIM:614562 OMIM:615493 OMIM:615516 OMIM:615541 OMIM:615599 OMIM:615637 OMIM:615802 OMIM:615817 OMIM:615942 ORDO:88616 autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation disease_ontology emitraka A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/21124998 syndromic X-linked intellectual disability 2015-02-11T16:14:46Z A syndromic intellectual characterized by an X-linked inheritance pattern. DOID:0060309 NT MGI. OMIM:300055 OMIM:300218 OMIM:300220 OMIM:300238 OMIM:300676 OMIM:300709 OMIM:300858 OMIM:300886 OMIM:304340 OMIM:309545 disease_ontology emitraka syndromic X-linked mental retardation A syndromic intellectual characterized by an X-linked inheritance pattern. url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability uvulitis 2015-02-16T13:26:27Z An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. DOID:0060310 ICD10CM:K12.2 MEDDRA:10051962 PRISM. acute uvulitis disease_ontology emitraka An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation url:http://www.ncbi.nlm.nih.gov/pubmed/8285973 adenoid hypertrophy 2015-02-16T13:35:56Z An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. DOID:0060311 ICD10CM:J35.2 ICD9CM:474.12 MEDDRA:10001229 PRISM. SNOMEDCT_US_2015_03_01:111591002 SNOMEDCT_US_2015_03_01:195795005 UMLS_CUI:C0149825 adenoidal hypertrophy disease_ontology emitraka enlarged adenoids An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html url:http://www.ncbi.nlm.nih.gov/pubmed/21126775 url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm angular cheilitis 2015-02-19T15:57:00Z A cheilitis characterized by inflammation of one or both of the corners of the mouth. DOID:0060312 ICD10CM:K13.0 MSH:D002613 NCI:C79545 PRISM. SNOMEDCT_US_2015_03_01:155664000 SNOMEDCT_US_2015_03_01:196557006 SNOMEDCT_US_2015_03_01:266495008 SNOMEDCT_US_2015_03_01:7847004 UMLS_CUI:C0007971 angular cheilosis angular stomatitis cheilosis commissural cheilitis disease_ontology emitraka A cheilitis characterized by inflammation of one or both of the corners of the mouth. url:http://en.wikipedia.org/wiki/Angular_cheilitis tracheomalacia 2015-02-20T16:02:03Z A tracheal disease characterized by flaccidity of the tracheal support cartilage. DOID:0060313 HP:0002779 ICD10CM:Q32.0 MSH:C557675 ORDO:95430 PRISM. SNOMEDCT_US_2015_03_01:95467005 UMLS_CUI:C0392109 congenital tracheomalacia disease_ontology emitraka A tracheal disease characterized by flaccidity of the tracheal support cartilage. url:http://en.wikipedia.org/wiki/Tracheomalacia persistent generalized lymphadenopathy 2015-02-23T14:33:26Z A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. DOID:0060314 HP:0008940 PGL PRISM. disease_ontology emitraka A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. ISBN:978-0-443-06839-3 url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy oral hairy leukoplakia 2015-02-23T15:55:53Z A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. DOID:0060315 ICD10CM:K13.3 MSH:D017733 NCI:C3722 SNOMEDCT_US_2015_03_01:196569003 SNOMEDCT_US_2015_03_01:414952002 SNOMEDCT_US_2015_03_01:58918007 UMLS_CUI:C0206186 disease_ontology emitraka hairy leukoplakia A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. url:http://en.wikipedia.org/wiki/Hairy_leukoplakia orofaciodigital syndrome I 2015-03-09T17:15:07Z An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene. DOID:0060316 ICD10CM:Q87.0 MSH:D009958 OMIM:311200 ORDO:2750 Papillon-Leage-Psaume syndrome SNOMEDCT_US_2015_03_01:1779005 SNOMEDCT_US_2015_03_01:239029009 SNOMEDCT_US_2015_03_01:403773005 SNOMEDCT_US_2015_03_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460 disease_ontology emitraka orofaciodigital syndrome 1 orofaciodigital syndrome type I An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 lung abscess 2015-02-23T16:58:49Z A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. DOID:0060317 ICD10CM:J85.2 ICD9CM:513.0 MSH:D008169 NCI:C99090 SNOMEDCT_US_2015_03_01:155618005 SNOMEDCT_US_2015_03_01:196113000 SNOMEDCT_US_2015_03_01:73452002 UMLS_CUI:C0024110 disease_ontology emitraka A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. url:http://en.wikipedia.org/wiki/Lung_abscess acute promyelocytic leukemia 2015-02-24T16:50:50Z APL An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. DOID:0060318 ICD10CM:C92.4 ICD10CM:C92.40 MSH:D015473 NCI:C3182 OMIM:612376 ORDO:520 SNOMEDCT_US_2015_03_01:110004001 SNOMEDCT_US_2015_03_01:28950004 UMLS_CUI:C0023487 acute myeloblastic leukemia type 3 acute myeloid leukemia M3 disease_ontology emitraka An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia cardiac arrest 2015-02-25T15:12:30Z A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. DOID:0060319 ICD10CM:I46 ICD9CM:427.5 MSH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2015_03_01:155372006 SNOMEDCT_US_2015_03_01:195085006 SNOMEDCT_US_2015_03_01:195090009 SNOMEDCT_US_2015_03_01:233926006 SNOMEDCT_US_2015_03_01:251189000 SNOMEDCT_US_2015_03_01:30298009 SNOMEDCT_US_2015_03_01:309810002 SNOMEDCT_US_2015_03_01:397829000 SNOMEDCT_US_2015_03_01:397912004 SNOMEDCT_US_2015_03_01:410429000 SNOMEDCT_US_2015_03_01:410430005 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology emitraka A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. ISBN:0-07-140235-7 url:http://en.wikipedia.org/wiki/Cardiac_arrest url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html inguinal hernia 2015-02-25T15:54:50Z An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. DOID:0060320 HP:0000023 ICD10CM:K40 ICD10CM:K40.90 ICD9CM:550 MSH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 SNOMEDCT_US_2015_03_01:155738001 SNOMEDCT_US_2015_03_01:155741005 SNOMEDCT_US_2015_03_01:155744002 SNOMEDCT_US_2015_03_01:196800008 SNOMEDCT_US_2015_03_01:196822001 SNOMEDCT_US_2015_03_01:196827007 SNOMEDCT_US_2015_03_01:196828002 SNOMEDCT_US_2015_03_01:261478001 SNOMEDCT_US_2015_03_01:261480007 SNOMEDCT_US_2015_03_01:266440002 SNOMEDCT_US_2015_03_01:266508004 SNOMEDCT_US_2015_03_01:266509007 SNOMEDCT_US_2015_03_01:266510002 SNOMEDCT_US_2015_03_01:286968003 SNOMEDCT_US_2015_03_01:286969006 SNOMEDCT_US_2015_03_01:396232000 SNOMEDCT_US_2015_03_01:44297005 SNOMEDCT_US_2015_03_01:65626001 SNOMEDCT_US_2015_03_01:73147001 UMLS_CUI:C0019294 UMLS_CUI:C0019295 UMLS_CUI:C0019296 disease_ontology emitraka An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. url:http://en.wikipedia.org/wiki/Inguinal_hernia umbilical hernia 2015-02-25T15:58:35Z A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. DOID:0060321 HP:0001537 ICD10CM:Q79.2 ICD9CM:756.72 MSH:D006554 NCI:C98997 SNOMEDCT_US_2015_03_01:157007005 SNOMEDCT_US_2015_03_01:18735004 SNOMEDCT_US_2015_03_01:196854005 SNOMEDCT_US_2015_03_01:196872004 SNOMEDCT_US_2015_03_01:205516007 SNOMEDCT_US_2015_03_01:271017007 SNOMEDCT_US_2015_03_01:396347007 SNOMEDCT_US_2015_03_01:49324006 SNOMEDCT_US_2015_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology emitraka A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. url:en.wikipedia.org/wiki/Umbilical_hernia url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 mastoiditis 2015-02-25T16:29:09Z A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. DOID:0060322 HP:0000265 ICD10CM:H70.9 ICD10CM:H70.90 ICD9CM:383.9 MSH:D008417 SNOMEDCT_US_2015_03_01:155230007 SNOMEDCT_US_2015_03_01:194309002 SNOMEDCT_US_2015_03_01:52404001 UMLS_CUI:C0024904 disease_ontology emitraka A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. url:http://en.wikipedia.org/wiki/Mastoiditis url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm breast abscess 2015-02-25T17:21:01Z A breast disease characterized by a collection of pus in the breast. DOID:0060323 disease_ontology emitraka A breast disease characterized by a collection of pus in the breast. url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess dental abscess 2015-02-25T17:25:03Z A tooth disease characterized by a localized collection of pus associated with a tooth. DOID:0060324 ICD10CM:K04.6 disease_ontology emitraka A tooth disease characterized by a localized collection of pus associated with a tooth. url:http://en.wikipedia.org/wiki/Dental_abscess cervical polyp 2015-02-25T17:33:54Z A cervix disease characterized by a benign polyp on the surface of the cervical canal. DOID:0060325 HP:0030159 ICD10CM:D26 ICD10CM:D26.9 ICD9CM:219 SNOMEDCT_US_2015_03_01:154628008 SNOMEDCT_US_2015_03_01:189107007 UMLS_CUI:C0153996 disease_ontology emitraka A cervix disease characterized by a benign polyp on the surface of the cervical canal. ISBN:3-7186-5857-7 url:http://en.wikipedia.org/wiki/Cervical_polyp myelomeningocele 2015-02-25T17:47:25Z A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. DOID:0060326 HP:0002475 ICD10CM:Q05 MSH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2015_03_01:156890007 SNOMEDCT_US_2015_03_01:203984008 SNOMEDCT_US_2015_03_01:203988006 SNOMEDCT_US_2015_03_01:203989003 SNOMEDCT_US_2015_03_01:203993009 SNOMEDCT_US_2015_03_01:203994003 SNOMEDCT_US_2015_03_01:203995002 SNOMEDCT_US_2015_03_01:203999008 SNOMEDCT_US_2015_03_01:268308005 SNOMEDCT_US_2015_03_01:414667000 SNOMEDCT_US_2015_03_01:7096005 SNOMEDCT_US_2015_03_01:82058009 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology emitraka A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm omphalocele 2015-02-25T17:54:05Z A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. DOID:0060327 HP:0001539 ICD10CM:Q79.2 ICD9CM:756.72 MSH:D006554 NCI:C98997 OMIM:164750 SNOMEDCT_US_2015_03_01:157007005 SNOMEDCT_US_2015_03_01:18735004 SNOMEDCT_US_2015_03_01:196854005 SNOMEDCT_US_2015_03_01:196872004 SNOMEDCT_US_2015_03_01:205516007 SNOMEDCT_US_2015_03_01:271017007 SNOMEDCT_US_2015_03_01:396347007 SNOMEDCT_US_2015_03_01:49324006 SNOMEDCT_US_2015_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology emitraka omphalocoele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. url:http://en.wikipedia.org/wiki/Omphalocele url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm anal fistula 2015-02-25T19:05:13Z An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. DOID:0060328 HP:0010447 ICD10CM:K60.3 disease_ontology elvira An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. url:http://en.wikipedia.org/wiki/Anal_fistula ectopic pregnancy 2015-02-25T19:27:50Z A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. DOID:0060329 ICD10CM:O00 ICD10CM:O00.9 ICD9CM:633 ICD9CM:633.9 MSH:D011271 NCI:C34945 SNOMEDCT_US_2015_03_01:156080003 SNOMEDCT_US_2015_03_01:156083001 SNOMEDCT_US_2015_03_01:198630007 SNOMEDCT_US_2015_03_01:34801009 UMLS_CUI:C0032987 disease_ontology eccyesis elvira A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. url:http://en.wikipedia.org/wiki/Ectopic_pregnancy url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm Rapp-Hodgkin syndrome 2015-03-12T13:47:30Z An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. DOID:0060330 OMIM:129400 ORDO:3022 Part of AEC spectrum. Research more. anhidrotic ectodermal dysplasia with cleft lip/palate disease_ontology emitraka An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. url:http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2015-03-12T16:04:59Z A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. DOID:0060331 ICD10CM:G71.3 MC5DN2 OMIM:614052 ORDO:1194 disease_ontology emitraka neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. url:http://omim.org/entry/614052 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2015-03-12T16:04:59Z A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. DOID:0060332 ICD10CM:E88.8 MC5DN3 OMIM:614053 ORDO:254913 disease_ontology emitraka A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. url:http://omim.org/entry/614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 2015-03-12T16:04:59Z A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. DOID:0060333 ICD10CM:E88.8 MC5DN4 OMIM:615228 ORDO:254913 disease_ontology emitraka A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. url:http://omim.org/entry/615228 transient neonatal diabetes mellitus 2015-03-12T16:59:58Z A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. DOID:0060334 ICD10CM:P70.2 OMIM:601410 OMIM:610374 OMIM:610582 ORDO:99886 disease_ontology emitraka A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. PMID:17349054 url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus autosomal dominant sideroblastic anemia 2015-04-16T10:44:34Z A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. DOID:0060335 OMIM:182170 disease_ontology emitraka A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. url:http://en.wikipedia.org/wiki/Sideroblastic_anemia 3-methylglutaconic aciduria 2015-04-16T10:50:48Z DOID:0060336 ICD10CM:E71.1 MSH:C579867 OMIM:250950 OMIM:250951 OMIM:258501 OMIM:610198 OMIM:614739 OMIM:616271 ORDO:289902 ORDO:67046 disease_ontology emitraka CEDNIK syndrome 2015-05-11T10:31:37Z An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. DOID:0060337 Flybase. MSH:C537943 OMIM:609528 ORDO:66631 UMLS_CUI:C1836033 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome disease_ontology emitraka An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. PMID:21073448 OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome parameningeal embryonal rhabdomyosarcoma 2015-05-14T14:32:27Z An embryonal rhabdomyosarcoma located in the parameningeal region. DOID:0060338 disease_ontology emitraka An embryonal rhabdomyosarcoma located in the parameningeal region. PMID:10717216 PMID:23021437 chronic atrial and intestinal dysrhythmia 2015-05-18T15:37:53Z A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). CAID syndrome DOID:0060339 OMIM:616201 disease_ontology emitraka CAID syndrome PMID:25282101 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). PMID:25282101 ciliopathy 2015-05-21T10:41:29Z A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. DOID:0060340 disease_ontology emitraka A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. PMID:18178628 PMID:21210154 url:http://en.wikipedia.org/wiki/Ciliopathy agnathia-otocephaly complex 2015-05-26T16:14:08Z A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. DOID:0060341 ICD10CM:Q18.2 OMIM:202650 ORDO:990 agnathia-holoprosencephaly-situs inversus syndrome disease_ontology dysgnathia complex agnathia-holoprosencephaly emitraka holoprosencephaly-agnathia otocephaly OMIM:202650 otocephaly OMIM:202650 dysgnathia complex agnathia-holoprosencephaly ORDO:990 agnathia-holoprosencephaly-situs inversus syndrome OMIM:202650 holoprosencephaly-agnathia A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. PMID:17438667 acromelic frontonasal dysostosis 2015-05-26T16:44:46Z A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. DOID:0060342 OMIM:603671 disease_ontology emitraka A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. PMID:15264282 glucocorticoid-induced osteoporosis 2015-05-27T17:07:43Z An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. DOID:0060343 disease_ontology emitraka steroid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. PMID:17566815 PMID:22870429 acrodermatitis chronica atrophicans 2015-05-28T14:45:56Z An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. DERMO:0002165 DOID:0060344 Herxheimer disease ICD9CM:701.8 SNOMEDCT_US_2015_03_01:201079006 SNOMEDCT_US_2015_03_01:201088002 UMLS_CUI:C0029805 disease_ontology emitraka primary diffuse atrophy An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans url:www.dermis.net/dermisroot/en/35111/diagnose.htm bacillary angiomatosis 2015-05-28T16:26:12Z A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. DOID:0060345 MSH:D016917 NCI:C3477 SNOMEDCT_US_2015_03_01:58213005 UMLS_CUI:C0085434 disease_ontology emitraka A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. PMID:9407154 url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis Native American myopathy 2015-06-01T17:47:31Z A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13. DOID:0060346 MSH:C538343 OMIM:255995 ORDO:168572 UMLS_CUI:C1850625 disease_ontology emitraka A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13. OMIM:255995 PMID:18553514 acrorenal syndrome 2015-06-04T14:51:42Z A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. DOID:0060347 MSH:C563159 OMIM:102520 OMIM:201310 UMLS_CUI:C3495490 disease_ontology emitraka A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. PMID:26019842 hypoparathyroidism-retardation-dysmorphism syndrome 2015-06-19T20:05:16Z An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. DOID:0060348 HRD syndrome MSH:C537157 OMIM:241410 ORDO:2323 Sanjad-Sakati syndrome UMLS_CUI:C1855840 disease_ontology elvira hypoparathyroidism with short stature, mental retardation and seizures An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. PMID:15645691 PMID:24339556 lymphedema, microcephaly and chorioretinopathy syndrome 2015-06-24T22:12:55Z A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. DOID:0060349 MSH:C537711 ORDO:2526 UMLS_CUI:C1835265 chorioretinal dysplasia-microcephaly-mental retardation syndrome disease_ontology elvira lymphedema and retinal folds with ficrocephaly and microphthalmos microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. PMID:10482868 PMID:11302131 PMID:5936364 adenine phosphoribosyltransferase deficiency 2,8-dihydroxyadenine urolithiasis 2015-07-02T16:06:22Z APRT deficiency An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. DOID:0060350 MSH:C538228 OMIM:614723 SNOMEDCT_US_2015_03_01:11852004 SNOMEDCT_US_2015_03_01:124274002 UMLS_CUI:C0268120 UMLS_CUI:C3665382 disease_ontology elvira An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. PMID:20150536 url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency mitochondrial complex III deficiency nuclear type 2 2015-07-14T16:24:56Z A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. DOID:0060351 MC3DN2 OMIM:615157 disease_ontology elvira A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. PMID:21278747 url:http://www.omim.org/entry/615157 Kleefstra syndrome 2015-07-14T16:49:09Z 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. DOID:0060352 MSH:C563043 OMIM:610253 ORDO:261494 UMLS_CUI:C0795833 disease_ontology elvira A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. PMID:15264279 PMID:21245904 url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome acrofacial dysostosis Cincinnati type 2015-07-15T16:37:59Z An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11. DOID:0060353 OMIM:616462 disease_ontology elvira An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11. PMID:25913037 Stormorken syndrome 2015-07-16T16:30:32Z A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern. DOID:0060354 MSH:C566108 OMIM:185070 ORDO:3204 UMLS_CUI:C1861451 disease_ontology elvira thrombocytopathy, asplenia and miosis A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern. PMID:24619930 PMID:25577287 url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome amyotrohpic lateral sclerosis type 22 2015-07-22T11:37:41Z ALS 22 An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35. DOID:0060355 OMIM:616208 ORDO:803 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 disease_ontology elvira An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35. url:http://omim.org/entry/616208 Vici syndrome 2015-08-19T16:22:27Z An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3. DOID:0060356 MSH:C535566 OMIM:242840 ORDO:1493 UMLS_CUI:C1855772 disease_ontology elvira immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3. PMID:21965116 PMID:23222957 url:https://en.wikipedia.org/wiki/Vici_syndrome chylomicron retention disease 2015-08-20T12:44:44Z A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1. Anderson disease CMRD DOID:0060357 ICD10CM:E78.3 MSH:C535460 OMIM:246700 ORDO:71 SNOMEDCT_US_2015_03_01:190792005 SNOMEDCT_US_2015_03_01:702364003 UMLS_CUI:C0795956 disease_ontology elvira A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1. PMID:10521380 PMID:20920215 PMID:3430059 PMID:3792776 url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease multiple acyl-CoA dehydrogenase deficiency 2015-08-20T16:23:47Z An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. DOID:0060358 ICD10CM:E71.313 MAD deficiency MADD MSH:D054069 NCI:C84907 NCI:C99102 OMIM:231680 ORDO:26791 SNOMEDCT_US_2015_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 disease_ontology electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency elvira glutaric acidemia type 2 glutaric aciduria type 2 An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. PMID:12815589 PMID:22580358 url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 Sakati-Nyhan syndrome 2015-09-03T14:23:46Z ACPS with leg hypoplasia An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. DOID:0060359 ICD10CM:Q87.0 MeSH:C537227 OMIM:101120 ORDO:3128 Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3 disease_ontology elvira An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome hereditary papulotranslucent acrokeratoderma 2015-09-03T14:36:52Z A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. DOID:0060360 MeSH:C566323 OMIM:101840 disease_ontology elvira A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. PMID:16409913 punctate palmoplantar keratoderma 2015-09-03T14:50:46Z A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. DOID:0060361 ORDO:307967 UMLS_CUI:C1274216 disease_ontology elvira punctate keratosis palmoplantaris punctate palmoplantar hyperkeratosis A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate punctate palmoplantar keratoderma type III 2015-09-03T15:31:19Z DOID:0060362 ICD10CM:Q82.8 MSH:C535653 OMIM:101850 ORDO:38 UMLS_CUI:C0545044 acrokeratoelastoidosis of Costa disease_ontology elvira punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 glycerol kinase deficiency 2015-09-17T15:45:20Z An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21. DOID:0060363 ICD10CM:E74.8 MSH:C538138 OMIM:307030 ORDO:408 UMLS_CUI:C0574108 disease_ontology elvira An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21. PMID:22427807 url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency Galloway-Mowat syndrome 2015-09-17T16:00:31Z An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. DOID:0060364 Galloway syndrome ICD10CM:Q04.3 MSH:C537548 OMIM:251300 ORDO:2065 UMLS_CUI:C0795949 disease_ontology elvira microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. PMID:20083416 PMID:26123727 url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome mandibulofacial dysostosis with alopecia 2015-09-17T16:20:00Z A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. DOID:0060365 MFDA OMIM:616367 disease_ontology elvira A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. PMID:25772936 Hennekam syndrome 2015-09-17T16:36:59Z A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. DOID:0060366 Hennekam lymphangiectasia-lymphedema syndrome ICD10CM:Q87.8 MSH:C537255 OMIM:235510 OMIM:616006 ORDO:2136 UMLS_CUI:C0340834 disease_ontology elvira lymphedem-lymphangiectasia-intellectual disability syndrome A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. PMID:14564208 PMID:24870712 PMID:2624276 url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome url:https://en.wikipedia.org/wiki/Hennekam_syndrome autosomal dominant Parkinson disease 1 2015-09-17T16:48:14Z A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1. DOID:0060367 OMIM:168601 ORDO:411601 PARK1 disease_ontology elvira A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1. PMID:22315721 url:http://www.omim.org/entry/168601 autosomal recessive juvenile Parkinson disease 2 2015-09-17T16:56:33Z A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27. DOID:0060368 OMIM:600116 ORDO:2828 PARK2 disease_ontology elvira A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27. PMID:22315721 early-onset Parkinson disease 6 2015-09-17T17:00:11Z A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12. DOID:0060369 OMIM:605909 ORDO:2828 PARK6 autosomal recessive early-onset Parkinson disease 6 disease_ontology elvira A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12. PMID:22315721 autosomal recessive early-onset Parkinson disease 7 2015-09-17T17:04:57Z A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. DOID:0060370 OMIM:606324 ORDO:2828 PARK7 disease_ontology elvira A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. PMID:22315721 autosomal dominant Parkinson disease 8 2015-09-17T17:07:35Z A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12. DOID:0060371 OMIM:607060 ORDO:411602 PARK8 disease_ontology elvira A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12. PMID:22315721 autosomal recessive early-onset Parkinson disease 15 2015-09-17T17:13:37Z A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3. DOID:0060372 OMIM:260300 ORDO:171695 PARK15 Parkinsonian-pyramidal syndrome disease_ontology elvira pallidopyramidal syndrome A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3. PMID:22315721 orofaciodigital syndrome III 2015-09-18T14:58:32Z DOID:0060373 ICD10CM:Q87.0 MSH:C557817 OMIM:258850 ORDO:2752 Sugarman syndrome UMLS_CUI:C0406726 disease_ontology elvira orofaciodigital syndrome IV 2015-09-18T15:00:19Z Baraitser-Burn syndrome DOID:0060374 ICD10CM:Q87.0 MSH:C537133 OFD4 OMIM:258860 ORDO:2753 UMLS_CUI:C0406727 disease_ontology elvira orofaciodigital syndrome V 2015-09-18T15:00:19Z DOID:0060375 ICD10CM:Q87.0 MSH:C557819 OFD5 OMIM:174300 ORDO:2919 UMLS_CUI:C1868118 disease_ontology elvira orofaciodigital syndrome Thurston type polydactyly, postaxial, with median cleft of upper lip Joubert syndrome with orofaciodigital defect 2015-09-18T15:00:19Z A Joubert syndrome subtype with orofaciodigital defect. DOID:0060376 ICD10CM:Q04.3 MSH:C536531 OFD6 OMIM:277170 ORDO:2754 UMLS_CUI:C2745997 Varadi syndrome Varadi-Papp syndrome disease_ontology elvira orofaciodigital syndrome VI A Joubert syndrome subtype with orofaciodigital defect. PMID:23716954 orofaciodigital syndrome VII 2015-09-18T15:00:19Z DOID:0060377 MSH:C563104 OFD7 OMIM:608518 ORDO:90649 Whelan syndrome disease_ontology elvira orofaciodigital syndrome VIII 2015-09-18T15:00:19Z DOID:0060378 Edwards syndrome ICD10CM:Q87.0 MSH:C557820 OFD8 OMIM:300484 ORDO:2755 UMLS_CUI:C0796101 disease_ontology elvira acrofacial dysostosis 2015-09-21T15:24:28Z DOID:0060379 disease_ontology elvira orofaciodigital syndrome X 2015-09-18T15:00:20Z DOID:0060380 ICD10CM:Q87.0 MSH:C563491 OFD10 OMIM:165590 ORDO:2756 disease_ontology elvira orofaciodigital syndrome with fibular aplasia orofaciodigital syndrome XI 2015-09-18T15:00:20Z DOID:0060381 ICD10CM:Q87.0 MSH:C557821 OMIM:612913 ORDO:141000 UMLS_CUI:C2752048 disease_ontology elvira orofaciodigital syndrome IX 2015-09-18T15:24:17Z DOID:0060382 ICD10CM:Q87.0 MSH:C557818 OFD9 OMIM:258865 ORDO:141007 UMLS_CUI:C0796102 disease_ontology elvira orofaciodigital syndrome with retinal abnormalities acrofacial dysostosis Rodriguez type 2015-09-21T15:30:41Z DOID:0060383 ICD10CM:Q75.4 MSH:C538183 OMIM:201170 ORDO:1788 UMLS_CUI:C1860119 acrofacial dysostosis, syndrome of Rodriguez disease_ontology elvira acrofacial dysostosis, Catania type 2015-09-21T15:34:09Z DOID:0060384 ICD10CM:Q75.4 MSH:C538182 OMIM:101805 ORDO:1786 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome UMLS_CUI:C2931762 disease_ontology elvira acrofacial dysostosis, Patagonia type 2015-09-21T15:38:31Z DOID:0060385 ICD10CM:Q75.4 MSH:C538185 OMIM:601829 ORDO:1787 UMLS_CUI:C1866168 disease_ontology elvira Chilblain lupus 2015-09-22T17:10:37Z DOID:0060386 ICD10CM:L93.2 MSH:C535924 OMIM:610448 OMIM:614415 ORDO:90280 UMLS_CUI:C0024145 disease_ontology elvira chondrodysplasia Blomstrand type 2015-09-24T16:23:12Z Blomstrand lethal chondrodysplasia DOID:0060387 ICD10CM:Q78.8 MSH:C537914 OMIM:205045 ORDO:50945 UMLS_CUI:C1859148 disease_ontology elvira chromosomal deletion syndrome 2015-09-28T15:48:41Z DOID:0060388 disease_ontology elvira chromosome 10q23 deletion syndrome 2015-09-28T15:50:18Z DOID:0060389 MSH:C567385 OMIM:612242 disease_ontology elvira distal 10q deletion syndrome 2015-09-28T16:08:42Z DOID:0060390 ICD10CM:Q93.5 MSH:C567182 OMIM:609625 ORDO:96148 chromosome 10q26 deletion syndrome disease_ontology distal monosomy 10q elvira monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome chromosome 13q14 deletion syndrome 2015-09-28T16:14:46Z DOID:0060391 ICD10CM:Q93.5 OMIM:613884 ORDO:1587 deletion 13q14 disease_ontology elvira chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome 2015-09-28T16:18:44Z DOID:0060392 OMIM:613457 ORDO:261120 disease_ontology elvira chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome 2015-09-28T16:21:07Z DOID:0060393 ICD10CM:Q93.5 OMIM:615656 ORDO:261183 UMLS_CUI:C3180937 disease_ontology elvira chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome 2015-09-28T16:23:21Z DOID:0060394 ICD10CM:Q93.5 MSH:C567439 OMIM:612001 ORDO:199318 disease_ontology elvira chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome 2015-09-28T16:25:55Z DOID:0060395 ICD10CM:Q93.5 MSH:C579849 OMIM:613406 ORDO:94065 disease_ontology elvira chromosome 15q25 deletion syndrome 2015-09-28T16:28:12Z DOID:0060396 OMIM:614294 disease_ontology elvira chromosome 15q26-qter deletion syndrome 15q26 deletion syndrome 2015-09-28T16:30:51Z DOID:0060397 Drayer syndrome ICD10CM:Q93.5 MSH:C567232 OMIM:612626 ORDO:1596 disease_ontology distal 15q deletion syndrome distal monosomy 15q elvira telomeric 15q deletion syndrome chromosome 16p11.2 deletion syndrome, 220kb 2015-09-28T16:35:34Z DOID:0060398 ICD10CM:Q93.5 OMIM:613444 ORDO:261222 disease_ontology distal 16p11.2 microdeletion syndrome elvira chromosome 16p12.1 deletion syndrome, 520kb 2015-09-28T16:36:57Z DOID:0060399 OMIM:136570 disease_ontology elvira chromosome 16p12.2-p11.2 deletion syndrome 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 2015-09-28T16:42:38Z DOID:0060400 ICD10CM:Q93.5 OMIM:613604 ORDO:261211 disease_ontology elvira chromosome 16q22 deletion syndrome 2015-09-28T16:46:03Z DOID:0060401 OMIM:614541 disease_ontology elvira chromosome 17p13.1 deletion syndrome 2015-09-28T16:49:53Z DOID:0060402 MSH:D054221 OMIM:613776 disease_ontology elvira chromosome 17q11.2 deletion syndrome, 1.4Mb 17q11 microdeletion syndrome 2015-09-28T16:52:05Z DOID:0060403 ICD10CM:Q85.0 NF1 microdeletion syndrome OMIM:613675 ORDO:97685 Van Asperen syndrome disease_ontology elvira neurofibromatosis type 1 microdeletion syndrome chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome 2015-09-28T16:55:38Z DOID:0060404 ICD10CM:Q93.5 OMIM:614527 ORDO:261265 disease_ontology elvira chromosome 17q23.1-q23.2 deletion syndrome 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome 2015-09-28T16:58:27Z DOID:0060405 ICD10CM:Q93.5 OMIM:613355 ORDO:261279 disease_ontology elvira chromosome 18p deletion syndrome 18p- syndrome 2015-09-28T17:01:47Z DOID:0060406 De Grouchy syndrome ICD10CM:Q93.5 OMIM:146390 ORDO:1598 UMLS_CUI:C0432442 disease_ontology elvira monosomy 18p chromosome 18q deletion syndrome 18q- syndrome 2015-09-28T17:05:53Z DOID:0060407 ICD10CM:Q93.5 MSH:C536580 OMIM:601808 ORDO:1600 deletion 18q disease_ontology elvira monosomy 18q chromosome 19q13.11 deletion syndrome 19q13.11 microdeletion syndrome 2015-09-28T17:09:44Z DOID:0060408 ICD10CM:Q93.5 OMIM:613026 ORDO:217346 UMLS_CUI:C2751651 disease_ontology elvira monosomy 19q13.11 chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome 2015-09-28T17:12:14Z DOID:0060409 ICD10CM:Q93.5 OMIM:613735 ORDO:401986 disease_ontology elvira chromosome 1p36 deletion syndrome 1p36 deletion syndrome 2015-09-28T17:14:10Z DOID:0060410 ICD10CM:Q93.5 MSH:C535362 OMIM:607872 ORDO:1606 UMLS_CUI:C1842870 deletion 1p36 disease_ontology elvira monosomy 1p36 subtelomeric 1p36 deletion chromosome 1q21.1 deletion syndrome 1q21.1 microdeletion syndrome 2015-09-28T17:17:38Z DOID:0060411 ICD10CM:Q93.5 OMIM:612474 ORDO:250989 disease_ontology elvira monosomy 1q21.1 chromosome 1q41-q42 deletion syndrome 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome 2015-09-28T17:24:43Z DOID:0060412 ICD10CM:Q93.5 OMIM:612530 ORDO:250999 disease_ontology elvira chromosome 22q11.2 deletion syndrome, distal 2015-09-28T17:28:28Z DOID:0060413 OMIM:611867 ORDO:261330 disease_ontology distal 22q11.2 microdeletion syndrome elvira chromosome 2p12-p11.2 deletion syndrome 2015-09-28T17:31:12Z DOID:0060414 OMIM:613564 disease_ontology elvira chromosome 2p16.1-p15 deletion syndrome 2015-09-28T17:32:44Z 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome DOID:0060415 ICD10CM:Q93.5 OMIM:612513 ORDO:261349 disease_ontology elvira chromosome 2q31.2 deletion syndrome 2015-09-28T17:36:55Z DOID:0060416 OMIM:612345 disease_ontology elvira 3p- syndrome 2015-09-28T17:38:32Z DOID:0060417 ICD10CM:Q93.5 OMIM:613792 ORDO:1620 chromosome 3pter-P25 deletion syndrome disease_ontology distal monosomy 3p elvira chromosome 3q13.31 deletion syndrome 2015-09-28T17:42:28Z 3q13 microdeletion syndrome DOID:0060418 ICD10CM:Q93.5 MSH:C536808 OMIM:615433 ORDO:1621 UMLS_CUI:C2931338 disease_ontology elvira monosomy 3q13 chromosome 3q29 microdeletion syndrome 2015-09-28T17:45:50Z 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3qter deletion DOID:0060419 MSH:C567184 OMIM:609425 ORDO:65286 disease_ontology elvira chromosome 4q21 deletion syndrome 2015-09-28T17:49:18Z 4q21 microdeletion syndrome DOID:0060420 OMIM:613509 ORDO:238750 disease_ontology elvira monosomy 4q21 chromosome 5q12 deletion syndrome 2015-09-28T17:52:47Z DOID:0060421 OMIM:615668 disease_ontology elvira chromosome 6pter-p24 deletion syndrome 2015-09-28T17:55:16Z 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome DOID:0060422 ICD10CM:Q93.5 OMIM:612582 ORDO:96125 disease_ontology distal monosomy 6p elvira chromosome 6q11-q14 deletion syndrome 2015-09-28T17:58:28Z DOID:0060423 OMIM:613544 disease_ontology elvira chromosome 6q24-q25 deletion syndrome 2015-09-28T17:59:36Z 6q25 microdeletion syndrome DOID:0060424 OMIM:612863 ORDO:251056 disease_ontology elvira monosomy 6q25 chromosome 8q21.11 deletion syndrome 2015-09-28T18:06:23Z 8q21.11 microdeletion syndrome DOID:0060425 ICD10CM:Q93.5 OMIM:614230 ORDO:284160 disease_ontology elvira chromosome 19p13.13 deletion syndrome 2015-09-29T15:26:36Z DOID:0060426 OMIM:613638 disease_ontology elvira chromosome Xp21 deletion syndrome 2015-09-29T16:13:28Z DOID:0060427 ICD10CM:Q99.8 OMIM:300679 ORDO:261476 Xp21 microdeletion syndrome complex glycerol kinase deficiency disease_ontology elvira monosomy Xp21 chromosome 2q32-q33 deletion syndrome 2015-10-01T15:37:11Z 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome DOID:0060428 Glass syndrome ICD10CM:Q93.5 OMIM:612313 ORDO:251019 disease_ontology elvira monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 chromosomal duplication syndrome 2015-10-02T15:19:23Z DOID:0060429 disease_ontology elvira chromosome 16p11.2 duplication syndrome 2015-10-02T15:19:40Z DOID:0060430 ICD10CM:Q92.3 OMIM:614671 ORDO:370079 disease_ontology elvira proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 chromosome 16p13.3 duplication syndrome 16p13.3 microduplication syndrome 2015-10-02T15:43:05Z DOID:0060431 ICD10CM:Q92.3 OMIM:613458 ORDO:96078 disease_ontology distal duplication 16p distal trisomy 16p elvira telomeric duplication 16p chromosome 17p13.3 duplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 2015-10-02T15:45:43Z DOID:0060432 ICD10CM:Q92.3 OMIM:613215 ORDO:217385 chromosome 17p13.3 centromeric duplication syndrome disease_ontology elvira trisomy 17p13.3 chromosome 17q12 duplication syndrome 17q12 microduplication syndrome 2015-10-02T15:49:05Z DOID:0060433 ICD10CM:Q92.3 OMIM:614526 ORDO:261272 disease_ontology elvira trisomy 17q12 chromosome 17q21.31 duplication syndrome 17q21.31 microduplication syndrome 2015-10-02T15:50:26Z DOID:0060434 ICD10CM:Q92.3 OMIM:613533 ORDO:217340 disease_ontology elvira trisomy 17q21.31 chromosome 1q21.1 duplication syndrome 1q21.1 microduplication syndrome 2015-10-02T16:58:42Z DOID:0060435 ICD10CM:Q92.3 OMIM:612475 ORDO:250994 disease_ontology elvira trisomy 1q21.1 chromosome 22q11.2 microduplication syndrome 2015-10-02T17:02:03Z 22q11.2 microduplication syndrome DOID:0060436 ICD10CM:Q92.3 OMIM:608363 ORDO:1727 disease_ontology duplication 22q11.2 elvira trisomy 22q11.2 chromosome 22q13 duplication syndrome 2015-10-02T17:11:03Z DOID:0060437 OMIM:615538 disease_ontology elvira Cole-Carpenter syndrome 2015-10-06T16:24:18Z An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. DOID:0060438 ICD10CM:Q78.0 MSH:C535963 OMIM:112240 OMIM:616294 ORDO:2050 UMLS_CUI:C1862178 disease_ontology elvira An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. PMID:10842295 lysinuric protein intolerance 2015-10-13T15:04:00Z An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. DOID:0060439 ICD10CM:E72.3 LPI MSH:C562687 OMIM:222700 ORDO:470 UMLS_CUI:C0268647 dibasic amino aciduria II disease_ontology elvira hyperdibasic aminoaciduria An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. PMID:1155480 url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance url:http://www.ncbi.nlm.nih.gov/books/NBK1361/ url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance epithelial and subepithelial dystrophy 2015-10-16T16:37:13Z DOID:0060440 disease_ontology elvira epithelial-stromal TGFBI dystrophy 2015-10-16T16:39:25Z DOID:0060441 disease_ontology elvira stromal dystrophy 2015-10-16T16:39:25Z DOID:0060442 disease_ontology elvira endothelial dystrophy 2015-10-16T16:39:25Z DOID:0060443 disease_ontology elvira granular corneal dystrophy type II 2015-10-16T16:44:27Z CGD2 DOID:0060444 ICD10CM:H18.5 MSH:C535474 OMIM:607541 ORDO:98963 UMLS_CUI:C1275685 avellino corneal dystrophy combined granular-lattice corneal dystrophy disease_ontology elvira granular corneal dystrophy type 2 congenital stromal corneal dystrophy 2015-10-16T17:09:23Z CSCD DOID:0060445 ICD10CM:H18.5 MSH:C566452 OMIM:610048 ORDO:101068 congenital hereditary stromal dystrophy disease_ontology elvira X-linked endothelial corneal dystrophy 2015-10-16T17:13:34Z DOID:0060446 ICD10CM:H18.5 MSH:C567587 OMIM:300779 ORDO:293621 XECD disease_ontology elvira epithelial basement membrane dystrophy 2015-10-16T17:17:01Z Cogan corneal dystrophy DOID:0060447 EBMD ICD10CM:H18.5 MSH:C535477 OMIM:121820 ORDO:98956 disease_ontology elvira microcystic corneal dystrophy Fleck corneal dystrophy 2015-10-16T17:20:34Z DOID:0060448 FCD Francois-Neetens speckled corneal dystrophy ICD10CM:H18.5 MSH:C563256 OMIM:121850 ORDO:98970 UMLS_CUI:C1562113 disease_ontology elvira gelatinous drop-like corneal dystrophy 2015-10-16T17:26:37Z DOID:0060449 GDCD ICD10CM:H18.5 MSH:C535480 OMIM:204870 ORDO:98957 UMLS_CUI:C0339273 corneal amyloidosis disease_ontology elvira primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea Lisch epithelial corneal dystrophy 2015-10-16T17:42:58Z DOID:0060450 ICD10CM:H18.5 LECD MSH:C567588 OMIM:300778 ORDO:98955 band-shaped and whorled microcystic disease_ontology elvira Meesmann corneal dystrophy 2015-10-16T17:45:27Z DOID:0060451 ICD10CM:H18.5 MECD MSH:D053559 OMIM:122100 ORDO:98954 Stocker-Holt dystrophy UMLS_CUI:C0339277 disease_ontology elvira juvenile hereditary epithelial dystrophy posterior amorphous corneal dystrophy 2015-10-16T17:48:04Z DOID:0060452 ICD10CM:H18.5 MSH:C567546 OMIM:612868 ORDO:98971 PACD disease_ontology elvira Reis-Bucklers corneal dystrophy 2015-10-16T17:51:03Z DOID:0060453 ICD10CM:H18.5 MSH:C535476 OMIM:608470 ORDO:98961 RBCD UMLS_CUI:C0339278 anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I disease_ontology elvira geographic corneal dystrophy granular corneal dystrophy type III subepithelial mucinous corneal dystrophy 2015-10-16T17:55:14Z DOID:0060454 ICD10CM:H18.5 MSH:C567547 OMIM:612867 ORDO:98959 SMCD disease_ontology elvira Thiel-Behnke corneal dystrophy 2015-10-16T17:57:16Z DOID:0060455 ICD10CM:H18.5 MSH:C535942 OMIM:602082 ORDO:98960 TBCD UMLS_CUI:C1562894 Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II disease_ontology elvira Schnyder corneal dystrophy 2015-10-16T18:01:14Z DOID:0060456 ICD10CM:H18.5 MSH:C535475 OMIM:121800 ORDO:98967 SCCD Schnyder crystalline corneal dystrophy UMLS_CUI:C0271287 corneal dystrophy crystalline of Schnyder crystalline stromal dystrophy disease_ontology elvira hereditary crystalline stromal dystrophy of Schnyder posterior polymorphous corneal dystrophy 2015-10-16T18:05:26Z DOID:0060457 ICD10CM:H18.5 MSH:C562745 OMIM:122000 OMIM:609140 OMIM:609141 ORDO:98973 PPCD Schlichting dystrophy disease_ontology elvira hereditary polymorphus posterior corneal dystrophy chromosome 2q31.1 duplication syndrome 2015-10-19T14:42:34Z DOID:0060458 OMIM:613681 disease_ontology elvira chromosome 3q29 microduplication syndrome 2015-10-19T14:45:49Z 3q29 microduplication DOID:0060459 ICD10CM:Q92.3 MSH:C567626 OMIM:611936 ORDO:251038 disease_ontology elvira trisomy 3q29 chromosome 5p13 duplication syndrome 2015-10-19T15:25:26Z 5p13 microduplication syndrome DOID:0060460 ICD10CM:Q92.3 OMIM:613174 ORDO:329802 disease_ontology elvira trisomy 5p13 chromosome Xp11.23-p11.22 duplication syndrome 2015-10-19T15:29:51Z DOID:0060461 ICD10CM:Q99.8 OMIM:300801 ORDO:217377 disease_ontology elvira microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 Desbuquois dysplasia 2015-11-02T16:22:42Z An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. DOID:0060462 Desbuquois syndrome ICD10CM:Q78.8 MSH:C535943 OMIM:251450 OMIM:615777 ORDO:1425 UMLS_CUI:C0432242 disease_ontology elvira micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. PMID:19853239 PMID:21037275 NUT midline carcinoma 2015-11-04T14:54:36Z A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. DOID:0060463 NCI:C45716 UMLS_CUI:C1707291 disease_ontology elvira nuclear protein in testis midline carcinoma A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. PMID:21221870 PMID:25685583 PMID:26378054 PMID:26402248 url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma url:https://omim.org/entry/608749 url:https://omim.org/entry/608963 Feingold syndrome 2015-11-04T16:11:58Z An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. DOID:0060464 FGLDS ICD10CM:Q87.8 MODED syndrome MSH:C537734 ODED syndrome OMIM:164280 OMIM:614326 ORDO:1305 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum disease_ontology elvira microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. PMID:14518066 PMID:16906565 url:http://ghr.nlm.nih.gov/condition/feingold-syndrome url:https://en.wikipedia.org/wiki/Feingold_syndrome fibrochondrogenesis 2015-11-04T16:24:41Z DOID:0060465 ICD10CM:Q77.7 MSH:C562524 OMIM:228520 OMIM:614524 ORDO:2021 UMLS_CUI:C0265282 disease_ontology elvira gingival fibromatosis 2015-11-04T16:47:21Z A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. DOID:0060466 ICD10CM:K06.1 MSH:D005351 OMIM:135300 OMIM:605544 OMIM:609955 OMIM:611010 ORDO:2024 UMLS_CUI:C0399440 disease_ontology elvira hereditary gingival fibromatosis hereditary gingival hyperplasia A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. PMID:11868160 PMID:17385395 humeroradial synostosis 2015-11-11T21:29:39Z DOID:0060467 ICD10CM:Q74.0 OMIM:143050 OMIM:236400 ORDO:3265 UMLS_CUI:C0431800 disease_ontology elvira humero-radial fusion Holt-Oram syndrome 2015-11-17T16:06:23Z An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. DOID:0060468 ICD10CM:Q87.2 MSH:C535326 OMIM:142900 ORDO:392 UMLS_CUI:C0265264 atrio-digital syndrome atriodigital dysplasia disease_ontology elvira heart-hand syndrome An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. PMID:12223419 PMID:12436037 url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome Miller-Dieker lissencephaly syndrome 2015-11-17T16:22:00Z A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. DOID:0060469 ICD10CM:Q04.3 MDS Miller-Dieker syndrome OMIM:247200 ORDO:531 UMLS:C0265219 disease_ontology elvira A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. PMID:21239872 PMID:9473821 url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome salt and pepper syndrome 2015-11-17T16:40:23Z An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. DOID:0060470 ORDO:370938 disease_ontology elvira salt & pepper syndrome salt-and-pepper syndrome An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. PMID:24026681 fetal valproate syndrome 2015-11-17T16:47:50Z A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. DOID:0060471 ICD10CM:Q86.8 MSH:C536525 OMIM:609442 ORDO:1906 UMLS_CUI:C0236026 disease_ontology elvira fetal valproic acid syndrome A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. PMID:17090909 PMID:25400349 Kindler syndrome 2015-11-17T16:54:49Z A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. DOID:0060472 MSH:C536321 OMIM:173650 ORDO:306539 disease_ontology elvira hereditary acrokeratotic poikiloderma of Kindler-Weary poikiloderma of Kindler A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. PMID:12668616 url:https://en.wikipedia.org/wiki/Kindler_syndrome Kabuki syndrome 2015-11-18T16:21:35Z A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. DOID:0060473 ICD10CM:Q87.0 KMS Kabuki make up syndrome MSH:C537705 Niikawa-Kuroki syndrome OMIM:147920 OMIM:300867 ORDO:2322 UMLS_CUI:C0796004 disease_ontology elvira A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. PMID:25281733 PMID:25972376 PMID:26512256 url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome url:https://en.wikipedia.org/wiki/Kabuki_syndrome Chuvash polycythemia 2015-11-18T16:42:50Z Chuvash erythromatosis Chuvash type polycythemia DOID:0060474 ICD10CM:D75.1 OMIM:263400 ORDO:238557 autosomal recessive benign erythrocytosis disease_ontology elvira childhood onset epileptic encephalopathy 2015-11-19T16:30:12Z An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. DOID:0060475 EEOC OMIM:615369 disease_ontology elvira An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. PMID:23708187 PMID:24207121 url:http://omim.org/entry/615369 Perlman syndrome 2015-11-20T16:04:30Z A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. DOID:0060476 ICD10CM:Q87.3 MSH:C536399 OMIM:267000 ORDO:2849 disease_ontology elvira nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. PMID:18780370 PMID:22306653 url:https://en.wikipedia.org/wiki/Perlman_syndrome Zika fever A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes. ICD10CM:A92.8 A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes. url: http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx url: https://en.wikipedia.org/wiki/Zika_fever Shwachman-Diamond syndrome A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. ICD10CM:D61.0 MSH:C537330 OMIM:260400 Shwachman syndrome Shwachman-Bodian-Diamond syndrome pancreatic insufficiency and bone marrow dysfunction A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. PMID:18356737 PMID:22201042 url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome left ventricular noncompaction An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. OMIM:604169 ORDO:54260 left ventricular hypertrabeculation An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. PMID:16567565 Goldberg-Shprintzen syndrome A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. Goldberg-Shprintzen megacolon syndrome ICD10CM:Q87.8 MSH:C537279 OMIM:609460 ORDO:66629 UMLS_CUI:C1836123 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome PMID:23427148 PMID:15883926 oculoauricular syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. ICD10CM:Q87.8 MSH:C567416 OMIM:612109 ORDO:157962 A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. PMID:25574057 PMID:18423520 MEDNIK syndrome A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. OMIM:609313 ORDO:171851 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. PMID:24754424 PMID:23423674 EAST syndrome A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. MSH:C557674 OMIM:612780 ORDO:199343 SeSAME syndrome UMLS_CUI:C2748572 epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. PMID:19289823 PMID:19420365 PMID:23471908 Mowat-Wilson syndrome A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. ICD10CM:Q43.1 MSH:C536990 OMIM:235730 ORDO:2152 UMLS_CUI:C1856113 Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. PMID:17958891 PMID:23466526 Perry syndrome OMIM:168605 MSH:C566822 ORDO:178509 parkinsonism with alveolar hypoventilation and mental depression A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. url:http://www.ncbi.nlm.nih.gov/books/NBK47027/ A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. Pitt-Hopkins syndrome ORDO:2896 MSH:C537403 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. ICD10CM:Q87.0 OMIM:610954 UMLS_CUI:C1970431 url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome PMID:26621827 PMID:728011 PMID:17436255 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome neoplastic disease A disease of cellular proliferation that results in an abnormal mass of tissue. DOID:0070001 disease_ontology true A disease of cellular proliferation that results in an abnormal mass of tissue. url:http://en.wikipedia.org/wiki/Neoplasm blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells. DOID:0070003 disease_ontology A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells. url:en.wikipedia.org/wiki/Blastoma myeloma A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body. DOID:0070004 disease_ontology A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body. url:http://www.merck.com/mmhe/sec14/ch175/ch175c.html#sec14-ch175-ch175c-328 muscular disease A musculoskeletal system disease that affects the muscles. DOID:0080000 disease_ontology A musculoskeletal system disease that affects the muscles. url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. DOID:0080001 DOID:1290 ICD10CM:M89.9 MSH:D001847 SNOMEDCT_US_2015_03_01:156814002 SNOMEDCT_US_2015_03_01:203524000 SNOMEDCT_US_2015_03_01:268126004 SNOMEDCT_US_2015_03_01:274145000 SNOMEDCT_US_2015_03_01:308147009 SNOMEDCT_US_2015_03_01:76069003 UMLS_CUI:C0005940 disease_ontology skeletal disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. url:http://en.wikipedia.org/wiki/Bone_disease url:http://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf autosomal dominant disease DOID:0080002 disease_ontology true autosomal recessive disease DOID:0080003 disease_ontology true bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone. DOID:0080005 disease_ontology A bone disease that results_in formation or resorption abnormalities located_in bone. url:http://en.wikipedia.org/wiki/Bone_remodeling bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. DOID:0080006 disease_ontology A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. url:http://en.wikipedia.org/wiki/Dysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx bone deterioration disease A bone structure disease that results_in change or damage of structure located_in bone. DOID:0080007 disease_ontology A bone structure disease that results_in change or damage of structure located_in bone. url:http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone. DOID:0080008 disease_ontology A bone disease that results_in an interruption of blood supply located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm X-linked dominant disease DOID:0080009 disease_ontology true bone structure disease A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. DOID:0080010 disease_ontology A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. url:http://en.wikipedia.org/wiki/Human_skeleton bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass. DOID:0080011 disease_ontology A bone remodeling disease that results in an abnormal decrease of bone density or mass. url:http://en.wikipedia.org/wiki/Bone_resorption url:http://www.ncbi.nlm.nih.gov/pubmed/11277085 X-linked recessive disease DOID:0080012 disease_ontology true mitochondrial disease DOID:0080013 disease_ontology true chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. DOID:0080014 disease_ontology A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. url:http://en.wikipedia.org/wiki/Chromosome_abnormality url:http://www.genome.gov/11508982#al-5 url:http://www.rarechromo.org/html/chromosomesanddisorders.asp physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. DOID:0080015 disease_ontology A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Congenital_disorder spina bifida DOID:0080016 disease_ontology olivopontocerebellar atrophy V DOID:0080017 OPCA type 5 OPCA with dementia and extrapyramidal signs disease_ontology true dysbaric osteonecrosis An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. Caisson disease of bone DOID:0080018 DON disease_ontology An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. url:http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx metaphyseal dysplasia An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. Bakwin-Krida syndrome DOID:0080019 OMIM:215050 Pyle's disease Pyle-Cohn syndrome disease_ontology An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. url:http://en.wikipedia.org/wiki/Metaphyseal_dysplasia url:http://www.healthline.com/galecontent/metaphyseal-dysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx Jansen's metaphyseal chondrodysplasia A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. DOID:0080020 Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia disease_ontology A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. url:http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia url:http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype Schmid metaphyseal chondrodysplasia A metaphyseal dysplasia that results_in dwarfism and bowed legs. DOID:0080021 Japanese type spondylometaphyseal dysplasia OMIM mapping confirmed by DO. [SN]. OMIM:156500 Schmid type metaphyseal dysplasia disease_ontology A metaphyseal dysplasia that results_in dwarfism and bowed legs. url:http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia url:http://www.cigna.com/healthinfo/nord960.html url:http://www.ncbi.nlm.nih.gov/omim/156500 McKusick type metaphyseal dysplasia A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair. Cartilage-Hair Hypoplasia DOID:0080022 disease_ontology A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair. url:http://children.webmd.com/mckusick-type-metaphyseal-chondrodysplasia url:http://www.cigna.com/healthinfo/nord636.html url:http://www.medterms.com/script/main/art.asp?articlekey=15730 url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McKusick%20Type%20Metaphyseal%20Chondrodysplasia Shwachman-Diamond type metaphyseal dysplasia DOID:0080023 disease_ontology Pyles dysplasia DOID:0080024 disease_ontology true spondyloepiphyseal dysplasia congenita DOID:0080025 disease_ontology true otospondylomegaepiphyseal dysplasia An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS DOID:0080026 NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OMIM mapping confirmed by DO. [SN]. OMIM:215150 disease_ontology An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm url:http://www.ncbi.nlm.nih.gov/omim/215150 spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. DOID:0080027 disease_ontology An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252 spondyloepimetaphyseal dysplasia, Strudwick type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). DOID:0080028 OMIM mapping confirmed by DO. [SN]. OMIM:184250 disease_ontology A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346 autosomal recessive spinocerebellar ataxia 16 2015-10-07T14:55:44Z DOID:0080029 OMIM:615768 disease_ontology lschriml spondyloepimetaphyseal dysplasia, Missouri type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. DOID:0080030 OMIM mapping confirmed by DO. [SN]. OMIM:602111 disease_ontology A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. url:http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx url:http://www.ncbi.nlm.nih.gov/omim/602111 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple fibrous dysplasia A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. DOID:0080031 disease_ontology A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. url:http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=a00083 url:http://www.fibrousdysplasia.org/ url:http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm craniodiaphyseal dysplasia An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. DOID:0080032 disease_ontology An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. url:http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513 craniometaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. DOID:0080033 OMIM:122860 OMIM:123000 OMIM:218300 OMIM:218400 OMIM:614099 OMIM:614378 ORDO:1522 Xref MGI. disease_ontology An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. url:http://children.webmd.com/craniometaphyseal-dysplasia url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia endosteal hyperostosis A hyperostosis of endosteal bone. DOID:0080034 disease_ontology true A hyperostosis of endosteal bone. url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx SOST-related sclerosing bone dysplasia A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. DOID:0080035 DOID:0080036 disease_ontology van Buchem disease A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia url:http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx url:http://www.healthline.com/galecontent/sclerosing-bone-dysplasias url:http://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785 url:http://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx url:http://www.ncbi.nlm.nih.gov/omim/269500 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152 Worth's syndrome A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. DOID:0080037 Worth syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus disease_ontology A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. url:http://en.wikipedia.org/wiki/Worth_syndrome url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx url:http://www.ncbi.nlm.nih.gov/omim/144750 pycnodysostosis An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. DOID:0080038 disease_ontology An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. url:http://en.wikipedia.org/wiki/Pycnodysostosis url:http://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx url:http://www.medicinenet.com/pycnodysostosis/article.htm url:http://www.ncbi.nlm.nih.gov/omim/265800 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=571&Disease_Disease_Search_diseaseGroup=Pycnodysostosis&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Pycnodysostosis&title=Pycnodysostosis&search=Disease_Search_Simple axial osteomalacia An osteosclerosis that results_in coarsening located_in trabecular bone. DOID:0080039 disease_ontology An osteosclerosis that results_in coarsening located_in trabecular bone. url:http://en.wikipedia.org/wiki/Axial_osteomalacia url:http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx url:http://www.ncbi.nlm.nih.gov/omim/109130 fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. Baker's disease DOID:0080040 disease_ontology A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/7559718 hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. DOID:0080041 disease_ontology An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Hypochondroplasia url:http://ghr.nlm.nih.gov/condition/hypochondroplasia url:http://www.healthline.com/galecontent/hypochondroplasia url:http://www.mcllr.com/sinaibody.cfm?id=1523 url:http://www.medterms.com/script/main/art.asp?articlekey=9068 url:http://www.ncbi.nlm.nih.gov/books/NBK1477/ url:http://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia autosomal recessive spinocerebellar ataxia 18 2015-10-07T14:55:44Z DOID:0080042 OMIM:616204 disease_ontology lschriml achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. DOID:0080043 disease_ontology An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. url:http://en.wikipedia.org/wiki/Achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm url:http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. DOID:0080044 disease_ontology An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. url:http://en.wikipedia.org/wiki/Hypochondrogenesis url:http://ghr.nlm.nih.gov/condition/hypochondrogenesis url:http://www.healthline.com/galecontent/hypochondrogenesis Kniest dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. DOID:0080045 disease_ontology An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. url:http://ghr.nlm.nih.gov/condition/kniest-dysplasia url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841 url:http://www.ksginfo.org/kniest.html Stickler syndrome DOID:0080046 OMIM mapping confirmed by DO. [SN]. OMIM:108300 OMIM:184840 OMIM:604841 disease_ontology pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. DOID:0080047 DOID:14800 OMIM mapping confirmed by DO. [SN]. OMIM:177170 PSEUDOACHONDROPLASIA SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC disease_ontology pseudoachondroplastic dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Pseudoachondroplasia url:http://ghr.nlm.nih.gov/condition/pseudoachondroplasia url:http://www.healthline.com/galecontent/pseudoachondroplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 url:http://www.wheelessonline.com/ortho/pseudoachondroplasia trichorhinophalangeal syndrome I A DOID:0080048 disease_ontology true A url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome url:http://ghr.nlm.nih.gov/gene/TRPS1 url:http://trpsa.org/trpsa_wp/ acromesomelic dysplasia An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. DOID:0080049 disease_ontology An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. url:http://www.cigna.com/healthinfo/nord1087.html url:http://www.questdiagnostics.com/kbase/nord/nord1087.htm url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia url:http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia acromesomelic dysplasia, Maroteaux type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. DOID:0080050 OMIM mapping confirmed by DO. [SN]. OMIM:602875 disease_ontology An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. pdf:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507 url:http://www.ncbi.nlm.nih.gov/omim/602875 acromesomelic dysplasia, Hunter-Thompson type An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. DOID:0080051 OMIM mapping confirmed by DO. [SN]. OMIM:201250 acromesomelic dwarfism disease_ontology An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. pdf:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506 url:http://www.ncbi.nlm.nih.gov/omim/201250 acromesomelic dysplasia, Grebe type An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. DOID:0080052 GREBE CHONDRODYSPLASIA OMIM:200700 disease_ontology An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. pdf:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098 Albright's hereditary osteodystrophy Albright hereditary osteodystrophy An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. DOID:0080053 OMIM:103580 disease_ontology pseudohypoparathyroidism type 1a An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. pdf:http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770 achondrogenesis type IA An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. DOID:0080054 OMIM mapping confirmed by DO. [SN]. OMIM:200600 achondrogenesis Houston-Harris type disease_ontology An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. url:http://emedicine.medscape.com/article/941176-overview url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1A url:http://www.healthline.com/galecontent/achondrogenesis achondrogenesis type IB An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. DOID:0080055 OMIM mapping confirmed by DO. [SN]. OMIM:600972 achondrogenesis Fraccaro type disease_ontology An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1B url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.ncbi.nlm.nih.gov/books/NBK1516/ achondrogenesis type II An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. DOID:0080056 OMIM mapping confirmed by DO. [SN]. OMIM:200610 disease_ontology An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_2 url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis autosomal recessive spinocerebellar ataxia 15 2015-10-07T14:55:44Z DOID:0080057 OMIM:615705 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 14 2015-10-07T14:55:44Z DOID:0080058 OMIM:615386 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 7 2015-10-07T14:55:44Z DOID:0080059 OMIM:609270 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 12 2015-10-07T14:55:44Z DOID:0080060 OMIM:614322 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 2 2015-10-07T14:55:44Z DOID:0080061 OMIM:213200 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 13 2015-10-07T14:55:44Z DOID:0080062 OMIM:614831 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 11 2015-10-07T14:55:44Z DOID:0080063 OMIM:614229 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 17 2015-10-07T14:55:44Z DOID:0080064 OMIM:616127 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 19 2015-10-07T14:55:44Z DOID:0080065 OMIM:616291 disease_ontology lschriml autosomal recessive spinocerebellar ataxia 20 2015-10-07T14:55:44Z DOID:0080066 OMIM:616354 disease_ontology lschriml Charcot-Marie-Tooth disease type 5 2015-10-08T16:55:50Z A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. DOID:0080067 OMIM:600361 disease_ontology hereditary motor and sensory neuropathy with pyramidal features lschriml A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. url:http://www.ncbi.nlm.nih.gov/pubmed/12601114 url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications Charcot-Marie-Tooth disease type 6 2015-10-08T16:55:50Z A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. DOID:0080068 OMIM:601152 OMIM:616505 disease_ontology hereditary motor and sensory neuropathy type 6 lschriml A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. url:http://www.ncbi.nlm.nih.gov/pubmed/26168012 url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications Charcot-Marie-Tooth disease type 7 2015-10-08T16:55:50Z A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa. DOID:0080069 disease_ontology lschriml A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa. url:http://www.ncbi.nlm.nih.gov/pubmed/25491489 inclusion-cell disease 2015-10-08T17:58:48Z DOID:0080070 I-cell disease OMIM:252500 disease_ontology lschriml mucolipidosis II pseudo-Hurler polydystrophy 2015-10-08T17:58:48Z DOID:0080071 OMIM:252600 OMIM:252605 disease_ontology lschriml mucolipidosis III neuronal intestinal dysplasia 2015-10-19T14:28:30Z DOID:0080072 OMIM:243180 OMIM:601223 disease_ontology lschriml spina bifida occulta 2015-10-19T14:35:47Z DOID:0080073 disease_ontology lschriml neural tube defect 2015-10-19T14:41:42Z DOID:0080074 OMIM:301410 OMIM:601634 disease_ontology lschriml Neu-Laxova syndrome 2 2015-10-19T14:47:01Z DOID:0080075 OMIM:616038 disease_ontology lschriml Neu-Laxova syndrome 1 2015-10-19T14:47:35Z DOID:0080076 OMIM:256520 disease_ontology lschriml hypophosphatemic nephrolithiasis/osteoporosis 1 2015-10-19T14:52:42Z DOID:0080077 OMIM:612286 disease_ontology lschriml hypophosphatemic nephrolithiasis/osteoporosis 2 2015-10-19T14:52:42Z DOID:0080078 OMIM:612287 disease_ontology lschriml nonsyndromic congenital nail disorder 1 2015-11-09T15:13:08Z DOID:0080079 OMIM:161050 disease_ontology lschriml twenty-nail dystrophy nonsyndromic congenital nail disorder 2 2015-11-09T15:18:20Z DOID:0080080 OMIM:149300 disease_ontology lschriml nonsyndromic congenital nail disorder 3 2015-11-09T15:18:20Z DOID:0080081 OMIM:151600 disease_ontology lschriml nonsyndromic congenital nail disorder 4 2015-11-09T15:18:20Z DOID:0080082 OMIM:206800 disease_ontology lschriml nonsyndromic congenital nail disorder 5 2015-11-09T15:18:20Z DOID:0080083 OMIM:164800 disease_ontology lschriml nonsyndromic congenital nail disorder 6 2015-11-09T15:18:20Z DOID:0080084 OMIM:107000 disease_ontology lschriml nonsyndromic congenital nail disorder 7 2015-11-09T15:18:20Z DOID:0080085 OMIM:605779 disease_ontology lschriml nonsyndromic congenital nail disorder 8 2015-11-09T15:18:20Z DOID:0080086 OMIM:607523 disease_ontology lschriml nonsyndromic congenital nail disorder 9 2015-11-09T15:18:20Z DOID:0080087 OMIM:614149 disease_ontology lschriml nonsyndromic congenital nail disorder 10 2015-11-09T15:18:20Z DOID:0080088 OMIM:614157 disease_ontology lschriml tubular aggregate myopathy 2015-11-10T16:53:39Z DOID:0080089 OMIM:160565 OMIM:615883 disease_ontology lschriml reducing body myopathy 2015-11-10T16:54:50Z DOID:0080090 OMIM:300717 OMIM:300718 disease_ontology lschriml spheroid body myopathy 2015-11-10T16:57:47Z DOID:0080091 OMIM:182920 disease_ontology lschriml myofibrillar myopathy 1 2015-11-10T16:59:22Z DOID:0080092 OMIM:601419 desminopathy disease_ontology lschriml myofibrillar myopathy 2 2015-11-10T16:59:22Z DOID:0080093 OMIM:608810 alpha-b crystallinopathy disease_ontology lschriml myofibrillar myopathy 3 2015-11-10T16:59:22Z DOID:0080094 OMIM:609200 disease_ontology lschriml myotilinopathy myofibrillar myopathy 4 2015-11-10T16:59:22Z DOID:0080095 OMIM:609452 disease_ontology lschriml zaspopathy myofibrillar myopathy 5 2015-11-10T16:59:22Z DOID:0080096 OMIM:609524 disease_ontology filaminopathy lschriml myofibrillar myopathy 6 2015-11-10T16:59:22Z BAG3-related myofibrillar myopathy DOID:0080097 OMIM:612954 disease_ontology lschriml myofibrillar myopathy 7 2015-11-10T16:59:22Z DOID:0080098 OMIM:613869 alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy disease_ontology lschriml myopathy, lactic acidosis, and sideroblastic anemia 2015-11-10T17:17:42Z DOID:0080099 OMIM:500011 OMIM:600462 OMIM:613561 disease_ontology lschriml congenital myopathy 2015-11-10T17:25:05Z DOID:0080100 OMIM:255300 disease_ontology lschriml Compton-North congenital myopathy 2015-11-10T17:27:15Z DOID:0080101 OMIM:612540 disease_ontology lschriml congenital fiber-type disproportion 2015-11-10T17:27:15Z DOID:0080102 OMIM:255310 OMIM:300580 disease_ontology lschriml cylindrical spirals myopathy 2015-11-10T17:27:15Z DOID:0080103 OMIM:160990 disease_ontology lschriml intestinal infectious disease An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites. DOID:100 DOID:10960 DOID:12509 DOID:5270 ICD10CM:A00-A09 ICD9CM:001-009.99 SNOMEDCT_US_2015_03_01:127322007 SNOMEDCT_US_2015_03_01:186086003 SNOMEDCT_US_2015_03_01:186171006 SNOMEDCT_US_2015_03_01:187266003 SNOMEDCT_US_2015_03_01:266071000 SNOMEDCT_US_2015_03_01:266172005 SNOMEDCT_US_2015_03_01:266180003 UMLS_CUI:C0178238 Updating outdated UMLS CUI. bacterial enteritis disease_ontology An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites. url:http://en.wikipedia.org/wiki/Intestine visual cortex disorder due to neoplasm DOID:10000 disease_ontology true sensorineural hearing loss DOID:10003 DOID:11053 DOID:12112 DOID:12114 High Frequency Hearing Loss High frequency deafness ICD10CM:H90.5 ICD10CM:H91.9 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MSH:D006313 MSH:D006316 MSH:D006319 NCI:C26739 NCI:C34662 NCI:C34663 OMIM mapping confirmed by DO. [LS]. OMIM:304400 Perceptive deafness [diagnos] Perceptive hearing loss Perceptive hearing loss or deafness SNOMEDCT_US_2015_03_01:155256000 SNOMEDCT_US_2015_03_01:194421002 SNOMEDCT_US_2015_03_01:194427003 SNOMEDCT_US_2015_03_01:232326009 SNOMEDCT_US_2015_03_01:267770004 SNOMEDCT_US_2015_03_01:60700002 SNOMEDCT_US_2015_03_01:68467004 Sensorineural Deafness Sensory hearing loss UMLS_CUI:C0018776 UMLS_CUI:C0018780 UMLS_CUI:C0018784 central hearing loss disease_ontology high-frequency hearing loss High Frequency Hearing Loss NCI2004_11_17:C34663 Perceptive hearing loss SNOMEDCT_2005_07_31:194421002 MTHICD9_2006:389.1 Perceptive hearing loss or deafness ICD9CM_2006:389.14 central hearing loss NCI2004_11_17:C26739 Sensorineural Deafness ICD9CM_2006:389.11 Sensory hearing loss Perceptive deafness [diagnos] SNOMEDCT_2005_07_31:267770004 High frequency deafness SNOMEDCT_2005_07_31:194421002 respiratory syncytial virus bronchiolitis A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. DOID:10006 DOID:10007 DOID:2941 acute bronchiolitis due to RSV capillary pneumonia disease_ontology true viral bronchiolitis MTHICD9_2006:466.11 acute bronchiolitis due to RSV A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. url:http://en.wikipedia.org/wiki/Bronchiolitis url:http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf labor complications DOID:1001 Labour complications disease_ontology true Labour complications SNOMEDCT_2005_07_31:267342003 thyroid lymphoma DOID:10011 NCI:C5265 UMLS_CUI:C1336753 disease_ontology metastatic malignant neoplasm to the thyroid DOID:10012 disease_ontology metastatic tumor to the Thyroid secondary malignant neoplasm of thyroid gland true NCI2004_11_17:C7509 metastatic tumor to the Thyroid SNOMEDCT_2005_07_31:94634005 secondary malignant neoplasm of thyroid gland polyglandular activity in multiple endocrine adenomatosis DOID:10013 disease_ontology true polyglandular dysfunction DOID:10015 disease_ontology true multiple endocrine neoplasia type 2B An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. DOID:10016 ICD10CM:E31.23 ICD9CM:258.03 MEN type IIB MEN2B MSH:D018814 Multiple endocrine neoplasia, type 3 NCI:C3227 OMIM mapping confirmed by DO. [SN]. OMIM:162300 ORDO:247709 SNOMEDCT_US_2015_03_01:61530001 UMLS_CUI:C0025269 Wagenmann-Froboese syndrome disease_ontology mucosal neuroma syndrome multiple endocrine neoplasia type 2b MEN type IIB NCI2004_11_17:C3227 An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html url:http://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract Multiple endocrine neoplasia, type 3 SNOMEDCT_2005_07_31:61530001 CSP2005:2009-6300 mucosal neuroma syndrome multiple endocrine neoplasia type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. DOID:10017 ICD10CM:E31.21 ICD9CM:258.01 MEN type I MSH:D018761 NCI:C3225 OMIM mapping confirmed by DO. [SN]. OMIM:131100 ORDO:652 SNOMEDCT_US_2015_03_01:190566000 SNOMEDCT_US_2015_03_01:30664006 UMLS_CUI:C0025267 Wermer syndrome Wermer's syndrome disease_ontology multiple endocrine neoplasia type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.ncbi.nlm.nih.gov/pubmed/25509899 url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm MTHICD9_2006:258.0 Wermer's syndrome MEN type I NCI2004_11_17:C3225 papilledema associated with increased intracranial pressure DOID:10018 disease_ontology true endometritis DOID:1002 MSH:D004716 NCI:C26764 SNOMEDCT_US_2015_03_01:155975003 SNOMEDCT_US_2015_03_01:198192000 SNOMEDCT_US_2015_03_01:266652001 SNOMEDCT_US_2015_03_01:266653006 SNOMEDCT_US_2015_03_01:78623009 UMLS_CUI:C0014179 disease_ontology ampulla of Vater cancer DOID:10020 ICD10CM:C24.1 ICD9CM:156.2 NCI:C3536 SNOMEDCT_US_2015_03_01:363417006 SNOMEDCT_US_2015_03_01:93668007 UMLS_CUI:C0153454 disease_ontology malignant tumour of ampulla of vater SNOMEDCT_2005_07_31:93668007 malignant tumour of ampulla of vater duodenum cancer A small intestine cancer that is located_in the beginning section of the small intestine. DOID:10021 DOID:6072 Duodenal cancer ICD10CM:C17.0 ICD9CM:152.0 MSH:D004379 NCI:C4803 NCI:C9328 SNOMEDCT_US_2015_03_01:154555009 SNOMEDCT_US_2015_03_01:254570009 SNOMEDCT_US_2015_03_01:269615000 SNOMEDCT_US_2015_03_01:363403002 UMLS_CUI:C0153426 UMLS_CUI:C0541912 cancer of duodenum disease_ontology duodenal neoplasm A small intestine cancer that is located_in the beginning section of the small intestine. url:http://en.wikipedia.org/wiki/Duodenal_cancer Duodenal cancer SNOMEDCT_2005_07_31:363403002 NCI2004_11_17:C4803 cancer of duodenum ampulla of vater neoplasm DOID:10022 NCI:C4443 SNOMEDCT_US_2015_03_01:126858004 UMLS_CUI:C0345916 disease_ontology tumor of the ampulla of vater NCI2004_11_17:C4443 tumor of the ampulla of vater migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. DOID:10024 DOID:10025 ICD10CM:G43.1 ICD10CM:G43.109 ICD9CM:346.0 MSH:D020325 OMIM:609179 OMIM:609670 SNOMEDCT_US_2015_03_01:155047002 SNOMEDCT_US_2015_03_01:4473006 UMLS_CUI:C0154723 Xref MGI. classic migraine disease_ontology A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 tabes dorsalis A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. DOID:10027 ICD10CM:A52.11 ICD9CM:094.0 MSH:D013606 NCI:C35057 Posterior spinal sclerosis SNOMEDCT_US_2015_03_01:154384001 SNOMEDCT_US_2015_03_01:186885003 SNOMEDCT_US_2015_03_01:266134000 SNOMEDCT_US_2015_03_01:266210001 SNOMEDCT_US_2015_03_01:2844004 SNOMEDCT_US_2015_03_01:315826004 SNOMEDCT_US_2015_03_01:316841006 SNOMEDCT_US_2015_03_01:51928006 Tabes dorsalis - neurosyphilis UMLS_CUI:C0039223 disease_ontology A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm MTHICD9_2006:094.0 Posterior spinal sclerosis SNOMEDCT_2005_07_31:186885003 Tabes dorsalis - neurosyphilis pelvic inflammatory disease DOID:1003 ICD10CM:N70-N77 ICD10CM:N73.9 ICD9CM:614-616.99 ICD9CM:614.9 Inflammatory disease of female pelvic organs and/or tissues MSH:D000292 NCI:C3889 PID SNOMEDCT_US_2015_03_01:155967009 SNOMEDCT_US_2015_03_01:155968004 SNOMEDCT_US_2015_03_01:155974004 SNOMEDCT_US_2015_03_01:155986001 SNOMEDCT_US_2015_03_01:198130006 SNOMEDCT_US_2015_03_01:198131005 SNOMEDCT_US_2015_03_01:198178006 SNOMEDCT_US_2015_03_01:198244005 SNOMEDCT_US_2015_03_01:198570007 SNOMEDCT_US_2015_03_01:266584000 SNOMEDCT_US_2015_03_01:266648001 SNOMEDCT_US_2015_03_01:266651008 SNOMEDCT_US_2015_03_01:37518008 UMLS_CUI:C0242172 disease_ontology female pelvic inflammatory disease Inflammatory disease of female pelvic organs and/or tissues SNOMEDCT_2005_07_31:198130006 SNOMEDCT_2005_07_31:155967009 female pelvic inflammatory disease MTHICD9_2006:614.9 PID interstitial emphysema DOID:10030 ICD10CM:J98.2 ICD9CM:518.1 NCI:C34571 SNOMEDCT_US_2015_03_01:11211003 SNOMEDCT_US_2015_03_01:390898003 SNOMEDCT_US_2015_03_01:77690003 UMLS_CUI:C1370824 disease_ontology compensatory emphysema DOID:10031 ICD10CM:J98.3 ICD9CM:518.2 SNOMEDCT_US_2015_03_01:33325001 UMLS_CUI:C0155918 disease_ontology hyperlucent lung DOID:10032 MSH:D019568 UMLS_CUI:C0524799 disease_ontology cycloplegia Ciliary muscle paresis Cycloplegic paralysis of accommodation DOID:10033 ICD10CM:H52.52 ICD9CM:367.51 Paresis of accommodation SNOMEDCT_US_2015_03_01:232141000 SNOMEDCT_US_2015_03_01:255335004 SNOMEDCT_US_2015_03_01:68158006 UMLS_CUI:C0235238 disease_ontology Cycloplegic paralysis of accommodation SNOMEDCT_2005_07_31:232141000 Ciliary muscle paresis SNOMEDCT_2005_07_31:68158006 ICD9CM_2006:367.51 Paresis of accommodation eye accommodation disease DOID:10034 ICD10CM:H52.5 ICD9CM:367.5 SNOMEDCT_US_2015_03_01:155137002 SNOMEDCT_US_2015_03_01:193631008 SNOMEDCT_US_2015_03_01:54552008 UMLS_CUI:C0152198 disease_ontology asymptomatic neurosyphilis A tertiary neurosyphilis that results_in mild meningitis. DOID:10035 ICD10CM:A52.2 ICD9CM:094.3 MSH:D009494 SNOMEDCT_US_2015_03_01:37754005 UMLS_CUI:C0153167 disease_ontology A tertiary neurosyphilis that results_in mild meningitis. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh old burn scar-related melanoma of skin DOID:10038 disease_ontology true late congenital syphilis A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. DOID:10039 DOID:10796 ICD10CM:A50.4 ICD10CM:A50.40 ICD10CM:A50.5 ICD10CM:A50.59 ICD9CM:090.4 ICD9CM:090.40 ICD9CM:090.5 MSH:D009494 SNOMEDCT_US_2015_03_01:186836008 SNOMEDCT_US_2015_03_01:186837004 SNOMEDCT_US_2015_03_01:186839001 SNOMEDCT_US_2015_03_01:187350002 SNOMEDCT_US_2015_03_01:4243004 SNOMEDCT_US_2015_03_01:82323002 UMLS_CUI:C0153132 UMLS_CUI:C0153136 disease_ontology juvenile neurosyphilis A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. url:http://en.wikipedia.org/wiki/Late_congenital_syphilis url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html malignant eyelid melanoma DOID:10040 NCI:C4358 SNOMEDCT_US_2015_03_01:231834005 UMLS_CUI:C0339116 disease_ontology dysplastic nevus syndrome DOID:10041 FAMM syndrome MSH:D004416 OMIM mapping confirmed by DO. [SN]. OMIM:155600 OMIM:155601 UMLS_CUI:C0205747 disease_ontology familial atypical multiple mole-melanoma FAMM syndrome NCI2004_11_17:C27264 regressing skin melanoma DOID:10042 disease_ontology regressing malignant melanoma of the skin true NCI2004_11_17:C7089 regressing malignant melanoma of the skin balloon cell malignant melanoma DOID:10044 NCI:C4227 SNOMEDCT_US_2015_03_01:39274007 SNOMEDCT_US_2015_03_01:403922007 UMLS_CUI:C0334426 disease_ontology malignant giant pigmented nevus melanoma DOID:10045 disease_ontology malignant melanoma in congenital melanocytic naevus skin melanoma in Giant Pigmented nevus true SNOMEDCT_2005_07_31:75931002 malignant melanoma in congenital melanocytic naevus NCI2004_11_17:C4235 skin melanoma in Giant Pigmented nevus nodular malignant melanoma A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. DOID:10047 NCI:C4225 SNOMEDCT_US_2015_03_01:2142002 SNOMEDCT_US_2015_03_01:254731001 UMLS_CUI:C0334424 disease_ontology nodular melanoma (morphologic abnormality) SNOMEDCT_2005_07_31:2142002 nodular melanoma (morphologic abnormality) A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. url:http://en.wikipedia.org/wiki/Nodular_melanoma url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ malignant junctional nevus melanoma DOID:10048 disease_ontology malignant melanoma in junctional nevus (morphologic abnormality) melanoma in Junctional nevus true SNOMEDCT_2005_07_31:915007 malignant melanoma in junctional nevus (morphologic abnormality) NCI2004_11_17:C4232 melanoma in Junctional nevus desmoplastic melanoma A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. DOID:10049 disease_ontology true A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. url:http://www.cancer.gov/dictionary/?CdrID=321367 endometrial disease DOID:1005 NCI:C3504 SNOMEDCT_US_2015_03_01:418632009 UMLS_CUI:C0151622 disease_ontology malignant skin blue nevus Blue nevus-Like melanoma DOID:10053 disease_ontology true Blue nevus-Like melanoma NCI2004_11_17:C4240 skin amelanotic melanoma DOID:10054 NCI:C4633 SNOMEDCT_US_2015_03_01:276751004 UMLS_CUI:C0349515 disease_ontology skin amelanotic malignant melanoma Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium DOID:10059 disease_ontology true syphilitic acoustic neuritis A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. DOID:10066 disease_ontology true A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. url:http://archotol.ama-assn.org/cgi/content/summary/40/4/261 subglottis neoplasm DOID:10069 NCI:C4426 SNOMEDCT_US_2015_03_01:126696001 Subglottic tumor UMLS_CUI:C0345746 disease_ontology NCI2004_11_17:C4426 Subglottic tumor larynx leiomyoma DOID:10070 NCI:C6027 UMLS_CUI:C1334370 disease_ontology larynx squamous papilloma DOID:10071 NCI:C7742 SNOMEDCT_US_2015_03_01:269637007 UMLS_CUI:C0240164 disease_ontology syphilitic meningitis DOID:10073 ICD9CM:094.2 MSH:C536775 SNOMEDCT_US_2015_03_01:14968007 SNOMEDCT_US_2015_03_01:186887006 SNOMEDCT_US_2015_03_01:301086002 UMLS_CUI:C0153166 disease_ontology hymenolepiasis A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. DOID:10074 Hymenolepis infectious disease ICD10CM:B71.0 ICD9CM:123.6 MSH:D006925 NCI:C84768 SNOMEDCT_US_2015_03_01:187153007 SNOMEDCT_US_2015_03_01:44917000 UMLS_CUI:C0020413 disease_ontology dwarf tapeworm infection A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. url:http://en.wikipedia.org/wiki/Hymenolepiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm Hymenolepis infectious disease MTHICD9_2006:123.6 diphyllobothriasis A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. DOID:10075 Diphyllobothrium infection ICD10CM:B70.0 ICD9CM:123.4 MSH:D004169 SNOMEDCT_US_2015_03_01:187151009 SNOMEDCT_US_2015_03_01:359799003 SNOMEDCT_US_2015_03_01:49047003 UMLS_CUI:C0012561 disease_ontology fish tapeworm Diphyllobothrium infection MTHICD9_2006:123.4 A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. url:http://en.wikipedia.org/wiki/Diphyllobothrium url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm cysticercosis A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. DOID:10078 DOID:10079 DOID:14424 ICD10CM:B69 ICD10CM:B69.9 ICD9CM:123.1 MSH:D003551 NCI:C34520 Pork tapeworm infection SNOMEDCT_US_2015_03_01:105684008 SNOMEDCT_US_2015_03_01:187527007 SNOMEDCT_US_2015_03_01:59051007 Tapeworm infection: [intestinal taenia solium] or [pork] UMLS_CUI:C0010678 disease_ontology intestinal taenia solium infection neurocysticercosis tenia solium infectious disease MTHICD9_2006:123.0 Pork tapeworm infection SNOMEDCT_2005_07_31:187147007 Tapeworm infection: [intestinal taenia solium] or [pork] SNOMEDCT_2005_07_31:266160004 intestinal taenia solium infection A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. url:http://en.wikipedia.org/wiki/Cysticercosis url:http://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm sparganosis A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. DOID:10080 ICD10CM:B70.1 ICD9CM:123.5 Infection by Sparganum MSH:D013031 NCI:C35030 SNOMEDCT_US_2015_03_01:187152002 SNOMEDCT_US_2015_03_01:31659000 Sparganosis [larval diphyllobothriasis] UMLS_CUI:C0037753 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. url:http://en.wikipedia.org/wiki/Sparganosis url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm ICD9CM_2006:123.5 Sparganosis [larval diphyllobothriasis] Infection by Sparganum MTHICD9_2006:123.5 syphilitic encephalitis DOID:10081 ICD9CM:094.81 SNOMEDCT_US_2015_03_01:192699001 SNOMEDCT_US_2015_03_01:192700000 SNOMEDCT_US_2015_03_01:26135000 Syphilis encephalitis UMLS_CUI:C0153168 disease_ontology SNOMEDCT_2005_07_31:192699001 Syphilis encephalitis gastric leiomyoma DOID:10087 NCI:C3876 SNOMEDCT_US_2015_03_01:276812001 UMLS_CUI:C0238440 disease_ontology leiomyoma of the stomach NCI2004_11_17:C3876 leiomyoma of the stomach intracranial abscess DOID:10095 ICD9CM:324.0 NCI:C34734 SNOMEDCT_US_2015_03_01:192738001 SNOMEDCT_US_2015_03_01:192746000 SNOMEDCT_US_2015_03_01:27614006 UMLS_CUI:C0021874 disease_ontology Congenital or acquired abnormality of vagina, with delivery DOID:10111 disease_ontology true sleeping sickness A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. African sleeping sickness African trypanosomiasis DOID:10112 ICD10CM:B56 ICD10CM:B56.9 ICD9CM:086.5 KEGG:05143 MSH:D014353 NCI:C84541 SNOMEDCT_US_2015_03_01:186818008 SNOMEDCT_US_2015_03_01:187512007 SNOMEDCT_US_2015_03_01:27031003 SNOMEDCT_US_2015_03_01:78940002 UMLS_CUI:C0041228 disease_ontology African sleeping sickness CSP2005:2214-6161 A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. url:http://en.wikipedia.org/wiki/African_trypanosomiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm url:http://www.who.int/mediacentre/factsheets/fs259/en/ African trypanosomiasis MTH:NOCODE trypanosomiasis A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. DOID:10113 ICD10CM:B57.2 ICD9CM:086 ICD9CM:086.9 MSH:D014352 SNOMEDCT_US_2015_03_01:154375001 SNOMEDCT_US_2015_03_01:186819000 SNOMEDCT_US_2015_03_01:266205000 SNOMEDCT_US_2015_03_01:78940002 UMLS_CUI:C0041227 disease_ontology A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. url:http://en.wikipedia.org/wiki/Trypanosomiasis Trypanosoma brucei rhodesiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. DOID:10114 East African trypanosomiasis Rhodesian sleeping sickness Rhodesian trypanosomiasis disease_ontology true trypanosoma rhodesiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm ICD9CM_2006:086.4 Rhodesian trypanosomiasis MTHICD9_2006:086.4 Rhodesian sleeping sickness Trypanosoma brucei gambiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. DOID:10116 Gambian Trypanosomiasis Gambian sleeping sickness West African trypanosomiasis disease_ontology true A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm Gambian Trypanosomiasis NCI2004_11_17:C35084 Gambian sleeping sickness MTHICD9_2006:086.3 eyelid degenerative disease DOID:10120 ICD9CM:374.50 SNOMEDCT_US_2015_03_01:1112003 SNOMEDCT_US_2015_03_01:193957009 UMLS_CUI:C0155209 disease_ontology degenerative disorder of eyelid and periocular area DOID:10121 disease_ontology true hyperpigmentation of eyelid DOID:10122 ICD10CM:H02.71 ICD9CM:374.52 MSH:C562400 OMIM mapping confirmed by DO. [SN]. OMIM:145100 SNOMEDCT_US_2015_03_01:41115008 UMLS_CUI:C0155211 disease_ontology dyspigmentation of eyelid pigmentation disease DOID:10123 ICD9CM:709.09 UMLS_CUI:C0375489 disease_ontology corneal disease DOID:10124 DOID:2284 ICD10CM:H18.9 ICD9CM:371.9 MSH:D003316 NCI:C26731 SNOMEDCT_US_2015_03_01:15250008 SNOMEDCT_US_2015_03_01:155160005 SNOMEDCT_US_2015_03_01:193794007 SNOMEDCT_US_2015_03_01:193856004 SNOMEDCT_US_2015_03_01:267733008 UMLS_CUI:C0010034 disease_ontology acute hydrops keratoconus DOID:10125 ICD9CM:371.62 Keratoconus, acute hydrops SNOMEDCT_US_2015_03_01:111523009 UMLS_CUI:C0339286 disease_ontology ICD9CM_2006:371.62 Keratoconus, acute hydrops keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. DOID:10126 ICD10CM:H18.6 ICD10CM:H18.60 ICD9CM:371.6 ICD9CM:371.60 MSH:D007640 NCI:C26806 OMIM:148300 OMIM:608586 OMIM:608932 OMIM:609271 OMIM:614622 OMIM:614623 OMIM:614628 OMIM:614629 ORDO:156071 SNOMEDCT_US_2015_03_01:155160005 SNOMEDCT_US_2015_03_01:193843006 SNOMEDCT_US_2015_03_01:193846003 SNOMEDCT_US_2015_03_01:267733008 SNOMEDCT_US_2015_03_01:65636009 UMLS_CUI:C0022578 Xref MGI. conical cornea disease_ontology A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. url:http://en.wikipedia.org/wiki/Keratoconus url:http://ghr.nlm.nih.gov/glossary=keratoconus cerebral artery occlusion DOID:10127 ICD9CM:434 ICD9CM:434.9 SNOMEDCT_US_2015_03_01:155400001 SNOMEDCT_US_2015_03_01:155403004 SNOMEDCT_US_2015_03_01:195188006 SNOMEDCT_US_2015_03_01:20059004 SNOMEDCT_US_2015_03_01:266255008 SNOMEDCT_US_2015_03_01:286956007 UMLS_CUI:C0028790 disease_ontology venous insufficiency A vein disease that is characterized by impaired flow of blood through the veins. DOID:10128 ICD9CM:459.81 MSH:D014689 SNOMEDCT_US_2015_03_01:20696009 UMLS_CUI:C0042485 disease_ontology peripheral venous insufficiency A vein disease that is characterized by impaired flow of blood through the veins. url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm SNOMEDCT_2005_07_31:20696009 peripheral venous insufficiency psychologic vaginismus DOID:10131 Functional vaginismus ICD10CM:F52.5 ICD9CM:306.51 MSH:D052065 NCI:C35113 Non-organic vaginismus Psychogenic Vaginismus SNOMEDCT_US_2015_03_01:154924008 SNOMEDCT_US_2015_03_01:192469003 SNOMEDCT_US_2015_03_01:268773000 SNOMEDCT_US_2015_03_01:71787009 UMLS_CUI:C0042266 disease_ontology Functional vaginismus MTHICD9_2006:306.51 Non-organic vaginismus SNOMEDCT_2005_07_31:192469003 NCI2004_11_17:C35113 Psychogenic Vaginismus psychosexual disorder DOID:10132 ICD9CM:302.79 UMLS_CUI:C0033951 disease_ontology xerophthalmia Conjunctival xerosis DOID:10138 ICD10CM:E50.7 ICD10CM:H04.12 ICD9CM:375.15 MSH:D014985 NCI:C34503 SNOMEDCT_US_2015_03_01:155167008 SNOMEDCT_US_2015_03_01:193887002 SNOMEDCT_US_2015_03_01:193980001 SNOMEDCT_US_2015_03_01:363677007 SNOMEDCT_US_2015_03_01:46152009 SNOMEDCT_US_2015_03_01:69316005 UMLS_CUI:C0043349 disease_ontology xerophthalmus Conjunctival xerosis ICD9CM_2006:372.53 CSP2005:1114-9931 xerophthalmus conjunctival degeneration DOID:10139 ICD10CM:H11.10 ICD9CM:372.50 SNOMEDCT_US_2015_03_01:193886006 SNOMEDCT_US_2015_03_01:40787005 UMLS_CUI:C0155160 disease_ontology dry eye syndrome DOID:10140 ICD10CM:H04.12 MSH:D015352 NCI:C34553 SNOMEDCT_US_2015_03_01:1249004 SNOMEDCT_US_2015_03_01:155182003 SNOMEDCT_US_2015_03_01:193980001 SNOMEDCT_US_2015_03_01:46152009 Tear film insufficiency UMLS_CUI:C0013238 disease_ontology SNOMEDCT_2005_07_31:193980001 Tear film insufficiency asthenopia Accommodative asthenopia (finding) Accommodative strain DOID:10141 ICD10CM:H53.14 MSH:D001248 SNOMEDCT_US_2015_03_01:193645002 SNOMEDCT_US_2015_03_01:46640001 SNOMEDCT_US_2015_03_01:70323002 UMLS_CUI:C0004095 disease_ontology Accommodative strain SNOMEDCT_2005_07_31:193645002 Accommodative asthenopia (finding) SNOMEDCT_2005_07_31:46640001 Chlamydia trachomatis peritonitis DOID:10142 disease_ontology true venereal disease of peritoneum due to Chlamydia trachomatis secondary malignant neoplasm to the thymus DOID:10144 disease_ontology metastatic tumor to the Thymus true NCI2004_11_17:C4903 metastatic tumor to the Thymus metastases to mediastinum DOID:10145 disease_ontology metastatic tumor to the mediastinum secondary malignant neoplasm of mediastinum true ICD9CM_2006:197.1 secondary malignant neoplasm of mediastinum NCI2004_11_17:C3578 metastatic tumor to the mediastinum thymus lymphoma DOID:10146 NCI:C6451 UMLS_CUI:C1336745 disease_ontology long bones of lower limb cancer A bone cancer that is manifested in the long bones of the lower limb. DOID:10149 ICD10CM:C40.2 ICD9CM:170.7 SNOMEDCT_US_2015_03_01:187959005 SNOMEDCT_US_2015_03_01:187963003 UMLS_CUI:C0153517 disease_ontology malignant neoplasm of long bones of leg SNOMEDCT_2005_07_31:187959005 malignant neoplasm of long bones of leg A bone cancer that is manifested in the long bones of the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm lower limb cancer A malignant neoplasm that is manifested in the lower limb. DOID:10150 cancer of lower limb disease_ontology malignant neoplasm of lower limb true ICD9CM_2006:195.5 malignant neoplasm of lower limb A malignant neoplasm that is manifested in the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm malignant neoplasm of short bones of lower limb DOID:10151 ICD10CM:C40.3 ICD9CM:170.8 SNOMEDCT_US_2015_03_01:187964009 SNOMEDCT_US_2015_03_01:187979002 SNOMEDCT_US_2015_03_01:269468002 SNOMEDCT_US_2015_03_01:94003005 UMLS_CUI:C0153518 disease_ontology malignant neoplasm of short bone of lower limb malignant neoplasm of short bones of leg SNOMEDCT_2005_07_31:187964009 malignant neoplasm of short bones of leg SNOMEDCT_2005_07_31:94003005 malignant neoplasm of short bone of lower limb Meckel's diverticulum cancer DOID:10152 ICD9CM:152.3 Meckel diverticulum cancer SNOMEDCT_US_2015_03_01:187752007 SNOMEDCT_US_2015_03_01:93890009 UMLS_CUI:C0153429 disease_ontology malignant neoplasm of Meckel's diverticulum SNOMEDCT_2005_07_31:93890009 malignant neoplasm of Meckel's diverticulum ileum cancer A small intestine cancer that is located_in the ileum. DOID:10153 ICD10CM:C17.2 ICD9CM:152.2 SNOMEDCT_US_2015_03_01:363405009 SNOMEDCT_US_2015_03_01:93832004 UMLS_CUI:C0153428 disease_ontology ileal neoplasm malignant neoplasm of ileum A small intestine cancer that is located_in the ileum. url:http://en.wikipedia.org/wiki/Ileum ICD9CM_2006:152.2 malignant neoplasm of ileum small intestine cancer An intestinal cancer that is located_in the small intestine. DOID:10154 ICD10CM:C17 ICD10CM:C17.9 ICD9CM:152.9 NCI:C7523 SNOMEDCT_US_2015_03_01:154555009 SNOMEDCT_US_2015_03_01:187755009 SNOMEDCT_US_2015_03_01:269615000 SNOMEDCT_US_2015_03_01:363509000 SNOMEDCT_US_2015_03_01:94048009 UMLS_CUI:C0153425 disease_ontology An intestinal cancer that is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine intestinal cancer A gastrointestinal system cancer that is located_in the intestine. DOID:10155 ICD10CM:C26.0 ICD9CM:159.0 MSH:D007414 NCI:C4572 SNOMEDCT_US_2015_03_01:187819006 SNOMEDCT_US_2015_03_01:190089002 SNOMEDCT_US_2015_03_01:363508008 SNOMEDCT_US_2015_03_01:93838000 UMLS_CUI:C0346627 disease_ontology malignant intestinal tumors malignant neoplasm of intestine NCI2004_11_17:C4572 malignant intestinal tumors A gastrointestinal system cancer that is located_in the intestine. url:http://en.wikipedia.org/wiki/Intestine SNOMEDCT_2005_07_31:93838000 malignant neoplasm of intestine ileal neoplasm DOID:10156 Ileal tumor MSH:D007078 NCI:C3130 SNOMEDCT_US_2015_03_01:126835002 SNOMEDCT_US_2015_03_01:254576003 UMLS_CUI:C0020876 disease_ontology tumor of ileum (disorder) Ileal tumor NCI2004_11_17:C3130 SNOMEDCT_2005_07_31:254576003 tumor of ileum (disorder) osteonecrosis An ischemic bone disease that results_in necrosis located_in bone. Avascular necrosis of bone DOID:10159 DOID:10160 DOID:10161 DOID:10162 DOID:10163 DOID:10164 DOID:4128 DOID:8380 DOID:86 ICD10CM:M87 ICD10CM:M87.9 ICD9CM:732.3 ICD9CM:733.41 ICD9CM:733.42 ICD9CM:733.43 ICD9CM:733.44 ICD9CM:733.49 MSH:D010020 NCI:C34404 NCI:C34841 NCI:C34880 NCI:C35226 NCI:C35517 SNOMEDCT_US_2015_03_01:156837008 SNOMEDCT_US_2015_03_01:17926002 SNOMEDCT_US_2015_03_01:203487006 SNOMEDCT_US_2015_03_01:240196003 SNOMEDCT_US_2015_03_01:264540002 SNOMEDCT_US_2015_03_01:29281007 SNOMEDCT_US_2015_03_01:34686004 SNOMEDCT_US_2015_03_01:397758007 SNOMEDCT_US_2015_03_01:43453000 SNOMEDCT_US_2015_03_01:62100001 SNOMEDCT_US_2015_03_01:83453001 SNOMEDCT_US_2015_03_01:86217007 UMLS_CUI:C0003977 UMLS_CUI:C0027543 UMLS_CUI:C0029445 UMLS_CUI:C0158442 UMLS_CUI:C0158449 UMLS_CUI:C0158450 UMLS_CUI:C0158451 UMLS_CUI:C0158452 UMLS_CUI:C0745048 bone necrosis disease_ontology CSP2005:2715-1650 bone necrosis An ischemic bone disease that results_in necrosis located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm Avascular necrosis of bone NCI2004_11_17:C34841 primary tuberculosis DOID:1016 disease_ontology true tuberculous myelitis DOID:10173 DOID:6356 Tuberculous abscess of spinal cord disease_ontology true tuberculoma of spinal cord ICD9CM_2006:013.5 Tuberculous abscess of spinal cord lacrimal passage granuloma DOID:10174 Granuloma of lacrimal passages Granuloma of lacrimal passages (disorder) ICD10CM:H04.81 ICD9CM:375.81 SNOMEDCT_US_2015_03_01:194001006 SNOMEDCT_US_2015_03_01:417563003 SNOMEDCT_US_2015_03_01:82836006 UMLS_CUI:C0155253 disease_ontology lacrimal passage granuloma (disorder) Granuloma of lacrimal passages ICD9CM_2006:375.81 SNOMEDCT_2005_07_31:194001006 lacrimal passage granuloma (disorder) Granuloma of lacrimal passages (disorder) SNOMEDCT_2005_07_31:82836006 optic papillitis DOID:10175 ICD10CM:H35.81 ICD10CM:H46.0 ICD10CM:H47.1 ICD10CM:H47.10 ICD10CM:H47.11 ICD9CM:362.83 ICD9CM:377.0 ICD9CM:377.00 ICD9CM:377.01 ICD9CM:377.31 MSH:D010211 NCI:C3307 SNOMEDCT_US_2015_03_01:111526001 SNOMEDCT_US_2015_03_01:155187009 SNOMEDCT_US_2015_03_01:193426002 SNOMEDCT_US_2015_03_01:194038006 SNOMEDCT_US_2015_03_01:194041002 SNOMEDCT_US_2015_03_01:248487006 SNOMEDCT_US_2015_03_01:3170006 SNOMEDCT_US_2015_03_01:423341008 SNOMEDCT_US_2015_03_01:423488006 SNOMEDCT_US_2015_03_01:6141006 SNOMEDCT_US_2015_03_01:73221001 UMLS_CUI:C0030353 UMLS_CUI:C0155288 UMLS_CUI:C0242420 UMLS_CUI:C0919308 disease_ontology papillitis CSP2005:2042-6609 papillitis neuroretinitis DOID:10176 Focal retinitis and retinochoroiditis, juxtapapillary ICD10CM:H30.9 Juxtapapillary focal retinitis AND retinochoroiditis (disorder) MSH:D012173 Papilloretinitis SNOMEDCT_US_2015_03_01:410471004 UMLS_CUI:C0154874 disease_ontology Juxtapapillary focal retinitis AND retinochoroiditis (disorder) SNOMEDCT_2005_07_31:46497009 Papilloretinitis SNOMEDCT_2005_07_31:410471004 Focal retinitis and retinochoroiditis, juxtapapillary ICD9CM_2006:363.05 malignant hypertensive renal disease DOID:10177 SNOMEDCT_US_2015_03_01:65443008 UMLS_CUI:C0155593 disease_ontology diabetic peripheral angiopathy DOID:10182 ICD9CM:250.7 SNOMEDCT_US_2015_03_01:127014009 SNOMEDCT_US_2015_03_01:190354007 SNOMEDCT_US_2015_03_01:190361006 SNOMEDCT_US_2015_03_01:267383000 SNOMEDCT_US_2015_03_01:267473003 SNOMEDCT_US_2015_03_01:982001 UMLS_CUI:C0011871 disease_ontology endobronchial lipoma DOID:10183 NCI:C5063 UMLS_CUI:C0852937 disease_ontology spindle cell lipoma A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. DOID:10184 NCI:C4254 SNOMEDCT_US_2015_03_01:27313007 SNOMEDCT_US_2015_03_01:404058008 UMLS_CUI:C0334474 disease_ontology spindle cell Lipoma spindle cell lipoma (disorder) spindle cell lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:27313007 spindle cell lipoma (morphologic abnormality) NCI2004_11_17:C4254 spindle cell Lipoma A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. url:http://en.wikipedia.org/wiki/Lipoma SNOMEDCT_2005_07_31:404058008 spindle cell lipoma (disorder) esophageal lipoma DOID:10187 Lipoma of esophagus NCI:C5701 UMLS_CUI:C1333455 disease_ontology Lipoma of esophagus NCI2004_11_17:C5701 skin lipoma Cutaneous Lipoma DOID:10188 DOID:10198 DOID:3943 ICD9CM:214.0 Lipoma of skin (disorder) Lipoma of skin and subcutaneous tissue of face Lipoma of skin and subcutaneous tissue of face (disorder) Lipoma of skin and subcutaneous tissue of face NOS (disorder) Lipomatous tumor of skin NCI:C4616 NCI:C5566 SNOMEDCT_US_2015_03_01:188989000 SNOMEDCT_US_2015_03_01:255187008 SNOMEDCT_US_2015_03_01:93159009 UMLS_CUI:C0153968 UMLS_CUI:C0347394 UMLS_CUI:C1333174 cutaneous lipomatous tumor disease_ontology lipoma of face Cutaneous Lipoma NCI2004_11_17:C4616 Lipoma of skin and subcutaneous tissue of face (disorder) SNOMEDCT_2005_07_31:93159009 Lipoma of skin (disorder) SNOMEDCT_2005_07_31:255187008 Lipoma of skin and subcutaneous tissue of face NOS (disorder) SNOMEDCT_2005_07_31:188989000 ICD9CM_2006:214.0 Lipoma of skin and subcutaneous tissue of face Lipomatous tumor of skin NCI2004_11_17:C5566 osteomyelitis A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. DOID:1018 DOID:1019 DOID:1020 DOID:10281 DOID:10282 DOID:10692 DOID:10860 DOID:1164 DOID:11788 DOID:11959 DOID:12011 DOID:13673 DOID:13674 DOID:13675 DOID:13678 DOID:13684 DOID:13737 DOID:14003 DOID:14100 DOID:14166 DOID:2249 DOID:2250 DOID:5858 DOID:9456 ICD9CM:730.01 ICD9CM:730.1 ICD9CM:730.10 ICD9CM:730.11 SNOMEDCT_US_2015_03_01:156791003 SNOMEDCT_US_2015_03_01:156800002 SNOMEDCT_US_2015_03_01:203181001 SNOMEDCT_US_2015_03_01:203183003 SNOMEDCT_US_2015_03_01:203205002 SNOMEDCT_US_2015_03_01:40970001 UMLS_CUI:C0008707 UMLS_CUI:C0158372 UMLS_CUI:C0158381 disease_ontology A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. url:http://en.wikipedia.org/wiki/Osteomyelitis url:http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx url:http://www.mayoclinic.com/health/osteomyelitis/DS00759 url:http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm liver lipoma DOID:10190 Lipoma of the Liver NCI:C5750 UMLS_CUI:C1333970 disease_ontology Lipoma of the Liver NCI2004_11_17:C5750 autosomal deletion syndrome DOID:10191 disease_ontology true pleomorphic lipoma A lipoma that is characterized by floret giant cells with overlapping nuclei. DOID:10192 MSH:D008067 NCI:C3703 Pleomorphic Lipoma Pleomorphic lipoma Pleomorphic lipoma (disorder) Pleomorphic lipoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:189783001 SNOMEDCT_US_2015_03_01:21396005 SNOMEDCT_US_2015_03_01:404059000 UMLS_CUI:C0205823 disease_ontology Pleomorphic lipoma SNOMEDCT_2005_07_31:189783001 A lipoma that is characterized by floret giant cells with overlapping nuclei. url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma Pleomorphic lipoma (disorder) SNOMEDCT_2005_07_31:404059000 Pleomorphic lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:21396005 NCI2004_11_17:C3703 Pleomorphic Lipoma classic type lipoma DOID:10193 NCI:C27530 UMLS_CUI:C1333059 disease_ontology kidney lipoma DOID:10194 Lipoma of kidney NCI:C5101 UMLS_CUI:C1335744 disease_ontology Lipoma of kidney NCI2004_11_17:C5101 pleural lipoma DOID:10195 Lipoma of Pleura NCI:C6644 UMLS_CUI:C1335434 disease_ontology Lipoma of Pleura NCI2004_11_17:C6644 breast lipoma DOID:10199 Lipoma of breast (disorder) NCI:C4647 SNOMEDCT_US_2015_03_01:276891009 UMLS_CUI:C0349565 breast Lipoma disease_ontology Lipoma of breast (disorder) SNOMEDCT_2005_07_31:276891009 NCI2004_11_17:C4647 breast Lipoma chest wall lipoma DOID:10200 Lipoma of the Chest Wall NCI:C6719 SNOMEDCT_US_2015_03_01:448270009 UMLS_CUI:C1332932 disease_ontology Lipoma of the Chest Wall NCI2004_11_17:C6719 gallbladder lipoma DOID:10201 Lipoma of the gallbladder NCI:C5835 UMLS_CUI:C1333747 disease_ontology Lipoma of the gallbladder NCI2004_11_17:C5835 lipoma of intrathoracic organ DOID:10202 Lipoma of intrathoracic organs (disorder) disease_ontology true Lipoma of intrathoracic organs (disorder) SNOMEDCT_2005_07_31:93158001 external auditory meatus lipoma DOID:10203 Lipoma of external auditory meatus (disorder) Lipoma of the External ear NCI:C4618 SNOMEDCT_US_2015_03_01:188988008 UMLS_CUI:C0347423 disease_ontology Lipoma of the External ear NCI2004_11_17:C4618 Lipoma of external auditory meatus (disorder) SNOMEDCT_2005_07_31:188988008 lipoma of intra-abdominal organ DOID:10204 Lipoma of intra-abdominal organs (disorder) disease_ontology true Lipoma of intra-abdominal organs (disorder) SNOMEDCT_2005_07_31:93157006 axillary lipoma An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. DOID:10205 Lipoma of axilla (disorder) NCI:C35419 SNOMEDCT_US_2015_03_01:188993006 UMLS_CUI:C0347429 disease_ontology An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. url:http://en.wikipedia.org/wiki/Axilla url:http://en.wikipedia.org/wiki/Lipoma Lipoma of axilla (disorder) SNOMEDCT_2005_07_31:188993006 lipoma of spermatic cord DOID:10206 ICD9CM:214.4 Lipoma of spermatic cord Lipoma of spermatic cord (disorder) NCI:C3606 SNOMEDCT_US_2015_03_01:93162007 Spermatic Cord Lipoma UMLS_CUI:C0153972 disease_ontology NCI2004_11_17:C3606 Spermatic Cord Lipoma ICD9CM_2006:214.4 Lipoma of spermatic cord Lipoma of spermatic cord (disorder) SNOMEDCT_2005_07_31:93162007 paratesticular lipoma DOID:10207 NCI:C6384 UMLS_CUI:C1335348 disease_ontology chondroid lipoma A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. Chondroid lipoma (disorder) Chondroid lipoma (morphologic abnormality) DOID:10208 NCI:C6503 SNOMEDCT_US_2015_03_01:128746001 SNOMEDCT_US_2015_03_01:404065000 UMLS_CUI:C1266131 disease_ontology Chondroid lipoma (disorder) SNOMEDCT_2005_07_31:404065000 Chondroid lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:128746001 A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. url:http://en.wikipedia.org/wiki/Lipoma extrahepatic bile duct lipoma DOID:10209 Lipoma of the extrahepatic bile duct NCI:C5854 UMLS_CUI:C1333509 disease_ontology Lipoma of the extrahepatic bile duct NCI2004_11_17:C5854 calculus of gallbladder and bile duct without cholecystitis DOID:10210 DOID:10212 calculus of gallbladder and bile duct without cholecystitis, with obstruction disease_ontology true cholelithiasis DOID:10211 EFO:0004799 ICD9CM:574.5 SNOMEDCT_US_2015_03_01:197397004 SNOMEDCT_US_2015_03_01:266475002 UMLS_CUI:C0006739 disease_ontology pinta disease A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. DOID:1021 DOID:1022 DOID:10490 DOID:1813 DOID:3573 ICD10CM:A67 ICD10CM:A67.0 ICD10CM:A67.1 ICD10CM:A67.2 ICD10CM:A67.3 ICD10CM:A67.9 ICD9CM:103 ICD9CM:103.0 ICD9CM:103.1 ICD9CM:103.2 ICD9CM:103.3 ICD9CM:103.9 MSH:D010874 NCI:C85011 SNOMEDCT_US_2015_03_01:186975003 SNOMEDCT_US_2015_03_01:186976002 SNOMEDCT_US_2015_03_01:187373005 SNOMEDCT_US_2015_03_01:22064009 SNOMEDCT_US_2015_03_01:240685007 SNOMEDCT_US_2015_03_01:4669001 SNOMEDCT_US_2015_03_01:68131004 SNOMEDCT_US_2015_03_01:68202005 SNOMEDCT_US_2015_03_01:7251008 SNOMEDCT_US_2015_03_01:73594001 UMLS_CUI:C0031946 UMLS_CUI:C0153241 UMLS_CUI:C0153242 UMLS_CUI:C0153243 UMLS_CUI:C0153244 disease_ontology A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. url:http://emedicine.medscape.com/article/225576-overview#a0104 failed induction DOID:10220 DOID:10221 Failed mechanical induction of labor, antepartum disease_ontology true polymyositis DOID:10222 disease_ontology true dermatomyositis A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. Amyopathic dermatomyositis DOID:10223 Dermatopolymyositis, unspecified ICD10CM:M33 ICD10CM:M33.9 ICD10CM:M33.90 ICD9CM:710.3 MSH:C538250 added from NeuroDevNet [WAK]. MSH:D003882 NCI:C26744 Polymyositis with skin involvement SNOMEDCT_US_2015_03_01:156456005 SNOMEDCT_US_2015_03_01:201445002 SNOMEDCT_US_2015_03_01:201448000 SNOMEDCT_US_2015_03_01:203795006 SNOMEDCT_US_2015_03_01:38826005 SNOMEDCT_US_2015_03_01:396230008 UMLS_CUI:C0011633 dermatopolymyositis disease_ontology Dermatopolymyositis, unspecified SNOMEDCT_2005_07_31:201448000 Amyopathic dermatomyositis MSH:C538250 MTHICD9_2006:710.3 Polymyositis with skin involvement A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. url:http://en.wikipedia.org/wiki/Dermatomyositis url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis single episode manic disorder DOID:10226 disease_ontology true partial epilepsy, with impairment of consciousness, with intractable epilepsy DOID:10229 disease_ontology true borderline leprosy A leprosy that results in small numerous red irregularly shaped plaques. Borderline leprosy (disorder) Borderline leprosy [group B] Borderline or dimorphous leprosy DOID:1023 ICD10CM:A30.3 ICD9CM:030.3 MSH:D015439 Midborderline leprosy (disorder) SNOMEDCT_US_2015_03_01:400008009 SNOMEDCT_US_2015_03_01:50521002 UMLS_CUI:C0023346 disease_ontology Midborderline leprosy (disorder) SNOMEDCT_2005_07_31:400154003 Borderline leprosy (disorder) SNOMEDCT_2005_07_31:50521002 Borderline leprosy (disorder) SNOMEDCT_2005_07_31:400008009 Borderline leprosy [group B] ICD9CM_2006:030.3 A leprosy that results in small numerous red irregularly shaped plaques. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Borderline_leprosy Borderline or dimorphous leprosy MTHICD9_2006:030.3 aortic atherosclerosis Aortic atherosclerosis Atherosclerosis of aorta (disorder) DOID:10230 ICD10CM:I70.0 ICD9CM:440.0 SNOMEDCT_US_2015_03_01:155415000 SNOMEDCT_US_2015_03_01:195252007 SNOMEDCT_US_2015_03_01:81817003 UMLS_CUI:C0155733 disease_ontology Aortic atherosclerosis SNOMEDCT_2005_07_31:195252007 Atherosclerosis of aorta (disorder) SNOMEDCT_2005_07_31:81817003 Aortic atherosclerosis SNOMEDCT_2005_07_31:155415000 Histoplasma capsulatum pericarditis An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. DOID:10233 Histoplasma capsulatum with pericarditis (disorder) disease_ontology true Histoplasma capsulatum with pericarditis (disorder) SNOMEDCT_2005_07_31:187040006 An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:http://www.ncbi.nlm.nih.gov/pubmed/16924162 histoplasmosis pericarditis DOID:10234 Histoplasmosis with pericarditis (disorder) ICD9CM:115.93 SNOMEDCT_US_2015_03_01:187059008 UMLS_CUI:C0153279 disease_ontology Histoplasmosis with pericarditis (disorder) SNOMEDCT_2005_07_31:187059008 Brown's tendon sheath syndrome Brown tendon sheath syndrome Brown's (tendon) sheath syndrome Brown's sheath syndrome Brown's tendon sheath syndrome (disorder) DOID:10235 ICD10CM:H50.61 ICD9CM:378.61 MSH:D015835 SNOMEDCT_US_2015_03_01:35929003 UMLS_CUI:C0155339 disease_ontology Brown's (tendon) sheath syndrome ICD9CM_2006:378.61 Brown's sheath syndrome MTHICD9_2006:378.61 Brown's tendon sheath syndrome (disorder) SNOMEDCT_2005_07_31:35929003 exhibitionism DOID:10236 ICD10CM:F65.2 ICD9CM:302.4 MSH:D005084 NCI:C94352 SNOMEDCT_US_2015_03_01:154907002 SNOMEDCT_US_2015_03_01:191781000 SNOMEDCT_US_2015_03_01:192514003 SNOMEDCT_US_2015_03_01:268763002 SNOMEDCT_US_2015_03_01:58349009 UMLS_CUI:C0015269 disease_ontology pelvic cancer A malignant neoplasm that is manifested in the pelvic region. DOID:10237 disease_ontology neoplasm of pelvis (disorder) pelvis neoplasm true SNOMEDCT_2005_07_31:126644004 neoplasm of pelvis (disorder) CSP2005:2005-4862 pelvis neoplasm A malignant neoplasm that is manifested in the pelvic region. url:http://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm malignant neoplasm of rectum, rectosigmoid junction and anus DOID:10238 disease_ontology malignant neoplasm of rectum, rectosigmoid junction and anus (disorder) malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder) malignant neoplasm of rectum, rectosigmoid junction, and anus true SNOMEDCT_2005_07_31:187766002 malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder) ICD9CM_2006:154 malignant neoplasm of rectum, rectosigmoid junction, and anus SNOMEDCT_2005_07_31:187760008 malignant neoplasm of rectum, rectosigmoid junction and anus (disorder) malignant neoplasm of pelvic bones, sacrum and coccyx Ca pelvic bones/sacrum/coccyx Ca pelvic bones/sacrum/coccyx (disorder) DOID:10239 disease_ontology malignant neoplasm of pelvic bones, sacrum and coccyx (disorder) malignant neoplasm of pelvic bones, sacrum, and coccyx malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) true Ca pelvic bones/sacrum/coccyx (disorder) SNOMEDCT_2005_07_31:269573006 ICD9CM_2006:170.6 malignant neoplasm of pelvic bones, sacrum, and coccyx SNOMEDCT_2005_07_31:187952001 malignant neoplasm of pelvic bones, sacrum and coccyx (disorder) SNOMEDCT_2005_07_31:187958002 malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) Ca pelvic bones/sacrum/coccyx SNOMEDCT_2005_07_31:154498005 leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. DOID:1024 EFO:0001054 ICD10CM:A30 ICD10CM:A30.9 ICD9CM:030 ICD9CM:030.9 MSH:D007918 NCI:C84824 OMIM:246300 OMIM:607572 OMIM:609888 OMIM:610988 OMIM:613223 OMIM:613407 ORDO:548 SNOMEDCT_US_2015_03_01:154298007 SNOMEDCT_US_2015_03_01:186339006 SNOMEDCT_US_2015_03_01:187316006 SNOMEDCT_US_2015_03_01:266184007 SNOMEDCT_US_2015_03_01:81004002 UMLS_CUI:C0023343 Xref MGI. disease_ontology A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Leprosy malignant neoplasm of pelvis DOID:10240 disease_ontology malignant neoplasm of pelvis NOS (disorder) malignant neoplasm of pelvis, NOS malignant tumor of pelvis (disorder) true SNOMEDCT_2005_07_31:363484005 malignant tumor of pelvis (disorder) SNOMEDCT_2005_07_31:188370005 malignant neoplasm of pelvis NOS (disorder) SNOMEDCT_2005_07_31:93953009 malignant neoplasm of pelvis, NOS thalassemia DOID:10241 DOID:12242 DOID:12243 ICD10CM:D56 ICD10CM:D56.9 ICD9CM:282.4 ICD9CM:282.40 MSH:D013789 NCI:C35069 OMIM mapping confirmed by DO. [LS]. OMIM:604131 SNOMEDCT_US_2015_03_01:154796005 SNOMEDCT_US_2015_03_01:191182000 SNOMEDCT_US_2015_03_01:191192008 SNOMEDCT_US_2015_03_01:191193003 SNOMEDCT_US_2015_03_01:267521001 SNOMEDCT_US_2015_03_01:267557006 SNOMEDCT_US_2015_03_01:40108008 SNOMEDCT_US_2015_03_01:84188003 Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis UMLS_CUI:C0039730 disease_ontology thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis ICD9CM_2006:282.42 Sickle-cell thalassemia with crisis ICD9CM_2006:282.41 Sickle-cell thalassemia without crisis ehrlichiosis A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. DOID:0050023 DOID:10242 ICD10CM:A77.4 ICD10CM:A77.40 ICD9CM:082.4 ICD9CM:082.40 MSH:D016873 SNOMEDCT_US_2015_03_01:77361002 UMLS_CUI:C0085399 disease_ontology human ehrlichiosis A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview url:http://en.wikipedia.org/wiki/Ehrlichiosis delayed separation of umbilical cord DOID:10245 disease_ontology true pleurisy A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. DOID:10247 ICD9CM:511.8 UMLS_CUI:C0029799 disease_ontology A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. url:http://en.wikipedia.org/wiki/Pleurisy url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 tuberculoid leprosy A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. DOID:1025 ICD10CM:A30.1 ICD9CM:030.1 MSH:D015441 SNOMEDCT_US_2015_03_01:70143003 Smooth leprosy Tuberculoid leprosy [type T] UMLS_CUI:C0023351 disease_ontology type T leprosy MTHICD9_2006:030.1 type T leprosy A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Tuberculoid_leprosy SNOMEDCT_2005_07_31:70143003 Smooth leprosy ICD9CM_2006:030.1 Tuberculoid leprosy [type T] louping ill A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. DOID:10250 ICD10CM:A84.8 ICD9CM:063.1 Louping ill MSH:D008146 SNOMEDCT_US_2015_03_01:59350003 UMLS_CUI:C0024025 disease_ontology ICD9CM_2006:063.1 Louping ill A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. url:http://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/15606630 strawberry gallbladder Cholesterolosis of gallbladder Cholesterolosis of gallbladder (disorder) DOID:10254 ICD10CM:K82.4 ICD9CM:575.6 SNOMEDCT_US_2015_03_01:61565001 UMLS_CUI:C0152456 disease_ontology Cholesterolosis of gallbladder (disorder) SNOMEDCT_2005_07_31:61565001 Cholesterolosis of gallbladder ICD9CM_2006:575.6 conjunctival degenerations and deposits Conjunctival degenerations and deposits (disorder) DOID:10255 disease_ontology true Conjunctival degenerations and deposits (disorder) SNOMEDCT_2005_07_31:193885005 vitamin A deficiency with conjunctival xerosis DOID:10256 disease_ontology true vitamin A deficiency with conjunctival xerosis (disorder) SNOMEDCT_2005_07_31:27796003 vitamin A deficiency with conjunctival xerosis (disorder) vitamin A deficiency DOID:10257 disease_ontology true discharging ear DOID:10261 ICD10CM:H92.1 ICD10CM:H92.10 ICD9CM:388.6 ICD9CM:388.60 NCI:C35199 SNOMEDCT_US_2015_03_01:139633004 SNOMEDCT_US_2015_03_01:155250006 SNOMEDCT_US_2015_03_01:162364004 SNOMEDCT_US_2015_03_01:194403000 SNOMEDCT_US_2015_03_01:194405007 SNOMEDCT_US_2015_03_01:267676003 SNOMEDCT_US_2015_03_01:300132001 SNOMEDCT_US_2015_03_01:65668001 UMLS_CUI:C0155540 disease_ontology Mumps virus hepatitis A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. DOID:10263 Mumps hepatitis (disorder) disease_ontology true A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. url:url:http://www.ncbi.nlm.nih.gov/pubmed/13361586 Mumps hepatitis (disorder) SNOMEDCT_2005_07_31:89231008 mumps A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. DOID:10264 ICD10CM:B26 ICD10CM:B26.9 ICD9CM:072 MSH:D009107 NCI:C29888 SNOMEDCT_US_2015_03_01:154352008 SNOMEDCT_US_2015_03_01:186651001 SNOMEDCT_US_2015_03_01:186652008 SNOMEDCT_US_2015_03_01:240526004 SNOMEDCT_US_2015_03_01:36989005 UMLS_CUI:C0026780 disease_ontology A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. url:http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf hairy cell leukemia of spleen DOID:10265 Hairy cell leukemia of spleen (disorder) ICD9CM:202.47 Leukemic reticuloendotheliosis involving spleen Leukemic reticuloendotheliosis of spleen (disorder) SNOMEDCT_US_2015_03_01:188651007 SNOMEDCT_US_2015_03_01:93151007 UMLS_CUI:C0153832 disease_ontology ICD9CM_2006:202.47 Leukemic reticuloendotheliosis involving spleen Leukemic reticuloendotheliosis of spleen (disorder) SNOMEDCT_2005_07_31:188651007 Hairy cell leukemia of spleen (disorder) SNOMEDCT_2005_07_31:93151007 subendocardial infarction acute myocardial infarction DOID:10266 ICD9CM:410.7 UMLS_CUI:C0155655 disease_ontology left bundle branch hemiblock DOID:10272 ICD10CM:I44.60 ICD9CM:426.2 Left bundle branch [block] or [hemiblock] Left bundle branch hemiblock (disorder) Left bundle branch hemiblock NOS (disorder) SNOMEDCT_US_2015_03_01:195044001 SNOMEDCT_US_2015_03_01:195045000 SNOMEDCT_US_2015_03_01:266245009 SNOMEDCT_US_2015_03_01:4973001 UMLS_CUI:C0155702 disease_ontology Left bundle branch hemiblock (disorder) SNOMEDCT_2005_07_31:4973001 Left bundle branch hemiblock NOS (disorder) SNOMEDCT_2005_07_31:195045000 Left bundle branch [block] or [hemiblock] SNOMEDCT_2005_07_31:195044001 heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system. DOID:10273 ICD9CM:426.6 SNOMEDCT_US_2015_03_01:195053008 SNOMEDCT_US_2015_03_01:195056000 UMLS_CUI:C0029630 disease_ontology heart rhythm disease A cardiovascular system disease that involves the heart's electrical conduction system. url:http://en.wikipedia.org/wiki/Conduction_system_of_the_heart schizo-affective type schizophrenia in remission DOID:10274 disease_ontology true Pseudomonas intestinal infectious disease A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. DOID:10277 disease_ontology intestinal infection due to Pseudomonas (disorder) intestinal infectious disease due to pseudomonas true SNOMEDCT_2005_07_31:82930004 intestinal infection due to Pseudomonas (disorder) A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. url:http://emedicine.medscape.com/article/970904-overview Vasa previa complicating labor and delivery DOID:10278 Vasa previa complicating labor and delivery, unspecified as to episode of care disease_ontology true ICD9CM_2006:663.50 Vasa previa complicating labor and delivery, unspecified as to episode of care Vasa previa DOID:10279 Vasa praevia Vasa previa (disorder) Vasa previa NOS (disorder) Vasa previa complicating labor and delivery, antepartum Vasa previa unspecified (disorder) disease_ontology true SNOMEDCT_2005_07_31:79668009 Vasa previa (disorder) SNOMEDCT_2005_07_31:199894008 Vasa previa unspecified (disorder) SNOMEDCT_2005_07_31:199897001 Vasa previa NOS (disorder) SNOMEDCT_2005_07_31:199893002 Vasa praevia ICD9CM_2006:663.53 Vasa previa complicating labor and delivery, antepartum Vasa previa complicating labor and delivery, delivered DOID:10280 disease_ontology true prostate cancer A male reproductive organ cancer that is located_in the prostate. DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MSH:D011471 NCI:C3343 NCI:C7378 NGP - new growth of prostate OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 OMIM:614761 ORDO:1331 SNOMEDCT_US_2015_03_01:126906006 SNOMEDCT_US_2015_03_01:363448003 SNOMEDCT_US_2015_03_01:399068003 SNOMEDCT_US_2015_03_01:93974005 UMLS_CUI:C0033578 UMLS_CUI:C0376358 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate CSP2005:2016-2641 prostatic cancer NCI2004_11_17:C3343 tumor of the prostate CSP2005:2016-2641 prostate neoplasm NCI2004_11_17:C7378 malignant tumor of the prostate NGP - new growth of prostate SNOMEDCT_2005_07_31:363448003 MSH:C537243 prostate cancer, familial A male reproductive organ cancer that is located_in the prostate. url:http://www.cancer.gov/dictionary?CdrID=445079 prostate carcinoma A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:10286 EFO:0001663 KEGG:05215 NCI:C4863 SNOMEDCT_US_2015_03_01:154531004 SNOMEDCT_US_2015_03_01:254900004 SNOMEDCT_US_2015_03_01:363448003 UMLS_CUI:C0600139 cancer of prostate carcinoma OF PROSTATE carcinoma of prostate carcinoma of prostate (disorder) disease_ontology SNOMEDCT_2005_07_31:254900004 carcinoma of prostate (disorder) MTH:612 carcinoma OF PROSTATE SNOMEDCT_2005_07_31:154531004 carcinoma of prostate NCI2004_11_17:C4863 cancer of prostate SNOMEDCT_2005_07_31:363448003 cancer of prostate A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma prostate squamous cell carcinoma DOID:10287 NCI:C5536 SNOMEDCT_US_2015_03_01:399590005 UMLS_CUI:C1302530 disease_ontology squamous cell carcinoma of prostate squamous cell carcinoma of prostate (disorder) squamous cell carcinoma of the prostate NCI2004_11_17:C5536 squamous cell carcinoma of the prostate SNOMEDCT_2005_07_31:399590005 squamous cell carcinoma of prostate (disorder) metastasis to prostate DOID:10288 disease_ontology metastatic neoplasm to the prostate secondary malignant neoplasm of prostate (disorder) true NCI2004_11_17:C7080 metastatic neoplasm to the prostate SNOMEDCT_2005_07_31:94503003 secondary malignant neoplasm of prostate (disorder) prostate malignant phyllodes tumor DOID:10289 MSH:C549759 NCI:C5531 UMLS_CUI:C1334615 disease_ontology malignant Phyllodes neoplasm of the prostate NCI2004_11_17:C5531 malignant Phyllodes neoplasm of the prostate familial periodic paralysis DOID:1029 ICD10CM:G72.3 MSH:D010245 NCI:C84709 SNOMEDCT_US_2015_03_01:155099000 SNOMEDCT_US_2015_03_01:193241004 SNOMEDCT_US_2015_03_01:267607008 SNOMEDCT_US_2015_03_01:267714003 SNOMEDCT_US_2015_03_01:54696002 UMLS_CUI:C0030443 disease_ontology prostate lymphoma DOID:10290 Lymphoma of the prostate NCI:C5533 UMLS_CUI:C1335512 disease_ontology lymphoma of prostate Lymphoma of the prostate NCI2004_11_17:C5533 monocular esotropia DOID:10293 ICD10CM:H50.01 ICD9CM:378.01 MSH:D004948 SNOMEDCT_US_2015_03_01:194075001 SNOMEDCT_US_2015_03_01:5455000 UMLS_CUI:C0152204 disease_ontology intermittent monocular esotropia DOID:10294 Intermittent esotropia, monocular Intermittent monocular esotropia (disorder) Monocular intermittent esotropia (disorder) disease_ontology true Monocular intermittent esotropia (disorder) SNOMEDCT_2005_07_31:31447006 Intermittent monocular esotropia (disorder) SNOMEDCT_2005_07_31:194101008 ICD9CM_2006:378.21 Intermittent esotropia, monocular monocular esotropia with A pattern DOID:10295 Monocular esotropia with A pattern (disorder) disease_ontology true Monocular esotropia with A pattern (disorder) SNOMEDCT_2005_07_31:58409000 monocular esotropia with V pattern DOID:10296 Monocular esotropia with V pattern (disorder) disease_ontology true Monocular esotropia with V pattern (disorder) SNOMEDCT_2005_07_31:65215002 Raynaud disease DOID:10300 ICD10CM:I73.0 MSH:D011928 NCI:C34972 OMIM mapping confirmed by DO. [SN]. OMIM:179600 Raynaud's disease Raynaud's disease (disorder) Raynaud's syndrome Raynaud's syndrome (disorder) Raynaud's syndrome (disorder) [Ambiguous] Raynaud's syndrome NOS (disorder) SNOMEDCT_US_2015_03_01:123266007 SNOMEDCT_US_2015_03_01:195295006 SNOMEDCT_US_2015_03_01:22954002 UMLS_CUI:C0034734 disease_ontology MTH:639 Raynaud's disease Raynaud's disease SNOMEDCT_2005_07_31:123266007 CSP2005:0571-7333 Raynaud's disease Raynaud's syndrome SNOMEDCT_2005_07_31:266319002 MTHICD9_2006:443.0 Raynaud's disease ICD9CM_2006:443.0 Raynaud's syndrome Raynaud's syndrome SNOMEDCT_2005_07_31:155429004 Raynaud's syndrome NOS (disorder) SNOMEDCT_2005_07_31:195297003 Raynaud's disease (disorder) SNOMEDCT_2005_07_31:195295006 Raynaud's syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:22954002 Raynaud's syndrome (disorder) SNOMEDCT_2005_07_31:195294005 NCI2004_11_17:C34972 Raynaud's disease parotitis A parotid disease characterized by the inflammation of one or both parotid glands. DOID:10301 ICD10CM:K11.2 MSH:D010309 NCI:C114281 SNOMEDCT_US_2015_03_01:14756005 SNOMEDCT_US_2015_03_01:196481002 SNOMEDCT_US_2015_03_01:196484005 UMLS_CUI:C0030583 disease_ontology A parotid disease characterized by the inflammation of one or both parotid glands. url:http://en.wikipedia.org/wiki/Parotitis parotid disease DOID:10302 MSH:D010305 UMLS_CUI:C0030579 disease_ontology sialadenitis DOID:10303 ICD10CM:K11.2 ICD10CM:K11.20 ICD9CM:527.2 MSH:D012793 NCI:C26882 SNOMEDCT_US_2015_03_01:155655005 SNOMEDCT_US_2015_03_01:196481002 SNOMEDCT_US_2015_03_01:196490009 SNOMEDCT_US_2015_03_01:266494007 SNOMEDCT_US_2015_03_01:42982001 Sialoadenitis UMLS_CUI:C0037023 disease_ontology SNOMEDCT_2005_07_31:266494007 Sialoadenitis Mumps virus infectious disease A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. DOID:10304 Rubulavirus infectious disease disease_ontology true A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. url:http://www.expasy.org/viralzone/all_by_species/88.html Mumps virus orchitis A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. DOID:10305 Mumps orchitis (disorder) disease_ontology true A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. url:http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm Mumps orchitis (disorder) SNOMEDCT_2005_07_31:78580004 Mumps virus polyneuritis A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. DOID:10307 Mumps polyneuropathy (disorder) Polyneuropathy in mumps (disorder) disease_ontology true Polyneuropathy in mumps (disorder) SNOMEDCT_2005_07_31:193192002 Mumps polyneuropathy (disorder) SNOMEDCT_2005_07_31:31524007 A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. url:http://www.merckmanuals.com/home/sec06/ch095/ch095h.html url:http://www.merckmanuals.com/professional/sec14/ch193/ch193d.html Mumps virus meningitis A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. DOID:10309 Mumps meningitis (disorder) disease_ontology true A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. url:http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784 Mumps meningitis (disorder) SNOMEDCT_2005_07_31:44201003 viral meningitis DOID:10310 ICD10CM:A87 ICD10CM:A87.9 ICD9CM:047.9 MSH:D008587 SNOMEDCT_US_2015_03_01:154321007 SNOMEDCT_US_2015_03_01:154984006 SNOMEDCT_US_2015_03_01:154985007 SNOMEDCT_US_2015_03_01:186490006 SNOMEDCT_US_2015_03_01:187403007 SNOMEDCT_US_2015_03_01:192672003 SNOMEDCT_US_2015_03_01:266097006 SNOMEDCT_US_2015_03_01:266190006 SNOMEDCT_US_2015_03_01:267575007 SNOMEDCT_US_2015_03_01:267680008 SNOMEDCT_US_2015_03_01:58170007 UMLS_CUI:C0025297 disease_ontology Mumps virus encephalitis A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. DOID:10311 Mumps encephalitis (disorder) disease_ontology true A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5046780 Mumps encephalitis (disorder) SNOMEDCT_2005_07_31:31646008 Mumps virus pancreatitis A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. DOID:10312 Mumps pancreatitis (disorder) disease_ontology true Mumps pancreatitis (disorder) SNOMEDCT_2005_07_31:10665004 A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. url:http://emedicine.medscape.com/article/966678-overview endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. DOID:10314 DOID:14058 ICD10CM:I33.9 ICD9CM:421.9 MSH:D004696 NCI:C34582 NCI:C35432 SNOMEDCT_US_2015_03_01:194935007 SNOMEDCT_US_2015_03_01:56819008 SNOMEDCT_US_2015_03_01:91357005 UMLS_CUI:C0014118 UMLS_CUI:C0375268 disease_ontology A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. url:http://wn.wikipedia.org/wiki/Endocarditis url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust. DOID:10316 ICD10CM:J64 ICD9CM:505 MSH:D011009 NCI:C26861 SNOMEDCT_US_2015_03_01:155587002 SNOMEDCT_US_2015_03_01:155591007 SNOMEDCT_US_2015_03_01:196004000 SNOMEDCT_US_2015_03_01:196016006 SNOMEDCT_US_2015_03_01:266401007 SNOMEDCT_US_2015_03_01:40122008 UMLS_CUI:C0032273 disease_ontology An interstitial lung disease that is caused by the inhalation of dust. url:http://en.wikipedia.org/wiki/Pneumoconiosis mixed mineral dust pneumoconiosis DOID:10319 NCI:C27559 SNOMEDCT_US_2015_03_01:233759002 UMLS_CUI:C0340184 disease_ontology mixed mineral dust pneumoconiosis (disorder) SNOMEDCT_2005_07_31:233759002 mixed mineral dust pneumoconiosis (disorder) asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers. Asbestosis NOS (disorder) CSP:2596-4484 DOID:10320 ICD10CM:J61 ICD9CM:501 MSH:D001195 NCI:C84573 SNOMEDCT_US_2015_03_01:155589004 SNOMEDCT_US_2015_03_01:196006003 SNOMEDCT_US_2015_03_01:22607003 SNOMEDCT_US_2015_03_01:266400008 UMLS_CUI:C0003949 disease_ontology A pneumoconiosis caused by inhalation and retention of asbestos fibers. url:http://en.wikipedia.org/wiki/Asbestosis Asbestosis NOS (disorder) SNOMEDCT_2005_07_31:196006003 baritosis Baritosis (disorder) DOID:10321 MSH:C537080 NCI:C34410 SNOMEDCT_US_2015_03_01:50076003 UMLS_CUI:C0340177 disease_ontology Baritosis (disorder) SNOMEDCT_2005_07_31:50076003 berylliosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. Berylliosis (disorder) DOID:10322 ICD10CM:J63.2 MSH:D001607 SNOMEDCT_US_2015_03_01:8247009 UMLS_CUI:C0005138 beryllium poisoning disease_ontology Berylliosis (disorder) SNOMEDCT_2005_07_31:8247009 A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. sn:IEDB url:http://en.wikipedia.org/wiki/Berylliosis CSP2005:1858-2321 beryllium poisoning byssinosis Byssinosis (disorder) DOID:10323 Flax-dressers' disease ICD10CM:J66.0 MSH:D002095 NCI:C84605 SNOMEDCT_US_2015_03_01:155589004 SNOMEDCT_US_2015_03_01:233689004 SNOMEDCT_US_2015_03_01:266400008 SNOMEDCT_US_2015_03_01:85761009 Stripper's asthma UMLS_CUI:C0006542 cotton mill fever disease_ontology SNOMEDCT_2005_07_31:13151001 Stripper's asthma Flax-dressers' disease MTHICD9_2006:504 CSP2005:2596-2097 cotton mill fever Flax-dressers' disease SNOMEDCT_2005_07_31:196014009 Byssinosis (disorder) SNOMEDCT_2005_07_31:85761009 anthracosilicosis CSP:2596-4484 DOID:10324 ICD10CM:J60 MSH:D000874 NCI:C34389 SNOMEDCT_US_2015_03_01:33548005 UMLS_CUI:C0003164 disease_ontology silicosis A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. DOID:10325 DOID:14007 ICD10CM:J62 ICD10CM:J62.8 ICD9CM:502 MSH:D012829 NCI:C3369 Pneumoconiosis due to other silica or silicates Pneumoconiosis due to silica (disorder) Pneumoconiosis due to silicates (disorder) SNOMEDCT_US_2015_03_01:155590008 SNOMEDCT_US_2015_03_01:196010000 SNOMEDCT_US_2015_03_01:805002 Silica pneumoconiosis NOS (disorder) Silicotic fibrosis of lung UMLS_CUI:C0037116 disease_ontology silicotuberculosis Pneumoconiosis due to silica (disorder) SNOMEDCT_2005_07_31:805002 ICD9CM_2006:502 Pneumoconiosis due to other silica or silicates A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. ls:IEDB url:http://en.wikipedia.org/wiki/Silicosis SNOMEDCT_2005_07_31:196010000 Silica pneumoconiosis NOS (disorder) Pneumoconiosis due to silicates (disorder) SNOMEDCT_2005_07_31:83316006 MTHICD9_2006:502 Silicotic fibrosis of lung Caplan's syndrome A pneumoconiosis that results_in humans that also have rheumatoid arthritis. Caplan syndrome Caplan's disease Caplans syndrome DOID:10326 MSH:D002205 Rheumatoid pneumoconiosis SNOMEDCT_US_2015_03_01:111280008 SNOMEDCT_US_2015_03_01:201813004 SNOMEDCT_US_2015_03_01:398640008 UMLS_CUI:C0006915 disease_ontology A pneumoconiosis that results_in humans that also have rheumatoid arthritis. url:http://en.wikipedia.org/wiki/Caplan%27s_syndrome url:http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm Rheumatoid pneumoconiosis SNOMEDCT_2005_07_31:111280008 Caplans syndrome SNOMEDCT_2005_07_31:201813004 anthracosis Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis DOID:10327 ICD10CM:J60 ICD9CM:500 MSH:D055008 Melanoedema NCI:C34390 SNOMEDCT_US_2015_03_01:155588007 SNOMEDCT_US_2015_03_01:29422001 UMLS_CUI:C0003165 black lung disease_ontology Coal workers' pneumoconiosis SNOMEDCT_2005_07_31:155588007 Coal workers' pneumoconiosis ICD9CM_2006:500 Melanoedema SNOMEDCT_2005_07_31:29422001 CSP2005:2596-4484 black lung Coal Miner's Pneumoconiosis NCI2004_11_17:C34390 Coal workers' lung MTHICD9_2006:500 siderosis DOID:10328 ICD10CM:J63.4 MSH:D012806 SNOMEDCT_US_2015_03_01:155591007 SNOMEDCT_US_2015_03_01:266401007 SNOMEDCT_US_2015_03_01:62371005 UMLS_CUI:C0037061 disease_ontology pulmonary siderosis (disorder) SNOMEDCT_2005_07_31:62371005 pulmonary siderosis (disorder) pneumoconiosis due to talc DOID:10329 ICD10CM:J62.0 NCI:C27026 Pneumoconiosis due to talc (disorder) SNOMEDCT_US_2015_03_01:73144008 Talc Pneumoconiosis UMLS_CUI:C0238377 disease_ontology NCI2004_11_17:C27026 Talc Pneumoconiosis Pneumoconiosis due to talc (disorder) SNOMEDCT_2005_07_31:73144008 slate pneumoconiosis DOID:10330 NCI:C35397 SNOMEDCT_US_2015_03_01:1259003 Schistosis (disorder) UMLS_CUI:C0340186 disease_ontology SNOMEDCT_2005_07_31:1259003 Schistosis (disorder) kaolin pneumoconiosis DOID:10331 Kaolinosis (disorder) NCI:C35315 SNOMEDCT_US_2015_03_01:36696005 UMLS_CUI:C0264435 disease_ontology Kaolinosis (disorder) SNOMEDCT_2005_07_31:36696005 disorder of optic chiasm due to vascular disorder DOID:10332 disease_ontology disorder of optic chiasm associated with vascular disorder true ICD9CM_2006:377.53 disorder of optic chiasm associated with vascular disorder craniofacial abnormality Congenital abnormality of skull and face bones (disorder) Congenital anomalies of skull and face bones DOID:10334 DOID:1295 Skull and face &/or face bone anomalies Skull or face bone anomaly NOS Skull or face bone anomaly NOS (disorder) disease_ontology true SNOMEDCT_2005_07_31:205423005 Skull or face bone anomaly NOS SNOMEDCT_2005_07_31:205409008 Skull and face &/or face bone anomalies SNOMEDCT_2005_07_31:268269002 Skull or face bone anomaly NOS (disorder) Congenital anomalies of skull and face bones ICD9CM_2006:756.0 Congenital abnormality of skull and face bones (disorder) SNOMEDCT_2005_07_31:268239009 glaucomatous atrophy of optic disc DOID:10337 Glaucomatous atrophy [cupping] of optic disc Glaucomatous atrophy of optic disc (disorder) Glaucomatous cupping of optic disc ICD10CM:H47.23 ICD9CM:377.14 SNOMEDCT_US_2015_03_01:1207009 UMLS_CUI:C0271342 disease_ontology Glaucomatous cupping of optic disc MTHICD9_2006:377.14 Glaucomatous atrophy of optic disc (disorder) SNOMEDCT_2005_07_31:1207009 Glaucomatous atrophy [cupping] of optic disc ICD9CM_2006:377.14 subchronic schizophrenia DOID:10338 Unspecified schizophrenia, subchronic state disease_ontology subchronic Schizophrenia subchronic schizophrenia (disorder) true ICD9CM_2006:295.91 Unspecified schizophrenia, subchronic state SNOMEDCT_2005_07_31:16990005 subchronic schizophrenia (disorder) NCI2004_11_17:C35185 subchronic Schizophrenia schizophrenia simplex DOID:10339 disease_ontology simple schizophrenia simple schizophrenia (disorder) simple schizophrenia NOS (disorder) simple type Schizophrenia simple type schizophrenia simple type schizophrenia, unspecified state true SNOMEDCT_2005_07_31:191527001 simple schizophrenia (disorder) CSP2005:2485-0932 simple schizophrenia SNOMEDCT_2005_07_31:154866008 simple schizophrenia NCI2004_11_17:C35269 simple type Schizophrenia SNOMEDCT_2005_07_31:191534004 simple schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:192325006 simple schizophrenia ICD9CM_2006:295.0 simple type schizophrenia ICD9CM_2006:295.00 simple type schizophrenia, unspecified state residual subchronic schizophrenia DOID:10340 Residual schizophrenia, subchronic state disease_ontology subchronic residual schizophrenia (disorder) true SNOMEDCT_2005_07_31:76566000 subchronic residual schizophrenia (disorder) ICD9CM_2006:295.61 Residual schizophrenia, subchronic state chronic meningitis DOID:10341 ICD10CM:G03.1 ICD9CM:322.2 SNOMEDCT_US_2015_03_01:21664006 UMLS_CUI:C0154653 chronic meningitis (disorder) disease_ontology SNOMEDCT_2005_07_31:21664006 chronic meningitis (disorder) subchronic latent schizophrenia DOID:10342 Latent schizophrenia, subchronic state Latent subchronic Schizophrenia disease_ontology subchronic latent schizophrenia (disorder) true Latent subchronic Schizophrenia NCI2004_11_17:C35181 SNOMEDCT_2005_07_31:191561004 subchronic latent schizophrenia (disorder) ICD9CM_2006:295.51 Latent schizophrenia, subchronic state latent schizophrenia DOID:10343 Latent Schizophrenia Latent schizophrenia Latent schizophrenia (disorder) Latent schizophrenia NOS (disorder) Latent schizophrenia, unspecified state Latent schizophrenic reaction Unspecified latent schizophrenia (disorder) disease_ontology true ICD9CM_2006:295.5 Latent schizophrenia Latent schizophrenia (disorder) SNOMEDCT_2005_07_31:191559008 Latent Schizophrenia NCI2004_11_17:C34759 SNOMEDCT_2005_07_31:191560003 Unspecified latent schizophrenia (disorder) Latent schizophrenia SNOMEDCT_2005_07_31:192328008 ICD9CM_2006:295.50 Latent schizophrenia, unspecified state Latent schizophrenic reaction MTHICD9_2006:295.5 Latent schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:191566009 blepharophimosis DOID:10348 ICD10CM:H02.52 ICD9CM:374.46 MSH:D016569 UMLS_CUI:C0005744 disease_ontology solitary cyst of breast DOID:10349 ICD10CM:N60.0 ICD10CM:N60.09 ICD9CM:610.0 NCI:C3378 SNOMEDCT_US_2015_03_01:198090005 SNOMEDCT_US_2015_03_01:266578003 SNOMEDCT_US_2015_03_01:270538000 Solitary Cyst of the breast Solitary cyst of breast Solitary cyst of breast (disorder) UMLS_CUI:C0037619 disease_ontology ICD9CM_2006:610.0 Solitary cyst of breast NCI2004_11_17:C3378 Solitary Cyst of the breast SNOMEDCT_2005_07_31:270538000 Solitary cyst of breast SNOMEDCT_2005_07_31:266578003 Solitary cyst of breast (disorder) SNOMEDCT_2005_07_31:198090005 Solitary cyst of breast natural killer cell leukemia Aggressive NK-cell leukemia (morphologic abnormality) DOID:1035 ICD10CM:C94.8 NCI:C8647 SNOMEDCT_US_2015_03_01:128833001 UMLS_CUI:C1292777 disease_ontology large granular Lymphocyte Leukemia, NK-cell type Aggressive NK-cell leukemia (morphologic abnormality) SNOMEDCT_2005_07_31:128833001 NCI2004_11_17:C8647 large granular Lymphocyte Leukemia, NK-cell type breast cyst Cyst of breast Cyst of breast (disorder) Cyst of the breast DOID:10350 ICD10CM:N60.0 MSH:D047688 NCI:C5315 SNOMEDCT_US_2015_03_01:270538000 SNOMEDCT_US_2015_03_01:399294002 SNOMEDCT_US_2015_03_01:56726003 UMLS_CUI:C0006144 disease_ontology Cyst of breast (disorder) SNOMEDCT_2005_07_31:399294002 Cyst of breast SNOMEDCT_2005_07_31:270538000 Cyst of breast MTHICD9_2006:610.0 Cyst of breast (disorder) SNOMEDCT_2005_07_31:56726003 Cyst of the breast NCI2004_11_17:C5315 mammary duct ectasia Comedomastitis DOID:10351 Mammary duct ectasia (disorder) Mammary duct ectasia [Ambiguous] disease_ontology true Comedomastitis MTHICD9_2006:610.4 Comedomastitis NCI2004_11_17:C3522 Mammary duct ectasia [Ambiguous] SNOMEDCT_2005_07_31:198093007 Mammary duct ectasia (disorder) SNOMEDCT_2005_07_31:22049009 breast fibroadenosis DOID:10352 Fibroadenosis - breast Fibroadenosis of breast Fibroadenosis of breast (disorder) Fibroadenosis of breast NOS (disorder) ICD10CM:N60.2 ICD9CM:610.2 SNOMEDCT_US_2015_03_01:198092002 SNOMEDCT_US_2015_03_01:23260002 SNOMEDCT_US_2015_03_01:270893004 UMLS_CUI:C1305875 disease_ontology Fibroadenosis of breast ICD9CM_2006:610.2 Fibroadenosis of breast (disorder) SNOMEDCT_2005_07_31:23260002 Fibroadenosis - breast SNOMEDCT_2005_07_31:270893004 Fibroadenosis of breast NOS (disorder) SNOMEDCT_2005_07_31:198092002 fibrosclerosis of breast DOID:10353 Fibrosclerosis of breast Fibrosclerosis of breast (disorder) Fibrosis of the breast ICD10CM:N60.3 ICD9CM:610.3 NCI:C3660 SNOMEDCT_US_2015_03_01:29070004 UMLS_CUI:C0156318 disease_ontology Fibrosclerosis of breast (disorder) SNOMEDCT_2005_07_31:29070004 Fibrosclerosis of breast ICD9CM_2006:610.3 Fibrosis of the breast NCI2004_11_17:C3660 breast fibrocystic disease DOID:10354 Diffuse cystic mastopathy FIBROcystic DISEASE OF breast Fibrocystic disease of breast Fibrocystic disease of breast (disorder) ICD10CM:N60 ICD10CM:N60.1 ICD9CM:610.1 MSH:D005348 NCI:C3039 SNOMEDCT_US_2015_03_01:198091009 SNOMEDCT_US_2015_03_01:237436008 SNOMEDCT_US_2015_03_01:27431007 UMLS_CUI:C0016034 breast Fibrocystic Change disease_ontology FIBROcystic DISEASE OF breast MTH:302 Diffuse cystic mastopathy SNOMEDCT_2005_07_31:237436008 Fibrocystic disease of breast SNOMEDCT_2005_07_31:198091009 Fibrocystic disease of breast (disorder) SNOMEDCT_2005_07_31:27431007 Fibrocystic disease of breast MTHICD9_2006:610.1 NCI2004_11_17:C3039 breast Fibrocystic Change Fibrocystic disease of breast MTH:119 Diffuse cystic mastopathy ICD9CM_2006:610.1 chronic leukemia A leukemia that develops slowly. CLL CML DOID:1036 adult chronic leukemia disease_ontology A leukemia that develops slowly. url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html eosinophilic meningitis DOID:10361 Eosinophilic meningitis (disorder) ICD9CM:322.1 SNOMEDCT_US_2015_03_01:25671008 UMLS_CUI:C0154652 disease_ontology Eosinophilic meningitis (disorder) SNOMEDCT_2005_07_31:25671008 epididymis cancer DOID:10366 ICD10CM:C63.0 ICD9CM:187.5 NCI:C3558 SNOMEDCT_US_2015_03_01:363452003 SNOMEDCT_US_2015_03_01:93783009 UMLS_CUI:C0153602 disease_ontology malignant Epididymal tumor malignant neoplasm of epididymis malignant tumor of epididymis (disorder) NCI2004_11_17:C3558 malignant Epididymal tumor SNOMEDCT_2005_07_31:363452003 malignant tumor of epididymis (disorder) SNOMEDCT_2005_07_31:93783009 malignant neoplasm of epididymis ICD9CM_2006:187.5 malignant neoplasm of epididymis metastatic tumor to the epididymis DOID:10367 disease_ontology metastatic neoplasm to the Epididymis secondary malignant neoplasm of epididymis (disorder) true SNOMEDCT_2005_07_31:94283001 secondary malignant neoplasm of epididymis (disorder) NCI2004_11_17:C8544 metastatic neoplasm to the Epididymis epididymis adenocarcinoma An epididymis cancer that derives_from epithelial cells of glandular origin. DOID:10368 NCI:C39957 UMLS_CUI:C1510784 adenocarcinoma of the epididymis disease_ontology An epididymis cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma lymphoblastic leukemia A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). DOID:1037 ICD10CM:C91 ICD10CM:C91.9 ICD10CM:C91.90 ICD9CM:204 ICD9CM:204.9 MSH:D007945 NCI:C7539 SNOMEDCT_US_2015_03_01:154587007 SNOMEDCT_US_2015_03_01:188725004 SNOMEDCT_US_2015_03_01:188731001 SNOMEDCT_US_2015_03_01:190033006 SNOMEDCT_US_2015_03_01:269631008 SNOMEDCT_US_2015_03_01:32280000 SNOMEDCT_US_2015_03_01:93170002 UMLS_CUI:C0023448 disease_ontology A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). url:http://www.cancer.gov/dictionary?CdrID=616067 yaws A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. Bouba DOID:10371 ICD10CM:A66 ICD10CM:A66.9 ICD9CM:102 ICD9CM:102.9 MSH:D015001 NCI:C41353 SNOMEDCT_US_2015_03_01:154391003 SNOMEDCT_US_2015_03_01:186974004 SNOMEDCT_US_2015_03_01:187372000 SNOMEDCT_US_2015_03_01:266213004 SNOMEDCT_US_2015_03_01:70647001 UMLS_CUI:C0043388 disease_ontology frambesia frambesia tropica frambosie polypapilloma tropicum thymosis A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. url:http://en.wikipedia.org/wiki/Yaws url:http://www.who.int/mediacentre/factsheets/fs316/en/ suppression amblyopia DOID:10375 ICD10CM:H53.03 ICD9CM:368.01 MSH:D000550 SNOMEDCT_US_2015_03_01:35600002 Strabismic amblyopia Strabismic amblyopia (disorder) Suppression amblyopia UMLS_CUI:C0750903 disease_ontology ICD9CM_2006:368.01 Strabismic amblyopia SNOMEDCT_2005_07_31:35600002 Strabismic amblyopia (disorder) MTHICD9_2006:368.01 Suppression amblyopia amblyopia CSP:1114-9655 DOID:10376 ICD10CM:H53.00 ICD9CM:368.00 MSH:D000550 SNOMEDCT_US_2015_03_01:111517004 SNOMEDCT_US_2015_03_01:155145007 SNOMEDCT_US_2015_03_01:193637007 SNOMEDCT_US_2015_03_01:267627009 SNOMEDCT_US_2015_03_01:267726008 SNOMEDCT_US_2015_03_01:387742006 UMLS_CUI:C0002418 disease_ontology ametropic amblyopia DOID:10377 ICD10CM:H53.02 ICD9CM:368.03 Refractive amblyopia Refractive amblyopia (disorder) SNOMEDCT_US_2015_03_01:90927000 UMLS_CUI:C0152190 disease_ontology Refractive amblyopia (disorder) SNOMEDCT_2005_07_31:90927000 ICD9CM_2006:368.03 Refractive amblyopia disuse amblyopia DOID:10378 Deprivation amblyopia Deprivation amblyopia (disorder) [Ambiguous] ICD10CM:H53.01 ICD9CM:368.02 SNOMEDCT_US_2015_03_01:193638002 SNOMEDCT_US_2015_03_01:21457000 UMLS_CUI:C0152189 disease_ontology Deprivation amblyopia ICD9CM_2006:368.02 Deprivation amblyopia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:21457000 mature T-cell neoplasm DOID:1038 disease_ontology true precipitate labor DOID:10379 DOID:10380 DOID:14438 Precipitate labor, antepartum Precipitate labor, with delivery disease_ontology true staphylococcal meningitis DOID:10381 Staphylococcal meningitis (disorder) disease_ontology true SNOMEDCT_2005_07_31:12166008 Staphylococcal meningitis (disorder) amyotrophic neuralgia DOID:10383 ICD10CM:G54.5 ICD9CM:353.5 MSH:D020968 OMIM mapping confirmed by DO. [SN]. OMIM:162100 SNOMEDCT_US_2015_03_01:193113006 SNOMEDCT_US_2015_03_01:26609002 SNOMEDCT_US_2015_03_01:3548001 UMLS_CUI:C1510479 disease_ontology neuralgic amyotrophy neuralgic amyotrophy (disorder) SNOMEDCT_2005_07_31:3548001 neuralgic amyotrophy ICD9CM_2006:353.5 neuralgic amyotrophy SNOMEDCT_2005_07_31:26609002 neuralgic amyotrophy (disorder) SNOMEDCT_2005_07_31:193113006 neuralgic amyotrophy papilledema associated with decreased ocular pressure DOID:10384 Papilledema associated with decreased ocular pressure (disorder) disease_ontology true Papilledema associated with decreased ocular pressure (disorder) SNOMEDCT_2005_07_31:79155000 prolymphocytic leukemia DOID:1039 MSH:D015463 NCI:C3181 SNOMEDCT_US_2015_03_01:10300002 SNOMEDCT_US_2015_03_01:110006004 SNOMEDCT_US_2015_03_01:128923008 UMLS_CUI:C0023486 disease_ontology secondary hypertrophic osteoarthropathy Bamberger-Marie disease DOID:10393 HPOA - hypertrophic pulmonary osteoarthropathy ICD10CM:M89.4 ICD9CM:731.2 MSH:D010005 Marie Bamberger disease SNOMEDCT_US_2015_03_01:203357004 SNOMEDCT_US_2015_03_01:222712005 SNOMEDCT_US_2015_03_01:46922002 UMLS_CUI:C0029412 disease_ontology hypertrophic pulmonary osteoarthropathy hypertrophic pulmonary osteoarthropathy (disorder) hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous] ICD9CM_2006:731.2 hypertrophic pulmonary osteoarthropathy Bamberger-Marie disease MTHICD9_2006:731.2 SNOMEDCT_2005_07_31:46922002 hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous] HPOA - hypertrophic pulmonary osteoarthropathy SNOMEDCT_2005_07_31:203357004 CSP2005:2715-1220 Marie Bamberger disease SNOMEDCT_2005_07_31:222712005 hypertrophic pulmonary osteoarthropathy (disorder) pneumonic plague A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. DOID:10398 DOID:10401 DOID:10402 ICD10CM:A20.2 ICD9CM:020.3 ICD9CM:020.4 ICD9CM:020.5 MSH:D010930 SNOMEDCT_US_2015_03_01:186283004 SNOMEDCT_US_2015_03_01:35339003 SNOMEDCT_US_2015_03_01:38976008 SNOMEDCT_US_2015_03_01:67525007 UMLS_CUI:C0152937 UMLS_CUI:C0152938 UMLS_CUI:C0524688 disease_ontology primary pneumonic plague secondary pneumonic plague A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. url:http://emedicine.medscape.com/article/829233-overview#a0104 url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area seminal vesicle chronic gonorrhea DOID:10399 Gonococcal seminal vesiculitis, chronic ICD9CM:098.34 SNOMEDCT_US_2015_03_01:23975003 UMLS_CUI:C0153205 chronic gonococcal seminal vesiculitis (disorder) disease_ontology SNOMEDCT_2005_07_31:23975003 chronic gonococcal seminal vesiculitis (disorder) Gonococcal seminal vesiculitis, chronic ICD9CM_2006:098.34 bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. DOID:104 ICD10CM:A49 ICD10CM:A49.9 MSH:D001424 NCI:C2890 SNOMEDCT_US_2015_03_01:154318005 SNOMEDCT_US_2015_03_01:186470002 SNOMEDCT_US_2015_03_01:187347000 SNOMEDCT_US_2015_03_01:266182006 SNOMEDCT_US_2015_03_01:266187000 SNOMEDCT_US_2015_03_01:301811001 SNOMEDCT_US_2015_03_01:87628006 UMLS_CUI:C0004623 disease_ontology A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. url:http://en.wikipedia.org/wiki/Pathogenic_bacteria chronic lymphocytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia CLL DOID:1040 EFO:0000095 ICD10CM:C91.1 ICD10CM:C91.10 ICD9CM:204.1 MSH:D015451 NCI:C3162 NCI:C3163 OMIM:109543 OMIM:151400 OMIM:609630 OMIM:612557 OMIM:612558 OMIM:612559 ORDO:67038 SNOMEDCT_US_2015_03_01:154589005 SNOMEDCT_US_2015_03_01:277473004 SNOMEDCT_US_2015_03_01:51092000 SNOMEDCT_US_2015_03_01:92814006 UMLS_CUI:C0023434 Xref MGI. chronic lymphatic leukemia disease_ontology lymphoplasmacytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia url:http://www.cancer.gov/dictionary?cdrid=346545 gonococcal seminal vesiculitis DOID:10400 Gonococcal seminal vesiculitis (acute) Gonococcal seminal vesiculitis (disorder) Gonorrhea of seminal vesicle SNOMEDCT_US_2015_03_01:301990003 UMLS_CUI:C0578661 disease_ontology Gonococcal seminal vesiculitis (acute) ICD9CM_2006:098.14 Gonococcal seminal vesiculitis (disorder) SNOMEDCT_2005_07_31:301990003 Gonorrhea of seminal vesicle MTHICD9_2006:098.14 Generalized infection during labor DOID:10262 DOID:1041 DOID:1042 Generalized infection during labor, delivered antepartum generalized infection during labor disease_ontology true acute pericementitis DOID:10423 ICD9CM:523.3 ICD9CM:523.33 NCI:C34354 SNOMEDCT_US_2015_03_01:155646007 SNOMEDCT_US_2015_03_01:196361004 SNOMEDCT_US_2015_03_01:196362006 SNOMEDCT_US_2015_03_01:196364007 SNOMEDCT_US_2015_03_01:21638000 UMLS_CUI:C0001342 acute Periodontitis acute pericementitis (disorder) acute periodontitis acute periodontitis (disorder) acute periodontitis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:155646007 acute periodontitis SNOMEDCT_2005_07_31:196364007 acute periodontitis NOS (disorder) SNOMEDCT_2005_07_31:196361004 acute periodontitis ICD9CM_2006:523.3 acute periodontitis NCI2004_11_17:C34354 acute Periodontitis SNOMEDCT_2005_07_31:196362006 acute pericementitis (disorder) SNOMEDCT_2005_07_31:21638000 acute periodontitis (disorder) Klippel-Feil syndrome A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. DOID:10426 DOID:14747 ICD10CM:Q76.1 ICD9CM:756.16 Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry MSH:D007714 NCI:C98967 OMIM:118100 OMIM:214300 OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 OMIM:613702 ORDO:2345 SNOMEDCT_US_2015_03_01:129581007 SNOMEDCT_US_2015_03_01:157003009 SNOMEDCT_US_2015_03_01:205441002 SNOMEDCT_US_2015_03_01:268349005 SNOMEDCT_US_2015_03_01:388981000 SNOMEDCT_US_2015_03_01:5601008 UMLS_CUI:C0022738 Xref MGI. OMIM mapping confirmed by DO. [SN]. autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae disease_ontology Klippel-Feil and Turner syndrome SNOMEDCT_2005_07_31:129581007 A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. url:http://emedicine.medscape.com/article/1264848-overview url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome url:http://www.healthline.com/galecontent/klippel-feil-syndrome url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome SNOMEDCT_2005_07_31:388981000 congenital dystrophia brevicollis stable condition keratoconus DOID:10428 ICD10CM:H18.61 ICD9CM:371.61 Keratoconus, stable condition (disorder) SNOMEDCT_US_2015_03_01:193844000 SNOMEDCT_US_2015_03_01:75253008 Stable condition keratoconus (disorder) UMLS_CUI:C0155131 disease_ontology Keratoconus, stable condition (disorder) SNOMEDCT_2005_07_31:193844000 SNOMEDCT_2005_07_31:75253008 Stable condition keratoconus (disorder) purulent acute otitis media A suppurative otitis media with sudden onset and a short course. DOID:10435 ICD9CM:382.02 UMLS_CUI:C0155439 disease_ontology A suppurative otitis media with sudden onset and a short course. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false metastasis to lymph node DOID:10437 disease_ontology true Mooren's ulcer DOID:10439 ICD10CM:H16.05 ICD9CM:370.07 Mooren ulcer Mooren's ulcer (disorder) SNOMEDCT_US_2015_03_01:22440001 UMLS_CUI:C0155072 disease_ontology Mooren's ulcer (disorder) SNOMEDCT_2005_07_31:22440001 nontraumatic rupture of muscle DOID:1044 Non-traumatic muscle tear Nontraumatic rupture of muscle (disorder) Rupture of muscle, nontraumatic disease_ontology true Nontraumatic rupture of muscle (disorder) SNOMEDCT_2005_07_31:29191005 Non-traumatic muscle tear SNOMEDCT_2005_07_31:156729009 Non-traumatic muscle tear SNOMEDCT_2005_07_31:268106003 ICD9CM_2006:728.83 Rupture of muscle, nontraumatic mycotic corneal ulcer DOID:10440 ICD10CM:H16.06 ICD9CM:370.05 Mycotic corneal ulcer (disorder) SNOMEDCT_US_2015_03_01:397977001 SNOMEDCT_US_2015_03_01:59939007 UMLS_CUI:C0155071 disease_ontology Mycotic corneal ulcer (disorder) SNOMEDCT_2005_07_31:59939007 Mycotic corneal ulcer (disorder) SNOMEDCT_2005_07_31:397977001 marginal corneal ulcer DOID:10441 ICD10CM:H16.04 ICD9CM:370.01 Marginal corneal ulcer (disorder) SNOMEDCT_US_2015_03_01:47398006 UMLS_CUI:C0155067 disease_ontology Marginal corneal ulcer (disorder) SNOMEDCT_2005_07_31:47398006 hypopyon ulcer DOID:10442 Hypopyon ulcer (disorder) ICD10CM:H16.03 ICD9CM:370.04 SNOMEDCT_US_2015_03_01:193762002 SNOMEDCT_US_2015_03_01:267633000 SNOMEDCT_US_2015_03_01:6395007 UMLS_CUI:C0155070 disease_ontology Hypopyon ulcer (disorder) SNOMEDCT_2005_07_31:6395007 hypopyon DOID:10443 Hypopyon (disorder) ICD10CM:H20.05 ICD9CM:364.05 NCI:C50593 SNOMEDCT_US_2015_03_01:87807004 UMLS_CUI:C0020641 disease_ontology Hypopyon (disorder) SNOMEDCT_2005_07_31:87807004 ring corneal ulcer DOID:10444 ICD10CM:H16.02 ICD9CM:370.02 Ring corneal ulcer (disorder) SNOMEDCT_US_2015_03_01:111520007 SNOMEDCT_US_2015_03_01:193760005 UMLS_CUI:C0155068 disease_ontology Ring corneal ulcer (disorder) SNOMEDCT_2005_07_31:111520007 perforated corneal ulcer DOID:10445 ICD10CM:H16.07 ICD9CM:370.06 Perforated corneal ulcer (disorder) SNOMEDCT_US_2015_03_01:46606001 UMLS_CUI:C0151844 disease_ontology Perforated corneal ulcer (disorder) SNOMEDCT_2005_07_31:46606001 thyroid dysfunction complicating pregnancy, childbirth, or the puerperium DOID:10446 DOID:10447 DOID:14076 DOID:14077 Thyroid dysfunction of mother, with delivery antepartum thyroid dysfunction disease_ontology postpartum thyroid dysfunction true fascia disease DOID:1045 disease_ontology true tonsillitis An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. DOID:10454 DOID:10456 DOID:13751 ICD10CM:J35.01 ICD9CM:474.00 MSH:D014069 SNOMEDCT_US_2015_03_01:155530006 SNOMEDCT_US_2015_03_01:195665006 SNOMEDCT_US_2015_03_01:195794009 SNOMEDCT_US_2015_03_01:90176007 SNOMEDCT_US_2015_03_01:90979004 Throat infection - tonsillitis Tonsillitis (disorder) Tonsillitis, NOS UMLS_CUI:C0040425 UMLS_CUI:C0149517 chronic tonsillitis chronic tonsillitis (disorder) disease_ontology An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. url:http://en.wikipedia.org/wiki/Tonsillitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis SNOMEDCT_2005_07_31:90979004 chronic tonsillitis (disorder) SNOMEDCT_2005_07_31:90176007 Tonsillitis (disorder) MTHICD9_2006:463 Tonsillitis, NOS SNOMEDCT_2005_07_31:195665006 Throat infection - tonsillitis Legionnaires' disease (Legionella) or (Legionnaire's disease) A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. DOID:10457 ICD10CM:A48.1 ICD9CM:482.84 Infection by Legionella pneumophilia (disorder) Legionella pneumonia (disorder) MSH:D007877 SNOMEDCT_US_2015_03_01:154315008 SNOMEDCT_US_2015_03_01:195889001 SNOMEDCT_US_2015_03_01:266186009 SNOMEDCT_US_2015_03_01:269574000 SNOMEDCT_US_2015_03_01:312403005 SNOMEDCT_US_2015_03_01:74881002 UMLS_CUI:C0023241 disease_ontology Infection by Legionella pneumophilia (disorder) SNOMEDCT_2005_07_31:269574000 (Legionella) or (Legionnaire's disease) SNOMEDCT_2005_07_31:266186009 Legionella pneumonia (disorder) SNOMEDCT_2005_07_31:195889001 A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. url:http://en.wikipedia.org/wiki/Legionellosis legionellosis A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. DOID:10458 Legionella infection (disorder) MSH:D007876 SNOMEDCT_US_2015_03_01:26726000 UMLS_CUI:C0023240 disease_ontology A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. url:http://en.wikipedia.org/wiki/Legionellosis url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm Legionella infection (disorder) SNOMEDCT_2005_07_31:26726000 common cold Acute viral rhinopharyngitis An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. DOID:10459 ICD10CM:J00 ICD9CM:460 MSH:D003139 NCI:C34500 NCI:C78599 Nasopharyngitis - acute Nasopharyngitis, acute SNOMEDCT_US_2015_03_01:155497009 SNOMEDCT_US_2015_03_01:195648002 SNOMEDCT_US_2015_03_01:232341009 SNOMEDCT_US_2015_03_01:232342002 SNOMEDCT_US_2015_03_01:266377009 SNOMEDCT_US_2015_03_01:54150009 SNOMEDCT_US_2015_03_01:82272006 UMLS_CUI:C0009443 acute Nasopharyngitis acute coryza acute nasopharyngitis [common cold] acute rhinitis disease_ontology rhino-sinusitis MTHICD9_2006:460 Nasopharyngitis, acute ICD9CM_2006:460 acute nasopharyngitis [common cold] Nasopharyngitis - acute SNOMEDCT_2005_07_31:266377009 SNOMEDCT_2005_07_31:232341009 acute rhinitis NCI2004_11_17:C34500 acute Nasopharyngitis An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold nasopharyngitis A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. DOID:10460 DOID:11587 ICD10CM:J00 ICD10CM:J31.1 ICD9CM:472.2 MSH:D009304 NCI:C34837 Nasopharyngitis (disorder) Nasopharyngitis NOS SNOMEDCT_US_2015_03_01:155524006 SNOMEDCT_US_2015_03_01:47841006 SNOMEDCT_US_2015_03_01:51476001 UMLS_CUI:C0027441 UMLS_CUI:C0155826 chronic nasopharyngitis chronic nasopharyngitis (disorder) disease_ontology Nasopharyngitis (disorder) SNOMEDCT_2005_07_31:51476001 MTHICD9_2006:460 Nasopharyngitis NOS A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis url:http://www.merriam-webster.com/medical/nasopharyngitis SNOMEDCT_2005_07_31:47841006 chronic nasopharyngitis (disorder) dentin caries Compound dental caries (disorder) DOID:10461 Dental caries extending into dentine Dentin caries, NOS ICD9CM:521.02 SNOMEDCT_US_2015_03_01:442551007 SNOMEDCT_US_2015_03_01:44828002 SNOMEDCT_US_2015_03_01:50047001 UMLS_CUI:C0266846 disease_ontology Dentin caries, NOS SNOMEDCT_2005_07_31:44828002 Dental caries extending into dentine ICD9CM_2006:521.02 Compound dental caries (disorder) SNOMEDCT_2005_07_31:50047001 diabetes mellitus juvenile type, uncontrolled, with neurological manifestations DOID:10469 Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations disease_ontology true Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations ICD9CM_2006:250.63 Mental disorder complicating pregnancy, childbirth, or the puerperium DOID:1046 DOID:1047 DOID:10663 DOID:10664 DOID:10665 DOID:12734 DOID:14128 DOID:9701 Mental disorder of mother, antepartum Mental disorder of mother, with delivery disease_ontology peripheral neuritis antepartum peripheral neuritis in pregnancy, with delivery peripheral neuritis postpartum postpartum edema or excessive weight gain postpartum mental disorder of mother true patellar tendinitis DOID:10471 ICD10CM:M76.5 ICD10CM:M76.50 ICD9CM:726.64 Patellar tendonitis (disorder) SNOMEDCT_US_2015_03_01:156662006 SNOMEDCT_US_2015_03_01:268089006 SNOMEDCT_US_2015_03_01:37785001 UMLS_CUI:C0158317 disease_ontology Patellar tendonitis (disorder) SNOMEDCT_2005_07_31:37785001 candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. Candidiasis of lung DOID:10472 disease_ontology true A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Candidiasis of lung ICD9CM_2006:112.4 wrist or carpus enthesopathy DOID:10473 Enthesopathy of the wrist and carpus (disorder) Enthesopathy of wrist and carpus Enthesopathy of wrist and/or carpus (disorder) Wrist or carpus enthesopathy NOS (disorder) disease_ontology true Enthesopathy of wrist and/or carpus (disorder) SNOMEDCT_2005_07_31:33439002 Enthesopathy of the wrist and carpus (disorder) SNOMEDCT_2005_07_31:202859000 Enthesopathy of wrist and carpus ICD9CM_2006:726.4 SNOMEDCT_2005_07_31:202860005 Wrist or carpus enthesopathy NOS (disorder) diaphragmatic eventration DOID:10480 ICD10CM:Q79.1 MSH:D003965 NCI:C98912 SNOMEDCT_US_2015_03_01:157006001 SNOMEDCT_US_2015_03_01:268351009 SNOMEDCT_US_2015_03_01:34168003 UMLS_CUI:C0011981 disease_ontology diaphragm disease A muscular disease that is located_in the diaphragm. DOID:10481 ICD10CM:J98.6 ICD9CM:519.4 SNOMEDCT_US_2015_03_01:196182001 SNOMEDCT_US_2015_03_01:48475001 UMLS_CUI:C0152097 disease_ontology A muscular disease that is located_in the diaphragm. url:http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm hypertonic, incoordinate, or prolonged uterine contractions DOID:10482 DOID:10483 DOID:11860 disease_ontology true esophageal atresia Congenital atresia of esophagus (disorder) Congenital imperforate esophagus DOID:10485 ICD10CM:Q39.0 Imperforate esophagus (disorder) MSH:D004933 NCI:C87072 Oesophageal atresia SNOMEDCT_US_2015_03_01:156947007 SNOMEDCT_US_2015_03_01:204656005 SNOMEDCT_US_2015_03_01:26179002 UMLS_CUI:C0014850 disease_ontology Congenital atresia of esophagus (disorder) SNOMEDCT_2005_07_31:26179002 Congenital imperforate esophagus MTHICD9_2006:750.3 Oesophageal atresia SNOMEDCT_2005_07_31:156947007 Imperforate esophagus (disorder) SNOMEDCT_2005_07_31:204656005 intestinal atresia DOID:10486 ICD10CM:Q41.1 MSH:D007409 NCI:C84790 UMLS_CUI:C0021828 disease_ontology Hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. DOID:10487 EFOpat_id:647 Hirschsprung disease ICD10CM:Q43.1 MSH:D006627 NCI:C34700 OMIM:142623 OMIM:202550 OMIM:600155 OMIM:613711 OMIM:613712 ORDO:388 SNOMEDCT_US_2015_03_01:156957008 SNOMEDCT_US_2015_03_01:204738000 SNOMEDCT_US_2015_03_01:204739008 SNOMEDCT_US_2015_03_01:204742002 SNOMEDCT_US_2015_03_01:204744001 SNOMEDCT_US_2015_03_01:360436002 SNOMEDCT_US_2015_03_01:367495003 SNOMEDCT_US_2015_03_01:6687001 UMLS_CUI:C0019569 Xref MGI. OMIM mapping confirmed by DO. [SN]. aganglionic megacolon congenital megacolon disease_ontology macrocolon pelvirectal achalasia total intestinal aganglionosis SNOMEDCT_2005_07_31:204744001 macrocolon NCI2004_11_17:C34700 aganglionic megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. url:http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/ url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease CSP2005:0724-7702 pelvirectal achalasia imperforate anus Congenital atresia of anus (disorder) [Ambiguous] Congenital or infantile occlusion of anus DOID:10488 ICD10CM:Q42.3 Imperforate anus Imperforate anus (disorder) Imperforate anus NOS (disorder) MSH:D001006 NCI:C84784 OMIM mapping confirmed by DO. [SN]. OMIM:207500 OMIM:301800 SNOMEDCT_US_2015_03_01:14118000 SNOMEDCT_US_2015_03_01:156956004 SNOMEDCT_US_2015_03_01:204712000 SNOMEDCT_US_2015_03_01:204731006 SNOMEDCT_US_2015_03_01:204733009 UMLS_CUI:C0003466 anal atresia (disorder) disease_ontology Congenital atresia of anus (disorder) [Ambiguous] SNOMEDCT_2005_07_31:14118000 Imperforate anus (disorder) SNOMEDCT_2005_07_31:204731006 Congenital or infantile occlusion of anus MTHICD9_2006:751.2 Imperforate anus NOS (disorder) SNOMEDCT_2005_07_31:204733009 Imperforate anus SNOMEDCT_2005_07_31:156956004 SNOMEDCT_2005_07_31:204712000 anal atresia (disorder) transient disorder of initiating or maintaining wakefulness DOID:10489 disease_ontology true adrenal cortical hypofunction Adrenal Cortical Insufficiency Adrenal cortical hypofunction (disorder) Corticoadrenal insufficiency Corticoadrenal insufficiency NOS Corticoadrenal insufficiency NOS (disorder) DOID:10493 ICD9CM:255.4 SNOMEDCT_US_2015_03_01:154707007 SNOMEDCT_US_2015_03_01:190527008 SNOMEDCT_US_2015_03_01:267398003 SNOMEDCT_US_2015_03_01:267483004 SNOMEDCT_US_2015_03_01:386584007 SNOMEDCT_US_2015_03_01:68588005 UMLS_CUI:C0405580 disease_ontology Adrenal cortical hypofunction (disorder) SNOMEDCT_2005_07_31:386584007 Adrenal cortical hypofunction (disorder) SNOMEDCT_2005_07_31:68588005 Corticoadrenal insufficiency SNOMEDCT_2005_07_31:154707007 Corticoadrenal insufficiency ICD9CM_2006:255.4 Adrenal Cortical Insufficiency NCI2004_11_17:C27150 Corticoadrenal insufficiency SNOMEDCT_2005_07_31:267483004 Corticoadrenal insufficiency NOS SNOMEDCT_2005_07_31:190527008 Corticoadrenal insufficiency NOS (disorder) SNOMEDCT_2005_07_31:267398003 pulmonary valve syphilitic endocarditis DOID:10494 Syphilitic endocarditis of pulmonary valve (disorder) disease_ontology true SNOMEDCT_2005_07_31:186878002 Syphilitic endocarditis of pulmonary valve (disorder) orbital granuloma DOID:10499 ICD10CM:H05.11 ICD9CM:376.11 NCI:C3653 SNOMEDCT_US_2015_03_01:194008000 SNOMEDCT_US_2015_03_01:72776003 UMLS_CUI:C0155262 disease_ontology orbital Granuloma orbital granuloma (disorder) NCI2004_11_17:C3653 orbital Granuloma SNOMEDCT_2005_07_31:72776003 orbital granuloma (disorder) menopausal and postmenopausal disorder DOID:10501 disease_ontology true generalized nonconvulsive epilepsy disease DOID:10504 DOID:10505 disease_ontology generalized nonconvulsive epilepsy with intractable epilepsy true Dressler's syndrome A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. DOID:10507 Dressler syndrome ICD10CM:I24.1 ICD9CM:411.0 Postmyocardial infarction syndrome Postmyocardial infarction syndrome (disorder) SNOMEDCT_US_2015_03_01:66189004 UMLS_CUI:C0152107 disease_ontology ICD9CM_2006:411.0 Postmyocardial infarction syndrome Postmyocardial infarction syndrome (disorder) SNOMEDCT_2005_07_31:66189004 A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. url:http://en.wikipedia.org/wiki/Dressler%27s_syndrome url:http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. Anthrax pneumonia (disorder) DOID:10508 Pneumonia in anthrax Woolsorters' pneumonia disease_ontology true SNOMEDCT_2005_07_31:11389007 Woolsorters' pneumonia ICD9CM_2006:484.5 Pneumonia in anthrax Anthrax pneumonia (disorder) SNOMEDCT_2005_07_31:195902009 A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. url:http://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm url:http://www.ncbi.nlm.nih.gov/pubmed/8460135 influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. DOID:10510 disease_ontology influenza pneumonia influenzal pneumonia true A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. url:http://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html url:http://en.wikipedia.org/wiki/Pneumonia malignant otitis externa A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. DOID:10516 ICD10CM:H60.2 ICD10CM:H60.20 ICD9CM:380.14 SNOMEDCT_US_2015_03_01:194206006 SNOMEDCT_US_2015_03_01:94146005 UMLS_CUI:C0155395 disease_ontology A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. url:http://www.merck.com/mmhe/sec19/ch219/ch219c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm beach ear A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. DOID:10518 ICD9CM:380.12 SNOMEDCT_US_2015_03_01:194201001 SNOMEDCT_US_2015_03_01:30250000 SNOMEDCT_US_2015_03_01:39149004 Tank ear UMLS_CUI:C0155393 acute bacterial inflammation of external ear (disorder) acute otitis externa, diffuse acute swimmer's ear acute swimmer's ear (disorder) acute swimmers' ear disease_ontology MTHICD9_2006:380.10 acute otitis externa, diffuse SNOMEDCT_2005_07_31:194201001 acute swimmer's ear (disorder) SNOMEDCT_2005_07_31:30250000 acute swimmer's ear MTHICD9_2006:380.12 Tank ear SNOMEDCT_2005_07_31:39149004 acute bacterial inflammation of external ear (disorder) ICD9CM_2006:380.12 acute swimmers' ear A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. url:http://en.wikipedia.org/wiki/Otitis_externa url:http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm chronic fungal otitis externa A otomycosis which is persistent and long-lasting or recurrent. DOID:10519 ICD9CM:380.15 SNOMEDCT_US_2015_03_01:111898002 SNOMEDCT_US_2015_03_01:194209004 UMLS_CUI:C0155396 chronic mycotic otitis externa chronic mycotic otitis externa (disorder) chronic mycotic otitis externa NOS (disorder) disease_ontology ICD9CM_2006:380.15 chronic mycotic otitis externa A otomycosis which is persistent and long-lasting or recurrent. url:http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf SNOMEDCT_2005_07_31:111898002 chronic mycotic otitis externa (disorder) SNOMEDCT_2005_07_31:194209004 chronic mycotic otitis externa NOS (disorder) acute infection of pinna A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. DOID:10520 ICD9CM:380.11 SNOMEDCT_US_2015_03_01:56663002 UMLS_CUI:C0155392 acute infection of pinna (disorder) disease_ontology SNOMEDCT_2005_07_31:56663002 acute infection of pinna (disorder) A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. url:http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false pinna disease DOID:10521 Unspecified disorder of pinna (disorder) disease_ontology disorder of pinna (disorder) disorder of pinna, unspecified true SNOMEDCT_2005_07_31:41663005 disorder of pinna (disorder) ICD9CM_2006:380.30 disorder of pinna, unspecified SNOMEDCT_2005_07_31:194226005 Unspecified disorder of pinna (disorder) double pterygium DOID:10525 Double pterygium (disorder) ICD9CM:372.44 SNOMEDCT_US_2015_03_01:193883003 SNOMEDCT_US_2015_03_01:41564009 UMLS_CUI:C0155157 disease_ontology Double pterygium (disorder) SNOMEDCT_2005_07_31:41564009 conjunctival pterygium DOID:10526 Pterygium Pterygium NOS (disorder) Pterygium, unspecified Unspecified pterygium (disorder) Web eye disease_ontology SNOMEDCT_2005_07_31:193879003 Unspecified pterygium (disorder) SNOMEDCT_2005_07_31:77489003 Web eye MTH:U000135 Pterygium Pterygium NOS (disorder) SNOMEDCT_2005_07_31:193884009 ICD9CM_2006:372.4 Pterygium Pterygium SNOMEDCT_2005_07_31:155165000 ICD9CM_2006:372.40 Pterygium, unspecified Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. DOID:10527 Haemophilus influenzae pneumonia (disorder) Pneumonia due to H. influenzae Pneumonia due to Hemophilus influenzae [H. influenzae] disease_ontology pneumonia due to hemophilus influenzae true Haemophilus influenzae pneumonia (disorder) SNOMEDCT_2005_07_31:70036007 MTHICD9_2006:482.2 Pneumonia due to H. influenzae ICD9CM_2006:482.2 Pneumonia due to Hemophilus influenzae [H. influenzae] A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. url:http://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false url:http://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf Haemophilus influenzae infectious disease DOID:10528 HEMOPHILUS INFLUENZA INFECTION Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder) Haemophilus influenzae infection (disorder) Haemophilus influenzae infection, unspecified (disorder) Hemophilus Influenza Infection disease_ontology true Hemophilus Influenza Infection NCI2004_11_17:C34655 Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder) SNOMEDCT_2005_07_31:187579008 Haemophilus influenzae infection, unspecified (disorder) SNOMEDCT_2005_07_31:187344007 Haemophilus influenzae infection (disorder) SNOMEDCT_2005_07_31:91428005 Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters SNOMEDCT_2005_07_31:186452000 HEMOPHILUS INFLUENZA INFECTION MTH:NOCODE primary Haemophilus infectious disease DOID:10529 Haemophilus infection (disorder) Hemophilus Infection disease_ontology true Hemophilus Infection NCI2004_11_17:C34654 Haemophilus infection (disorder) SNOMEDCT_2005_07_31:41659003 developmental dislocation of joint DOID:1052 DOID:1053 DOID:11114 DOID:11311 DOID:12032 DOID:12370 DOID:13332 DOID:13797 DOID:1710 Developmental dislocation of ankle and foot joint Developmental dislocation of forearm joint Developmental dislocation of hand joint Developmental dislocation of joint of multiple sites Developmental dislocation of joint of pelvic region and thigh Developmental dislocation of joint of shoulder region Developmental dislocation of lower leg joint Developmental dislocation of upper arm joint disease_ontology true pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. Chest infection - pneumococcal pneumonia DOID:10531 Lobar -pneumococcal -pneumonia Lobar pneumonia (disorder) Pneumococcal lobar pneumonia (disorder) Pneumococcal pneumonia (disorder) Pneumococcal pneumonia (disorder) [Ambiguous] Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia] Streptococcus pneumoniae pneumonia disease_ontology true Chest infection - pneumococcal pneumonia SNOMEDCT_2005_07_31:195884006 Pneumococcal lobar pneumonia (disorder) SNOMEDCT_2005_07_31:266350000 Lobar pneumonia (disorder) SNOMEDCT_2005_07_31:278516003 Lobar -pneumococcal -pneumonia SNOMEDCT_2005_07_31:266392005 Lobar -pneumococcal -pneumonia SNOMEDCT_2005_07_31:155550005 MTHICD9_2006:481 Streptococcus pneumoniae pneumonia Pneumococcal pneumonia (disorder) SNOMEDCT_2005_07_31:233607000 Pneumococcal pneumonia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:54339004 A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. url:http://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm ICD9CM_2006:481 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia] streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. DOID:10532 disease_ontology true A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. url:http://en.wikipedia.org/wiki/Streptococcus viral pneumonia A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. DOID:10533 DOID:13167 ICD10CM:J12.9 ICD9CM:480 ICD9CM:480.9 MSH:D011024 SNOMEDCT_US_2015_03_01:155549005 SNOMEDCT_US_2015_03_01:195880002 SNOMEDCT_US_2015_03_01:195883000 SNOMEDCT_US_2015_03_01:75570004 UMLS_CUI:C0032310 disease_ontology A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. url:http://en.wikipedia.org/wiki/Pneumonia stomach cancer A gastrointestinal system cancer that is located_in the stomach. Ca body - stomach Ca lesser curvature - stomach (disorder) DOID:10534 DOID:10539 DOID:10542 DOID:10543 DOID:4713 ICD10CM:C16 ICD10CM:C16.2 ICD10CM:C16.5 ICD10CM:C16.6 ICD10CM:C16.9 ICD9CM:151 ICD9CM:151.4 ICD9CM:151.5 ICD9CM:151.6 ICD9CM:151.9 MSH:D013274 NCI:C3387 NCI:C9331 OMIM mapping confirmed by DO. [SN]. OMIM:137215 OMIM:613659 SNOMEDCT_US_2015_03_01:126824007 SNOMEDCT_US_2015_03_01:154450001 SNOMEDCT_US_2015_03_01:154451002 SNOMEDCT_US_2015_03_01:154452009 SNOMEDCT_US_2015_03_01:154453004 SNOMEDCT_US_2015_03_01:187731004 SNOMEDCT_US_2015_03_01:187742008 SNOMEDCT_US_2015_03_01:187743003 SNOMEDCT_US_2015_03_01:187744009 SNOMEDCT_US_2015_03_01:187750004 SNOMEDCT_US_2015_03_01:255080008 SNOMEDCT_US_2015_03_01:269458007 SNOMEDCT_US_2015_03_01:269459004 SNOMEDCT_US_2015_03_01:269460009 SNOMEDCT_US_2015_03_01:269529007 SNOMEDCT_US_2015_03_01:269530002 SNOMEDCT_US_2015_03_01:269531003 SNOMEDCT_US_2015_03_01:269532005 SNOMEDCT_US_2015_03_01:363349007 SNOMEDCT_US_2015_03_01:93717002 SNOMEDCT_US_2015_03_01:93818001 SNOMEDCT_US_2015_03_01:93867004 SNOMEDCT_US_2015_03_01:94074003 UMLS_CUI:C0024623 UMLS_CUI:C0038356 UMLS_CUI:C0153421 UMLS_CUI:C0153422 UMLS_CUI:C0153423 ca greater curvature of stomach disease_ontology gastric neoplasm malignant neoplasm of body of stomach malignant neoplasm of lesser curve of stomach unspecified (disorder) malignant tumor of body of stomach (disorder) malignant tumor of greater curve of stomach (disorder) malignant tumor of lesser curve of stomach (disorder) Ca body - stomach SNOMEDCT_2005_07_31:154450001 SNOMEDCT_2005_07_31:269460009 malignant tumor of greater curve of stomach (disorder) CSP2005:2010-1611 NCI2004_11_17:C3387 SNOMEDCT_2005_07_31:187731004 gastric neoplasm SNOMEDCT_2005_07_31:187743003 malignant neoplasm of lesser curve of stomach unspecified (disorder) A gastrointestinal system cancer that is located_in the stomach. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Stomach Ca lesser curvature - stomach (disorder) SNOMEDCT_2005_07_31:269530002 SNOMEDCT_2005_07_31:187742008 malignant tumor of body of stomach (disorder) SNOMEDCT_2005_07_31:269459004 malignant tumor of lesser curve of stomach (disorder) coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. DOID:10535 disease_ontology true A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ malignant gastric granular cell tumor DOID:10536 NCI:C5484 UMLS_CUI:C1334585 disease_ontology malignant granular cell tumor of stomach NCI2004_11_17:C5484 malignant granular cell tumor of stomach recurrent malignant gastric neoplasm DOID:10537 disease_ontology true gastric fundus cancer Ca fundus - stomach Ca fundus - stomach (disorder) DOID:10538 ICD10CM:C16.1 ICD9CM:151.3 SNOMEDCT_US_2015_03_01:154449001 SNOMEDCT_US_2015_03_01:187741001 SNOMEDCT_US_2015_03_01:269528004 SNOMEDCT_US_2015_03_01:93809003 UMLS_CUI:C0153420 disease_ontology malignant neoplasm of fundus of stomach malignant tumor of fundus of stomach (disorder) Ca fundus - stomach SNOMEDCT_2005_07_31:154449001 ICD9CM_2006:151.3 malignant neoplasm of fundus of stomach SNOMEDCT_2005_07_31:93809003 malignant neoplasm of fundus of stomach SNOMEDCT_2005_07_31:187741001 malignant tumor of fundus of stomach (disorder) Ca fundus - stomach (disorder) SNOMEDCT_2005_07_31:269528004 glaucoma associated with chamber angle anomalies DOID:1054 Glaucoma associated with chamber angle anomalies (disorder) disease_ontology true Glaucoma associated with chamber angle anomalies (disorder) SNOMEDCT_2005_07_31:19039006 gastric lymphoma DOID:10540 Lymphoma of the stomach MSH:C535648 NCI:C4636 SNOMEDCT_US_2015_03_01:276811008 UMLS_CUI:C0349532 disease_ontology gastric lymphoma (disorder) Lymphoma of the stomach NCI2004_11_17:C4636 SNOMEDCT_2005_07_31:276811008 gastric lymphoma (disorder) microinvasive gastric cancer DOID:10541 NCI:C27131 SNOMEDCT_US_2015_03_01:276809004 Surface gastric cancer UMLS_CUI:C0349530 disease_ontology early gastric cancer (disorder) NCI2004_11_17:C27131 Surface gastric cancer SNOMEDCT_2005_07_31:276809004 early gastric cancer (disorder) pylorus cancer Ca pylorus - stomach Ca pylorus - stomach (disorder) DOID:10544 ICD10CM:C16.4 ICD9CM:151.1 SNOMEDCT_US_2015_03_01:154448009 SNOMEDCT_US_2015_03_01:187736009 SNOMEDCT_US_2015_03_01:187739002 SNOMEDCT_US_2015_03_01:269527009 UMLS_CUI:C0153418 disease_ontology malignant neoplasm of Prepylorus malignant neoplasm of pylorus of stomach NOS (disorder) malignant tumor of pylorus (disorder) Ca pylorus - stomach (disorder) SNOMEDCT_2005_07_31:269527009 MTHICD9_2006:151.1 malignant neoplasm of Prepylorus SNOMEDCT_2005_07_31:187739002 malignant neoplasm of pylorus of stomach NOS (disorder) SNOMEDCT_2005_07_31:187736009 malignant tumor of pylorus (disorder) Ca pylorus - stomach SNOMEDCT_2005_07_31:154448009 coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. DOID:10545 DOID:10546 disease_ontology true An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. url:http://en.wikipedia.org/wiki/Coxsackievirus pyloric antrum cancer DOID:10547 ICD10CM:C16.3 ICD9CM:151.2 SNOMEDCT_US_2015_03_01:187740000 SNOMEDCT_US_2015_03_01:93976007 UMLS_CUI:C0153419 disease_ontology malignant neoplasm of antrum of stomach NOS malignant tumor of pyloric antrum (disorder) MTHICD9_2006:151.2 malignant neoplasm of antrum of stomach NOS SNOMEDCT_2005_07_31:187740000 malignant tumor of pyloric antrum (disorder) cardia cancer Ca cardia - stomach DOID:10548 ICD10CM:C16.0 ICD9CM:151.0 SNOMEDCT_US_2015_03_01:154447004 SNOMEDCT_US_2015_03_01:187732006 SNOMEDCT_US_2015_03_01:187735008 SNOMEDCT_US_2015_03_01:269526000 SNOMEDCT_US_2015_03_01:93738008 UMLS_CUI:C0153417 disease_ontology malignant neoplasm of cardia of stomach SNOMEDCT_2005_07_31:93738008 malignant neoplasm of cardia of stomach Ca cardia - stomach SNOMEDCT_2005_07_31:154447004 diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations DOID:10549 Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations disease_ontology true Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations ICD9CM_2006:250.51 Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations MTHICD9_2006:250.51 glaucoma associated with congenital anomalies, dystrophies and systemic syndromes DOID:1055 Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes disease_ontology true Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes ICD9CM_2006:365.4 acute eustachian salpingitis A otosalpingitis with a sudden onset and a short course. DOID:10550 ICD10CM:H68.01 ICD10CM:H68.019 ICD9CM:381.51 SNOMEDCT_US_2015_03_01:13043002 SNOMEDCT_US_2015_03_01:194268005 UMLS_CUI:C0155429 acute eustachian salpingitis (disorder) acute eustachian tube salpingitis (disorder) disease_ontology A otosalpingitis with a sudden onset and a short course. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false SNOMEDCT_2005_07_31:13043002 acute eustachian salpingitis (disorder) SNOMEDCT_2005_07_31:194268005 acute eustachian tube salpingitis (disorder) cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. DOID:10551 Encephalitis due to acquired toxoplasmosis Meningoencephalitis due to acquired toxoplasmosis (disorder) Meningoencephalitis due to toxoplasmosis Toxoplasma encephalitis Toxoplasma encephalitis (disorder) disease_ontology true A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh Meningoencephalitis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:17949000 Encephalitis due to acquired toxoplasmosis MTHICD9_2006:130.0 SNOMEDCT_2005_07_31:187193005 Toxoplasma encephalitis ICD9CM_2006:130.0 Meningoencephalitis due to toxoplasmosis SNOMEDCT_2005_07_31:192701001 Toxoplasma encephalitis (disorder) meningoencephalitis A central nervous system disease that involves encephalitis which occurs along with meningitis. DOID:10554 ICD10CM:A69.22 ICD10CM:G04 MSH:D008590 Meningoencephalitis (disorder) NCI:C34813 SNOMEDCT_US_2015_03_01:7125002 UMLS_CUI:C0025309 disease_ontology A central nervous system disease that involves encephalitis which occurs along with meningitis. url:http://en.wikipedia.org/wiki/Encephalitis Meningoencephalitis (disorder) SNOMEDCT_2005_07_31:7125002 supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. DOID:10555 DOID:10556 DOID:12413 ICD9CM:669.20 UMLS_CUI:C0157456 antepartum maternal hypotension syndrome disease_ontology postpartum maternal hypotension syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. url:http://www.ncbi.nlm.nih.gov/pubmed/22537582 url:http://www.ncbi.nlm.nih.gov/pubmed/8164943 maternal distress DOID:10557 disease_ontology true oculocerebrorenal syndrome DOID:1056 ICD10CM:E72.03 LOWE OCULOCEREBRORENAL SYNDROME Lowe syndrome (disorder) MSH:D009800 NCI:C84940 OMIM mapping confirmed by DO. [SN]. OMIM:309000 SNOMEDCT_US_2015_03_01:79385002 UMLS_CUI:C0028860 disease_ontology oculocerebrorenal syndrome of Lowe CSP2005:1849-1861 oculocerebrorenal syndrome of Lowe Lowe syndrome (disorder) SNOMEDCT_2005_07_31:79385002 yaws hyperkeratosis DOID:10561 disease_ontology hyperkeratosis due to yaws hyperkeratosis of yaws (disorder) true SNOMEDCT_2005_07_31:53734002 hyperkeratosis of yaws (disorder) ICD9CM_2006:102.3 hyperkeratosis due to yaws SNOMEDCT_2005_07_31:186967009 hyperkeratosis due to yaws gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. DOID:10564 Gangosa Gangosa of yaws (disorder) Rhinopharyngitis mutilans disease_ontology true A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. url:http://en.wikipedia.org/wiki/Yaws Gangosa of yaws (disorder) SNOMEDCT_2005_07_31:24078009 MTHICD9_2006:102.5 Rhinopharyngitis mutilans Gangosa ICD9CM_2006:102.5 late yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. DOID:10370 DOID:10562 DOID:10567 Gummata and ulcers due to yaws Gummata of yaws ICD10CM:A66.1 ICD10CM:A66.4 ICD9CM:102.1 ICD9CM:102.4 NCI:C41354 SNOMEDCT_US_2015_03_01:186968004 SNOMEDCT_US_2015_03_01:22071004 SNOMEDCT_US_2015_03_01:57186002 SNOMEDCT_US_2015_03_01:68556002 SNOMEDCT_US_2015_03_01:69008006 UMLS_CUI:C0153234 UMLS_CUI:C0276007 UMLS_CUI:C1517744 Ulcers of yaws Yaws gummata and ulcers (disorder) disease_ontology gummatous frambeside multiple papillomata due to yaws and wet crab yaws nodular late yaws nodular late yaws (disorder) SNOMEDCT_2005_07_31:186968004 Yaws gummata and ulcers (disorder) Gummata and ulcers due to yaws ICD9CM_2006:102.4 SNOMEDCT_2005_07_31:57186002 Ulcers of yaws Gummata of yaws SNOMEDCT_2005_07_31:22071004 MTHICD9_2006:102.4 nodular late yaws SNOMEDCT_2005_07_31:69008006 nodular late yaws (disorder) A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. url:http://www.who.int/mediacentre/factsheets/fs316/en/ early yaws A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. DOID:10563 DOID:10565 DOID:10568 Frambesia, initial or primary ICD10CM:A66.0 ICD10CM:A66.6 ICD9CM:102.0 ICD9CM:102.6 Initial frambesial ulcer (disorder) Initial lesion of yaws (disorder) Initial lesions of yaws NCI:C41352 SNOMEDCT_US_2015_03_01:186969007 SNOMEDCT_US_2015_03_01:23191004 SNOMEDCT_US_2015_03_01:266147005 SNOMEDCT_US_2015_03_01:30283007 SNOMEDCT_US_2015_03_01:49442000 SNOMEDCT_US_2015_03_01:59227007 SNOMEDCT_US_2015_03_01:77912009 UMLS_CUI:C0275990 UMLS_CUI:C0275998 UMLS_CUI:C0343834 bone and joint lesions due to yaws bone and joint yaws lesion bone and joint yaws lesions (disorder) chancre of yaws disease_ontology early yaws (disorder) primary frambesia SNOMEDCT_2005_07_31:266147005 bone and joint yaws lesions (disorder) A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. url:http://www.who.int/mediacentre/factsheets/fs316/en/ ICD9CM_2006:102.6 bone and joint lesions due to yaws ICD9CM_2006:102.0 Initial lesions of yaws Frambesia, initial or primary MTHICD9_2006:102.0 Initial lesion of yaws (disorder) SNOMEDCT_2005_07_31:49442000 SNOMEDCT_2005_07_31:77912009 primary frambesia Initial frambesial ulcer (disorder) SNOMEDCT_2005_07_31:30283007 SNOMEDCT_2005_07_31:23191004 early yaws (disorder) myopathy of critical illness Critical illness myopathy DOID:10569 disease_ontology true Critical illness myopathy ICD9CM_2006:359.81 inborn amino acid transport disorder DOID:1057 disease_ontology true osteomalacia A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. DOID:10573 ICD9CM:268.2 MSH:D010018 NCI:C26838 NCI:C96867 SNOMEDCT_US_2015_03_01:154728003 SNOMEDCT_US_2015_03_01:190639009 SNOMEDCT_US_2015_03_01:190642003 SNOMEDCT_US_2015_03_01:4598005 UMLS_CUI:C0029442 disease_ontology A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. url:http://en.wikipedia.org/wiki/Osteomalacia url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx url:http://www.mayoclinic.com/health/osteomalacia/DS00935 url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm url:http://www.umm.edu/ency/article/000376.htm url:http://www.wheelessonline.com/ortho/osteomalacia vitamin D deficiency Avitaminosis D Avitaminosis D NOS (disorder) DOID:10574 Unspecified vitamin D deficiency deficiency of vitamin D (disorder) disease_ontology true vitamin D deficiency vitamin D deficiency (disorder) Avitaminosis D MTHICD9_2006:268.9 Avitaminosis D NOS (disorder) SNOMEDCT_2005_07_31:190649007 ICD9CM_2006:268.9 Unspecified vitamin D deficiency SNOMEDCT_2005_07_31:190639009 vitamin D deficiency SNOMEDCT_2005_07_31:34713006 vitamin D deficiency (disorder) SNOMEDCT_2005_07_31:124886009 deficiency of vitamin D (disorder) ICD9CM_2006:268 vitamin D deficiency CSP2005:2116-7610 vitamin D deficiency SNOMEDCT_2005_07_31:154728003 vitamin D deficiency calcium metabolism disease DOID:10575 ICD10CM:E83.5 ICD10CM:E83.50 ICD9CM:275.4 ICD9CM:275.40 MSH:D002128 SNOMEDCT_US_2015_03_01:190863003 SNOMEDCT_US_2015_03_01:190874007 SNOMEDCT_US_2015_03_01:267442002 SNOMEDCT_US_2015_03_01:71638002 UMLS_CUI:C0006705 disease_ontology leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain. DOID:10579 ICD9CM:330.0 NCI:C61253 SNOMEDCT_US_2015_03_01:192781003 SNOMEDCT_US_2015_03_01:192785007 SNOMEDCT_US_2015_03_01:5101009 UMLS_CUI:C0023520 disease_ontology A cerebral degeneration characterized by dysfunction of the white matter of the brain. url:http://en.wikipedia.org/wiki/Leukodystrophy amino acid transport disease DOID:1058 Disturbances of amino-acid transport disease_ontology true Disturbances of amino-acid transport ICD9CM_2006:270.0 metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. DOID:10581 ICD10CM:E75.25 ICD10CM:E75.29 MLD MSH:D007966 NCI:C61251 OMIM:249900 OMIM:250100 ORDO:512 SNOMEDCT_US_2015_03_01:192784006 SNOMEDCT_US_2015_03_01:3621006 SNOMEDCT_US_2015_03_01:396338004 SNOMEDCT_US_2015_03_01:44359008 Scholz cerebral sclerosis UMLS_CUI:C0023522 Xref MGI. OMIM mapping confirmed by DO. [SN]. arylsulfatase A deficiency deficiency of cerebroside-sulfatase disease_ontology sulfatide lipoidosis A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy CSP2005:1849-5593 sulfatide lipoidosis SNOMEDCT_2005_07_31:44359008 Scholz cerebral sclerosis Refsum disease DOID:10582 HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis ICD10CM:G60.1 ICD9CM:356.3 MSH:D012035 NCI:C85043 OMIM mapping confirmed by DO. [SN]. OMIM:266500 OMIM:266510 Refsum's disease SNOMEDCT_US_2015_03_01:25362006 UMLS_CUI:C0034960 disease_ontology Heredopathia atactica polyneuritiformis MTHICD9_2006:356.3 CSP2005:2042-7949 HMSN type IV HSMN IV SNOMEDCT_2005_07_31:25362006 ICD9CM_2006:356.3 Refsum's disease retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. DOID:10584 DOID:14742 ICD10CM:H35.52 MSH:C538365 MSH:D012174 NCI:C85045 OMIM:120970 OMIM:180100 OMIM:180104 OMIM:180105 OMIM:180210 OMIM:268000 OMIM:268025 OMIM:268060 OMIM:300029 OMIM:300424 OMIM:300605 OMIM:312600 OMIM:312612 OMIM:400004 OMIM:600059 OMIM:600105 OMIM:600132 OMIM:600138 OMIM:600852 OMIM:601414 OMIM:601718 OMIM:602594 OMIM:602772 OMIM:603809 OMIM:606068 OMIM:607921 OMIM:608133 OMIM:608380 OMIM:609913 OMIM:609923 OMIM:610282 OMIM:610359 OMIM:610599 OMIM:611131 OMIM:612095 OMIM:612165 OMIM:612572 OMIM:612712 OMIM:612943 OMIM:613194 OMIM:613428 OMIM:613464 OMIM:613575 OMIM:613581 OMIM:613582 OMIM:613617 OMIM:613731 OMIM:613750 OMIM:613756 OMIM:613758 OMIM:613767 OMIM:613769 OMIM:613794 OMIM:613801 OMIM:613810 OMIM:613827 OMIM:613861 OMIM:613862 OMIM:613983 OMIM:614180 OMIM:614181 OMIM:614494 OMIM:615233 OMIM:615434 OMIM:615565 OMIM:615725 OMIM:615780 OMIM:615922 ORDO:791 RP SNOMEDCT_US_2015_03_01:155113002 SNOMEDCT_US_2015_03_01:28835009 UMLS_CUI:C0035334 UMLS_CUI:C0220701 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology pericentral pigmentary retinopathy retinitis pigmentosa type 53 retinitis pigmentosa type 59 retinitis pigmentosa-1 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ CSP2005:1114-9526 RP hereditary and idiopathic peripheral neuropathy DOID:10585 disease_ontology true Krabbe disease DOID:10587 Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency (disorder) ICD10CM:E75.23 Krabbe's disease Krabbe's leukodystrophy MSH:D007965 NCI:C61254 OMIM mapping confirmed by DO. [SN]. OMIM:245200 SNOMEDCT_US_2015_03_01:189979005 SNOMEDCT_US_2015_03_01:192782005 SNOMEDCT_US_2015_03_01:5710006 UMLS_CUI:C0023521 beta galactocerebrosidase deficiency disease_ontology globoid cell leukodystrophy Galactosylceramide beta-galactosidase deficiency (disorder) SNOMEDCT_2005_07_31:192782005 Diffuse globoid body sclerosis SNOMEDCT_2005_07_31:189979005 CSP2005:1849-5536 beta galactocerebrosidase deficiency Krabbe's disease MTHICD9_2006:330.0 Krabbe's leukodystrophy SNOMEDCT_2005_07_31:5710006 adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. ALD Adrenoleukodystrophy Bronze Schilder disease DOID:10588 DOID:13451 Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's ICD10CM:E71.52 ICD10CM:E71.529 ICD10CM:G37.0 ICD9CM:341.1 MSH:C538676 MSH:D000326 MSH:D000326w added from NeuroDevNet [WAK]. MSH:D002549 NCI:C61252 NCI:C84670 OMIM:202370 OMIM:300100 SNOMEDCT_US_2015_03_01:155059003 SNOMEDCT_US_2015_03_01:192932009 SNOMEDCT_US_2015_03_01:267702006 SNOMEDCT_US_2015_03_01:44875002 SNOMEDCT_US_2015_03_01:49692006 SNOMEDCT_US_2015_03_01:65389002 SUDANOPHILIC CEREBRAL SCLEROSIS Schilder disease Schilder's disease Siemerling-Creutzfeldt Disease UMLS_CUI:C0007795 UMLS_CUI:C0162309 X-linked adrenoleukodystrophy diffuse cerebral sclerosis of Schilder diffuse sclerosis disease_ontology Adrenoleukodystrophy MSH:D000326 Encephalitis periaxialis concentrica SNOMEDCT_2005_07_31:44875002 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/ CSP2005:2042-2215 diffuse sclerosis ALD CSP2005:4001-0003 SNOMEDCT_2005_07_31:155059003 Schilder's disease Encephalitis periaxialis, Schilder's MTHICD9_2006:341.1 MTHICD9_2006:277.86 X-linked adrenoleukodystrophy intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. DOID:1059 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 MSH:D008607 NCI:C84392 OMIM mapping submitted by NeuroDevNet. [LS]. SNOMEDCT_US_2015_03_01:154978008 SNOMEDCT_US_2015_03_01:154979000 SNOMEDCT_US_2015_03_01:1855002 SNOMEDCT_US_2015_03_01:192157003 SNOMEDCT_US_2015_03_01:192557008 SNOMEDCT_US_2015_03_01:268732001 SNOMEDCT_US_2015_03_01:91138005 UMLS_CUI:C0025362 disease_ontology mental retardation A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. url:http://www.aamr.org/content_96.cfm?navID=20 url:http://www.google.com/url?sa=t&source=web&cd=9&ved=0CGEQFjAI&url=http%3A%2F%2Fwww.nichcy.org%2FDisabilities%2FSpecific%2FPages%2FIntellectualDisability.aspx&rct=j&q=%20Search%20Intellectual%20Disability%3A%20Definition%2C%20Classification%2C%20and%20Systems%20of%20Supports%20&ei=_Y7dTJ-JKoX7lweUy837DA&usg=AFQjCNHf5WD4JW8kvTc901MQ6AUr_mRPpQ&sig2=sV1yzHR9plpkHZMXYtd8iA&cad=rja url:http://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. DOID:10590 ICD9CM:642.40 UMLS_CUI:C0156664 disease_ontology A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. url:http://emedicine.medscape.com/article/1476919-overview pre-eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. DOID:10591 DOID:12684 ICD10CM:O13 ICD10CM:O14 ICD10CM:O14.9 ICD10CM:O14.90 MSH:D011225 MSH:D046110 NCI:C34943 NCI:C4371 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 SNOMEDCT_US_2015_03_01:15394000 SNOMEDCT_US_2015_03_01:156106005 SNOMEDCT_US_2015_03_01:156109003 SNOMEDCT_US_2015_03_01:156112000 SNOMEDCT_US_2015_03_01:198969004 SNOMEDCT_US_2015_03_01:198972006 SNOMEDCT_US_2015_03_01:198979002 SNOMEDCT_US_2015_03_01:199011002 SNOMEDCT_US_2015_03_01:237280005 SNOMEDCT_US_2015_03_01:267306006 SNOMEDCT_US_2015_03_01:267307002 SNOMEDCT_US_2015_03_01:288201007 SNOMEDCT_US_2015_03_01:30354006 SNOMEDCT_US_2015_03_01:308551004 SNOMEDCT_US_2015_03_01:398254007 SNOMEDCT_US_2015_03_01:46764007 SNOMEDCT_US_2015_03_01:48194001 SNOMEDCT_US_2015_03_01:6758009 UMLS_CUI:C0032914 UMLS_CUI:C0340274 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy CSP2005:2404-7447 pregnancy toxemia SNOMEDCT_2005_07_31:199011002 proteinuric hypertension of pregnancy SNOMEDCT_2005_07_31:46764007 pre-eclamptic toxaemia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. PMID:24400024 url:http://en.wikipedia.org/wiki/Pre-eclampsia url:http://ghr.nlm.nih.gov/condition/preeclampsia CSP2005:4001-0110 preeclampsia MTHICD9_2006:642.3 SNOMEDCT_2005_07_31:30354006 gestational hypertension SNOMEDCT_2005_07_31:156106005 toxaemia of pregnancy NCI2004_11_17:C4371 pregnancy associated hypertension idiopathic progressive polyneuropathy DOID:10593 ICD9CM:356.4 Idiopathic progressive polyneuropathy (disorder) SNOMEDCT_US_2015_03_01:193164007 SNOMEDCT_US_2015_03_01:33209009 UMLS_CUI:C0154756 disease_ontology Idiopathic progressive polyneuropathy (disorder) SNOMEDCT_2005_07_31:33209009 idiopathic neuropathy DOID:10594 Unspecified idiopathic peripheral neuropathy disease_ontology true ICD9CM_2006:356.9 Unspecified idiopathic peripheral neuropathy Charcot-Marie-Tooth disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. CMT - Charcot-Marie-Tooth disease Charcot Marie Tooth muscular atrophy DOID:10595 ICD10CM:G60.0 ICD9CM:356.1 MSH:D002607 NCI:C75467 Peroneal muscular atrophy SNOMEDCT_US_2015_03_01:128202008 SNOMEDCT_US_2015_03_01:193158000 SNOMEDCT_US_2015_03_01:193162006 SNOMEDCT_US_2015_03_01:50548001 UMLS_CUI:C0007959 disease_ontology A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. url:https://www.genome.gov/11009201 ICD9CM_2006:356.1 Peroneal muscular atrophy CMT - Charcot-Marie-Tooth disease SNOMEDCT_2005_07_31:193158000 CSP2005:2042-7637 Charcot Marie Tooth muscular atrophy gonococcal meningitis DOID:10597 Gonococcal meningitis (disorder) disease_ontology true Gonococcal meningitis (disorder) SNOMEDCT_2005_07_31:151004 pleural tuberculosis An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. DOID:106 DOID:12624 ICD10CM:A15.6 ICD9CM:010.1 ICD9CM:012.0 ICD9CM:012.00 MSH:D014396 NCI:C26898 Pearly disease (disorder) SNOMEDCT_US_2015_03_01:171699006 SNOMEDCT_US_2015_03_01:186172004 SNOMEDCT_US_2015_03_01:186182003 SNOMEDCT_US_2015_03_01:186183008 SNOMEDCT_US_2015_03_01:186186000 SNOMEDCT_US_2015_03_01:36379004 SNOMEDCT_US_2015_03_01:68706009 Tuberculosis of Pleura Tuberculosis of pleura Tuberculosis of pleura (disorder) Tuberculosis of pleura (disorder) [Ambiguous] Tuberculous pleurisy Tuberculous pleurisy NOS (disorder) Tuberculous pleurisy, unspecified examination Tuberculous pleuritis (disorder) UMLS_CUI:C0041326 UMLS_CUI:C0152531 disease_ontology tuberculous pleurisy in primary progressive tuberculosis NCI2004_11_17:C26898 Tuberculosis of Pleura SNOMEDCT_2005_07_31:186183008 Tuberculosis of pleura SNOMEDCT_2005_07_31:68706009 Tuberculosis of pleura (disorder) [Ambiguous] An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. url:http://www.ncbi.nlm.nih.gov/pubmed/17426219 SNOMEDCT_2005_07_31:171699006 Tuberculous pleuritis (disorder) MTHICD9_2006:012.0 Tuberculosis of pleura ICD9CM_2006:012.0 Tuberculous pleurisy Pearly disease (disorder) SNOMEDCT_2005_07_31:170713008 ICD9CM_2006:012.00 Tuberculous pleurisy, unspecified examination SNOMEDCT_2005_07_31:186186000 Tuberculous pleurisy NOS (disorder) SNOMEDCT_2005_07_31:186182003 Tuberculosis of pleura (disorder) Hartnup disease An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. DOID:1060 ICD10CM:E72.02 MSH:D006250 NCI:C84748 Neutral 1 amino acid transport defect (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:234500 SNOMEDCT_US_2015_03_01:124208000 SNOMEDCT_US_2015_03_01:80902009 UMLS_CUI:C0018609 deficiency of tryptophan oxygenase disease_ontology neutral amino acid transport defect CSP2005:1849-4235 neutral amino acid transport defect An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup SNOMEDCT_2005_07_31:124208000 deficiency of tryptophan oxygenase Neutral 1 amino acid transport defect (disorder) SNOMEDCT_2005_07_31:80902009 chronic tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. DOID:10600 ICD10CM:F95.1 ICD9CM:307.22 MSH:D013981 SNOMEDCT_US_2015_03_01:192623005 UMLS_CUI:C0008701 chronic motor or vocal tic disorder disease_ontology ICD9CM_2006:307.22 chronic motor or vocal tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. url:http://en.wikipedia.org/wiki/Tic_disorder steatorrhea DOID:10602 Fatty stool (finding) MSH:D045602 NCI:C86917 SNOMEDCT_US_2015_03_01:197489007 SNOMEDCT_US_2015_03_01:266481005 SNOMEDCT_US_2015_03_01:27868004 SNOMEDCT_US_2015_03_01:66187002 UMLS_CUI:C0038238 disease_ontology Fatty stool (finding) SNOMEDCT_2005_07_31:66187002 glucose intolerance DOID:10603 Glucose: [intolerance] or [malabsorption] ICD10CM:R73.09 MSH:D018149 Malabsorption of glucose (disorder) NCI:C34646 SNOMEDCT_US_2015_03_01:154720005 SNOMEDCT_US_2015_03_01:190752008 SNOMEDCT_US_2015_03_01:267426009 SNOMEDCT_US_2015_03_01:9414007 UMLS_CUI:C0271650 disease_ontology Malabsorption of glucose (disorder) SNOMEDCT_2005_07_31:267426009 Glucose: [intolerance] or [malabsorption] SNOMEDCT_2005_07_31:190752008 lactose intolerance DOID:10604 ICD10CM:E73 ICD10CM:E73.9 LM - Lactose malabsorption MSH:D007787 NCI:C3154 OMIM mapping confirmed by DO. [SN]. OMIM:223100 SNOMEDCT_US_2015_03_01:154736007 SNOMEDCT_US_2015_03_01:190750000 SNOMEDCT_US_2015_03_01:190757002 SNOMEDCT_US_2015_03_01:267425008 SNOMEDCT_US_2015_03_01:267497007 SNOMEDCT_US_2015_03_01:700094005 UMLS_CUI:C0022951 disease_ontology LM - Lactose malabsorption SNOMEDCT_2005_07_31:190757002 short bowel syndrome DOID:10605 MSH:D012778 NCI:C99059 SNOMEDCT_US_2015_03_01:204768009 SNOMEDCT_US_2015_03_01:235724004 SNOMEDCT_US_2015_03_01:26629001 UMLS_CUI:C0036992 acquired short bowel syndrome disease_ontology short gut syndrome SNOMEDCT_2005_07_31:235724004 acquired short bowel syndrome CSP2005:0724-8009 short gut syndrome blind loop syndrome An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. Bacterial overgrowth syndrome (disorder) Blind loop syndrome Blind loop syndrome (disorder) DOID:10606 ICD10CM:K90.2 ICD9CM:579.2 MSH:D001765 NCI:C34431 SNOMEDCT_US_2015_03_01:66379009 SNOMEDCT_US_2015_03_01:77225009 UMLS_CUI:C0005750 disease_ontology Bacterial overgrowth syndrome (disorder) SNOMEDCT_2005_07_31:66379009 An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. PMID:20572300 url:https://en.wikipedia.org/wiki/Blind_loop_syndrome Blind loop syndrome ICD9CM_2006:579.2 Blind loop syndrome (disorder) SNOMEDCT_2005_07_31:77225009 tropical sprue DOID:10607 ICD10CM:K90.1 ICD9CM:579.1 MSH:D013182 NCI:C45428 SNOMEDCT_US_2015_03_01:155846005 SNOMEDCT_US_2015_03_01:266547002 SNOMEDCT_US_2015_03_01:47384003 Sprue - tropical Tropical steatorrhea UMLS_CUI:C0038054 disease_ontology SNOMEDCT_2005_07_31:266547002 Sprue - tropical MTHICD9_2006:579.1 Tropical steatorrhea celiac disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. DOID:10608 EFO:0001060 ICD10CM:K90.0 ICD9CM:579.0 MSH:D002446 NCI:C26714 OMIM:212750 OMIM:607202 OMIM:609753 OMIM:609754 OMIM:609755 OMIM:611598 OMIM:612005 OMIM:612006 OMIM:612007 OMIM:612008 OMIM:612009 OMIM:612011 OMIM:612110 ORDO:555 SNOMEDCT_US_2015_03_01:155842007 SNOMEDCT_US_2015_03_01:197477005 SNOMEDCT_US_2015_03_01:197481005 SNOMEDCT_US_2015_03_01:23829007 SNOMEDCT_US_2015_03_01:266478000 SNOMEDCT_US_2015_03_01:396331005 UMLS_CUI:C0007570 Xref MGI. OMIM mapping confirmed by DO. [SN]. celiac sprue coeliac disease disease_ontology idiopathic steatorrhea SNOMEDCT_2005_07_31:155842007 coeliac disease CSP2005:1248-3893 celiac sprue MTHICD9_2006:579.0 idiopathic steatorrhea An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. url:http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/ url:http://en.wikipedia.org/wiki/Coeliac_disease url:http://www.celiac.org/ url:http://www.mayoclinic.com/health/celiac-disease/DS00319 url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm rickets A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. DOID:10609 DOID:11672 ICD10CM:E55.0 ICD9CM:268.0 MSH:D012279 NCI:C26878 OMIM:264700 OMIM:277440 OMIM:600081 OMIM:600785 ORDO:289157 SNOMEDCT_US_2015_03_01:154728003 SNOMEDCT_US_2015_03_01:190639009 SNOMEDCT_US_2015_03_01:190640006 SNOMEDCT_US_2015_03_01:41345002 SNOMEDCT_US_2015_03_01:68295002 UMLS_CUI:C0035579 UMLS_CUI:C0221468 Xref MGI. active rickets disease_ontology vitamin D hydroxylation-deficient rickets vitamin D-dependent rickets A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. url:http://emedicine.medscape.com/article/985510-overview url:http://en.wikipedia.org/wiki/Rickets url:http://www.mayoclinic.com/health/rickets/DS00813 url:http://www.ncbi.nlm.nih.gov/pubmed/26365554 url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm url:http://www.umm.edu/ency/article/000344.htm url:https://en.wikipedia.org/wiki/Rickets#Types SNOMEDCT_2005_07_31:190640006 active rickets renal aminoaciduria DOID:1061 disease_ontology inborn renal aminoaciduria true CSP2005:1849-1462 inborn renal aminoaciduria pancreatic steatorrhea DOID:10610 ICD10CM:K90.3 ICD9CM:579.4 SNOMEDCT_US_2015_03_01:155845009 SNOMEDCT_US_2015_03_01:197487009 SNOMEDCT_US_2015_03_01:54576000 UMLS_CUI:C0152166 disease_ontology pancreatic steatorrhea (disorder) pancreatic steatorrhea [dup] (disorder) pancreatic steatorrhoea SNOMEDCT_2005_07_31:54576000 pancreatic steatorrhea (disorder) SNOMEDCT_2005_07_31:197487009 pancreatic steatorrhea [dup] (disorder) SNOMEDCT_2005_07_31:155845009 pancreatic steatorrhoea protein-losing enteropathy DOID:10611 Enteropathy, exudative Exudative enteropathy (disorder) MSH:D011504 OMIM mapping confirmed by DO. [SN]. OMIM:226300 Protein-losing enteropathy (disorder) SNOMEDCT_US_2015_03_01:22542007 SNOMEDCT_US_2015_03_01:66972006 UMLS_CUI:C0033680 disease_ontology Enteropathy, exudative MTHICD9_2006:579.8 Exudative enteropathy (disorder) SNOMEDCT_2005_07_31:22542007 Protein-losing enteropathy (disorder) SNOMEDCT_2005_07_31:66972006 allergic urticaria Allergic urticaria (disorder) DOID:10612 ICD10CM:L50.0 ICD9CM:708.0 SNOMEDCT_US_2015_03_01:156428000 SNOMEDCT_US_2015_03_01:201260002 SNOMEDCT_US_2015_03_01:40178009 UMLS_CUI:C0149526 disease_ontology Allergic urticaria (disorder) SNOMEDCT_2005_07_31:40178009 acute gonococcal cervicitis DOID:10615 Gonococcal cervicitis (acute) ICD9CM:098.15 SNOMEDCT_US_2015_03_01:20943002 UMLS_CUI:C0153195 acute gonococcal cervicitis (disorder) acute gonorrhea of cervix disease_ontology SNOMEDCT_2005_07_31:20943002 acute gonococcal cervicitis (disorder) MTHICD9_2006:098.15 acute gonorrhea of cervix Gonococcal cervicitis (acute) ICD9CM_2006:098.15 acute cervicitis DOID:10616 NCI:C27056 SNOMEDCT_US_2015_03_01:19272000 UMLS_CUI:C0269061 acute cervicitis (disorder) disease_ontology SNOMEDCT_2005_07_31:19272000 acute cervicitis (disorder) lymph node cancer A lymphatic system cancer that is located_in the lymph node. DOID:10438 DOID:10619 NCI:C35497 SNOMEDCT_US_2015_03_01:127232002 UMLS_CUI:C0596869 disease_ontology lymph node neoplasm A lymphatic system cancer that is located_in the lymph node. url:http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer NCI2004_11_17:C35497 lymph node neoplasm Fanconi syndrome A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. Congenital Fanconi syndrome (disorder) DOID:1062 DOID:5956 De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis (disorder) Lignac-Fanconi syndrome MSH:D005198 NCI:C3034 NCI:C4377 OMIM:134600 OMIM:613388 OMIM:615605 ORDO:3337 SNOMEDCT_US_2015_03_01:236468006 SNOMEDCT_US_2015_03_01:40488004 SNOMEDCT_US_2015_03_01:44673006 UMLS_CUI:C0015624 UMLS_CUI:C0341703 Xref MGI. OMIM mapping confirmed by DO. [SN]. adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome disease_ontology Lignac-Fanconi syndrome SNOMEDCT_2005_07_31:367374009 CSP2005:1849-2203 deToni Fanconi syndrome Congenital Fanconi syndrome (disorder) SNOMEDCT_2005_07_31:236466005 Fanconi-de Toni syndrome MTHICD9_2006:270.0 De Toni-Fanconi syndrome SNOMEDCT_2005_07_31:111398009 Fanconi-de-Toni syndrome SNOMEDCT_2005_07_31:190683000 NCI2004_11_17:C4377 adult Fanconi Anemia A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. url:http://en.wikipedia.org/wiki/Fanconi_syndrome url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm Infantile nephropathic cystinosis (disorder) SNOMEDCT_2005_07_31:62332007 Fissure of nipple associated with childbirth DOID:10621 disease_ontology true insulin dependent type diabetes mellitus uncontrolled with ketoacidosis DOID:10626 Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis disease_ontology true type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis ICD9CM_2006:250.13 type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis MTHICD9_2006:250.13 primary optic atrophy DOID:10627 ICD10CM:H47.21 ICD9CM:377.11 SNOMEDCT_US_2015_03_01:21098003 UMLS_CUI:C0155291 disease_ontology primary optic atrophy (disorder) SNOMEDCT_2005_07_31:21098003 primary optic atrophy (disorder) microphthalmia An eye disease where one or both eyeballs are abnormally small. DOID:10629 DOID:10650 ICD10CM:Q11.2 ICD9CM:743.1 ICD9CM:743.10 ICD9CM:743.11 MSH:D008850 NCI:C98989 OMIM:206900 OMIM:300166 OMIM:309801 OMIM:600165 OMIM:601186 OMIM:607932 OMIM:609549 OMIM:610093 OMIM:610125 OMIM:611038 OMIM:611040 OMIM:611897 OMIM:613094 OMIM:613704 OMIM:615972 ORDO:35612 SNOMEDCT_US_2015_03_01:156902006 SNOMEDCT_US_2015_03_01:204104003 SNOMEDCT_US_2015_03_01:204107005 SNOMEDCT_US_2015_03_01:204108000 SNOMEDCT_US_2015_03_01:204110003 SNOMEDCT_US_2015_03_01:268310007 SNOMEDCT_US_2015_03_01:61142002 UMLS_CUI:C0026010 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology microphthalmos nanophthalmia nanophthalmos simple microphthalmos An eye disease where one or both eyeballs are abnormally small. url:http://en.wikipedia.org/wiki/Microphthalmia url:http://ghr.nlm.nih.gov/condition/microphthalmia interstitial nephritis DOID:1063 ICD10CM:N10-N16 ICD10CM:N12 ICD10CM:N15.9 MSH:D009395 NCI:C26834 SNOMEDCT_US_2015_03_01:198506002 SNOMEDCT_US_2015_03_01:264536006 SNOMEDCT_US_2015_03_01:28689008 UMLS_CUI:C0027707 disease_ontology renal tubulo-interstitial disease SNOMEDCT_2005_07_31:198506002 renal tubulo-interstitial disease optic atrophy associated with retinal dystrophy DOID:10630 disease_ontology optic atrophy associated with retinal dystrophies optic atrophy associated with retinal dystrophy (disorder) true ICD9CM_2006:377.13 optic atrophy associated with retinal dystrophies SNOMEDCT_2005_07_31:19448008 optic atrophy associated with retinal dystrophy (disorder) partial optic atrophy DOID:10631 ICD9CM:377.15 Partial optic atrophy (disorder) SNOMEDCT_US_2015_03_01:111527005 SNOMEDCT_US_2015_03_01:194044005 UMLS_CUI:C0155295 disease_ontology Partial optic atrophy (disorder) SNOMEDCT_2005_07_31:111527005 Wolfram syndrome An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). DIDMOAD DOID:10632 Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) MSH:D014929 NCI:C35133 OMIM mapping confirmed by DO. [LS]. OMIM:222300 OMIM:604928 SNOMEDCT_US_2015_03_01:70694009 UMLS_CUI:C0043207 disease_ontology Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) SNOMEDCT_2005_07_31:70694009 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). url:http://en.wikipedia.org/wiki/Wolfram_syndrome url:http://omim.org/entry/222300 cystinosis A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17. Cystine storage disease Cystinosis (disorder) Cystinosis (disorder) [Ambiguous] Cystinosis [dup] (disorder) DOID:1064 ICD10CM:E72.04 MSH:D003554 NCI:C2976 OMIM:219750 OMIM:219800 OMIM:219990 ORDO:213 SNOMEDCT_US_2015_03_01:111398009 SNOMEDCT_US_2015_03_01:190681003 SNOMEDCT_US_2015_03_01:190683000 SNOMEDCT_US_2015_03_01:367374009 SNOMEDCT_US_2015_03_01:62332007 UMLS_CUI:C2931187 cystine storage disease disease_ontology Cystinosis [dup] (disorder) SNOMEDCT_2005_07_31:367374009 Cystine storage disease SNOMEDCT_2005_07_31:190683000 Cystinosis (disorder) SNOMEDCT_2005_07_31:190681003 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17. PMID:12110740 url:http://ghr.nlm.nih.gov/condition/cystinosis url:https://en.wikipedia.org/wiki/Cystinosis CSP2005:1849-0607 cystine storage disease Cystinosis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:111398009 chronic state latent schizophrenia with acute exacerbation DOID:10645 disease_ontology true schizotypal personality disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. DOID:10646 ICD10CM:F21 ICD9CM:301.22 MSH:D012569 NCI:C92632 SNOMEDCT_US_2015_03_01:231486008 SNOMEDCT_US_2015_03_01:31027006 UMLS_CUI:C0036363 disease_ontology A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder acute inferoposterior infarction DOID:10648 ICD9CM:410.30 UMLS_CUI:C0155640 disease_ontology acute inferolateral myocardial infarction DOID:10649 ICD9CM:410.20 UMLS_CUI:C0155636 disease_ontology acute anterolateral myocardial infarction DOID:10651 ICD9CM:410.0 SNOMEDCT_US_2015_03_01:70211005 UMLS_CUI:C0155627 disease_ontology Alzheimer's disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability. AD Alzheimer disease Alzheimer disease, familial Alzheimers dementia DOID:10652 EFO:0000249 ICD10CM:G30 ICD10CM:G30.9 ICD9CM:331.0 KEGG:05010 MSH:D000544 NCI:C2866 OMIM:104300 OMIM:104310 OMIM:300756 OMIM:502500 OMIM:602096 OMIM:604154 OMIM:605526 OMIM:606187 OMIM:606889 OMIM:607116 OMIM:607822 OMIM:608907 OMIM:609636 OMIM:609790 OMIM:611073 OMIM:611152 OMIM:611154 OMIM:611155 OMIM:615080 OMIM:615590 OMIM:615711 SNOMEDCT_US_2015_03_01:154998003 SNOMEDCT_US_2015_03_01:267688001 SNOMEDCT_US_2015_03_01:26929004 SNOMEDCT_US_2015_03_01:73768007 UMLS_CUI:C0002395 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology Alzheimer disease, familial MSH:C536597 A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability. ls:IEDB url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet AD CSP2005:0485-6737 Alzheimers dementia NCI2004_11_17:C2866 lipoma of colon Colonic Lipoma DOID:10655 NCI:C5493 UMLS_CUI:C0940607 disease_ontology Colonic Lipoma NCI2004_11_17:C5493 colon leiomyoma Colonic leiomyoma DOID:10656 NCI:C5492 UMLS_CUI:C1333092 disease_ontology Colonic leiomyoma NCI2004_11_17:C5492 colonic lymphangioma Colonic Lymphangioma DOID:10657 Lymphangioma of colon NCI:C5500 UMLS_CUI:C1333094 disease_ontology Colonic Lymphangioma NCI2004_11_17:C5500 colonic ganglioneuroma DOID:10659 disease_ontology true residual stage of open angle glaucoma DOID:1066 ICD10CM:H40.15 ICD9CM:365.15 Open-angle glaucoma residual stage (disorder) Residual stage of open angle glaucoma (disorder) SNOMEDCT_US_2015_03_01:193542007 SNOMEDCT_US_2015_03_01:66990007 UMLS_CUI:C0154944 disease_ontology Open-angle glaucoma residual stage (disorder) SNOMEDCT_2005_07_31:193542007 Residual stage of open angle glaucoma (disorder) SNOMEDCT_2005_07_31:66990007 mediastinum neuroblastoma A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. DOID:10660 NCI:C6628 UMLS_CUI:C1334673 disease_ontology neuroblastoma of mediastinum NCI2004_11_17:C6628 neuroblastoma of mediastinum A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. url:http://www.cancer.gov/dictionary?CdrID=45418 mediastinum ganglioneuroblastoma DOID:10661 Ganglioneuroblastoma of mediastinum NCI:C6627 UMLS_CUI:C1334653 disease_ontology Ganglioneuroblastoma of mediastinum NCI2004_11_17:C6627 open-angle glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. DOID:1067 EFO:0004190 ICD10CM:H40.1 ICD10CM:H40.10 ICD10CM:H40.13 ICD9CM:365.1 ICD9CM:365.10 ICD9CM:365.13 MSH:D005902 NCI:C34641 OMIM:137750 OMIM:177700 OMIM:601682 OMIM:602429 OMIM:603383 OMIM:606689 OMIM:608695 OMIM:608696 OMIM:609745 OMIM:609887 OMIM:610535 OMIM:611274 OMIM:611276 OMIM:613100 SNOMEDCT_US_2015_03_01:111513000 SNOMEDCT_US_2015_03_01:193538009 SNOMEDCT_US_2015_03_01:193539001 SNOMEDCT_US_2015_03_01:193543002 SNOMEDCT_US_2015_03_01:46168003 SNOMEDCT_US_2015_03_01:84494001 UMLS_CUI:C0017612 Wide-angle glaucoma NOS Xref MGI. disease_ontology glaucoma simplex open angle glaucoma pigmentary glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. url:http://en.wikipedia.org/wiki/Glaucoma url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html MTHICD9_2006:365.10 Wide-angle glaucoma NOS SNOMEDCT_2005_07_31:111513000 glaucoma simplex ICD9CM_2006:365.13 SNOMEDCT_2005_07_31:193539001 pigmentary glaucoma NCI2004_11_17:C34641 open angle glaucoma juvenile glaucoma DOID:1068 Glaucoma of childhood Glaucoma of childhood (disorder) disease_ontology Glaucoma of childhood ICD9CM_2006:365.14 Glaucoma of childhood SNOMEDCT_2005_07_31:193541000 Glaucoma of childhood (disorder) SNOMEDCT_2005_07_31:71111008 separation anxiety disorder An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. DOID:10685 disease_ontology An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. url:http://en.wikipedia.org/wiki/Separation_anxiety_disorder lactocele DOID:10686 Galactocele ICD10CM:N64.89 ICD9CM:611.5 Lactocele (disorder) MSH:C535998 NCI:C3515 SNOMEDCT_US_2015_03_01:155966000 SNOMEDCT_US_2015_03_01:266647006 SNOMEDCT_US_2015_03_01:42385006 UMLS_CUI:C0152243 disease_ontology Lactocele (disorder) SNOMEDCT_2005_07_31:42385006 Galactocele NCI2004_11_17:C3515 Galactocele ICD9CM_2006:611.5 hypertrophy of breast DOID:10688 ICD10CM:N62 ICD9CM:611.1 NCI:C3125 SNOMEDCT_US_2015_03_01:155963008 SNOMEDCT_US_2015_03_01:198114003 SNOMEDCT_US_2015_03_01:266646002 SNOMEDCT_US_2015_03_01:372281005 SNOMEDCT_US_2015_03_01:43336006 UMLS_CUI:C0020565 breasts enlarged disease_ontology large breast SNOMEDCT_2005_07_31:248809000 large breast SNOMEDCT_2005_07_31:43336006 breasts enlarged galactorrhea not associated with childbirth DOID:10689 GALACTORRHEA Galactorrhea due to non-obstetric cause (disorder) Galactorrhea not associated with childbirth (disorder) Galactorrhoea disease_ontology true Galactorrhoea SNOMEDCT_2005_07_31:155965001 Galactorrhea due to non-obstetric cause (disorder) SNOMEDCT_2005_07_31:198115002 GALACTORRHEA MTH:NOCODE Galactorrhea not associated with childbirth (disorder) SNOMEDCT_2005_07_31:78622004 mastitis DOID:10690 Inflammatory breast disease Inflammatory disease of breast Inflammatory disorder of breast (disorder) MSH:D008413 SNOMEDCT_US_2015_03_01:155952005 SNOMEDCT_US_2015_03_01:155955007 SNOMEDCT_US_2015_03_01:198099006 SNOMEDCT_US_2015_03_01:266641007 SNOMEDCT_US_2015_03_01:266644004 SNOMEDCT_US_2015_03_01:45198002 UMLS_CUI:C0024894 breast inflammation NOS breast inflammation NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:266644004 breast inflammation NOS (disorder) Inflammatory breast disease SNOMEDCT_2005_07_31:198099006 SNOMEDCT_2005_07_31:155955007 breast inflammation NOS ICD9CM_2006:611.0 Inflammatory disease of breast Inflammatory disorder of breast (disorder) SNOMEDCT_2005_07_31:266579006 fat necrosis of breast DOID:10691 Fat necrosis of breast Fat necrosis of breast (disorder) ICD10CM:N64.1 ICD9CM:611.3 NCI:C3661 SNOMEDCT_US_2015_03_01:21381006 UMLS_CUI:C0156321 breast Fat necrosis disease_ontology NCI2004_11_17:C3661 breast Fat necrosis Fat necrosis of breast (disorder) SNOMEDCT_2005_07_31:21381006 Fat necrosis of breast ICD9CM_2006:611.3 chronic endophthalmitis DOID:10697 ICD9CM:360.03 SNOMEDCT_US_2015_03_01:13978000 SNOMEDCT_US_2015_03_01:193269007 UMLS_CUI:C0154774 chronic endophthalmitis (disorder) disease_ontology SNOMEDCT_2005_07_31:13978000 chronic endophthalmitis (disorder) paragonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. DOID:10699 ICD10CM:B66.4 ICD9CM:121.2 Infection by Paragonimus (disorder) MSH:D010237 NCI:C84995 SNOMEDCT_US_2015_03_01:240807004 SNOMEDCT_US_2015_03_01:240808009 SNOMEDCT_US_2015_03_01:30369007 UMLS_CUI:C0030424 disease_ontology lung fluke disease lung fluke infection pulmonary paragonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm SNOMEDCT_2005_07_31:240807004 lung fluke infection SNOMEDCT_2005_07_31:240808009 pulmonary paragonimiasis MTHICD9_2006:121.2 lung fluke disease Infection by Paragonimus (disorder) SNOMEDCT_2005_07_31:30369007 primary open angle glaucoma DOID:1070 ICD10CM:H40.11 ICD9CM:365.11 MSH:C562750 NCI:C35394 OMIM mapping confirmed by DO. [SN]. OMIM:137760 SNOMEDCT_US_2015_03_01:155122001 SNOMEDCT_US_2015_03_01:77075001 UMLS_CUI:C0339573 chronic simple glaucoma disease_ontology passive-aggressive personality disorder DOID:10708 Passive-aggressive personality disease_ontology passive-aggressive personality disorder true ICD9CM_2006:301.84 Passive-aggressive personality meningococcal septicemia DOID:10717 Meningococcal septicaemia Meningococcemia Meningococcemia (disorder) Meningococcemia, unspecified (disorder) disease_ontology true ICD9CM_2006:036.2 Meningococcemia Meningococcemia, unspecified (disorder) SNOMEDCT_2005_07_31:187326004 Meningococcal septicaemia SNOMEDCT_2005_07_31:154308000 Meningococcemia (disorder) SNOMEDCT_2005_07_31:4089001 giardiasis A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. DOID:10718 ICD10CM:A07.1 ICD9CM:007.1 Infection by Giardia lamblia MSH:D005873 SNOMEDCT_US_2015_03_01:10679007 SNOMEDCT_US_2015_03_01:154275004 SNOMEDCT_US_2015_03_01:186124000 SNOMEDCT_US_2015_03_01:266075009 SNOMEDCT_US_2015_03_01:266176008 SNOMEDCT_US_2015_03_01:58265007 UMLS_CUI:C0017536 beaver feaver disease_ontology Infection by Giardia lamblia MTHICD9_2006:007.1 A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. url:http://en.wikipedia.org/wiki/Giardiasis url:http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm toxic diffuse goiter DOID:10719 ICD9CM:242.00 UMLS_CUI:C0154138 disease_ontology renal hypertension DOID:1073 MSH:D006977 NCI:C3121 SNOMEDCT_US_2015_03_01:194775007 SNOMEDCT_US_2015_03_01:28119000 UMLS_CUI:C0020544 disease_ontology nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. DOID:10731 disease_ontology true A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. DOID:1074 ICD10CM:N19 ICD9CM:586 MSH:D051437 NCI:C4376 PRISM. SNOMEDCT_US_2015_03_01:156092003 SNOMEDCT_US_2015_03_01:197656003 SNOMEDCT_US_2015_03_01:198524000 SNOMEDCT_US_2015_03_01:266553002 SNOMEDCT_US_2015_03_01:266616000 SNOMEDCT_US_2015_03_01:42399005 UMLS_CUI:C0035078 disease_ontology renal failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. url:http://en.wikipedia.org/wiki/Renal_failure url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html SNOMEDCT_2005_07_31:198524000 renal failure cerebral lipidosis Cerebral lipidoses NOS (disorder) Cerebral lipidosis (disorder) DOID:10742 ICD9CM:330.1 SNOMEDCT_US_2015_03_01:16517004 SNOMEDCT_US_2015_03_01:192786008 SNOMEDCT_US_2015_03_01:192789001 UMLS_CUI:C0007788 disease_ontology Cerebral lipidoses NOS (disorder) SNOMEDCT_2005_07_31:192789001 Cerebral lipidosis (disorder) SNOMEDCT_2005_07_31:16517004 broad ligament malignant neoplasm DOID:10744 ICD10CM:C57.1 ICD9CM:183.3 SNOMEDCT_US_2015_03_01:188202001 SNOMEDCT_US_2015_03_01:449259009 SNOMEDCT_US_2015_03_01:93728003 UMLS_CUI:C0346866 disease_ontology malignant neoplasm of broad ligament of uterus ICD9CM_2006:183.3 malignant neoplasm of broad ligament of uterus lymphoid leukemia DOID:10747 ICD9CM:204.2 SNOMEDCT_US_2015_03_01:154590001 SNOMEDCT_US_2015_03_01:188726003 SNOMEDCT_US_2015_03_01:190035004 SNOMEDCT_US_2015_03_01:33560006 SNOMEDCT_US_2015_03_01:95274002 UMLS_CUI:C0152271 disease_ontology subacute lymphoid leukemia chronic pyelonephritis with lesion of renal medullary necrosis DOID:1075 disease_ontology true otitis media A otitis which involves inflammation of the middle ear. DOID:10754 ICD10CM:H66.9 ICD10CM:H66.90 ICD9CM:382.9 MSH:D010033 NCI:C34885 SNOMEDCT_US_2015_03_01:155222006 SNOMEDCT_US_2015_03_01:194291009 SNOMEDCT_US_2015_03_01:267669008 SNOMEDCT_US_2015_03_01:65363002 UMLS_CUI:C0029882 disease_ontology A otitis which involves inflammation of the middle ear. url:http://en.wikipedia.org/wiki/Otitis_media petrositis An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. DOID:10755 DOID:14013 DOID:14014 ICD10CM:H70.2 ICD10CM:H70.20 ICD10CM:H70.209 ICD10CM:H70.21 ICD10CM:H70.219 ICD10CM:H70.22 ICD10CM:H70.229 ICD9CM:383.2 ICD9CM:383.20 ICD9CM:383.21 ICD9CM:383.22 MSH:D059270 SNOMEDCT_US_2015_03_01:155233009 SNOMEDCT_US_2015_03_01:194300003 SNOMEDCT_US_2015_03_01:194301004 SNOMEDCT_US_2015_03_01:267760001 SNOMEDCT_US_2015_03_01:28593007 SNOMEDCT_US_2015_03_01:34997001 SNOMEDCT_US_2015_03_01:51211002 UMLS_CUI:C0155448 UMLS_CUI:C0155449 UMLS_CUI:C0155450 acute petrositis chronic petrositis disease_ontology inflammation of petrous bone An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. url:http://medical-dictionary.thefreedictionary.com/petrositis url:http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm chronic pyelonephritis DOID:1076 ICD10CM:N11 ICD10CM:N11.9 ICD9CM:590.0 SNOMEDCT_US_2015_03_01:123293005 SNOMEDCT_US_2015_03_01:155861006 SNOMEDCT_US_2015_03_01:197767009 SNOMEDCT_US_2015_03_01:266619007 SNOMEDCT_US_2015_03_01:63302006 UMLS_CUI:C0085697 disease_ontology choroidal rupture Choroidal rupture (disorder) DOID:10760 disease_ontology true Choroidal rupture (disorder) SNOMEDCT_2005_07_31:2532009 portal hypertension DOID:10762 ICD10CM:K76.6 ICD9CM:572.3 MSH:D006975 NCI:C3119 SNOMEDCT_US_2015_03_01:155821005 SNOMEDCT_US_2015_03_01:34742003 UMLS_CUI:C0020541 disease_ontology hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. DOID:10763 EFO:0000537 HTN High blood pressure (& [essential hypertension]) ICD10CM:I10 ICD10CM:I10-I15 ICD9CM:401-405.99 ICD9CM:997.91 MSH:D006973 NCI:C3117 SNOMEDCT_US_2015_03_01:155295004 SNOMEDCT_US_2015_03_01:155302005 SNOMEDCT_US_2015_03_01:194756002 SNOMEDCT_US_2015_03_01:194757006 SNOMEDCT_US_2015_03_01:194760004 SNOMEDCT_US_2015_03_01:194794002 SNOMEDCT_US_2015_03_01:195537001 SNOMEDCT_US_2015_03_01:266287006 SNOMEDCT_US_2015_03_01:38341003 UMLS_CUI:C0020538 disease_ontology hyperpiesia hypertensive disease vascular hypertensive disorder An artery disease characterized by chronic elevated blood pressure in the arteries. PMID:24352797 url:https://en.wikipedia.org/wiki/Hypertension NCI2004_11_17:C3117 vascular hypertensive disorder CSP2005:0571-5243 HTN CSP2005:4003-0017 hyperpiesia MTH:NOCODE hypertensive disease High blood pressure (& [essential hypertension]) SNOMEDCT_2005_07_31:194757006 liver abscess and sequelae of chronic liver disease DOID:10764 disease_ontology true Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. DOID:1077 DOID:11679 disease_ontology filarial infectious disease and dracontiasis true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. url:http://en.wikipedia.org/wiki/Spirurida thrombotic thrombocytopenic purpura DOID:10772 ICD10CM:M31.1 MSH:D011697 Moschcowitz's syndrome NCI:C78797 SNOMEDCT_US_2015_03_01:155443009 SNOMEDCT_US_2015_03_01:195358008 SNOMEDCT_US_2015_03_01:195359000 SNOMEDCT_US_2015_03_01:360402008 SNOMEDCT_US_2015_03_01:78129009 UMLS_CUI:C0034155 disease_ontology MTHICD9_2006:446.6 Moschcowitz's syndrome bubonic plague A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. Black death Bubonic plague Bubonic plague (disorder) DOID:10773 ICD10CM:A20.0 ICD9CM:020.0 MSH:D010930 SNOMEDCT_US_2015_03_01:50797007 SNOMEDCT_US_2015_03_01:58750007 UMLS_CUI:C0282312 black death disease_ontology CSP2005:0368-3331 black death A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area Black death SNOMEDCT_2005_07_31:58750007 Bubonic plague ICD9CM_2006:020.0 Bubonic plague (disorder) SNOMEDCT_2005_07_31:50797007 cutaneous plague DOID:10774 cellulocutaneous plague cellulocutaneous plague (disorder) disease_ontology true SNOMEDCT_2005_07_31:43484003 cellulocutaneous plague (disorder) ICD9CM_2006:020.1 cellulocutaneous plague fiedler's myocarditis DOID:10778 ICD10CM:I40.1 ICD9CM:422.91 Idiopathic myocarditis Isolated (Fiedler's) myocarditis SNOMEDCT_US_2015_03_01:194954007 SNOMEDCT_US_2015_03_01:194955008 SNOMEDCT_US_2015_03_01:266238009 SNOMEDCT_US_2015_03_01:91025000 UMLS_CUI:C0155689 disease_ontology fiedler myocarditis Isolated (Fiedler's) myocarditis SNOMEDCT_2005_07_31:194954007 ICD9CM_2006:422.91 Idiopathic myocarditis septic myocarditis DOID:10779 ICD10CM:I40.0 ICD9CM:422.92 SNOMEDCT_US_2015_03_01:194959002 SNOMEDCT_US_2015_03_01:64043005 Septic myocarditis NOS (disorder) Septic myocarditis, NOS UMLS_CUI:C0155690 disease_ontology SNOMEDCT_2005_07_31:64043005 Septic myocarditis, NOS SNOMEDCT_2005_07_31:194959002 Septic myocarditis NOS (disorder) Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. DOID:1078 DOID:4192 disease_ontology secernentea infectious disease true A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. url:http://en.wikipedia.org/wiki/Chromadoria primary polycythemia DOID:10780 Familiar Polycythemia ICD10CM:D75.0 ICD9CM:289.6 MSH:C536842 NCI:C26955 SNOMEDCT_US_2015_03_01:154840005 SNOMEDCT_US_2015_03_01:17342003 SNOMEDCT_US_2015_03_01:267571003 UMLS_CUI:C0152264 disease_ontology familial erythrocytosis Familiar Polycythemia NCI2004_11_17:C26955 mesenteric lymphadenitis DOID:10782 ICD10CM:I88.0 ICD9CM:289.2 MSH:D008640 Mesenteric adenitis Mesenteric lymphadenitis Mesenteric lymphadenitis (disorder) NCI:C26830 SNOMEDCT_US_2015_03_01:154837005 SNOMEDCT_US_2015_03_01:191376006 SNOMEDCT_US_2015_03_01:191378007 SNOMEDCT_US_2015_03_01:267548000 SNOMEDCT_US_2015_03_01:44897000 UMLS_CUI:C0025469 disease_ontology MTHICD9_2006:289.2 Mesenteric lymphadenitis Mesenteric adenitis SNOMEDCT_2005_07_31:191376006 Mesenteric adenitis SNOMEDCT_2005_07_31:154837005 Mesenteric lymphadenitis (disorder) SNOMEDCT_2005_07_31:44897000 methemoglobinemia DOID:10783 ICD10CM:D74 ICD10CM:D74.9 ICD9CM:289.7 MSH:D008708 NCI:C34817 SNOMEDCT_US_2015_03_01:124965005 SNOMEDCT_US_2015_03_01:131171006 SNOMEDCT_US_2015_03_01:191386007 SNOMEDCT_US_2015_03_01:191393006 SNOMEDCT_US_2015_03_01:267549008 SNOMEDCT_US_2015_03_01:38959009 UMLS_CUI:C0025637 disease_ontology Queensland tick typhus A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. Australian tick typhus DOID:0050038 DOID:10784 North Queensland tick typhus Queensland tick typhus (disorder) Rickettsia australis spotted fever disease_ontology Queensland tick typhus (disorder) SNOMEDCT_2005_07_31:68981009 A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html premature menopause DOID:10787 ICD10CM:E28.31 ICD10CM:E28.319 ICD9CM:256.31 MSH:D008594 Menopause - premature Menopause praecox (qualifier value) NCI:C80099 Premature menopause Premature menopause (finding) Premature menopause NOS Premature menopause NOS (qualifier value) SNOMEDCT_US_2015_03_01:154713003 SNOMEDCT_US_2015_03_01:190544007 SNOMEDCT_US_2015_03_01:237789005 SNOMEDCT_US_2015_03_01:267486007 SNOMEDCT_US_2015_03_01:373717006 SNOMEDCT_US_2015_03_01:74296006 UMLS_CUI:C0025322 disease_ontology Menopause praecox (qualifier value) SNOMEDCT_2005_07_31:74296006 ICD9CM_2006:256.31 Premature menopause Menopause - premature SNOMEDCT_2005_07_31:267486007 MTHICD9_2006:256.3 Premature menopause NOS Premature menopause NOS SNOMEDCT_2005_07_31:190544007 Premature menopause NOS (qualifier value) SNOMEDCT_2005_07_31:237789005 Menopause - premature SNOMEDCT_2005_07_31:154713003 Premature menopause (finding) SNOMEDCT_2005_07_31:373717006 osteitis condensans DOID:10788 Focal sclerosing osteomyelitis Sclerosing osteitis disease_ontology true SNOMEDCT_2005_07_31:54691007 Sclerosing osteitis Focal sclerosing osteomyelitis SNOMEDCT_2005_07_31:55413008 setariasis A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. DOID:1079 Infectious Disease by Setaria (disorder) MSH:D012719 SNOMEDCT_US_2015_03_01:4414005 UMLS_CUI:C0036850 disease_ontology A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. url:http://www.jstor.org/stable/pdfplus/3277411.pdf Infectious Disease by Setaria (disorder) SNOMEDCT_2005_07_31:4414005 chronic frontal sinusitis A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. DOID:10790 ICD10CM:J32.1 ICD9CM:473.1 NCI:C34473 SNOMEDCT_US_2015_03_01:155527004 SNOMEDCT_US_2015_03_01:195786002 SNOMEDCT_US_2015_03_01:60130002 UMLS_CUI:C0008683 disease_ontology A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm frontal sinusitis A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. DOID:10791 Frontal sinusitis Frontal sinusitis (& chronic) Frontal sinusitis (disorder) ICD10CM:J32.1 MSH:D015522 NCI:C34626 SNOMEDCT_US_2015_03_01:195786002 SNOMEDCT_US_2015_03_01:275485006 SNOMEDCT_US_2015_03_01:78737005 UMLS_CUI:C0016735 disease_ontology A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm Frontal sinusitis (& chronic) SNOMEDCT_2005_07_31:195786002 Frontal sinusitis SNOMEDCT_2005_07_31:275485006 Frontal sinusitis (disorder) SNOMEDCT_2005_07_31:78737005 chronic maxillary sinusitis (maxillary sinusitis) or (chronic antritis) A maxillary sinusitis which lasts for 12 weeks or more. DOID:10792 ICD10CM:J32.0 ICD9CM:473.0 NCI:C34477 SNOMEDCT_US_2015_03_01:155526008 SNOMEDCT_US_2015_03_01:195785003 SNOMEDCT_US_2015_03_01:35923002 SNOMEDCT_US_2015_03_01:8299006 UMLS_CUI:C0008698 chronic antritis disease_ontology A maxillary sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm SNOMEDCT_2005_07_31:8299006 chronic antritis (maxillary sinusitis) or (chronic antritis) SNOMEDCT_2005_07_31:195785003 chronic sphenoidal sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. DOID:10793 ICD10CM:J32.3 ICD9CM:473.3 NCI:C34480 SNOMEDCT_US_2015_03_01:155528009 SNOMEDCT_US_2015_03_01:266384001 SNOMEDCT_US_2015_03_01:38961000 Sphenoidal sinus-chr. UMLS_CUI:C0008712 disease_ontology SNOMEDCT_2005_07_31:266384001 Sphenoidal sinus-chr. A sphenoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis sphenoid sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. DOID:10794 ICD10CM:J32.3 MSH:D015524 NCI:C35031 SNOMEDCT_US_2015_03_01:13266007 Sphenoidal sinusitis Sphenoidal sinusitis (disorder) UMLS_CUI:C0037886 disease_ontology NCI2004_11_17:C35031 Sphenoidal sinusitis SNOMEDCT_2005_07_31:13266007 Sphenoidal sinusitis (disorder) A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. url:http://en.wikipedia.org/wiki/sinusitis congenital syphilitic encephalitis Congenital syphilitic encephalitis (disorder) DOID:10795 Encephalitis due to congenital syphilis disease_ontology true Congenital syphilitic encephalitis (disorder) SNOMEDCT_2005_07_31:32735002 Encephalitis due to congenital syphilis SNOMEDCT_2005_07_31:192699001 filariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. DOID:1080 ICD10CM:B74 ICD10CM:B74.9 ICD9CM:125.9 MSH:D005368 NCI:C34611 SNOMEDCT_US_2015_03_01:105706003 SNOMEDCT_US_2015_03_01:187161002 SNOMEDCT_US_2015_03_01:187532008 SNOMEDCT_US_2015_03_01:50342004 UMLS_CUI:C0016085 disease due to superfamily Filarioidea (disorder) disease_ontology SNOMEDCT_2005_07_31:105706003 disease due to superfamily Filarioidea (disorder) A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. url:http://en.wikipedia.org/wiki/Filariasis acute gonococcal epididymo-orchitis DOID:10802 Gonococcal epididymo-orchitis (acute) ICD9CM:098.13 SNOMEDCT_US_2015_03_01:186912008 SNOMEDCT_US_2015_03_01:30168008 UMLS_CUI:C0153193 acute gonococcal epididymo-orchitis (disorder) disease_ontology Gonococcal epididymo-orchitis (acute) ICD9CM_2006:098.13 SNOMEDCT_2005_07_31:30168008 acute gonococcal epididymo-orchitis (disorder) Haemophilus influenzae meningitis DOID:10803 Haemophilus meningitis (disorder) Hemophilus meningitis disease_ontology true Haemophilus meningitis (disorder) SNOMEDCT_2005_07_31:192643004 Hemophilus meningitis ICD9CM_2006:320.0 gastric ulcer DOID:10807 DOID:10808 DOID:10809 DOID:12047 DOID:12057 DOID:12068 DOID:12069 DOID:12806 DOID:13124 DOID:13125 DOID:241 DOID:242 ICD10CM:K25 ICD9CM:531 MSH:D013276 NCI:C3388 SNOMEDCT_US_2015_03_01:155681009 SNOMEDCT_US_2015_03_01:155690002 SNOMEDCT_US_2015_03_01:196627009 SNOMEDCT_US_2015_03_01:196642007 SNOMEDCT_US_2015_03_01:196649003 SNOMEDCT_US_2015_03_01:196650003 SNOMEDCT_US_2015_03_01:266436006 SNOMEDCT_US_2015_03_01:397825006 SNOMEDCT_US_2015_03_01:6034002 UMLS_CUI:C0038358 acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND obstruction (disorder) acute gastric ulcer with hemorrhage AND perforation acute gastric ulcer with hemorrhage AND perforation (disorder) acute gastric ulcer with hemorrhage AND perforation [dup] (disorder) acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder) acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder) acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation AND obstruction (disorder) acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder) acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder) chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction disease_ontology ICD9CM_2006:531.01 acute gastric ulcer with hemorrhage, with obstruction ICD9CM_2006:531.20 acute gastric ulcer with hemorrhage and perforation, without mention of obstruction ICD9CM_2006:531.11 acute gastric ulcer with perforation, with obstruction SNOMEDCT_2005_07_31:48974009 acute gastric ulcer with hemorrhage AND perforation (disorder) SNOMEDCT_2005_07_31:196631003 acute gastric ulcer with hemorrhage AND perforation [dup] (disorder) SNOMEDCT_2005_07_31:17067009 acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder) SNOMEDCT_2005_07_31:53337006 acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder) SNOMEDCT_2005_07_31:60531007 chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder) ICD9CM_2006:531.2 acute gastric ulcer with hemorrhage and perforation ICD9CM_2006:531.30 acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction SNOMEDCT_2005_07_31:54053008 acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder) SNOMEDCT_2005_07_31:155684001 acute gastric ulcer with haemorrhage and perforation SNOMEDCT_2005_07_31:46708007 acute gastric ulcer with hemorrhage AND obstruction (disorder) ICD9CM_2006:531.71 chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction SNOMEDCT_2005_07_31:43694004 acute gastric ulcer with perforation AND obstruction (disorder) mansonelliasis A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. DOID:1081 ICD10CM:B74.4 MSH:D008368 Mansonelliasis (disorder) NCI:C84882 SNOMEDCT_US_2015_03_01:240849009 UMLS_CUI:C0024759 disease_ontology Mansonelliasis (disorder) SNOMEDCT_2005_07_31:240849009 A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. url:http://en.wikipedia.org/wiki/Mansonelliasis tibialis tendinitis DOID:10810 ICD9CM:726.72 SNOMEDCT_US_2015_03_01:50127006 Tibialis tendinitis (disorder) UMLS_CUI:C0158321 disease_ontology SNOMEDCT_2005_07_31:50127006 Tibialis tendinitis (disorder) nasal cavity cancer A respiratory system cancer that is located_in the nasal cavity. DOID:10811 ICD10CM:C30.0 ICD9CM:160.0 NCI:C4918 SNOMEDCT_US_2015_03_01:187832001 SNOMEDCT_US_2015_03_01:363422006 SNOMEDCT_US_2015_03_01:93917007 UMLS_CUI:C0728864 disease_ontology malignant neoplasm of nasal cavities malignant tumor of the nasal cavity ICD9CM_2006:160.0 malignant neoplasm of nasal cavities NCI2004_11_17:C4918 malignant tumor of the nasal cavity A respiratory system cancer that is located_in the nasal cavity. url:http://en.wikipedia.org/wiki/Nasal_cavity nasal cavity olfactory neuroblastoma DOID:10812 NCI:C7604 Olfactory neuroblastoma of the nasal cavity UMLS_CUI:C1334923 disease_ontology NCI2004_11_17:C7604 Olfactory neuroblastoma of the nasal cavity nasal cavity lymphoma DOID:10813 Lymphoma of the nasal cavity NCI:C6074 UMLS_CUI:C1334921 disease_ontology lymphoma of nasal cavity Lymphoma of the nasal cavity NCI2004_11_17:C6074 recurrent duodenal cancer DOID:10815 disease_ontology recurrent malignant Duodenal neoplasm true NCI2004_11_17:C9263 recurrent malignant Duodenal neoplasm duodenum adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. DOID:10816 Duodenal adenocarcinoma NCI:C7889 SNOMEDCT_US_2015_03_01:408644002 UMLS_CUI:C0278804 adenocarcinoma of duodenum adenocarcinoma of duodenum (disorder) disease_ontology Duodenal adenocarcinoma NCI2004_11_17:C7889 A duodenum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:408644002 adenocarcinoma of duodenum (disorder) sexual sadism DOID:10817 ICD10CM:F65.52 ICD9CM:302.84 MSH:D012448 NCI:C94358 SNOMEDCT_US_2015_03_01:59394009 UMLS_CUI:C0036913 disease_ontology leptospiral meningitis Aseptic leptospiral meningitis Aseptic leptospiral meningitis (disorder) DOID:10818 Leptospiral meningitis (aseptic) Leptospiral meningitis (disorder) disease_ontology true Aseptic leptospiral meningitis (disorder) SNOMEDCT_2005_07_31:25957002 ICD9CM_2006:100.81 Leptospiral meningitis (aseptic) Leptospiral meningitis (disorder) SNOMEDCT_2005_07_31:186956008 Aseptic leptospiral meningitis MTHICD9_2006:100.81 dirofilariasis A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. DOID:1082 Dirofilaria infectious disease ICD10CM:B74.8 Infection by Dirofilaria (disorder) MSH:D004184 SNOMEDCT_US_2015_03_01:73328005 UMLS_CUI:C0012602 disease_ontology Infection by Dirofilaria (disorder) SNOMEDCT_2005_07_31:73328005 A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. url:http://emedicine.medscape.com/article/236698-overview Dirofilaria infectious disease MTHICD9_2006:125.6 malignant essential hypertension Accelerated essential hypertension DOID:10823 ICD9CM:401.0 NCI:C34802 SNOMEDCT_US_2015_03_01:1218009 SNOMEDCT_US_2015_03_01:78975002 UMLS_CUI:C0024588 disease_ontology malignant Essential hypertension malignant essential hypertension (disorder) NCI2004_11_17:C34802 malignant Essential hypertension Accelerated essential hypertension SNOMEDCT_2005_07_31:1218009 SNOMEDCT_2005_07_31:78975002 malignant essential hypertension (disorder) malignant hypertension DOID:10824 MSH:D006974 NCI:C3118 SNOMEDCT_US_2015_03_01:155301003 SNOMEDCT_US_2015_03_01:286951002 SNOMEDCT_US_2015_03_01:70272006 UMLS_CUI:C0020540 disease_ontology essential hypertension A hypertension with no known cause. It is the most common type of hypertension. DOID:10825 ICD10CM:I10 ICD9CM:401 MSH:C562386 NCI:C3478 OMIM:145500 OMIM:603918 OMIM:604329 OMIM:607329 OMIM:608742 OMIM:610261 OMIM:610262 OMIM:610948 OMIM:611014 ORDO:243761 SNOMEDCT_US_2015_03_01:155296003 SNOMEDCT_US_2015_03_01:194757006 SNOMEDCT_US_2015_03_01:194760004 SNOMEDCT_US_2015_03_01:266228004 SNOMEDCT_US_2015_03_01:59621000 UMLS_CUI:C0085580 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology idiopathic hypertension primary hypertension A hypertension with no known cause. It is the most common type of hypertension. url:http://en.wikipedia.org/wiki/Essential_hypertension url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html NCI2004_11_17:C3478 primary hypertension CSP2005:4003-0017 idiopathic hypertension gender identity disorder in adolescent or adult DOID:10827 disease_ontology true voyeurism DOID:10834 ICD10CM:F65.3 ICD9CM:302.82 MSH:D014843 NCI:C94360 SNOMEDCT_US_2015_03_01:192515002 SNOMEDCT_US_2015_03_01:63835008 UMLS_CUI:C0042979 disease_ontology chylocele of tunica vaginalis Chylocele of tunica vaginalis (disorder) DOID:10835 ICD9CM:608.84 SNOMEDCT_US_2015_03_01:7864001 UMLS_CUI:C0156315 disease_ontology Chylocele of tunica vaginalis (disorder) SNOMEDCT_2005_07_31:7864001 diabetes mellitus with hyperosmolarity DOID:10836 disease_ontology true diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled DOID:10837 Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled disease_ontology true Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled MTHICD9_2006:250.21 Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled ICD9CM_2006:250.21 diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled DOID:10838 Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled disease_ontology true Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled MTHICD9_2006:250.23 Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled ICD9CM_2006:250.23 Eastern equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. DOID:10841 EEE ICD10CM:A83.2 ICD9CM:062.2 MSH:D020242 Neuroinvasive Eastern equine encephalitis virus infection SNOMEDCT_US_2015_03_01:40177004 SNOMEDCT_US_2015_03_01:416925005 SNOMEDCT_US_2015_03_01:417496004 UMLS_CUI:C0153065 disease_ontology A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. url:http://www.cdc.gov/EasternEquineEncephalitis/index.html url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.ncagr.gov/vet/FactSheets/EEE.htm Neuroinvasive Eastern equine encephalitis virus infection SNOMEDCT_2005_07_31:417496004 Murray Valley encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. Australian X disease Australian encephalitis DOID:10842 ICD10CM:A83.4 ICD9CM:062.4 SNOMEDCT_US_2015_03_01:66454007 UMLS_CUI:C0153066 disease_ontology A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. url:http://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm url:http://www.ncbi.nlm.nih.gov/pubmed/13007862 Australian X disease MTHICD9_2006:062.4 Australian encephalitis ICD9CM_2006:062.4 Western equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. DOID:10843 ICD10CM:A83.1 ICD9CM:062.1 MSH:D020241 NCI:C85227 SNOMEDCT_US_2015_03_01:47523006 UMLS_CUI:C0153064 WEE disease_ontology A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm Japanese encephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. DOID:10844 ICD10CM:A83.0 ICD9CM:062.0 Japanese B encephalitis MSH:D004672 NCI:C34577 SNOMEDCT_US_2015_03_01:154345006 SNOMEDCT_US_2015_03_01:266194002 SNOMEDCT_US_2015_03_01:52947006 UMLS_CUI:C0014057 disease_ontology A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm Japanese B encephalitis MTHICD9_2006:062.0 St. Louis encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. DOID:10845 ICD10CM:A83.3 ICD9CM:062.3 MSH:D004674 Neuroinvasive St. Louis encephalitis virus infection SNOMEDCT_US_2015_03_01:10429004 SNOMEDCT_US_2015_03_01:417192005 SNOMEDCT_US_2015_03_01:417607009 UMLS_CUI:C0014060 disease_ontology Neuroinvasive St. Louis encephalitis virus infection SNOMEDCT_2005_07_31:417607009 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html angiodysplasia of intestine DOID:10846 ICD9CM:569.84 SNOMEDCT_US_2015_03_01:235853006 SNOMEDCT_US_2015_03_01:32868004 UMLS_CUI:C0267367 disease_ontology intrauterine hypoxia and birth asphyxia DOID:10848 disease_ontology true sexual masochism DOID:10849 ICD10CM:F65.51 ICD9CM:302.83 MSH:D008398 NCI:C94356 SNOMEDCT_US_2015_03_01:248104007 SNOMEDCT_US_2015_03_01:51239001 UMLS_CUI:C0036908 disease_ontology Edwards syndrome Complete trisomy 18 syndrome (disorder) DOID:1085 E3 Trisomy ICD10CM:Q91.3 ICD9CM:758.2 MSH:C580500 NCI:C101362 OMIM mapping confirmed by DO. [LS]. SNOMEDCT_US_2015_03_01:157022000 SNOMEDCT_US_2015_03_01:205626006 SNOMEDCT_US_2015_03_01:254265001 SNOMEDCT_US_2015_03_01:51500006 UMLS_CUI:C0152096 disease_ontology trisomy 18 Complete trisomy 18 syndrome (disorder) SNOMEDCT_2005_07_31:51500006 E3 Trisomy NCI2004_11_17:C36626 middle ear cholesterol granuloma A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. Cholesterin Granuloma of middle ear Cholesterin granuloma Cholesterin granuloma of middle ear DOID:10852 ICD9CM:385.82 NCI:C3655 SNOMEDCT_US_2015_03_01:28371001 UMLS_CUI:C0155492 disease_ontology Cholesterin granuloma of middle ear ICD9CM_2006:385.82 A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 Cholesterin Granuloma of middle ear NCI2004_11_17:C3655 Cholesterin granuloma SNOMEDCT_2005_07_31:28371001 salivary gland disease DOID:10854 DOID:12898 ICD9CM:527.8 Non-neoplastic Salivary gland disease Salivary gland disease UMLS_CUI:C0029773 disease_ontology NCI2004_11_17:C27662 Non-neoplastic Salivary gland disease congenital chromosomal disease DOID:1086 disease_ontology true paralytic squint DOID:10863 ICD10CM:H49 ICD10CM:H49.9 ICD9CM:378.5 ICD9CM:378.50 Incomitant dissociation Incomitant dissociation (disorder) Paralytic squint NOS (disorder) Paralytic strabismus Paralytic strabismus (disorder) Paralytic strabismus, unspecified SNOMEDCT_US_2015_03_01:12942001 SNOMEDCT_US_2015_03_01:194117002 SNOMEDCT_US_2015_03_01:194120005 SNOMEDCT_US_2015_03_01:400942002 UMLS_CUI:C0152221 Unspecified paralytic strabismus (disorder) disease_ontology Incomitant dissociation SNOMEDCT_2005_07_31:155195008 Paralytic squint NOS (disorder) SNOMEDCT_2005_07_31:194120005 ICD9CM_2006:378.50 Paralytic strabismus, unspecified SNOMEDCT_2005_07_31:194117002 Unspecified paralytic strabismus (disorder) Paralytic strabismus (disorder) SNOMEDCT_2005_07_31:400942002 Incomitant dissociation SNOMEDCT_2005_07_31:246745004 ICD9CM_2006:378.5 Paralytic strabismus Incomitant dissociation (disorder) SNOMEDCT_2005_07_31:12942001 partial third-nerve palsy DOID:10864 ICD9CM:378.51 MSH:D015840 Partial third nerve palsy (disorder) SNOMEDCT_US_2015_03_01:194118007 SNOMEDCT_US_2015_03_01:3171005 SNOMEDCT_US_2015_03_01:420289002 Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial UMLS_CUI:C0271370 disease_ontology ICD9CM_2006:378.51 Third or oculomotor nerve palsy, partial Partial third nerve palsy (disorder) SNOMEDCT_2005_07_31:3171005 SNOMEDCT_2005_07_31:194118007 Third nerve palsy with pupil sparing abducens nerve disease Abducens nerve disorder Abducens nerve weakness DOID:10865 ICD10CM:H49.2 ICD9CM:378.54 Lateral rectus muscle denervation paresis Lateral rectus muscle innervation disorder MSH:D020434 NCI:C27592 NCI:C27593 OMIM:100200 SNOMEDCT_US_2015_03_01:14720007 SNOMEDCT_US_2015_03_01:230533001 SNOMEDCT_US_2015_03_01:398760006 SNOMEDCT_US_2015_03_01:398925009 SNOMEDCT_US_2015_03_01:398963001 SNOMEDCT_US_2015_03_01:46587002 SNOMEDCT_US_2015_03_01:4892003 SNOMEDCT_US_2015_03_01:82373004 Sixth cranial nerve disorder, NOS Sixth nerve palsy (disorder) Sixth or abducens nerve palsy UMLS_CUI:C0271355 VIth nerve Paralysis VIth nerve disorder disease_ontology disorder of abducent nerve NCI2004_11_17:C27592 VIth nerve Paralysis SNOMEDCT_2005_07_31:14720007 Sixth nerve palsy (disorder) Lateral rectus muscle denervation paresis SNOMEDCT_2005_07_31:398760006 ICD9CM_2006:378.54 Sixth or abducens nerve palsy Abducens nerve weakness SNOMEDCT_2005_07_31:398963001 SNOMEDCT_2005_07_31:230533001 disorder of abducent nerve NCI2004_11_17:C27593 VIth nerve disorder SNOMEDCT_2005_07_31:82373004 Sixth cranial nerve disorder, NOS Abducens nerve disorder SNOMEDCT_2005_07_31:398925009 Lateral rectus muscle innervation disorder SNOMEDCT_2005_07_31:4892003 Lateral rectus muscle denervation paresis SNOMEDCT_2005_07_31:46587002 total third-nerve palsy DOID:10866 ICD9CM:378.52 MSH:D015840 SNOMEDCT_US_2015_03_01:194119004 SNOMEDCT_US_2015_03_01:85522003 Third nerve palsy with pupil involved Third or oculomotor nerve palsy, total Total third nerve palsy (disorder) UMLS_CUI:C0271371 disease_ontology SNOMEDCT_2005_07_31:194119004 Third nerve palsy with pupil involved SNOMEDCT_2005_07_31:85522003 Total third nerve palsy (disorder) ICD9CM_2006:378.52 Third or oculomotor nerve palsy, total fourth cranial nerve palsy DOID:10869 Fourth nerve palsy (disorder) Fourth or trochlear nerve palsy disease_ontology Fourth or trochlear nerve palsy ICD9CM_2006:378.53 Fourth nerve palsy (disorder) SNOMEDCT_2005_07_31:20610004 age related macular degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. DOID:10871 EFO:0001365 ICD10CM:H35.30 ICD9CM:362.50 MSH:D008268 NCI:C84391 OMIM mapping confirmed by DO. [SN]. OMIM:153800 OMIM:603075 OMIM:608895 OMIM:610149 OMIM:610698 OMIM:611378 OMIM:611488 OMIM:611953 OMIM:613757 OMIM:613761 OMIM:613778 OMIM:613784 OMIM:615439 OMIM:615489 OMIM:615591 SNOMEDCT_US_2015_03_01:155112007 SNOMEDCT_US_2015_03_01:18222007 SNOMEDCT_US_2015_03_01:193384000 SNOMEDCT_US_2015_03_01:193385004 SNOMEDCT_US_2015_03_01:267718000 SNOMEDCT_US_2015_03_01:302891003 Senile macular degeneration Senile macular retinal degeneration UMLS_CUI:C0242383 age-related macular degeneration disease_ontology A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. url:http://en.wikipedia.org/wiki/Macular_degeneration url:http://www.nei.nih.gov/health/maculardegen/armd_facts.asp SNOMEDCT_2005_07_31:302891003 Senile macular retinal degeneration SNOMEDCT_2005_07_31:193384000 Senile macular degeneration Kuhnt-Junius degeneration DOID:10873 Exudative senile macular degeneration of retina ICD10CM:H35.32 ICD9CM:362.52 Kuhnt-Junius degeneration (disorder) Neovascular age-related macular degeneration SNOMEDCT_US_2015_03_01:11290001 SNOMEDCT_US_2015_03_01:16018000 SNOMEDCT_US_2015_03_01:414173003 Senile macular degeneration, wet UMLS_CUI:C0271084 Wet senile macular retinal degeneration disease_ontology Exudative senile macular degeneration of retina ICD9CM_2006:362.52 MTHICD9_2006:362.52 Senile macular degeneration, wet SNOMEDCT_2005_07_31:16018000 Wet senile macular retinal degeneration Neovascular age-related macular degeneration SNOMEDCT_2005_07_31:414173003 Kuhnt-Junius degeneration (disorder) SNOMEDCT_2005_07_31:11290001 premature labor DOID:10875 LABOR PREMATURE Labour - premature Premature labor (finding) Premature labour disease_ontology premature labor true Premature labor (finding) SNOMEDCT_2005_07_31:6383007 Labour - premature SNOMEDCT_2005_07_31:267310009 Premature labour SNOMEDCT_2005_07_31:199046005 LABOR PREMATURE MTH:NOCODE CSP2005:2401-7840 premature labor Labour - premature SNOMEDCT_2005_07_31:156118001 Premature labour SNOMEDCT_2005_07_31:156120003 disorganized type schizophrenia chronic state with acute exacerbation DOID:10877 disease_ontology true meningocele DOID:1088 MSH:D008588 Meningocele (disorder) Meningocele [Ambiguous] Meningocele, NOS SNOMEDCT_US_2015_03_01:156890007 SNOMEDCT_US_2015_03_01:171131006 SNOMEDCT_US_2015_03_01:253121009 SNOMEDCT_US_2015_03_01:268308005 SNOMEDCT_US_2015_03_01:32941003 UMLS_CUI:C0025299 disease_ontology Meningocele (disorder) SNOMEDCT_2005_07_31:171131006 Meningocele [Ambiguous] SNOMEDCT_2005_07_31:253121009 Meningocele, NOS SNOMEDCT_2005_07_31:32941003 iliac vein thrombophlebitis DOID:10880 ICD10CM:I80.21 ICD9CM:451.81 Phlebitis and thrombophlebitis of the iliac vein NOS (disorder) SNOMEDCT_US_2015_03_01:195429006 UMLS_CUI:C0155772 disease_ontology Phlebitis and thrombophlebitis of the iliac vein NOS (disorder) SNOMEDCT_2005_07_31:195429006 hand, foot and mouth disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. DOID:10881 ICD10CM:B08.4 ICD9CM:074.3 MSH:D006232 SNOMEDCT_US_2015_03_01:154357002 SNOMEDCT_US_2015_03_01:175497008 SNOMEDCT_US_2015_03_01:186664000 SNOMEDCT_US_2015_03_01:266108008 SNOMEDCT_US_2015_03_01:67171006 UMLS_CUI:C0018572 Vesicular stomatitis and exanthem disease_ontology A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. url:http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm MTHICD9_2006:074.3 Vesicular stomatitis and exanthem epidemic pleurodynia A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. Bamble disease Bornholm disease DOID:10882 Epidemic pleurisy Epidemic, myositis ICD10CM:B33.0 ICD9CM:074.1 MSH:D011000 SNOMEDCT_US_2015_03_01:154356006 SNOMEDCT_US_2015_03_01:83264000 UMLS_CUI:C0032238 devil's grip disease_ontology epidemic myalgia Epidemic pleurisy SNOMEDCT_2005_07_31:154356006 A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. url:http://emedicine.medscape.com/article/300049-overview Epidemic, myositis MTHICD9_2006:074.1 herpangina A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. DOID:10883 ICD10CM:B08.5 ICD9CM:074.0 MSH:D006557 SNOMEDCT_US_2015_03_01:154358007 SNOMEDCT_US_2015_03_01:186659004 SNOMEDCT_US_2015_03_01:266197009 SNOMEDCT_US_2015_03_01:274102007 SNOMEDCT_US_2015_03_01:37428001 UMLS_CUI:C0019338 Vesicular pharyngitis disease_ontology A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. url:http://emedicine.medscape.com/article/218502-overview url:http://en.wikipedia.org/wiki/Herpangina url:http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm MTHICD9_2006:074.0 Vesicular pharyngitis lepromatous leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. DOID:10887 ICD10CM:A30.5 ICD9CM:030.0 Lepromatous leprosy (disorder) Lepromatous leprosy [type L] MSH:D015440 SNOMEDCT_US_2015_03_01:21560005 UMLS_CUI:C0023348 disease_ontology type L leprosy Lepromatous leprosy (disorder) SNOMEDCT_2005_07_31:21560005 ICD9CM_2006:030.0 Lepromatous leprosy [type L] MTHICD9_2006:030.0 type L leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 tethered spinal cord syndrome DOID:1089 ICD10CM:Q05 ICD10CM:Q05.9 ICD9CM:741 MSH:D016135 NCI:C101214 OMIM mapping confirmed by DO. [LS]. SNOMEDCT_US_2015_03_01:156888006 SNOMEDCT_US_2015_03_01:204017003 SNOMEDCT_US_2015_03_01:67531005 UMLS_CUI:C0080178 disease_ontology spinal dysraphism hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. DOID:10892 EFOpat_id:3299 ICD10CM:Q54 ICD10CM:Q54.9 MSH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 SNOMEDCT_US_2015_03_01:416010008 UMLS_CUI:C0848558 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. url:http://en.wikipedia.org/wiki/Hypospadias url:http://ghr.nlm.nih.gov/glossary=hypospadias leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb DOID:10901 Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93147005 ICD9CM_2006:202.44 Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188648000 pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. DOID:10902 disease_ontology pulmonary actinomycotic infection thoracic actinomycosis true An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. url:http://www.nlm.nih.gov/medlineplus/ency/article/000074.htm ICD9CM_2006:039.1 pulmonary actinomycotic infection microcephaly DOID:10907 ICD10CM:Q02 ICD9CM:742.1 MSH:D008831 Microcephalus NCI:C85874 OMIM mapping confirmed by DO. [SN]. OMIM:251200 OMIM:604321 OMIM:604804 OMIM:608393 OMIM:608716 OMIM:612703 SNOMEDCT_US_2015_03_01:156893009 SNOMEDCT_US_2015_03_01:1829003 SNOMEDCT_US_2015_03_01:204030002 SNOMEDCT_US_2015_03_01:204031003 UMLS_CUI:C0025958 disease_ontology microencephaly CSP2005:0723-5649 microencephaly ICD9CM_2006:742.1 Microcephalus hydrocephalus A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. DOID:10908 ICD10CM:G91 ICD10CM:G91.9 MSH:D006849 NCI:C3111 OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219 ORDO:2182 ORDO:2185 SNOMEDCT_US_2015_03_01:154995000 SNOMEDCT_US_2015_03_01:154997008 SNOMEDCT_US_2015_03_01:192807008 SNOMEDCT_US_2015_03_01:230745008 SNOMEDCT_US_2015_03_01:267687006 UMLS_CUI:C0020255 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive OMIM:236600 hydrocephalus, nonsyndromic, autosomal recessive A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. url:http://en.wikipedia.org/wiki/Hydrocephalus url:http://ghr.nlm.nih.gov/glossary=hydrocephalus url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 MSH:C536078 hydrocephalus, X-linked tooth disease DOID:1091 MSH:D014076 NCI:C35077 SNOMEDCT_US_2015_03_01:155631000 SNOMEDCT_US_2015_03_01:234947003 SNOMEDCT_US_2015_03_01:266485001 SNOMEDCT_US_2015_03_01:367503003 SNOMEDCT_US_2015_03_01:72722003 UMLS_CUI:C0040435 dental disorder disease_ontology CSP2005:0828-0533 dental disorder echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. DOID:10910 disease_ontology true A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. DOID:10911 Enteric cytopathic human orphan virus infection disease_ontology true An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. url:http://en.wikipedia.org/wiki/Echovirus benign essential hypertension DOID:10913 ICD9CM:401.1 NCI:C3656 SNOMEDCT_US_2015_03_01:1201005 SNOMEDCT_US_2015_03_01:194758001 UMLS_CUI:C0155583 benign Essential hypertension benign essential hypertension (disorder) disease_ontology NCI2004_11_17:C3656 benign Essential hypertension SNOMEDCT_2005_07_31:1201005 benign essential hypertension (disorder) amnestic disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. Amnestic syndrome DOID:10914 DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 Korsakoff's psychosis or syndrome MSH:D000647 NCI:C2867 SNOMEDCT_US_2015_03_01:162199006 SNOMEDCT_US_2015_03_01:247606008 SNOMEDCT_US_2015_03_01:3298001 SNOMEDCT_US_2015_03_01:386807006 SNOMEDCT_US_2015_03_01:48167000 SNOMEDCT_US_2015_03_01:78461004 UMLS_CUI:C0002622 UMLS_CUI:C0002625 amnesia disease_ontology A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. url:http://en.wikipedia.org/wiki/Amnesia url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html Amnestic syndrome NCI2004_11_17:C35764 Korsakoff's psychosis or syndrome MTHICD9_2006:294.0 Wernicke-Korsakoff syndrome DOID:10915 Korsakoff Syndrome Korsakoff's psychosis (disorder) Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis MSH:D020915 NCI:C35764 NCI:C84803 OMIM mapping confirmed by DO. [LS]. OMIM:277730 SNOMEDCT_US_2015_03_01:154854002 SNOMEDCT_US_2015_03_01:191470004 SNOMEDCT_US_2015_03_01:191472007 SNOMEDCT_US_2015_03_01:268745002 SNOMEDCT_US_2015_03_01:69482004 UMLS_CUI:C0349464 disease_ontology CSP2005:2042-6017 Korsakoff's syndrome Korsakov's psychosis SNOMEDCT_2005_07_31:268745002 Korsakov psychosis SNOMEDCT_2005_07_31:191470004 Korsakoff's psychosis (disorder) SNOMEDCT_2005_07_31:69482004 transsexuality with asexual history DOID:10918 Trans-sexualism with asexual history Transsexuality with asexual history (disorder) disease_ontology true SNOMEDCT_2005_07_31:191783002 Transsexuality with asexual history (disorder) ICD9CM_2006:302.51 Trans-sexualism with asexual history transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. DOID:10919 ICD9CM:302.50 SNOMEDCT_US_2015_03_01:191782007 UMLS_CUI:C0040630 disease_ontology A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. url:http://en.wikipedia.org/wiki/Transsexualism Siberian tick typhus A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. DOID:0050054 DOID:0050055 DOID:10921 ICD10CM:A77.2 ICD9CM:082.2 North Asian tick fever North Asian tick fever (disorder) [Ambiguous] North Asian tick fever NOS (disorder) North Asian tick typhus (disorder) Rickettsia sibirica spotted fever SNOMEDCT_US_2015_03_01:186781003 SNOMEDCT_US_2015_03_01:186782005 SNOMEDCT_US_2015_03_01:186783000 SNOMEDCT_US_2015_03_01:7692008 Siberian tick typhus (disorder) UMLS_CUI:C0549160 disease_ontology manchurian typhus North Asian tick fever (disorder) [Ambiguous] SNOMEDCT_2005_07_31:7692008 A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html North Asian tick typhus (disorder) SNOMEDCT_2005_07_31:186781003 North Asian tick fever NOS (disorder) SNOMEDCT_2005_07_31:186783000 SNOMEDCT_2005_07_31:186782005 Siberian tick typhus (disorder) ICD9CM_2006:082.2 North Asian tick fever sickle-cell crisis DOID:10922 Hb-S disease with mention of crisis Hemoglobin S disease with crisis (disorder) Hemoglobin SS disease with crisis (disorder) Sickle cell anemia with crisis (disorder) disease_ontology sickle cell crisis true CSP2005:1418-5715 sickle cell crisis SNOMEDCT_2005_07_31:191197002 Sickle cell anemia with crisis (disorder) Hemoglobin S disease with crisis (disorder) SNOMEDCT_2005_07_31:72279006 Hemoglobin SS disease with crisis (disorder) SNOMEDCT_2005_07_31:417425009 Hb-S disease with mention of crisis ICD9CM_2006:282.62 sickle cell anemia DOID:10923 DOID:12924 DOID:13024 EFOpat_id:125 Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis (disorder) ICD10CM:D57 ICD10CM:D57.1 ICD10CM:D57.2 ICD10CM:D57.20 ICD9CM:282.6 ICD9CM:282.60 ICD9CM:282.63 MSH:D000755 MSH:D006450 NCI:C34383 NCI:C34676 OMIM mapping confirmed by DO. [LS]. OMIM:603903 SNOMEDCT_US_2015_03_01:127040003 SNOMEDCT_US_2015_03_01:154798006 SNOMEDCT_US_2015_03_01:191194009 SNOMEDCT_US_2015_03_01:191195005 SNOMEDCT_US_2015_03_01:191199004 SNOMEDCT_US_2015_03_01:276267006 SNOMEDCT_US_2015_03_01:35434009 SNOMEDCT_US_2015_03_01:417357006 SNOMEDCT_US_2015_03_01:80046004 Sickle-cell/Hb-C disease without crisis UMLS_CUI:C0002895 UMLS_CUI:C0019034 disease_ontology drepanocytosis hemoglobin SC disease Hb-S/Hb-C disease MTHICD9_2006:282.63 Hemoglobin S disease without crisis (disorder) SNOMEDCT_2005_07_31:21976009 ICD9CM_2006:282.63 Sickle-cell/Hb-C disease without crisis Hb SC disease SNOMEDCT_2005_07_31:35434009 catatonic type schizophrenia chronic state DOID:10924 disease_ontology true catatonic schizophrenia DOID:10925 disease_ontology true gastrojejunal ulcer DOID:10926 DOID:10927 DOID:10928 DOID:10929 DOID:12230 DOID:12232 DOID:14085 DOID:14137 DOID:9522 DOID:9523 DOID:9524 ICD10CM:K28.0 ICD9CM:534.0 SNOMEDCT_US_2015_03_01:196709002 SNOMEDCT_US_2015_03_01:63954007 UMLS_CUI:C0156042 acute gastrojejunal ulcer with hemorrhage acute gastrojejunal ulcer with hemorrhage AND obstruction acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder) acute gastrojejunal ulcer with hemorrhage AND perforation acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder) acute gastrojejunal ulcer with perforation acute gastrojejunal ulcer with perforation AND obstruction acute gastrojejunal ulcer with perforation AND obstruction (disorder) acute gastrojejunal ulcer with perforation, with obstruction acute gastrojejunal ulcer without hemorrhage AND without perforation acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction acute gastrojejunal ulcer, with hemorrhage, with obstruction chronic gastrojejunal ulcer without hemorrhage AND without perforation chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction disease_ontology ICD9CM_2006:534.70 chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction SNOMEDCT_2005_07_31:72219001 acute gastrojejunal ulcer with perforation AND obstruction (disorder) SNOMEDCT_2005_07_31:41626001 chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) ICD9CM_2006:534.11 acute gastrojejunal ulcer with perforation, with obstruction SNOMEDCT_2005_07_31:72408002 acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder) ICD9CM_2006:534.01 acute gastrojejunal ulcer, with hemorrhage, with obstruction SNOMEDCT_2005_07_31:77987006 acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) SNOMEDCT_2005_07_31:58711008 acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder) ICD9CM_2006:534.30 acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction borderline personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. DOID:10930 ICD10CM:F60.3 ICD9CM:301.83 MSH:D001883 NCI:C92633 SNOMEDCT_US_2015_03_01:192488005 SNOMEDCT_US_2015_03_01:20010003 UMLS_CUI:C0006012 disease_ontology A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. url:http://en.wikipedia.org/wiki/Borderline_personality_disorder dependent personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. DOID:10931 ICD10CM:F60.7 ICD9CM:301.6 MSH:D003859 NCI:C92637 SNOMEDCT_US_2015_03_01:191768007 SNOMEDCT_US_2015_03_01:192492003 SNOMEDCT_US_2015_03_01:84466009 UMLS_CUI:C0011548 disease_ontology A personality disorder that is characterized by a pervasive psychological dependence on other people. url:http://en.wikipedia.org/wiki/Dependent_personality_disorder obsessive-compulsive personality disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. Anankastic personality disorder DOID:10932 ICD10CM:F60.5 ICD9CM:301.4 MSH:D003193 NCI:C92638 OCPD Obsessional personality SNOMEDCT_US_2015_03_01:112091009 SNOMEDCT_US_2015_03_01:1376001 SNOMEDCT_US_2015_03_01:154899005 SNOMEDCT_US_2015_03_01:191760000 SNOMEDCT_US_2015_03_01:191761001 SNOMEDCT_US_2015_03_01:191762008 SNOMEDCT_US_2015_03_01:192490006 SNOMEDCT_US_2015_03_01:271200007 UMLS_CUI:C0009595 disease_ontology A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder MTHICD9_2006:301.4 Obsessional personality Anankastic personality disorder SNOMEDCT_2005_07_31:191762008 obsessive-compulsive disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). Anancastic neurosis DOID:10933 ICD10CM:F42 ICD9CM:300.3 MSH:D009771 NCI:C88411 SNOMEDCT_US_2015_03_01:191736004 SNOMEDCT_US_2015_03_01:191739006 SNOMEDCT_US_2015_03_01:192406007 SNOMEDCT_US_2015_03_01:192411009 SNOMEDCT_US_2015_03_01:71478004 UMLS_CUI:C0028768 disease_ontology obsessive compulsive disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/ Anancastic neurosis MTHICD9_2006:300.3 multiple personality disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. DOID:10934 Dissociative identity disorder ICD10CM:F44.81 ICD9CM:300.14 MSH:D009105 NCI:C94330 SNOMEDCT_US_2015_03_01:192428007 SNOMEDCT_US_2015_03_01:31611000 UMLS_CUI:C0026773 disease_ontology A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder Dissociative identity disorder ICD9CM_2006:300.14 dissociative disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). DOID:10935 DOID:4963 ICD10CM:F44.9 ICD10CM:F48.9 ICD9CM:300.15 ICD9CM:300.9 MSH:D004213 NCI:C92197 SNOMEDCT_US_2015_03_01:154883004 SNOMEDCT_US_2015_03_01:44376007 UMLS_CUI:C0012746 UMLS_CUI:C0041857 disease_ontology dissociative disease dissociative reaction A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html CSP2005:2483-7018 dissociative reaction schizoid personality disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. DOID:10936 ICD10CM:F60.1 ICD9CM:301.2 ICD9CM:301.20 MSH:D012557 NCI:C92631 SNOMEDCT_US_2015_03_01:191756003 SNOMEDCT_US_2015_03_01:191758002 SNOMEDCT_US_2015_03_01:192486009 SNOMEDCT_US_2015_03_01:52954000 UMLS_CUI:C0036339 disease_ontology A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder impulse control disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. DOID:10937 ICD10CM:F63.9 ICD9CM:312.30 MSH:D007174 NCI:C34723 SNOMEDCT_US_2015_03_01:192095006 SNOMEDCT_US_2015_03_01:192098008 SNOMEDCT_US_2015_03_01:66347000 UMLS_CUI:C0021122 disease_ontology A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. url:http://www.forensicpsychiatry.ca/impulse/overview.htm paranoid personality disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. DOID:10938 ICD10CM:F60.0 ICD9CM:301.0 MSH:D010260 NCI:C92630 SNOMEDCT_US_2015_03_01:13601005 SNOMEDCT_US_2015_03_01:154896003 SNOMEDCT_US_2015_03_01:191750009 SNOMEDCT_US_2015_03_01:192485008 SNOMEDCT_US_2015_03_01:270529002 UMLS_CUI:C0030477 disease_ontology A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder antisocial personality disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. Asocial personality DOID:10939 Dissocial personality disorder ICD10CM:F60.2 ICD9CM:301.7 MSH:D000987 NCI:C88413 Psychopath.personality Psychopathic personality Psychopathic personality disorder SNOMEDCT_US_2015_03_01:191769004 SNOMEDCT_US_2015_03_01:191777000 SNOMEDCT_US_2015_03_01:192487000 SNOMEDCT_US_2015_03_01:26665006 SNOMEDCT_US_2015_03_01:268759009 UMLS_CUI:C0003431 disease_ontology sociopathic personality Dissocial personality disorder SNOMEDCT_2005_07_31:192487000 CSP2005:2483-7185 sociopathic personality Psychopathic personality SNOMEDCT_2005_07_31:191777000 Psychopath.personality SNOMEDCT_2005_07_31:268759009 A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder Asocial personality MTHICD9_2006:301.7 MTHICD9_2006:301.9 Psychopathic personality disorder attention deficit hyperactivity disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age. ADHD DOID:1093 DOID:1094 EFO:0003888 ICD9CM:314.8 MSH:D001289 NCI:C35092 OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 OMIM:613003 UMLS_CUI:C0041671 UMLS_CUI:C0154629 Xref MGI. attention deficit disorder disease_ontology hyperkinetic disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age. url:http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder intracranial aneurysm DOID:10941 EFO:0003870 MSH:D002532 NCI:C34458 SNOMEDCT_US_2015_03_01:128609009 SNOMEDCT_US_2015_03_01:42994005 UMLS_CUI:C0007766 brain aneurysm disease_ontology tongue disease DOID:10944 ICD10CM:K14 ICD10CM:K14.9 ICD9CM:529.9 MSH:D014060 SNOMEDCT_US_2015_03_01:155533008 SNOMEDCT_US_2015_03_01:155665004 SNOMEDCT_US_2015_03_01:155667007 SNOMEDCT_US_2015_03_01:196595001 SNOMEDCT_US_2015_03_01:266496009 SNOMEDCT_US_2015_03_01:69244009 UMLS_CUI:C0040409 disease_ontology nephritis DOID:10952 ICD10CM:N05 ICD10CM:N08 MSH:D009393 NCI:C26833 SNOMEDCT_US_2015_03_01:155853001 SNOMEDCT_US_2015_03_01:266615001 SNOMEDCT_US_2015_03_01:274107001 SNOMEDCT_US_2015_03_01:52845002 UMLS_CUI:C0027697 disease_ontology strongyloidiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. DOID:0050008 DOID:10955 ICD10CM:B78 ICD10CM:B78.9 ICD9CM:127.2 Infection by Strongyloides (disorder) MSH:D013322 SNOMEDCT_US_2015_03_01:1214006 SNOMEDCT_US_2015_03_01:187177001 SNOMEDCT_US_2015_03_01:187537002 UMLS_CUI:C0038463 disease_ontology disseminated strongyloidiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. url:http://en.wikipedia.org/wiki/Strongyloidiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm Infection by Strongyloides (disorder) SNOMEDCT_2005_07_31:1214006 Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. DOID:10957 disease_ontology intestinal infection due to aerobacter aerogenes true An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. url:http://emedicine.medscape.com/article/216845-overview ICD9CM_2006:008.2 intestinal infection due to aerobacter aerogenes Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. DOID:10958 disease_ontology intestinal infectious disease due to arizona group of paracolon bacilli true A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14662995 Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. DOID:10959 disease_ontology intestinal infectious disease due to Escherichia coli true A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html url:http://www.who.int/mediacentre/factsheets/fs125/en/ cholesteatoma of attic DOID:10963 ICD10CM:H71.0 ICD10CM:H71.00 ICD9CM:385.31 SNOMEDCT_US_2015_03_01:38708003 UMLS_CUI:C0155489 disease_ontology cholesteatoma of middle ear Cholesteatoma of middle ear Cholesteatoma of middle ear (disorder) Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear DOID:10964 DOID:11433 Epidermosis of ear Epidermosis of middle ear ICD10CM:H71 ICD9CM:385.32 ICD9CM:385.33 MSH:D018424 NCI:C3654 SNOMEDCT_US_2015_03_01:194339007 SNOMEDCT_US_2015_03_01:194340009 SNOMEDCT_US_2015_03_01:360584008 SNOMEDCT_US_2015_03_01:39911004 SNOMEDCT_US_2015_03_01:87688009 UMLS_CUI:C0008374 UMLS_CUI:C0155490 Unspecified cholesteatoma (morphologic abnormality) disease_ontology middle ear cholesteatoma Epidermosis of middle ear SNOMEDCT_2005_07_31:39911004 SNOMEDCT_2005_07_31:194338004 Unspecified cholesteatoma (morphologic abnormality) Cholesteatoma of middle ear and mastoid ICD9CM_2006:385.33 Cholesteatoma of middle ear (disorder) SNOMEDCT_2005_07_31:87688009 Epidermosis of ear MTHICD9_2006:385.3 Cholesteatoma of the middle ear NCI2004_11_17:C3654 Cholesteatoma of middle ear ICD9CM_2006:385.32 Cholesteatoma of middle ear and/or mastoid SNOMEDCT_2005_07_31:39911004 spastic diplegia A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. DOID:10965 DOID:3778 Diplegic infantile cerebral palsy ICD10CM:G80.1 ICD9CM:343.0 Infantile spastic cerebral palsy Little's disease Littles disease MSH:D002547 NCI:C34781 SNOMEDCT_US_2015_03_01:1178005 SNOMEDCT_US_2015_03_01:192947000 SNOMEDCT_US_2015_03_01:275469001 SNOMEDCT_US_2015_03_01:281411007 Spastic Diplegia Spastic diplegia (disorder) UMLS_CUI:C0023882 UMLS_CUI:C0154695 cerebral spastic infantile paralysis disease_ontology infantile diplegic cerebral palsy NCI2004_11_17:C34781 Spastic Diplegia Infantile spastic cerebral palsy SNOMEDCT_2005_07_31:1178005 Littles disease SNOMEDCT_2005_07_31:192947000 CSP2005:0723-4729 cerebral spastic infantile paralysis A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic Diplegic infantile cerebral palsy ICD9CM_2006:343.0 SNOMEDCT_2005_07_31:281411007 Spastic diplegia (disorder) lipoid nephrosis DOID:10966 ICD10CM:N04 MSH:D009402 Minimal Change Glomerulonephritis Minimal change disease (disorder) Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome SNOMEDCT_US_2015_03_01:197592009 SNOMEDCT_US_2015_03_01:44785005 UMLS_CUI:C0027721 disease_ontology Minimal change disease (disorder) SNOMEDCT_2005_07_31:44785005 ICD9CM_2006:581.3 Nephrotic syndrome with lesion of minimal change glomerulonephritis Minimal Change Glomerulonephritis NCI2004_11_17:C34844 MTHICD9_2006:581.3 Nephrotic syndrome with lesion of minimal change nephrotic syndrome NCI2004_11_17:C35540 Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis spastic hemiplegia A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. Congenital hemiplegia DOID:10967 Hemiplegic cerebral palsy (disorder) Hemiplegic infantile cerebral palsy ICD9CM:343.1 SNOMEDCT_US_2015_03_01:258714003 SNOMEDCT_US_2015_03_01:43486001 UMLS_CUI:C0270805 disease_ontology hemiplegic cerebral palsy spastic hemiplegic cerebral palsy Hemiplegic cerebral palsy (disorder) SNOMEDCT_2005_07_31:43486001 Congenital hemiplegia MTHICD9_2006:343.1 Hemiplegic infantile cerebral palsy ICD9CM_2006:343.1 A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic spastic monoplegia A spastic cerebral palsy that affects only one limb. DOID:10968 ICD9CM:343.3 MSH:D002547 Monoplegic infantile cerebral palsy UMLS_CUI:C0154698 disease_ontology infantile monoplegic cerebral palsy spastic monoplegic cerebral palsy ICD9CM_2006:343.3 Monoplegic infantile cerebral palsy A spastic cerebral palsy that affects only one limb. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic hemiplegia DOID:10969 ICD9CM:343.4 Infantile hemiplegia Infantile hemiplegia (disorder) Infantile hemiplegia NOS Infantile hemiplegia NOS (disorder) Infantile hemiplegia [Ambiguous] MSH:D006429 Postnatal infantile hemiplegia NOS SNOMEDCT_US_2015_03_01:155024003 SNOMEDCT_US_2015_03_01:155025002 SNOMEDCT_US_2015_03_01:155026001 SNOMEDCT_US_2015_03_01:1593000 SNOMEDCT_US_2015_03_01:192952005 SNOMEDCT_US_2015_03_01:192955007 SNOMEDCT_US_2015_03_01:267696006 UMLS_CUI:C0392550 disease_ontology Infantile hemiplegia SNOMEDCT_2005_07_31:155024003 Infantile hemiplegia SNOMEDCT_2005_07_31:267696006 MTHICD9_2006:343.4 Postnatal infantile hemiplegia NOS Infantile hemiplegia SNOMEDCT_2005_07_31:155025002 ICD9CM_2006:343.4 Infantile hemiplegia Infantile hemiplegia NOS (disorder) SNOMEDCT_2005_07_31:192955007 Infantile hemiplegia (disorder) SNOMEDCT_2005_07_31:1593000 Infantile hemiplegia [Ambiguous] SNOMEDCT_2005_07_31:192952005 Infantile hemiplegia NOS SNOMEDCT_2005_07_31:155026001 hydrops fetalis DOID:1097 Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. disease_ontology true Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. stedman:rlc url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis spastic quadriplegia A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. DOID:10970 ICD9CM:343.2 MSH:D002547 OMIM:603513 OMIM:612900 ORDO:210141 SNOMEDCT_US_2015_03_01:192953000 SNOMEDCT_US_2015_03_01:275468009 UMLS_CUI:C0154697 Xref MGI. disease_ontology quadriplegic infantile cerebral palsy spastic quadriplegic cerebral palsy tetraplegic infantile cerebral palsy ICD9CM_2006:343.2 quadriplegic infantile cerebral palsy MTHICD9_2006:343.2 tetraplegic infantile cerebral palsy A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic acute salpingo-oophoritis DOID:10971 ICD10CM:N70.0 ICD10CM:N70.03 ICD9CM:614.0 SNOMEDCT_US_2015_03_01:155969007 SNOMEDCT_US_2015_03_01:198132003 SNOMEDCT_US_2015_03_01:198134002 SNOMEDCT_US_2015_03_01:198139007 SNOMEDCT_US_2015_03_01:266581008 UMLS_CUI:C0156327 acute salpingitis &/or oophoritis acute salpingitis and oophoritis acute salpingitis and oophoritis NOS (disorder) acute salpingo-oophoritis (disorder) disease_ontology ICD9CM_2006:614.0 acute salpingitis and oophoritis SNOMEDCT_2005_07_31:266581008 acute salpingo-oophoritis (disorder) SNOMEDCT_2005_07_31:198139007 acute salpingitis and oophoritis NOS (disorder) SNOMEDCT_2005_07_31:198132003 acute salpingitis &/or oophoritis salpingo-oophoritis DOID:10972 ICD10CM:N70 ICD10CM:N70.9 ICD10CM:N70.93 ICD9CM:614.2 SNOMEDCT_US_2015_03_01:155971007 SNOMEDCT_US_2015_03_01:198147007 SNOMEDCT_US_2015_03_01:198150005 SNOMEDCT_US_2015_03_01:198153007 SNOMEDCT_US_2015_03_01:266650009 SNOMEDCT_US_2015_03_01:46536000 Salpingitis and oophoritis not specified as acute, subacute, or chronic Salpingitis and oophoritis unspecified (disorder) Salpingitis/oophoritis NOS Salpingitis/oophoritis NOS (disorder) Salpingo-oophoritis unspecified (disorder) Tubo-ovarian inflammatory disease Tubo-ovarian inflammatory disease (disorder) UMLS_CUI:C0036133 Unspecified salpingitis and oophoritis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:198150005 Salpingo-oophoritis unspecified (disorder) SNOMEDCT_2005_07_31:198153007 Unspecified salpingitis and oophoritis NOS (disorder) SNOMEDCT_2005_07_31:266650009 Salpingitis/oophoritis NOS (disorder) ICD9CM_2006:614.2 Salpingitis and oophoritis not specified as acute, subacute, or chronic SNOMEDCT_2005_07_31:155971007 Salpingitis/oophoritis NOS MTHICD9_2006:614.2 Tubo-ovarian inflammatory disease SNOMEDCT_2005_07_31:46536000 Tubo-ovarian inflammatory disease (disorder) SNOMEDCT_2005_07_31:198147007 Salpingitis and oophoritis unspecified (disorder) acute salpingitis DOID:10973 ICD10CM:N70.01 NCI:C40120 SNOMEDCT_US_2015_03_01:8912009 UMLS_CUI:C0269038 acute Salpingitis acute salpingitis (disorder) disease_ontology NCI2004_11_17:C40120 acute Salpingitis SNOMEDCT_2005_07_31:8912009 acute salpingitis (disorder) oophoritis DOID:10974 ICD10CM:N70.92 MSH:D009869 Oophoritis (disorder) Oophoritis unspecified (disorder) SNOMEDCT_US_2015_03_01:155968004 SNOMEDCT_US_2015_03_01:198148002 SNOMEDCT_US_2015_03_01:266648001 SNOMEDCT_US_2015_03_01:76047005 UMLS_CUI:C0029051 disease_ontology Oophoritis unspecified (disorder) SNOMEDCT_2005_07_31:198148002 Oophoritis (disorder) SNOMEDCT_2005_07_31:76047005 membranous glomerulonephritis DOID:10976 EFO:0004254 ICD10CM:N03.2 MSH:D015433 Membranous Glomerulonephritis Membranous glomerulonephritis Membranous glomerulonephritis (disorder) Membranous nephropathy NOS NCI:C34645 SNOMEDCT_US_2015_03_01:197710000 SNOMEDCT_US_2015_03_01:77182004 UMLS_CUI:C0017665 disease_ontology membranous nephropathy Membranous Glomerulonephritis NCI2004_11_17:C34645 CSP2005:4006-0062 membranous nephropathy MTHICD9_2006:583.1 Membranous nephropathy NOS Membranous glomerulonephritis (disorder) SNOMEDCT_2005_07_31:77182004 Membranous glomerulonephritis SNOMEDCT_2005_07_31:197710000 poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. DOID:10978 acute nonparalytic poliomyelitis poliovirus type III disease_ontology true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. DOID:10979 acute nonparalytic poliomyelitis poliovirus type I disease_ontology true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf fetal erythroblastosis (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn) DOID:1098 EF - Erythroblastosis foetalis ICD10CM:P55 ICD10CM:P55.9 ICD9CM:773 ICD9CM:773.2 MSH:D004899 NCI:C101304 SNOMEDCT_US_2015_03_01:111468003 SNOMEDCT_US_2015_03_01:123307003 SNOMEDCT_US_2015_03_01:157130001 SNOMEDCT_US_2015_03_01:206429000 SNOMEDCT_US_2015_03_01:206430005 SNOMEDCT_US_2015_03_01:206431009 SNOMEDCT_US_2015_03_01:206436004 SNOMEDCT_US_2015_03_01:25121006 SNOMEDCT_US_2015_03_01:268878003 SNOMEDCT_US_2015_03_01:276577009 SNOMEDCT_US_2015_03_01:33130007 SNOMEDCT_US_2015_03_01:387705004 UMLS_CUI:C0014761 disease_ontology erythroblastosis fetalis CSP2005:0441-2309 erythroblastosis fetalis EF - Erythroblastosis foetalis SNOMEDCT_2005_07_31:387705004 (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn) SNOMEDCT_2005_07_31:206430005 poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. DOID:10980 acute nonparalytic poliomyelitis poliovirus type II disease_ontology true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf Alport syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. DOID:10983 Hereditary Nephritis MSH:D009394 OMIM mapping confirmed by DO. [SN]. OMIM:104200 OMIM:203780 OMIM:301050 SNOMEDCT_US_2015_03_01:399340005 SNOMEDCT_US_2015_03_01:57333009 UMLS_CUI:C0027706 disease_ontology Hereditary Nephritis NCI2004_11_17:C34842 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. url:http://en.wikipedia.org/wiki/Alport_syndrome discitis DOID:10986 ICD10CM:M46.4 MSH:D015299 SNOMEDCT_US_2015_03_01:2304001 UMLS_CUI:C0012624 discitis (disorder) disease_ontology SNOMEDCT_2005_07_31:2304001 discitis (disorder) conjunctival vascular disease Conjunctival vascular abnormality NOS (disorder) DOID:10989 ICD10CM:H11.41 ICD9CM:372.74 NCI:C35116 SNOMEDCT_US_2015_03_01:193900004 SNOMEDCT_US_2015_03_01:74100001 UMLS_CUI:C0042370 disease_ontology vascular abnormalities of conjunctiva vascular abnormality of conjunctiva (disorder) Conjunctival vascular abnormality NOS (disorder) SNOMEDCT_2005_07_31:193900004 ICD9CM_2006:372.74 vascular abnormalities of conjunctiva SNOMEDCT_2005_07_31:74100001 vascular abnormality of conjunctiva (disorder) alpha thalassemia Alpha thalassaemia Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. DOID:1099 Hemoglobin H disease ICD10CM:D56.0 ICD9CM:282.43 MSH:D017085 NCI:C34368 OMIM mapping confirmed by DO. [SN]. OMIM:141750 OMIM:141800 OMIM:301040 OMIM:604131 OMIM:613978 SNOMEDCT_US_2015_03_01:191186002 SNOMEDCT_US_2015_03_01:68913001 UMLS_CUI:C0002312 alpha-Thalassemia disease_ontology Hemoglobin H disease NCI2004_11_17:C34368 Alpha thalassaemia SNOMEDCT_2005_07_31:191186002 Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. url:http://en.wikipedia.org/wiki/Alpha_Thalassemia basal ganglia cerebrovascular disease DOID:10991 MSH:D020144 UMLS_CUI:C0751739 disease_ontology acute hemorrhagic leukoencephalitis A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. AHL DOID:10992 MSH:D004684 NCI:C84535 OMIM mapping confirmed by DO. [SN]. OMIM:606752 SNOMEDCT_US_2015_03_01:72986009 UMLS_CUI:C0014077 Weston-Hurst syndrome acute haemorrhagic leucoencephalitis of Weston Hurst acute hemorrhagic encephalomyelitis acute necrotizing hemorrhagic leukoencephalitis disease_ontology A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis url:http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1 AHL OMIM:606752 SNOMEDCT_2005_07_31:72986009 acute haemorrhagic leucoencephalitis of Weston Hurst postinfectious encephalitis DOID:10993 Post-infectious encephalitis (disorder) Post-infectious encephalitis NOS (disorder) Postinfective encephalitis disease_ontology true Post-infectious encephalitis (disorder) SNOMEDCT_2005_07_31:192727001 Postinfective encephalitis SNOMEDCT_2005_07_31:154989001 Postinfective encephalitis SNOMEDCT_2005_07_31:267683005 Post-infectious encephalitis NOS (disorder) SNOMEDCT_2005_07_31:192729003 immature cataract DOID:10997 ICD10CM:H25.09 Immature cataract NOS (disorder) Incipient cataract (disorder) Incipient cataract NOS (disorder) Incipient senile cataract SNOMEDCT_US_2015_03_01:193584004 SNOMEDCT_US_2015_03_01:52421005 UMLS_CUI:C0271163 Water clefts disease_ontology Immature cataract NOS (disorder) SNOMEDCT_2005_07_31:193585003 ICD9CM_2006:366.12 Incipient senile cataract Incipient cataract NOS (disorder) SNOMEDCT_2005_07_31:193584004 Incipient cataract (disorder) SNOMEDCT_2005_07_31:52421005 MTHICD9_2006:366.12 Water clefts chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis DOID:10998 disease_ontology true lens disease DOID:110 ICD10CM:H25-H28 ICD10CM:H27.9 MSH:D007905 NCI:C26812 SNOMEDCT_US_2015_03_01:10810001 SNOMEDCT_US_2015_03_01:194158009 SNOMEDCT_US_2015_03_01:194613002 UMLS_CUI:C0023308 disease_ontology disorder of lens lens disorder CSP2005:1114-9053 lens disorder SNOMEDCT_2005_07_31:194613002 disorder of lens ovarian disease DOID:1100 MSH:D010049 NCI:C26841 Ovarian disorder SNOMEDCT_US_2015_03_01:5552004 UMLS_CUI:C0029928 disease_ontology disorder of ovary (disorder) ovary disorder NCI2004_11_17:C26841 Ovarian disorder SNOMEDCT_2005_07_31:5552004 disorder of ovary (disorder) CSP2005:2587-6126 ovary disorder progressive iris atrophy DOID:11000 Essential iris atrophy (disorder) Essential or progressive iris atrophy disease_ontology true Essential iris atrophy (disorder) SNOMEDCT_2005_07_31:25913001 Essential or progressive iris atrophy ICD9CM_2006:364.51 Iris and ciliary body degeneration DOID:11001 disease_ontology true Iridoschisis DOID:11002 Iridoschisis (disorder) disease_ontology true Iridoschisis (disorder) SNOMEDCT_2005_07_31:5743005 pupillary margin miotic cyst DOID:11003 Miotic cyst of pupillary margin (disorder) Miotic cysts of pupillary margin disease_ontology true Miotic cyst of pupillary margin (disorder) SNOMEDCT_2005_07_31:22681004 ICD9CM_2006:364.55 Miotic cysts of pupillary margin Atrophy of sphincter of iris DOID:11005 degeneration of pupillary margin degeneration of pupillary margin (disorder) disease_ontology true SNOMEDCT_2005_07_31:25859000 degeneration of pupillary margin (disorder) ICD9CM_2006:364.54 degeneration of pupillary margin anorectal stricture Anorectal stricture (disorder) DOID:11014 ICD10CM:K62.4 ICD9CM:569.2 MSH:C537771 SNOMEDCT_US_2015_03_01:155803007 SNOMEDCT_US_2015_03_01:197216007 SNOMEDCT_US_2015_03_01:197218008 SNOMEDCT_US_2015_03_01:68627009 Stenosis of rectum and anus Stenosis of rectum and anus (disorder) Stenosis of rectum and anus NOS (disorder) UMLS_CUI:C0156183 disease_ontology SNOMEDCT_2005_07_31:197216007 Stenosis of rectum and anus (disorder) Anorectal stricture (disorder) SNOMEDCT_2005_07_31:68627009 SNOMEDCT_2005_07_31:197218008 Stenosis of rectum and anus NOS (disorder) ICD9CM_2006:569.2 Stenosis of rectum and anus SNOMEDCT_2005_07_31:155803007 Stenosis of rectum and anus postsurgical testicular hypofunction DOID:11018 Post-surgical testicular hypofunction (disorder) Postablative testicular hypofunction Postablative testicular hypofunction (disorder) Postablative testicular hypofunction NOS (disorder) Postsurgical testicular hypofunction (disorder) [Ambiguous] disease_ontology true Postablative testicular hypofunction NOS (disorder) SNOMEDCT_2005_07_31:190556008 Postsurgical testicular hypofunction (disorder) [Ambiguous] SNOMEDCT_2005_07_31:60237007 Postablative testicular hypofunction (disorder) SNOMEDCT_2005_07_31:190552005 Post-surgical testicular hypofunction (disorder) SNOMEDCT_2005_07_31:190553000 ICD9CM_2006:257.1 Postablative testicular hypofunction testicular dysfunction DOID:11019 disease_ontology true chronic glomerulonephritis with lesion of proliferative glomerulonephritis DOID:11020 chronic glomerulonephritis with lesion of proliferative glomerulonephritis disease_ontology true ICD9CM_2006:582.0 chronic glomerulonephritis with lesion of proliferative glomerulonephritis chronic glomerulonephritis with lesion of membranous glomerulonephritis DOID:11027 chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis disease_ontology true NCI2004_11_17:C34475 chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis pseudopterygium DOID:11028 ICD9CM:372.52 SNOMEDCT_US_2015_03_01:66139007 UMLS_CUI:C0155161 disease_ontology pinguecula DOID:11029 ICD10CM:H11.15 ICD9CM:372.51 MSH:D059407 Pinguecula (disorder) SNOMEDCT_US_2015_03_01:155169006 SNOMEDCT_US_2015_03_01:267735001 SNOMEDCT_US_2015_03_01:87614000 UMLS_CUI:C0152255 disease_ontology Pinguecula (disorder) SNOMEDCT_2005_07_31:87614000 malignant esophageal neoplasm by topographic region DOID:1103 disease_ontology true corneal edema CORNEAL EDEMA Corneal edema (disorder) Corneal edema NOS (disorder) Corneal edema, unspecified Corneal oedema Corneal oedema [Ambiguous] DOID:11030 ICD10CM:H18.20 ICD9CM:371.2 ICD9CM:371.20 MSH:D015715 NCI:C50508 SNOMEDCT_US_2015_03_01:155158008 SNOMEDCT_US_2015_03_01:193811006 SNOMEDCT_US_2015_03_01:193812004 SNOMEDCT_US_2015_03_01:193817005 SNOMEDCT_US_2015_03_01:27194006 UMLS_CUI:C0010037 Unspecified corneal edema (disorder) cornea edema disease_ontology CORNEAL EDEMA MTH:NOCODE Corneal oedema SNOMEDCT_2005_07_31:155158008 CSP2005:1114-8704 cornea edema SNOMEDCT_2005_07_31:193812004 Unspecified corneal edema (disorder) Corneal edema, unspecified ICD9CM_2006:371.20 Corneal edema (disorder) SNOMEDCT_2005_07_31:27194006 Corneal oedema [Ambiguous] SNOMEDCT_2005_07_31:193811006 Corneal edema NOS (disorder) SNOMEDCT_2005_07_31:193817005 bullous keratopathy Bullous Keratopathy Bullous keratopathy (disorder) DOID:11031 ICD10CM:H18.1 ICD9CM:371.23 NCI:C26970 SNOMEDCT_US_2015_03_01:193815002 SNOMEDCT_US_2015_03_01:57207003 UMLS_CUI:C0155111 disease_ontology Bullous keratopathy (disorder) SNOMEDCT_2005_07_31:57207003 Bullous Keratopathy NCI2004_11_17:C26970 secondary corneal edema DOID:11032 ICD10CM:H18.23 ICD9CM:371.22 SNOMEDCT_US_2015_03_01:193814003 SNOMEDCT_US_2015_03_01:27536004 UMLS_CUI:C0155110 disease_ontology secondary corneal edema (disorder) secondary corneal edema [dup] (disorder) SNOMEDCT_2005_07_31:193814003 secondary corneal edema [dup] (disorder) SNOMEDCT_2005_07_31:27536004 secondary corneal edema (disorder) idiopathic corneal edema DOID:11033 ICD10CM:H18.22 ICD9CM:371.21 Idiopathic corneal edema (disorder) Idiopathic corneal edema [dup] (disorder) SNOMEDCT_US_2015_03_01:1794009 SNOMEDCT_US_2015_03_01:193813009 UMLS_CUI:C0155109 disease_ontology Idiopathic corneal edema (disorder) SNOMEDCT_2005_07_31:1794009 Idiopathic corneal edema [dup] (disorder) SNOMEDCT_2005_07_31:193813009 contact lens corneal edema Corneal edema due to wearing of contact lenses DOID:11034 ICD9CM:371.24 SNOMEDCT_US_2015_03_01:193816001 SNOMEDCT_US_2015_03_01:49362009 UMLS_CUI:C0474442 disease_ontology Corneal edema due to wearing of contact lenses ICD9CM_2006:371.24 chronic rapidly progressive glomerulonephritis DOID:11036 ICD9CM:582.4 SNOMEDCT_US_2015_03_01:197614002 UMLS_CUI:C0341694 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis chronic rapidly progressive glomerulonephritis (disorder) disease_ontology ICD9CM_2006:582.4 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis SNOMEDCT_2005_07_31:197614002 chronic rapidly progressive glomerulonephritis (disorder) dissociative amnesia A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. DOID:11037 ICD10CM:F44.0 ICD9CM:300.12 MSH:D000647 NCI:C94328 SNOMEDCT_US_2015_03_01:191716000 SNOMEDCT_US_2015_03_01:192420000 SNOMEDCT_US_2015_03_01:84209002 UMLS_CUI:C0236795 disease_ontology psychogenic amnesia A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html CSP2005:2483-7018 psychogenic amnesia depersonalization disorder A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. DOID:11038 ICD9CM:300.6 MSH:D003861 NCI:C94331 Neurotic derealization SNOMEDCT_US_2015_03_01:70764005 UMLS_CUI:C0683416 disease_ontology A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. url:http://en.wikipedia.org/wiki/Depersonalization_disorder MTHICD9_2006:300.6 Neurotic derealization Felty's syndrome A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. DOID:11042 Felty syndrome ICD10CM:M05.0 ICD10CM:M05.00 ICD9CM:714.1 MSH:D005258 NCI:C84712 OMIM mapping confirmed by DO. [SN]. OMIM:134750 Rheumatoid arthritis with splenoadenomegaly and leukopenia SNOMEDCT_US_2015_03_01:156482001 SNOMEDCT_US_2015_03_01:57160007 UMLS_CUI:C0015773 disease_ontology MTHICD9_2006:714.1 Rheumatoid arthritis with splenoadenomegaly and leukopenia A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. url:http://emedicine.medscape.com/article/329734-overview url:http://en.wikipedia.org/wiki/Felty%27s_syndrome url:http://www.medicinenet.com/feltys_syndrome/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm gastroschisis DOID:11044 Gastroschisis (disorder) ICD10CM:Q79.3 ICD9CM:756.73 MSH:D020139 NCI:C84725 OMIM mapping confirmed by DO. [SN]. OMIM:230750 SNOMEDCT_US_2015_03_01:72951007 UMLS_CUI:C0265706 disease_ontology Gastroschisis (disorder) SNOMEDCT_2005_07_31:72951007 meconium aspiration syndrome DOID:11049 ICD10CM:P24.0 ICD10CM:P24.00 ICD10CM:P24.01 MSH:D008471 NCI:C87093 Neonatal aspiration of meconium (disorder) SNOMEDCT_US_2015_03_01:14608006 SNOMEDCT_US_2015_03_01:157110000 SNOMEDCT_US_2015_03_01:206292002 SNOMEDCT_US_2015_03_01:278927005 SNOMEDCT_US_2015_03_01:85779008 UMLS_CUI:C0025048 disease_ontology meconium aspiration Neonatal aspiration of meconium (disorder) SNOMEDCT_2005_07_31:278927005 esophageal metastasis DOID:1105 disease_ontology metastatic tumor to the esophagus true NCI2004_11_17:C7479 metastatic tumor to the esophagus urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. DOID:11054 DOID:5428 ICD10CM:C67 ICD10CM:C67.9 ICD9CM:188 ICD9CM:188.9 KEGG:05219 MSH:D001749 NCI:C2901 NCI:C9334 OMIM mapping confirmed by DO. [SN]. OMIM:109800 SNOMEDCT_US_2015_03_01:126885006 SNOMEDCT_US_2015_03_01:154540000 SNOMEDCT_US_2015_03_01:188248005 SNOMEDCT_US_2015_03_01:269607003 SNOMEDCT_US_2015_03_01:363455001 SNOMEDCT_US_2015_03_01:399326009 SNOMEDCT_US_2015_03_01:93689003 UMLS_CUI:C0005684 UMLS_CUI:C0005695 bladder cancer disease_ontology tumor of the bladder NCI2004_11_17:C2901 tumor of the bladder An urinary system cancer that results_in malignant growth located_in the urinary bladder. url:http://en.wikipedia.org/wiki/Bladder_cancer pasteurellosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. DOID:11055 ICD10CM:A28.0 ICD9CM:027.2 MSH:D010326 Pasteurella infection Pasteurella infectious disease SNOMEDCT_US_2015_03_01:186328008 SNOMEDCT_US_2015_03_01:266086006 SNOMEDCT_US_2015_03_01:276199008 SNOMEDCT_US_2015_03_01:83172007 UMLS_CUI:C0030636 disease_ontology A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. url:http://emedicine.medscape.com/article/224920-clinical#a0217 url:http://en.wikipedia.org/wiki/Pasteurellosis Pasteurella infection SNOMEDCT_2005_07_31:276199008 Pasteurella hemorrhagic septicemia DOID:11056 disease_ontology hemorrhagic septicemia true esophagus lymphoma DOID:1106 Lymphoma of esophagus NCI:C5687 UMLS_CUI:C1333459 disease_ontology Lymphoma of esophagus NCI2004_11_17:C5687 placenta praevia A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. DOID:11060 ICD10CM:O44 MSH:D010923 NCI:C26858 SNOMEDCT_US_2015_03_01:157059004 SNOMEDCT_US_2015_03_01:198930005 SNOMEDCT_US_2015_03_01:36813001 UMLS_CUI:C0032046 disease_ontology A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. url:http://en.wikipedia.org/wiki/Placenta_previa esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:1107 EFO:0002916 NCI:C3513 SNOMEDCT_US_2015_03_01:154441003 SNOMEDCT_US_2015_03_01:255079005 SNOMEDCT_US_2015_03_01:372138000 SNOMEDCT_US_2015_03_01:93785002 UMLS_CUI:C0152018 cancer of esophagus cancer of oesophagus carcinoma OF ESOPHAGUS carcinoma of esophagus (disorder) carcinoma of oesophagus disease_ontology SNOMEDCT_2005_07_31:255079005 carcinoma of esophagus (disorder) SNOMEDCT_2005_07_31:93785002 cancer of oesophagus NCI2004_11_17:C3513 cancer of esophagus SNOMEDCT_2005_07_31:372138000 carcinoma of esophagus (disorder) A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Esophageal_cancer MTH:NOCODE carcinoma OF ESOPHAGUS SNOMEDCT_2005_07_31:154441003 carcinoma of oesophagus cyst of thyroid Cyst of the Thyroid gland Cyst of thyroid Cyst of thyroid (disorder) DOID:11074 Thyroid cyst disease_ontology true Cyst of thyroid (disorder) SNOMEDCT_2005_07_31:72325004 Cyst of the Thyroid gland NCI2004_11_17:C3667 SNOMEDCT_2005_07_31:154669004 Thyroid cyst Cyst of thyroid ICD9CM_2006:246.2 Brucella suis brucellosis A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. DOID:11076 disease_ontology A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm brucellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. Bang's disease DOID:0050060 DOID:11077 Gibraltar fever ICD10CM:A23 ICD10CM:A23.9 ICD9CM:023 ICD9CM:023.9 MSH:D002006 Malta fever Maltese fever Mediterranean fever NCI:C84602 SNOMEDCT_US_2015_03_01:111804008 SNOMEDCT_US_2015_03_01:154296006 SNOMEDCT_US_2015_03_01:186310006 SNOMEDCT_US_2015_03_01:187304000 SNOMEDCT_US_2015_03_01:75702008 UMLS_CUI:C0006309 disease_ontology undulant fever A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm leech infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. DOID:11079 Hirudiniasis ICD10CM:B88.3 ICD9CM:134.2 Leech infestation (disorder) Leeches SNOMEDCT_US_2015_03_01:154423006 SNOMEDCT_US_2015_03_01:266225001 SNOMEDCT_US_2015_03_01:64351000 UMLS_CUI:C0019575 disease_ontology Hirudiniasis ICD9CM_2006:134.2 Leech infestation (disorder) SNOMEDCT_2005_07_31:64351000 A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. url:http://en.wikipedia.org/wiki/Leech url:http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057 Leeches MTHICD9_2006:134.2 esophagus melanoma DOID:1108 NCI:C5707 UMLS_CUI:C1333460 disease_ontology melanoma of esophagus NCI2004_11_17:C5707 melanoma of esophagus myiasis A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. DOID:11080 ICD10CM:B87 ICD10CM:B87.9 ICD9CM:134.0 Infestation by fly larvae (disorder) Infestation by maggots MSH:D009198 Maggot infestation Myiasis, unspecified Myiasis, unspecified (disorder) SNOMEDCT_US_2015_03_01:154423006 SNOMEDCT_US_2015_03_01:187224004 SNOMEDCT_US_2015_03_01:187547004 SNOMEDCT_US_2015_03_01:266225001 SNOMEDCT_US_2015_03_01:60412004 UMLS_CUI:C0027030 disease_ontology Maggot infestation SNOMEDCT_2005_07_31:266225001 Myiasis, unspecified SNOMEDCT_2005_07_31:187224004 Myiasis, unspecified (disorder) SNOMEDCT_2005_07_31:187547004 A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm Infestation by fly larvae (disorder) SNOMEDCT_2005_07_31:60412004 Infestation by maggots MTHICD9_2006:134.0 chorioretinal scar DOID:11086 ICD10CM:H31.0 ICD10CM:H31.00 ICD9CM:363.3 ICD9CM:363.30 SNOMEDCT_US_2015_03_01:193455005 SNOMEDCT_US_2015_03_01:193460009 SNOMEDCT_US_2015_03_01:53854005 UMLS_CUI:C0008512 disease_ontology asphyxia neonatorum Asphyxia - birth Asphyxia NOS in liveborn infant Asphyxia, in liveborn infant (disorder) Birth asphyxia (disorder) DOID:11088 ICD10CM:P84 ICD9CM:768.9 Liveborn with birth asphyxia NOS Liveborn with birth asphyxia NOS (disorder) MSH:D001238 SNOMEDCT_US_2015_03_01:157098009 SNOMEDCT_US_2015_03_01:206278008 SNOMEDCT_US_2015_03_01:268831004 SNOMEDCT_US_2015_03_01:268873007 SNOMEDCT_US_2015_03_01:28314004 SNOMEDCT_US_2015_03_01:413654009 UMLS_CUI:C0004045 Unspecified severity of birth asphyxia in liveborn infant disease_ontology postnatal asphyxia Asphyxia - birth SNOMEDCT_2005_07_31:268873007 Asphyxia, in liveborn infant (disorder) SNOMEDCT_2005_07_31:28314004 Liveborn with birth asphyxia NOS SNOMEDCT_2005_07_31:206278008 Birth asphyxia (disorder) SNOMEDCT_2005_07_31:413654009 ICD9CM_2006:768.9 Unspecified severity of birth asphyxia in liveborn infant Liveborn with birth asphyxia NOS (disorder) SNOMEDCT_2005_07_31:268831004 Asphyxia NOS in liveborn infant MTHICD9_2006:768.9 CSP2005:0726-3340 postnatal asphyxia Asphyxia - birth SNOMEDCT_2005_07_31:157098009 extracutaneous melanoma DOID:1109 disease_ontology true perinatal respiratory disorder DOID:11091 Perinatal respiratory problems NOS Perinatal respiratory problems NOS (disorder) Unspecified respiratory condition of fetus and newborn disease_ontology respiratory condition of fetus OR newborn (disorder) true Perinatal respiratory problems NOS SNOMEDCT_2005_07_31:157108002 ICD9CM_2006:770.9 Unspecified respiratory condition of fetus and newborn Perinatal respiratory problems NOS (disorder) SNOMEDCT_2005_07_31:206327004 Perinatal respiratory problems NOS SNOMEDCT_2005_07_31:157115005 SNOMEDCT_2005_07_31:17849001 respiratory condition of fetus OR newborn (disorder) Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. DOID:11092 Enteric paratyphosis Salmonella food poisoning Salmonella food poisoning (disorder) Salmonella gastroenteritis Salmonella gastroenteritis (disorder) Salmonella gastroenteritis [Ambiguous] Salmonellosis Salmonellosis (& [gastroenteritis] or [food poisoning]) disease_ontology true SNOMEDCT_2005_07_31:266072007 Salmonella gastroenteritis [Ambiguous] Enteric paratyphosis SNOMEDCT_2005_07_31:170879007 MTHICD9_2006:003.0 Salmonellosis SNOMEDCT_2005_07_31:154271008 Salmonella gastroenteritis SNOMEDCT_2005_07_31:186094005 Salmonellosis (& [gastroenteritis] or [food poisoning]) ICD9CM_2006:003.0 Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. url:http://www.ncbi.nlm.nih.gov/sites/entrez/12631900 SNOMEDCT_2005_07_31:42338000 Salmonella gastroenteritis (disorder) SNOMEDCT_2005_07_31:302229004 Salmonella food poisoning (disorder) bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. Bacterial gastroenteritis (disorder) DOID:0050128 DOID:11093 Gastroenteritis - bact. bacterial diarrhea disease_ontology true A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. url:http://www.nlm.nih.gov/medlineplus/ency/article/000254.htm Gastroenteritis - bact. SNOMEDCT_2005_07_31:266173000 Gastroenteritis - bact. SNOMEDCT_2005_07_31:154268000 Bacterial gastroenteritis (disorder) SNOMEDCT_2005_07_31:274080003 renal syphilis DOID:11096 Syphilis of kidney Syphilis of kidney (disorder) disease_ontology true SNOMEDCT_2005_07_31:59530001 Syphilis of kidney (disorder) ICD9CM_2006:095.4 Syphilis of kidney pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. DOID:11097 Syphilis of lung (disorder) disease_ontology true SNOMEDCT_2005_07_31:8555001 Syphilis of lung (disorder) A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. url:http://sti.bmj.com/cgi/reprint/4/4/290.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf primary Rickettsiaceae infectious disease DOID:11099 disease_ontology true gastrointestinal melanoma DOID:1110 disease_ontology true Q fever A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. DOID:11100 ICD10CM:A78 ICD9CM:083.0 Infection due to Coxiella burnetii (disorder) MSH:D011778 NCI:C34970 SNOMEDCT_US_2015_03_01:154375001 SNOMEDCT_US_2015_03_01:186788009 SNOMEDCT_US_2015_03_01:260588007 SNOMEDCT_US_2015_03_01:266205000 SNOMEDCT_US_2015_03_01:86012006 UMLS_CUI:C0034362 disease_ontology Infection due to Coxiella burnetii (disorder) SNOMEDCT_2005_07_31:260588007 A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.cdc.gov/qfever/symptoms/index.html url:http://www.ncbi.nlm.nih.gov/pubmed/15021054 trench fever A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. DOID:11101 His-Werner disease ICD10CM:A79.0 ICD9CM:083.1 MSH:D014205 Quintan fever SNOMEDCT_US_2015_03_01:82214002 Trench fever Trench fever (disorder) UMLS_CUI:C0040830 Wolhynian fever disease_ontology shin bone fever tibialgic fever SNOMEDCT_2005_07_31:82214002 Trench fever (disorder) MTHICD9_2006:083.1 Wolhynian fever A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. url:http://emedicine.medscape.com/article/230294-clinical url:http://en.wikipedia.org/wiki/Trench_fever ICD9CM_2006:083.1 Trench fever bartonellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. Bartonella infectious disease DOID:11102 ICD10CM:A44 ICD10CM:A44.9 ICD9CM:088.0 MSH:D001474 NCI:C84586 Rochalimaea infection (disorder) SNOMEDCT_US_2015_03_01:17116008 SNOMEDCT_US_2015_03_01:186824002 SNOMEDCT_US_2015_03_01:187340003 SNOMEDCT_US_2015_03_01:240454008 SNOMEDCT_US_2015_03_01:240623002 SNOMEDCT_US_2015_03_01:266123003 UMLS_CUI:C0004771 bartonelliasis disease_ontology A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. url:http://en.wikipedia/org/wiki/Bartonellosis CSP2005:2623-6984 bartonelliasis Rochalimaea infection (disorder) SNOMEDCT_2005_07_31:240623002 rickettsialpox A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. DOID:0050037 DOID:11103 ICD10CM:A79.1 ICD9CM:083.2 MSH:D012288 Rickettsia akari spotted fever SNOMEDCT_US_2015_03_01:75096007 UMLS_CUI:C0035597 Vesicular rickettsiosis disease_ontology MTHICD9_2006:083.2 Vesicular rickettsiosis A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. url:http://emedicine.medscape.com/article/227956-overview#a0104 url:http://www.cdc.gov/otherspottedfever/index.html spotted fever A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. DOID:11104 ICD10CM:A77 ICD10CM:A77.9 ICD9CM:082.0 SNOMEDCT_US_2015_03_01:186771002 SNOMEDCT_US_2015_03_01:186773004 SNOMEDCT_US_2015_03_01:187385002 Spotted fever group rickettsial disease (disorder) UMLS_CUI:C0038041 disease_ontology SNOMEDCT_2005_07_31:186771002 Spotted fever group rickettsial disease (disorder) A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. url:http://emedicine.medscape.com/article/785659-overview#a0104 url:http://www.cdc.gov/otherspottedfever/index.html fundus albipunctatus A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. DOID:11105 ICD10CM:H35.52 ICD9CM:362.74 MSH:C562733 OMIM mapping confirmed by DO. [SN]. OMIM:136880 Pigmentary retinal dystrophy SNOMEDCT_US_2015_03_01:68222009 UMLS_CUI:C0311338 disease_ontology retinitis punctata albescens A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. url:http://www.omim.org/entry/136880 ICD9CM_2006:362.74 Pigmentary retinal dystrophy glaucoma associated with anterior segment anomaly DOID:11106 Glaucoma associated with anterior segment anomaly (disorder) Glaucoma associated with other anterior segment anomalies disease_ontology true Glaucoma associated with other anterior segment anomalies ICD9CM_2006:365.43 Glaucoma associated with anterior segment anomaly (disorder) SNOMEDCT_2005_07_31:45623002 glaucoma associated with ocular disorder DOID:11107 disease_ontology true malignant neoplasm of cervical part of esophagus DOID:1111 disease_ontology malignant neoplasm of cervical esophagus malignant neoplasm of cervical oesophagus malignant neoplasm of the cervical esophagus malignant tumor of cervical part of esophagus (disorder) true SNOMEDCT_2005_07_31:93750002 malignant neoplasm of cervical oesophagus SNOMEDCT_2005_07_31:187722004 malignant tumor of cervical part of esophagus (disorder) ICD9CM_2006:150.0 malignant neoplasm of cervical esophagus NCI2004_11_17:C4763 malignant neoplasm of the cervical esophagus psychosexual dysfunction with female orgasmic disease DOID:11110 disease_ontology true hydronephrosis DOID:11111 ICD10CM:N13.30 ICD9CM:591 MSH:D006869 NCI:C26796 SNOMEDCT_US_2015_03_01:155866001 SNOMEDCT_US_2015_03_01:197791000 SNOMEDCT_US_2015_03_01:43064006 UMLS_CUI:C0020295 disease_ontology syphilitic retrobulbar neuritis DOID:11118 Syphilitic retrobulbar neuritis (disorder) disease_ontology true SNOMEDCT_2005_07_31:36276008 Syphilitic retrobulbar neuritis (disorder) Gilles de la Tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. DOID:11119 EFO:0004895 Guinon's disease ICD10CM:F95.2 ICD9CM:307.23 MSH:D005879 NCI:C35078 OMIM mapping confirmed by DO. [SN]. OMIM:137580 Psychogenic tics SNOMEDCT_US_2015_03_01:154936002 SNOMEDCT_US_2015_03_01:192624004 SNOMEDCT_US_2015_03_01:268778009 SNOMEDCT_US_2015_03_01:39098006 SNOMEDCT_US_2015_03_01:5158005 Tourette syndrome UMLS_CUI:C0040517 disease_ontology motor-verbal tic disorder Psychogenic tics SNOMEDCT_2005_07_31:268778009 MTHICD9_2006:307.23 motor-verbal tic disorder A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. url:http://emedicine.medscape.com/article/1182258-overview url:http://en.wikipedia.org/wiki/Tic_disorder url:http://en.wikipedia.org/wiki/Tourette%27s_disorder CSP2005:2042-5068 Guinon's disease neck cancer DOID:1112 cancer of neck disease_ontology malignant neoplasm of neck malignant neoplasm of neck NOS (disorder) malignant tumor of neck (disorder) malignant tumor of the neck neck cancer true SNOMEDCT_2005_07_31:363489000 malignant tumor of neck (disorder) CSP2005:2005-4325 neck cancer NCI2004_11_17:C4940 malignant tumor of the neck SNOMEDCT_2005_07_31:188358006 malignant neoplasm of neck NOS (disorder) SNOMEDCT_2005_07_31:93922007 malignant neoplasm of neck psychologic dyspareunia DOID:11120 Dyspareunia, psychogenic ICD10CM:F52.6 ICD9CM:302.76 Non-organic dyspareunia Psychologic dyspareunia (disorder) SNOMEDCT_US_2015_03_01:154905005 SNOMEDCT_US_2015_03_01:192470002 SNOMEDCT_US_2015_03_01:268762007 SNOMEDCT_US_2015_03_01:41021005 UMLS_CUI:C0154466 disease_ontology Non-organic dyspareunia SNOMEDCT_2005_07_31:192470002 Dyspareunia, psychogenic ICD9CM_2006:302.76 Psychologic dyspareunia (disorder) SNOMEDCT_2005_07_31:41021005 pulpitis DOID:11121 ICD10CM:K04.0 ICD9CM:522.0 MSH:D011671 NCI:C52595 SNOMEDCT_US_2015_03_01:155638006 SNOMEDCT_US_2015_03_01:196331007 SNOMEDCT_US_2015_03_01:32620007 UMLS_CUI:C0034103 disease_ontology pulpitis (disorder) pulpitis NOS (disorder) SNOMEDCT_2005_07_31:32620007 pulpitis (disorder) SNOMEDCT_2005_07_31:196331007 pulpitis NOS (disorder) Henoch-Schoenlein purpura Allergic purpura Allergic purpura (disorder) Allergic purpura NOS (disorder) Autoimmune purpura (disorder) [Ambiguous] DOID:11123 Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Henoch-Schonlein purpura (disorder) ICD10CM:D69.0 ICD9CM:287.0 MSH:D011695 NCI:C34963 Purpura, autoimmune Purpura: [allergic] or [Henoch-Schonlein allergy] SNOMEDCT_US_2015_03_01:154823001 SNOMEDCT_US_2015_03_01:191305009 SNOMEDCT_US_2015_03_01:191306005 SNOMEDCT_US_2015_03_01:191308006 SNOMEDCT_US_2015_03_01:21148002 SNOMEDCT_US_2015_03_01:246074004 SNOMEDCT_US_2015_03_01:267565009 SNOMEDCT_US_2015_03_01:31912009 SNOMEDCT_US_2015_03_01:367437009 UMLS_CUI:C0034152 disease_ontology Purpura: [allergic] or [Henoch-Schonlein allergy] SNOMEDCT_2005_07_31:154823001 Autoimmune purpura (disorder) [Ambiguous] SNOMEDCT_2005_07_31:31912009 Allergic purpura ICD9CM_2006:287.0 Allergic purpura NOS (disorder) SNOMEDCT_2005_07_31:191308006 Henoch-Sch@nlein purpura SNOMEDCT_2005_07_31:367437009 MTHICD9_2006:287.0 Purpura, autoimmune Purpura: [allergic] or [Henoch-Schonlein allergy] SNOMEDCT_2005_07_31:267565009 Henoch-Schonlein purpura (disorder) SNOMEDCT_2005_07_31:191306005 Allergic purpura (disorder) SNOMEDCT_2005_07_31:21148002 Allergic purpura SNOMEDCT_2005_07_31:191305009 Henoch-Sch?nlein purpura SNOMEDCT_2005_07_31:246074004 CSP2005:4006-0049 Henoch-Scholein purpura Henoch-Schonlein Purpura NCI2004_11_17:C34963 qualitative platelet defect DOID:11125 ICD10CM:D69.1 ICD9CM:287.1 Qualitative platelet deficiency NOS (disorder) SNOMEDCT_US_2015_03_01:191309003 SNOMEDCT_US_2015_03_01:191311007 SNOMEDCT_US_2015_03_01:267532001 UMLS_CUI:C0235604 disease_ontology Qualitative platelet deficiency NOS (disorder) SNOMEDCT_2005_07_31:191311007 acquired thrombocytopenia DOID:11126 ICD10CM:D69.5 ICD9CM:287.4 SNOMEDCT_US_2015_03_01:154826009 SNOMEDCT_US_2015_03_01:191325008 SNOMEDCT_US_2015_03_01:267537007 SNOMEDCT_US_2015_03_01:74576004 UMLS_CUI:C0154301 acquired thrombocytopenia (disorder) disease_ontology secondary thrombocytopenia secondary thrombocytopenia NOS secondary thrombocytopenia NOS (disorder) SNOMEDCT_2005_07_31:154826009 secondary thrombocytopenia SNOMEDCT_2005_07_31:74576004 acquired thrombocytopenia (disorder) ICD9CM_2006:287.4 secondary thrombocytopenia SNOMEDCT_2005_07_31:191325008 secondary thrombocytopenia NOS SNOMEDCT_2005_07_31:267537007 secondary thrombocytopenia NOS (disorder) dislocation of ear ossicle DOID:11129 ICD9CM:385.23 UMLS_CUI:C0155487 disease_ontology malignant esophageal neoplasm by anatomic region DOID:1113 disease_ontology true secondary hypertension DOID:11130 ICD10CM:I15 ICD10CM:I15.9 ICD9CM:405 ICD9CM:405.9 NCI:C3657 SNOMEDCT_US_2015_03_01:155300002 SNOMEDCT_US_2015_03_01:194789002 SNOMEDCT_US_2015_03_01:194792003 SNOMEDCT_US_2015_03_01:31992008 UMLS_CUI:C0155616 disease_ontology prostatic hypertrophy DOID:11132 disease_ontology prostatic cyst Cyst of prostate DOID:11133 ICD10CM:N42.83 ICD9CM:600.3 Prostatic cyst (disorder) SNOMEDCT_US_2015_03_01:409658007 UMLS_CUI:C1443972 disease_ontology Cyst of prostate ICD9CM_2006:600.3 Prostatic cyst (disorder) SNOMEDCT_2005_07_31:409658007 prolapse of lacrimal gland DOID:11134 Dislocation of lacrimal gland Dislocation of lacrimal gland (disorder) ICD10CM:H04.16 ICD9CM:375.16 SNOMEDCT_US_2015_03_01:84777002 UMLS_CUI:C0155231 disease_ontology Dislocation of lacrimal gland (disorder) SNOMEDCT_2005_07_31:84777002 Dislocation of lacrimal gland ICD9CM_2006:375.16 esophagus sarcoma An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. DOID:1114 NCI:C5341 UMLS_CUI:C1333466 disease_ontology esophageal sarcoma An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. url:http://en.wikipedia.org/wiki/Sarcoma url:http://www.google.com/search?hl=en&client=firefox-a&hs=X3f&rls=org.mozilla:en-US:official&ei=wxHfS4jAC4a8NualnMwH&sa=X&oi=spell&resnum=0&ct=result&cd=1&ved=0CA0QBSgA&q=esophageal+sarcoma&spell=1 anthrax septicemia Anthrax septicemia (disorder) DOID:11144 disease_ontology true Anthrax septicemia (disorder) SNOMEDCT_2005_07_31:14972006 Pars plana primary cyst DOID:11145 disease_ontology primary cyst of pars plana primary cyst of pars plana (disorder) true ICD9CM_2006:364.63 primary cyst of pars plana SNOMEDCT_2005_07_31:47269005 primary cyst of pars plana (disorder) vascular lesions of cord complicating labor and delivery DOID:11146 DOID:11147 DOID:14083 antepartum vascular lesions of cord complicating labor and delivery disease_ontology true vascular lesions of cord complicating labor and delivery, delivered hypersecretion glaucoma DOID:11148 ICD10CM:H40.82 ICD9CM:365.81 SNOMEDCT_US_2015_03_01:29369005 UMLS_CUI:C0154968 disease_ontology hypersecretion glaucoma (disorder) SNOMEDCT_2005_07_31:29369005 hypersecretion glaucoma (disorder) aqueous misdirection DOID:11149 ICD10CM:H40.83 ICD9CM:365.83 UMLS_CUI:C1135189 disease_ontology sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm. DOID:1115 DOID:3936 ICD10CM:C49 ICD9CM:171 ICD9CM:171.9 SNOMEDCT_US_2015_03_01:187985009 SNOMEDCT_US_2015_03_01:93765001 UMLS_CUI:C0153519 connective and soft tissue neoplasm disease_ontology tumor of soft tissue and skeleton NCI2004_11_17:C3810 tumor of soft tissue and skeleton A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm. url:http://cancergenome.nih.gov/cancersselected/Sarcoma url:http://en.wikipedia.org/wiki/Sarcoma url:http://www.cancer.gov/dictionary?CdrID=45562 glaucoma due to raised episcleral venous pressure DOID:11150 Glaucoma with increased episcleral venous pressure Glaucoma with increased episcleral venous pressure (disorder) disease_ontology true Glaucoma with increased episcleral venous pressure ICD9CM_2006:365.82 Glaucoma with increased episcleral venous pressure (disorder) SNOMEDCT_2005_07_31:34623005 cholecystolithiasis DOID:11151 MSH:D041761 NCI:C34443 SNOMEDCT_US_2015_03_01:197376000 SNOMEDCT_US_2015_03_01:235919008 SNOMEDCT_US_2015_03_01:266541001 SNOMEDCT_US_2015_03_01:44900007 UMLS_CUI:C0947622 disease_ontology miliaria rubra DOID:11153 ICD10CM:L74.0 ICD10CM:L74.2 ICD9CM:705.1 MSH:D008883 Miliaria crystallina (disorder) Miliaria rubra Prickly heat Prickly heat (disorder) Prickly heat - miliaria Prickly heat NOS (disorder) SNOMEDCT_US_2015_03_01:156415007 SNOMEDCT_US_2015_03_01:201190003 SNOMEDCT_US_2015_03_01:201194007 SNOMEDCT_US_2015_03_01:201197000 SNOMEDCT_US_2015_03_01:267813002 SNOMEDCT_US_2015_03_01:44279002 SNOMEDCT_US_2015_03_01:72658003 Sudamina UMLS_CUI:C0162423 disease_ontology Miliaria crystallina (disorder) SNOMEDCT_2005_07_31:44279002 MTHICD9_2006:705.1 Sudamina Prickly heat NOS (disorder) SNOMEDCT_2005_07_31:201197000 Prickly heat (disorder) SNOMEDCT_2005_07_31:72658003 Miliaria rubra SNOMEDCT_2005_07_31:156415007 Miliaria rubra SNOMEDCT_2005_07_31:267813002 ICD9CM_2006:705.1 Prickly heat Prickly heat - miliaria SNOMEDCT_2005_07_31:201190003 Miliaria rubra SNOMEDCT_2005_07_31:201194007 hypohidrosis DOID:11155 Hypohidrosis (disorder) ICD10CM:L74.4 MSH:D007007 NCI:C34718 Oligohidrosis SNOMEDCT_US_2015_03_01:201189007 SNOMEDCT_US_2015_03_01:45004005 UMLS_CUI:C0020620 disease_ontology Hypohidrosis (disorder) SNOMEDCT_2005_07_31:45004005 MTHICD9_2006:705.0 Oligohidrosis Oligohidrosis SNOMEDCT_2005_07_31:201189007 anhidrosis Adiaphoresis Anhidrosis (disorder) DOID:11156 ICD10CM:L74.4 ICD9CM:705.0 MSH:D007007 NCI:C34385 OMIM mapping confirmed by DO. [SN]. OMIM:206600 SNOMEDCT_US_2015_03_01:14662005 SNOMEDCT_US_2015_03_01:156414006 SNOMEDCT_US_2015_03_01:201189007 SNOMEDCT_US_2015_03_01:39659002 UMLS_CUI:C0003028 absence of sweating (finding) disease_ontology Adiaphoresis NCI2004_11_17:C34385 SNOMEDCT_2005_07_31:14662005 absence of sweating (finding) Anhidrosis (disorder) SNOMEDCT_2005_07_31:39659002 disorder of optic chiasm associated with non-pituitary neoplasm DOID:11158 disease_ontology disorder of optic chiasm associated with non-pituitary neoplasm (disorder) disorder of optic chiasm associated with other neoplasm true ICD9CM_2006:377.52 disorder of optic chiasm associated with other neoplasm SNOMEDCT_2005_07_31:64246009 disorder of optic chiasm associated with non-pituitary neoplasm (disorder) pertussis A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). DOID:1116 DOID:11333 DOID:11751 KEGG:05133 MSH:D001885 SNOMEDCT_US_2015_03_01:26484003 UMLS_CUI:C0006015 WC - Whooping cough bordetella infection disease_ontology whooping cough A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 SNOMEDCT_2005_07_31:27836007 WC - Whooping cough CSP2005:0368-3326 whooping cough neonatal respiratory failure DOID:11161 ICD10CM:P28.5 ICD9CM:770.84 Neonatal respiratory failure (disorder) SNOMEDCT_US_2015_03_01:206317005 SNOMEDCT_US_2015_03_01:95619009 UMLS_CUI:C0521648 disease_ontology respiratory failure of newborn Neonatal respiratory failure (disorder) SNOMEDCT_2005_07_31:95619009 ICD9CM_2006:770.84 respiratory failure of newborn SNOMEDCT_2005_07_31:206317005 respiratory failure of newborn respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system. DOID:11162 DOID:11391 DOID:11392 DOID:11393 ICD10CM:J96.0 ICD9CM:518.81 NCI:C27043 SNOMEDCT_US_2015_03_01:65710008 UMLS_CUI:C0264490 acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure (disorder) chronic respiratory failure disease_ontology respiratory insufficiency/failure A lung disease characterized by inadequate gas exchange by the respiratory system. url:http://en.wikipedia.org/wiki/Respiratory_failure NCI2004_11_17:C27043 acute respiratory Failure SNOMEDCT_2005_07_31:67905004 acute-on-chronic respiratory failure (disorder) ICD9CM_2006:518.84 acute and chronic respiratory failure CSP2005:2596-8662 respiratory insufficiency/failure apnea of prematurity DOID:11163 disease_ontology primary apnea of newborn true band keratopathy Band-shaped keratopathy Band-shaped keratopathy (disorder) DOID:11164 ICD10CM:H18.42 ICD9CM:371.43 MSH:C562399 OMIM mapping confirmed by DO. [SN]. OMIM:217500 SNOMEDCT_US_2015_03_01:35055000 UMLS_CUI:C0155120 disease_ontology Band-shaped keratopathy (disorder) SNOMEDCT_2005_07_31:35055000 Band-shaped keratopathy ICD9CM_2006:371.43 common wart A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. DOID:11165 ICD10CM:B07 ICD10CM:B07.8 ICD9CM:078.1 MSH:D014860 NCI:C27087 NCI:C5028 SNOMEDCT_US_2015_03_01:123201004 SNOMEDCT_US_2015_03_01:154361008 SNOMEDCT_US_2015_03_01:186685000 SNOMEDCT_US_2015_03_01:186686004 SNOMEDCT_US_2015_03_01:266198004 SNOMEDCT_US_2015_03_01:30285000 SNOMEDCT_US_2015_03_01:367507002 SNOMEDCT_US_2015_03_01:57019003 SNOMEDCT_US_2015_03_01:75003008 UMLS_CUI:C0043037 disease_ontology A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. url:http://emedicine.medscape.com/article/219110-overview url:http://en.wikipedia.org/wiki/Wart papillomavirus infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. DOID:11166 DOID:4146 Human papilloma Virus Infection Human papilloma virus infection (disorder) Human papilloma virus infection, NOS Tumor Virus Infections disease_ontology human papilloma virus infectious disease true Human papilloma virus infection, NOS SNOMEDCT_2005_07_31:367507002 SNOMEDCT_2005_07_31:75003008 A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. url:http://emedicine.medscape.com/article/219110-overview Human papilloma Virus Infection NCI2004_11_17:C27851 Human papilloma virus infection (disorder) SNOMEDCT_2005_07_31:240532009 uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. Condyloma of the Cervix Uteri DOID:11167 disease_ontology true An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. url:http://emedicine.medscape.com/article/781735-overview Condyloma of the Cervix Uteri NCI2004_11_17:C8421 anogenital venereal wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. Anogenital Human papilloma Virus Infectious Disease Anogenital warts (disorder) Condyloma acuminatum DOID:11168 DOID:7877 Genital warts ICD10CM:A63.0 ICD9CM:078.11 MSH:D003218 NCI:C2960 NCI:C4820 SNOMEDCT_US_2015_03_01:123157002 SNOMEDCT_US_2015_03_01:154361008 SNOMEDCT_US_2015_03_01:154365004 SNOMEDCT_US_2015_03_01:186688003 SNOMEDCT_US_2015_03_01:22020001 SNOMEDCT_US_2015_03_01:240542006 SNOMEDCT_US_2015_03_01:266113007 SNOMEDCT_US_2015_03_01:266198004 SNOMEDCT_US_2015_03_01:302812006 UMLS_CUI:C0009663 UMLS_CUI:C0554632 disease_ontology genital wart virus infectious disease venereal wart Anogenital warts (disorder) SNOMEDCT_2005_07_31:240542006 CSP2005:2020-4312 venereal wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html Anogenital Human papilloma Virus Infectious Disease NCI2004_11_17:C4820 Condyloma acuminatum ICD9CM_2006:078.11 Genital warts SNOMEDCT_2005_07_31:154365004 vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. DOID:11169 disease_ontology true vaginal Condyloma Acuminatum An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. url:http://emedicine.medscape.com/article/781735-overview NCI2004_11_17:C4947 vaginal Condyloma Acuminatum vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. Condyloma acuminata of vulva (disorder) DOID:11170 Vulvar Condyloma disease_ontology true NCI2004_11_17:C4382 Vulvar Condyloma An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. url:http://emedicine.medscape.com/article/781735-overview Condyloma acuminata of vulva (disorder) SNOMEDCT_2005_07_31:237110007 urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. DOID:11171 disease_ontology true urethral Condylomata NCI2004_11_17:C6169 urethral Condylomata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. url:http://emedicine.medscape.com/article/781735-overview anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. Condylomata of anus DOID:11172 disease_ontology true An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. url:http://emedicine.medscape.com/article/781735-overview Condylomata of anus NCI2004_11_17:C4054 enophthalmos DOID:11175 Enophthalmos (disorder) Enophthalmos NOS (disorder) Enophthalmos, unspecified as to cause ICD10CM:H05.4 ICD10CM:H05.40 ICD9CM:376.5 ICD9CM:376.50 MSH:D015841 NCI:C79552 SNOMEDCT_US_2015_03_01:155200004 SNOMEDCT_US_2015_03_01:194031000 SNOMEDCT_US_2015_03_01:267746003 SNOMEDCT_US_2015_03_01:80093006 UMLS_CUI:C0014306 disease_ontology Enophthalmos NOS (disorder) SNOMEDCT_2005_07_31:194031000 Enophthalmos, unspecified as to cause ICD9CM_2006:376.50 Enophthalmos (disorder) SNOMEDCT_2005_07_31:80093006 total internal ophthalmoplegia DOID:11177 ICD9CM:367.52 SNOMEDCT_US_2015_03_01:193630009 SNOMEDCT_US_2015_03_01:86266009 Total internal ophthalmoplegia (disorder) Total or complete internal ophthalmoplegia UMLS_CUI:C0152197 disease_ontology ICD9CM_2006:367.52 Total or complete internal ophthalmoplegia SNOMEDCT_2005_07_31:86266009 Total internal ophthalmoplegia (disorder) otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. DOID:11179 Glue ear Mucoid otitis media Mucoid otitis media NOS (disorder) Otitis media with effusion Otitis media with effusion - mucoid Otitis media, transudative Secretory Otitis Media Transudative otitis media disease_ontology true NCI2004_11_17:C34886 Secretory Otitis Media MTHICD9_2006:381.4 Otitis media, transudative Mucoid otitis media SNOMEDCT_2005_07_31:267754001 A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion Otitis media with effusion SNOMEDCT_2005_07_31:232255003 Glue ear SNOMEDCT_2005_07_31:194251006 Mucoid otitis media SNOMEDCT_2005_07_31:62450001 Glue ear MTHICD9_2006:381.2 Otitis media with effusion - mucoid SNOMEDCT_2005_07_31:78868004 SNOMEDCT_2005_07_31:43481006 Transudative otitis media Mucoid otitis media SNOMEDCT_2005_07_31:155220003 Mucoid otitis media NOS (disorder) SNOMEDCT_2005_07_31:194264007 non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. DOID:11180 ICD10CM:H65 ICD10CM:H65.9 ICD10CM:H65.90 ICD9CM:381.4 Non supp. otitis media Non-suppurative otitis media (disorder) Non-suppurative otitis media NOS (disorder) Nonsuppurative otitis media (disorder) Nonsuppurative otitis media, not specified as acute or chronic SNOMEDCT_US_2015_03_01:194260003 SNOMEDCT_US_2015_03_01:194265008 SNOMEDCT_US_2015_03_01:267753007 SNOMEDCT_US_2015_03_01:275481002 SNOMEDCT_US_2015_03_01:45935001 UMLS_CUI:C0271446 Unspecified non-suppurative otitis media (disorder) disease_ontology Non supp. otitis media SNOMEDCT_2005_07_31:267753007 Nonsuppurative otitis media (disorder) SNOMEDCT_2005_07_31:45935001 ICD9CM_2006:381.4 Nonsuppurative otitis media, not specified as acute or chronic Non-suppurative otitis media (disorder) SNOMEDCT_2005_07_31:275481002 Non-suppurative otitis media NOS (disorder) SNOMEDCT_2005_07_31:194265008 SNOMEDCT_2005_07_31:194260003 Unspecified non-suppurative otitis media (disorder) A otitis media which involves transudation of fluid in the middle ear without pus formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 serous glue ear A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. DOID:11181 ICD10CM:H65.2 ICD10CM:H65.20 ICD9CM:381.1 SNOMEDCT_US_2015_03_01:155219009 SNOMEDCT_US_2015_03_01:194245001 SNOMEDCT_US_2015_03_01:194250007 SNOMEDCT_US_2015_03_01:81564005 UMLS_CUI:C0155421 disease_ontology A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. DOID:11182 disease_ontology true A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false Haemophilus influenzae septicemia DOID:11183 Hemophilus influenzae septicemia (disorder) Septicemia due to H. influenzae Septicemia due to hemophilus influenzae [H. influenzae] disease_ontology true MTHICD9_2006:038.41 Septicemia due to H. influenzae Hemophilus influenzae septicemia (disorder) SNOMEDCT_2005_07_31:23863009 ICD9CM_2006:038.41 Septicemia due to hemophilus influenzae [H. influenzae] acute conjunctivitis DOID:11184 ICD10CM:H10.02 ICD9CM:372.03 UMLS_CUI:C0029668 disease_ontology allescheriosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. Allescheriosis (disorder) Allescheriosis [Petriellidosis] DOID:11186 ICD10CM:B48.2 ICD9CM:117.6 Petriellidosis SNOMEDCT_US_2015_03_01:80936003 UMLS_CUI:C0153285 disease_ontology MTHICD9_2006:117.6 Petriellidosis Allescheriosis (disorder) SNOMEDCT_2005_07_31:80936003 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. url:http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/934264 Allescheriosis [Petriellidosis] ICD9CM_2006:117.6 pulp degeneration DOID:11189 ICD10CM:K04.2 ICD9CM:522.2 NCI:C34962 SNOMEDCT_US_2015_03_01:196335003 SNOMEDCT_US_2015_03_01:22361007 UMLS_CUI:C0034100 disease_ontology large for dates affecting management of mother DOID:10214 DOID:1118 DOID:1119 Excessive fetal growth affecting management of mother, delivered Excessive fetal growth, affecting management of mother, antepartum Excessive fetal growth, affecting management of mother, delivered antepartum excessive fetal growth affecting management of mother disease_ontology true Excessive fetal growth, affecting management of mother, delivered ICD9CM_2006:656.61 Excessive fetal growth, affecting management of mother, antepartum ICD9CM_2006:656.63 pseudomembranous conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. DOID:11190 ICD10CM:H10.22 ICD9CM:372.04 NCI:C35196 Pseudomembranous Conjunctivitis Pseudomembranous conjunctivitis (disorder) SNOMEDCT_US_2015_03_01:193862009 SNOMEDCT_US_2015_03_01:267643002 SNOMEDCT_US_2015_03_01:72115001 UMLS_CUI:C0155144 disease_ontology NCI2004_11_17:C35196 Pseudomembranous Conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. url:http://bjo.bmj.com/content/55/5/312.full.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/9400798 Pseudomembranous conjunctivitis (disorder) SNOMEDCT_2005_07_31:72115001 syndactyly A synostosis that results_in the fusion of two or more digits. DOID:11193 ICD10CM:Q70 ICD10CM:Q70.9 ICD9CM:755.1 MSH:D013576 NCI:C87125 OMIM:185900 OMIM:186100 OMIM:186200 OMIM:186300 ORDO:295012 ORDO:90025 ORDO:93402 ORDO:93403 ORDO:93404 ORDO:93406 SNOMEDCT_US_2015_03_01:111313001 SNOMEDCT_US_2015_03_01:156989004 SNOMEDCT_US_2015_03_01:205151006 SNOMEDCT_US_2015_03_01:253975004 SNOMEDCT_US_2015_03_01:268252004 SNOMEDCT_US_2015_03_01:373413006 SNOMEDCT_US_2015_03_01:75352001 UMLS_CUI:C0039075 Xref MGI. chromosome 2q35 duplication syndrome disease_ontology symphalangism symphalangy (disorder) webbing of digits SNOMEDCT_2005_07_31:75352001 symphalangy (disorder) A synostosis that results_in the fusion of two or more digits. url:http://emedicine.medscape.com/article/1244420-overview url:http://en.wikipedia.org/wiki/Syndactyly url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm url:http://www.wheelessonline.com/ortho/syndactyly MTHICD9_2006:755.1 webbing of digits OMIM:185900 chromosome 2q35 duplication syndrome SNOMEDCT_2005_07_31:253975004 symphalangism acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. DOID:11195 ICD10CM:J06.0 ICD9CM:465.0 SNOMEDCT_US_2015_03_01:55355000 UMLS_CUI:C0155817 acute laryngopharyngitis (disorder) disease_ontology SNOMEDCT_2005_07_31:55355000 acute laryngopharyngitis (disorder) An upper respiratory tract disease which involves inflammation of both larynx and pharynx. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis serous conjunctivitis except viral DOID:11197 ICD10CM:H10.23 ICD9CM:372.01 SNOMEDCT_US_2015_03_01:9824006 UMLS_CUI:C0155142 disease_ontology serous conjunctivitis, except viral (disorder) SNOMEDCT_2005_07_31:9824006 serous conjunctivitis, except viral (disorder) DiGeorge syndrome A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. DOID:11198 DiGeorge sequence (disorder) DiGeorge's syndrome ICD10CM:D82.1 ICD9CM:279.11 MSH:D004062 NCI:C2989 OMIM mapping confirmed by DO. [SN]. OMIM:188400 Pharyngeal pouch syndrome SNOMEDCT_US_2015_03_01:190991007 SNOMEDCT_US_2015_03_01:77128003 UMLS_CUI:C0012236 disease_ontology A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. url:http://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome MTHICD9_2006:279.11 Pharyngeal pouch syndrome DiGeorge sequence (disorder) SNOMEDCT_2005_07_31:77128003 DiGeorge's syndrome NCI2004_11_17:C2989 hypoparathyroidism A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. DOID:11199 ICD10CM:E20 ICD10CM:E20.9 ICD9CM:252.1 MSH:D007011 NCI:C78350 OMIM:146200 OMIM:307700 ORDO:2238 SNOMEDCT_US_2015_03_01:154697005 SNOMEDCT_US_2015_03_01:190457001 SNOMEDCT_US_2015_03_01:267479004 SNOMEDCT_US_2015_03_01:36976004 UMLS_CUI:C0020626 Xref MGI. disease_ontology A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. url:http://en.wikipedia.org/wiki/Hypoparathyroidism url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 esophageal varix Bleeding esophageal varices Bleeding esophageal varices (disorder) Bleeding oesophageal varices DOID:111 DOID:112 DOID:13536 DOID:14031 ICD10CM:I85.01 ICD9CM:456.0 ICD9CM:456.2 ICD9CM:456.20 NCI:C78282 SNOMEDCT_US_2015_03_01:17709002 SNOMEDCT_US_2015_03_01:195474004 SNOMEDCT_US_2015_03_01:195475003 SNOMEDCT_US_2015_03_01:195479009 SNOMEDCT_US_2015_03_01:195643006 SNOMEDCT_US_2015_03_01:236067006 UMLS_CUI:C0155789 UMLS_CUI:C0155791 UMLS_CUI:C0155792 disease_ontology esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC (disorder) esophageal varices without bleeding esophageal varices without bleeding (disorder) esophageal varices without mention of bleeding ICD9CM_2006:456.20 esophageal varices in disease classified elsewhere, with bleeding ICD9CM_2006:456.1 esophageal varices without mention of bleeding ICD9CM_2006:456.0 esophageal varices with bleeding SNOMEDCT_2005_07_31:195475003 esophageal varices with bleeding in disease EC (disorder) SNOMEDCT_2005_07_31:14223005 esophageal varices without bleeding (disorder) Bleeding oesophageal varices SNOMEDCT_2005_07_31:236067006 Bleeding esophageal varices (disorder) SNOMEDCT_2005_07_31:17709002 T cell deficiency DOID:11200 NCI:C27872 UMLS_CUI:C1333147 disease_ontology parathyroid gland disease An endocrine system disease that is located_in the parathyroid gland. DOID:11201 ICD10CM:E21.5 ICD9CM:252 ICD9CM:252.9 MSH:D010279 NCI:C26844 SNOMEDCT_US_2015_03_01:190462000 SNOMEDCT_US_2015_03_01:267478007 SNOMEDCT_US_2015_03_01:73132005 UMLS_CUI:C0030517 disease of parathyroid glands disease_ontology An endocrine system disease that is located_in the parathyroid gland. url:http://en.wikipedia.org/wiki/Parathyroid_disease primary hyperparathyroidism DOID:11202 DOID:14790 ICD10CM:E21.0 ICD9CM:252.01 MSH:D049950 NCI:C48280 OMIM:600166 ORDO:99878 SNOMEDCT_US_2015_03_01:190452007 SNOMEDCT_US_2015_03_01:237653008 SNOMEDCT_US_2015_03_01:36348003 SNOMEDCT_US_2015_03_01:54920000 UMLS_CUI:C0221002 UMLS_CUI:C0271846 Xref MGI. disease_ontology familial benign hypercalcemia (disorder) familial primary hyperparathyroidism primary hyperparathyroidism (disorder) SNOMEDCT_2005_07_31:36348003 primary hyperparathyroidism (disorder) SNOMEDCT_2005_07_31:190868007 familial benign hypercalcemia (disorder) Angelucci's syndrome Angelucci syndrome DOID:11203 ICD10CM:H10.1 ICD9CM:372.05 NCI:C34353 SNOMEDCT_US_2015_03_01:193863004 SNOMEDCT_US_2015_03_01:67678004 UMLS_CUI:C0001309 acute Atopic Conjunctivitis acute atopic conjunctivitis acute atopic conjunctivitis (disorder) disease_ontology SNOMEDCT_2005_07_31:67678004 acute atopic conjunctivitis (disorder) ICD9CM_2006:372.05 acute atopic conjunctivitis SNOMEDCT_2005_07_31:193863004 acute atopic conjunctivitis NCI2004_11_17:C34353 acute Atopic Conjunctivitis allergic conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. DOID:11204 MSH:D003233 NCI:C34506 SNOMEDCT_US_2015_03_01:155168003 SNOMEDCT_US_2015_03_01:193868008 SNOMEDCT_US_2015_03_01:20212001 SNOMEDCT_US_2015_03_01:231854006 SNOMEDCT_US_2015_03_01:473460002 UMLS_CUI:C0009766 disease_ontology A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. DOID:11206 ICD10CM:F11.1 ICD9CM:305.5 SNOMEDCT_US_2015_03_01:5602001 UMLS_CUI:C0029095 disease_ontology A substance abuse that involves the recurring use of opioid drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Opioid buphthalmos DOID:11211 ICD9CM:743.21 OMIM mapping confirmed by DO. [LS]. OMIM:231300 SNOMEDCT_US_2015_03_01:13832009 SNOMEDCT_US_2015_03_01:204116009 SNOMEDCT_US_2015_03_01:268157004 UMLS_CUI:C0311251 disease_ontology simple buphthalmos SNOMEDCT_2005_07_31:268157004 simple buphthalmos hydrophthalmos DOID:11212 ICD10CM:Q15.0 ICD9CM:743.2 ICD9CM:743.20 MSH:D006871 NCI:C50648 SNOMEDCT_US_2015_03_01:13832009 SNOMEDCT_US_2015_03_01:156898000 SNOMEDCT_US_2015_03_01:204111004 SNOMEDCT_US_2015_03_01:204112006 SNOMEDCT_US_2015_03_01:204113001 SNOMEDCT_US_2015_03_01:204114007 SNOMEDCT_US_2015_03_01:204115008 SNOMEDCT_US_2015_03_01:204121007 SNOMEDCT_US_2015_03_01:392368005 SNOMEDCT_US_2015_03_01:392371002 SNOMEDCT_US_2015_03_01:413728006 UMLS_CUI:C0020302 disease_ontology acute contagious conjunctivitis Contagious opthalmia DOID:11213 NCI:C35704 Pink eye Pinkeye SNOMEDCT_US_2015_03_01:155162002 SNOMEDCT_US_2015_03_01:17482009 SNOMEDCT_US_2015_03_01:240066005 SNOMEDCT_US_2015_03_01:267734002 SNOMEDCT_US_2015_03_01:399047004 SNOMEDCT_US_2015_03_01:399219006 UMLS_CUI:C1313983 acute contagious conjunctivitis (disorder) disease_ontology Contagious opthalmia SNOMEDCT_2005_07_31:399047004 Pinkeye SNOMEDCT_2005_07_31:399219006 SNOMEDCT_2005_07_31:240066005 acute contagious conjunctivitis (disorder) Pink eye SNOMEDCT_2005_07_31:155162002 Pink eye SNOMEDCT_2005_07_31:267734002 NCI2004_11_17:C35704 Pinkeye premature rupture of the fetal membranes DOID:11215 DOID:12565 DOID:14540 Premature rupture of membranes - delivered (disorder) antepartum premature rupture of membranes delivered premature rupture of membranes disease_ontology true Premature rupture of membranes - delivered (disorder) SNOMEDCT_2005_07_31:199658006 chronic tympanitis DOID:11217 ICD10CM:H73.1 ICD10CM:H73.10 ICD9CM:384.1 SNOMEDCT_US_2015_03_01:89723004 UMLS_CUI:C0395849 chronic myringitis without mention of otitis media chronic tympanitis (disorder) disease_ontology ICD9CM_2006:384.1 chronic myringitis without mention of otitis media SNOMEDCT_2005_07_31:89723004 chronic tympanitis (disorder) conjunctival folliculosis DOID:11219 ICD10CM:H10.01 ICD9CM:372.02 SNOMEDCT_US_2015_03_01:41308008 UMLS_CUI:C0155143 acute follicular conjunctivitis acute follicular conjunctivitis (disorder) disease_ontology ICD9CM_2006:372.02 acute follicular conjunctivitis SNOMEDCT_2005_07_31:41308008 acute follicular conjunctivitis (disorder) spinal enthesopathy DOID:1122 Spinal enthesopathy (disorder) disease_ontology true SNOMEDCT_2005_07_31:10317009 Spinal enthesopathy (disorder) small intestine diverticulitis DOID:11223 DOID:11224 Diverticulosis of small intestine with hemorrhage ICD9CM:562.02 SNOMEDCT_US_2015_03_01:435061000124102 UMLS_CUI:C0156164 disease_ontology acute hemorrhagic conjunctivitis A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. Apollo disease DOID:11227 Epidemic hemorrhagic conjunctivitis ICD9CM:077.4 MSH:D003232 NCI:C34505 SNOMEDCT_US_2015_03_01:186677009 SNOMEDCT_US_2015_03_01:31502007 SNOMEDCT_US_2015_03_01:398264003 SNOMEDCT_US_2015_03_01:398273006 UMLS_CUI:C0009765 disease_ontology viral conjunctivitis A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm url:http://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm url:http://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf Epidemic hemorrhagic conjunctivitis ICD9CM_2006:077.4 Apollo disease MTHICD9_2006:077.4 spondyloarthropathy DOID:1123 MSH:D025242 OMIM:106300 SNOMEDCT_US_2015_03_01:357182002 SNOMEDCT_US_2015_03_01:359173000 SNOMEDCT_US_2015_03_01:372109003 SNOMEDCT_US_2015_03_01:8847002 UMLS_CUI:C0949691 disease_ontology spondarthropathy spondylarthrosis SNOMEDCT_2005_07_31:359173000 spondarthropathy acute orbital inflammation DOID:11230 ICD10CM:H05.0 ICD10CM:H05.00 ICD9CM:376.0 ICD9CM:376.00 SNOMEDCT_US_2015_03_01:194004003 SNOMEDCT_US_2015_03_01:194006001 SNOMEDCT_US_2015_03_01:20551005 UMLS_CUI:C0155256 Unspecified acute orbit inflammation (disorder) acute inflammation of orbit acute inflammation of orbit (disorder) acute inflammation of orbit NOS (disorder) acute inflammation of orbit, unspecified disease_ontology SNOMEDCT_2005_07_31:20551005 acute inflammation of orbit (disorder) SNOMEDCT_2005_07_31:194004003 Unspecified acute orbit inflammation (disorder) ICD9CM_2006:376.0 acute inflammation of orbit ICD9CM_2006:376.00 acute inflammation of orbit, unspecified SNOMEDCT_2005_07_31:194006001 acute inflammation of orbit NOS (disorder) orbital periostitis DOID:11231 ICD10CM:H05.03 ICD9CM:376.02 SNOMEDCT_US_2015_03_01:65974003 UMLS_CUI:C0155257 disease_ontology orbital periostitis (disorder) SNOMEDCT_2005_07_31:65974003 orbital periostitis (disorder) orbital osteomyelitis DOID:11232 ICD10CM:H05.02 ICD9CM:376.03 SNOMEDCT_US_2015_03_01:65875003 UMLS_CUI:C0155258 disease_ontology orbital osteomyelitis (disorder) SNOMEDCT_2005_07_31:65875003 orbital osteomyelitis (disorder) orbital tenonitis DOID:11233 ICD9CM:376.04 SNOMEDCT_US_2015_03_01:8976003 Tenonitis (disorder) UMLS_CUI:C0155259 disease_ontology SNOMEDCT_2005_07_31:8976003 Tenonitis (disorder) orbital cellulitis DOID:11234 ICD10CM:H05.01 ICD9CM:376.01 MSH:D054517 NCI:C99000 SNOMEDCT_US_2015_03_01:194005002 UMLS_CUI:C0149507 disease_ontology orbital cellulitis (disorder) SNOMEDCT_2005_07_31:194005002 orbital cellulitis (disorder) chronic adhesive otitis media DOID:11235 ICD10CM:H74.1 ICD9CM:385.1 ICD9CM:385.10 SNOMEDCT_US_2015_03_01:194330006 SNOMEDCT_US_2015_03_01:194331005 SNOMEDCT_US_2015_03_01:7699004 UMLS_CUI:C0155478 disease_ontology appendix cancer A intestinal cancer that is located_in the appendix. DOID:11239 ICD10CM:C18.1 ICD9CM:153.5 MSH:D001063 NCI:C9333 SNOMEDCT_US_2015_03_01:363411007 SNOMEDCT_US_2015_03_01:93679002 UMLS_CUI:C0496779 cancer of the appendix disease_ontology malignant neoplasm of appendix vermiformis malignant tumor of appendix (disorder) malignant tumor of the appendix NCI2004_11_17:C9333 malignant tumor of the appendix A intestinal cancer that is located_in the appendix. url:http://en.wikipedia.org/wiki/Vermiform_appendix ICD9CM_2006:153.5 malignant neoplasm of appendix vermiformis SNOMEDCT_2005_07_31:363411007 malignant tumor of appendix (disorder) NCI2004_11_17:C9330 cancer of the appendix appendiceal neoplasm DOID:11240 MSH:D001063 NCI:C4434 SNOMEDCT_US_2015_03_01:126846004 UMLS_CUI:C0003614 appendix neoplasm disease_ontology neoplasm of appendix (disorder) NCI2004_11_17:C4434 appendix neoplasm SNOMEDCT_2005_07_31:126846004 neoplasm of appendix (disorder) appendix lymphoma Appendiceal Lymphoma DOID:11241 NCI:C5513 UMLS_CUI:C1332328 disease_ontology Appendiceal Lymphoma NCI2004_11_17:C5513 plethora of newborn DOID:11242 ICD10CM:P61.1 ICD9CM:776.4 NCI:C27069 Neonatal polycythemia (disorder) SNOMEDCT_US_2015_03_01:206518001 SNOMEDCT_US_2015_03_01:32984002 SNOMEDCT_US_2015_03_01:9170001 UMLS_CUI:C0272153 disease_ontology Neonatal polycythemia (disorder) SNOMEDCT_2005_07_31:32984002 anemia of prematurity Anemia of prematurity (disorder) DOID:11243 ICD10CM:P61.2 ICD9CM:776.6 NCI:C97167 SNOMEDCT_US_2015_03_01:47100003 UMLS_CUI:C0158996 disease_ontology Anemia of prematurity (disorder) SNOMEDCT_2005_07_31:47100003 neonatal anemia ANEMIA NEONATAL DOID:11244 MSH:D000751 Neonatal anemia (disorder) Neonatal anemia, NOS SNOMEDCT_US_2015_03_01:111468003 SNOMEDCT_US_2015_03_01:234350007 SNOMEDCT_US_2015_03_01:276577009 SNOMEDCT_US_2015_03_01:33130007 UMLS_CUI:C0002891 disease_ontology Neonatal anemia (disorder) SNOMEDCT_2005_07_31:234350007 ANEMIA NEONATAL MTH:NOCODE Neonatal anemia, NOS SNOMEDCT_2005_07_31:33130007 Neonatal anemia, NOS SNOMEDCT_2005_07_31:276577009 Neonatal anemia, NOS SNOMEDCT_2005_07_31:111468003 transient neonatal neutropenia DOID:11245 ICD10CM:P61.5 ICD9CM:776.7 SNOMEDCT_US_2015_03_01:206520003 SNOMEDCT_US_2015_03_01:55444004 Transient neonatal neutropenia (disorder) Transient neonatal neutropenia NOS (disorder) UMLS_CUI:C0158997 disease_ontology SNOMEDCT_2005_07_31:55444004 Transient neonatal neutropenia (disorder) SNOMEDCT_2005_07_31:206520003 Transient neonatal neutropenia NOS (disorder) DIC in newborn DOID:11246 Disseminated intravascular coagulation in newborn Disseminated intravascular coagulation in newborn (disorder) ICD10CM:P60 ICD9CM:776.2 NCI:C111856 SNOMEDCT_US_2015_03_01:34417008 UMLS_CUI:C0158992 disease_ontology Disseminated intravascular coagulation in newborn (disorder) SNOMEDCT_2005_07_31:34417008 Disseminated intravascular coagulation in newborn ICD9CM_2006:776.2 disseminated intravascular coagulation DIC DOID:11247 Defibrination syndrome Diffuse or disseminated intravascular coagulation ICD10CM:D65 ICD9CM:286.6 MSH:D004211 NCI:C2992 SNOMEDCT_US_2015_03_01:267563002 SNOMEDCT_US_2015_03_01:67406007 UMLS_CUI:C0012739 disease_ontology Defibrination syndrome ICD9CM_2006:286.6 DIC NCI2004_11_17:C2992 Diffuse or disseminated intravascular coagulation MTHICD9_2006:286.6 hemorrhagic disease of newborn DOID:11248 Hemorrhagic diathesis of newborn Hemorrhagic disease of newborn Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) disease_ontology hemorrhagic disease of newborn true CSP2005:0427-5157 hemorrhagic disease of newborn Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) SNOMEDCT_2005_07_31:12546009 Hemorrhagic disease of newborn ICD9CM_2006:776.0 Hemorrhagic diathesis of newborn MTHICD9_2006:776.0 vitamin K deficiency hemorrhagic disease DOID:11249 ICD10CM:E56.1 ICD9CM:269.0 MSH:D014813 SNOMEDCT_US_2015_03_01:124892003 SNOMEDCT_US_2015_03_01:52675005 UMLS_CUI:C0042880 deficiency of vitamin K deficiency of vitamin K (disorder) disease_ontology vitamin K deficiency vitamin K deficiency (disorder) SNOMEDCT_2005_07_31:124892003 deficiency of vitamin K (disorder) SNOMEDCT_2005_07_31:52675005 vitamin K deficiency (disorder) ICD9CM_2006:269.0 deficiency of vitamin K CSP2005:2116-7764 vitamin K deficiency microcytic anemia DOID:11252 MSH:C562385 NCI:C35141 OMIM mapping confirmed by DO. [SN]. OMIM:206200 SNOMEDCT_US_2015_03_01:154787005 SNOMEDCT_US_2015_03_01:234349007 SNOMEDCT_US_2015_03_01:267553005 UMLS_CUI:C0085576 disease_ontology Brill-Zinsser disease An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. Brill Zinsser disease Brill's disease Brill-Zinsser disease (disorder) DOID:11254 ICD10CM:A75.1 ICD9CM:081.1 Latent typhus MSH:D014438 Recrudescent typhus SNOMEDCT_US_2015_03_01:47761007 Sporadic typhus UMLS_CUI:C0006181 disease_ontology An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. url:http://en.wikipedia.org/wiki/Epidemic_typhus Brill-Zinsser disease (disorder) SNOMEDCT_2005_07_31:47761007 MTHICD9_2006:081.1 Recrudescent typhus Brill's disease ICD9CM_2006:081.1 Brill Zinsser disease CSP2005:2623-8052 typhus A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. Classical typhus (fever) DOID:11255 DOID:11256 DOID:12353 Endemic Typhus fever Epidemic (louse-borne) typhus Epidemic louse-borne typhus fever due to Rickettsia prowazekii European typhus Exanthematic Typhus fever NOS Exanthematous typhus Famine fever Flea typhus (disorder) Flea-borne rickettsiosis Flea-borne typhus Hospital fever ICD10CM:A75 ICD10CM:A75.0 ICD10CM:A75.2 ICD10CM:A75.9 ICD9CM:080 ICD9CM:081.0 ICD9CM:081.9 Jail fever Louse-borne [epidemic] typhus Louse-borne rickettsiosis Louse-borne typhus MSH:D014437 MSH:D014438 Mexican typhus Moscow typhus Murine [endemic] typhus Murine typhus NCI:C84688 NCI:C84689 Petechial fever Prison fever Rat flea typhus SNOMEDCT_US_2015_03_01:154375001 SNOMEDCT_US_2015_03_01:187383009 SNOMEDCT_US_2015_03_01:25668000 SNOMEDCT_US_2015_03_01:266205000 SNOMEDCT_US_2015_03_01:39111003 SNOMEDCT_US_2015_03_01:414263007 SNOMEDCT_US_2015_03_01:83838002 Ship fever Shop typhus Typhus exanthematique Typhus fever (disorder) UMLS_CUI:C0041471 UMLS_CUI:C0041472 UMLS_CUI:C0041473 Urban typhus disease_ontology endemic flea-borne typhus epidemic louse-borne typhus A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. url:http://emedicine.medscape.com/article/231374-overview#a0104 SNOMEDCT_2005_07_31:187383009 Typhus fever (disorder) Flea typhus (disorder) SNOMEDCT_2005_07_31:414263007 Endemic Typhus fever MTHICD9_2006:081.0 ICD9CM_2006:081.0 Murine [endemic] typhus Exanthematic Typhus fever NOS MTHICD9_2006:080 ICD9CM_2006:080 Louse-borne [epidemic] typhus social phobia A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. DOID:11257 ICD10CM:F40.1 ICD10CM:F40.10 ICD9CM:300.23 MSH:D010698 NCI:C34927 SNOMEDCT_US_2015_03_01:191720001 SNOMEDCT_US_2015_03_01:192395002 SNOMEDCT_US_2015_03_01:25501002 UMLS_CUI:C0031572 disease_ontology A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. url:http://en.wikipedia.org/wiki/Social_phobia cat-scratch disease A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. DOID:11258 Debre's Syndrome Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever ICD10CM:A28.1 ICD9CM:078.3 MSH:D002372 NCI:C84620 SNOMEDCT_US_2015_03_01:123319006 SNOMEDCT_US_2015_03_01:154370006 SNOMEDCT_US_2015_03_01:266202002 SNOMEDCT_US_2015_03_01:79974007 UMLS_CUI:C0007361 benign lymphoreticulosis cat scratch fever disease_ontology A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. url:http://en.wikipedia.org/wiki/Cat_scratch_disease url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# MTHICD9_2006:078.3 benign lymphoreticulosis Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. Cytomagalovirus infection Cytomegaloviral disease Cytomegaloviral disease, unspecified Cytomegaloviral disease, unspecified (disorder) Cytomegalovirus infection (disorder) DOID:11259 Salivary gland virus disease cytomegalovirus infection disease_ontology true Cytomegalovirus infection (disorder) SNOMEDCT_2005_07_31:28944009 Cytomegaloviral disease, unspecified (disorder) SNOMEDCT_2005_07_31:187456009 Cytomegaloviral disease ICD9CM_2006:078.5 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. url:http://en.wikipedia.org/wiki/Cytomegalovirus Cytomegaloviral disease, unspecified SNOMEDCT_2005_07_31:186699001 SNOMEDCT_2005_07_31:186695007 Salivary gland virus disease Cytomagalovirus infection SNOMEDCT_2005_07_31:266203007 CSP2005:3099-9294 cytomegalovirus infection MTHICD9_2006:078.5 Salivary gland virus disease rabies A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. DOID:11260 ICD10CM:A82 ICD10CM:A82.9 ICD9CM:071 Lyssa MSH:D011818 NCI:C28182 SNOMEDCT_US_2015_03_01:14168008 SNOMEDCT_US_2015_03_01:186644005 SNOMEDCT_US_2015_03_01:187393002 SNOMEDCT_US_2015_03_01:275370001 UMLS_CUI:C0034494 disease_ontology A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. url:http://en.wikipedia.org/wiki/Rabies url:http://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx Lyssa MTHICD9_2006:071 foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. DOID:11261 Epizootic stomatitis disease_ontology true A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. url:http://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf Epizootic stomatitis MTHICD9_2006:078.4 ornithosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. DOID:11262 ICD10CM:A70 ICD9CM:073 ICD9CM:073.9 MSH:D009956 NCI:C34873 SNOMEDCT_US_2015_03_01:154367007 SNOMEDCT_US_2015_03_01:154369005 SNOMEDCT_US_2015_03_01:186653003 SNOMEDCT_US_2015_03_01:186657002 SNOMEDCT_US_2015_03_01:266200005 SNOMEDCT_US_2015_03_01:75116005 UMLS_CUI:C0029291 disease_ontology psittacosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. url:http://en.wikipedia.org/wiki/Psittacosis url:http://www.nyc.gov/html/doh/html/cd/cdpsit.shtml Chlamydia trachomatis infectious disease A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis. Chlamydial Infection DOID:11263 chlamydial disease disease_ontology true CSP2005:0638-2797 chlamydial disease A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis. url:http://en.wikipedia.org/wiki/Chlamydia_infection Chlamydial Infection NCI2004_11_17:C34463 Chlamydophila infectious disease DOID:11264 disease_ontology true trachoma A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. DOID:11265 DOID:13013 DOID:13264 ICD10CM:A71 ICD10CM:A71.0 ICD10CM:A71.1 ICD10CM:A71.9 ICD9CM:076 ICD9CM:076.0 ICD9CM:076.1 ICD9CM:076.9 MSH:D014141 SNOMEDCT_US_2015_03_01:154367007 SNOMEDCT_US_2015_03_01:186671005 SNOMEDCT_US_2015_03_01:186672003 SNOMEDCT_US_2015_03_01:187379009 SNOMEDCT_US_2015_03_01:2576002 SNOMEDCT_US_2015_03_01:266200005 SNOMEDCT_US_2015_03_01:29976007 SNOMEDCT_US_2015_03_01:52812002 UMLS_CUI:C0040592 UMLS_CUI:C0153107 UMLS_CUI:C0153108 active stage trachoma disease_ontology trachoma dubium A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. url:http://en.wikipedia.org/wiki/Trachoma url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm url:http://www.who.int/blindness/causes/priority/en/index2.html hemorrhagic fever with renal syndrome A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. DOID:11266 HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis ICD10CM:A98.5 ICD9CM:078.6 MSH:D006480 NCI:C84753 Puumala virus nephropathy (disorder) SNOMEDCT_US_2015_03_01:102455002 SNOMEDCT_US_2015_03_01:186701001 SNOMEDCT_US_2015_03_01:364756009 SNOMEDCT_US_2015_03_01:70826003 UMLS_CUI:C0019101 disease_ontology Hemorrhagic nephrosonephritis ICD9CM_2006:078.6 Hemorrhagic fever, Russian MTHICD9_2006:078.6 A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. url:http://emedicine.medscape.com/article/982142-overview url:http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm Puumala virus nephropathy (disorder) SNOMEDCT_2005_07_31:364756009 keratomalacia DOID:11267 ICD10CM:H18.44 ICD9CM:371.45 MSH:C536156 SNOMEDCT_US_2015_03_01:193827004 SNOMEDCT_US_2015_03_01:85149007 UMLS_CUI:C0152455 disease_ontology vitamin A deficiency with keratomalacia DOID:11268 disease_ontology true vitamin A deficiency with keratomalacia (disorder) SNOMEDCT_2005_07_31:42639000 vitamin A deficiency with keratomalacia (disorder) chronic apical periodontitis DOID:11269 ICD10CM:K04.5 ICD9CM:522.6 SNOMEDCT_US_2015_03_01:196343008 SNOMEDCT_US_2015_03_01:196345001 SNOMEDCT_US_2015_03_01:87782002 UMLS_CUI:C0392492 chronic apical periodontitis (disorder) chronic apical periodontitis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:87782002 chronic apical periodontitis (disorder) SNOMEDCT_2005_07_31:196345001 chronic apical periodontitis NOS (disorder) hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium DOID:11270 DOID:11271 DOID:14011 DOID:14012 disease_ontology hypertension secondary to renal disease, antepartum hypertension secondary to renal disease, postpartum hypertension secondary to renal disease, with delivery true muscle syphilis DOID:11275 Syphilis of muscle (disorder) disease_ontology true SNOMEDCT_2005_07_31:88943008 Syphilis of muscle (disorder) Plummer's disease DOID:11277 ICD10CM:E05.2 ICD9CM:242.3 NCI:C35171 Plummer disease SNOMEDCT_US_2015_03_01:190250001 SNOMEDCT_US_2015_03_01:190254005 SNOMEDCT_US_2015_03_01:57777000 Toxic nodular Goiter Toxic nodular goiter (disorder) Toxic nodular goiter NOS (disorder) Toxic nodular goiter unspecified (disorder) UMLS_CUI:C0342127 disease_ontology SNOMEDCT_2005_07_31:57777000 Toxic nodular goiter (disorder) SNOMEDCT_2005_07_31:190254005 Toxic nodular goiter NOS (disorder) SNOMEDCT_2005_07_31:190250001 Toxic nodular goiter unspecified (disorder) NCI2004_11_17:C35171 Toxic nodular Goiter solar retinopathy DOID:11282 ICD10CM:H31.02 ICD9CM:363.31 SNOMEDCT_US_2015_03_01:1135000 Solar retinitis UMLS_CUI:C0152131 disease_ontology SNOMEDCT_2005_07_31:1135000 Solar retinitis peripheral scars of retina DOID:11283 ICD9CM:363.34 UMLS_CUI:C0154888 disease_ontology disseminated scars of retina DOID:11284 disease_ontology true tick paralysis A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. DOID:11285 MSH:D013985 SNOMEDCT_US_2015_03_01:74225001 Tick paralysis Tick paralysis (disorder) UMLS_CUI:C0040197 disease_ontology SNOMEDCT_2005_07_31:74225001 Tick paralysis (disorder) A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm url:http://www.journals.uchicago.edu/doi/pdf/10.1086/313502 url:http://www.ncbi.nlm.nih.gov/pubmed/10428629 MTHICD9_2006:989.5 Tick paralysis neuromuscular junction toxic disorder DOID:11286 Toxic myoneural disorder Toxic myoneural junction disorder disease_ontology true ICD9CM_2006:358.2 Toxic myoneural disorder SNOMEDCT_2005_07_31:17940001 Toxic myoneural junction disorder conditions involving the integument and temperature regulation of fetus and newborn DOID:11287 disease_ontology true ventilation pneumonitis Air-conditioner and humidifier lung (disorder) An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. DOID:11289 Humidifier lung (disorder) ICD10CM:J67.7 ICD9CM:495.7 SNOMEDCT_US_2015_03_01:195990006 SNOMEDCT_US_2015_03_01:48347002 UMLS_CUI:C0155891 disease_ontology Air-conditioner and humidifier lung (disorder) SNOMEDCT_2005_07_31:195990006 Humidifier lung (disorder) SNOMEDCT_2005_07_31:48347002 An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf pituitary apoplexy DOID:1129 MSH:D010899 NCI:C26853 Pituitary apoplexy (disorder) SNOMEDCT_US_2015_03_01:237701005 UMLS_CUI:C0032001 disease_ontology Pituitary apoplexy (disorder) SNOMEDCT_2005_07_31:237701005 arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. Arteriovenous hemangioma (disorder) CSP:0571-2717 Cirsoid aneurysm DOID:11294 HP:0100026 ICD10CM:I77.0 NCI:C4297 Racemose Angioma Racemose aneurysm (morphologic abnormality) Racemose hemangioma (morphologic abnormality) SNOMEDCT_US_2015_03_01:11071001 SNOMEDCT_US_2015_03_01:14156004 SNOMEDCT_US_2015_03_01:204480002 SNOMEDCT_US_2015_03_01:233982006 SNOMEDCT_US_2015_03_01:403966009 UMLS_CUI:C0334533 disease_ontology NCI2004_11_17:C4297 Racemose Angioma Racemose hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:11071001 Arteriovenous hemangioma (disorder) SNOMEDCT_2005_07_31:403966009 An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. HP:0100026 url:http://en.wikipedia.org/wiki/Arteriovenous_malformation Cirsoid aneurysm SNOMEDCT_2005_07_31:204480002 Racemose aneurysm (morphologic abnormality) SNOMEDCT_2005_07_31:14156004 retinal microaneurysm DOID:11295 ICD9CM:362.14 Retinal microaneurysm (disorder) Retinal microaneurysms NOS Retinal microaneurysms NOS (disorder) SNOMEDCT_US_2015_03_01:193363005 SNOMEDCT_US_2015_03_01:34037000 UMLS_CUI:C0154834 disease_ontology Retinal microaneurysm (disorder) SNOMEDCT_2005_07_31:34037000 Retinal microaneurysms NOS (disorder) SNOMEDCT_2005_07_31:193363005 ICD9CM_2006:362.14 Retinal microaneurysms NOS vertebral artery occlusion DOID:11299 ICD10CM:I65.0 ICD9CM:433.2 Occlusion and stenosis of vertebral artery UMLS_CUI:C0155724 disease_ontology pneumopericardium DOID:113 disease_ontology true pituitary infarct DOID:1130 NCI:C27117 Pituitary infarction Pituitary infarction (disorder) SNOMEDCT_US_2015_03_01:95830009 UMLS_CUI:C0342405 disease_ontology Pituitary infarction (disorder) SNOMEDCT_2005_07_31:95830009 NCI2004_11_17:C27117 Pituitary infarction cercarial dermatitis A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. Cutaneous schistosomiasis DOID:11302 ICD10CM:B65.3 ICD9CM:120.3 NCI:C34457 SNOMEDCT_US_2015_03_01:187115002 SNOMEDCT_US_2015_03_01:238534006 SNOMEDCT_US_2015_03_01:86711009 Sea bather's eruption (disorder) UMLS_CUI:C0546996 disease_ontology Cutaneous schistosomiasis ICD9CM_2006:120.3 SNOMEDCT_2005_07_31:238534006 Sea bather's eruption (disorder) A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. url:http://www.cdc.gov/parasites/swimmersitch/ url:http://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm subchronic state latent schizophrenia with acute exacerbation DOID:11307 disease_ontology true latent schizophrenia in remission DOID:11308 Latent schizophrenia in remission (disorder) Latent schizophrenia, in remission disease_ontology true ICD9CM_2006:295.55 Latent schizophrenia, in remission Latent schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:191565008 chronic latent schizophrenia DOID:11309 Latent chronic Schizophrenia Latent schizophrenia, chronic state chronic latent schizophrenia (disorder) disease_ontology true ICD9CM_2006:295.52 Latent schizophrenia, chronic state Latent chronic Schizophrenia NCI2004_11_17:C35182 SNOMEDCT_2005_07_31:191562006 chronic latent schizophrenia (disorder) Mobitz type II atrioventricular block DOID:11312 ICD9CM:426.12 Mobitz (type) II atrioventricular block Mobitz II atrioventricular block Mobitz type II atrioventricular block (disorder) NCI:C62018 SNOMEDCT_US_2015_03_01:28189009 UMLS_CUI:C0155700 disease_ontology ICD9CM_2006:426.12 Mobitz (type) II atrioventricular block Mobitz type II atrioventricular block (disorder) SNOMEDCT_2005_07_31:28189009 MTHICD9_2006:426.12 Mobitz II atrioventricular block Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. DOID:11314 Histoplasma duboisii with retinitis (disorder) disease_ontology true Histoplasma duboisii with retinitis (disorder) SNOMEDCT_2005_07_31:187049007 An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. url:http://www.ncbi.nlm.nih.gov/pubmed/1945308 African histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. DOID:11315 ICD9CM:115.10 UMLS_CUI:C0153270 disease_ontology A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. url:http://www.cdc.gov/eid/content/13/11/1647.htm histoplasmosis retinitis DOID:11316 Histoplasmosis with retinitis (disorder) ICD9CM:115.92 SNOMEDCT_US_2015_03_01:187058000 UMLS_CUI:C0153278 disease_ontology Histoplasmosis with retinitis (disorder) SNOMEDCT_2005_07_31:187058000 Kyasanur forest disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. DOID:11320 ICD10CM:A98.2 ICD9CM:065.2 MSH:D007733 SNOMEDCT_US_2015_03_01:23097003 UMLS_CUI:C0022810 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm acute schizophrenic episode subchronic state with acute exacerbation DOID:11327 disease_ontology true schizophreniform disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. DOID:11328 ICD10CM:F20.81 ICD9CM:295.4 MSH:D011618 NCI:C94376 SNOMEDCT_US_2015_03_01:88975006 UMLS_CUI:C0036358 disease_ontology A psychotic disorder that involves schizophrenia symptoms over time period of one month. url:http://en.wikipedia.org/wiki/Schizophreniform_disorder ainhum A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. Ainhum (disorder) DOID:11329 Dactylolysis spontanea ICD10CM:L94.6 ICD9CM:136.0 MSH:D000387 NCI:C84544 OMIM mapping confirmed by DO. [SN]. OMIM:103400 SNOMEDCT_US_2015_03_01:38528001 SNOMEDCT_US_2015_03_01:51404004 UMLS_CUI:C0001860 disease_ontology Dactylolysis spontanea MTHICD9_2006:136.0 Ainhum (disorder) SNOMEDCT_2005_07_31:38528001 A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. url:http://en.wikipedia.org/wiki/Ainhum url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum erysipelas DOID:11330 Erysipelas (disorder) ICD10CM:A46 ICD9CM:035 MSH:D004886 SNOMEDCT_US_2015_03_01:154305002 SNOMEDCT_US_2015_03_01:266005008 SNOMEDCT_US_2015_03_01:44653001 UMLS_CUI:C0014733 disease_ontology Erysipelas (disorder) SNOMEDCT_2005_07_31:44653001 Erysipelas (disorder) SNOMEDCT_2005_07_31:266005008 sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. Boeck sarcoid DOID:11335 ICD10CM:D80-D89 ICD10CM:D86 ICD10CM:D86.9 ICD9CM:135 MSH:D012507 NCI:C34995 OMIM:181000 OMIM:609464 OMIM:612387 OMIM:612388 ORDO:797 SNOMEDCT_US_2015_03_01:154425004 SNOMEDCT_US_2015_03_01:31541009 UMLS_CUI:C0036202 Xref MGI. disease_ontology lymphogranulomatosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. url:http://en.wikipedia.org/wiki/Sarcoidosis url:http://ghr.nlm.nih.gov/glossary=sarcoidosis url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 CSP2005:2024-3715 lymphogranulomatosis rhinoscleroma A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. DOID:11336 ICD9CM:040.1 MSH:D012226 Rhinoscleroma (disorder) SNOMEDCT_US_2015_03_01:72409005 UMLS_CUI:C0035468 disease_ontology A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. url:http://en.wikipedia.org/wiki/Rhinoscleroma url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma Rhinoscleroma (disorder) SNOMEDCT_2005_07_31:72409005 Lemierre's syndrome A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. DOID:11337 ICD9CM:040.3 Lemierre syndrome MSH:D005674 SNOMEDCT_US_2015_03_01:52542005 UMLS_CUI:C0027537 acute sore throat disease_ontology human necrobacillosis postanginal sepsis A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. url:http://en.wikipedia.org/wiki/Fusobacterium_necrophorum url:http://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis tetanus A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. DOID:11338 ICD10CM:A35 ICD9CM:037 Infection due to Clostridium tetani (disorder) MSH:D013742 NCI:C85185 SNOMEDCT_US_2015_03_01:154312006 SNOMEDCT_US_2015_03_01:276202003 SNOMEDCT_US_2015_03_01:76902006 Tetanus (disorder) UMLS_CUI:C0039614 clostridial tetanus disease_ontology A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. url:http://emedicine.medscape.com/article/786414-overview#a0104 url:http://en.wikipedia.org/wiki/Tetanus SNOMEDCT_2005_07_31:76902006 Tetanus (disorder) CSP2005:0368-2622 clostridial tetanus Infection due to Clostridium tetani (disorder) SNOMEDCT_2005_07_31:276202003 pneumocystosis An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. DOID:11339 ICD10CM:B59 ICD9CM:136.3 MSH:D011020 NCI:C3334 Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis Pneumocystosis pneumonia SNOMEDCT_US_2015_03_01:155557008 SNOMEDCT_US_2015_03_01:415125002 SNOMEDCT_US_2015_03_01:57541005 SNOMEDCT_US_2015_03_01:88860002 UMLS_CUI:C1535939 disease_ontology pulmonary pneumocystosis (disorder) SNOMEDCT_2005_07_31:57541005 pulmonary pneumocystosis (disorder) An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia CSP2005:2596-6076 Pneumocystis pneumonia Pneumocystosis pneumonia SNOMEDCT_2005_07_31:415125002 ICD9CM_2006:136.3 Pneumocystosis Pneumocystis carinii pneumonia SNOMEDCT_2005_07_31:155557008 gingival recession DOID:1133 DOID:1134 DOID:13280 DOID:13901 DOID:2405 Gingival recession Gingival recession (disorder) Gingival recession NOS (disorder) Gingival recession, localized Gingival recession, unspecified ICD10CM:K06.0 ICD9CM:523.2 ICD9CM:523.20 ICD9CM:523.21 ICD9CM:523.22 ICD9CM:523.23 ICD9CM:523.24 MSH:D005889 NCI:C82068 SNOMEDCT_US_2015_03_01:155645006 SNOMEDCT_US_2015_03_01:196360003 SNOMEDCT_US_2015_03_01:4356008 SNOMEDCT_US_2015_03_01:59898000 UMLS_CUI:C0017572 UMLS_CUI:C0266916 UMLS_CUI:C1456171 UMLS_CUI:C1456172 UMLS_CUI:C1456173 disease_ontology localized gingival recession localized gingival recession (disorder) minimal gingival recession moderate gingival recession severe gingival recession Gingival recession SNOMEDCT_2005_07_31:155645006 Gingival recession NOS (disorder) SNOMEDCT_2005_07_31:196360003 Gingival recession ICD9CM_2006:523.2 SNOMEDCT_2005_07_31:59898000 localized gingival recession (disorder) Gingival recession, unspecified ICD9CM_2006:523.20 Gingival recession (disorder) SNOMEDCT_2005_07_31:4356008 Gingival recession, localized ICD9CM_2006:523.24 Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. DOID:11340 Infection by Pneumocystis carinii (disorder) disease_ontology true Infection by Pneumocystis carinii (disorder) SNOMEDCT_2005_07_31:111918002 An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. url:http://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. DOID:11341 disease_ontology true A lung disease that is a mycosis caused by fungal growth in the lungs. url:http://en.wikipedia.org/wiki/Fungal_infection arcus senilis Arcus of cornea (disorder) DOID:11342 ICD10CM:H18.41 MSH:D001112 OMIM mapping confirmed by DO. [SN]. OMIM:107800 SNOMEDCT_US_2015_03_01:111522004 SNOMEDCT_US_2015_03_01:155159000 SNOMEDCT_US_2015_03_01:231924000 UMLS_CUI:C0003742 corneal arcus disease_ontology Arcus of cornea (disorder) SNOMEDCT_2005_07_31:231924000 scleral disease DOID:11343 ICD10CM:H15 ICD10CM:H15.9 MSH:D015422 NCI:C79717 SNOMEDCT_US_2015_03_01:33064008 UMLS_CUI:C0036412 disease_ontology disorder of sclera (disorder) SNOMEDCT_2005_07_31:33064008 disorder of sclera (disorder) congenital osteodystrophy DOID:11346 disease_ontology true Meniere's disease in remission DOID:11347 Inactive Meniere's disease Mnire's disease in remission disease_ontology true Mnire's disease in remission SNOMEDCT_2005_07_31:194351009 ICD9CM_2006:386.04 Inactive Meniere's disease epilepsia partialis continua DOID:11349 disease_ontology true grand mal status epilepticus DOID:11350 Grand mal status Grand mal status (disorder) Grand mal status, epileptic disease_ontology true Grand mal status, epileptic ICD9CM_2006:345.3 Grand mal status SNOMEDCT_2005_07_31:192998006 Grand mal status (disorder) SNOMEDCT_2005_07_31:13973009 epilepsia partialis continua with intractable epilepsy DOID:11352 disease_ontology true bladder diverticulum DOID:11353 Diverticulum - bladder Diverticulum of bladder Diverticulum of bladder (disorder) Diverticulum of bladder (disorder) [Ambiguous] Diverticulum of bladder NOS (disorder) ICD10CM:N32.3 ICD9CM:596.3 MSH:C562406 OMIM mapping confirmed by DO. [SN]. OMIM:109820 SNOMEDCT_US_2015_03_01:155888001 SNOMEDCT_US_2015_03_01:156977001 SNOMEDCT_US_2015_03_01:197866008 SNOMEDCT_US_2015_03_01:197869001 SNOMEDCT_US_2015_03_01:21853005 SNOMEDCT_US_2015_03_01:252004007 SNOMEDCT_US_2015_03_01:268335001 UMLS_CUI:C0156273 disease_ontology Diverticulum of bladder (disorder) [Ambiguous] SNOMEDCT_2005_07_31:21853005 Diverticulum of bladder NOS (disorder) SNOMEDCT_2005_07_31:197869001 Diverticulum of bladder SNOMEDCT_2005_07_31:252004007 Diverticulum - bladder SNOMEDCT_2005_07_31:156977001 Diverticulum of bladder SNOMEDCT_2005_07_31:155888001 Diverticulum - bladder SNOMEDCT_2005_07_31:268335001 Diverticulum of bladder ICD9CM_2006:596.3 Diverticulum of bladder (disorder) SNOMEDCT_2005_07_31:197866008 stone in bladder diverticulum DOID:11354 ICD10CM:N21.0 ICD9CM:594.0 SNOMEDCT_US_2015_03_01:18109005 UMLS_CUI:C0156265 calculus in diverticulum of bladder calculus in diverticulum of bladder (disorder) disease_ontology ICD9CM_2006:594.0 calculus in diverticulum of bladder SNOMEDCT_2005_07_31:18109005 calculus in diverticulum of bladder (disorder) bladder calculus DOID:11355 ICD10CM:N21.0 MSH:D001744 NCI:C26707 SNOMEDCT_US_2015_03_01:155879005 SNOMEDCT_US_2015_03_01:197830007 SNOMEDCT_US_2015_03_01:70650003 UMLS_CUI:C0005683 disease_ontology Phlebotomus fever A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. DOID:11360 ICD10CM:A93.1 ICD9CM:066.0 MSH:D010217 SNOMEDCT_US_2015_03_01:186605002 SNOMEDCT_US_2015_03_01:186606001 SNOMEDCT_US_2015_03_01:240517002 SNOMEDCT_US_2015_03_01:240518007 SNOMEDCT_US_2015_03_01:33670001 SNOMEDCT_US_2015_03_01:407476002 Sandfly fever Sandfly-borne arboviral fever Sandfly-borne bunyavirus fever (disorder) Sandfly-borne phleboviral disease UMLS_CUI:C0030372 disease_ontology pappataci fever SNOMEDCT_2005_07_31:407476002 Sandfly-borne phleboviral disease SNOMEDCT_2005_07_31:240517002 Sandfly-borne arboviral fever SNOMEDCT_2005_07_31:240518007 Sandfly-borne bunyavirus fever (disorder) A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. url:http://en.wikipedia.org/wiki/Pappataci_fever url:http://www.bjbms.org/archives/2009-1/current%20issue6.pdf SNOMEDCT_2005_07_31:186605002 Sandfly fever tickborne fever DOID:11361 Tick-borne fever (disorder) Tick-borne fever NOS (disorder) disease_ontology pasture fever tick-borne fever true SNOMEDCT_2005_07_31:25495004 Tick-borne fever (disorder) SNOMEDCT_2005_07_31:186608000 Tick-borne fever NOS (disorder) lens subluxation DOID:11364 ICD10CM:H27.11 ICD9CM:379.32 Lens subluxation MSH:D007906 NCI:C34772 SNOMEDCT_US_2015_03_01:155203002 SNOMEDCT_US_2015_03_01:267748002 SNOMEDCT_US_2015_03_01:65814009 Subluxation of lens Subluxation of lens (disorder) UMLS_CUI:C0023316 disease_ontology SNOMEDCT_2005_07_31:65814009 Subluxation of lens (disorder) Lens subluxation SNOMEDCT_2005_07_31:267748002 Lens subluxation SNOMEDCT_2005_07_31:155203002 ICD9CM_2006:379.32 Subluxation of lens congenital aphakia APHAKIA, CONGENITAL PRIMARY Congenital Aphakia Congenital absence of lens Congenital aphakia Congenital aphakia (disorder) DOID:11367 ICD10CM:Q12.3 ICD9CM:743.35 NCI:C35172 OMIM mapping confirmed by DO. [SN]. OMIM:610256 SNOMEDCT_US_2015_03_01:35387008 UMLS_CUI:C0152422 disease_ontology Congenital Aphakia NCI2004_11_17:C35172 Congenital aphakia ICD9CM_2006:743.35 Congenital aphakia (disorder) SNOMEDCT_2005_07_31:35387008 functional diarrhea DOID:11371 Functional diarrhea (disorder) ICD10CM:K59.1 ICD9CM:564.5 SNOMEDCT_US_2015_03_01:47812002 UMLS_CUI:C0156173 disease_ontology Functional diarrhea (disorder) SNOMEDCT_2005_07_31:47812002 megacolon A colonic disease that is characterized by an abnormal dilation of the colon. DOID:11372 DOID:1771 Dilatation of colon ICD10CM:K59.3 MSH:D008531 Megacolon Megacolon NOS (disorder) Megacolon excluding Hirschsprung's disease Megacolon excluding Hirschsprung's disease (disorder) Megacolon, not Hirschsprung's (disorder) Megacolon, other than Hirschsprung's NCI:C34810 SNOMEDCT_US_2015_03_01:197144003 UMLS_CUI:C0025160 disease_ontology Megacolon excluding Hirschsprung's disease SNOMEDCT_2005_07_31:197138002 Dilatation of colon MTHICD9_2006:564.7 SNOMEDCT_2005_07_31:197138002 SNOMEDCT_2005_07_31:33995003 Megacolon excluding Hirschsprung's disease SNOMEDCT_2005_07_31:266528000 ICD9CM_2006:564.7 Megacolon, other than Hirschsprung's Megacolon, not Hirschsprung's (disorder) SNOMEDCT_2005_07_31:33995003 Megacolon NOS (disorder) SNOMEDCT_2005_07_31:197144003 Megacolon excluding Hirschsprung's disease (disorder) SNOMEDCT_2005_07_31:266459000 A colonic disease that is characterized by an abnormal dilation of the colon. url:http://en.wikipedia.org/wiki/Megacolon Megacolon excluding Hirschsprung's disease SNOMEDCT_2005_07_31:155789001 anal spasm DOID:11374 ICD10CM:K59.4 ICD9CM:564.6 SNOMEDCT_US_2015_03_01:17440005 SNOMEDCT_US_2015_03_01:197136003 SNOMEDCT_US_2015_03_01:197137007 UMLS_CUI:C0152167 anal spasm (disorder) anal spasm NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:17440005 anal spasm (disorder) SNOMEDCT_2005_07_31:197137007 anal spasm NOS (disorder) calculus of gallbladder and bile duct with acute cholecystitis DOID:11376 DOID:11377 calculus of gallbladder and bile duct with acute cholecystitis, with obstruction disease_ontology true gnathomiasis A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. DOID:11379 Gnathostomiasis ICD10CM:B83.1 ICD9CM:128.1 Infectious Disease by Gnathostoma (disorder) MSH:D058429 SNOMEDCT_US_2015_03_01:44086001 UMLS_CUI:C0018013 disease_ontology Infectious Disease by Gnathostoma (disorder) SNOMEDCT_2005_07_31:44086001 Gnathostomiasis ICD9CM_2006:128.1 A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm spinal meningioma DOID:1138 MSH:D008579 NCI:C6935 SNOMEDCT_US_2015_03_01:189167009 Spinal Cord meningioma Spinal meningioma (disorder) UMLS_CUI:C0347515 disease_ontology NCI2004_11_17:C6935 Spinal Cord meningioma SNOMEDCT_2005_07_31:189167009 Spinal meningioma (disorder) corneal neovascularization Corneal neovascularization Corneal neovascularization (disorder) Corneal neovascularization NOS (disorder) Corneal neovascularization, unspecified DOID:11382 ICD10CM:H16.4 ICD10CM:H16.40 ICD9CM:370.6 ICD9CM:370.60 MSH:D016510 SNOMEDCT_US_2015_03_01:19161004 SNOMEDCT_US_2015_03_01:193789007 SNOMEDCT_US_2015_03_01:193791004 UMLS_CUI:C0085109 Unspecified corneal neovascularization (disorder) disease_ontology Corneal neovascularization (disorder) SNOMEDCT_2005_07_31:19161004 Corneal neovascularization, unspecified ICD9CM_2006:370.60 SNOMEDCT_2005_07_31:193789007 Unspecified corneal neovascularization (disorder) Corneal neovascularization ICD9CM_2006:370.6 Corneal neovascularization NOS (disorder) SNOMEDCT_2005_07_31:193791004 cryptorchidism Cryptorchism DOID:11383 ICD10CM:Q53.9 ICD9CM:752.51 MSH:D003456 NCI:C12326 OMIM mapping confirmed by DO. [SN]. OMIM:219050 SNOMEDCT_US_2015_03_01:156967003 SNOMEDCT_US_2015_03_01:204878001 SNOMEDCT_US_2015_03_01:204879009 SNOMEDCT_US_2015_03_01:204882004 SNOMEDCT_US_2015_03_01:268226005 SNOMEDCT_US_2015_03_01:367721002 SNOMEDCT_US_2015_03_01:37501009 UMLS_CUI:C0010417 Undescended testicle Undescended testis disease_ontology undescended testicles SNOMEDCT_2005_07_31:156967003 Undescended testicle NCI2004_11_17:C12326 undescended testicles Cryptorchism MTHICD9_2006:752.51 ICD9CM_2006:752.51 Undescended testis expressive language disorder A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. DOID:11385 Developmental expressive language disorder ICD10CM:F80.1 ICD9CM:315.31 NCI:C92562 SNOMEDCT_US_2015_03_01:192565006 SNOMEDCT_US_2015_03_01:229733002 SNOMEDCT_US_2015_03_01:268734000 SNOMEDCT_US_2015_03_01:80360005 UMLS_CUI:C0236826 disease_ontology A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. url:http://en.wikipedia.org/wiki/Expressive_language_disorder Developmental expressive language disorder SNOMEDCT_2005_07_31:268734000 epidural abscess DOID:11387 Epidural abscess Epidural abscess (disorder) Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. MSH:D020802 SNOMEDCT_US_2015_03_01:192752004 SNOMEDCT_US_2015_03_01:310671007 SNOMEDCT_US_2015_03_01:61974008 UMLS_CUI:C0270629 abscess epidural disease_ontology Epidural abscess (disorder) SNOMEDCT_2005_07_31:61974008 Epidural abscess SNOMEDCT_2005_07_31:310671007 SNOMEDCT_2005_07_31:192752004 abscess epidural Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. url:http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm subdural empyema DOID:11389 MSH:D013354 SNOMEDCT_US_2015_03_01:37660004 Subdural abscess (disorder) UMLS_CUI:C0038539 disease_ontology SNOMEDCT_2005_07_31:37660004 Subdural abscess (disorder) cerebral arteritis Cerebral arteritis (disorder) DOID:11390 ICD9CM:437.4 SNOMEDCT_US_2015_03_01:28366008 UMLS_CUI:C0007773 disease_ontology Cerebral arteritis (disorder) SNOMEDCT_2005_07_31:28366008 adult respiratory distress syndrome A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. ARDS DOID:11394 ICD10CM:J80 MSH:D012128 NCI:C27561 NCI:C3353 Non-cardiogenic pulmonary edema (disorder) PRISM. SNOMEDCT_US_2015_03_01:155627006 SNOMEDCT_US_2015_03_01:196150004 SNOMEDCT_US_2015_03_01:196154008 SNOMEDCT_US_2015_03_01:206281003 SNOMEDCT_US_2015_03_01:266411000 SNOMEDCT_US_2015_03_01:67782005 Shock lung UMLS_CUI:C0035222 adult RDS disease_ontology A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome ARDS CSP2005:2596-8861 NCI2004_11_17:C3353 adult RDS Non-cardiogenic pulmonary edema (disorder) SNOMEDCT_2005_07_31:95437004 MTHICD9_2006:518.5 Shock lung pulmonary edema DOID:11396 DOID:13472 ICD10CM:J81 ICD10CM:J81.1 MSH:D011654 NCI:C26868 SNOMEDCT_US_2015_03_01:19242006 SNOMEDCT_US_2015_03_01:196119001 SNOMEDCT_US_2015_03_01:266408001 UMLS_CUI:C0034063 disease_ontology heart disease A cardiovascular system disease that involves the heart. DOID:114 ICD10CM:I51.9 ICD9CM:429.9 MSH:D006331 NCI:C3079 SNOMEDCT_US_2015_03_01:155263000 SNOMEDCT_US_2015_03_01:194707003 SNOMEDCT_US_2015_03_01:195152001 SNOMEDCT_US_2015_03_01:266275004 SNOMEDCT_US_2015_03_01:266311004 SNOMEDCT_US_2015_03_01:56265001 UMLS_CUI:C0018799 disease_ontology A cardiovascular system disease that involves the heart. url:http://en.wikipedia.org/wiki/Heart_disease spinal canal and spinal cord meningioma DOID:1140 NCI:C5134 UMLS_CUI:C1334264 disease_ontology pyelonephritis DOID:11400 ICD10CM:N10-N16 ICD10CM:N12 ICD10CM:N16 ICD9CM:590.80 MSH:D011704 NCI:C34965 SNOMEDCT_US_2015_03_01:197779009 SNOMEDCT_US_2015_03_01:197784003 SNOMEDCT_US_2015_03_01:45816000 UMLS_CUI:C0034186 disease_ontology xanthogranulomatous pyelonephritis DOID:11401 MSH:D011705 SNOMEDCT_US_2015_03_01:197777006 SNOMEDCT_US_2015_03_01:38898003 UMLS_CUI:C0034188 Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis (disorder) disease_ontology SNOMEDCT_2005_07_31:197777006 Xanthogranulomatous pyelonephritis SNOMEDCT_2005_07_31:38898003 Xanthogranulomatous pyelonephritis (disorder) depressive state induced by drug DOID:11403 Drug-induced depressive state (disorder) Drug-induced mood disorder disease_ontology true Drug-induced depressive state (disorder) SNOMEDCT_2005_07_31:191495003 Drug-induced mood disorder ICD9CM_2006:292.84 diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. DOID:11404 disease_ontology laryngeal Diphtheria laryngeal diphtheria laryngeal diphtheria (disorder) true NCI2004_11_17:C34546 laryngeal Diphtheria ICD9CM_2006:032.3 laryngeal diphtheria SNOMEDCT_2005_07_31:50215002 laryngeal diphtheria (disorder) A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. url:http://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf diphtheria A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. DOID:11405 DOID:4132 MSH:D003354 SNOMEDCT_US_2015_03_01:397434007 UMLS_CUI:C0010153 corynebacterium infection disease_ontology A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. url:http://en.wikipedia.org/wiki/Diphtheria choroiditis DOID:11406 ICD10CM:H30.9 MSH:D002833 NCI:C35111 SNOMEDCT_US_2015_03_01:16553002 SNOMEDCT_US_2015_03_01:193449000 UMLS_CUI:C0008526 disease_ontology syphilitic disseminated chorioretinitis DOID:11409 Syphilitic disseminated retinochoroiditis (disorder) disease_ontology true SNOMEDCT_2005_07_31:77939001 Syphilitic disseminated retinochoroiditis (disorder) alternating exotropia with V pattern Alternating exotropia with V pattern (disorder) DOID:1141 disease_ontology true Alternating exotropia with V pattern (disorder) SNOMEDCT_2005_07_31:57805002 Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. DOID:11418 Trichomonal urethritis (disorder) disease_ontology trichomonal urethritis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm SNOMEDCT_2005_07_31:30116001 Trichomonal urethritis (disorder) alternating exotropia DOID:1142 ICD10CM:H50.15 ICD9CM:378.15 MSH:D005099 SNOMEDCT_US_2015_03_01:194093000 SNOMEDCT_US_2015_03_01:37214009 UMLS_CUI:C0152207 disease_ontology acquired cavovarus foot deformity Cavovarus deformity of foot, acquired DOID:11421 acquired cavovarus deformity of foot (disorder) disease_ontology true Cavovarus deformity of foot, acquired ICD9CM_2006:736.75 SNOMEDCT_2005_07_31:65362007 acquired cavovarus deformity of foot (disorder) fallopian tube endometriosis DOID:11424 Endometriosis of fallopian tube Endometriosis of fallopian tube (disorder) ICD10CM:N80.2 ICD9CM:617.2 NCI:C26763 SNOMEDCT_US_2015_03_01:22611009 UMLS_CUI:C0014177 disease_ontology Endometriosis of fallopian tube (disorder) SNOMEDCT_2005_07_31:22611009 Endometriosis of fallopian tube ICD9CM_2006:617.2 endosalpingiosis DOID:11427 Endosalpingiosis (disorder) NCI:C40121 SNOMEDCT_US_2015_03_01:55850004 UMLS_CUI:C0269106 disease_ontology Endosalpingiosis (disorder) SNOMEDCT_2005_07_31:55850004 endometriosis of intestine DOID:11428 ICD10CM:N80.5 ICD9CM:617.5 SNOMEDCT_US_2015_03_01:198255005 SNOMEDCT_US_2015_03_01:5562006 UMLS_CUI:C0156347 disease_ontology endometriosis of pelvic peritoneum DOID:11429 Endometriosis of pelvic peritoneum (disorder) Endometriosis of the pelvic peritoneum NOS (disorder) ICD10CM:N80.3 ICD9CM:617.3 SNOMEDCT_US_2015_03_01:198251001 SNOMEDCT_US_2015_03_01:198252008 UMLS_CUI:C0156345 disease_ontology Endometriosis of pelvic peritoneum (disorder) SNOMEDCT_2005_07_31:198251001 Endometriosis of the pelvic peritoneum NOS (disorder) SNOMEDCT_2005_07_31:198252008 exotropia DOID:1143 Divergent Strabismus Divergent concomitant strabismus Divergent concomitant strabismus (disorder) Exotropia (disorder) Exotropia NOS (disorder) Exotropia, unspecified ICD10CM:H50.1 ICD10CM:H50.10 ICD9CM:378.1 ICD9CM:378.10 MSH:D005099 NCI:C34601 SNOMEDCT_US_2015_03_01:155194007 SNOMEDCT_US_2015_03_01:194086004 SNOMEDCT_US_2015_03_01:194098009 SNOMEDCT_US_2015_03_01:399054005 SNOMEDCT_US_2015_03_01:399252000 SNOMEDCT_US_2015_03_01:75400001 UMLS_CUI:C0015310 Unspecified exotropia (disorder) disease_ontology Exotropia NOS (disorder) SNOMEDCT_2005_07_31:194098009 Exotropia (disorder) SNOMEDCT_2005_07_31:75400001 Divergent Strabismus NCI2004_11_17:C34601 Divergent concomitant strabismus (disorder) SNOMEDCT_2005_07_31:399252000 Divergent concomitant strabismus MTHICD9_2006:378.1 SNOMEDCT_2005_07_31:194086004 Unspecified exotropia (disorder) Exotropia (disorder) SNOMEDCT_2005_07_31:399054005 Exotropia, unspecified ICD9CM_2006:378.10 endometriosis in scar of skin DOID:11430 Endometriosis in scar of skin (disorder) ICD10CM:N80.6 ICD9CM:617.6 SNOMEDCT_US_2015_03_01:53913001 UMLS_CUI:C0156348 disease_ontology Endometriosis in scar of skin (disorder) SNOMEDCT_2005_07_31:53913001 endometriosis of rectovaginal septum and vagina DOID:11431 Endometriosis of rectovaginal septum and vagina (disorder) Endometriosis of the rectovaginal septum and vagina NOS (disorder) ICD10CM:N80.4 ICD9CM:617.4 SNOMEDCT_US_2015_03_01:198253003 SNOMEDCT_US_2015_03_01:198254009 UMLS_CUI:C0156346 disease_ontology Endometriosis of the rectovaginal septum and vagina NOS (disorder) SNOMEDCT_2005_07_31:198254009 Endometriosis of rectovaginal septum and vagina (disorder) SNOMEDCT_2005_07_31:198253003 endometriosis of ovary DOID:11426 DOID:11432 ICD10CM:N80.1 ICD9CM:617.1 NCI:C27628 SNOMEDCT_US_2015_03_01:198250000 SNOMEDCT_US_2015_03_01:266589005 SNOMEDCT_US_2015_03_01:31007005 UMLS_CUI:C0156344 disease_ontology ovarian endometriosis recurrent cholesteatoma post-mastoidectomy DOID:11436 disease_ontology recurrent cholesteatoma of postmastoidectomy cavity recurrent cholesteatoma of postmastoidectomy cavity (disorder) true SNOMEDCT_2005_07_31:55417009 recurrent cholesteatoma of postmastoidectomy cavity (disorder) ICD9CM_2006:383.32 recurrent cholesteatoma of postmastoidectomy cavity macrodactylia of toes DOID:11441 Macrodactylia of toes (disorder) disease_ontology true Macrodactylia of toes (disorder) SNOMEDCT_2005_07_31:4136000 malignant mast cell tumors involving lymph node of head DOID:11442 Mast cell malignancy of lymph nodes of head, face and neck (disorder) disease_ontology malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder) malignant mast cell tumors involving lymph nodes of head, face, and neck true ICD9CM_2006:202.61 malignant mast cell tumors involving lymph nodes of head, face, and neck SNOMEDCT_2005_07_31:93204001 malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder) Mast cell malignancy of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188662007 sciatic neuropathy DOID:11446 MSH:D020426 PRISM. SNOMEDCT_US_2015_03_01:52585001 UMLS_CUI:C0149940 disease_ontology allergic cutaneous vasculitis A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis DOID:11450 disease_ontology Allergic Cutaneous Angiitis NCI2004_11_17:C35119 A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. sn:IEDB secondary syphilitic meningitis DOID:11451 acute secondary syphilitic meningitis (disorder) acute syphilitic meningitis (secondary) disease_ontology secondary acute syphilitic meningitis true SNOMEDCT_2005_07_31:186863009 acute secondary syphilitic meningitis (disorder) ICD9CM_2006:091.81 acute syphilitic meningitis (secondary) perinatal jaundice due to hepatocellular damage DOID:11452 ICD9CM:774.4 Perinatal jaundice due to hepatocellular damage (disorder) Perinatal jaundice due to hepatocellular damage NOS (disorder) SNOMEDCT_US_2015_03_01:10877007 SNOMEDCT_US_2015_03_01:206463003 SNOMEDCT_US_2015_03_01:206467002 UMLS_CUI:C0158976 disease_ontology Perinatal jaundice due to hepatocellular damage NOS (disorder) SNOMEDCT_2005_07_31:206467002 Perinatal jaundice due to hepatocellular damage (disorder) SNOMEDCT_2005_07_31:10877007 brain compression Compression of brain Compression of brain (disorder) Compression of brain NOS (disorder) DOID:11457 ICD10CM:G93.5 ICD9CM:348.4 SNOMEDCT_US_2015_03_01:193053006 SNOMEDCT_US_2015_03_01:46963008 UMLS_CUI:C0009592 disease_ontology Compression of brain ICD9CM_2006:348.4 Compression of brain NOS (disorder) SNOMEDCT_2005_07_31:193053006 Compression of brain (disorder) SNOMEDCT_2005_07_31:46963008 pseudotumor cerebri DOID:11459 ICD10CM:G93.2 ICD9CM:348.2 MSH:D011559 NCI:C85035 OMIM mapping confirmed by DO. [SN]. OMIM:243200 Pseudotumor cerebri SNOMEDCT_US_2015_03_01:155052007 SNOMEDCT_US_2015_03_01:267701004 SNOMEDCT_US_2015_03_01:68267002 UMLS_CUI:C0033845 benign intracran. hypt. benign intracranial hypertension benign intracranial hypertension (disorder) disease_ontology idiopathic intracranial hypertension ICD9CM_2006:348.2 benign intracranial hypertension SNOMEDCT_2005_07_31:155052007 benign intracran. hypt. SNOMEDCT_2005_07_31:267701004 benign intracran. hypt. MTHICD9_2006:348.2 Pseudotumor cerebri SNOMEDCT_2005_07_31:68267002 benign intracranial hypertension (disorder) autonomic nervous system disease DOID:11465 ICD9CM:337.1 UMLS_CUI:C0154691 autonomic nervous system disorder disease_ontology subglottis cancer Ca larynx - subglottis Ca larynx - subglottis (disorder) DOID:11472 ICD10CM:C32.2 ICD9CM:161.2 NCI:C3546 SNOMEDCT_US_2015_03_01:154483008 SNOMEDCT_US_2015_03_01:269559002 SNOMEDCT_US_2015_03_01:363430007 SNOMEDCT_US_2015_03_01:94075002 UMLS_CUI:C0153485 disease_ontology malignant Subglottic tumor malignant tumor of subglottis (disorder) NCI2004_11_17:C3546 malignant Subglottic tumor Ca larynx - subglottis SNOMEDCT_2005_07_31:154483008 Ca larynx - subglottis (disorder) SNOMEDCT_2005_07_31:269559002 SNOMEDCT_2005_07_31:363430007 malignant tumor of subglottis (disorder) osteoporosis A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. DOID:11476 EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 ICD9CM:733.00 MSH:D010024 NCI:C3298 OMIM:166710 SNOMEDCT_US_2015_03_01:156825006 SNOMEDCT_US_2015_03_01:203428004 SNOMEDCT_US_2015_03_01:203440004 SNOMEDCT_US_2015_03_01:64859006 UMLS_CUI:C0029456 Xref MGI. disease_ontology A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. url:http://en.wikipedia.org/wiki/Osteoporosis url:http://orthoinfo.aaos.org/topic.cfm?topic=a00232 url:http://www.emedicinehealth.com/osteoporosis/article_em.htm url:http://www.mayoclinic.com/health/osteoporosis/DS00128 url:http://www.medicinenet.com/osteoporosis/article.htm url:http://www.niams.nih.gov/Health_Info/Bone/default.asp url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm url:http://www.nof.org/ polydactyly DOID:1148 DOID:14779 ICD10CM:Q69 ICD10CM:Q69.9 ICD9CM:755.0 ICD9CM:755.00 MSH:C562429 MSH:D017689 NCI:C87110 OMIM:174200 OMIM:174500 OMIM:174700 OMIM:603596 SNOMEDCT_US_2015_03_01:156988007 SNOMEDCT_US_2015_03_01:205119005 SNOMEDCT_US_2015_03_01:205120004 SNOMEDCT_US_2015_03_01:205136002 SNOMEDCT_US_2015_03_01:367506006 SNOMEDCT_US_2015_03_01:403562000 SNOMEDCT_US_2015_03_01:74537000 Supernumerary digit UMLS_CUI:C0152427 UMLS_CUI:C0220697 disease_ontology postaxial polydactyly SNOMEDCT_2005_07_31:205119005 Supernumerary digit constrictive pericarditis Constrictive pericarditis Constrictive pericarditis (disorder) Constrictive pericarditis NOS (disorder) DOID:11481 ICD9CM:423.2 MSH:D010494 NCI:C78246 SNOMEDCT_US_2015_03_01:155340008 SNOMEDCT_US_2015_03_01:194969008 SNOMEDCT_US_2015_03_01:85598007 UMLS_CUI:C0031048 disease_ontology Constrictive pericarditis SNOMEDCT_2005_07_31:155340008 Constrictive pericarditis (disorder) SNOMEDCT_2005_07_31:85598007 Constrictive pericarditis ICD9CM_2006:423.2 Constrictive pericarditis NOS (disorder) SNOMEDCT_2005_07_31:194969008 hemopericardium A pericardial effusion that results from blood in the pericardial sac. DOID:11482 Haemopericardium ICD9CM:423.0 MSH:D010490 NCI:C111644 SNOMEDCT_US_2015_03_01:155339006 SNOMEDCT_US_2015_03_01:23412002 UMLS_CUI:C0019064 disease_ontology A pericardial effusion that results from blood in the pericardial sac. url:http://en.wikipedia.org/wiki/Hemopericardium Haemopericardium SNOMEDCT_2005_07_31:155339006 Horner's syndrome Bernard Horner syndrome DOID:11486 Horner syndrome ICD10CM:G90.2 MSH:D006732 NCI:C28155 SNOMEDCT_US_2015_03_01:12731000 SNOMEDCT_US_2015_03_01:192922002 UMLS_CUI:C0019937 cervical sympathetic paralysis disease_ontology SNOMEDCT_2005_07_31:12731000 cervical sympathetic paralysis Bernard Horner syndrome CSP2005:1114-9021 idiopathic peripheral autonomic neuropathy DOID:11488 ICD10CM:G90.0 ICD10CM:G90.09 ICD9CM:337.0 Idiopathic peripheral autonomic neuropathy (disorder) Idiopathic peripheral autonomic neuropathy NOS (disorder) SNOMEDCT_US_2015_03_01:192914009 SNOMEDCT_US_2015_03_01:192916006 SNOMEDCT_US_2015_03_01:86489003 UMLS_CUI:C0154690 disease_ontology Idiopathic peripheral autonomic neuropathy NOS (disorder) SNOMEDCT_2005_07_31:192916006 Idiopathic peripheral autonomic neuropathy (disorder) SNOMEDCT_2005_07_31:86489003 vitamin A deficiency with conjunctival xerosis and Bitot's spot DOID:11489 disease_ontology true vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder) vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) SNOMEDCT_2005_07_31:190610009 vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) SNOMEDCT_2005_07_31:49340009 vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder) vitamin A deficiency with night blindness DOID:11490 disease_ontology true vitamin A deficiency with night blindness (disorder) SNOMEDCT_2005_07_31:15509004 vitamin A deficiency with night blindness (disorder) acquired night blindness DOID:11491 ICD10CM:H53.62 ICD9CM:368.62 SNOMEDCT_US_2015_03_01:53808001 UMLS_CUI:C0152202 acquired night blindness (disorder) disease_ontology SNOMEDCT_2005_07_31:53808001 acquired night blindness (disorder) cardiac tamponade A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. DOID:115 ICD10CM:I31.4 ICD9CM:423.3 MSH:D002305 NCI:C50481 Rose's tamponade SNOMEDCT_US_2015_03_01:155341007 SNOMEDCT_US_2015_03_01:194975004 SNOMEDCT_US_2015_03_01:266295005 SNOMEDCT_US_2015_03_01:35304003 UMLS_CUI:C0007177 disease_ontology pericardial tamponade A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. url:http://en.wikipedia.org/wiki/Cardiac_tamponade url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm CSP2005:1393-3373 Rose's tamponade bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium DOID:11173 DOID:1149 DOID:1150 DOID:1292 bone and joint disorder of back, pelvis and lower limbs of mother, antepartum bone and joint disorder of back, pelvis and lower limbs of mother, postpartum bone and joint disorder of back, pelvis and lower limbs of mother, with delivery bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery disease_ontology true ICD9CM_2006:648.74 bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum ICD9CM_2006:648.71 bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery ICD9CM_2006:648.73 bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum mitral valve insufficiency Congenital insufficiency of mitral valve (disorder) DOID:11502 DOID:11737 DOID:13947 ICD10CM:Q23.3 ICD9CM:396.3 ICD9CM:746.6 MSH:D008944 Mitral valve incompetence NCI:C50852 NCI:C50888 SNOMEDCT_US_2015_03_01:194736003 SNOMEDCT_US_2015_03_01:194977007 SNOMEDCT_US_2015_03_01:233857005 SNOMEDCT_US_2015_03_01:29928006 SNOMEDCT_US_2015_03_01:48724000 UMLS_CUI:C0026266 UMLS_CUI:C0158619 UMLS_CUI:C0264774 congenital mitral insufficiency congenital mitral regurgitation disease_ontology mitral regurgitation Mitral valve incompetence SNOMEDCT_2005_07_31:194977007 CSP2005:1393-3923 mitral regurgitation Congenital insufficiency of mitral valve (disorder) SNOMEDCT_2005_07_31:29928006 SNOMEDCT_2005_07_31:233857005 congenital mitral insufficiency diabetic autonomic neuropathy DOID:11503 Diabetic autonomic neuropathy (disorder) MSH:D003929 NCI:C27068 SNOMEDCT_US_2015_03_01:50620007 UMLS_CUI:C0271686 disease_ontology Diabetic autonomic neuropathy (disorder) SNOMEDCT_2005_07_31:50620007 autonomic neuropathy CSP:2042-2001 CSP:2049-9000 DOID:11504 NCI:C27033 SNOMEDCT_US_2015_03_01:277879009 UMLS_CUI:C0259749 disease_ontology suppurative otitis media A otitis media which involves inflammation of the middle ear with infected effusion containing pus. DOID:11506 ICD10CM:H66 ICD10CM:H66.4 ICD10CM:H66.40 ICD9CM:382 ICD9CM:382.4 MSH:D010035 Otitis media with effusion - purulent Purulent otitis media (disorder) Purulent otitis media NOS Purulent otitis media NOS (disorder) SNOMEDCT_US_2015_03_01:155229002 SNOMEDCT_US_2015_03_01:194258000 SNOMEDCT_US_2015_03_01:194280002 SNOMEDCT_US_2015_03_01:194285007 SNOMEDCT_US_2015_03_01:267758003 SNOMEDCT_US_2015_03_01:38394007 SNOMEDCT_US_2015_03_01:39288006 Suppurative and unspecified otitis media Suppurative and unspecified otitis media (disorder) Suppurative otitis med. Suppurative otitis media Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media UMLS_CUI:C0029888 Unspecified suppurative otitis media disease_ontology ICD9CM_2006:382 Suppurative and unspecified otitis media Otitis media with effusion - purulent SNOMEDCT_2005_07_31:38394007 Purulent otitis media NOS SNOMEDCT_2005_07_31:155229002 SNOMEDCT_2005_07_31:155225008 Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media Purulent otitis media NOS (disorder) SNOMEDCT_2005_07_31:194285007 Otitis media with effusion - purulent SNOMEDCT_2005_07_31:194258000 Purulent otitis media (disorder) SNOMEDCT_2005_07_31:39288006 MTH:NOCODE Suppurative otitis media MTHICD9_2006:382.4 Purulent otitis media NOS A otitis media which involves inflammation of the middle ear with infected effusion containing pus. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:267758003 Suppurative otitis med. ICD9CM_2006:382.4 Unspecified suppurative otitis media SNOMEDCT_2005_07_31:194280002 Suppurative and unspecified otitis media (disorder) rumination disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. DOID:11507 ICD9CM:307.53 MSH:D019959 NCI:C92567 Psychogenic rumination (disorder) SNOMEDCT_US_2015_03_01:37941009 UMLS_CUI:C0154575 disease_ontology An eating disorder that is characterized by effortless regurgitation of most meals following consumption. url:http://en.wikipedia.org/wiki/Rumination_syndrome Psychogenic rumination (disorder) SNOMEDCT_2005_07_31:192014006 hepatic vein thrombosis Budd-Chiari syndrome DOID:11512 ICD10CM:I82.0 MSH:D006502 SNOMEDCT_US_2015_03_01:195436007 SNOMEDCT_US_2015_03_01:38739001 UMLS_CUI:C0019154 disease_ontology Budd-Chiari syndrome ICD9CM_2006:453.0 fissured tongue Congenital fissure of tongue (disorder) Congenital plicated tongue (disorder) DOID:11514 Fissure of tongue Fissure of tongue, congenital Furrowed tongue GEOGRAPHIC TONGUE AND FISSURED TONGUE ICD10CM:K14.5 ICD9CM:529.5 MSH:D014063 OMIM mapping confirmed by DO. [SN]. OMIM:137400 Plicated tongue Plicated tongue (disorder) SNOMEDCT_US_2015_03_01:204627005 SNOMEDCT_US_2015_03_01:52368004 Tongue, Fissured UMLS_CUI:C0040412 disease_ontology lingua plicata scrotal tongue Plicated tongue (disorder) SNOMEDCT_2005_07_31:52368004 Congenital fissure of tongue (disorder) SNOMEDCT_2005_07_31:3803006 Congenital plicated tongue (disorder) SNOMEDCT_2005_07_31:204631004 Furrowed tongue MTHICD9_2006:529.5 ICD9CM_2006:529.5 Plicated tongue Fissure of tongue, congenital ICD9CM_2006:750.13 Fissure of tongue SNOMEDCT_2005_07_31:204627005 hypertensive heart disease A heart disease that is caused by high blood pressure. DOID:11516 ICD10CM:I11 ICD10CM:I11.9 ICD9CM:402 ICD9CM:402.9 SNOMEDCT_US_2015_03_01:155297007 SNOMEDCT_US_2015_03_01:194769003 SNOMEDCT_US_2015_03_01:194772005 SNOMEDCT_US_2015_03_01:64715009 UMLS_CUI:C0152105 disease_ontology A heart disease that is caused by high blood pressure. url:http://en.wikipedia.org/wiki/Heart_disease url:http://en.wikipedia.org/wiki/Hypertensive_heart_disease abnormal pupillary function DOID:11518 ICD10CM:H57.09 ICD9CM:379.49 UMLS_CUI:C0155376 disease_ontology benign hypertensive renal disease DOID:11520 ICD9CM:403.1 ICD9CM:403.10 SNOMEDCT_US_2015_03_01:193003 UMLS_CUI:C0155596 benign hypertensive renal disease (disorder) disease_ontology hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure ICD9CM_2006:403.1 hypertensive renal disease, benign SNOMEDCT_2005_07_31:193003 benign hypertensive renal disease (disorder) ICD9CM_2006:403.10 hypertensive renal disease, benign, without mention of renal failure Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. Clostridium perfringens food poisoning DOID:11523 Food poisoning due to C. welchii Food poisoning due to Clostridium perfringens (disorder) Food poisoning due to Clostridium perfringens [C. welchii] disease_ontology food poisoning due to clostridium perfringens true Food poisoning due to Clostridium perfringens (disorder) SNOMEDCT_2005_07_31:70014009 Food poisoning due to C. welchii MTHICD9_2006:005.2 Food poisoning due to Clostridium perfringens [C. welchii] ICD9CM_2006:005.2 Clostridium perfringens food poisoning SNOMEDCT_2005_07_31:186111000 A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm url:http://www.merck.com/mmpe/sec14/ch178/ch178g.html Hyphema of iris and ciliary body DOID:11524 disease_ontology true Iris and ciliary body vascular disorder DOID:11525 disease_ontology true vascular disorder of iris and ciliary body ICD9CM_2006:364.4 vascular disorder of iris and ciliary body laryngostenosis DOID:11527 ICD10CM:J38.6 ICD9CM:478.74 MSH:D007829 NCI:C79608 SNOMEDCT_US_2015_03_01:195864007 SNOMEDCT_US_2015_03_01:75547007 Stenosis of larynx Stenosis of larynx (disorder) UMLS_CUI:C0023075 disease_ontology ICD9CM_2006:478.74 Stenosis of larynx SNOMEDCT_2005_07_31:195864007 Stenosis of larynx SNOMEDCT_2005_07_31:75547007 Stenosis of larynx (disorder) dysplasia of prostate DOID:11535 disease_ontology true recurrent corneal erosion DOID:11541 ICD10CM:H18.83 ICD9CM:371.42 SNOMEDCT_US_2015_03_01:155157003 SNOMEDCT_US_2015_03_01:2055003 SNOMEDCT_US_2015_03_01:267732003 UMLS_CUI:C0155119 disease_ontology recurrent erosion of cornea recurrent erosion syndrome ICD9CM_2006:371.42 recurrent erosion of cornea SNOMEDCT_2005_07_31:2055003 recurrent erosion syndrome corneal abscess Corneal abscess Corneal abscess (disorder) DOID:11543 ICD10CM:H16.31 ICD9CM:370.55 NCI:C26969 SNOMEDCT_US_2015_03_01:64366002 UMLS_CUI:C0155091 disease_ontology Corneal abscess NCI2004_11_17:C26969 Corneal abscess (disorder) SNOMEDCT_2005_07_31:64366002 corneal deposit Corneal deposit (disorder) Corneal deposit, unspecified DOID:11547 Deposits - cornea ICD10CM:H18.00 ICD9CM:371.10 SNOMEDCT_US_2015_03_01:193803001 SNOMEDCT_US_2015_03_01:193804007 SNOMEDCT_US_2015_03_01:74460005 UMLS_CUI:C0162281 Unspecified corneal deposit (disorder) disease_ontology Deposits - cornea SNOMEDCT_2005_07_31:193803001 Corneal deposit, unspecified ICD9CM_2006:371.10 SNOMEDCT_2005_07_31:193804007 Unspecified corneal deposit (disorder) Corneal deposit (disorder) SNOMEDCT_2005_07_31:74460005 Adie syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. Adie's pupil or syndrome Adie's pupil syndrome Adie's syndrome DOID:11549 Holmes-Adie syndrome MSH:D000270 NCI:C34357 OMIM mapping confirmed by DO. [SN]. OMIM:103100 SNOMEDCT_US_2015_03_01:123051004 SNOMEDCT_US_2015_03_01:24225004 UMLS_CUI:C0001519 disease_ontology Adie's pupil or syndrome MTHICD9_2006:379.46 A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. url:http://en.wikipedia.org/wiki/Adie_syndrome url:http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome Adie's pupil syndrome SNOMEDCT_2005_07_31:24225004 Holmes-Adie syndrome NCI2004_11_17:C34357 oculomotor nerve paralysis DOID:11550 ICD10CM:H49.0 III nerve palsy IIIrd nerve Paralysis MSH:D015840 NCI:C27597 SNOMEDCT_US_2015_03_01:12900003 SNOMEDCT_US_2015_03_01:30764004 SNOMEDCT_US_2015_03_01:388980004 Third cranial nerve paralysis, NOS UMLS_CUI:C0028866 disease_ontology SNOMEDCT_2005_07_31:30764004 Third cranial nerve paralysis, NOS III nerve palsy SNOMEDCT_2005_07_31:12900003 III nerve palsy SNOMEDCT_2005_07_31:388980004 IIIrd nerve Paralysis NCI2004_11_17:C27597 Bowman's membrane folds or rupture Bowman membrane folds or rupture DOID:11552 ICD10CM:H18.31 ICD9CM:371.31 SNOMEDCT_US_2015_03_01:193820002 SNOMEDCT_US_2015_03_01:45382000 UMLS_CUI:C0155115 disease_ontology Chandler syndrome Chandler syndrome (disorder) Chandler's syndrome (disorder) DOID:11554 Dystrophy of corneal endothelium Endothelial corneal dystrophy Endothelial corneal dystrophy (disorder) [Ambiguous] ICD10CM:H18.51 ICD9CM:371.57 MSH:D057129 Posterior membrane corneal dystrophy (disorder) SNOMEDCT_US_2015_03_01:16949007 SNOMEDCT_US_2015_03_01:231935005 SNOMEDCT_US_2015_03_01:392481002 SNOMEDCT_US_2015_03_01:404632009 SNOMEDCT_US_2015_03_01:416960004 UMLS_CUI:C0544008 disease_ontology Endothelial corneal dystrophy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:16949007 Posterior membrane corneal dystrophy (disorder) SNOMEDCT_2005_07_31:231935005 Chandler syndrome (disorder) SNOMEDCT_2005_07_31:392481002 Endothelial corneal dystrophy ICD9CM_2006:371.57 Chandler's syndrome (disorder) SNOMEDCT_2005_07_31:404632009 Dystrophy of corneal endothelium SNOMEDCT_2005_07_31:416960004 Fuchs' endothelial dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. DOID:11555 EFO:0003946 FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy ICD10CM:H18.51 MSH:D005642 NCI:C84721 OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523 ORDO:98974 SNOMEDCT_US_2015_03_01:16949007 SNOMEDCT_US_2015_03_01:193839007 SNOMEDCT_US_2015_03_01:393581005 UMLS_CUI:C0016781 Xref MGI. disease_ontology Fuchs' endothelial corneal dystrophy SNOMEDCT_2005_07_31:193839007 Fuchs' corneal dystrophy SNOMEDCT_2005_07_31:393581005 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. url:http://en.wikipedia.org/wiki/Fuchs%27_dystrophy url:http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy url:http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1 url:http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. DOID:11557 ICD10CM:H65.0 ICD10CM:H65.00 ICD9CM:381.01 SNOMEDCT_US_2015_03_01:11957006 SNOMEDCT_US_2015_03_01:194240006 UMLS_CUI:C0155415 acute non-suppurative otitis media - serous (disorder) acute serous otitis media (disorder) [Ambiguous] disease_ontology SNOMEDCT_2005_07_31:11957006 acute serous otitis media (disorder) [Ambiguous] A acute transudative otitis media with thin, watery and sterile effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:194240006 acute non-suppurative otitis media - serous (disorder) acute allergic serous otitis media A acute serous otitis media caused by an allergen. DOID:11558 ICD9CM:381.04 SNOMEDCT_US_2015_03_01:194241005 SNOMEDCT_US_2015_03_01:59275002 UMLS_CUI:C0155418 acute allergic serous otitis media (disorder) disease_ontology A acute serous otitis media caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 SNOMEDCT_2005_07_31:59275002 acute allergic serous otitis media (disorder) chondrocalcinosis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. DOID:11303 DOID:1155 DOID:1156 DOID:12090 DOID:12102 DOID:12945 DOID:13298 DOID:13299 DOID:13301 DOID:13302 DOID:13303 DOID:13304 DOID:14143 DOID:14220 DOID:14513 DOID:1834 DOID:1945 DOID:2486 HP:0000934 ICD9CM:712.1 MSH:D002805 NCI:C34955 OMIM:118600 OMIM:118610 OMIM:600668 ORDO:1416 SNOMEDCT_US_2015_03_01:156881000 SNOMEDCT_US_2015_03_01:201624004 SNOMEDCT_US_2015_03_01:201625003 SNOMEDCT_US_2015_03_01:201636005 SNOMEDCT_US_2015_03_01:239834007 SNOMEDCT_US_2015_03_01:268142006 SNOMEDCT_US_2015_03_01:60782007 UMLS_CUI:C0033802 UMLS_CUI:C0157852 Xref MGI. calcium pyrophosphate deposition disease disease_ontology pseudogout An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. url:http://en.wikipedia.org/wiki/Chondrocalcinosis url:http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx url:http://www.mayoclinic.com/health/pseudogout/DS00717 url:http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm url:http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp hypertensive retinopathy DOID:11561 ICD10CM:H35.03 ICD9CM:362.11 MSH:D058437 NCI:C3514 SNOMEDCT_US_2015_03_01:155108001 SNOMEDCT_US_2015_03_01:193356005 SNOMEDCT_US_2015_03_01:193358006 SNOMEDCT_US_2015_03_01:421731000 SNOMEDCT_US_2015_03_01:422001004 SNOMEDCT_US_2015_03_01:6962006 UMLS_CUI:C0152132 disease_ontology retinal vasculitis DOID:11563 ICD10CM:H35.06 ICD9CM:362.18 MSH:D031300 Retinal vasculitis Retinal vasculitis (disorder) Retinal vasculitis NOS (disorder) SNOMEDCT_US_2015_03_01:193367006 SNOMEDCT_US_2015_03_01:77628002 UMLS_CUI:C0152026 disease_ontology ICD9CM_2006:362.18 Retinal vasculitis Retinal vasculitis NOS (disorder) SNOMEDCT_2005_07_31:193367006 Retinal vasculitis (disorder) SNOMEDCT_2005_07_31:77628002 neurocirculatory asthenia A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. Cardiovascular malfunction arising from mental factors Cardiovascular neurosis DOID:11569 Da Costa's syndrome ICD9CM:306.2 Krishaber's disease MSH:D009449 SNOMEDCT_US_2015_03_01:154922007 SNOMEDCT_US_2015_03_01:191960008 SNOMEDCT_US_2015_03_01:191961007 SNOMEDCT_US_2015_03_01:191962000 SNOMEDCT_US_2015_03_01:191963005 SNOMEDCT_US_2015_03_01:192434000 SNOMEDCT_US_2015_03_01:46219009 SNOMEDCT_US_2015_03_01:72994002 UMLS_CUI:C0027821 disease_ontology Krishaber's disease SNOMEDCT_2005_07_31:72994002 Cardiovascular malfunction arising from mental factors ICD9CM_2006:306.2 Da Costa's syndrome SNOMEDCT_2005_07_31:46219009 A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. url:http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ Cardiovascular neurosis MTHICD9_2006:306.2 Listeria meningitis DOID:11572 MSH:D008584 SNOMEDCT_US_2015_03_01:230151007 SNOMEDCT_US_2015_03_01:31568009 UMLS_CUI:C0025293 disease_ontology listeriosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. DOID:11573 ICD10CM:A32 ICD10CM:A32.9 ICD9CM:027.0 Infection by Listeria monocytogenes Infection due to Listeria monocytogenes (disorder) Listeria infection Listeriosis (disorder) Listeriosis NOS (disorder) Listeriosis, unspecified (disorder) MSH:D008088 NCI:C82994 SNOMEDCT_US_2015_03_01:186315001 SNOMEDCT_US_2015_03_01:186320001 SNOMEDCT_US_2015_03_01:187320005 SNOMEDCT_US_2015_03_01:406591006 SNOMEDCT_US_2015_03_01:4241002 UMLS_CUI:C0023860 disease_ontology Listeriosis NOS (disorder) SNOMEDCT_2005_07_31:186320001 Infection by Listeria monocytogenes MTHICD9_2006:027.0 A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. url:http://emedicine.medscape.com/article/965841-overview#a0104 url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm Listeriosis, unspecified (disorder) SNOMEDCT_2005_07_31:187320005 Listeriosis (disorder) SNOMEDCT_2005_07_31:4241002 CSP2005:0368-3200 Listeria infection Infection due to Listeria monocytogenes (disorder) SNOMEDCT_2005_07_31:406591006 streptococcal meningitis DOID:11574 ICD10CM:G00.2 ICD9CM:320.2 SNOMEDCT_US_2015_03_01:4510004 Streptococcal meningitis (disorder) UMLS_CUI:C0154639 disease_ontology SNOMEDCT_2005_07_31:4510004 Streptococcal meningitis (disorder) pneumococcal meningitis DOID:11575 Pneumococcal meningitis Pneumococcal meningitis (disorder) disease_ontology true Pneumococcal meningitis (disorder) SNOMEDCT_2005_07_31:51169003 ICD9CM_2006:320.1 Pneumococcal meningitis Cauda equina syndrome A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. DOID:11577 ICD10CM:G83.4 ICD9CM:344.6 MSH:D011128 NCI:C35436 SNOMEDCT_US_2015_03_01:155032006 SNOMEDCT_US_2015_03_01:192970008 SNOMEDCT_US_2015_03_01:192972000 SNOMEDCT_US_2015_03_01:192973005 SNOMEDCT_US_2015_03_01:89356000 UMLS_CUI:C0392548 disease_ontology A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome Escherichia coli meningitis DOID:11578 Escherichia coli meningitis (disorder) Meningitis due to E. coli disease_ontology true MTHICD9_2006:320.82 Meningitis due to E. coli Escherichia coli meningitis (disorder) SNOMEDCT_2005_07_31:192655005 phlyctenulosis DOID:11581 ICD10CM:H16.25 ICD9CM:370.31 Phlyctenular keratoconjunctivitis SNOMEDCT_US_2015_03_01:193773009 SNOMEDCT_US_2015_03_01:67895005 Strumous ophthalmia UMLS_CUI:C0155080 disease_ontology Phlyctenular keratoconjunctivitis SNOMEDCT_2005_07_31:193773009 SNOMEDCT_2005_07_31:67895005 Strumous ophthalmia ICD9CM_2006:370.31 Phlyctenular keratoconjunctivitis syphilitic aortitis DOID:11582 Syphilitic aortitis Syphilitic aortitis (disorder) disease_ontology true SNOMEDCT_2005_07_31:20735004 Syphilitic aortitis (disorder) SNOMEDCT_2005_07_31:186872001 Syphilitic aortitis ICD9CM_2006:093.1 Syphilitic aortitis acute schizophrenic episode in remission DOID:11584 disease_ontology true Riley-Day syndrome DOID:11589 HSAN III ICD10CM:G90.1 MSH:D004402 NCI:C84706 OMIM mapping confirmed by DO. [SN]. OMIM:223900 SNOMEDCT_US_2015_03_01:204087006 SNOMEDCT_US_2015_03_01:29159009 UMLS_CUI:C0013364 disease_ontology familial autonomic nervous dysfunction familial dysautonomia CSP2005:0725-5371 familial autonomic nervous dysfunction HSAN III SNOMEDCT_2005_07_31:29159009 SNOMEDCT_2005_07_31:204087006 familial dysautonomia functional gastric disease DOID:1159 ICD9CM:536.8 UMLS_CUI:C0013396 disease_ontology bladder lateral wall cancer DOID:11593 ICD10CM:C67.2 ICD9CM:188.2 Lateral Wall of bladder NCI:C12333 SNOMEDCT_US_2015_03_01:188241004 SNOMEDCT_US_2015_03_01:93863000 UMLS_CUI:C0496828 disease_ontology malignant neoplasm of lateral wall of urinary bladder malignant neoplasm of lateral wall of urinary bladder (disorder) ICD9CM_2006:188.2 malignant neoplasm of lateral wall of urinary bladder Lateral Wall of bladder NCI2004_11_17:C12333 SNOMEDCT_2005_07_31:188241004 malignant neoplasm of lateral wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:93863000 malignant neoplasm of lateral wall of urinary bladder ring staphyloma DOID:11594 ICD10CM:H15.85 ICD9CM:379.15 Ring staphyloma (disorder) SNOMEDCT_US_2015_03_01:5299007 UMLS_CUI:C0155363 disease_ontology Ring staphyloma (disorder) SNOMEDCT_2005_07_31:5299007 scleral staphyloma DOID:11595 ICD10CM:H15.84 ICD9CM:379.11 SNOMEDCT_US_2015_03_01:111534007 Scleral ectasia Scleral staphyloma (disorder) UMLS_CUI:C0155359 disease_ontology ICD9CM_2006:379.11 Scleral ectasia SNOMEDCT_2005_07_31:111534007 Scleral staphyloma (disorder) cold injury syndrome of newborn Cold injury syndrome of newborn (disorder) DOID:11597 disease_ontology true Cold injury syndrome of newborn (disorder) SNOMEDCT_2005_07_31:26746005 Frey Syndrome Baillarger Syndrome DOID:11599 Gustatory hyperhidrosis (disorder) Gustatory sweating (finding) MSH:D013547 OMIM mapping confirmed by DO. [SN]. OMIM:144100 SNOMEDCT_US_2015_03_01:238758008 SNOMEDCT_US_2015_03_01:56046002 UMLS_CUI:C0038994 disease_ontology gustatory sweating Gustatory hyperhidrosis (disorder) SNOMEDCT_2005_07_31:238758008 Gustatory sweating (finding) SNOMEDCT_2005_07_31:56046002 pericardium cancer DOID:116 DOID:5780 ICD10CM:C38.0 NCI:C4567 NCI:C4651 Pericardial tumor SNOMEDCT_US_2015_03_01:126734005 SNOMEDCT_US_2015_03_01:187884007 SNOMEDCT_US_2015_03_01:93957005 SNOMEDCT_US_2015_03_01:94997003 UMLS_CUI:C0346609 UMLS_CUI:C0349574 disease_ontology malignant neoplasm of pericardium malignant tumor of Pericardium NCI2004_11_17:C4651 Pericardial tumor NCI2004_11_17:C4567 malignant tumor of Pericardium secondary malignant neoplasm of lymph nodes of multiple site DOID:11600 disease_ontology secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder) secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder) secondary and unspecified malignant neoplasm of lymph nodes of multiple sites secondary malignant neoplasm of lymph nodes of multiple sites (disorder) true ICD9CM_2006:196.8 secondary and unspecified malignant neoplasm of lymph nodes of multiple sites SNOMEDCT_2005_07_31:188430004 secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder) SNOMEDCT_2005_07_31:190144001 secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder) SNOMEDCT_2005_07_31:94396003 secondary malignant neoplasm of lymph nodes of multiple sites (disorder) infant gynecomastia DOID:11603 ICD10CM:P83.4 ICD9CM:778.7 MSH:D006177 Neonatal gynaecomastia SNOMEDCT_US_2015_03_01:157159001 SNOMEDCT_US_2015_03_01:34831003 UMLS_CUI:C1449721 breast engorgement in newborn breast engorgement in newborn (disorder) disease_ontology SNOMEDCT_2005_07_31:34831003 breast engorgement in newborn (disorder) ICD9CM_2006:778.7 breast engorgement in newborn Neonatal gynaecomastia SNOMEDCT_2005_07_31:157159001 idiopathic hydrops fetalis DOID:11604 Hydrops fetalis not due to isoimmunization Idiopathic hydrops fetalis (disorder) Idiopathic hydrops fetalis (disorder) [Ambiguous] Non-immune hydrops fetalis Non-immune hydrops fetalis (disorder) Perinatal skin prob. NOS disease_ontology true Idiopathic hydrops fetalis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:59928009 Non-immune hydrops fetalis SNOMEDCT_2005_07_31:206551005 Perinatal skin prob. NOS SNOMEDCT_2005_07_31:157160006 Idiopathic hydrops fetalis (disorder) SNOMEDCT_2005_07_31:206538000 Perinatal skin prob. NOS SNOMEDCT_2005_07_31:268886003 Hydrops fetalis not due to isoimmunization ICD9CM_2006:778.0 Non-immune hydrops fetalis (disorder) SNOMEDCT_2005_07_31:276509008 ileal disease DOID:11606 disease_ontology true candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. Candida meningitis Candidal meningitis (disorder) DOID:11607 disease_ontology true A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf Candidal meningitis (disorder) SNOMEDCT_2005_07_31:45021001 fungal meningitis DOID:11608 Fungal meningitis (disorder) MSH:D016921 SNOMEDCT_US_2015_03_01:24321005 UMLS_CUI:C0085438 disease_ontology Fungal meningitis (disorder) SNOMEDCT_2005_07_31:24321005 polycystic ovary syndrome A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. DOID:11612 EFO:0000660 ICD10CM:E28.2 ICD9CM:256.4 MSH:D011085 Multicystic ovaries NCI:C26862 NCI:C92847 OMIM mapping confirmed by DO. [SN]. OMIM:184700 PCOS Polycystic Ovarian disease Polycystic ovaries Polycystic ovaries (disorder) Polycystic ovary syndrome SNOMEDCT_US_2015_03_01:154714009 SNOMEDCT_US_2015_03_01:190549002 SNOMEDCT_US_2015_03_01:237055002 SNOMEDCT_US_2015_03_01:237792009 SNOMEDCT_US_2015_03_01:271199009 SNOMEDCT_US_2015_03_01:69878008 Stein-Leventhal synd. Stein-Leventhal syndrome UMLS_CUI:C0032460 disease_ontology polycystic ovary Multicystic ovaries SNOMEDCT_2005_07_31:190549002 Polycystic ovaries (disorder) SNOMEDCT_2005_07_31:69878008 Multicystic ovaries SNOMEDCT_2005_07_31:237792009 CSP2005:2587-6155 PCOS Polycystic ovary syndrome SNOMEDCT_2005_07_31:237055002 NCI2004_11_17:C26862 Stein-Leventhal syndrome SNOMEDCT_2005_07_31:271199009 Stein-Leventhal synd. MTHICD9_2006:256.4 Stein-Leventhal syndrome CSP2005:2587-6111 polycystic ovary ICD9CM_2006:256.4 Polycystic ovaries SNOMEDCT_2005_07_31:154714009 Stein-Leventhal synd. A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. PMID:20591140 url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome NCI2004_11_17:C27086 Polycystic Ovarian disease hyperandrogenism DOID:11613 MSH:D017588 SNOMEDCT_US_2015_03_01:237793004 UMLS_CUI:C0206081 disease_ontology hyperandrogenization syndrome SNOMEDCT_2005_07_31:237793004 hyperandrogenization syndrome penile cancer Ca penis Ca penis (disorder) DOID:11614 DOID:11615 ICD10CM:C60 ICD10CM:C60.2 ICD10CM:C60.9 ICD9CM:187.3 ICD9CM:187.4 MSH:D010412 NCI:C7547 Penile Ca SNOMEDCT_US_2015_03_01:154536009 SNOMEDCT_US_2015_03_01:188230001 SNOMEDCT_US_2015_03_01:188231002 SNOMEDCT_US_2015_03_01:269605006 SNOMEDCT_US_2015_03_01:363516004 SNOMEDCT_US_2015_03_01:93716006 SNOMEDCT_US_2015_03_01:93954003 UMLS_CUI:C0153600 UMLS_CUI:C0153601 disease_ontology malignant Penile tumor malignant neoplasm of body of penis malignant neoplasm of penis, part unspecified malignant neoplasm of penis, part unspecified (disorder) malignant tumor of body of penis (disorder) malignant tumor of penis (disorder) penile neoplasm SNOMEDCT_2005_07_31:363516004 malignant tumor of penis (disorder) SNOMEDCT_2005_07_31:188230001 malignant tumor of body of penis (disorder) ICD9CM_2006:187.4 malignant neoplasm of penis, part unspecified Ca penis SNOMEDCT_2005_07_31:154536009 NCI2004_11_17:C7547 malignant Penile tumor Penile Ca SNOMEDCT_2005_07_31:93954003 Ca penis (disorder) SNOMEDCT_2005_07_31:269605006 SNOMEDCT_2005_07_31:188231002 malignant neoplasm of penis, part unspecified (disorder) dental pulp necrosis DOID:11623 ICD10CM:K04.1 ICD9CM:522.1 MSH:D003790 SNOMEDCT_US_2015_03_01:196332000 SNOMEDCT_US_2015_03_01:196334004 SNOMEDCT_US_2015_03_01:42711005 UMLS_CUI:C0011407 disease_ontology necrosis of the pulp necrosis of the pulp NOS (disorder) necrotic pulp pulp necrosis ICD9CM_2006:522.1 necrosis of the pulp SNOMEDCT_2005_07_31:196334004 necrosis of the pulp NOS (disorder) SNOMEDCT_2005_07_31:196332000 pulp necrosis SNOMEDCT_2005_07_31:42711005 necrotic pulp penile neoplasm DOID:11624 MSH:D010412 NCI:C3317 Penile tumor SNOMEDCT_US_2015_03_01:126896003 UMLS_CUI:C0030849 disease_ontology neoplasm of penis (disorder) SNOMEDCT_2005_07_31:126896003 neoplasm of penis (disorder) NCI2004_11_17:C3317 Penile tumor pelvic muscle wasting DOID:11629 ICD10CM:N81.84 ICD9CM:618.83 UMLS_CUI:C1456255 disease_ontology thyroid hormone resistance syndrome DOID:11633 Generalized thyroid hormone resistance (disorder) MSH:D018382 NCI:C85191 OMIM mapping confirmed by DO. [LS]. OMIM:188570 OMIM:274300 Refetoff syndrome (disorder) SNOMEDCT_US_2015_03_01:111567006 SNOMEDCT_US_2015_03_01:237559000 SNOMEDCT_US_2015_03_01:237560005 SNOMEDCT_US_2015_03_01:50375007 Thyroid hormone resistance syndrome (disorder) Thyroid hormone responsiveness defect (disorder) UMLS_CUI:C2940786 disease_ontology thyroid hormone resistance SNOMEDCT_2005_07_31:237559000 Thyroid hormone resistance syndrome (disorder) CSP2005:2928-9974 thyroid hormone resistance Generalized thyroid hormone resistance (disorder) SNOMEDCT_2005_07_31:237560005 Refetoff syndrome (disorder) SNOMEDCT_2005_07_31:111567006 CSP2005:4008-0047 thyroid hormone resistance SNOMEDCT_2005_07_31:50375007 Thyroid hormone responsiveness defect (disorder) myxedema DOID:11634 ICD10CM:E03.9 MSH:D009230 MYXEDEMA Myxedema (disorder) Myxoedema NCI:C34834 OMIM mapping confirmed by DO. [SN]. OMIM:255900 SNOMEDCT_US_2015_03_01:154660000 SNOMEDCT_US_2015_03_01:190274003 SNOMEDCT_US_2015_03_01:267465007 SNOMEDCT_US_2015_03_01:43153006 UMLS_CUI:C0027145 disease_ontology myxoedema Myxoedema SNOMEDCT_2005_07_31:267465007 Myxoedema SNOMEDCT_2005_07_31:190274003 Myxedema (disorder) SNOMEDCT_2005_07_31:43153006 Myxoedema SNOMEDCT_2005_07_31:154660000 MTH:NOCODE MYXEDEMA CSP2005:2928-6930 myxoedema accommodative spasm DOID:11637 ICD10CM:H52.53 ICD9CM:367.53 SNOMEDCT_US_2015_03_01:30069002 Spasm of accommodation Spasm of accommodation (disorder) UMLS_CUI:C0152196 disease_ontology SNOMEDCT_2005_07_31:30069002 Spasm of accommodation (disorder) ICD9CM_2006:367.53 Spasm of accommodation presbyopia DOID:11638 ICD10CM:H52.4 ICD9CM:367.4 MSH:D011305 Presbyopia (disorder) SNOMEDCT_US_2015_03_01:155135005 SNOMEDCT_US_2015_03_01:41256004 UMLS_CUI:C0033075 disease_ontology Presbyopia (disorder) SNOMEDCT_2005_07_31:41256004 transitory tachypnea of newborn DOID:11649 Idiopathic tachypnea of newborn Transitory tachypnea of newborn (disorder) disease_ontology true SNOMEDCT_2005_07_31:7550008 Transitory tachypnea of newborn (disorder) Idiopathic tachypnea of newborn MTHICD9_2006:770.6 bronchopulmonary dysplasia Bronchopulmonary dysplasia of newborn (disorder) DOID:11650 DOID:11651 Perinatal bronchopulmonary dysplasia disease_ontology neonatal chronic respiratory disease true Bronchopulmonary dysplasia of newborn (disorder) SNOMEDCT_2005_07_31:67569000 MTHICD9_2006:770.7 Perinatal bronchopulmonary dysplasia conjunctival deposit Conjunctival deposit (disorder) Conjunctival deposits DOID:11653 ICD10CM:H11.11 ICD9CM:372.56 SNOMEDCT_US_2015_03_01:62660000 UMLS_CUI:C0162280 disease_ontology Conjunctival deposits ICD9CM_2006:372.56 Conjunctival deposit (disorder) SNOMEDCT_2005_07_31:62660000 nevus of ota DOID:11654 Naevus fuscocerulophthalmomaxillaris Naevus fusoceruleus ophthalmomaxillaris Oculocutaneous melanocytic nevus Oculodermal malanocytosis disease_ontology nevus of Ota (disorder) primary acquired melanosis primary acquired melanosis of conjunctiva (disorder) true Naevus fusoceruleus ophthalmomaxillaris SNOMEDCT_2005_07_31:254817005 SNOMEDCT_2005_07_31:254212008 nevus of Ota (disorder) SNOMEDCT_2005_07_31:415172002 primary acquired melanosis Oculodermal malanocytosis SNOMEDCT_2005_07_31:27486008 NCI2004_11_17:C7583 Oculocutaneous melanocytic nevus SNOMEDCT_2005_07_31:415173007 primary acquired melanosis of conjunctiva (disorder) Naevus fuscocerulophthalmomaxillaris SNOMEDCT_2005_07_31:414929001 cicatricial pemphigoid A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. Cicatricial pemphigoid with ocular involvement DOID:11655 DOID:11656 ICD10CM:L12.1 ICD9CM:694.6 ICD9CM:694.61 MSH:D010390 NCI:C34907 Ocular pemphigoid SNOMEDCT_US_2015_03_01:193905009 SNOMEDCT_US_2015_03_01:194590009 SNOMEDCT_US_2015_03_01:200913007 SNOMEDCT_US_2015_03_01:200914001 SNOMEDCT_US_2015_03_01:200915000 SNOMEDCT_US_2015_03_01:34250006 SNOMEDCT_US_2015_03_01:76092003 UMLS_CUI:C0030804 UMLS_CUI:C0157721 benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement disease_ontology ocular pemphigus ICD9CM_2006:694.61 benign mucous membrane pemphigoid with ocular involvement Cicatricial pemphigoid with ocular involvement SNOMEDCT_2005_07_31:76092003 Ocular pemphigoid SNOMEDCT_2005_07_31:193905009 SNOMEDCT_2005_07_31:194590009 SNOMEDCT_2005_07_31:200914001 SNOMEDCT_2005_07_31:34250006 A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. url:http://en.wikipedia.org/wiki/Cicatricial_pemphigoid url:http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. DOID:1165 DOID:1166 DOID:1177 DOID:1178 DOID:1179 DOID:12951 DOID:13354 DOID:13355 DOID:13771 Hench's syndrome Hench-Rosenberg syndrome ICD10CM:M12.3 ICD10CM:M12.30 ICD9CM:719.3 ICD9CM:719.30 ICD9CM:719.31 MSH:C538103 SNOMEDCT_US_2015_03_01:202455001 SNOMEDCT_US_2015_03_01:202456000 SNOMEDCT_US_2015_03_01:202457009 SNOMEDCT_US_2015_03_01:202466008 SNOMEDCT_US_2015_03_01:50442003 UMLS_CUI:C0085574 UMLS_CUI:C0158178 disease_ontology A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. url:http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm url:http://en.wikipedia.org/wiki/Palindromic_rheumatism url:http://www.palindromicrheumatism.org/ blue color blindness A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. DOID:11661 ICD10CM:H53.55 ICD9CM:368.53 MSH:D003117 OMIM mapping confirmed by DO. [SN]. OMIM:190900 SNOMEDCT_US_2015_03_01:51886007 SNOMEDCT_US_2015_03_01:85049009 Tritan defect Tritanopia UMLS_CUI:C0155017 disease_ontology A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. url:http://www.ncbi.nlm.nih.gov/pubmed/2788922 url:http://www.omim.org/entry/190900 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 ICD9CM_2006:368.53 Tritan defect MTHICD9_2006:368.53 Tritanopia color vision defect DOID:11662 disease_ontology true nephrosclerosis DOID:11664 ICD10CM:I12 ICD10CM:N26.9 ICD9CM:587 MSH:D009400 SNOMEDCT_US_2015_03_01:194773000 SNOMEDCT_US_2015_03_01:197658002 SNOMEDCT_US_2015_03_01:197662008 SNOMEDCT_US_2015_03_01:32916005 UMLS_CUI:C0027719 disease_ontology renal sclerosis CSP2005:4003-0020 renal sclerosis Patau syndrome D1 Trisomy DOID:11665 ICD10CM:Q91.7 ICD9CM:758.1 MSH:C536305 NCI:C101223 OMIM mapping confirmed by DO. [LS]. Patau's syndrome SNOMEDCT_US_2015_03_01:156995003 SNOMEDCT_US_2015_03_01:157021007 SNOMEDCT_US_2015_03_01:205622008 SNOMEDCT_US_2015_03_01:21111006 SNOMEDCT_US_2015_03_01:254267009 SNOMEDCT_US_2015_03_01:268344000 SNOMEDCT_US_2015_03_01:268357008 UMLS_CUI:C0152095 disease_ontology trisomy 13 D1 Trisomy NCI2004_11_17:C36529 ICD9CM_2006:758.1 Patau's syndrome hypopigmentation of eyelid DOID:11668 Hypopigmentation of eyelid (disorder) Hypopigmentation of eyelid [Ambiguous] ICD10CM:H02.73 ICD9CM:374.53 SNOMEDCT_US_2015_03_01:193958004 SNOMEDCT_US_2015_03_01:68210006 UMLS_CUI:C0155212 disease_ontology Hypopigmentation of eyelid [Ambiguous] SNOMEDCT_2005_07_31:193958004 Hypopigmentation of eyelid (disorder) SNOMEDCT_2005_07_31:68210006 hypertrichosis of eyelid DOID:11669 ICD10CM:H02.86 ICD9CM:374.54 SNOMEDCT_US_2015_03_01:79830009 UMLS_CUI:C0155213 disease_ontology hypertrichosis of eyelid (disorder) SNOMEDCT_2005_07_31:79830009 hypertrichosis of eyelid (disorder) hypotrichosis of eyelid DOID:11671 Hypotrichosis of eyelid (disorder) Hypotrichosis of eyelid [Ambiguous] ICD10CM:H02.72 ICD9CM:374.55 SNOMEDCT_US_2015_03_01:193959007 SNOMEDCT_US_2015_03_01:70738004 UMLS_CUI:C0155214 disease_ontology Hypotrichosis of eyelid [Ambiguous] SNOMEDCT_2005_07_31:193959007 Hypotrichosis of eyelid (disorder) SNOMEDCT_2005_07_31:70738004 onchocerciasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. DOID:11678 ICD10CM:B73 ICD9CM:125.3 Infection by Onchocerca volvulus (disorder) MSH:D009855 NCI:C34861 Onchocerca volvulus infection SNOMEDCT_US_2015_03_01:38539003 UMLS_CUI:C0029001 disease_ontology volvulosis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Infection by Onchocerca volvulus (disorder) SNOMEDCT_2005_07_31:38539003 MTHICD9_2006:125.3 Onchocerca volvulus infection CSP2005:2214-3590 volvulosis familial hyperlipidemia DOID:1168 DOID:3147 ICD10CM:E78.5 MSH:D006949 MSH:D006951 NCI:C34707 NCI:C34709 SNOMEDCT_US_2015_03_01:154739000 SNOMEDCT_US_2015_03_01:154743001 SNOMEDCT_US_2015_03_01:190782002 SNOMEDCT_US_2015_03_01:267499005 SNOMEDCT_US_2015_03_01:3744001 SNOMEDCT_US_2015_03_01:55822004 UMLS_CUI:C0020473 UMLS_CUI:C0020476 disease_ontology familial hyperlipoproteinemia hyperlipemia hyperlipidaemia CSP2005:1744-2444 hyperlipemia SNOMEDCT_2005_07_31:154739000 hyperlipidaemia ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. DOID:11680 Ocular Onchocerciasis Ocular onchocerciasis (disorder) disease_ontology river blindness true Ocular onchocerciasis (disorder) SNOMEDCT_2005_07_31:240842000 NCI2004_11_17:C34862 Ocular Onchocerciasis CSP2005:2214-3590 river blindness A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. url:http://en.wikipedia.org/wiki/Onchocerciasis glaucoma associated with systemic syndromes DOID:11683 Glaucoma associated with systemic syndromes (disorder) disease_ontology true Glaucoma associated with systemic syndromes (disorder) SNOMEDCT_2005_07_31:53667005 melanoacanthoma DOID:11684 Melanoacanthoma (disorder) NCI:C27548 SNOMEDCT_US_2015_03_01:201096007 SNOMEDCT_US_2015_03_01:394727000 UMLS_CUI:C1321683 disease_ontology Melanoacanthoma (disorder) SNOMEDCT_2005_07_31:394727000 inflamed seborrheic keratosis DOID:11685 ICD10CM:L82.0 ICD9CM:702.11 SNOMEDCT_US_2015_03_01:442348004 UMLS_CUI:C0376117 disease_ontology acute apical periodontitis DOID:11693 ICD10CM:K04.4 ICD9CM:522.4 SNOMEDCT_US_2015_03_01:109605000 SNOMEDCT_US_2015_03_01:196338001 SNOMEDCT_US_2015_03_01:88071000 UMLS_CUI:C0155934 acute apical periodontitis of pulpal origin acute apical periodontitis of pulpal origin (disorder) disease_ontology SNOMEDCT_2005_07_31:88071000 acute apical periodontitis of pulpal origin (disorder) ICD9CM_2006:522.4 acute apical periodontitis of pulpal origin portal vein thrombosis A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. DOID:11695 ICD10CM:I81 ICD9CM:452 NCI:C78565 SNOMEDCT_US_2015_03_01:155455003 SNOMEDCT_US_2015_03_01:17920008 UMLS_CUI:C0155773 disease_ontology A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis chronic hypomanic disorder DOID:11696 chronic hypomanic personality disorder disease_ontology true ICD9CM_2006:301.11 chronic hypomanic personality disorder intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. DOID:11699 Tuberculosis of intrathoracic lymph nodes (disorder) Tuberculosis of intrathoracic lymph nodes NOS (disorder) Tuberculosis of intrathoracic lymph nodes, unspecified examination disease_ontology true A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. url:http://ep.bmjjournals.com/cgi/reprint/91/1/ep1 SNOMEDCT_2005_07_31:78436002 Tuberculosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:186187009 Tuberculosis of intrathoracic lymph nodes NOS (disorder) ICD9CM_2006:012.10 Tuberculosis of intrathoracic lymph nodes, unspecified examination heart cancer A cardiovascular cancer located_in the heart. Cardiac tumor DOID:117 DOID:9918 ICD10CM:C38.0 ICD9CM:164.1 MSH:D006338 NCI:C3081 NCI:C3548 SNOMEDCT_US_2015_03_01:126730001 SNOMEDCT_US_2015_03_01:154555009 SNOMEDCT_US_2015_03_01:187886009 SNOMEDCT_US_2015_03_01:269615000 SNOMEDCT_US_2015_03_01:363435002 SNOMEDCT_US_2015_03_01:387842002 SNOMEDCT_US_2015_03_01:93825008 Tumour of heart UMLS_CUI:C0018809 UMLS_CUI:C0153500 disease_ontology malignant Cardiac tumor malignant neoplasm of heart Cardiac tumor NCI2004_11_17:C3081 NCI2004_11_17:C3548 malignant Cardiac tumor A cardiovascular cancer located_in the heart. url:http://en.wikipedia.org/wiki/Heart_cancer SNOMEDCT_2005_07_31:126730001 Tumour of heart selective IgA deficiency disease A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. DOID:11701 Immunoglobulin A deficiency (disorder) MSH:D017098 SNOMEDCT_US_2015_03_01:29260007 Selective IgA Immunodeficiency Selective IgA immunodeficiency Selective immunoglobulin A deficiency (disorder) UMLS_CUI:C0162538 disease_ontology ICD9CM_2006:279.01 Selective IgA immunodeficiency SNOMEDCT_2005_07_31:190979003 Selective immunoglobulin A deficiency (disorder) Immunoglobulin A deficiency (disorder) SNOMEDCT_2005_07_31:29260007 A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency NCI2004_11_17:C26964 Selective IgA Immunodeficiency dysgammaglobulinemia A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. DOID:11702 Dysgammaglobulinemia (disorder) Dysgammaglobulinemia (finding) MSH:D004406 SNOMEDCT_US_2015_03_01:123782009 SNOMEDCT_US_2015_03_01:127389001 UMLS_CUI:C0013374 disease_ontology Dysgammaglobulinemia (disorder) SNOMEDCT_2005_07_31:123782009 A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia Dysgammaglobulinemia (finding) SNOMEDCT_2005_07_31:127389001 impaired renal function disease DOID:11705 ICD9CM:588.8 ICD9CM:588.89 UMLS_CUI:C0029791 disease_ontology hyperlipoproteinemia type V DOID:1171 Fredrickson type V lipaemia MSH:D006954 NCI:C35645 OMIM mapping confirmed by DO. [SN]. OMIM:144650 SNOMEDCT_US_2015_03_01:190781009 SNOMEDCT_US_2015_03_01:34349009 UMLS_CUI:C0020481 disease_ontology familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia (disorder) CSP2005:1849-4520 familial hyperlipoproteinemia type V Fredrickson type V lipaemia SNOMEDCT_2005_07_31:190781009 SNOMEDCT_2005_07_31:34349009 familial type 5 hyperlipoproteinemia (disorder) Pregnancy in Diabetics DOID:11711 Diabetes in Pregnancy Diabetes mellitus, antepartum disease_ontology pregnancy diabetes true Diabetes mellitus, antepartum ICD9CM_2006:648.03 CSP2005:0862-6650 pregnancy diabetes Diabetes in Pregnancy NCI2004_11_17:C34942 lipoatrophic diabetes A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. DOID:11712 MSH:D003923 NCI:C34537 SNOMEDCT_US_2015_03_01:127012008 SNOMEDCT_US_2015_03_01:408543001 SNOMEDCT_US_2015_03_01:71325002 UMLS_CUI:C0011859 disease_ontology A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes diabetic angiopathy DOID:11713 Diabetic vascular disorder MSH:D003925 NCI:C35610 UMLS_CUI:C0011875 disease_ontology Diabetic vascular disorder NCI2004_11_17:C35610 gestational diabetes DOID:11714 EFO:0004593 GDM Gestational diabetes mellitus ICD10CM:O24.4 MSH:D016640 Maternal gestational diabetes mellitus NCI:C34942 SNOMEDCT_US_2015_03_01:11687002 SNOMEDCT_US_2015_03_01:199232003 SNOMEDCT_US_2015_03_01:237629002 SNOMEDCT_US_2015_03_01:359964007 SNOMEDCT_US_2015_03_01:393568003 UMLS_CUI:C0085207 disease_ontology Gestational diabetes mellitus SNOMEDCT_2005_07_31:393568003 Maternal gestational diabetes mellitus SNOMEDCT_2005_07_31:11687002 Maternal gestational diabetes mellitus SNOMEDCT_2005_07_31:359964007 Gestational diabetes mellitus SNOMEDCT_2005_07_31:237629002 CSP2005:0862-6650 GDM Gestational diabetes mellitus SNOMEDCT_2005_07_31:199232003 prediabetes syndrome DOID:11716 ICD10CM:R73.09 MSH:D011236 Prediabetes SNOMEDCT_US_2015_03_01:15777000 SNOMEDCT_US_2015_03_01:9414007 UMLS_CUI:C0362046 disease_ontology prediabetic state CSP2005:0862-7400 prediabetic state Prediabetes SNOMEDCT_2005_07_31:9414007 Prediabetes SNOMEDCT_2005_07_31:15777000 neonatal diabetes mellitus DOID:11717 ICD10CM:P70.2 ICD9CM:775.1 NCI:C99248 SNOMEDCT_US_2015_03_01:49817004 UMLS_CUI:C0158981 diabetes mellitus syndrome in newborn infant disease_ontology antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. DOID:11718 ICD9CM:305.8 UMLS_CUI:C0154540 disease_ontology A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Antidepressant oculopharyngeal muscular dystrophy DOID:11719 ICD10CM:G71.0 MSH:D039141 Muscular dystrophy, oculopharyngeal NCI:C84942 OMIM mapping confirmed by DO. [SN]. OMIM:164300 Oculopharyngeal muscular dystrophy (disorder) SNOMEDCT_US_2015_03_01:77097004 UMLS_CUI:C0270952 disease_ontology MTHICD9_2006:359.1 Muscular dystrophy, oculopharyngeal Oculopharyngeal muscular dystrophy (disorder) SNOMEDCT_2005_07_31:77097004 hyperlipoproteinemia type IV DOID:1172 Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia (disorder) Fredrickson type IV lipidaemia ICD10CM:E78.1 ICD9CM:272.1 MSH:D006953 NCI:C34711 OMIM mapping confirmed by DO. [SN]. OMIM:144600 SNOMEDCT_US_2015_03_01:129589009 SNOMEDCT_US_2015_03_01:154741004 SNOMEDCT_US_2015_03_01:190779007 SNOMEDCT_US_2015_03_01:238085009 SNOMEDCT_US_2015_03_01:267433009 SNOMEDCT_US_2015_03_01:34528009 UMLS_CUI:C0020480 VLDL hyperlipoproteinemia disease_ontology Endogenous hyperlipidaemia SNOMEDCT_2005_07_31:129589009 Fredrickson type IV Lipidemia NCI2004_11_17:C34711 Fredrickson type IV hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:238085009 MTHICD9_2006:272.1 VLDL hyperlipoproteinemia Fredrickson type IV lipidaemia SNOMEDCT_2005_07_31:190779007 distal muscular dystrophy DOID:11720 ICD10CM:G71.0 MSH:D049310 Miyoshi muscular dystrophy NCI:C84675 OMIM:160300 OMIM:160500 OMIM:254130 OMIM:606768 OMIM:607569 OMIM:610099 OMIM:613318 OMIM:613319 OMIM:614065 OMIM:614321 ORDO:399086 ORDO:399096 ORDO:5448 ORDO:59135 ORDO:63273 SNOMEDCT_US_2015_03_01:58795000 UMLS_CUI:C0751336 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology distal myopathy glycogen storage disease VII DOID:11721 Glycogen storage disease, type VII (disorder) ICD10CM:E74.09 MSH:D006014 Muscle phosphofructokinase deficiency (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:232800 SNOMEDCT_US_2015_03_01:234406005 SNOMEDCT_US_2015_03_01:89597008 UMLS_CUI:C0017926 disease_ontology glycogen storage disease type VII phosphofructokinase myopathy Glycogen storage disease, type VII (disorder) SNOMEDCT_2005_07_31:89597008 Muscle phosphofructokinase deficiency (disorder) SNOMEDCT_2005_07_31:234406005 CSP2005:1849-4121 phosphofructokinase myopathy myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. DOID:11722 Dystrophia myotonica ICD10CM:G71.11 MSH:D009223 OMIM mapping confirmed by DO. [SN]. OMIM:160900 SNOMEDCT_US_2015_03_01:155096007 SNOMEDCT_US_2015_03_01:267713009 SNOMEDCT_US_2015_03_01:77956009 Steinert disease UMLS_CUI:C0027126 congenital myotonic dystrophy disease_ontology myotonic dystrophy of Steinert Dystrophia myotonica SNOMEDCT_2005_07_31:267713009 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/160900 url:http://www.genome.gov/25521207 url:http://www.ncbi.nlm.nih.gov/books/NBK1165/ Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. DOID:11723 MSH:D020388 Muscular dystrophy, Duchenne NCI:C75482 OMIM mapping confirmed by DO. [SN]. OMIM:310200 SNOMEDCT_US_2015_03_01:129619006 SNOMEDCT_US_2015_03_01:155095006 SNOMEDCT_US_2015_03_01:267712004 SNOMEDCT_US_2015_03_01:387732009 SNOMEDCT_US_2015_03_01:76670001 UMLS_CUI:C0013264 disease_ontology MTHICD9_2006:359.1 Muscular dystrophy, Duchenne A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy url:http://omim.org/entry/300377 url:http://www.genome.gov/19518854 limb-girdle muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. DOID:11724 Erb's muscular dystrophy ICD10CM:G71.0 Leyden-Mbius muscular dystrophy MSH:D049288 NCI:C84828 OMIM:159000 OMIM:159001 OMIM:253600 OMIM:253601 OMIM:253700 OMIM:254110 OMIM:601287 OMIM:601954 OMIM:603511 OMIM:604286 OMIM:607155 OMIM:607801 OMIM:608099 OMIM:608423 OMIM:608807 OMIM:609115 OMIM:609308 OMIM:611307 OMIM:611588 OMIM:613157 OMIM:613158 OMIM:613530 OMIM:613723 OMIM:613818 OMIM:615325 OMIM:615352 OMIM:615356 ORDO:263 SNOMEDCT_US_2015_03_01:56096001 SNOMEDCT_US_2015_03_01:93153005 UMLS_CUI:C0686353 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology limb girdle muscular dystrophy CSP2005:1849-6662 limb girdle muscular dystrophy Leyden-Mbius muscular dystrophy SNOMEDCT_2005_07_31:93153005 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. url:http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy url:http://www.ncbi.nlm.nih.gov/books/NBK1408/ Cornelia de Lange syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. Brachmann de Lange syndrome DOID:11725 De Lange syndrome ICD10CM:Q87.1 MSH:D003635 NCI:C75016 OMIM:122470 OMIM:300590 OMIM:300882 OMIM:610759 OMIM:614701 ORDO:199 SNOMEDCT_US_2015_03_01:40354009 UMLS_CUI:C0270972 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. url:http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome url:http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome url:http://www.omim.org/entry/122470 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract Brachmann de Lange syndrome CSP2005:2403-8925 Emery-Dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. DOID:11726 EDMD MSH:D020389 NCI:C84685 OMIM:181350 OMIM:300696 OMIM:310300 OMIM:612998 OMIM:612999 OMIM:614302 ORDO:261 ORDO:98853 ORDO:98855 ORDO:98863 SNOMEDCT_US_2015_03_01:111508004 SNOMEDCT_US_2015_03_01:129620000 SNOMEDCT_US_2015_03_01:193233004 UMLS_CUI:C0410189 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. url:http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy facioscapulohumeral muscular dystrophy DOID:11727 ICD10CM:G71.0 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy MSH:D020391 Muscular dystrophy, Landouzy-Dejerine NCI:C84704 OMIM mapping confirmed by DO. [SN]. OMIM:158900 OMIM:158901 SNOMEDCT_US_2015_03_01:399091004 SNOMEDCT_US_2015_03_01:56096001 UMLS_CUI:C0238288 disease_ontology MTHICD9_2006:359.1 Muscular dystrophy, Landouzy-Dejerine CSP2005:1849-6662 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy SNOMEDCT_2005_07_31:399091004 Landouzy-Dejerine muscular dystrophy SNOMEDCT_2005_07_31:56096001 Lyme disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. Bannwarth syndrome (disorder) Bannworth's syndrome DOID:11729 DOID:12233 ICD10CM:A69.2 ICD10CM:A69.20 ICD9CM:088.81 Lyme borreliosis MSH:D008193 MSH:D020852 NCI:C45161 Neurological Lyme disease SNOMEDCT_US_2015_03_01:154376000 SNOMEDCT_US_2015_03_01:23502006 SNOMEDCT_US_2015_03_01:240672009 SNOMEDCT_US_2015_03_01:48982009 UMLS_CUI:C0024198 UMLS_CUI:C0752235 disease_ontology lyme neuroborreliosis neuroborreliosis Neurological Lyme disease SNOMEDCT_2005_07_31:240672009 Bannworth's syndrome SNOMEDCT_2005_07_31:23502006 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. url:http://www.cdc.gov/lyme/transmission/index.html Bannwarth syndrome (disorder) SNOMEDCT_2005_07_31:48982009 CSP2005:0368-3340 Lyme borreliosis polycystic liver disease (Congenital cystic liver disease) or (congenital hepatic cyst) Congenital cystic disease of liver Congenital cystic disease of liver (disorder) Congenital cystic liver disease (disorder) Congenital cystic liver disease NOS (disorder) DOID:1173 Fibrocystic disease of liver Fibrocystic liver disease disease_ontology true Fibrocystic disease of liver MTHICD9_2006:751.62 Congenital cystic liver disease (disorder) SNOMEDCT_2005_07_31:268214000 Congenital cystic disease of liver (disorder) SNOMEDCT_2005_07_31:72925005 Congenital cystic liver disease NOS (disorder) SNOMEDCT_2005_07_31:204786007 Congenital cystic disease of liver ICD9CM_2006:751.62 Fibrocystic liver disease SNOMEDCT_2005_07_31:204785006 (Congenital cystic liver disease) or (congenital hepatic cyst) SNOMEDCT_2005_07_31:204784005 Borrelia infectious disease Borreliosis (disorder) Borreliosis, NOS DOID:11730 borreliosis disease_ontology true Borreliosis (disorder) SNOMEDCT_2005_07_31:240668005 CSP2005:0368-3338 borreliosis Borreliosis, NOS SNOMEDCT_2005_07_31:46107006 syphilitic myocarditis DOID:11732 Syphilitic myocarditis (disorder) disease_ontology true SNOMEDCT_2005_07_31:4082005 Syphilitic myocarditis (disorder) syphilitic aortic aneurysm Aneurysm of aorta, specified as syphilitic DOID:11733 Syphilitic aneurysm of aorta (disorder) disease_ontology true Aneurysm of aorta, specified as syphilitic ICD9CM_2006:093.0 SNOMEDCT_2005_07_31:12232008 Syphilitic aneurysm of aorta (disorder) syphilitic pericarditis DOID:11734 Syphilitic pericarditis (disorder) disease_ontology true SNOMEDCT_2005_07_31:3589003 Syphilitic pericarditis (disorder) single manic episode in full remission DOID:11735 Manic disorder, single episode, in full remission Single manic episode in full remission (disorder) disease_ontology true ICD9CM_2006:296.06 Manic disorder, single episode, in full remission SNOMEDCT_2005_07_31:191588009 Single manic episode in full remission (disorder) odontoclasia DOID:11736 ICD9CM:521.05 Odontoclasia (disorder) SNOMEDCT_US_2015_03_01:196305005 UMLS_CUI:C0341004 disease_ontology Odontoclasia (disorder) SNOMEDCT_2005_07_31:196305005 Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. Chlamydial pneumonia (disorder) DOID:11741 Pneumonia due to Chlamydia disease_ontology true ICD9CM_2006:483.1 Pneumonia due to Chlamydia Chlamydial pneumonia (disorder) SNOMEDCT_2005_07_31:233609002 A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm url:http://www.merck.com/mmpe/sec19/ch279/ch279l.html parametrium malignant neoplasm DOID:11746 ICD10CM:C57.3 ICD9CM:183.4 SNOMEDCT_US_2015_03_01:188203006 SNOMEDCT_US_2015_03_01:448674007 SNOMEDCT_US_2015_03_01:93942003 UMLS_CUI:C0153581 disease_ontology uterine adnexa cancer DOID:11747 DOID:9596 ICD10CM:C57.4 ICD9CM:183 ICD9CM:183.9 SNOMEDCT_US_2015_03_01:154527005 SNOMEDCT_US_2015_03_01:188201008 SNOMEDCT_US_2015_03_01:188206003 SNOMEDCT_US_2015_03_01:190123001 SNOMEDCT_US_2015_03_01:269601002 SNOMEDCT_US_2015_03_01:428322007 SNOMEDCT_US_2015_03_01:94126000 UMLS_CUI:C0153577 UMLS_CUI:C0153584 disease_ontology round ligament malignant neoplasm DOID:11748 ICD10CM:C57.2 ICD9CM:183.5 SNOMEDCT_US_2015_03_01:188204000 SNOMEDCT_US_2015_03_01:93994001 UMLS_CUI:C0346867 disease_ontology malignant neoplasm of round ligament (disorder) malignant neoplasm of round ligament of uterus SNOMEDCT_2005_07_31:93994001 malignant neoplasm of round ligament of uterus SNOMEDCT_2005_07_31:188204000 malignant neoplasm of round ligament (disorder) ICD9CM_2006:183.5 malignant neoplasm of round ligament of uterus Bordetella parapertussis whooping cough A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . DOID:11750 ICD10CM:A37.1 ICD9CM:033.1 SNOMEDCT_US_2015_03_01:77116006 UMLS_CUI:C0275742 disease_ontology A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . url:http://en.wikipedia.org/wiki/Pertussis acute endophthalmitis DOID:11752 ICD9CM:360.01 SNOMEDCT_US_2015_03_01:1493002 SNOMEDCT_US_2015_03_01:193268004 UMLS_CUI:C0154773 acute endophthalmitis (disorder) disease_ontology SNOMEDCT_2005_07_31:1493002 acute endophthalmitis (disorder) biliary calculus with acute cholecystitis DOID:11753 disease_ontology true siderosis of eye DOID:11754 ICD10CM:H44.32 ICD9CM:360.23 SNOMEDCT_US_2015_03_01:25277000 Siderosis of eye (disorder) Siderosis of globe UMLS_CUI:C0271001 disease_ontology ICD9CM_2006:360.23 Siderosis of globe SNOMEDCT_2005_07_31:25277000 Siderosis of eye (disorder) choledocholithiasis DOID:11755 MSH:D042883 SNOMEDCT_US_2015_03_01:197376000 SNOMEDCT_US_2015_03_01:197397004 SNOMEDCT_US_2015_03_01:49910001 UMLS_CUI:C0701818 disease_ontology calculus of bile duct with acute cholecystitis DOID:11756 DOID:13666 bile duct calculus with acute cholecystitis and obstruction bile duct calculus with acute cholecystitis and obstruction (disorder) bile duct calculus with acute cholecystitis and obstruction NOS (disorder) calculus of bile duct with acute cholecystitis with obstruction (disorder) calculus of bile duct with acute cholecystitis, with obstruction disease_ontology true SNOMEDCT_2005_07_31:197391003 bile duct calculus with acute cholecystitis and obstruction (disorder) SNOMEDCT_2005_07_31:43479009 calculus of bile duct with acute cholecystitis with obstruction (disorder) ICD9CM_2006:574.31 calculus of bile duct with acute cholecystitis, with obstruction SNOMEDCT_2005_07_31:197392005 bile duct calculus with acute cholecystitis and obstruction NOS (disorder) iron deficiency anemia DOID:11758 ICD9CM:280.8 SNOMEDCT_US_2015_03_01:191129007 SNOMEDCT_US_2015_03_01:191131003 SNOMEDCT_US_2015_03_01:267514001 UMLS_CUI:C0029810 disease_ontology hypochromic anemia ANEMIA HYPOCHROMIC DOID:11759 ICD10CM:D50 MSH:D000747 NCI:C34380 SNOMEDCT_US_2015_03_01:44452003 UMLS_CUI:C0002884 disease_ontology ANEMIA HYPOCHROMIC MTH:NOCODE bronchial disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. Bronchospasm DOID:1175 DOID:1176 DOID:12322 MSH:D001982 SNOMEDCT_US_2015_03_01:41427001 UMLS_CUI:C0006261 bronchial disorder disease_ontology CSP2005:2596-0903 bronchial disorder A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. url:http://www.ncbi.nlm.nih.gov/pubmed/11685087 Bronchospasm NCI2004_11_17:C34439 SNOMEDCT_2005_07_31:140179000 SNOMEDCT_2005_07_31:196175000 SNOMEDCT_2005_07_31:269012003 Kohler's disease An osteochondrosis that results_in death and collapse located_in navicular bone of foot. DOID:11760 ICD9CM:732.5 Juvenile osteochondrosis of foot Kohler disease SNOMEDCT_US_2015_03_01:203392007 SNOMEDCT_US_2015_03_01:203393002 SNOMEDCT_US_2015_03_01:203397001 SNOMEDCT_US_2015_03_01:32491009 UMLS_CUI:C0158444 disease_ontology An osteochondrosis that results_in death and collapse located_in navicular bone of foot. url:http://en.wikipedia.org/wiki/K%C3%B6hler_disease url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/k/kohlers_disease.aspx ICD9CM_2006:732.5 Juvenile osteochondrosis of foot blind hypotensive eye DOID:11766 ICD9CM:360.41 SNOMEDCT_US_2015_03_01:193291000 SNOMEDCT_US_2015_03_01:23360000 SNOMEDCT_US_2015_03_01:4229009 UMLS_CUI:C0154788 disease_ontology hypersecretion of testicular hormones DOID:11770 disease_ontology testicular hyperfunction testicular hyperfunction (disorder) true SNOMEDCT_2005_07_31:29206004 testicular hyperfunction (disorder) ICD9CM_2006:257.0 testicular hyperfunction spontaneous ocular nystagmus DOID:11771 ICD10CM:H55.03 ICD9CM:379.53 MSH:D009759 Ocular nystagmus SNOMEDCT_US_2015_03_01:246784009 SNOMEDCT_US_2015_03_01:39771000 SNOMEDCT_US_2015_03_01:45339001 Searching eye movements UMLS_CUI:C0271384 disease_ontology visual deprivation nystagmus visual deprivation nystagmus (disorder) Ocular nystagmus SNOMEDCT_2005_07_31:39771000 SNOMEDCT_2005_07_31:246784009 Searching eye movements SNOMEDCT_2005_07_31:45339001 visual deprivation nystagmus (disorder) ICD9CM_2006:379.53 visual deprivation nystagmus leukocoria DOID:11772 ICD10CM:H44.53 ICD9CM:360.44 Leucocoria Leukocoria (disorder) SNOMEDCT_US_2015_03_01:1361009 SNOMEDCT_US_2015_03_01:193288000 UMLS_CUI:C0152458 disease_ontology ICD9CM_2006:360.44 Leucocoria Leukocoria (disorder) SNOMEDCT_2005_07_31:1361009 hereditary trophedema DOID:11775 Hereditary edema of legs Hereditary edema of legs NOS (disorder) Hereditary edema of legs [dup] (disorder) Hereditary trophedema (disorder) Hereditary trophoedeme disease_ontology true Hereditary trophedema (disorder) SNOMEDCT_2005_07_31:205543002 Hereditary edema of legs NOS (disorder) SNOMEDCT_2005_07_31:205546005 Hereditary edema of legs [dup] (disorder) SNOMEDCT_2005_07_31:205542007 Hereditary trophoedeme SNOMEDCT_2005_07_31:75127007 Hereditary edema of legs ICD9CM_2006:757.0 blind hypertensive eye Blind hypertensive eye (disorder) DOID:11776 ICD9CM:360.42 SNOMEDCT_US_2015_03_01:193286001 SNOMEDCT_US_2015_03_01:264008 UMLS_CUI:C0154789 disease_ontology Blind hypertensive eye (disorder) SNOMEDCT_2005_07_31:264008 regular astigmatism DOID:11781 ICD10CM:H52.22 ICD9CM:367.21 Regular astigmatism (disorder) SNOMEDCT_US_2015_03_01:68905002 UMLS_CUI:C0152193 disease_ontology Regular astigmatism (disorder) SNOMEDCT_2005_07_31:68905002 astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. CSP:1116-1831 DOID:11782 EFO:0004222 HP:0000483 ICD10CM:H52.2 ICD10CM:H52.20 ICD9CM:367.2 ICD9CM:367.20 MSH:D001251 OMIM mapping confirmed by DO. [SN]. OMIM:603047 SNOMEDCT_US_2015_03_01:155134009 SNOMEDCT_US_2015_03_01:193626006 SNOMEDCT_US_2015_03_01:193627002 SNOMEDCT_US_2015_03_01:82649003 UMLS_CUI:C0004106 disease_ontology A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. url:http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 necrosis of ear ossicle DOID:11783 ICD9CM:385.24 UMLS_CUI:C0155488 disease_ontology partial loss or necrosis of ear ossicles splenic sequestration DOID:11786 ICD9CM:289.52 UMLS_CUI:C1260402 disease_ontology chronic congestive splenomegaly DOID:11787 ICD10CM:D73.2 ICD9CM:289.51 SNOMEDCT_US_2015_03_01:191382009 UMLS_CUI:C0398661 chronic congestive splenomegaly (disorder) disease_ontology SNOMEDCT_2005_07_31:191382009 chronic congestive splenomegaly (disorder) phthisical cornea DOID:11793 ICD9CM:371.05 Phthisical cornea (disorder) SNOMEDCT_US_2015_03_01:193801004 SNOMEDCT_US_2015_03_01:28143002 UMLS_CUI:C0155102 disease_ontology Phthisical cornea (disorder) SNOMEDCT_2005_07_31:28143002 chronic laryngitis A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. DOID:11797 ICD10CM:J37.0 ICD9CM:476.0 NCI:C26975 SNOMEDCT_US_2015_03_01:155535001 SNOMEDCT_US_2015_03_01:195815004 SNOMEDCT_US_2015_03_01:195816003 SNOMEDCT_US_2015_03_01:29951006 UMLS_CUI:C0155836 disease_ontology A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. url:http://en.wikipedia.org/wiki/Laryngitis url:http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. DOID:118 MSH:D010490 NCI:C3319 SNOMEDCT_US_2015_03_01:373945007 SNOMEDCT_US_2015_03_01:70370001 UMLS_CUI:C0031039 disease_ontology A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. url:http://en.wikipedia.org/wiki/Pericardial_effusion protein-energy malnutrition DOID:11801 ICD10CM:E46 ICD9CM:263.9 MSH:D011502 NCI:C34952 SNOMEDCT_US_2015_03_01:190608007 SNOMEDCT_US_2015_03_01:238107002 SNOMEDCT_US_2015_03_01:267411007 SNOMEDCT_US_2015_03_01:72608005 UMLS_CUI:C0033677 disease_ontology protein deficiency DOID:11802 disease_ontology protein deficiency true CSP2005:2116-8149 protein deficiency macrodactylia of fingers DOID:11806 Macrodactylia Macrodactylia (fingers) Macrodactylia of fingers (disorder) disease_ontology true ICD9CM_2006:755.57 Macrodactylia (fingers) MTHICD9_2006:755.57 Macrodactylia Macrodactylia of fingers (disorder) SNOMEDCT_2005_07_31:69381005 bladder neck cancer DOID:11809 ICD10CM:C67.5 ICD9CM:188.5 SNOMEDCT_US_2015_03_01:188244007 SNOMEDCT_US_2015_03_01:94124002 UMLS_CUI:C0153613 disease_ontology malignant neoplasm of urinary bladder neck malignant tumor of bladder neck (disorder) SNOMEDCT_2005_07_31:188244007 malignant tumor of bladder neck (disorder) SNOMEDCT_2005_07_31:94124002 malignant neoplasm of urinary bladder neck metastatic neoplasm to the bladder DOID:11810 disease_ontology metastatic tumor to the urinary bladder secondary malignant neoplasm of bladder (disorder) true SNOMEDCT_2005_07_31:94186002 secondary malignant neoplasm of bladder (disorder) NCI2004_11_17:C7650 metastatic tumor to the urinary bladder urinary bladder posterior wall cancer DOID:11811 ICD10CM:C67.4 ICD9CM:188.4 SNOMEDCT_US_2015_03_01:188243001 SNOMEDCT_US_2015_03_01:93972009 UMLS_CUI:C0153612 disease_ontology malignant neoplasm of posterior wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:188243001 malignant neoplasm of posterior wall of urinary bladder (disorder) bladder sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. DOID:11812 NCI:C4669 SNOMEDCT_US_2015_03_01:278046008 UMLS_CUI:C0349666 disease_ontology sarcoma of bladder (disorder) sarcoma of the urinary bladder A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. url:http://emedicine.medscape.com/article/438262-overview SNOMEDCT_2005_07_31:278046008 sarcoma of bladder (disorder) NCI2004_11_17:C4669 sarcoma of the urinary bladder bladder trigone cancer DOID:11813 ICD10CM:C67.0 ICD9CM:188.0 SNOMEDCT_US_2015_03_01:188239000 SNOMEDCT_US_2015_03_01:254931006 SNOMEDCT_US_2015_03_01:94109006 UMLS_CUI:C0496826 disease_ontology malignant neoplasm of trigone of urinary bladder malignant tumor of trigone of bladder (disorder) malignant tumor of trigone of urinary bladder (disorder) SNOMEDCT_2005_07_31:188239000 malignant tumor of trigone of urinary bladder (disorder) SNOMEDCT_2005_07_31:254931006 malignant tumor of trigone of bladder (disorder) ICD9CM_2006:188.0 malignant neoplasm of trigone of urinary bladder SNOMEDCT_2005_07_31:94109006 malignant neoplasm of trigone of urinary bladder urinary bladder anterior wall cancer DOID:11814 ICD10CM:C67.3 ICD9CM:188.3 SNOMEDCT_US_2015_03_01:188242006 SNOMEDCT_US_2015_03_01:93675008 UMLS_CUI:C0153611 disease_ontology malignant neoplasm of anterior wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:188242006 malignant neoplasm of anterior wall of urinary bladder (disorder) recurrent malignant bladder neoplasm DOID:11815 disease_ontology true vitreous syneresis DOID:11816 ICD10CM:H43.81 ICD9CM:379.21 SNOMEDCT_US_2015_03_01:247090008 SNOMEDCT_US_2015_03_01:60189009 UMLS_CUI:C0155366 Vitreous degeneration Vitreous degeneration (disorder) Vitreous syneresis (finding) disease_ontology SNOMEDCT_2005_07_31:60189009 Vitreous degeneration (disorder) ICD9CM_2006:379.21 Vitreous degeneration SNOMEDCT_2005_07_31:247090008 Vitreous syneresis (finding) urachus cancer DOID:11817 ICD10CM:C67.7 ICD9CM:188.7 SNOMEDCT_US_2015_03_01:363456000 SNOMEDCT_US_2015_03_01:94120006 UMLS_CUI:C0153615 disease_ontology malignant tumor of urachus (disorder) SNOMEDCT_2005_07_31:363456000 malignant tumor of urachus (disorder) ureteric orifice cancer DOID:11818 ICD10CM:C67.6 ICD9CM:188.6 NCI:C12337 Orifice of the Ureter SNOMEDCT_US_2015_03_01:188245008 SNOMEDCT_US_2015_03_01:94122003 UMLS_CUI:C0153614 disease_ontology malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice (disorder) SNOMEDCT_2005_07_31:188245008 malignant tumor of ureteric orifice (disorder) NCI2004_11_17:C12337 Orifice of the Ureter SNOMEDCT_2005_07_31:94122003 malignant neoplasm of ureteric orifice of urinary bladder ureter cancer A urinary system cancer that is located_in the ureter. DOID:11819 ICD10CM:C66 ICD9CM:189.2 MSH:D014516 NCI:C7543 OMIM mapping confirmed by DO. [SN]. OMIM:191600 SNOMEDCT_US_2015_03_01:154543003 SNOMEDCT_US_2015_03_01:363458004 SNOMEDCT_US_2015_03_01:94121005 UMLS_CUI:C0153619 disease_ontology malignant tumour of ureter malignant ureteral tumor A urinary system cancer that is located_in the ureter. url:http://en.wikipedia.org/wiki/Ureter_cancer SNOMEDCT_2005_07_31:154543003 malignant tumour of ureter NCI2004_11_17:C7543 malignant ureteral tumor bladder dome cancer DOID:11820 ICD10CM:C67.1 ICD9CM:188.1 NCI:C12332 SNOMEDCT_US_2015_03_01:188240003 SNOMEDCT_US_2015_03_01:93678005 Superior Surface of bladder UMLS_CUI:C0496827 disease_ontology malignant neoplasm of apex of urinary bladder malignant neoplasm of dome of urinary bladder malignant tumor of vault of bladder (disorder) NCI2004_11_17:C12332 Superior Surface of bladder SNOMEDCT_2005_07_31:93678005 malignant neoplasm of apex of urinary bladder SNOMEDCT_2005_07_31:188240003 malignant tumor of vault of bladder (disorder) ICD9CM_2006:188.1 malignant neoplasm of dome of urinary bladder bladder lymphoma DOID:11821 Lymphoma of the urinary bladder NCI:C6164 UMLS_CUI:C1332561 disease_ontology Lymphoma of the urinary bladder NCI2004_11_17:C6164 hepatorenal syndrome DOID:11823 Hepatorenal syndrome Hepatorenal syndrome (disorder) ICD10CM:K76.7 ICD9CM:572.4 MSH:D006530 NCI:C113400 SNOMEDCT_US_2015_03_01:51292008 UMLS_CUI:C0019212 disease_ontology Hepatorenal syndrome (disorder) SNOMEDCT_2005_07_31:51292008 Hepatorenal syndrome ICD9CM_2006:572.4 multicentric reticulohistiocytosis A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. DOID:11824 ICD10CM:E78.81 Lipoid dermatoarthritis (disorder) Multicentric reticulohistiocytosis NCI:C27896 ORDO:139436 SNOMEDCT_US_2015_03_01:190801003 SNOMEDCT_US_2015_03_01:84241008 UMLS_CUI:C0311284 disease_ontology Lipoid dermatoarthritis (disorder) SNOMEDCT_2005_07_31:84241008 Multicentric reticulohistiocytosis SNOMEDCT_2005_07_31:190801003 A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis url:http://www.ncbi.nlm.nih.gov/pubmed/23130232 visual cortex disorder due to vascular disorder DOID:11828 disease_ontology true degenerative myopia DOID:11829 EFO:0004207 ICD10CM:H44.2 ICD9CM:360.21 MSH:D047728 Pathological myopia SNOMEDCT_US_2015_03_01:193276002 SNOMEDCT_US_2015_03_01:193278001 SNOMEDCT_US_2015_03_01:193625005 SNOMEDCT_US_2015_03_01:32022003 UMLS_CUI:C0154778 degenerative progressive high myopia (disorder) disease_ontology malignant myopia (disorder) pathological myopia progressive high (degenerative) myopia progressive high myopia MTHICD9_2006:360.21 progressive high myopia ICD9CM_2006:360.21 progressive high (degenerative) myopia SNOMEDCT_2005_07_31:32022003 degenerative progressive high myopia (disorder) Pathological myopia SNOMEDCT_2005_07_31:193625005 SNOMEDCT_2005_07_31:193276002 malignant myopia (disorder) nephrotic syndrome with lesion of membranoproliferative glomerulonephritis DOID:1183 Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis disease_ontology true ICD9CM_2006:581.2 Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis myopia A refractive error characterized by the inability to see farther objects clearly. DOID:11830 EFO:0003927 ICD10CM:H52.1 ICD9CM:367.1 MSH:D009216 NCI:C102533 OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946 SNOMEDCT_US_2015_03_01:155133003 SNOMEDCT_US_2015_03_01:57190000 UMLS_CUI:C0027092 Xref MGI. disease_ontology near vision near-sightedness short-sightedness CSP2005:1116-2455 near vision A refractive error characterized by the inability to see farther objects clearly. url:http://en.wikipedia.org/wiki/Myopia url:http://ghr.nlm.nih.gov/glossary=myopia url:http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 MTHICD9_2006:367.1 near-sightedness cortical blindness Cortical blindness Cortical blindness (disorder) DOID:11831 ICD10CM:H47.61 ICD9CM:377.75 MSH:D019575 SNOMEDCT_US_2015_03_01:68574006 UMLS_CUI:C0155320 disease_ontology Cortical blindness (disorder) SNOMEDCT_2005_07_31:68574006 Cortical blindness ICD9CM_2006:377.75 visual epilepsy DOID:11832 MSH:D012640 NCI:C3980 SNOMEDCT_US_2015_03_01:39194005 UMLS_CUI:C0270824 disease_ontology epilepsy, visual MTHICD9_2006:345.5 epilepsy, visual clubfoot A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. Congenital equinovarus DOID:0001874 DOID:11836 Equinovarus deformity of foot (finding) ICD10CM:Q66.0 ICD10CM:Q66.89 ICD9CM:754.51 MSH:D003025 NCI:C84641 OMIM mapping confirmed by DO. [SN]. OMIM:119800 SNOMEDCT_US_2015_03_01:15169008 SNOMEDCT_US_2015_03_01:156985005 SNOMEDCT_US_2015_03_01:156987002 SNOMEDCT_US_2015_03_01:205089003 SNOMEDCT_US_2015_03_01:249808002 SNOMEDCT_US_2015_03_01:253957000 SNOMEDCT_US_2015_03_01:268340009 SNOMEDCT_US_2015_03_01:268341008 SNOMEDCT_US_2015_03_01:33163000 SNOMEDCT_US_2015_03_01:397932003 UMLS_CUI:C0009081 congenital clubfoot congenital talipes equinovarus disease_ontology A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. PMID:17610748 url:http://en.wikipedia.org/wiki/Club_foot Congenital equinovarus MTHICD9_2006:754.51 Equinovarus deformity of foot (finding) SNOMEDCT_2005_07_31:249808002 malignant neoplasm of scapula and long bones of upper limb DOID:11837 disease_ontology true penis sarcoma A sarcoma and malignant neoplasm of penis that is located_in the penis. DOID:11838 NCI:C7730 UMLS_CUI:C0238352 disease_ontology sarcoma of penis NCI2004_11_17:C7730 sarcoma of penis A sarcoma and malignant neoplasm of penis that is located_in the penis. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20penis&c=pc&ss= glans penis cancer DOID:11839 ICD10CM:C60.1 ICD9CM:187.2 SNOMEDCT_US_2015_03_01:363451005 SNOMEDCT_US_2015_03_01:93813005 UMLS_CUI:C0153599 disease_ontology malignant neoplasm of glans penis malignant tumor of glans penis (disorder) malignant tumour of glans penis SNOMEDCT_2005_07_31:363451005 malignant tumor of glans penis (disorder) SNOMEDCT_2005_07_31:93813005 malignant tumour of glans penis ICD9CM_2006:187.2 malignant neoplasm of glans penis nephrotic syndrome DOID:1184 ICD10CM:N04 ICD9CM:581 MSH:D009404 NCI:C34845 OMIM:256300 OMIM:256370 OMIM:600995 OMIM:610725 OMIM:614196 OMIM:614199 OMIM:615008 OMIM:615244 OMIM:615573 OMIM:615861 SNOMEDCT_US_2015_03_01:155851004 SNOMEDCT_US_2015_03_01:197611005 SNOMEDCT_US_2015_03_01:52254009 UMLS_CUI:C0027726 Xref MGI. disease_ontology finnish congenital nephrosis coronary artery vasospasm Coronary Vasospasm Coronary artery spasm (disorder) DOID:11840 MSH:D003329 NCI:C34515 SNOMEDCT_US_2015_03_01:23687008 UMLS_CUI:C0010073 disease_ontology Coronary Vasospasm NCI2004_11_17:C34515 Coronary artery spasm (disorder) SNOMEDCT_2005_07_31:23687008 coronary artery anomaly Congenital anomaly of coronary artery (disorder) Coronary artery abnormality (disorder) Coronary artery abnormality [Ambiguous] Coronary artery anomaly NOS (disorder) Coronary artery anomaly, congenital DOID:11843 ICD9CM:746.85 SNOMEDCT_US_2015_03_01:204373000 SNOMEDCT_US_2015_03_01:204380003 SNOMEDCT_US_2015_03_01:28574005 SNOMEDCT_US_2015_03_01:361215006 UMLS_CUI:C0158623 disease_ontology Congenital anomaly of coronary artery (disorder) SNOMEDCT_2005_07_31:28574005 Coronary artery abnormality (disorder) SNOMEDCT_2005_07_31:361215006 Coronary artery abnormality [Ambiguous] SNOMEDCT_2005_07_31:204373000 Coronary artery anomaly NOS (disorder) SNOMEDCT_2005_07_31:204380003 Coronary artery anomaly, congenital ICD9CM_2006:746.85 coronary thrombosis Coronary artery thrombosis (disorder) DOID:11847 ICD10CM:I21 ICD10CM:I22 MSH:D003328 SNOMEDCT_US_2015_03_01:155304006 SNOMEDCT_US_2015_03_01:194796000 SNOMEDCT_US_2015_03_01:266288001 SNOMEDCT_US_2015_03_01:398274000 SNOMEDCT_US_2015_03_01:66514008 UMLS_CUI:C0010072 disease_ontology Coronary artery thrombosis (disorder) SNOMEDCT_2005_07_31:66514008 degenerative changes of ciliary body Ciliary body degenerative changes (disorder) DOID:11849 degenerative changes of ciliary body (disorder) disease_ontology true SNOMEDCT_2005_07_31:40153005 degenerative changes of ciliary body (disorder) Ciliary body degenerative changes (disorder) SNOMEDCT_2005_07_31:193508003 transient refractive change DOID:11850 ICD9CM:367.81 SNOMEDCT_US_2015_03_01:81519008 Transient refractive change (disorder) UMLS_CUI:C0155000 disease_ontology SNOMEDCT_2005_07_31:81519008 Transient refractive change (disorder) indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. DOID:11851 ICD10CM:A30.0 ICD9CM:030.2 Indeterminate leprosy (disorder) Indeterminate leprosy [group I] SNOMEDCT_US_2015_03_01:14386001 UMLS_CUI:C0021192 Uncharacteristic leprosy disease_ontology Indeterminate leprosy (disorder) SNOMEDCT_2005_07_31:14386001 A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 MTHICD9_2006:030.2 Uncharacteristic leprosy ICD9CM_2006:030.2 Indeterminate leprosy [group I] aortic valve syphilitic endocarditis DOID:11852 Syphilitic endocarditis of aortic valve (disorder) disease_ontology true SNOMEDCT_2005_07_31:278480000 Syphilitic endocarditis of aortic valve (disorder) monocular exotropia DOID:11853 ICD10CM:H50.11 ICD9CM:378.11 MSH:D005099 SNOMEDCT_US_2015_03_01:194087008 SNOMEDCT_US_2015_03_01:5725006 UMLS_CUI:C0152206 disease_ontology monocular exotropia with A pattern DOID:11854 Monocular exotropia with A pattern (disorder) disease_ontology true Monocular exotropia with A pattern (disorder) SNOMEDCT_2005_07_31:45062007 intermittent monocular exotropia DOID:11855 Intermittent exotropia, monocular Intermittent monocular exotropia (disorder) Monocular intermittent exotropia (disorder) disease_ontology true Monocular intermittent exotropia (disorder) SNOMEDCT_2005_07_31:67028000 Intermittent monocular exotropia (disorder) SNOMEDCT_2005_07_31:194103006 ICD9CM_2006:378.23 Intermittent exotropia, monocular monocular exotropia with V pattern DOID:11856 Monocular exotropia with V pattern (disorder) disease_ontology true Monocular exotropia with V pattern (disorder) SNOMEDCT_2005_07_31:111529008 prolonged pregnancy DOID:11861 disease_ontology true late pregnancy DOID:11862 disease_ontology true peripheral focal chorioretinitis DOID:11864 Focal choroiditis and chorioretinitis, peripheral ICD9CM:363.04 SNOMEDCT_US_2015_03_01:56787009 UMLS_CUI:C0339394 disease_ontology peripheral focal choroiditis AND chorioretinitis (disorder) SNOMEDCT_2005_07_31:56787009 peripheral focal choroiditis AND chorioretinitis (disorder) Focal choroiditis and chorioretinitis, peripheral ICD9CM_2006:363.04 chronic erythremia DOID:11868 ICD9CM:207.1 SNOMEDCT_US_2015_03_01:188753004 SNOMEDCT_US_2015_03_01:190042004 SNOMEDCT_US_2015_03_01:269478004 SNOMEDCT_US_2015_03_01:48292007 SNOMEDCT_US_2015_03_01:92810002 UMLS_CUI:C0152272 disease_ontology tibial neuropathy DOID:1187 MSH:D020429 Posterior tibial neuropathy (disorder) SNOMEDCT_US_2015_03_01:35062009 SNOMEDCT_US_2015_03_01:359842002 SNOMEDCT_US_2015_03_01:399076001 SNOMEDCT_US_2015_03_01:399364006 Tibial neuropathy (disorder) Tibial neuropathy (disorder) [Ambiguous] UMLS_CUI:C0751932 disease_ontology Posterior tibial neuropathy (disorder) SNOMEDCT_2005_07_31:399364006 SNOMEDCT_2005_07_31:399076001 Tibial neuropathy (disorder) SNOMEDCT_2005_07_31:35062009 Tibial neuropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:359842002 Tibial neuropathy (disorder) Pick's disease DOID:11870 Dementia in Pick's disease (disorder) ICD10CM:G31.01 ICD9CM:331.11 LOBAR ATROPHY OF BRAIN MSH:D020774 NCI:C85008 OMIM mapping confirmed by DO. [SN]. OMIM:172700 PICK DISEASE OF BRAIN Pick disease SNOMEDCT_US_2015_03_01:13092008 SNOMEDCT_US_2015_03_01:154998003 SNOMEDCT_US_2015_03_01:267688001 UMLS_CUI:C0236642 disease_ontology Dementia in Pick's disease (disorder) SNOMEDCT_2005_07_31:192174003 macular keratitis DOID:11871 ICD10CM:H16.11 ICD9CM:370.22 Macular keratitis (disorder) Macular keratitis NOS (disorder) SNOMEDCT_US_2015_03_01:193769006 SNOMEDCT_US_2015_03_01:2853006 UMLS_CUI:C0155076 disease_ontology Macular keratitis (disorder) SNOMEDCT_2005_07_31:2853006 Macular keratitis NOS (disorder) SNOMEDCT_2005_07_31:193769006 Staphylococcus aureus septicemia DOID:11872 Septicemia due to Staphylococcus aureus (disorder) disease_ontology true SNOMEDCT_2005_07_31:186385009 Septicemia due to Staphylococcus aureus (disorder) staphylococcal septicemia DOID:11873 disease_ontology true abnormal threshold of rods DOID:11874 ICD10CM:H53.61 ICD9CM:368.63 SNOMEDCT_US_2015_03_01:193692003 SNOMEDCT_US_2015_03_01:50455002 UMLS_CUI:C0155019 abnormal dark adaptation curve abnormal dark adaptation curve (disorder) abnormal dark adaptive curve NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:50455002 abnormal dark adaptation curve (disorder) SNOMEDCT_2005_07_31:193692003 abnormal dark adaptive curve NOS (disorder) ICD9CM_2006:368.63 abnormal dark adaptation curve denture stomatitis DOID:11875 Denture sore mouth Denture stomatitis (disorder) Denture stomatitis [Ambiguous] ICD10CM:K12.1 MSH:D013282 SNOMEDCT_US_2015_03_01:196576008 SNOMEDCT_US_2015_03_01:69254008 UMLS_CUI:C0038364 disease_ontology Denture sore mouth MTHICD9_2006:528.9 Denture stomatitis [Ambiguous] SNOMEDCT_2005_07_31:196576008 Denture stomatitis (disorder) SNOMEDCT_2005_07_31:69254008 mononeuropathy DOID:1188 ICD10CM:G58.9 MSH:D020422 Mononeuropathy Mononeuropathy (disorder) SNOMEDCT_US_2015_03_01:128189008 SNOMEDCT_US_2015_03_01:304595001 UMLS_CUI:C0494491 disease_ontology Mononeuropathy SNOMEDCT_2005_07_31:304595001 Mononeuropathy (disorder) SNOMEDCT_2005_07_31:128189008 ureteral benign neoplasm DOID:11885 MSH:D014516 NCI:C3427 SNOMEDCT_US_2015_03_01:126882009 UMLS_CUI:C0041955 disease_ontology neoplasm of ureter (disorder) ureteral tumor NCI2004_11_17:C3427 ureteral tumor SNOMEDCT_2005_07_31:126882009 neoplasm of ureter (disorder) ureter leiomyoma DOID:11887 NCI:C6161 UMLS_CUI:C1336875 disease_ontology ureteral leiomyoma NCI2004_11_17:C6161 ureteral leiomyoma Schwannoma of ureter DOID:11888 NCI:C6162 UMLS_CUI:C1336877 disease_ontology ureteral Schwannoma NCI2004_11_17:C6162 ureteral Schwannoma female breast nipple and areola cancer DOID:11889 ICD9CM:174.0 SNOMEDCT_US_2015_03_01:188147009 SNOMEDCT_US_2015_03_01:188150007 UMLS_CUI:C0024621 disease_ontology malignant neoplasm of nipple and areola of female breast (disorder) malignant neoplasm of nipple or areola of female breast NOS (disorder) SNOMEDCT_2005_07_31:188147009 malignant neoplasm of nipple and areola of female breast (disorder) SNOMEDCT_2005_07_31:188150007 malignant neoplasm of nipple or areola of female breast NOS (disorder) Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. DOID:11892 disease_ontology sarcodina true A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. url:http://en.wikipedia.org/wiki/Amoebozoa cutaneous amebiasis Amebic skin ulceration Amebic ulcer of skin (disorder) Amoebic skin ulceration An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. DOID:11893 amebic ulcer of skin disease_ontology true Amoebic skin ulceration SNOMEDCT_2005_07_31:54065007 Amebic ulcer of skin (disorder) SNOMEDCT_2005_07_31:400086005 An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. url:http://www.ncbi.nlm.nih.gov/pubmed/16780468 Amebic skin ulceration ICD9CM_2006:006.6 Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. Acanthameba keratitis Acanthamoeba keratitis (disorder) DOID:11896 disease_ontology true Acanthameba keratitis SNOMEDCT_2005_07_31:187243004 A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. url:http://www.cdc.gov/acanthamoeba/disease.html Acanthamoeba keratitis (disorder) SNOMEDCT_2005_07_31:231896005 Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. DOID:0050248 DOID:11897 disease_ontology true A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. url:http://www.dpd.cdc.gov/DPDx/HTML/Blastocystis.htm vaginal cancer A female reproductive system cancer that is located_in the vagina. DOID:119 DOID:1902 ICD10CM:C52 ICD9CM:184.0 MSH:D014625 NCI:C3437 NCI:C7410 SNOMEDCT_US_2015_03_01:126921000 SNOMEDCT_US_2015_03_01:154534007 SNOMEDCT_US_2015_03_01:188210000 SNOMEDCT_US_2015_03_01:363445000 UMLS_CUI:C0042237 UMLS_CUI:C0042258 disease_ontology malignant neoplasm of vagina malignant tumor of vagina (disorder) malignant vaginal tumor neoplasm of vagina (disorder) vagina neoplasm vaginal tumor ICD9CM_2006:184.0 malignant neoplasm of vagina SNOMEDCT_2005_07_31:126921000 neoplasm of vagina (disorder) CSP2005:2016-2004 vagina neoplasm A female reproductive system cancer that is located_in the vagina. url:http://www.cancer.gov/dictionary?CdrID=523460 NCI2004_11_17:C7410 malignant vaginal tumor NCI2004_11_17:C3437 vaginal tumor SNOMEDCT_2005_07_31:363445000 malignant tumor of vagina (disorder) cerebral amebiasis Amebic brain abscess Amebic brain abscess (disorder) An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. DOID:11902 amebic abscess of brain disease_ontology true An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. url:http://emedicine.medscape.com/article/996092-overview url:http://www.ncbi.nlm.nih.gov/sites/entrez/8126521 Amebic brain abscess ICD9CM_2006:006.5 Amebic brain abscess (disorder) SNOMEDCT_2005_07_31:27908001 labium majus cancer DOID:11905 ICD10CM:C51.0 ICD9CM:184.1 NCI:C7638 SNOMEDCT_US_2015_03_01:188212008 SNOMEDCT_US_2015_03_01:363446004 SNOMEDCT_US_2015_03_01:93850006 UMLS_CUI:C0496814 disease_ontology malignant neoplasm of labia majora malignant neoplasm of labia majora (disorder) malignant neoplasm of labia majora NOS (disorder) malignant tumor of Labia Majora SNOMEDCT_2005_07_31:188212008 malignant neoplasm of labia majora NOS (disorder) ICD9CM_2006:184.1 malignant neoplasm of labia majora NCI2004_11_17:C7638 malignant tumor of Labia Majora SNOMEDCT_2005_07_31:363446004 malignant neoplasm of labia majora (disorder) SNOMEDCT_2005_07_31:93850006 malignant neoplasm of labia majora ecthyma DOID:11907 Ecthyma (disorder) ICD10CM:L01.09 MSH:D004473 SNOMEDCT_US_2015_03_01:85791004 UMLS_CUI:C0013568 disease_ontology Ecthyma (disorder) SNOMEDCT_2005_07_31:85791004 gastroparesis DOID:11914 Gastroparalysis Gastroparesis syndrome (disorder) [Ambiguous] ICD10CM:K31.84 ICD9CM:536.3 MSH:D018589 NCI:C80512 SNOMEDCT_US_2015_03_01:196753007 SNOMEDCT_US_2015_03_01:235675006 SNOMEDCT_US_2015_03_01:77164002 UMLS_CUI:C0152020 disease_ontology gastric atonia (disorder) Gastroparalysis MTHICD9_2006:536.3 SNOMEDCT_2005_07_31:196753007 gastric atonia (disorder) Gastroparesis syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:77164002 tinea cruris (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. DOID:11917 Dermatophytosis of Groin and Perianal Area Dermatophytosis of groin and perianal area (disorder) Dermatophytosis of groin and perianal area NOS (disorder) ICD9CM:110.3 NCI:C34535 SNOMEDCT_US_2015_03_01:186989008 SNOMEDCT_US_2015_03_01:186992007 SNOMEDCT_US_2015_03_01:266150008 SNOMEDCT_US_2015_03_01:59089002 UMLS_CUI:C0011638 disease_ontology (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) SNOMEDCT_2005_07_31:186989008 Dermatophytosis of groin and perianal area (disorder) SNOMEDCT_2005_07_31:266150008 Dermatophytosis of Groin and Perianal Area NCI2004_11_17:C34535 Dermatophytosis of groin and perianal area NOS (disorder) SNOMEDCT_2005_07_31:186992007 A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. url:http://en.wikipedia.org/wiki/Tinea_cruris peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system. DOID:1192 DOID:3194 MSH:D010524 MSH:D018317 NCI:C3321 NCI:C4972 SNOMEDCT_US_2015_03_01:115242003 SNOMEDCT_US_2015_03_01:126980002 SNOMEDCT_US_2015_03_01:134214003 SNOMEDCT_US_2015_03_01:189946005 SNOMEDCT_US_2015_03_01:189953001 UMLS_CUI:C0031118 UMLS_CUI:C0206727 disease_ontology neoplasm of peripheral nerve (disorder) nerve sheath neoplasm nerve sheath tumors tumor of PNS CSP2005:2012-6947 nerve sheath neoplasm NCI2004_11_17:C3321 tumor of PNS SNOMEDCT_2005_07_31:126980002 neoplasm of peripheral nerve (disorder) A nervous system cancer that is located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Peripheral_nervous_system tracheal cancer A respiratory system cancer that is located_in the trachea. Ca trachea DOID:11920 ICD10CM:C33 ICD9CM:162.0 NCI:C9346 SNOMEDCT_US_2015_03_01:187855003 SNOMEDCT_US_2015_03_01:269562004 SNOMEDCT_US_2015_03_01:363432004 UMLS_CUI:C0153489 disease_ontology malignant Tracheal tumor malignant neoplasm of trachea malignant tumor of trachea (disorder) tracheal neoplasm SNOMEDCT_2005_07_31:363432004 malignant tumor of trachea (disorder) NCI2004_11_17:C9346 malignant Tracheal tumor A respiratory system cancer that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer Ca trachea SNOMEDCT_2005_07_31:269562004 MTH:NOCODE malignant neoplasm of trachea head and neck cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. DOID:11934 MSH:D006258 NCI:C3077 SNOMEDCT_US_2015_03_01:255055008 UMLS_CUI:C0018671 disease_ontology head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck (disorder) An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. url:http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=257519 url:http://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php MTH:NOCODE head and neck neoplasm SNOMEDCT_2005_07_31:255055008 tumor of head and neck (disorder) CSP2005:2005-4325 head/neck neoplasm schizo-affective type schizophrenia subchronic state DOID:11939 disease_ontology true Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. DOID:11943 Leukorrhoea vaginalis - trichomonal Trichomonal leukorrhoea Trichomonal vaginitis &/or vulvovaginitis Trichomonal vaginitis (disorder) Trichomonal vulvovaginitis Trichomonal vulvovaginitis (disorder) disease_ontology true vaginal trichomoniasis (disorder) ICD9CM_2006:131.01 Trichomonal vulvovaginitis SNOMEDCT_2005_07_31:500000 vaginal trichomoniasis (disorder) SNOMEDCT_2005_07_31:266165009 Trichomonal leukorrhoea Leukorrhoea vaginalis - trichomonal SNOMEDCT_2005_07_31:187201006 SNOMEDCT_2005_07_31:187202004 Trichomonal vaginitis &/or vulvovaginitis SNOMEDCT_2005_07_31:81598001 Trichomonal vulvovaginitis (disorder) SNOMEDCT_2005_07_31:276877003 Trichomonal vaginitis (disorder) A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. DOID:11944 Trichomonal prostatitis Trichomonal prostatitis (disorder) disease_ontology true ICD9CM_2006:131.03 Trichomonal prostatitis SNOMEDCT_2005_07_31:71590000 Trichomonal prostatitis (disorder) SNOMEDCT_2005_07_31:187203009 Trichomonal prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. DOID:11945 Trichomonal cystitis (disorder) disease_ontology true SNOMEDCT_2005_07_31:197850006 Trichomonal cystitis (disorder) A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. url:http://www.merck.com/mmpe/sec14/ch194/ch194j.html habitual abortion Aborter - recurrent DOID:11946 Habitual aborter Habitual aborter - unspecified (disorder) Habitual aborter NOS (disorder) chronic spontaneous abortion disease_ontology recurrent abortion (disorder) recurrent miscarriage true Aborter - recurrent SNOMEDCT_2005_07_31:268574009 SNOMEDCT_2005_07_31:102878001 recurrent abortion (disorder) Habitual aborter SNOMEDCT_2005_07_31:54726000 Habitual aborter NOS (disorder) SNOMEDCT_2005_07_31:199090000 Habitual aborter - unspecified (disorder) SNOMEDCT_2005_07_31:199086002 SNOMEDCT_2005_07_31:156126009 recurrent miscarriage CSP2005:2404-4533 chronic spontaneous abortion Aborter - recurrent SNOMEDCT_2005_07_31:146811001 recurrent major depression in complete remission DOID:11947 Major depressive disorder, recurrent episode, in full remission disease_ontology recurrent major depression in complete remission (disorder) recurrent major depressive episodes, in full remission (disorder) true SNOMEDCT_2005_07_31:191615005 recurrent major depressive episodes, in full remission (disorder) SNOMEDCT_2005_07_31:46244001 recurrent major depression in complete remission (disorder) ICD9CM_2006:296.36 Major depressive disorder, recurrent episode, in full remission Creutzfeldt-Jakob disease CJD (Creutzfeldt Jakob disease) Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease DOID:11949 EFO:0004226 ICD10CM:A81.0 ICD10CM:A81.00 ICD9CM:046.1 Jakob-Creutzfeldt disease MSH:D007562 NCI:C26802 OMIM mapping confirmed by DO. [SN]. OMIM:123400 SNOMEDCT_US_2015_03_01:155061007 SNOMEDCT_US_2015_03_01:792004 SNOMEDCT_US_2015_03_01:79358009 Subacute spongiform encephalopathy Transmissible virus dementia (disorder) UMLS_CUI:C0022336 disease_ontology CJD (Creutzfeldt Jakob disease) CSP2005:2042-5006 Creutzfeldt-Jacob disease NCI2004_11_17:C26802 MTHICD9_2006:046.1 Subacute spongiform encephalopathy ICD9CM_2006:046.1 Jakob-Creutzfeldt disease SNOMEDCT_2005_07_31:79358009 Transmissible virus dementia (disorder) ischemic neuropathy DOID:1195 Ischemic Neuropathy Ischemic neuropathy (disorder) Ischemic peripheral neuropathy (disorder) NCI:C27025 SNOMEDCT_US_2015_03_01:129611009 SNOMEDCT_US_2015_03_01:230599000 UMLS_CUI:C0238309 disease_ontology Ischemic peripheral neuropathy (disorder) SNOMEDCT_2005_07_31:129611009 Ischemic neuropathy (disorder) SNOMEDCT_2005_07_31:230599000 Ischemic Neuropathy NCI2004_11_17:C27025 Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium DOID:11950 DOID:11951 DOID:11953 antepartum congenital cardiovascular disorder of mother disease_ontology postpartum congenital cardiovascular disorder of mother true Congenital cardiovascular disorder of mother, with delivery DOID:11952 disease_ontology true psychosexual dysfunction with inhibited sexual excitement DOID:11954 Psychosexual Dysfunction with Inhibited Sexual Excitement disease_ontology true NCI2004_11_17:C34960 Psychosexual Dysfunction with Inhibited Sexual Excitement malnutrition of moderate degree DOID:11955 disease_ontology true esophagitis DOID:11962 DOID:11963 ICD10CM:K20 ICD10CM:K20.9 ICD9CM:530.1 ICD9CM:530.10 MSH:D004941 NCI:C9224 SNOMEDCT_US_2015_03_01:155673008 SNOMEDCT_US_2015_03_01:16761005 SNOMEDCT_US_2015_03_01:196605000 SNOMEDCT_US_2015_03_01:266498005 UMLS_CUI:C0014868 acute esophagitis acute esophagitis (disorder) disease_ontology SNOMEDCT_2005_07_31:409656006 acute esophagitis (disorder) Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. DOID:11964 Histoplasma capsulatum with retinitis (disorder) disease_ontology true Histoplasma capsulatum with retinitis (disorder) SNOMEDCT_2005_07_31:187039009 An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. url:http://www.ncbi.nlm.nih.gov/pubmed/1945308 postmenopausal atrophic vaginitis DOID:11968 ICD10CM:N95.2 ICD9CM:627.3 SNOMEDCT_US_2015_03_01:156054004 SNOMEDCT_US_2015_03_01:52441000 Senile vaginitis UMLS_CUI:C0156409 atrophic vaginitis (disorder) disease_ontology MTHICD9_2006:627.3 Senile vaginitis SNOMEDCT_2005_07_31:52441000 atrophic vaginitis (disorder) symptomatic menopausal or female climacteric state DOID:11970 disease_ontology true synostosis A dysostosis that results_in abnormal fusing of adjacent bones. DOID:11971 MSH:D013580 UMLS_CUI:C0039093 disease_ontology A dysostosis that results_in abnormal fusing of adjacent bones. url:http://en.wikipedia.org/wiki/Synostosis url:http://medical-dictionary.thefreedictionary.com/synostosis coloboma of optic nerve Coloboma of optic disc (disorder) DOID:11975 ICD10CM:H47.31 ICD10CM:H47.319 ICD10CM:Q14.2 ICD9CM:377.23 MSH:C535970 OMIM mapping confirmed by DO. [SN]. OMIM:120430 SNOMEDCT_US_2015_03_01:155191004 SNOMEDCT_US_2015_03_01:17541006 SNOMEDCT_US_2015_03_01:194049000 SNOMEDCT_US_2015_03_01:204184001 SNOMEDCT_US_2015_03_01:267744000 SNOMEDCT_US_2015_03_01:44295002 UMLS_CUI:C0155299 disease_ontology Coloboma of optic disc (disorder) SNOMEDCT_2005_07_31:17541006 botulism A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. Botulism poisoning CSP:5000-0060 DOID:11976 Food poisoning due to Clostridium botulinum Foodborne botulism ICD10CM:A05.1 Infection due to clostridium botulinum Intoxication with Clostridium botulinum toxin MSH:D001906 NCI:C84599 SNOMEDCT_US_2015_03_01:154276003 SNOMEDCT_US_2015_03_01:186110004 SNOMEDCT_US_2015_03_01:266177004 SNOMEDCT_US_2015_03_01:398523009 SNOMEDCT_US_2015_03_01:398530003 SNOMEDCT_US_2015_03_01:398565003 SNOMEDCT_US_2015_03_01:414531002 SNOMEDCT_US_2015_03_01:49248004 UMLS_CUI:C0006057 disease_ontology Intoxication with Clostridium botulinum toxin SNOMEDCT_2005_07_31:414531002 A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. url:http://emedicine.medscape.com/article/325451-overview url:http://en.wikipedia.org/wiki/Botulism url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html url:http://pathema.jcvi.org/pathema/botulinum_resources.shtml url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf url:http://www.who.int/mediacentre/factsheets/fs270/en/ Food poisoning due to Clostridium botulinum MTHICD9_2006:005.1 Infection due to clostridium botulinum SNOMEDCT_2005_07_31:398565003 Foodborne botulism SNOMEDCT_2005_07_31:398523009 disorder of magnesium metabolism DOID:11977 Magnesium disorder disease_ontology disorder of magnesium metabolism disorder of magnesium metabolism (disorder) disorder of magnesium metabolism NOS (disorder) true SNOMEDCT_2005_07_31:190857007 disorder of magnesium metabolism NOS (disorder) ICD9CM_2006:275.2 disorder of magnesium metabolism Magnesium disorder SNOMEDCT_2005_07_31:154751003 SNOMEDCT_2005_07_31:60853003 disorder of magnesium metabolism (disorder) Magnesium disorder SNOMEDCT_2005_07_31:267504005 chronic pyelonephritis without lesion of renal medullary necrosis DOID:11978 disease_ontology true morbid obesity DOID:11981 ICD9CM:278.01 MSH:D009767 Morbid Obesity Morbid obesity Morbid obesity (disorder) NCI:C34858 SNOMEDCT_US_2015_03_01:190967003 SNOMEDCT_US_2015_03_01:238136002 SNOMEDCT_US_2015_03_01:389986000 Severe obesity UMLS_CUI:C0028756 disease_ontology Morbid Obesity NCI2004_11_17:C34858 MTHICD9_2006:278.01 Severe obesity Morbid obesity SNOMEDCT_2005_07_31:190967003 ICD9CM_2006:278.01 Morbid obesity Morbid obesity SNOMEDCT_2005_07_31:389986000 Morbid obesity (disorder) SNOMEDCT_2005_07_31:238136002 Prader-Willi syndrome DOID:11983 ICD10CM:Q87.1 ICD9CM:759.81 MSH:D011218 NCI:C75463 OMIM mapping confirmed by DO. [SN]. OMIM:176270 Prader Willi syndrome SNOMEDCT_US_2015_03_01:205794007 SNOMEDCT_US_2015_03_01:89392001 UMLS_CUI:C0032897 disease_ontology CSP2005:1849-7731 Prader Willi syndrome hypertrophic cardiomyopathy An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. DOID:11984 DOID:11986 ICD10CM:I42.1 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MSH:D002312 MSH:D024741 NCI:C34449 NCI:C84773 OMIM:115195 OMIM:115196 OMIM:115197 OMIM:192600 OMIM:600858 OMIM:608751 OMIM:608758 OMIM:612098 OMIM:612124 OMIM:613243 OMIM:613251 OMIM:613255 OMIM:613690 OMIM:613765 OMIM:613838 OMIM:613873 OMIM:613874 OMIM:613875 OMIM:613876 OMIM:614676 ORDO:155 SNOMEDCT_US_2015_03_01:15471000 SNOMEDCT_US_2015_03_01:155351008 SNOMEDCT_US_2015_03_01:233873004 SNOMEDCT_US_2015_03_01:266301006 SNOMEDCT_US_2015_03_01:389998005 SNOMEDCT_US_2015_03_01:389999002 SNOMEDCT_US_2015_03_01:45227007 SNOMEDCT_US_2015_03_01:83978005 UMLS_CUI:C0007194 UMLS_CUI:C0949658 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy SNOMEDCT_2005_07_31:389999002 hypertrophic obstructive cardiomyopathy An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. url:http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy url:http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy url:http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ anorectal gonorrhea DOID:11987 disease_ontology gonococcal infectious disease of anus and rectum gonococcal proctitis true conjunctival concretion Conjunctival concretion (disorder) Conjunctival concretions DOID:11988 ICD10CM:H11.12 ICD9CM:372.54 SNOMEDCT_US_2015_03_01:13706005 UMLS_CUI:C0155162 disease_ontology Conjunctival concretions ICD9CM_2006:372.54 Conjunctival concretion (disorder) SNOMEDCT_2005_07_31:13706005 ulceroglandular tularemia A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. DOID:11990 ICD10CM:A21.0 ICD9CM:021.0 SNOMEDCT_US_2015_03_01:37722001 UMLS_CUI:C0152941 Ulceroglandular tularemia (disorder) disease_ontology A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. url:http://emedicine.medscape.com/article/230923-clinical url:http://www.cdc.gov/tularemia/signssymptoms/ SNOMEDCT_2005_07_31:37722001 Ulceroglandular tularemia (disorder) osteopoikilosis An osteosclerosis that results_in numerous bone islands located_in skeleton. DOID:11991 ICD10CM:Q78.8 ICD9CM:756.53 MSH:D010023 NCI:C84985 SNOMEDCT_US_2015_03_01:9147009 UMLS_CUI:C0029455 disease_ontology An osteosclerosis that results_in numerous bone islands located_in skeleton. url:http://en.wikipedia.org/wiki/Osteopoikilosis url:http://www.bonetumor.org/unknown-tumor-type-bone/osteopoikilosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteopoikilosis.aspx atrophy of testis Atrophy of testis (disorder) DOID:11994 ICD10CM:N50.0 ICD9CM:608.3 SNOMEDCT_US_2015_03_01:155938008 SNOMEDCT_US_2015_03_01:17585008 SNOMEDCT_US_2015_03_01:249242001 UMLS_CUI:C0156312 disease_ontology Atrophy of testis (disorder) SNOMEDCT_2005_07_31:17585008 spermatic cord torsion DOID:11996 ICD10CM:N44.0 ICD10CM:N44.00 ICD10CM:N44.02 ICD9CM:608.2 ICD9CM:608.20 MSH:D013086 NCI:C26885 OMIM:187400 SNOMEDCT_US_2015_03_01:155937003 SNOMEDCT_US_2015_03_01:198045001 SNOMEDCT_US_2015_03_01:198046000 SNOMEDCT_US_2015_03_01:198048004 SNOMEDCT_US_2015_03_01:49198006 SNOMEDCT_US_2015_03_01:81996005 Torsion of spermatic cord Torsion of spermatic cord (disorder) Torsion of testicle Torsion of testis Torsion of testis (disorder) Torsion of testis NOS (disorder) Torsion of testis unspecified (disorder) UMLS_CUI:C0037856 disease_ontology testicular Torsion SNOMEDCT_2005_07_31:198048004 Torsion of testis NOS (disorder) MTHICD9_2006:608.2 Torsion of testicle SNOMEDCT_2005_07_31:198046000 Torsion of spermatic cord SNOMEDCT_2005_07_31:155937003 Torsion of testis NCI2004_11_17:C26885 testicular Torsion SNOMEDCT_2005_07_31:81996005 Torsion of testis (disorder) SNOMEDCT_2005_07_31:49198006 Torsion of spermatic cord (disorder) SNOMEDCT_2005_07_31:198045001 Torsion of testis unspecified (disorder) ICD9CM_2006:608.2 Torsion of testis spermatocele DOID:11997 ICD10CM:N43.4 ICD10CM:N43.40 ICD10CM:N50.3 ICD9CM:608.1 MSH:D013088 NCI:C3865 SNOMEDCT_US_2015_03_01:155936007 SNOMEDCT_US_2015_03_01:155941004 SNOMEDCT_US_2015_03_01:43077002 SNOMEDCT_US_2015_03_01:49263001 Spermatocele (disorder) UMLS_CUI:C0037859 disease_ontology SNOMEDCT_2005_07_31:49263001 Spermatocele (disorder) female reproductive organ cancer A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. DOID:120 DOID:1244 DOID:1281 ICD10CM:C57 ICD9CM:184 MSH:D005833 NCI:C3053 NCI:C4913 SNOMEDCT_US_2015_03_01:126907002 SNOMEDCT_US_2015_03_01:188207007 UMLS_CUI:C0017416 UMLS_CUI:C0153585 UMLS_CUI:C0699889 disease_ontology female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm NCI2004_11_17:C4913 malignant Gynecologic tumor secondary malignant neoplasm of trachea DOID:12000 disease_ontology metastatic tumor to the Trachea secondary malignant neoplasm of trachea (disorder) true NCI2004_11_17:C4887 metastatic tumor to the Trachea SNOMEDCT_2005_07_31:94641004 secondary malignant neoplasm of trachea (disorder) tracheal lymphoma DOID:12001 Lymphoma of Trachea NCI:C6248 UMLS_CUI:C1336773 disease_ontology lymphoma of the trachea Lymphoma of Trachea NCI2004_11_17:C6248 trachea sarcoma A sarcoma and malignant tumor of trachea that is located_in the trachea. DOID:12002 NCI:C6050 UMLS_CUI:C1336774 disease_ontology sarcoma of the trachea NCI2004_11_17:C6050 sarcoma of the trachea A sarcoma and malignant tumor of trachea that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer trachea squamous cell carcinoma DOID:12003 NCI:C4448 SNOMEDCT_US_2015_03_01:254620000 Tracheal Epidermoid carcinoma UMLS_CUI:C0345946 disease_ontology squamous cell carcinoma of trachea squamous cell carcinoma of trachea (disorder) NCI2004_11_17:C4448 Tracheal Epidermoid carcinoma SNOMEDCT_2005_07_31:254620000 squamous cell carcinoma of trachea (disorder) trigeminal nerve neoplasm DOID:1201 NCI:C5122 SNOMEDCT_US_2015_03_01:126971002 UMLS_CUI:C1263897 disease_ontology neoplasm of trigeminal nerve (disorder) tumor of Trigeminal nerve NCI2004_11_17:C5122 tumor of Trigeminal nerve SNOMEDCT_2005_07_31:126971002 neoplasm of trigeminal nerve (disorder) anterior ischemic optic neuropathy DOID:12010 ICD10CM:H47.01 ICD9CM:377.41 Ischemic optic neuropathy MSH:D018917 SNOMEDCT_US_2015_03_01:14357004 UMLS_CUI:C0155305 disease_ontology ICD9CM_2006:377.41 Ischemic optic neuropathy frontal lobe neoplasm DOID:12015 DOID:12016 ICD10CM:C71.1 ICD9CM:191.1 NCI:C5572 SNOMEDCT_US_2015_03_01:126954003 SNOMEDCT_US_2015_03_01:363467004 SNOMEDCT_US_2015_03_01:93807001 UMLS_CUI:C0153635 UMLS_CUI:C1263886 disease_ontology malignant neoplasm of frontal lobe malignant neoplasm of frontal lobe (disorder) neoplasm of frontal lobe (disorder) tumor of Frontal Lobe NCI2004_11_17:C5572 tumor of Frontal Lobe ICD9CM_2006:191.1 SNOMEDCT_2005_07_31:93807001 malignant neoplasm of frontal lobe SNOMEDCT_2005_07_31:126954003 neoplasm of frontal lobe (disorder) SNOMEDCT_2005_07_31:363467004 malignant neoplasm of frontal lobe (disorder) group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. DOID:12017 Group B Group B streptococcal pneumonia (disorder) Pneumonia due to Streptococcus Group B disease_ontology true Group B ICD9CM_2006:482.32 Group B streptococcal pneumonia (disorder) SNOMEDCT_2005_07_31:195886008 A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. url:http://en.wikipedia.org/wiki/Streptococcus#Group_B url:http://www.ncbi.nlm.nih.gov/pubmed/11462195 MTHICD9_2006:482.32 Pneumonia due to Streptococcus Group B group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. DOID:12019 disease_ontology pneumonia due to streptococcus group A true A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false malignant neoplasm of corpus uteri, except isthmus DOID:12020 disease_ontology malignant neoplasm of corpus uteri, excluding isthmus (disorder) true SNOMEDCT_2005_07_31:188189001 malignant neoplasm of corpus uteri, excluding isthmus (disorder) leukemic reticuloendotheliosis of intrathoracic lymph nodes DOID:12021 Leukemic reticuloendotheliosis involving intrathoracic lymph nodes Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder) Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) disease_ontology true ICD9CM_2006:202.42 Leukemic reticuloendotheliosis involving intrathoracic lymph nodes Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188646001 Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93146001 spontaneous abortion complicated by genital tract and pelvic infectious disease DOID:12022 disease_ontology spontaneous abortion, unspecified, complicated by genital tract and pelvic infection true ICD9CM_2006:634.00 spontaneous abortion, unspecified, complicated by genital tract and pelvic infection Conn's syndrome An adrenal admenoma characterized by over production of aldosterone. Conn syndrome DOID:12028 ICD10CM:E26.0 ICD10CM:E26.01 ICD9CM:255.12 MSH:D006929 NCI:C34510 SNOMEDCT_US_2015_03_01:13536004 SNOMEDCT_US_2015_03_01:154709005 SNOMEDCT_US_2015_03_01:190506003 SNOMEDCT_US_2015_03_01:190507007 SNOMEDCT_US_2015_03_01:258117004 SNOMEDCT_US_2015_03_01:267484005 UMLS_CUI:C1384514 disease_ontology primary aldosteronism primary hyperaldosteronism NCI2004_11_17:C34510 primary hyperaldosteronism An adrenal admenoma characterized by over production of aldosterone. url:http://en.wikipedia.org/wiki/Conn%27s_syndrome ICD9CM_2006:255.10 primary aldosteronism sympathetic ophthalmia DOID:12029 ICD10CM:H44.13 ICD9CM:360.11 MSH:D009879 SNOMEDCT_US_2015_03_01:75315001 Sympathetic uveitis Sympathetic uveitis (disorder) UMLS_CUI:C0029077 disease_ontology SNOMEDCT_2005_07_31:75315001 Sympathetic uveitis (disorder) ICD9CM_2006:360.11 Sympathetic uveitis drug-induced mental disorder DOID:1203 ICD9CM:292.8 ICD9CM:292.89 UMLS_CUI:C0154325 disease_ontology panuveitis DOID:12030 Diffuse uveitis ICD10CM:H44.11 ICD9CM:360.12 MSH:D015864 NCI:C84989 SNOMEDCT_US_2015_03_01:75614007 UMLS_CUI:C0030343 disease_ontology Diffuse uveitis SNOMEDCT_2005_07_31:75614007 arthropathy due to hypersensitivity reaction Arthropathy associated with a hypersensitivity reaction (disorder) Arthropathy associated with hypersensitivity reaction DOID:1204 disease_ontology true Arthropathy associated with hypersensitivity reaction ICD9CM_2006:713.6 Arthropathy associated with a hypersensitivity reaction (disorder) SNOMEDCT_2005_07_31:53338001 immune hydrops fetalis DOID:12040 Hydrops fetalis - due to isoim Hydrops fetalis due to isoimmunization Hydrops fetalis due to isoimmunization (disorder) Hydrops fetalis due to isoimmunization [dup] (disorder) disease_ontology true Hydrops fetalis - due to isoim SNOMEDCT_2005_07_31:157134005 Hydrops fetalis due to isoimmunization [dup] (disorder) SNOMEDCT_2005_07_31:206432002 Hydrops fetalis due to isoimmunization (disorder) SNOMEDCT_2005_07_31:15539009 Hydrops fetalis - due to isoim SNOMEDCT_2005_07_31:268879006 Hydrops fetalis due to isoimmunization ICD9CM_2006:773.3 kernicterus due to isoimmunization DOID:12043 ICD10CM:P57.0 ICD9CM:773.4 Kernicterus - due to isoimm. Kernicterus due to isoimmunization (disorder) Kernicterus due to isoimmunization [dup] (disorder) Kernicterus due to isoimmunization of fetus or newborn NCI:C101270 SNOMEDCT_US_2015_03_01:157135006 SNOMEDCT_US_2015_03_01:206433007 SNOMEDCT_US_2015_03_01:268880009 SNOMEDCT_US_2015_03_01:359007 UMLS_CUI:C0270204 disease_ontology ICD9CM_2006:773.4 Kernicterus due to isoimmunization of fetus or newborn Kernicterus due to isoimmunization [dup] (disorder) SNOMEDCT_2005_07_31:206433007 Kernicterus - due to isoimm. SNOMEDCT_2005_07_31:268880009 Kernicterus due to isoimmunization (disorder) SNOMEDCT_2005_07_31:359007 Kernicterus - due to isoimm. SNOMEDCT_2005_07_31:157135006 hypersensitivity reaction type I disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. DOID:1205 ICD10CM:T78.40 MSH:D006967 NCI:C3114 SNOMEDCT_US_2015_03_01:106190000 SNOMEDCT_US_2015_03_01:127072000 SNOMEDCT_US_2015_03_01:157754004 SNOMEDCT_US_2015_03_01:157758001 SNOMEDCT_US_2015_03_01:212998004 SNOMEDCT_US_2015_03_01:212999007 SNOMEDCT_US_2015_03_01:21957007 SNOMEDCT_US_2015_03_01:257550005 SNOMEDCT_US_2015_03_01:269284003 SNOMEDCT_US_2015_03_01:269432007 SNOMEDCT_US_2015_03_01:274211000 SNOMEDCT_US_2015_03_01:282092005 SNOMEDCT_US_2015_03_01:418168000 SNOMEDCT_US_2015_03_01:418634005 SNOMEDCT_US_2015_03_01:418925002 SNOMEDCT_US_2015_03_01:421668005 SNOMEDCT_US_2015_03_01:421961002 SNOMEDCT_US_2015_03_01:91232002 UMLS_CUI:C0020517 allergy disease_ontology hypersensitivity An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. Cryptococcal meningitis Cryptococcal meningitis (disorder) DOID:12052 disease_ontology true Cryptococcal meningitis ICD9CM_2006:321.0 Cryptococcal meningitis (disorder) SNOMEDCT_2005_07_31:14232007 Cryptococcal meningitis SNOMEDCT_2005_07_31:187092002 A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 cryptococcosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. Busse-Buschke's disease DOID:12053 European cryptococcosis ICD10CM:B45 ICD10CM:B45.9 ICD9CM:117.5 MSH:D003453 NCI:C2967 SNOMEDCT_US_2015_03_01:187090005 SNOMEDCT_US_2015_03_01:187097008 SNOMEDCT_US_2015_03_01:187494009 SNOMEDCT_US_2015_03_01:20850004 SNOMEDCT_US_2015_03_01:42386007 UMLS_CUI:C0010414 cryptococcal infection cryptococcus neoformans infection disease_ontology torula torulosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. url:http://en.wikipedia.org/wiki/Cryptococcosis Busse-Buschke's disease SNOMEDCT_2005_07_31:20850004 CSP2005:1988-4587 torulosis CSP2005:1198-5059 torula European cryptococcosis MTHICD9_2006:117.5 Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. DOID:12054 Meningitis due to trypanosomiasis Trypanosomiasis with meningitis (disorder) disease_ontology true trypanosomiasis with meningitis SNOMEDCT_2005_07_31:5566009 Trypanosomiasis with meningitis (disorder) ICD9CM_2006:321.3 Meningitis due to trypanosomiasis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. url:http://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract sarcoid meningitis DOID:12055 ICD10CM:D86.81 ICD9CM:321.4 Meningitis in sarcoidosis SNOMEDCT_US_2015_03_01:192673008 Sarcoid meningitis (disorder) UMLS_CUI:C0154648 disease_ontology SNOMEDCT_2005_07_31:192673008 Sarcoid meningitis (disorder) ICD9CM_2006:321.4 Meningitis in sarcoidosis meningitis with clear cerebrospinal fluid DOID:12056 Non-pyogenic meningitis (disorder) Nonpyogenic meningitis Nonpyogenic meningitis (disorder) disease_ontology true Non-pyogenic meningitis (disorder) SNOMEDCT_2005_07_31:192679007 ICD9CM_2006:322.0 Nonpyogenic meningitis Nonpyogenic meningitis (disorder) SNOMEDCT_2005_07_31:21468000 Fetal-maternal hemorrhage affecting management of mother DOID:12058 DOID:12059 Fetal-maternal hemorrhage, with delivery disease_ontology true Rett syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. DOID:1206 ICD10CM:F84.2 MSH:D015518 NCI:C75488 OMIM mapping confirmed by DO. [SN]. OMIM:312750 OMIM:613454 Rett's disorder SNOMEDCT_US_2015_03_01:192583003 SNOMEDCT_US_2015_03_01:68618008 UMLS_CUI:C0035372 cerebroatrophic hyperammonemia disease_ontology Rett's disorder SNOMEDCT_2005_07_31:68618008 A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm CSP2005:4001-0114 cerebroatrophic hyperammonemia fetal blood loss DOID:12061 Fetal blood loss (disorder) Fetal blood loss NOS (disorder) Fetal blood loss, unspecified (disorder) Fetal haemorrhage disease_ontology true Fetal blood loss, unspecified (disorder) SNOMEDCT_2005_07_31:206391007 Fetal haemorrhage SNOMEDCT_2005_07_31:157124001 Fetal haemorrhage SNOMEDCT_2005_07_31:268877008 Fetal blood loss (disorder) SNOMEDCT_2005_07_31:206390008 Fetal blood loss NOS (disorder) SNOMEDCT_2005_07_31:206394004 mediastinum neurofibroma DOID:12064 NCI:C6631 Neurofibroma of mediastinum UMLS_CUI:C1334674 disease_ontology NCI2004_11_17:C6631 Neurofibroma of mediastinum ganglioneuroma of the mediastinum DOID:12065 Ganglioneuroma of mediastinum disease_ontology true Ganglioneuroma of mediastinum NCI2004_11_17:C6632 Dieulafoy lesion DOID:11791 DOID:12070 Dieulafoy lesion (hemorrhagic) of intestine ICD10CM:K31.82 ICD9CM:537.84 UMLS_CUI:C1135229 dieulafoy lesion (hemorrhagic) of stomach and duodenum disease_ontology pylorospasm DOID:12072 ICD9CM:537.81 Pylorospasm (disorder) SNOMEDCT_US_2015_03_01:335002 UMLS_CUI:C0152163 disease_ontology Pylorospasm (disorder) SNOMEDCT_2005_07_31:335002 interstitial emphysema and related conditions of newborn DOID:12076 disease_ontology true transient arthropathy DOID:10502 DOID:11494 DOID:12080 DOID:12081 DOID:12083 DOID:12084 DOID:2091 DOID:9424 ICD9CM:716.41 Transient arthropathy involving forearm Transient arthropathy involving hand Transient arthropathy involving lower leg Transient arthropathy involving multiple sites Transient arthropathy involving pelvic region and thigh Transient arthropathy involving shoulder region Transient arthropathy involving upper arm UMLS_CUI:C0158007 disease_ontology deep corneal vascularisation DOID:12087 Deep vascularization of cornea Deep vascularization of cornea (disorder) ICD10CM:H16.44 ICD9CM:370.63 SNOMEDCT_US_2015_03_01:2102007 UMLS_CUI:C0155095 disease_ontology Deep vascularization of cornea ICD9CM_2006:370.63 Deep vascularization of cornea (disorder) SNOMEDCT_2005_07_31:2102007 nutritional optic neuropathy DOID:1209 ICD10CM:H46.2 ICD9CM:377.33 Nutritional optic neuropathy (disorder) SNOMEDCT_US_2015_03_01:82108004 UMLS_CUI:C0155302 disease_ontology Nutritional optic neuropathy (disorder) SNOMEDCT_2005_07_31:82108004 vitamin A deficiency with corneal xerosis DOID:12091 disease_ontology true vitamin A deficiency with corneal xerosis (disorder) SNOMEDCT_2005_07_31:35516008 vitamin A deficiency with corneal xerosis (disorder) Galactorrhea associated with childbirth DOID:12092 disease_ontology true sodoku disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. DOID:12096 ICD10CM:A25.0 ICD9CM:026.0 MSH:D011906 SNOMEDCT_US_2015_03_01:19044004 Spirillary fever Spirillosis UMLS_CUI:C0152062 disease_ontology A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. url:http://en.wikipedia.org/wiki/Rat_bite_fever url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf ICD9CM_2006:026.0 Spirillary fever rat-bite fever DOID:12097 Rat bite fever (disorder) Rat-bite fever Rat-bite fever NOS (disorder) Rat-bite fever, unspecified (disorder) Unspecified rat-bite fever disease_ontology true Rat-bite fever NOS (disorder) SNOMEDCT_2005_07_31:186313008 Rat bite fever (disorder) SNOMEDCT_2005_07_31:1685005 ICD9CM_2006:026.9 Unspecified rat-bite fever Rat-bite fever, unspecified (disorder) SNOMEDCT_2005_07_31:187307007 ICD9CM_2006:026 Rat-bite fever trigeminal neuralgia DOID:12098 ICD10CM:G50.0 ICD9CM:350.1 MSH:D014277 OMIM mapping confirmed by DO. [LS]. OMIM:190400 SNOMEDCT_US_2015_03_01:155066002 SNOMEDCT_US_2015_03_01:193090007 SNOMEDCT_US_2015_03_01:31681005 SNOMEDCT_US_2015_03_01:322769008 Trifacial neuralgia Trigeminal neuralgia Trigeminal neuralgia (disorder) Trigeminal neuralgia NOS (disorder) Trigeminal neuralgia [no drugs here] (disorder) UMLS_CUI:C0040997 disease_ontology trifocal neuralgia SNOMEDCT_2005_07_31:31681005 Trigeminal neuralgia (disorder) CSP2005:2042-6701 trifocal neuralgia MTHICD9_2006:350.1 Trifacial neuralgia SNOMEDCT_2005_07_31:155066002 Trigeminal neuralgia SNOMEDCT_2005_07_31:322769008 Trigeminal neuralgia [no drugs here] (disorder) SNOMEDCT_2005_07_31:193090007 Trigeminal neuralgia NOS (disorder) ICD9CM_2006:350.1 Trigeminal neuralgia vaginal disease DOID:121 MSH:D014623 NCI:C26910 SNOMEDCT_US_2015_03_01:156015000 SNOMEDCT_US_2015_03_01:156018003 SNOMEDCT_US_2015_03_01:25658005 SNOMEDCT_US_2015_03_01:266665005 SNOMEDCT_US_2015_03_01:286989007 UMLS_CUI:C0042251 disease_ontology disorder of vagina (disorder) vagina disorder vaginal disorder vaginal disorder NOS vaginal disorder NOS (disorder) NCI2004_11_17:C26910 vaginal disorder SNOMEDCT_2005_07_31:156018003 vaginal disorder NOS SNOMEDCT_2005_07_31:266665005 vaginal disorder NOS SNOMEDCT_2005_07_31:25658005 disorder of vagina (disorder) CSP2005:2587-6329 vagina disorder SNOMEDCT_2005_07_31:286989007 vaginal disorder NOS (disorder) SNOMEDCT_2005_07_31:156015000 vaginal disorder NOS optic neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. DOID:1210 ICD10CM:H46 ICD10CM:H46.9 ICD9CM:377.3 ICD9CM:377.30 MSH:D009902 NCI:C84950 SNOMEDCT_US_2015_03_01:155189007 SNOMEDCT_US_2015_03_01:194051001 SNOMEDCT_US_2015_03_01:194052008 SNOMEDCT_US_2015_03_01:194054009 SNOMEDCT_US_2015_03_01:267743006 SNOMEDCT_US_2015_03_01:66760008 UMLS_CUI:C0029134 disease_ontology An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. sn:IEDB vitamin A deficiency with corneal xerosis and ulcer DOID:12104 disease_ontology true vitamin A deficiency with corneal ulceration AND xerosis (disorder) vitamin A deficiency with corneal ulceration and xerosis vitamin A deficiency with corneal xerosis and ulcer (disorder) SNOMEDCT_2005_07_31:190612001 vitamin A deficiency with corneal xerosis and ulcer (disorder) ICD9CM_2006:264.3 vitamin A deficiency with corneal ulceration and xerosis SNOMEDCT_2005_07_31:90653005 vitamin A deficiency with corneal ulceration AND xerosis (disorder) inflammatory spondylopathy DOID:12105 ICD9CM:720.81 Inflammatory spondylopathies in disease EC (disorder) Inflammatory spondylopathies in disease classified elsewhere Inflammatory spondylopathy in disease classified elsewhere SNOMEDCT_US_2015_03_01:202652006 SNOMEDCT_US_2015_03_01:6963001 UMLS_CUI:C0021396 disease_ontology ICD9CM_2006:720.81 Inflammatory spondylopathies in disease classified elsewhere Inflammatory spondylopathy in disease classified elsewhere SNOMEDCT_2005_07_31:6963001 Inflammatory spondylopathies in disease EC (disorder) SNOMEDCT_2005_07_31:202652006 tricuspid valve syphilitic endocarditis DOID:12106 Syphilitic endocarditis of tricuspid valve (disorder) disease_ontology true SNOMEDCT_2005_07_31:186877007 Syphilitic endocarditis of tricuspid valve (disorder) primary retinal cyst DOID:12107 disease_ontology primary retinal cyst (disorder) primary retinal cysts true ICD9CM_2006:361.13 primary retinal cysts SNOMEDCT_2005_07_31:28157000 primary retinal cyst (disorder) bullous retinoschisis Bullous retinoschisis (disorder) DOID:12108 ICD9CM:361.12 SNOMEDCT_US_2015_03_01:65545003 UMLS_CUI:C0344289 disease_ontology Bullous retinoschisis (disorder) SNOMEDCT_2005_07_31:65545003 vitamin A deficiency with xerophthalmic corneal scar DOID:12111 disease_ontology true vitamin A deficiency with xerophthalmic corneal scars (disorder) vitamin A deficiency with xerophthalmic scars of cornea vitamin A deficiency with xerophthalmic scars of cornea (disorder) SNOMEDCT_2005_07_31:190615004 vitamin A deficiency with xerophthalmic corneal scars (disorder) SNOMEDCT_2005_07_31:4715007 vitamin A deficiency with xerophthalmic scars of cornea (disorder) ICD9CM_2006:264.6 vitamin A deficiency with xerophthalmic scars of cornea nerve deafness DOID:12113 disease_ontology nerve conduction deafness neural hearing loss neural hearing loss (finding) true SNOMEDCT_2005_07_31:80695003 nerve conduction deafness ICD9CM_2006:389.12 neural hearing loss MTH:NOCODE neural hearing loss SNOMEDCT_2005_07_31:73371001 neural hearing loss (finding) streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. DOID:12115 Septic sore throat due to streptococcal infection Strept throat Streptococcal angina Streptococcal sore throat Streptococcal sore throat NOS (disorder) disease_ontology true SNOMEDCT_2005_07_31:186358002 Streptococcal angina MTHICD9_2006:034.0 Septic sore throat due to streptococcal infection SNOMEDCT_2005_07_31:43878008 Strept throat SNOMEDCT_2005_07_31:186361001 Streptococcal sore throat NOS (disorder) ICD9CM_2006:034.0 Streptococcal sore throat A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. url:http://www.nlm.nih.gov/medlineplus/ency/article/000639.htm SNOMEDCT_2005_07_31:154302004 Streptococcal sore throat pulmonary alveolar microlithiasis DOID:12117 ICD10CM:J84.02 ICD9CM:516.2 MSH:C562405 OMIM mapping confirmed by DO. [SN]. OMIM:265100 SNOMEDCT_US_2015_03_01:196160008 SNOMEDCT_US_2015_03_01:87153008 UMLS_CUI:C0155912 disease_ontology pulmonary alveolar microlithiasis (disorder) SNOMEDCT_2005_07_31:87153008 pulmonary alveolar microlithiasis (disorder) pulmonary hemosiderosis A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. DOID:0050330 DOID:12118 ICD10CM:J84.03 ICD9CM:516.1 Idiopathic pulmonary hemosiderosis MSH:C536281 OMIM:178550 OMIM:235500 ORDO:99931 SNOMEDCT_US_2015_03_01:190848001 SNOMEDCT_US_2015_03_01:40527005 UMLS_CUI:C0020807 brown induration brown lung disease_ontology A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. url:http://en.wikipedia.org/wiki/Brown_induration url:http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis url:http://www.erj.ersjournals.com/cgi/content/full/24/1/162 CSP2005:2596-2097 brown lung ICD9CM_2006:516.1 Idiopathic pulmonary hemosiderosis hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. DOID:12119 MSH:D006486 NCI:C82892 SNOMEDCT_US_2015_03_01:190849009 SNOMEDCT_US_2015_03_01:39011001 UMLS_CUI:C0019114 disease_ontology haemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. url:http://en.wikipedia.org/wiki/Hemosiderosis pulmonary alveolar proteinosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. DOID:12120 ICD10CM:J84.01 ICD9CM:516.0 MSH:D011649 NCI:C85037 OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370 ORDO:264675 SNOMEDCT_US_2015_03_01:10501004 UMLS_CUI:C0034050 Xref MGI. disease_ontology A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. url:http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis secondary syphilitic periostitis DOID:12121 disease_ontology secondary syphilitic periostitis (disorder) true SNOMEDCT_2005_07_31:69595007 secondary syphilitic periostitis (disorder) postinflammatory pulmonary fibrosis DOID:12123 ICD10CM:J84.10 ICD9CM:515 Post-inflammatory pulmonary fibrosis (disorder) Postinflammatory pulmonary fibrosis (disorder) SNOMEDCT_US_2015_03_01:196121006 SNOMEDCT_US_2015_03_01:266368002 SNOMEDCT_US_2015_03_01:57124002 UMLS_CUI:C0175999 disease_ontology Post-inflammatory pulmonary fibrosis (disorder) SNOMEDCT_2005_07_31:266368002 Postinflammatory pulmonary fibrosis (disorder) SNOMEDCT_2005_07_31:57124002 episcleritis periodica fugax DOID:12124 Episcleritis periodica fugax (disorder) ICD10CM:H15.11 ICD9CM:379.01 SNOMEDCT_US_2015_03_01:194141004 SNOMEDCT_US_2015_03_01:31166000 UMLS_CUI:C0155351 disease_ontology Episcleritis periodica fugax (disorder) SNOMEDCT_2005_07_31:31166000 neurotrophic keratoconjunctivitis DOID:12125 ICD10CM:H16.23 ICD9CM:370.35 Neurotrophic keratoconjunctivitis (disorder) SNOMEDCT_US_2015_03_01:193777005 SNOMEDCT_US_2015_03_01:77080005 UMLS_CUI:C0155084 disease_ontology Neurotrophic keratoconjunctivitis (disorder) SNOMEDCT_2005_07_31:77080005 pica disease An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. DOID:12128 ICD9CM:307.52 MSH:D010842 NCI:C92566 SNOMEDCT_US_2015_03_01:14077003 SNOMEDCT_US_2015_03_01:154938001 SNOMEDCT_US_2015_03_01:268779001 UMLS_CUI:C0031873 disease_ontology An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. url:http://en.wikipedia.org/wiki/Pica_%28disorder%29 bulimia nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. DOID:12129 ICD10CM:F50.2 MSH:D002032 NCI:C34440 OMIM:607499 OMIM:610269 SNOMEDCT_US_2015_03_01:192013000 SNOMEDCT_US_2015_03_01:192447005 SNOMEDCT_US_2015_03_01:206939001 SNOMEDCT_US_2015_03_01:78004001 UMLS_CUI:C0006370 Xref MGI. disease_ontology hyperorexia nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. url:http://en.wikipedia.org/wiki/Bulimia_nervosa SNOMEDCT_2005_07_31:192447005 hyperorexia nervosa Tympanosclerosis of tympanic membrane and ossicles DOID:1213 Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) Tympanosclerosis involving tympanic membrane and ear ossicles disease_ontology true SNOMEDCT_2005_07_31:35100001 Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) ICD9CM_2006:385.02 Tympanosclerosis involving tympanic membrane and ear ossicles Wegener's granulomatosis An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. DOID:12132 Granulomatosis - Wegener's ICD10CM:M31.3 ICD10CM:M31.30 ICD9CM:446.4 MSH:D014890 NCI:C3444 Necrotizing respiratory granulomatosis OMIM:608710 SNOMEDCT_US_2015_03_01:155445002 SNOMEDCT_US_2015_03_01:195353004 SNOMEDCT_US_2015_03_01:23782005 SNOMEDCT_US_2015_03_01:239934006 SNOMEDCT_US_2015_03_01:266323005 SNOMEDCT_US_2015_03_01:390001000 UMLS_CUI:C0043092 Wegener granulomatosis Wegener's syndrome (disorder) disease_ontology SNOMEDCT_2005_07_31:239934006 Wegener's syndrome (disorder) MTHICD9_2006:446.4 Necrotizing respiratory granulomatosis Granulomatosis - Wegener's SNOMEDCT_2005_07_31:266323005 An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. url:http://en.wikipedia.org/wiki/Wegener%27s_granulomatosis Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). DOID:12133 Infection by Yersinia enterocolitica (disorder) Yersinia enterocolitis disease_ontology infectious disease by Yersinia enterocolitica intestinal infection due to yersinia enterocolitica true SNOMEDCT_2005_07_31:186144006 Yersinia enterocolitis A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm ICD9CM_2006:008.44 intestinal infection due to yersinia enterocolitica Infection by Yersinia enterocolitica (disorder) SNOMEDCT_2005_07_31:80960004 factor VIII deficiency An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. Congenital factor VIII disorder DOID:12134 Hemophilia A (disorder) ICD10CM:D66 ICD9CM:286.0 MSH:D006467 NCI:C27146 OMIM mapping confirmed by DO. [SN]. OMIM:134500 SNOMEDCT_US_2015_03_01:234440005 SNOMEDCT_US_2015_03_01:28293008 Subhemophilia UMLS_CUI:C0019069 disease_ontology Hemophilia A (disorder) SNOMEDCT_2005_07_31:28293008 Congenital factor VIII disorder ICD9CM_2006:286.0 MTHICD9_2006:286.0 Subhemophilia An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. sn:IEDB url:http://en.wikipedia.org/wiki/Hemophilia_A acquired factor VIII deficiency DOID:12135 acquired factor VIII deficiency disease (disorder) disease_ontology true SNOMEDCT_2005_07_31:14230004 acquired factor VIII deficiency disease (disorder) acquired coagulation factor deficiency DOID:12136 acquired coagulation factor deficiency acquired coagulation factor deficiency (disorder) acquired coagulation factor deficiency NOS (disorder) disease_ontology true SNOMEDCT_2005_07_31:191295001 acquired coagulation factor deficiency ICD9CM_2006:286.7 acquired coagulation factor deficiency SNOMEDCT_2005_07_31:25904003 acquired coagulation factor deficiency (disorder) SNOMEDCT_2005_07_31:191300004 acquired coagulation factor deficiency NOS (disorder) dysthymic disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. DOID:12139 ICD10CM:F34.1 ICD9CM:300.4 MSH:D019263 NCI:C34562 SNOMEDCT_US_2015_03_01:192384008 SNOMEDCT_US_2015_03_01:78667006 UMLS_CUI:C0013415 disease_ontology dysthymia A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. url:http://en.wikipedia.org/wiki/Mood_disorder CSP2005:2483-6681 dysthymia tympanosclerosis DOID:1214 ICD9CM:385.09 SNOMEDCT_US_2015_03_01:111540000 UMLS_CUI:C0155477 disease_ontology Chagas disease A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. American trypanosomiasis Chagas' disease DOID:0050016 DOID:0050019 DOID:0050020 DOID:12140 ICD9CM:086.2 KEGG:05142 SNOMEDCT_US_2015_03_01:186817003 SNOMEDCT_US_2015_03_01:54570006 SNOMEDCT_US_2015_03_01:94371000119107 UMLS_CUI:C0007932 chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement disease_ontology A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. url:http://en.wikipedia.org/wiki/Chagas_disease adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. DOID:12141 disease_ontology non-arthropod-borne meningitis due to adenovirus true An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. url:http://emedicine.medscape.com/article/1168529-overview url:http://virology-online.com/viruses/Adenoviruses3.htm url:http://www.cdc.gov/meningitis/about/faq.html neurogenic bladder DOID:12143 ICD9CM:596.54 MSH:D001750 NCI:C79696 Neuropathic bladder SNOMEDCT_US_2015_03_01:155032006 SNOMEDCT_US_2015_03_01:192972000 SNOMEDCT_US_2015_03_01:197883004 SNOMEDCT_US_2015_03_01:23201000 SNOMEDCT_US_2015_03_01:397732007 SNOMEDCT_US_2015_03_01:398064005 UMLS_CUI:C0005697 disease_ontology neurogenic bladder (finding) neurogenic bladder NOS neurogenic dysfunction of the urinary bladder (finding) neurogenic urinary bladder disorder ICD9CM_2006:596.54 neurogenic bladder NOS Neuropathic bladder SNOMEDCT_2005_07_31:197883004 CSP2005:3045-9211 neurogenic urinary bladder disorder SNOMEDCT_2005_07_31:398064005 neurogenic bladder (finding) Neuropathic bladder SNOMEDCT_2005_07_31:155032006 Neuropathic bladder SNOMEDCT_2005_07_31:192972000 SNOMEDCT_2005_07_31:23201000 neurogenic dysfunction of the urinary bladder (finding) SNOMEDCT_2005_07_31:397732007 neurogenic dysfunction of the urinary bladder (finding) low compliance bladder DOID:12144 ICD9CM:596.52 Low bladder compliance Low compliance bladder (disorder) SNOMEDCT_US_2015_03_01:9009001 UMLS_CUI:C0489967 disease_ontology hyperactivity of bladder hypertonic bladder hypertonicity of bladder MTHICD9_2006:596.51 hyperactivity of bladder Low compliance bladder (disorder) SNOMEDCT_2005_07_31:9009001 ICD9CM_2006:596.52 Low bladder compliance SNOMEDCT_2005_07_31:314717001 hypertonic bladder ICD9CM_2006:596.51 hypertonicity of bladder detrusor sphincter dyssynergia DOID:12145 Detrusor and sphincter dyssynergia (disorder) ICD9CM:596.55 SNOMEDCT_US_2015_03_01:236655005 UMLS_CUI:C0341747 disease_ontology Detrusor and sphincter dyssynergia (disorder) SNOMEDCT_2005_07_31:236655005 alveolar echinococcosis An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. DOID:12147 DOID:12148 DOID:2774 ICD10CM:B67.6 ICD10CM:B67.7 ICD9CM:122.7 Multilocular hydatid SNOMEDCT_US_2015_03_01:21009004 SNOMEDCT_US_2015_03_01:240816000 UMLS_CUI:C0152069 alveolococcosis disease_ontology echinococcus multilocularis infection small fox tapeworm An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm Multilocular hydatid SNOMEDCT_2005_07_31:240816000 Tympanosclerosis of tympanic membrane only DOID:1215 Tympanosclerosis involving tympanic membrane only Tympanosclerosis involving tympanic membrane only (disorder) disease_ontology true SNOMEDCT_2005_07_31:35522004 Tympanosclerosis involving tympanic membrane only (disorder) ICD9CM_2006:385.01 Tympanosclerosis involving tympanic membrane only calculus of gallbladder with acute cholecystitis, with obstruction Cholelithiasis AND acute cholecystitis with obstruction (disorder) DOID:12150 disease_ontology gallbladder calculus with acute cholecystitis and obstruction (disorder) gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) true Cholelithiasis AND acute cholecystitis with obstruction (disorder) SNOMEDCT_2005_07_31:1123004 SNOMEDCT_2005_07_31:197379007 gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) SNOMEDCT_2005_07_31:197378004 gallbladder calculus with acute cholecystitis and obstruction (disorder) currently pregnant habitual aborter DOID:12151 disease_ontology true lymphocytic choriomeningitis A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. DOID:10662 DOID:12155 ICD10CM:A87.2 ICD9CM:049.0 LCM Lymphocytic choriomeningitis virus encephalomyelitis (disorder) Lymphocytic meningitis (disorder) Lymphocytic meningoencephalitis (disorder) MSH:D008216 SNOMEDCT_US_2015_03_01:186495001 SNOMEDCT_US_2015_03_01:192668002 SNOMEDCT_US_2015_03_01:276064006 SNOMEDCT_US_2015_03_01:276817007 SNOMEDCT_US_2015_03_01:38666007 SNOMEDCT_US_2015_03_01:397961002 SNOMEDCT_US_2015_03_01:398136003 UMLS_CUI:C0024266 UMLS_CUI:C0153014 disease_ontology CSP2005:2042-5332 LCM Lymphocytic meningoencephalitis (disorder) SNOMEDCT_2005_07_31:276817007 Lymphocytic choriomeningitis virus encephalomyelitis (disorder) SNOMEDCT_2005_07_31:397961002 Lymphocytic meningitis (disorder) SNOMEDCT_2005_07_31:276064006 A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis arachnoiditis Arachnoiditis (disorder) DOID:12156 ICD10CM:G03 MSH:D001100 NCI:C37913 Other meningitis NOS SNOMEDCT_US_2015_03_01:154986008 SNOMEDCT_US_2015_03_01:267681007 SNOMEDCT_US_2015_03_01:8217007 UMLS_CUI:C0003708 disease_ontology Other meningitis NOS SNOMEDCT_2005_07_31:154986008 Other meningitis NOS SNOMEDCT_2005_07_31:267681007 Arachnoiditis (disorder) SNOMEDCT_2005_07_31:8217007 aseptic meningitis Aseptic meningitis Aseptic meningitis (disorder) DOID:12157 ICD10CM:G03.0 MSH:D008582 SNOMEDCT_US_2015_03_01:186490006 SNOMEDCT_US_2015_03_01:301770000 SNOMEDCT_US_2015_03_01:58170007 UMLS_CUI:C0025290 acute aseptic meningitis disease_ontology SNOMEDCT_2005_07_31:192672003 acute aseptic meningitis Aseptic meningitis (disorder) SNOMEDCT_2005_07_31:301770000 Aseptic meningitis SNOMEDCT_2005_07_31:186490006 Aseptic meningitis SNOMEDCT_2005_07_31:58170007 peripheral retinal degeneration DOID:12161 ICD10CM:H35.4 ICD10CM:H35.40 ICD9CM:362.6 ICD9CM:362.60 NCI:C34919 SNOMEDCT_US_2015_03_01:193393004 SNOMEDCT_US_2015_03_01:193394005 SNOMEDCT_US_2015_03_01:193398008 SNOMEDCT_US_2015_03_01:405721006 SNOMEDCT_US_2015_03_01:61536007 SNOMEDCT_US_2015_03_01:95704002 UMLS_CUI:C1320640 disease_ontology peripheral degeneration of retina (disorder) SNOMEDCT_2005_07_31:405721006 peripheral degeneration of retina (disorder) pseudoretinitis pigmentosa DOID:12162 ICD10CM:H35.45 ICD9CM:362.65 Pseudoretinitis pigmentosa (disorder) SNOMEDCT_US_2015_03_01:35545005 UMLS_CUI:C0154858 disease_ontology secondary pigmentary degeneration of retina secondary pigmentary retinal degeneration (disorder) SNOMEDCT_2005_07_31:35545005 secondary pigmentary retinal degeneration (disorder) Pseudoretinitis pigmentosa (disorder) SNOMEDCT_2005_07_31:193396007 ICD9CM_2006:362.65 secondary pigmentary degeneration of retina senile reticular retinal degeneration DOID:12163 ICD9CM:362.64 SNOMEDCT_US_2015_03_01:193395006 SNOMEDCT_US_2015_03_01:54184008 Senile reticular degeneration of retina Senile reticular retinal degeneration (disorder) UMLS_CUI:C0154857 disease_ontology SNOMEDCT_2005_07_31:54184008 Senile reticular retinal degeneration (disorder) ICD9CM_2006:362.64 Senile reticular degeneration of retina Blessig's cysts Blessig cysts DOID:12164 ICD10CM:H35.42 ICD9CM:362.62 Iwanoff's cysts Microcystoid degeneration of retina Microcystoid retinal degeneration (disorder) SNOMEDCT_US_2015_03_01:37075008 UMLS_CUI:C0154855 disease_ontology Microcystoid retinal degeneration (disorder) SNOMEDCT_2005_07_31:37075008 Iwanoff's cysts MTHICD9_2006:362.62 ICD9CM_2006:362.62 Microcystoid degeneration of retina retinal lattice degeneration DOID:12165 ICD10CM:H35.41 ICD9CM:362.63 Palisade degeneration of retina Retinal lattice degeneration (disorder) SNOMEDCT_US_2015_03_01:3577000 UMLS_CUI:C0154856 disease_ontology ICD9CM_2006:362.63 Palisade degeneration of retina Retinal lattice degeneration (disorder) SNOMEDCT_2005_07_31:3577000 cobblestone retinal degeneration DOID:12166 ICD10CM:H35.43 ICD9CM:362.61 Paving stone degeneration of retina Paving stone retinal degeneration (disorder) SNOMEDCT_US_2015_03_01:69134001 UMLS_CUI:C0154854 disease_ontology Paving stone retinal degeneration (disorder) SNOMEDCT_2005_07_31:69134001 ICD9CM_2006:362.61 Paving stone degeneration of retina secondary vitreoretinal degeneration DOID:12167 ICD10CM:H35.46 ICD9CM:362.66 SNOMEDCT_US_2015_03_01:193397003 SNOMEDCT_US_2015_03_01:60676002 UMLS_CUI:C0154859 disease_ontology secondary vitreoretinal degeneration (disorder) secondary vitreoretinal degenerations ICD9CM_2006:362.66 secondary vitreoretinal degenerations SNOMEDCT_2005_07_31:60676002 secondary vitreoretinal degeneration (disorder) ulnar nerve lesion DOID:12168 ICD10CM:G56.2 ICD10CM:G56.20 ICD9CM:354.2 Lesion of ulnar nerve Lesion of ulnar nerve (disorder) Lesion of ulnar nerve, NOS SNOMEDCT_US_2015_03_01:193132000 SNOMEDCT_US_2015_03_01:193136002 SNOMEDCT_US_2015_03_01:267599007 SNOMEDCT_US_2015_03_01:298121002 SNOMEDCT_US_2015_03_01:359834003 SNOMEDCT_US_2015_03_01:367475009 SNOMEDCT_US_2015_03_01:55802003 UMLS_CUI:C1288279 Ulnar nerve lesion (disorder) Ulnar nerve lesion NOS (disorder) Ulnar nerve lesion [Ambiguous] Ulnar nerve lesions (disorder) disease_ontology Lesion of ulnar nerve, NOS SNOMEDCT_2005_07_31:55802003 SNOMEDCT_2005_07_31:298121002 Ulnar nerve lesion [Ambiguous] ICD9CM_2006:354.2 Lesion of ulnar nerve Lesion of ulnar nerve (disorder) SNOMEDCT_2005_07_31:367475009 SNOMEDCT_2005_07_31:267599007 Ulnar nerve lesions (disorder) SNOMEDCT_2005_07_31:193136002 Ulnar nerve lesion NOS (disorder) SNOMEDCT_2005_07_31:359834003 Ulnar nerve lesion (disorder) carpal tunnel syndrome CTS - Carpal tunnel syndrome Carpal tunnel syndrome Carpal tunnel syndrome (disorder) DOID:12169 ICD10CM:G56.0 ICD10CM:G56.00 ICD9CM:354.0 MSH:D002349 Median nerve entrapment Median nerve entrapment (disorder) NCI:C34450 OMIM mapping confirmed by DO. [SN]. OMIM:115430 SNOMEDCT_US_2015_03_01:155073007 SNOMEDCT_US_2015_03_01:193126005 SNOMEDCT_US_2015_03_01:246611002 SNOMEDCT_US_2015_03_01:57406009 UMLS_CUI:C0007286 carpal tunnel median neuropathy disease_ontology Carpal tunnel syndrome ICD9CM_2006:354.0 Carpal tunnel syndrome SNOMEDCT_2005_07_31:155073007 CTS - Carpal tunnel syndrome SNOMEDCT_2005_07_31:193126005 CSP2005:2042-6577 carpal tunnel median neuropathy MTHICD9_2006:354.0 Median nerve entrapment Carpal tunnel syndrome (disorder) SNOMEDCT_2005_07_31:57406009 Median nerve entrapment (disorder) SNOMEDCT_2005_07_31:246611002 fascioloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. DOID:1217 MSH:D005213 SNOMEDCT_US_2015_03_01:69550000 UMLS_CUI:C0015655 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. url:http://en.wikipedia.org/wiki/Fascioloides_magna url:http://www.michigan.gov/dnr/1,1607,7-153-10370_12150_12220-26639--,00.html radial nerve lesion DOID:12170 ICD10CM:G56.3 ICD10CM:G56.30 ICD9CM:354.3 Lesion of radial nerve Lesion of radial nerve, NOS MSH:D020425 Radial nerve lesion NOS (disorder) Radial nerve lesions (disorder) SNOMEDCT_US_2015_03_01:16644004 SNOMEDCT_US_2015_03_01:193137006 SNOMEDCT_US_2015_03_01:193140006 UMLS_CUI:C0154744 disease_ontology Lesion of radial nerve, NOS SNOMEDCT_2005_07_31:16644004 Radial nerve lesions (disorder) SNOMEDCT_2005_07_31:193137006 Radial nerve lesion NOS (disorder) SNOMEDCT_2005_07_31:193140006 ICD9CM_2006:354.3 Lesion of radial nerve radial neuropathy DOID:12171 MSH:D020425 Radial neuropathy (disorder) SNOMEDCT_US_2015_03_01:16644004 UMLS_CUI:C0748226 disease_ontology Radial neuropathy (disorder) SNOMEDCT_2005_07_31:16644004 dyshormonogenic goiter DOID:12175 Dyshormonogenic goiter (disorder) ICD10CM:E07.1 ICD9CM:246.1 SNOMEDCT_US_2015_03_01:190304001 UMLS_CUI:C0152077 disease_ontology Dyshormonogenic goiter (disorder) SNOMEDCT_2005_07_31:190304001 goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. DOID:12176 ICD10CM:E04.9 ICD9CM:240.9 MSH:D006042 NCI:C26785 SNOMEDCT_US_2015_03_01:190232008 SNOMEDCT_US_2015_03_01:190235005 SNOMEDCT_US_2015_03_01:237568003 SNOMEDCT_US_2015_03_01:267370001 SNOMEDCT_US_2015_03_01:3716002 UMLS_CUI:C0018021 disease_ontology goitre A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. url:http://www.thyroid.org/patients/patient_brochures/goiter.html common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). CVID DOID:12177 ICD10CM:D83 ICD10CM:D83.9 ICD9CM:279.06 MSH:D017074 NCI:C26725 OMIM:240500 OMIM:607594 OMIM:613493 OMIM:613494 OMIM:613495 OMIM:613496 OMIM:614699 OMIM:614700 OMIM:615559 OMIM:615577 OMIM:615767 ORDO:1572 SNOMEDCT_US_2015_03_01:191010004 SNOMEDCT_US_2015_03_01:23238000 UMLS_CUI:C0009447 Xref MGI. OMIM mapping confirmed by DO. [SN]. acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia disease_ontology sporadic hypogammaglobulinemia MTHICD9_2006:279.06 sporadic hypogammaglobulinemia A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). url:http://emedicine.medscape.com/article/885935-overview url:http://en.wikipedia.org/wiki/Common_variable_immunodeficiency url:http://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/common-variable-immunodeficiency-cvid.html url:http://www.merck.com/mmpe/sec13/ch164/ch164g.html NCI2004_11_17:C26725 acquired agammaglobulinemia tinea corporis A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. DOID:12179 Dermatophytosis of the body (disorder) Dermatophytosis of the trunk ICD9CM:110.5 SNOMEDCT_US_2015_03_01:186994008 SNOMEDCT_US_2015_03_01:266151007 SNOMEDCT_US_2015_03_01:84849002 UMLS_CUI:C0546826 dermatophytosis of the body disease_ontology Dermatophytosis of the body (disorder) SNOMEDCT_2005_07_31:266151007 A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaPedis url:http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm Dermatophytosis of the trunk SNOMEDCT_2005_07_31:84849002 echinostomiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. DOID:1218 Echinostomiasis (disorder) ICD10CM:B66.8 Infection by Echinochasmus (disorder) MSH:D004451 SNOMEDCT_US_2015_03_01:36607007 SNOMEDCT_US_2015_03_01:52918004 UMLS_CUI:C0013514 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm Echinostomiasis (disorder) SNOMEDCT_2005_07_31:36607007 Infection by Echinochasmus (disorder) SNOMEDCT_2005_07_31:52918004 Fetal Macrosomia DOID:12180 disease_ontology fetal macrosomia true CSP2005:2403-8925 fetal macrosomia otosclerosis A labyrinthine disease characterized by an abnormal bone growth in the middle ear. DOID:12185 EFO:0004213 ICD10CM:H80.8 ICD10CM:H80.80 ICD9CM:387.8 OMIM:166800 OMIM:605727 OMIM:608244 OMIM:608484 OMIM:611571 OMIM:611572 OMIM:612096 OMIM:615589 ORDO:2794 SNOMEDCT_US_2015_03_01:194382008 SNOMEDCT_US_2015_03_01:194691004 UMLS_CUI:C0029696 Xref MGI. disease_ontology A labyrinthine disease characterized by an abnormal bone growth in the middle ear. url:http://en.wikipedia.org/wiki/Otosclerosis url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh metastatic tumor to the colon DOID:12189 disease_ontology true dicrocoeliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. DOID:1219 Dicrocoeliasis (disorder) ICD10CM:B66.2 MSH:D004011 SNOMEDCT_US_2015_03_01:8410006 UMLS_CUI:C0012102 disease due to Dicrocoeliidae (disorder) disease_ontology Dicrocoeliasis (disorder) SNOMEDCT_2005_07_31:8410006 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm SNOMEDCT_2005_07_31:105668007 disease due to Dicrocoeliidae (disorder) descending colon cancer Ca descending colon Ca descending colon (disorder) DOID:12190 ICD10CM:C18.6 ICD9CM:153.2 SNOMEDCT_US_2015_03_01:154457003 SNOMEDCT_US_2015_03_01:269536008 SNOMEDCT_US_2015_03_01:363409003 SNOMEDCT_US_2015_03_01:93771007 UMLS_CUI:C0153435 disease_ontology malignant neoplasm of left colon malignant tumor of descending colon (disorder) Ca descending colon (disorder) SNOMEDCT_2005_07_31:269536008 Ca descending colon SNOMEDCT_2005_07_31:154457003 MTHICD9_2006:153.2 malignant neoplasm of left colon SNOMEDCT_2005_07_31:363409003 malignant tumor of descending colon (disorder) splenic flexure cancer Ca splenic flexure - colon Ca splenic flexure - colon (disorder) DOID:12191 ICD10CM:C18.5 ICD9CM:153.7 SNOMEDCT_US_2015_03_01:154461009 SNOMEDCT_US_2015_03_01:269540004 SNOMEDCT_US_2015_03_01:363413005 SNOMEDCT_US_2015_03_01:94072004 UMLS_CUI:C0153440 disease_ontology malignant neoplasm of splenic flexure malignant tumor of splenic flexure (disorder) Ca splenic flexure - colon SNOMEDCT_2005_07_31:154461009 ICD9CM_2006:153.7 malignant neoplasm of splenic flexure SNOMEDCT_2005_07_31:363413005 malignant tumor of splenic flexure (disorder) Ca splenic flexure - colon (disorder) SNOMEDCT_2005_07_31:269540004 sigmoid colon cancer Ca sigmoid colon Ca sigmoid colon (disorder) DOID:12192 ICD10CM:C18.7 ICD9CM:153.3 SNOMEDCT_US_2015_03_01:154458008 SNOMEDCT_US_2015_03_01:269537004 SNOMEDCT_US_2015_03_01:363410008 SNOMEDCT_US_2015_03_01:94006002 UMLS_CUI:C0153436 disease_ontology malignant tumor of sigmoid colon (disorder) Ca sigmoid colon SNOMEDCT_2005_07_31:154458008 SNOMEDCT_2005_07_31:363410008 malignant tumor of sigmoid colon (disorder) Ca sigmoid colon (disorder) SNOMEDCT_2005_07_31:269537004 superficial keratitis DOID:12196 ICD10CM:H16.10 ICD9CM:370.20 SNOMEDCT_US_2015_03_01:193766004 SNOMEDCT_US_2015_03_01:27019000 Superficial keratitis (disorder) Superficial keratitis, unspecified UMLS_CUI:C0155074 Unspecified superficial keratitis (disorder) disease_ontology ICD9CM_2006:370.20 Superficial keratitis, unspecified SNOMEDCT_2005_07_31:27019000 Superficial keratitis (disorder) SNOMEDCT_2005_07_31:193766004 Unspecified superficial keratitis (disorder) punctate epithelial keratoconjunctivitis DOID:12197 ICD10CM:H16.14 ICD9CM:370.21 Punctate keratitis Punctate keratitis (disorder) SNOMEDCT_US_2015_03_01:193767008 SNOMEDCT_US_2015_03_01:267634006 SNOMEDCT_US_2015_03_01:416069001 SNOMEDCT_US_2015_03_01:42513006 Thygeson superficial punctate keratitis (disorder) Thygeson's superficial punctate keratitis UMLS_CUI:C0259799 disease_ontology ICD9CM_2006:370.21 Punctate keratitis MTHICD9_2006:370.21 Thygeson's superficial punctate keratitis SNOMEDCT_2005_07_31:416069001 Thygeson superficial punctate keratitis (disorder) SNOMEDCT_2005_07_31:193767008 Thygeson's superficial punctate keratitis Punctate keratitis (disorder) SNOMEDCT_2005_07_31:42513006 abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. DOID:122 abdomen neoplasm abdominal neoplasm disease_ontology neoplasm of abdomen (disorder) true tumor of abdomen (disorder) A cancer by anatomical entitiy that affects the organs in the abdominal cavity. url:http://www.wrongdiagnosis.com/a/abdominal_cancer/intro.htm SNOMEDCT_2005_07_31:128050000 neoplasm of abdomen (disorder) SNOMEDCT_2005_07_31:255060007 tumor of abdomen (disorder) MTH:003 abdominal neoplasm CSP2005:2005-4146 abdomen neoplasm catatonic schizophrenia in remission Catatonic schizophrenia in remission (disorder) Catatonic type schizophrenia, in remission DOID:12204 disease_ontology true Catatonic schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:111483008 Catatonic type schizophrenia, in remission ICD9CM_2006:295.25 dengue disease A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. DOID:0050142 DOID:12205 Dengue Fever ICD10CM:A90 ICD9CM:061 MSH:D003715 NCI:C34528 SNOMEDCT_US_2015_03_01:154345006 SNOMEDCT_US_2015_03_01:266194002 SNOMEDCT_US_2015_03_01:38362002 UMLS_CUI:C0011311 breakbone fever classic dengue classical dengue disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. url:http://www.cdc.gov/dengue/fAQFacts/index.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue CSP2005:3100-2165 breakbone fever Dengue Fever NCI2004_11_17:C34528 dengue hemorrhagic fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. DHF DOID:12206 Dengue haemorrhagic fever ICD10CM:A91 MSH:D019595 NCI:C34683 SNOMEDCT_US_2015_03_01:186598001 SNOMEDCT_US_2015_03_01:186599009 SNOMEDCT_US_2015_03_01:20927009 UMLS_CUI:C0019100 disease_ontology A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf url:http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm url:http://www.who.int/mediacentre/factsheets/fs117/en/ url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever Dengue haemorrhagic fever SNOMEDCT_2005_07_31:186598001 infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. DOID:1221 disease_ontology true A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. url:http://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. Bancroftian filariasis DOID:12210 Infection by Wuchereria bancrofti (disorder) Infection due to Wuchereria bancrofti Wuchereria bancrofti infectious disease disease_ontology true Infection due to Wuchereria bancrofti MTHICD9_2006:125.0 Infection by Wuchereria bancrofti (disorder) SNOMEDCT_2005_07_31:77947001 Bancroftian filariasis ICD9CM_2006:125.0 A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. url:http://en.wikipedia.org/wiki/Wuchereria_bancrofti filarial elephantiasis A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. Bancroftian elephantiasis (disorder) Bancroftian filarial chyluria DOID:12211 DOID:13433 Elephantiasis of eyelid (disorder) ICD10CM:B74.0 Lymphatic filariasis (disorder) MSH:D004605 SNOMEDCT_US_2015_03_01:240820001 SNOMEDCT_US_2015_03_01:240825006 SNOMEDCT_US_2015_03_01:91586009 UMLS_CUI:C0013884 disease_ontology elephantiasis of eyelid Elephantiasis of eyelid (disorder) SNOMEDCT_2005_07_31:14100003 Bancroftian filarial chyluria SNOMEDCT_2005_07_31:240825006 Lymphatic filariasis (disorder) SNOMEDCT_2005_07_31:240820001 Bancroftian elephantiasis (disorder) SNOMEDCT_2005_07_31:91586009 A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. url:http://www.who.int/mediacentre/factsheets/fs102/en/ oligohydramnios A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. DOID:12215 DOID:12595 DOID:12596 ICD10CM:O41.0 ICD10CM:O41.00 ICD9CM:658.0 MSH:D016104 NCI:C92839 Oligohydramnios - delivered (disorder) SNOMEDCT_US_2015_03_01:156190009 SNOMEDCT_US_2015_03_01:157051001 SNOMEDCT_US_2015_03_01:199652007 SNOMEDCT_US_2015_03_01:199656005 SNOMEDCT_US_2015_03_01:59566000 UMLS_CUI:C0079924 antepartum oligohydramnios delivered oligohydramnios disease_ontology A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. url:http://www.merriam-webster.com/medlineplus/oligohydramnios Oligohydramnios - delivered (disorder) SNOMEDCT_2005_07_31:199653002 Lewy body dementia A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. DOID:12217 Dementia with Lewy bodies Diffuse Lewy body disease (disorder) ICD10CM:G31.83 ICD9CM:331.82 Lewy body disease MSH:D020961 NCI:C84826 OMIM mapping confirmed by DO. [SN]. OMIM:127750 SNOMEDCT_US_2015_03_01:192808003 SNOMEDCT_US_2015_03_01:230275004 SNOMEDCT_US_2015_03_01:230276003 SNOMEDCT_US_2015_03_01:230277007 SNOMEDCT_US_2015_03_01:312991009 SNOMEDCT_US_2015_03_01:80098002 Senile dementia of the Lewy body type (disorder) UMLS_CUI:C0752347 disease_ontology Diffuse Lewy body disease (disorder) SNOMEDCT_2005_07_31:80098002 Lewy body disease SNOMEDCT_2005_07_31:230277007 Dementia with Lewy bodies ICD9CM_2006:331.82 A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. url:http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies url:http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 SNOMEDCT_2005_07_31:312991009 Senile dementia of the Lewy body type (disorder) cartilage disease Cartilage disorder Chondropathy (disorder) DOID:1222 ICD10CM:M91-M94 ICD10CM:M94.9 MSH:D002357 SNOMEDCT_US_2015_03_01:203526003 SNOMEDCT_US_2015_03_01:203908009 SNOMEDCT_US_2015_03_01:203914002 SNOMEDCT_US_2015_03_01:268062001 SNOMEDCT_US_2015_03_01:268126004 SNOMEDCT_US_2015_03_01:308148004 SNOMEDCT_US_2015_03_01:367355001 SNOMEDCT_US_2015_03_01:50927007 UMLS_CUI:C0007302 disease_ontology Chondropathy (disorder) SNOMEDCT_2005_07_31:367355001 Cartilage disorder SNOMEDCT_2005_07_31:268062001 Synovial, tendon or bursa disorder DOID:12221 Synovial, tendon or bursa disorder NOS (disorder) Unspecified disorder of synovium, tendon, and bursa disease_ontology true ICD9CM_2006:727.9 Unspecified disorder of synovium, tendon, and bursa SNOMEDCT_2005_07_31:203006006 Synovial, tendon or bursa disorder NOS (disorder) specific bursitis often of occupational origin DOID:12223 ICD9CM:727.2 SNOMEDCT_US_2015_03_01:42812006 Specific bursitides often of occupational origin Specific bursitis often of occupational origin (disorder) UMLS_CUI:C0158332 disease_ontology ICD9CM_2006:727.2 Specific bursitides often of occupational origin SNOMEDCT_2005_07_31:42812006 Specific bursitis often of occupational origin (disorder) calcium deposits in tendon and bursa DOID:12224 disease_ontology true Plica syndrome DOID:12225 ICD10CM:M67.5 ICD9CM:727.83 UMLS_CUI:C0878705 disease_ontology hearing disease Auditory dysfunction (disorder) DOID:12226 Hearing disorder Hearing disorder (finding) Hearing problem (finding) disease_ontology disorder of auditory system (disorder) hearing disorder true SNOMEDCT_2005_07_31:362966006 disorder of auditory system (disorder) Hearing disorder (finding) SNOMEDCT_2005_07_31:128540005 Hearing problem (finding) SNOMEDCT_2005_07_31:300228004 CSP2005:0977-5687 hearing disorder Hearing disorder NCI2004_11_17:C3078 Auditory dysfunction (disorder) SNOMEDCT_2005_07_31:362989003 secondary malignant neoplasm of large intestine and rectum DOID:12228 disease_ontology secondary malignant neoplasm of large intestine and rectum (disorder) secondary malignant neoplasm of large intestine or rectum NOS (disorder) true SNOMEDCT_2005_07_31:188440001 secondary malignant neoplasm of large intestine and rectum (disorder) SNOMEDCT_2005_07_31:188444005 secondary malignant neoplasm of large intestine or rectum NOS (disorder) cascade stomach Cascade stomach (disorder) DOID:12234 Hourglass stricture or stenosis of stomach ICD10CM:K31.2 ICD9CM:537.6 SNOMEDCT_US_2015_03_01:54051005 UMLS_CUI:C0267183 disease_ontology Hourglass stricture or stenosis of stomach ICD9CM_2006:537.6 Cascade stomach (disorder) SNOMEDCT_2005_07_31:54051005 primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. DOID:12236 DOID:1851 EFO:0004267 ICD10CM:K74.3 ICD10CM:K74.5 ICD9CM:571.6 MSH:D008105 NCI:C27167 NCI:C51225 OMIM:109720 OMIM:613007 OMIM:613008 OMIM:614220 OMIM:614221 ORDO:186 SNOMEDCT_US_2015_03_01:155815006 SNOMEDCT_US_2015_03_01:1761006 SNOMEDCT_US_2015_03_01:197311004 SNOMEDCT_US_2015_03_01:266540000 SNOMEDCT_US_2015_03_01:31712002 UMLS_CUI:C0008312 UMLS_CUI:C0023892 Xref MGI. OMIM mapping confirmed by DO. [SN]. biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis disease_ontology SNOMEDCT_2005_07_31:1761006 chronic nonsuppurative destructive cholangitis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis url:http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh bile reflux DOID:12237 MSH:D001655 UMLS_CUI:C0005403 disease_ontology anal margin squamous cell carcinoma DOID:12239 ICD10CM:C44.520 NCI:C6925 Perianal skin squamous cell carcinoma SNOMEDCT_US_2015_03_01:255084004 UMLS_CUI:C1412037 disease_ontology squamous cell carcinoma of anal margin squamous cell carcinoma of anal margin (disorder) NCI2004_11_17:C6925 Perianal skin squamous cell carcinoma SNOMEDCT_2005_07_31:255084004 squamous cell carcinoma of anal margin (disorder) beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. DOID:12241 ICD10CM:D56.1 ICD9CM:282.44 MSH:D017086 NCI:C34375 OMIM:187550 OMIM:603902 OMIM:613985 ORDO:848 SNOMEDCT_US_2015_03_01:191190000 SNOMEDCT_US_2015_03_01:65959000 SNOMEDCT_US_2015_03_01:79592006 UMLS_CUI:C0005283 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. url:http://en.wikipedia.org/wiki/Beta_thalassemia histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. DOID:12245 Histoplasma capsulatum endocarditis Histoplasma capsulatum with endocarditis (disorder) Histoplasmosis with endocarditis (disorder) disease_ontology true Histoplasmosis with endocarditis (disorder) SNOMEDCT_2005_07_31:187060003 Histoplasma capsulatum endocarditis ICD9CM_2006:115.04 A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview Histoplasma capsulatum with endocarditis (disorder) SNOMEDCT_2005_07_31:187041005 histoplasmosis meningitis DOID:12246 Histoplasmosis with meningitis (disorder) ICD9CM:115.91 SNOMEDCT_US_2015_03_01:187057005 UMLS_CUI:C0153277 disease_ontology Histoplasmosis with meningitis (disorder) SNOMEDCT_2005_07_31:187057005 hypoaldosteronism Aldosterone deficiency (disorder) DOID:12251 disease_ontology hypoaldosteronism true Aldosterone deficiency (disorder) SNOMEDCT_2005_07_31:60086000 CSP2005:0060-4670 hypoaldosteronism Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. Cushing syndrome DOID:12252 ICD10CM:E24 ICD10CM:E24.9 ICD9CM:255.0 MSH:D003480 NCI:C2969 SNOMEDCT_US_2015_03_01:154705004 SNOMEDCT_US_2015_03_01:190505004 SNOMEDCT_US_2015_03_01:47270006 Suprarenogenic syndrome UMLS_CUI:C0010481 disease_ontology pituitary basophilism SNOMEDCT_2005_07_31:47270006 Suprarenogenic syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. URL:http://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome CSP2005:0060-4199 pituitary basophilism testicular lymphoma DOID:12253 NCI:C6810 SNOMEDCT_US_2015_03_01:277664004 UMLS_CUI:C0349644 disease_ontology lymphoma of the testis malignant lymphoma of testis (disorder) testicular Lymphoma SNOMEDCT_2005_07_31:277664004 malignant lymphoma of testis (disorder) NCI2004_11_17:C6810 testicular Lymphoma metastatic tumor to the testis DOID:12254 disease_ontology metastatic neoplasm to the testis secondary malignant neoplasm of testis (disorder) true NCI2004_11_17:C4584 metastatic neoplasm to the testis SNOMEDCT_2005_07_31:94623007 secondary malignant neoplasm of testis (disorder) congenital adrenal hyperplasia Congenital Adrenal hyperplasia Congenital adrenal hyperplasia (disorder) Congenital adrenal hyperplasia, NOS DOID:12255 congenital adrenal hyperplasia disease_ontology true Congenital Adrenal hyperplasia NCI2004_11_17:C34360 Congenital adrenal hyperplasia, NOS SNOMEDCT_2005_07_31:27037004 CSP2005:0060-3730 congenital adrenal hyperplasia Congenital adrenal hyperplasia (disorder) SNOMEDCT_2005_07_31:237751000 adrenogenital disease DOID:12256 disease_ontology true medulloadrenal hyperfunction DOID:12257 ICD10CM:E27.5 ICD9CM:255.6 Medulloadrenal hyperfunction (disorder) SNOMEDCT_US_2015_03_01:111565003 UMLS_CUI:C0154206 disease_ontology Medulloadrenal hyperfunction (disorder) SNOMEDCT_2005_07_31:111565003 acquired factor IX deficiency DOID:12258 acquired factor IX deficiency disease (disorder) disease_ontology true SNOMEDCT_2005_07_31:12153008 acquired factor IX deficiency disease (disorder) hemophilia B An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. Congenital factor IX deficiency Congenital factor IX disorder DOID:12259 Factor IX deficiency Hemophilia B (disorder) ICD10CM:D67 ICD9CM:286.1 MSH:D002836 NCI:C26721 OMIM mapping confirmed by DO. [SN]. OMIM:306900 SNOMEDCT_US_2015_03_01:154817006 SNOMEDCT_US_2015_03_01:234443007 SNOMEDCT_US_2015_03_01:41788008 UMLS_CUI:C0008533 deficiency, functional factor IX disease_ontology factor IX deficiency Congenital factor IX deficiency SNOMEDCT_2005_07_31:154817006 Hemophilia B (disorder) SNOMEDCT_2005_07_31:41788008 Factor IX deficiency NCI2004_11_17:C26721 An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm MTHICD9_2006:286.1 deficiency, functional factor IX Factor IX deficiency SNOMEDCT_2005_07_31:234443007 Congenital factor IX disorder ICD9CM_2006:286.1 CSP2005:0438-3499 factor IX deficiency chronic salpingo-oophoritis DOID:12265 ICD10CM:N70.1 ICD10CM:N70.13 ICD9CM:614.1 SNOMEDCT_US_2015_03_01:155970008 SNOMEDCT_US_2015_03_01:198140009 SNOMEDCT_US_2015_03_01:198142001 SNOMEDCT_US_2015_03_01:198146003 SNOMEDCT_US_2015_03_01:266649009 UMLS_CUI:C0156328 chronic salpingitis and oophoritis chronic salpingitis and oophoritis (disorder) chronic salpingitis and oophoritis NOS (disorder) chronic salpingitis/oophoritis chronic salpingo-oophoritis (disorder) disease_ontology SNOMEDCT_2005_07_31:266649009 chronic salpingitis/oophoritis ICD9CM_2006:614.1 chronic salpingitis and oophoritis SNOMEDCT_2005_07_31:155970008 chronic salpingitis/oophoritis SNOMEDCT_2005_07_31:198140009 chronic salpingitis and oophoritis (disorder) SNOMEDCT_2005_07_31:198146003 chronic salpingitis and oophoritis NOS (disorder) SNOMEDCT_2005_07_31:198142001 chronic salpingo-oophoritis (disorder) eclampsia with delivery DOID:12268 disease_ontology true Toxemia with convulsions complicating pregnancy, childbirth or the puerperium DOID:12269 disease_ontology true neutropenia DOID:1227 ICD10CM:D70 ICD10CM:D70.9 ICD9CM:288.0 ICD9CM:288.00 MSH:D009503 SNOMEDCT_US_2015_03_01:142928004 SNOMEDCT_US_2015_03_01:191336001 SNOMEDCT_US_2015_03_01:303011007 SNOMEDCT_US_2015_03_01:72885007 UMLS_CUI:C0027947 disease_ontology coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. DOID:12270 ICD10CM:Q13.0 MSH:D003103 NCI:C98877 OMIM:120200 OMIM:120300 OMIM:216820 ORDO:194 ORDO:98945 SNOMEDCT_US_2015_03_01:92828000 SNOMEDCT_US_2015_03_01:93390002 UMLS_CUI:C0009363 Xref MGI. OMIM mapping confirmed by DO. [SN]. coloboma of eye coloboma of macula congenital ocular coloboma disease_ontology An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. url:http://en.wikipedia.org/wiki/Coloboma url:http://ghr.nlm.nih.gov/condition/coloboma aniridia Aniridia (disorder) Aplasia of iris (disorder) DOID:12271 ICD10CM:Q13.1 ICD9CM:743.45 MSH:D015783 NCI:C84563 OMIM mapping confirmed by DO. [SN]. OMIM:106210 SNOMEDCT_US_2015_03_01:204161008 SNOMEDCT_US_2015_03_01:69278003 UMLS_CUI:C0003076 disease_ontology Aplasia of iris (disorder) SNOMEDCT_2005_07_31:204161008 Aniridia (disorder) SNOMEDCT_2005_07_31:69278003 anisometropia CSP:1116-1678 DOID:12273 ICD10CM:H52.31 ICD9CM:367.31 MSH:D015858 SNOMEDCT_US_2015_03_01:3289004 UMLS_CUI:C0003081 disease_ontology anisometropia and aniseikonia Anisometropia and aniseikonia (disorder) Anisometropia or aniseikonia NOS (disorder) DOID:12274 disease_ontology true Anisometropia and aniseikonia (disorder) SNOMEDCT_2005_07_31:193628007 Anisometropia or aniseikonia NOS (disorder) SNOMEDCT_2005_07_31:193629004 cutaneous diphtheria A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. Cutaneous Diphtheria Cutaneous diphtheria (disorder) DOID:12275 ICD10CM:A36.3 ICD9CM:032.85 NCI:C34544 SNOMEDCT_US_2015_03_01:18901009 UMLS_CUI:C0012555 disease_ontology Cutaneous diphtheria (disorder) SNOMEDCT_2005_07_31:18901009 Cutaneous Diphtheria NCI2004_11_17:C34544 A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. url:http://en.wikipedia.org/wiki/Diphtheria url:http://www.merck.com/mmpe/sec14/ch172/ch172c.html url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 malignant tumor of undescended testis DOID:12276 ICD10CM:C62.0 ICD9CM:186.0 SNOMEDCT_US_2015_03_01:188219004 SNOMEDCT_US_2015_03_01:188221009 SNOMEDCT_US_2015_03_01:188224001 SNOMEDCT_US_2015_03_01:94113004 UMLS_CUI:C0153595 disease_ontology malignant neoplasm of retained testis malignant neoplasm of undescended testis malignant neoplasm of undescended testis NOS (disorder) malignant tumor of retained testis (disorder) malignant tumor of undescended testis (disorder) SNOMEDCT_2005_07_31:188219004 malignant tumor of undescended testis (disorder) MTHICD9_2006:186.0 malignant neoplasm of retained testis SNOMEDCT_2005_07_31:94113004 malignant neoplasm of undescended testis SNOMEDCT_2005_07_31:188224001 malignant neoplasm of undescended testis NOS (disorder) SNOMEDCT_2005_07_31:188221009 malignant tumor of retained testis (disorder) ICD9CM_2006:186.0 malignant neoplasm of undescended testis paranoid type schizophrenia in remission DOID:1228 disease_ontology true femoral vein thrombophlebitis DOID:12282 ICD10CM:I80.1 ICD9CM:451.11 Phlebitis and thrombophlebitis of femoral vein (deep) (superficial) SNOMEDCT_US_2015_03_01:1748006 SNOMEDCT_US_2015_03_01:195410000 Thrombophlebitis of deep femoral vein (disorder) Thrombophlebitis of the femoral vein (disorder) UMLS_CUI:C0265066 disease_ontology SNOMEDCT_2005_07_31:1748006 Thrombophlebitis of deep femoral vein (disorder) SNOMEDCT_2005_07_31:195410000 Thrombophlebitis of the femoral vein (disorder) ICD9CM_2006:451.11 Phlebitis and thrombophlebitis of femoral vein (deep) (superficial) maternal pyrexia in labor DOID:12284 disease_ontology true testicular leukemia DOID:12286 NCI:C9277 UMLS_CUI:C1336711 disease_ontology Crimean-Congo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever [CHF Congo virus] DOID:12287 ICD10CM:A98.0 ICD9CM:065.0 MSH:D006479 NCI:C34682 SNOMEDCT_US_2015_03_01:43489008 UMLS_CUI:C0019099 disease_ontology CHF Congo virus MTHICD9_2006:065.0 Crimean hemorrhagic fever [CHF Congo virus] ICD9CM_2006:065.0 Congo-Crimean Hemorrhagic Fever NCI2004_11_17:C34682 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm url:http://www.who.int/mediacentre/factsheets/fs208/en/ paranoid schizophrenia A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. DOID:11238 DOID:1229 DOID:1230 ICD10CM:F20.0 ICD9CM:295.3 ICD9CM:295.30 ICD9CM:295.31 ICD9CM:295.32 MSH:D012563 NCI:C35006 Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia SNOMEDCT_US_2015_03_01:154865007 SNOMEDCT_US_2015_03_01:154869001 SNOMEDCT_US_2015_03_01:191551006 SNOMEDCT_US_2015_03_01:191553009 SNOMEDCT_US_2015_03_01:191557005 SNOMEDCT_US_2015_03_01:192319007 SNOMEDCT_US_2015_03_01:192330005 SNOMEDCT_US_2015_03_01:268747005 SNOMEDCT_US_2015_03_01:268748000 SNOMEDCT_US_2015_03_01:31658008 SNOMEDCT_US_2015_03_01:64905009 UMLS_CUI:C0036349 UMLS_CUI:C0154354 UMLS_CUI:C0270398 chronic paranoid schizophrenia disease_ontology paranoid type schizophrenia subchronic state Paraphrenia - late SNOMEDCT_2005_07_31:192330005 MTHICD9_2006:295.3 Paraphrenic schizophrenia A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. url:http://en.wikipedia.org/wiki/Paranoid_schizophrenia url:http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm ICD9CM_2006:295.3 Paranoid type schizophrenia recurrent malignant endocervical neoplasm DOID:12292 disease_ontology true atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. Atypical depression DOID:12294 ICD10CM:F32.8 ICD9CM:296.82 SNOMEDCT_US_2015_03_01:191659001 SNOMEDCT_US_2015_03_01:192371004 SNOMEDCT_US_2015_03_01:277538003 UMLS_CUI:C0154437 disease_ontology A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. url:http://en.wikipedia.org/wiki/Mood_disorder Atypical depression SNOMEDCT_2005_07_31:192371004 Vogt-Koyanagi-Harada disease A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. DOID:12297 Harada's disease ICD10CM:H20.82 ICD10CM:H30.81 ICD9CM:363.22 ICD9CM:364.24 MSH:D014607 NCI:C85218 SNOMEDCT_US_2015_03_01:193453003 SNOMEDCT_US_2015_03_01:193497004 SNOMEDCT_US_2015_03_01:44923005 SNOMEDCT_US_2015_03_01:47230004 UMLS_CUI:C0042170 Vogt-Koyanagi syndrome Vogt-Koyanagi-Harada disease (disorder) disease_ontology uveomeningoencephalitic syndrome Harada's disease ICD9CM_2006:363.22 ICD9CM_2006:364.24 Vogt-Koyanagi syndrome A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. ls:IEDB url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome SNOMEDCT_2005_07_31:193497004 Vogt-Koyanagi-Harada disease (disorder) intrahepatic gall duct cancer Ca intrahepatic bile ducts Ca intrahepatic bile ducts (disorder) DOID:12298 ICD9CM:155.1 SNOMEDCT_US_2015_03_01:154471006 SNOMEDCT_US_2015_03_01:187772002 SNOMEDCT_US_2015_03_01:187775000 SNOMEDCT_US_2015_03_01:187777008 SNOMEDCT_US_2015_03_01:187778003 SNOMEDCT_US_2015_03_01:269549003 SNOMEDCT_US_2015_03_01:93840005 UMLS_CUI:C0546835 disease_ontology malignant neoplasm of intrahepatic bile ducts malignant neoplasm of intrahepatic bile ducts NOS (disorder) malignant neoplasm of intrahepatic biliary passages malignant neoplasm of intrahepatic biliary passages (disorder) malignant neoplasm of intrahepatic gall duct (disorder) Ca intrahepatic bile ducts (disorder) SNOMEDCT_2005_07_31:269549003 SNOMEDCT_2005_07_31:187777008 malignant neoplasm of intrahepatic gall duct (disorder) SNOMEDCT_2005_07_31:93840005 malignant neoplasm of intrahepatic bile ducts SNOMEDCT_2005_07_31:187775000 malignant neoplasm of intrahepatic biliary passages (disorder) SNOMEDCT_2005_07_31:187778003 malignant neoplasm of intrahepatic bile ducts NOS (disorder) MTHICD9_2006:155.1 malignant neoplasm of intrahepatic biliary passages Ca intrahepatic bile ducts SNOMEDCT_2005_07_31:154471006 ICD9CM_2006:155.1 malignant neoplasm of intrahepatic bile ducts SNOMEDCT_2005_07_31:187772002 malignant neoplasm of intrahepatic bile ducts speckled lentiginous nevus DOID:12301 Naevus spilus Speckled lentiginous naevus disease_ontology nevus spilus (disorder) true SNOMEDCT_2005_07_31:398660000 nevus spilus (disorder) SNOMEDCT_2005_07_31:75534002 Speckled lentiginous naevus Naevus spilus SNOMEDCT_2005_07_31:254814003 diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. DOID:12302 Faucial Diphtheria Faucial diphtheria Faucial diphtheria (disorder) disease_ontology true A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. url:http://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf Faucial Diphtheria NCI2004_11_17:C34545 Faucial diphtheria (disorder) SNOMEDCT_2005_07_31:3419005 Faucial diphtheria ICD9CM_2006:032.0 conjunctival pigmentation Conjunctival pigmentation (disorder) Conjunctival pigmentations DOID:12304 ICD10CM:H11.13 ICD9CM:372.55 SNOMEDCT_US_2015_03_01:193888007 SNOMEDCT_US_2015_03_01:267645009 SNOMEDCT_US_2015_03_01:66081003 UMLS_CUI:C0155163 disease_ontology Conjunctival pigmentations SNOMEDCT_2005_07_31:193888007 Conjunctival pigmentation (disorder) SNOMEDCT_2005_07_31:66081003 Conjunctival pigmentations ICD9CM_2006:372.55 Bloch-Sulzberger syndrome DOID:12305 ICD10CM:Q82.3 Incontinentia pigmenti (disorder) Incontinentia pigmenti syndrome (disorder) MSH:D007184 NCI:C84787 OMIM mapping confirmed by DO. [SN]. OMIM:308300 SNOMEDCT_US_2015_03_01:205567005 SNOMEDCT_US_2015_03_01:367520004 SNOMEDCT_US_2015_03_01:806001 UMLS_CUI:C0021171 disease_ontology Incontinentia pigmenti (disorder) SNOMEDCT_2005_07_31:205567005 Incontinentia pigmenti syndrome (disorder) SNOMEDCT_2005_07_31:367520004 vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. DOID:12306 EFO:0004208 ICD10CM:L80 ICD9CM:709.01 MSH:D014820 NCI:C26915 OMIM mapping confirmed by DO. [LS]. OMIM:193200 SNOMEDCT_US_2015_03_01:156437000 SNOMEDCT_US_2015_03_01:56727007 UMLS_CUI:C0042900 disease_ontology A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. ls:IEDB url:http://en.wikipedia.org/wiki/Vitiligo anterior corneal pigmentation Anterior corneal pigmentation (disorder) Anterior corneal pigmentations Anterior corneal pigmentations (disorder) DOID:12307 ICD10CM:H18.01 ICD9CM:371.11 SNOMEDCT_US_2015_03_01:18377001 SNOMEDCT_US_2015_03_01:193805008 SNOMEDCT_US_2015_03_01:270489003 UMLS_CUI:C0155104 disease_ontology Anterior corneal pigmentations ICD9CM_2006:371.11 Anterior corneal pigmentations (disorder) SNOMEDCT_2005_07_31:270489003 Anterior corneal pigmentations SNOMEDCT_2005_07_31:193805008 Anterior corneal pigmentation (disorder) SNOMEDCT_2005_07_31:18377001 Dubin-Johnson syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. DOID:12308 Dubin Johnson syndrome ICD10CM:E80.6 MSH:D007566 NCI:C34741 OMIM mapping confirmed by DO. [SN]. OMIM:237500 SNOMEDCT_US_2015_03_01:44553005 UMLS_CUI:C0022350 chronic idiopathic jaundice disease_ontology CSP2005:1654-1020 Dubin Johnson syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. url:http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome urticaria pigmentosa DOID:12309 ICD10CM:Q82.2 MSH:D014582 NCI:C3433 OMIM mapping confirmed by DO. [LS]. OMIM:154800 SNOMEDCT_US_2015_03_01:205566001 SNOMEDCT_US_2015_03_01:703828003 SNOMEDCT_US_2015_03_01:78745000 UMLS_CUI:C0042111 UP/MPCM disease_ontology NCI2004_11_17:C3433 UP/MPCM chronic schizophrenia DOID:1231 chronic Schizophrenia chronic schizophrenia (disorder) disease_ontology true NCI2004_11_17:C35270 chronic Schizophrenia SNOMEDCT_2005_07_31:83746006 chronic schizophrenia (disorder) stromal corneal pigmentation DOID:12311 ICD10CM:H18.06 ICD9CM:371.12 SNOMEDCT_US_2015_03_01:55031000 Stromal corneal pigmentation (disorder) Stromal corneal pigmentations UMLS_CUI:C0155105 disease_ontology SNOMEDCT_2005_07_31:55031000 Stromal corneal pigmentation (disorder) ICD9CM_2006:371.12 Stromal corneal pigmentations corneal granular dystrophy DOID:12318 ICD10CM:H18.53 ICD9CM:371.53 MSH:D003317 NCI:C34651 SNOMEDCT_US_2015_03_01:45283008 UMLS_CUI:C0018179 disease_ontology granular Corneal Dystrophy granular corneal dystrophy granular corneal dystrophy (disorder) ICD9CM_2006:371.53 granular corneal dystrophy NCI2004_11_17:C34651 granular Corneal Dystrophy SNOMEDCT_2005_07_31:45283008 granular corneal dystrophy (disorder) paranoid type schizophrenia subchronic state with acute exacerbation DOID:1232 disease_ontology true cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. Cough variant asthma (disorder) DOID:12323 ICD10CM:J45.991 ICD9CM:493.82 SNOMEDCT_US_2015_03_01:409663006 UMLS_CUI:C0694548 disease_ontology An asthma that is characterized by chronic nonproductive cough without shortness of breath. url:http://www.aaaai.org/patients/topicofthemonth/0107/ url:http://www.ncbi.nlm.nih.gov/pubmed/19272144 Cough variant asthma (disorder) SNOMEDCT_2005_07_31:409663006 transsexuality with homosexual history DOID:12324 Trans-sexualism with homosexual history Transsexuality with homosexual history (disorder) disease_ontology true SNOMEDCT_2005_07_31:191784008 Transsexuality with homosexual history (disorder) ICD9CM_2006:302.52 Trans-sexualism with homosexual history kyphoscoliotic heart disease DOID:12325 ICD10CM:I27.1 ICD9CM:416.1 Kyphoscoliotic heart disease (disorder) SNOMEDCT_US_2015_03_01:194886003 SNOMEDCT_US_2015_03_01:45650007 UMLS_CUI:C0152102 disease_ontology Kyphoscoliotic heart disease (disorder) SNOMEDCT_2005_07_31:45650007 chronic pulmonary heart disease DOID:12326 ICD9CM:416.8 SNOMEDCT_US_2015_03_01:194887007 SNOMEDCT_US_2015_03_01:194889005 UMLS_CUI:C0155673 disease_ontology marasmus DOID:12328 ICD10CM:E41 ICD9CM:261 MSH:D011502 Nutritional atrophy Nutritional marasmus Nutritional marasmus (disorder) SNOMEDCT_US_2015_03_01:154730001 SNOMEDCT_US_2015_03_01:190599003 SNOMEDCT_US_2015_03_01:267495004 SNOMEDCT_US_2015_03_01:29740003 UMLS_CUI:C0086588 disease_ontology Nutritional marasmus SNOMEDCT_2005_07_31:190599003 MTHICD9_2006:261 Nutritional atrophy Nutritional marasmus (disorder) SNOMEDCT_2005_07_31:29740003 ICD9CM_2006:261 Nutritional marasmus transvestism DOID:1233 Dual-role transvestism Fetishistic transvestism (disorder) ICD10CM:F64.1 ICD10CM:F65.1 ICD9CM:302.3 MSH:D014190 NCI:C94359 SNOMEDCT_US_2015_03_01:154907002 SNOMEDCT_US_2015_03_01:191780004 SNOMEDCT_US_2015_03_01:192509002 SNOMEDCT_US_2015_03_01:248108005 SNOMEDCT_US_2015_03_01:268763002 SNOMEDCT_US_2015_03_01:472948001 SNOMEDCT_US_2015_03_01:472981000 SNOMEDCT_US_2015_03_01:472989003 SNOMEDCT_US_2015_03_01:63495002 Transvestic fetishism UMLS_CUI:C0040774 cross dresser disease_ontology ICD9CM_2006:302.3 Transvestic fetishism Dual-role transvestism SNOMEDCT_2005_07_31:248108005 Fetishistic transvestism (disorder) SNOMEDCT_2005_07_31:63495002 CSP2005:4008-0087 cross dresser hematocele of tunica vaginalis testis DOID:12332 Hematocele NOS, male MSH:D006398 SNOMEDCT_US_2015_03_01:66259004 UMLS_CUI:C0018931 disease_ontology male hematocele (disorder) Hematocele NOS, male MTHICD9_2006:608.83 SNOMEDCT_2005_07_31:66259004 male hematocele (disorder) male genital organ stricture DOID:12333 ICD9CM:608.85 SNOMEDCT_US_2015_03_01:198064007 SNOMEDCT_US_2015_03_01:198067000 Stricture of male genital organs UMLS_CUI:C0156316 disease_ontology male genital organ stricture (disorder) male genital organ stricture NOS (disorder) SNOMEDCT_2005_07_31:198067000 male genital organ stricture NOS (disorder) SNOMEDCT_2005_07_31:198064007 male genital organ stricture (disorder) ICD9CM_2006:608.85 Stricture of male genital organs male genital organ vascular disease DOID:12335 ICD10CM:N50.1 ICD9CM:608.83 SNOMEDCT_US_2015_03_01:198057005 UMLS_CUI:C0042374 disease_ontology male genital organ vascular disease (disorder) vascular disorder of male genital organs SNOMEDCT_2005_07_31:198057005 male genital organ vascular disease (disorder) ICD9CM_2006:608.83 vascular disorder of male genital organs male infertility DOID:12336 ICD10CM:N46 ICD10CM:N46.9 ICD9CM:606 ICD9CM:606.9 MSH:D007248 SNOMEDCT_US_2015_03_01:155924001 SNOMEDCT_US_2015_03_01:198018002 SNOMEDCT_US_2015_03_01:2904007 UMLS_CUI:C0021364 disease_ontology varicocele DOID:12337 ICD10CM:I86.1 ICD9CM:456.4 MSH:D014646 SNOMEDCT_US_2015_03_01:155480003 SNOMEDCT_US_2015_03_01:195480007 SNOMEDCT_US_2015_03_01:46871008 SNOMEDCT_US_2015_03_01:51070004 Scrotal varices UMLS_CUI:C0042341 disease_ontology ICD9CM_2006:456.4 Scrotal varices redundant prepuce and phimosis DOID:12338 disease_ontology true retroperitoneal lymphoma DOID:12339 NCI:C7353 UMLS_CUI:C1335779 disease_ontology gender identity disorder A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. DOID:10827 DOID:1234 DOID:13350 ICD10CM:F64.2 ICD9CM:302.6 ICD9CM:302.8 ICD9CM:302.85 ICD9CM:302.89 SNOMEDCT_US_2015_03_01:5095008 UMLS_CUI:C0029825 UMLS_CUI:C0154467 UMLS_CUI:C0236802 disease_ontology A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. url:http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm retroperitoneal sarcoma A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. DOID:12341 NCI:C4832 SNOMEDCT_US_2015_03_01:307219002 UMLS_CUI:C0585129 disease_ontology retroperitoneal sarcoma (disorder) SNOMEDCT_2005_07_31:307219002 retroperitoneal sarcoma (disorder) A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. url:http://en.wikipedia.org/wiki/Retroperitoneal_space url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ retroperitoneum carcinoma DOID:12342 NCI:C7352 UMLS_CUI:C0948749 carcinoma of Retroperitoneum carcinoma of the retroperitoneum disease_ontology NCI2004_11_17:C7352 carcinoma of Retroperitoneum hyperkinetic heart syndrome DOID:12346 disease_ontology hyperkinetic heart disease true ICD9CM_2006:429.82 hyperkinetic heart disease osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. DOID:12347 DOID:14708 Fragilitas ossium ICD10CM:Q78.0 ICD9CM:756.51 Lobstein's syndrome MSH:D010013 NCI:C26837 NCI:C99003 OMIM:166200 OMIM:166210 OMIM:166220 OMIM:166240 OMIM:259420 OMIM:259440 OMIM:610682 OMIM:610854 OMIM:610915 OMIM:610967 OMIM:610968 OMIM:613848 OMIM:613849 OMIM:613982 OMIM:614856 OMIM:615066 OMIM:615220 ORDO:666 Osteopsathyrosis SNOMEDCT_US_2015_03_01:157008000 SNOMEDCT_US_2015_03_01:205492005 SNOMEDCT_US_2015_03_01:205493000 SNOMEDCT_US_2015_03_01:205494006 SNOMEDCT_US_2015_03_01:205498009 SNOMEDCT_US_2015_03_01:254105005 SNOMEDCT_US_2015_03_01:254106006 SNOMEDCT_US_2015_03_01:254107002 SNOMEDCT_US_2015_03_01:254108007 SNOMEDCT_US_2015_03_01:254109004 SNOMEDCT_US_2015_03_01:268352002 SNOMEDCT_US_2015_03_01:3508009 SNOMEDCT_US_2015_03_01:385482004 SNOMEDCT_US_2015_03_01:78314001 UMLS_CUI:C0023931 UMLS_CUI:C0029434 Vrolik's disease Xref MGI. OMIM mapping confirmed by DO. [SN]. brittle bone disease disease_ontology MTHICD9_2006:756.51 Osteopsathyrosis CSP2005:1849-7175 brittle bone disease Lobstein's syndrome SNOMEDCT_2005_07_31:205492005 SNOMEDCT_2005_07_31:205492005 Vrolik's disease Fragilitas ossium SNOMEDCT_2005_07_31:157008000 An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. url:http://emedicine.medscape.com/article/947588-overview url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051 url:http://osteogenesisimperfecta.org/ url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm url:http://www.oif.org/site/PageServer primary eye hypotony DOID:12349 ICD10CM:H44.44 ICD9CM:360.31 SNOMEDCT_US_2015_03_01:2251002 UMLS_CUI:C0154782 disease_ontology primary hypotony of eye (disorder) SNOMEDCT_2005_07_31:2251002 primary hypotony of eye (disorder) fetishism DOID:1235 ICD10CM:F65.0 ICD9CM:302.81 MSH:D005329 NCI:C94353 SNOMEDCT_US_2015_03_01:192513009 SNOMEDCT_US_2015_03_01:59174009 UMLS_CUI:C0015957 disease_ontology alcoholic hepatitis Alcoholic Hepatitis Alcoholic hepatitis Alcoholic hepatitis (disorder) CSP:1754-6978 DOID:12350 DOID:12351 ICD9CM:571.1 NCI:C34352 SNOMEDCT_US_2015_03_01:155810001 SNOMEDCT_US_2015_03_01:9953008 UMLS_CUI:C0001306 acute Alcoholic Hepatitis acute alcoholic hepatitis acute alcoholic liver disease acute alcoholic liver disease (disorder) disease_ontology Alcoholic hepatitis SNOMEDCT_2005_07_31:197312006 SNOMEDCT_2005_07_31:9953008 acute alcoholic liver disease (disorder) Alcoholic Hepatitis NCI2004_11_17:C34684 Alcoholic hepatitis (disorder) SNOMEDCT_2005_07_31:235875008 NCI2004_11_17:C34352 acute Alcoholic Hepatitis ICD9CM_2006:571.1 SNOMEDCT_2005_07_31:155810001 acute alcoholic hepatitis prostatocystitis DOID:12355 ICD10CM:N41.3 ICD9CM:601.3 Prostatocystitis (disorder) SNOMEDCT_US_2015_03_01:67685000 UMLS_CUI:C0156291 disease_ontology Prostatocystitis (disorder) SNOMEDCT_2005_07_31:67685000 bacterial prostatitis DOID:12356 disease_ontology true viral labyrinthitis A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. DOID:12357 Epidemic vertigo Epidemic vertigo (disorder) Epidemic vertigo (finding) ICD9CM:386.35 SNOMEDCT_US_2015_03_01:34243007 SNOMEDCT_US_2015_03_01:409711008 UMLS_CUI:C0155508 Viral labyrinthitis (disorder) disease_ontology Epidemic vertigo (finding) SNOMEDCT_2005_07_31:43680000 Epidemic vertigo (disorder) SNOMEDCT_2005_07_31:186738001 A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. url:http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:34243007 Viral labyrinthitis (disorder) SNOMEDCT_2005_07_31:409711008 Viral labyrinthitis (disorder) Epidemic vertigo ICD9CM_2006:078.81 patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. DOID:12358 ICD10CM:H69.0 ICD10CM:H69.00 ICD9CM:381.7 Patulous Eustachian tube Patulous eustachian tube (disorder) SNOMEDCT_US_2015_03_01:30280005 UMLS_CUI:C0155434 disease_ontology A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false Patulous eustachian tube (disorder) SNOMEDCT_2005_07_31:30280005 ICD9CM_2006:381.7 Patulous Eustachian tube endocrine exophthalmos DOID:12359 ICD9CM:376.2 SNOMEDCT_US_2015_03_01:194012006 SNOMEDCT_US_2015_03_01:276177000 SNOMEDCT_US_2015_03_01:415717005 SNOMEDCT_US_2015_03_01:53061005 Thyroid eye disease with exophthalmos UMLS_CUI:C0155264 disease_ontology SNOMEDCT_2005_07_31:415717005 Thyroid eye disease with exophthalmos lateral displacement of eye DOID:12360 Exophthalmos due to lateral displacement of globe (disorder) ICD10CM:H05.21 ICD9CM:376.36 Lateral displacement of eye (disorder) Lateral displacement of globe SNOMEDCT_US_2015_03_01:48747004 UMLS_CUI:C0155272 disease_ontology ICD9CM_2006:376.36 Lateral displacement of globe Exophthalmos due to lateral displacement of globe (disorder) SNOMEDCT_2005_07_31:194018005 Lateral displacement of eye (disorder) SNOMEDCT_2005_07_31:48747004 Graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. Basedow's disease DOID:12361 EFO:0004237 Grave's disease Graves disease ICD10CM:E05.0 MSH:D006111 NCI:C3071 OMIM:275000 OMIM:300351 OMIM:603388 SNOMEDCT_US_2015_03_01:154655004 SNOMEDCT_US_2015_03_01:190240002 SNOMEDCT_US_2015_03_01:237510004 SNOMEDCT_US_2015_03_01:237823003 SNOMEDCT_US_2015_03_01:267464006 SNOMEDCT_US_2015_03_01:353295004 SNOMEDCT_US_2015_03_01:367367004 SNOMEDCT_US_2015_03_01:367449005 SNOMEDCT_US_2015_03_01:38591003 SNOMEDCT_US_2015_03_01:55807009 UMLS_CUI:C0018213 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology exophthalmic goiter Basedow's disease SNOMEDCT_2005_07_31:237510004 An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. url:http://en.wikipedia.org/wiki/Graves_disease CSP2005:2928-6602 exophthalmic goiter thyrotoxic exophthalmos DOID:12362 ICD9CM:376.21 SNOMEDCT_US_2015_03_01:19885005 Thyrotoxic exophthalmos (disorder) UMLS_CUI:C0155265 disease_ontology SNOMEDCT_2005_07_31:19885005 Thyrotoxic exophthalmos (disorder) intermittent proptosis DOID:12363 ICD10CM:H05.25 ICD9CM:376.34 Intermittent exophthalmos Intermittent exophthalmos (disorder) SNOMEDCT_US_2015_03_01:49774006 UMLS_CUI:C0155270 disease_ontology ICD9CM_2006:376.34 Intermittent exophthalmos Intermittent exophthalmos (disorder) SNOMEDCT_2005_07_31:49774006 pulsating exophthalmos DOID:12364 ICD10CM:H05.26 ICD9CM:376.35 Pulsating exophthalmos (disorder) SNOMEDCT_US_2015_03_01:2284002 UMLS_CUI:C0155271 disease_ontology Pulsating exophthalmos (disorder) SNOMEDCT_2005_07_31:2284002 malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. DOID:12365 DOID:12552 EFO:0001068 ICD10CM:B54 ICD9CM:084 ICD9CM:084.6 MSH:D008288 NCI:C34797 OMIM:609148 OMIM:611162 ORDO:673 SNOMEDCT_US_2015_03_01:105649009 SNOMEDCT_US_2015_03_01:154374002 SNOMEDCT_US_2015_03_01:186797008 SNOMEDCT_US_2015_03_01:187510004 SNOMEDCT_US_2015_03_01:248437004 SNOMEDCT_US_2015_03_01:61462000 UMLS_CUI:C0024530 Xref MGI. disease_ontology induced malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. url:http://en.wikipedia.org/wiki/Malaria url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria prolapse of urethra DOID:12369 ICD10CM:N81.0 ICD9CM:618.03 Prolapse of urethra (disorder) SNOMEDCT_US_2015_03_01:12068006 SNOMEDCT_US_2015_03_01:197935003 UMLS_CUI:C0238502 Urethrocele disease_ontology ICD9CM_2006:618.03 Urethrocele MTHICD9_2006:599.5 Urethrocele Prolapse of urethra (disorder) SNOMEDCT_2005_07_31:12068006 SNOMEDCT_2005_07_31:197935003 Urethrocele corneal degeneration DOID:1237 ICD10CM:H18.4 ICD10CM:H18.40 ICD9CM:371.4 ICD9CM:371.40 SNOMEDCT_US_2015_03_01:111521006 SNOMEDCT_US_2015_03_01:193824006 SNOMEDCT_US_2015_03_01:193830006 UMLS_CUI:C0155118 disease_ontology bronchopneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. Chest infection - unspecified bronchopneumonia DOID:12375 ICD10CM:J18.0 ICD9CM:485 MSH:D001996 NCI:C26710 SNOMEDCT_US_2015_03_01:155551009 SNOMEDCT_US_2015_03_01:195914001 SNOMEDCT_US_2015_03_01:266352008 SNOMEDCT_US_2015_03_01:396285007 SNOMEDCT_US_2015_03_01:67814005 UMLS_CUI:C0006285 bronchial pneumonia disease_ontology lobular pneumonia Chest infection - unspecified bronchopneumonia SNOMEDCT_2005_07_31:195914001 A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/two/000014753.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia juvenile spinal muscular atrophy DOID:12376 DOID:13161 ICD9CM:335.11 Kugelberg-Welander disease MSH:D014897 NCI:C85076 OMIM mapping confirmed by DO. [SN]. OMIM:253400 SMA3 SNOMEDCT_US_2015_03_01:54280009 Spinal muscular atrophy, familial Type III Spinal Muscular Atrophy UMLS_CUI:C0152109 UMLS_CUI:C0700595 disease_ontology spinal muscular atrophy of childhood MTHICD9_2006:335.11 Spinal muscular atrophy, familial SMA3 SNOMEDCT_2005_07_31:54280009 ICD9CM_2006:335.11 Kugelberg-Welander disease spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. DOID:12377 ICD10CM:G12.9 ICD9CM:335.1 ICD9CM:335.10 MSH:D009134 NCI:C85075 SNOMEDCT_US_2015_03_01:192885003 SNOMEDCT_US_2015_03_01:192887006 SNOMEDCT_US_2015_03_01:5262007 UMLS_CUI:C0026847 disease_ontology A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy url:http://www.ncbi.nlm.nih.gov/pubmed/26022173 predominant psychomotor disturbance DOID:12378 disease_ontology true mixed disorder as reaction to stress DOID:12379 disease_ontology true acute erythremia and erythroleukemia in remission DOID:1238 disease_ontology true predominant disturbance of consciousness DOID:12380 disease_ontology true complex partial epilepsy Complex partial epileptic seizure DOID:12382 MSH:D017029 Psychomotor epilepsy Psychomotor epilepsy (disorder) SNOMEDCT_US_2015_03_01:193001003 SNOMEDCT_US_2015_03_01:307358009 SNOMEDCT_US_2015_03_01:361123003 SNOMEDCT_US_2015_03_01:407675009 SNOMEDCT_US_2015_03_01:84340007 UMLS_CUI:C0085417 disease_ontology epilepsy, psychomotor psychomotor epilepsy Psychomotor epilepsy SNOMEDCT_2005_07_31:193001003 CSP2005:0485-7151 psychomotor epilepsy Psychomotor epilepsy (disorder) SNOMEDCT_2005_07_31:361123003 Complex partial epileptic seizure SNOMEDCT_2005_07_31:407675009 Psychomotor epilepsy SNOMEDCT_2005_07_31:307358009 Psychomotor epilepsy SNOMEDCT_2005_07_31:84340007 MTHICD9_2006:345.4 epilepsy, psychomotor dysentery An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. DOID:12384 ICD9CM:009.2 Infectious diarrhea MSH:D004403 SNOMEDCT_US_2015_03_01:111939009 SNOMEDCT_US_2015_03_01:154268000 SNOMEDCT_US_2015_03_01:154279005 SNOMEDCT_US_2015_03_01:186165000 SNOMEDCT_US_2015_03_01:186167008 SNOMEDCT_US_2015_03_01:19213003 SNOMEDCT_US_2015_03_01:236076004 SNOMEDCT_US_2015_03_01:266173000 SNOMEDCT_US_2015_03_01:266180003 UMLS_CUI:C0013369 disease_ontology An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea url:http://en.wikipedia.org/wiki/Dysentery url:http://www.who.int/topics/dysentery/en/ url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery ICD9CM_2006:009.2 Infectious diarrhea shigellosis A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. DOID:11378 DOID:12385 DOID:12950 DOID:2041 DOID:924 DOID:925 ICD10CM:A03 ICD10CM:A03.0 ICD10CM:A03.1 ICD10CM:A03.2 ICD10CM:A03.9 ICD9CM:004 ICD9CM:004.0 ICD9CM:004.1 ICD9CM:004.2 ICD9CM:004.3 ICD9CM:004.9 KEGG:05131 MSH:D004405 SNOMEDCT_US_2015_03_01:111817006 SNOMEDCT_US_2015_03_01:154272001 SNOMEDCT_US_2015_03_01:186104004 SNOMEDCT_US_2015_03_01:186105003 SNOMEDCT_US_2015_03_01:186108001 SNOMEDCT_US_2015_03_01:187272003 SNOMEDCT_US_2015_03_01:266175007 SNOMEDCT_US_2015_03_01:34335000 SNOMEDCT_US_2015_03_01:36188001 SNOMEDCT_US_2015_03_01:55760004 SNOMEDCT_US_2015_03_01:66301008 Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease UMLS_CUI:C0013371 UMLS_CUI:C0302358 UMLS_CUI:C0302359 UMLS_CUI:C0302360 UMLS_CUI:C0302361 bacillary dysentery disease_ontology A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. url:http://emedicine.medscape.com/article/182767-overview#a0104 url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh CSP2005:1248-4621 bacillary dysentery SNOMEDCT_2005_07_31:36188001 Shigella gastroenteritis balantidiasis A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. Balantidiasis (disorder) DOID:12386 ICD10CM:A07.0 ICD9CM:007.0 MSH:D001447 NCI:C84583 SNOMEDCT_US_2015_03_01:105638003 SNOMEDCT_US_2015_03_01:57725006 UMLS_CUI:C0004692 disease due to Balantidiidae (disorder) disease_ontology SNOMEDCT_2005_07_31:105638003 disease due to Balantidiidae (disorder) A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. url:http://www.ncbi.nlm.nih.gov/pubmed/14760781 Balantidiasis (disorder) SNOMEDCT_2005_07_31:57725006 nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). DOID:12387 ICD10CM:N25.1 ICD9CM:588.1 MSH:D018500 NCI:C84919 OMIM:125800 OMIM:304800 ORDO:223 SNOMEDCT_US_2015_03_01:111395007 SNOMEDCT_US_2015_03_01:123294004 UMLS_CUI:C0162283 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. disease_ontology vasopressin-resistant diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). url:http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus url:http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus url:http://rarediseases.info.nih.gov/gard/7178/nephrogenic-diabetes-insipidus/resources/1 url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/nephrogenic_diabetes_insipidus.html neurohypophyseal diabetes insipidus DOID:12388 MSH:D020790 NCI:C84933 OMIM mapping confirmed by DO. [SN]. OMIM:125700 OMIM:304900 Pituitary diabetes insipidus SNOMEDCT_US_2015_03_01:154699008 SNOMEDCT_US_2015_03_01:15771004 SNOMEDCT_US_2015_03_01:190484000 SNOMEDCT_US_2015_03_01:267393007 SNOMEDCT_US_2015_03_01:45369008 SNOMEDCT_US_2015_03_01:64410003 UMLS_CUI:C0687720 Vasopressin deficiency central diabetes insipidus disease_ontology vasopressin defective diabetes insipidus CSP2005:1849-2602 vasopressin defective diabetes insipidus SNOMEDCT_2005_07_31:154699008 central diabetes insipidus Pituitary diabetes insipidus SNOMEDCT_2005_07_31:15771004 SNOMEDCT_2005_07_31:190484000 Vasopressin deficiency acute erythremia and erythroleukemia DOID:1239 disease_ontology true leukemic reticuloendotheliosis involving lymph nodes of head, face and neck DOID:12392 Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder) Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) disease_ontology true Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93148000 Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188645002 ICD9CM_2006:202.41 Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck spastic entropion DOID:12395 ICD9CM:374.03 SNOMEDCT_US_2015_03_01:20828000 Spastic entropion (disorder) UMLS_CUI:C0155190 disease_ontology SNOMEDCT_2005_07_31:20828000 Spastic entropion (disorder) entropion and trichiasis of eyelid DOID:12396 Entropion and trichiasis of eyelid (disorder) Entropion or trichiasis of eyelid NOS (disorder) disease_ontology true Entropion or trichiasis of eyelid NOS (disorder) SNOMEDCT_2005_07_31:193933009 Entropion and trichiasis of eyelid (disorder) SNOMEDCT_2005_07_31:267649003 entropion DOID:12397 DOID:14446 ICD9CM:374.00 MSH:D004774 SNOMEDCT_US_2015_03_01:155177005 SNOMEDCT_US_2015_03_01:193928005 SNOMEDCT_US_2015_03_01:246821008 SNOMEDCT_US_2015_03_01:33168009 Trichiasis of eyelid without entropion UMLS_CUI:C0014390 disease_ontology pathological gambling An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. Compulsive gambling DOID:12399 ICD10CM:F63.0 ICD9CM:312.31 MSH:D005715 NCI:C94335 OMIM mapping confirmed by DO. [SN]. OMIM:606349 Pathological gambling SNOMEDCT_US_2015_03_01:18085000 SNOMEDCT_US_2015_03_01:192501004 SNOMEDCT_US_2015_03_01:284524008 UMLS_CUI:C0030662 disease_ontology An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. url:http://www.forensicpsychiatry.ca/impulse/gambling.htm Pathological gambling SNOMEDCT_2005_07_31:192501004 Compulsive gambling SNOMEDCT_2005_07_31:284524008 leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. DOID:1240 DOID:9145 ICD10CM:C95 ICD10CM:C95.9 ICD10CM:C95.90 ICD9CM:208 ICD9CM:208.9 MSH:D007938 NCI:C3161 SNOMEDCT_US_2015_03_01:154598008 SNOMEDCT_US_2015_03_01:188762002 SNOMEDCT_US_2015_03_01:188767008 SNOMEDCT_US_2015_03_01:190024009 SNOMEDCT_US_2015_03_01:190025005 SNOMEDCT_US_2015_03_01:190029004 SNOMEDCT_US_2015_03_01:190071003 SNOMEDCT_US_2015_03_01:255049003 SNOMEDCT_US_2015_03_01:87163000 SNOMEDCT_US_2015_03_01:93143009 UMLS_CUI:C0023418 disease_ontology A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. url:http://en.wikipedia.org/wiki/Leukemia url:http://www.cancer.gov/dictionary?CdrID=45343 kleptomania An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. DOID:12400 ICD10CM:F63.2 ICD9CM:312.32 MSH:D007174 NCI:C94333 Pathological stealing SNOMEDCT_US_2015_03_01:154947009 SNOMEDCT_US_2015_03_01:192503001 SNOMEDCT_US_2015_03_01:69361009 UMLS_CUI:C0022734 disease_ontology Pathological stealing SNOMEDCT_2005_07_31:192503001 An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. url:http://www.forensicpsychiatry.ca/impulse/kleptomania.htm intermittent explosive disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. DOID:12401 DOID:9404 ICD10CM:F60.3 ICD10CM:F63.81 ICD9CM:301.3 ICD9CM:312.34 MSH:D007174 NCI:C94332 SNOMEDCT_US_2015_03_01:191759005 SNOMEDCT_US_2015_03_01:192096007 SNOMEDCT_US_2015_03_01:192488005 SNOMEDCT_US_2015_03_01:231527003 SNOMEDCT_US_2015_03_01:268757006 SNOMEDCT_US_2015_03_01:40987004 UMLS_CUI:C0021776 UMLS_CUI:C0152183 disease_ontology explosive personality disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. url:http://www.forensicpsychiatry.ca/impulse/explosive.htm pyromania An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. DOID:12402 ICD10CM:F63.1 ICD9CM:312.33 MSH:D005391 NCI:C94334 Pathological firesetting SNOMEDCT_US_2015_03_01:192502006 SNOMEDCT_US_2015_03_01:248015004 SNOMEDCT_US_2015_03_01:600009 UMLS_CUI:C0016142 disease_ontology firesetting behavior An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. url:http://www.forensicpsychiatry.ca/impulse/pryromania.htm Pathological firesetting SNOMEDCT_2005_07_31:192502006 tinea pedis A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. Athlete's foot DOID:12403 Dermatophytosis of foot Dermatophytosis of foot (& tinea pedis) Dermatophytosis of foot (disorder) ICD10CM:B35.3 ICD9CM:110.4 MSH:D014008 SNOMEDCT_US_2015_03_01:154399001 SNOMEDCT_US_2015_03_01:186993002 SNOMEDCT_US_2015_03_01:271427009 SNOMEDCT_US_2015_03_01:6020002 Tinea pedis Tinea pedis (disorder) UMLS_CUI:C0040259 disease_ontology ringworm of foot SNOMEDCT_2005_07_31:154399001 Tinea pedis Dermatophytosis of foot ICD9CM_2006:110.4 Dermatophytosis of foot (& tinea pedis) SNOMEDCT_2005_07_31:186993002 Dermatophytosis of foot (disorder) SNOMEDCT_2005_07_31:271427009 Athlete's foot MTHICD9_2006:110.4 SNOMEDCT_2005_07_31:6020002 Tinea pedis (disorder) A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. stedman:rlc url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. DOID:12404 Dermatophytosis-tinea/ringworm Microsporic tinea, NOS disease_ontology ringworm true Microsporic tinea, NOS SNOMEDCT_2005_07_31:47382004 CSP2005:1988-5318 ringworm Dermatophytosis-tinea/ringworm SNOMEDCT_2005_07_31:266214005 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. url:http://emedicine.medscape.com/article/787217-overview luxation of globe DOID:1241 ICD10CM:H44.82 ICD9CM:360.81 Luxation of eye (disorder) SNOMEDCT_US_2015_03_01:20842008 UMLS_CUI:C0154806 disease_ontology Luxation of eye (disorder) SNOMEDCT_2005_07_31:20842008 psychogenic dysmenorrhea DOID:12417 Psychogenic dysmenorrhea Psychogenic dysmenorrhea (finding) Psychogenic dysmenorrhoea disease_ontology true Psychogenic dysmenorrhea (finding) SNOMEDCT_2005_07_31:191977008 Psychogenic dysmenorrhea SNOMEDCT_2005_07_31:192436003 Psychogenic dysmenorrhoea SNOMEDCT_2005_07_31:268773000 Psychogenic dysmenorrhoea SNOMEDCT_2005_07_31:154924008 globe disease DOID:1242 ICD10CM:H44.39 ICD9CM:360.29 SNOMEDCT_US_2015_03_01:194638007 UMLS_CUI:C0154780 disease_ontology thyrocalcitonin secretion disease DOID:12424 ICD9CM:246.0 SNOMEDCT_US_2015_03_01:190303007 UMLS_CUI:C0701822 disease_ontology disorder of thyrocalcitonin secretion disorder of thyrocalcitonin secretion (disorder) ICD9CM_2006:246.0 disorder of thyrocalcitonin secretion SNOMEDCT_2005_07_31:190303007 disorder of thyrocalcitonin secretion (disorder) labia minora cancer DOID:1243 ICD10CM:C51.1 ICD9CM:184.2 NCI:C7637 SNOMEDCT_US_2015_03_01:363447008 SNOMEDCT_US_2015_03_01:93851005 UMLS_CUI:C0496815 disease_ontology malignant neoplasm of labia minora malignant neoplasm of labia minora (disorder) malignant neoplasm of labium minus malignant tumor of Labia Minora NCI2004_11_17:C7637 malignant tumor of Labia Minora MTH:U001388 malignant neoplasm of labium minus SNOMEDCT_2005_07_31:363447008 malignant neoplasm of labia minora (disorder) SNOMEDCT_2005_07_31:93851005 malignant neoplasm of labia minora ICD9CM_2006:184.2 malignant neoplasm of labia minora conjugate gaze palsy Conjugate gaze palsy [Ambiguous] DOID:12445 ICD9CM:378.81 Palsy of conjugate gaze Palsy of conjugate gaze (disorder) SNOMEDCT_US_2015_03_01:1534008 SNOMEDCT_US_2015_03_01:193169002 SNOMEDCT_US_2015_03_01:194130001 UMLS_CUI:C0702143 disease_ontology Conjugate gaze palsy [Ambiguous] SNOMEDCT_2005_07_31:194130001 ICD9CM_2006:378.81 Palsy of conjugate gaze Palsy of conjugate gaze (disorder) SNOMEDCT_2005_07_31:1534008 hematologic pregnancy complication DOID:12448 disease_ontology true aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. DOID:12449 ICD10CM:D61.9 ICD9CM:284.9 MSH:D000741 NCI:C2870 OMIM mapping confirmed by DO. [SN]. OMIM:609135 SNOMEDCT_US_2015_03_01:154807001 SNOMEDCT_US_2015_03_01:191233006 SNOMEDCT_US_2015_03_01:191258001 SNOMEDCT_US_2015_03_01:267560004 SNOMEDCT_US_2015_03_01:304132006 SNOMEDCT_US_2015_03_01:305047005 SNOMEDCT_US_2015_03_01:306058006 SNOMEDCT_US_2015_03_01:79000000 UMLS_CUI:C0002874 disease_ontology An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. url:http://en.wikipedia.org/wiki/Aplastic_anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ vulva cancer Ca vulva DOID:1245 DOID:1282 ICD10CM:C51 ICD10CM:C51.9 ICD9CM:184.4 MSH:D014846 NCI:C3443 NCI:C7502 SNOMEDCT_US_2015_03_01:126922007 SNOMEDCT_US_2015_03_01:154535008 SNOMEDCT_US_2015_03_01:188214009 SNOMEDCT_US_2015_03_01:269471005 SNOMEDCT_US_2015_03_01:269604005 SNOMEDCT_US_2015_03_01:363367000 SNOMEDCT_US_2015_03_01:94143002 UMLS_CUI:C0042995 UMLS_CUI:C0375071 Vulvar tumor disease_ontology malignant Vulvar tumor malignant neoplasm of vulva unspecified malignant neoplasm of vulva unspecified (disorder) malignant neoplasm of vulva, NOS malignant neoplasm of vulva, unspecified malignant tumor of vulva (disorder) neoplasm of vulva (disorder) vulval cancer vulval neoplasm vulvar neoplasm SNOMEDCT_2005_07_31:94143002 malignant neoplasm of vulva, NOS CSP2005:2016-2183 vulval cancer Ca vulva SNOMEDCT_2005_07_31:269604005 NCI2004_11_17:C3443 Vulvar tumor Ca vulva SNOMEDCT_2005_07_31:154535008 NCI2004_11_17:C7502 malignant Vulvar tumor SNOMEDCT_2005_07_31:269471005 malignant neoplasm of vulva unspecified (disorder) CSP2005:2016-2183 vulval neoplasm SNOMEDCT_2005_07_31:188214009 malignant neoplasm of vulva unspecified SNOMEDCT_2005_07_31:126922007 neoplasm of vulva (disorder) ICD9CM_2006:184.4 malignant neoplasm of vulva, unspecified SNOMEDCT_2005_07_31:363367000 malignant tumor of vulva (disorder) pancytopenia DOID:12450 ICD10CM:D61.81 ICD9CM:284.1 MSH:D010198 NCI:C34889 NCI:C80693 Pancytopenia (disorder) Pancytopenia NOS Pancytopenia NOS (disorder) SNOMEDCT_US_2015_03_01:127034005 SNOMEDCT_US_2015_03_01:191250008 SNOMEDCT_US_2015_03_01:267528007 UMLS_CUI:C0030312 disease_ontology Pancytopenia NOS SNOMEDCT_2005_07_31:191250008 Pancytopenia NOS (disorder) SNOMEDCT_2005_07_31:267528007 Pancytopenia (disorder) SNOMEDCT_2005_07_31:127034005 sulfhemoglobinemia DOID:12451 MSH:D013436 SNOMEDCT_US_2015_03_01:191386007 SNOMEDCT_US_2015_03_01:191391008 SNOMEDCT_US_2015_03_01:32117000 Sulfemoglobinemia Sulfhemoglobinemia (disorder) UMLS_CUI:C0038732 disease_ontology SNOMEDCT_2005_07_31:191391008 Sulfemoglobinemia SNOMEDCT_2005_07_31:32117000 Sulfhemoglobinemia (disorder) SNOMEDCT_2005_07_31:191386007 Sulfemoglobinemia secondary hyperparathyroidism of renal origin DOID:12465 ICD10CM:N25.81 ICD9CM:588.81 SNOMEDCT_US_2015_03_01:19034001 SNOMEDCT_US_2015_03_01:31298003 UMLS_CUI:C0271847 disease_ontology hyperparathyroidism due to renal insufficiency (disorder) secondary hyperparathyroidism (of renal origin) secondary hyperparathyroidism of renal origin (disorder) ICD9CM_2006:588.81 secondary hyperparathyroidism (of renal origin) SNOMEDCT_2005_07_31:19034001 hyperparathyroidism due to renal insufficiency (disorder) SNOMEDCT_2005_07_31:31298003 secondary hyperparathyroidism of renal origin (disorder) secondary hyperparathyroidism DOID:12466 MSH:D006962 NCI:C113335 SNOMEDCT_US_2015_03_01:91478007 UMLS_CUI:C0020503 disease_ontology secondary hyperparathyroidism (disorder) secondary hyperparathyroidism NOS MTHICD9_2006:588.81 secondary hyperparathyroidism NOS SNOMEDCT_2005_07_31:91478007 secondary hyperparathyroidism (disorder) blood coagulation disease DOID:1247 DOID:13997 DOID:9474 ICD10CM:D68.9 ICD9CM:286 MSH:D001778 NCI:C2902 SNOMEDCT_US_2015_03_01:127073005 SNOMEDCT_US_2015_03_01:154815003 SNOMEDCT_US_2015_03_01:191303002 SNOMEDCT_US_2015_03_01:267562007 SNOMEDCT_US_2015_03_01:362970003 SNOMEDCT_US_2015_03_01:64779008 UMLS_CUI:C0005779 disease_ontology postpartum coagulation defect postpartum coagulation defect with delivery capillariasis A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. Capillaria infection (disorder) DOID:12474 ICD10CM:B81.1 ICD9CM:127.5 SNOMEDCT_US_2015_03_01:52979002 UMLS_CUI:C0006897 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm Capillaria infection (disorder) SNOMEDCT_2005_07_31:52979002 pes anserinus tendinitis or bursitis DOID:12475 ICD9CM:726.61 UMLS_CUI:C0158314 disease_ontology ocular hyperemia Conjunctival hyperemia (finding) DOID:1248 Ocular hyperemia (disorder) SNOMEDCT_US_2015_03_01:359610006 SNOMEDCT_US_2015_03_01:76849009 UMLS_CUI:C0155169 disease_ontology hyperEMIA eye hyperemia of conjunctiva hyperemia of conjunctiva (disorder) [Ambiguous] Ocular hyperemia (disorder) SNOMEDCT_2005_07_31:359610006 MTH:NOCODE hyperEMIA eye SNOMEDCT_2005_07_31:76849009 hyperemia of conjunctiva (disorder) [Ambiguous] ICD9CM_2006:372.71 hyperemia of conjunctiva Conjunctival hyperemia (finding) SNOMEDCT_2005_07_31:193894004 Conjunctival vascular disorder and cysts Conjunctival vascular disorder and cysts (disorder) DOID:1249 disease_ontology true Conjunctival vascular disorder and cysts (disorder) SNOMEDCT_2005_07_31:193893005 Vagus nerve disease DOID:12491 ICD10CM:G52.2 ICD9CM:352.3 MSH:D020421 NCI:C27591 SNOMEDCT_US_2015_03_01:73765005 UMLS_CUI:C0152179 Vagus nerve disorder disease_ontology disorder of pneumogastric [10th] nerve disorder of vagal nerve disorder of vagus nerve (disorder) ICD9CM_2006:352.3 disorder of pneumogastric [10th] nerve SNOMEDCT_2005_07_31:73765005 disorder of vagus nerve (disorder) MTHICD9_2006:352.3 disorder of vagal nerve NCI2004_11_17:C27591 Vagus nerve disorder vagina leiomyoma DOID:125 NCI:C6373 UMLS_CUI:C1336939 disease_ontology leiomyoma of vagina NCI2004_11_17:C6373 leiomyoma of vagina Bell's palsy A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). Bell palsy Bell's (facial) palsy DOID:12506 ICD10CM:G51.0 ICD9CM:351.0 MSH:D020330 SNOMEDCT_US_2015_03_01:155070005 SNOMEDCT_US_2015_03_01:193093009 SNOMEDCT_US_2015_03_01:267703001 SNOMEDCT_US_2015_03_01:79359001 UMLS_CUI:C0376175 disease_ontology Bell's (facial) palsy SNOMEDCT_2005_07_31:267703001 A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). url:http://en.wikipedia.org/wiki/Bell%27s_palsy simple type schizophrenia chronic state with acute exacerbation DOID:12508 disease_ontology true tuberculous epididymitis An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. DOID:1251 ICD9CM:016.4 SNOMEDCT_US_2015_03_01:83652003 UMLS_CUI:C0152814 disease_ontology An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. url:http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html retinal ischemia DOID:12510 ICD10CM:H35.82 ICD9CM:362.84 Retinal ischaemia Retinal ischemia (disorder) SNOMEDCT_US_2015_03_01:193427006 SNOMEDCT_US_2015_03_01:26468004 UMLS_CUI:C0162291 disease_ontology Retinal ischaemia SNOMEDCT_2005_07_31:193427006 Retinal ischemia (disorder) SNOMEDCT_2005_07_31:26468004 retinal perforation DOID:12514 MSH:D012167 NCI:C50732 Retinal break Retinal breaks NOS Retinal dialysis (disorder) Retinal tear Retinal tear (disorder) Retinal tears SNOMEDCT_US_2015_03_01:155104004 SNOMEDCT_US_2015_03_01:193317004 SNOMEDCT_US_2015_03_01:193343003 SNOMEDCT_US_2015_03_01:232003005 SNOMEDCT_US_2015_03_01:302888003 SNOMEDCT_US_2015_03_01:40024006 SNOMEDCT_US_2015_03_01:95690009 UMLS_CUI:C0035321 disease_ontology Retinal tear SNOMEDCT_2005_07_31:40024006 MTHICD9_2006:361.30 Retinal breaks NOS Retinal break SNOMEDCT_2005_07_31:155104004 Retinal dialysis (disorder) SNOMEDCT_2005_07_31:232003005 Retinal tear (disorder) SNOMEDCT_2005_07_31:95690009 Retinal break SNOMEDCT_2005_07_31:193343003 Retinal tears SNOMEDCT_2005_07_31:193317004 trichuriasis A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. DOID:1252 ICD10CM:B79 ICD9CM:127.3 Infection by Trichuris trichura MSH:D014257 SNOMEDCT_US_2015_03_01:154413002 SNOMEDCT_US_2015_03_01:3752003 SNOMEDCT_US_2015_03_01:60570001 Trichuriasis Trichuriasis (disorder) Trichuriasis infection UMLS_CUI:C0040954 Whipworm disease disease_ontology trichuris trichiura infection SNOMEDCT_2005_07_31:3752003 Trichuriasis (disorder) ICD9CM_2006:127.3 Trichuriasis infection SNOMEDCT_2005_07_31:154413002 Trichuriasis Infection by Trichuris trichura SNOMEDCT_2005_07_31:60570001 MTHICD9_2006:127.3 Whipworm disease A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. url:http://en.wikipedia.org/wiki/Trichuriasis url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm bagassosis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. Bagassosis (disorder) DOID:12522 ICD10CM:J67.1 ICD9CM:495.1 MSH:D011009 NCI:C34409 SNOMEDCT_US_2015_03_01:67242002 UMLS_CUI:C0004681 disease_ontology sugar cane worker pneumonitis Bagassosis (disorder) SNOMEDCT_2005_07_31:67242002 An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/medical/bagassosis CSP2005:2596-6673 sugar cane worker pneumonitis plantar nerve lesion DOID:12524 ICD10CM:G57.6 ICD10CM:G57.60 ICD9CM:355.6 Lesion of plantar nerve Lesion of plantar nerve, NOS Plantar nerve lesion (disorder) Plantar nerve lesion NOS (disorder) SNOMEDCT_US_2015_03_01:193148004 SNOMEDCT_US_2015_03_01:193151006 SNOMEDCT_US_2015_03_01:60525009 UMLS_CUI:C0154752 disease_ontology Lesion of plantar nerve, NOS SNOMEDCT_2005_07_31:60525009 Plantar nerve lesion (disorder) SNOMEDCT_2005_07_31:193148004 ICD9CM_2006:355.6 Lesion of plantar nerve Plantar nerve lesion NOS (disorder) SNOMEDCT_2005_07_31:193151006 Lateral cutaneous femoral nerve of thigh compression or syndrome DOID:12525 Meralgia paraesthetica Meralgia paresthetica Meralgia paresthetica (disorder) disease_ontology true ICD9CM_2006:355.1 Meralgia paresthetica Meralgia paraesthetica SNOMEDCT_2005_07_31:155076004 Meralgia paresthetica (disorder) SNOMEDCT_2005_07_31:85007004 tarsal tunnel syndrome DOID:12526 ICD10CM:G57.5 ICD10CM:G57.50 ICD9CM:355.5 MSH:D013641 NCI:C85183 SNOMEDCT_US_2015_03_01:155077008 SNOMEDCT_US_2015_03_01:47374004 UMLS_CUI:C0039319 disease_ontology common peroneal nerve lesion DOID:12527 ICD10CM:G57.3 ICD10CM:G57.30 ICD9CM:355.3 Lesion of common peroneal nerve Lesion of common peroneal nerve, NOS Lesion of lateral popliteal nerve SNOMEDCT_US_2015_03_01:16006009 SNOMEDCT_US_2015_03_01:399107008 SNOMEDCT_US_2015_03_01:55740007 UMLS_CUI:C0270909 disease_ontology Lesion of common peroneal nerve SNOMEDCT_2005_07_31:55740007 Lesion of common peroneal nerve MTHICD9_2006:355.3 Lesion of common peroneal nerve SNOMEDCT_2005_07_31:399107008 Lesion of common peroneal nerve, NOS SNOMEDCT_2005_07_31:16006009 ICD9CM_2006:355.3 Lesion of lateral popliteal nerve lesion of sciatic nerve DOID:12528 ICD10CM:G57.0 ICD10CM:G57.00 ICD9CM:355.0 Lesion of sciatic nerve Lesion of sciatic nerve, NOS MSH:D020426 SNOMEDCT_US_2015_03_01:193144002 SNOMEDCT_US_2015_03_01:367137004 SNOMEDCT_US_2015_03_01:52585001 Sciatic nerve lesion (disorder) Sciatic nerve lesion [Ambiguous] UMLS_CUI:C0154748 disease_ontology SNOMEDCT_2005_07_31:367137004 Sciatic nerve lesion (disorder) SNOMEDCT_2005_07_31:193144002 Sciatic nerve lesion [Ambiguous] Lesion of sciatic nerve, NOS SNOMEDCT_2005_07_31:52585001 ICD9CM_2006:355.0 Lesion of sciatic nerve tibial nerve palsy DOID:12529 SNOMEDCT_US_2015_03_01:359842002 SNOMEDCT_US_2015_03_01:365258000 Tibial nerve palsy (disorder) UMLS_CUI:C0154751 disease_ontology SNOMEDCT_2005_07_31:365258000 Tibial nerve palsy (disorder) Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. DOID:1253 disease_ontology enoplida infectious disease true A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. url:http://en.wikipedia.org/wiki/Enoplia url:http://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm von Willebrand's disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. DOID:12531 ICD10CM:D68.0 ICD10CM:D69.8 ICD9CM:286.4 MSH:D014842 NCI:C68677 OMIM mapping confirmed by DO. [SN]. OMIM:193400 OMIM:277480 OMIM:613554 SNOMEDCT_US_2015_03_01:11093006 SNOMEDCT_US_2015_03_01:128105004 SNOMEDCT_US_2015_03_01:154819009 UMLS_CUI:C0042974 disease_ontology vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease CSP2005:0438-9190 vascular hemophilia MTHICD9_2006:286.4 von Willebrand's-Jurgens' disease SNOMEDCT_2005_07_31:11093006 von Willebrand-Jrgens disease SNOMEDCT_2005_07_31:128105004 von Willebrand disorder A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. url:http://en.wikipedia.org/wiki/Von_Willebrand_disease url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease MTHICD9_2006:287.8 vascular pseudohemophilia hypermobility of coccyx Coccygeal hypermobility syndrome (disorder) DOID:12537 ICD9CM:724.71 SNOMEDCT_US_2015_03_01:202809009 SNOMEDCT_US_2015_03_01:22903002 SNOMEDCT_US_2015_03_01:247367007 UMLS_CUI:C0158295 disease_ontology hypermobility of coccyx (disorder) hypermobility of the coccyx (disorder) SNOMEDCT_2005_07_31:202809009 hypermobility of the coccyx (disorder) Coccygeal hypermobility syndrome (disorder) SNOMEDCT_2005_07_31:247367007 SNOMEDCT_2005_07_31:22903002 hypermobility of coccyx (disorder) Chlamydia trachomatis pharyngitis DOID:12538 disease_ontology true venereal disease of pharynx due to Chlamydia trachomatis Chlamydia trachomatis proctitis Chlamydial infection of anus and rectum (disorder) DOID:12539 Venereal disease of the anus and rectum due to Chlamydia trachomatis disease_ontology true Chlamydial infection of anus and rectum (disorder) SNOMEDCT_2005_07_31:186731007 ICD9CM_2006:099.52 Venereal disease of the anus and rectum due to Chlamydia trachomatis trichostrongylosis A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. DOID:1254 ICD10CM:B81.2 ICD9CM:127.6 Infection by Trichostrongylus Infection by Trichostrongylus species MSH:D014253 SNOMEDCT_US_2015_03_01:33710003 Trichostrongyliasis UMLS_CUI:C0040948 disease_ontology A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. url:http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm Infection by Trichostrongylus SNOMEDCT_2005_07_31:33710003 ICD9CM_2006:127.6 Trichostrongyliasis Infection by Trichostrongylus species MTHICD9_2006:127.6 catatonic type schizophrenia subchronic state DOID:12541 disease_ontology true catatonic type schizophrenia subchronic state with acute exacerbation DOID:12542 disease_ontology true catatonic type schizophrenia chronic state with acute exacerbation DOID:12543 disease_ontology true atrophic nonflaccid tympanic membrane DOID:12546 ICD10CM:H73.82 ICD9CM:384.82 SNOMEDCT_US_2015_03_01:194323000 SNOMEDCT_US_2015_03_01:72052003 UMLS_CUI:C0155471 atrophic nonflaccid tympanic membrane (disorder) disease_ontology SNOMEDCT_2005_07_31:72052003 atrophic nonflaccid tympanic membrane (disorder) hepatitis A A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12547 DOID:12549 MSH:D006506 NCI:C3096 SNOMEDCT_US_2015_03_01:154347003 SNOMEDCT_US_2015_03_01:40468003 UMLS_CUI:C0019159 Viral hepatitis A Viral hepatitis, type A (disorder) disease_ontology A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HAV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf SNOMEDCT_2005_07_31:40468003 Viral hepatitis, type A (disorder) trichostrongyloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. DOID:1255 MSH:D014252 UMLS_CUI:C0040947 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. url:http://en.wikipedia.org/wiki/Strongylida hepatic coma DOID:12550 Hepatocerebral intoxication ICD10CM:K72.91 MSH:D006501 SNOMEDCT_US_2015_03_01:155820006 SNOMEDCT_US_2015_03_01:197332007 SNOMEDCT_US_2015_03_01:72836002 UMLS_CUI:C0019147 disease_ontology Hepatocerebral intoxication MTHICD9_2006:572.2 Escherichia coli septicemia DOID:12551 Septicemia due to E. Coli (disorder) Septicemia due to escherichia coli Septicemia due to escherichia coli [E. coli] disease_ontology true ICD9CM_2006:038.42 Septicemia due to escherichia coli [E. coli] SNOMEDCT_2005_07_31:9323009 Septicemia due to E. Coli (disorder) MTHICD9_2006:038.42 Septicemia due to escherichia coli hemolytic-uremic syndrome DOID:12554 ICD10CM:D59.3 ICD9CM:283.11 MSH:D006463 NCI:C75545 OMIM:235400 OMIM:612922 OMIM:612923 OMIM:612924 OMIM:612925 OMIM:612926 ORDO:2134 SNOMEDCT_US_2015_03_01:111407006 SNOMEDCT_US_2015_03_01:123308008 UMLS_CUI:C0019061 Xref MGI. disease_ontology haemolytic-uraemic syndrome hemolytic uremic syndrome CSP2005:0427-1005 hemolytic uremic syndrome acute renal failure with lesion of renal cortical necrosis DOID:12555 disease_ontology true acute kidney tubular necrosis ATN - acute tubular necrosis DOID:12556 ICD10CM:N17.0 MSH:D007683 NCI:C34749 SNOMEDCT_US_2015_03_01:197649009 SNOMEDCT_US_2015_03_01:23697004 SNOMEDCT_US_2015_03_01:35455006 UMLS_CUI:C0022672 acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute renal failure with tubular necrosis acute tubular necrosis acute tubule necrosis disease_ontology MTHICD9_2006:584.5 acute renal failure with tubular necrosis SNOMEDCT_2005_07_31:35455006 acute tubule necrosis SNOMEDCT_2005_07_31:197649009 acute tubular necrosis NCI2004_11_17:C34749 acute renal Failure with tubular necrosis CSP2005:1682-2833 acute tubular necrosis ICD9CM_2006:584.5 acute renal failure with lesion of tubular necrosis ATN - acute tubular necrosis SNOMEDCT_2005_07_31:23697004 Duane retraction syndrome DOID:12557 Duane's syndrome ICD10CM:H50.81 ICD9CM:378.71 MSH:D004370 NCI:C84678 OMIM mapping confirmed by DO. [SN]. OMIM:126800 OMIM:604356 SNOMEDCT_US_2015_03_01:60318001 Stilling-Turk-Duane syndrome UMLS_CUI:C0013261 disease_ontology SNOMEDCT_2005_07_31:60318001 Stilling-Turk-Duane syndrome Duane's syndrome ICD9CM_2006:378.71 chronic progressive external ophthalmoplegia DOID:12558 ICD10CM:H49.4 ICD9CM:378.72 MSH:D017246 SNOMEDCT_US_2015_03_01:194034008 SNOMEDCT_US_2015_03_01:194126004 SNOMEDCT_US_2015_03_01:46252003 UMLS_CUI:C0162674 chronic progressive external ophthalmoplegia [Ambiguous] disease_ontology progressive external ophthalmoplegia progressive external ophthalmoplegia (disorder) SNOMEDCT_2005_07_31:194034008 chronic progressive external ophthalmoplegia [Ambiguous] ICD9CM_2006:378.72 progressive external ophthalmoplegia SNOMEDCT_2005_07_31:46252003 progressive external ophthalmoplegia (disorder) idiopathic juvenile osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. DOID:12559 ICD9CM:733.02 Idiopathic osteoporosis (disorder) OMIM:259750 SNOMEDCT_US_2015_03_01:3345002 UMLS_CUI:C0158447 disease_ontology juvenile osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193 Idiopathic osteoporosis (disorder) SNOMEDCT_2005_07_31:3345002 ulceration of vulva DOID:12566 ICD10CM:N77.0 ICD9CM:616.51 SNOMEDCT_US_2015_03_01:198230004 SNOMEDCT_US_2015_03_01:86533009 UMLS_CUI:C0156340 Ulceration of vulva associated with another disease (disorder) Ulceration of vulva in disease EC (disorder) Ulceration of vulva in disease classified elsewhere disease_ontology SNOMEDCT_2005_07_31:86533009 Ulceration of vulva associated with another disease (disorder) SNOMEDCT_2005_07_31:198230004 Ulceration of vulva in disease EC (disorder) ICD9CM_2006:616.51 Ulceration of vulva in disease classified elsewhere dyscalculia A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. DOID:12568 Mathematics disorder disease_ontology disorder of arithmetical skills ICD9CM_2006:315.1 Mathematics disorder SNOMEDCT_2005_07_31:47916000 disorder of arithmetical skills A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. Cardiovascular Trypanosomiasis Chagas' cardiomyopathy Chagas' disease cardiomyopathy Chagas' disease with heart involvement Chagas' disease with heart involvement (disorder) DOID:0050017 DOID:0050018 DOID:12569 acute chagas' disease with heart involvement chronic chagas' disease with heart involvement disease_ontology true Chagas' disease with heart involvement ICD9CM_2006:086.0 Chagas' disease with heart involvement (disorder) SNOMEDCT_2005_07_31:998008 A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. url:http://en.wikipedia.org/wiki/Chagas_disease Chagas' disease cardiomyopathy SNOMEDCT_2005_07_31:186812009 Cardiovascular Trypanosomiasis NCI2004_11_17:C34462 Transient hypertension of pregnancy DOID:1256 DOID:1257 DOID:12946 DOID:2259 Transient hypertension of pregnancy, with delivery antepartum transient hypertension of pregnancy disease_ontology postpartum transient hypertension of pregnancy true phacolytic glaucoma DOID:12570 ICD9CM:365.51 Phacolytic glaucoma (disorder) SNOMEDCT_US_2015_03_01:32893002 UMLS_CUI:C0152137 disease_ontology Phacolytic glaucoma (disorder) SNOMEDCT_2005_07_31:32893002 phacogenic glaucoma DOID:12571 ICD9CM:365.59 SNOMEDCT_US_2015_03_01:84333006 UMLS_CUI:C0154959 disease_ontology neonatal thyrotoxicosis DOID:12573 ICD10CM:P72.1 ICD9CM:775.3 Neonatal thyrotoxicosis (disorder) SNOMEDCT_US_2015_03_01:13795004 UMLS_CUI:C0158983 disease_ontology Neonatal thyrotoxicosis (disorder) SNOMEDCT_2005_07_31:13795004 posterior uveitis DOID:12574 MSH:D015866 NCI:C35111 Posterior Uveitis Posterior uveitis Posterior uveitis (disorder) Posterior uveitis NOS (disorder) SNOMEDCT_US_2015_03_01:193451001 SNOMEDCT_US_2015_03_01:43363007 SNOMEDCT_US_2015_03_01:46627006 UMLS_CUI:C0042167 Uveitis, posterior NOS disease_ontology Posterior uveitis SNOMEDCT_2005_07_31:46627006 Posterior uveitis NOS (disorder) SNOMEDCT_2005_07_31:193451001 NCI2004_11_17:C35111 Posterior Uveitis MTHICD9_2006:363.20 Uveitis, posterior NOS Posterior uveitis (disorder) SNOMEDCT_2005_07_31:43363007 urethral obstruction DOID:12577 MSH:D014524 NCI:C79804 Obstruction of urethra (disorder) SNOMEDCT_US_2015_03_01:95588004 UMLS_CUI:C0041972 disease_ontology Obstruction of urethra (disorder) SNOMEDCT_2005_07_31:95588004 Cri-Du-Chat syndrome 5p deletion syndrome 5p partial monosomy syndrome (disorder) Cri-du-chat syndrome DOID:12580 ICD10CM:Q93.4 ICD9CM:758.31 MSH:D003410 NCI:C34518 OMIM mapping confirmed by DO. [SN]. OMIM:123450 SNOMEDCT_US_2015_03_01:70173007 UMLS_CUI:C0010314 chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome disease_ontology Cri-du-chat syndrome ICD9CM_2006:758.31 5p deletion syndrome NCI2004_11_17:C34518 5p partial monosomy syndrome (disorder) SNOMEDCT_2005_07_31:70173007 CSP2005:1254-8011 chromosome 5 short arm deletion syndrome MTHICD9_2006:758.31 chromosome 5p deletion syndrome olecranon bursitis Bursitis of elbow Bursitis of elbow region Capped elbow (disorder) DOID:12581 Elbow bursitis (& olecranon) ICD10CM:M70.2 ICD9CM:726.33 Miner's elbow (disorder) Miners' elbow SNOMEDCT_US_2015_03_01:156680002 SNOMEDCT_US_2015_03_01:202930004 SNOMEDCT_US_2015_03_01:239968000 SNOMEDCT_US_2015_03_01:270542002 SNOMEDCT_US_2015_03_01:424548006 SNOMEDCT_US_2015_03_01:425940002 SNOMEDCT_US_2015_03_01:63517006 SNOMEDCT_US_2015_03_01:74859007 SNOMEDCT_US_2015_03_01:77299006 Shoe boil UMLS_CUI:C0263962 disease_ontology Miner's elbow (disorder) SNOMEDCT_2005_07_31:63517006 Elbow bursitis (& olecranon) SNOMEDCT_2005_07_31:156680002 Elbow bursitis (& olecranon) SNOMEDCT_2005_07_31:270542002 Capped elbow (disorder) SNOMEDCT_2005_07_31:74859007 Bursitis of elbow region SNOMEDCT_2005_07_31:239968000 MTHICD9_2006:727.2 Miners' elbow SNOMEDCT_2005_07_31:77299006 Shoe boil Bursitis of elbow MTHICD9_2006:726.33 enthesopathy of elbow DOID:12582 disease_ontology true velocardiofacial syndrome 22q11 Deletion Syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. DOID:12583 ICD10CM:Q93.81 ICD9CM:758.32 MSH:D004062 OMIM mapping confirmed by DO. [LS]. OMIM:192430 SNOMEDCT_US_2015_03_01:205642004 SNOMEDCT_US_2015_03_01:83092002 Shprintzen syndrome UMLS_CUI:C0220704 VCF-Velocardiofacial syndrome deletion 22q11.2 syndrome disease_ontology SNOMEDCT_2005_07_31:83092002 VCF-Velocardiofacial syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=PMID%3A+19243607 ICD9CM_2006:758.32 Shprintzen syndrome MTHICD9_2006:758.32 deletion 22q11.2 syndrome Diabetes mellitus of mother, with delivery DOID:12584 Diabetes mellitus during pregnancy - baby delivered (disorder) disease_ontology true Diabetes mellitus during pregnancy - baby delivered (disorder) SNOMEDCT_2005_07_31:199225007 Potter's syndrome An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. DOID:12594 Oligohydramnios sequence (disorder) Potter syndrome SNOMEDCT_US_2015_03_01:41962002 UMLS_CUI:C0178426 disease_ontology Oligohydramnios sequence (disorder) SNOMEDCT_2005_07_31:41962002 An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. url:http://en.wikipedia.org/wiki/Potter_Syndrome parametritis DOID:1260 MSH:D010249 SNOMEDCT_US_2015_03_01:198164005 SNOMEDCT_US_2015_03_01:198165006 SNOMEDCT_US_2015_03_01:280483007 SNOMEDCT_US_2015_03_01:37518008 UMLS_CUI:C0030455 disease_ontology pelvic cellulitis unspecified (disorder) SNOMEDCT_2005_07_31:198165006 pelvic cellulitis unspecified (disorder) acute leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. DOID:12603 DOID:12621 ICD10CM:C95.0 ICD10CM:C95.00 ICD9CM:208.0 NCI2009_04D:C9298 NCI:C9300 OMIM:308960 SNOMEDCT_US_2015_03_01:154599000 SNOMEDCT_US_2015_03_01:188763007 SNOMEDCT_US_2015_03_01:24072005 SNOMEDCT_US_2015_03_01:91855006 Stem cell Leukemia Stem cell leukaemia UMLS_CUI:C0085669 UMLS_CUI:C1378511 disease_ontology SNOMEDCT_2005_07_31:24072005 Stem cell leukaemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. url:http://en.wikipedia.org/wiki/Acute_leukemia url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html NCI2004_11_17:C9298 Stem cell Leukemia secondary malignant neoplasm of suprarenal gland DOID:12604 disease_ontology secondary malignant neoplasm of adrenal gland secondary malignant neoplasm of adrenal gland (disorder) true SNOMEDCT_2005_07_31:94161006 secondary malignant neoplasm of adrenal gland (disorder) ICD9CM_2006:198.7 secondary malignant neoplasm of adrenal gland metastasis to adrenals DOID:12605 disease_ontology metastatic tumor to the Adrenals true NCI2004_11_17:C8610 metastatic tumor to the Adrenals staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. DOID:12607 DOID:12608 Staphylococcus aureus pneumonia disease_ontology pneumonia due to staphylococcus aureus true A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13542104 AIDS-related pelvic inflammatory disease DOID:1261 disease_ontology true adrenal hemorrhage of fetus or newborn DOID:12610 disease_ontology true gastrointestinal hemorrhage of fetus or newborn DOID:12612 disease_ontology true cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. Cervicofacial actinomycotic infection DOID:12633 Lumpy jaw disease_ontology true Lumpy jaw SNOMEDCT_2005_07_31:398697005 Cervicofacial actinomycotic infection ICD9CM_2006:039.3 An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. url:http://emedicine.medscape.com/article/211587-overview url:http://www.scipub.org/fulltext/ajid/ajid43204-208.pdf cerebral actinomycosis Actinomycotic Cerebral abscess Actinomycotic brain abscess (disorder) An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. DOID:12634 cerebral actinomycoma disease_ontology true An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. url:http://journals.lww.com/smajournalonline/Citation/1965/02000/Cerebral_Abscess_due_to_Actinomyces_Israeli.18.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/18603353 Actinomycotic Cerebral abscess NCI2004_11_17:C27100 Actinomycotic brain abscess (disorder) SNOMEDCT_2005_07_31:230209006 perineocele DOID:12637 ICD10CM:N81.81 ICD9CM:618.05 UMLS_CUI:C1456251 disease_ontology hypertrophic pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. DOID:12638 ICD10CM:Q40.0 ICD9CM:750.5 MSH:D046248 NCI:C98952 OMIM:179010 OMIM:300711 OMIM:610260 OMIM:612017 OMIM:612525 SNOMEDCT_US_2015_03_01:48644003 UMLS_CUI:C0700639 Xref MGI. congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus disease_ontology A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. url:http://en.wikipedia.org/wiki/Pyloric_stenosis MTHICD9_2006:750.5 congenital or infantile stricture of pylorus pyloric stenosis DOID:12639 ICD10CM:K31.1 MSH:D011707 NCI:C34966 SNOMEDCT_US_2015_03_01:367403001 UMLS_CUI:C0034194 disease_ontology displacement of cardia through esophageal hiatus Congenital hiatus hernia Congenital hiatus hernia (disorder) DOID:12641 ICD10CM:Q40.1 ICD9CM:750.6 SNOMEDCT_US_2015_03_01:47028006 UMLS_CUI:C0158674 disease_ontology Congenital hiatus hernia ICD9CM_2006:750.6 Congenital hiatus hernia (disorder) SNOMEDCT_2005_07_31:47028006 hiatus hernia DOID:12642 Diaphragmatic - hiatus -hernia Hiatal hernia (disorder) Hiatus hernia ICD10CM:K44 MSH:D006551 NCI:C98945 OMIM mapping confirmed by DO. [SN]. OMIM:142400 SNOMEDCT_US_2015_03_01:155748004 SNOMEDCT_US_2015_03_01:196901006 SNOMEDCT_US_2015_03_01:196910003 SNOMEDCT_US_2015_03_01:196914007 SNOMEDCT_US_2015_03_01:236053002 SNOMEDCT_US_2015_03_01:266511003 SNOMEDCT_US_2015_03_01:309811003 SNOMEDCT_US_2015_03_01:3662000 SNOMEDCT_US_2015_03_01:84089009 UMLS_CUI:C0267725 UMLS_CUI:C0376710 UMLS_CUI:C3489393 disease_ontology hiatal hernia Hiatus hernia SNOMEDCT_2005_07_31:196901006 Diaphragmatic - hiatus -hernia SNOMEDCT_2005_07_31:155748004 Diaphragmatic - hiatus -hernia SNOMEDCT_2005_07_31:266511003 CSP2005:1248-5846 hiatal hernia Hiatal hernia (disorder) SNOMEDCT_2005_07_31:84089009 CSP2005:1250-7954 hiatal hernia CSP2005:0944-5779 hiatal hernia Congenital or acquired abnormality of vulva, with delivery DOID:12647 disease_ontology true genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. DOID:1265 disease_ontology true An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. url:http://en.wikipedia.org/wiki/Genitourinary_system url:http://en.wikipedia.org/wiki/Urogenital_neoplasm disorder of optic chiasm associated with inflammatory disorder DOID:12651 disease_ontology true vestibulocochlear nerve disease Acoustic nerve disorder NOS (disorder) DOID:12657 ICD10CM:H93.3 ICD10CM:H93.3X ICD9CM:388.5 MSH:D000160 NCI:C27207 SNOMEDCT_US_2015_03_01:194402005 SNOMEDCT_US_2015_03_01:77949003 UMLS_CUI:C0001163 Vestibulocochlear nerve disorder disease_ontology disorder of acoustic nerve disorder of acoustic nerve (disorder) disorder of acoustic or eighth nerve Acoustic nerve disorder NOS (disorder) SNOMEDCT_2005_07_31:194402005 SNOMEDCT_2005_07_31:77949003 disorder of acoustic nerve (disorder) ICD9CM_2006:388.5 disorder of acoustic nerve NCI2004_11_17:C27207 Vestibulocochlear nerve disorder MTHICD9_2006:388.5 disorder of acoustic or eighth nerve tooth ankylosis Ankylosis of teeth Ankylosis of tooth (disorder) DOID:12661 ICD10CM:K03.5 ICD9CM:521.6 MSH:D020254 OMIM mapping confirmed by DO. [LS]. OMIM:157950 SNOMEDCT_US_2015_03_01:14901003 UMLS_CUI:C0155930 disease_ontology Ankylosis of tooth (disorder) SNOMEDCT_2005_07_31:14901003 Ankylosis of teeth ICD9CM_2006:521.6 paracoccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. DOID:12662 ICD10CM:B41 ICD10CM:B41.9 ICD9CM:116.1 MSH:D010229 Mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder) NCI:C34891 Paracoccidioidomycosis (disorder) Paracoccidioidomycosis NOS (disorder) Paracoccidioidomycosis, unspecified (disorder) SNOMEDCT_US_2015_03_01:187074005 SNOMEDCT_US_2015_03_01:187486002 SNOMEDCT_US_2015_03_01:36866003 SNOMEDCT_US_2015_03_01:59925007 UMLS_CUI:C0030409 disease_ontology paracoccidioidal mycosis MTHICD9_2006:116.1 Mucocutaneous-lymphangitic paracoccidioidomycosis CSP2005:1988-4119 paracoccidioidal mycosis Paracoccidioidomycosis (disorder) SNOMEDCT_2005_07_31:59925007 A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ Paracoccidioidomycosis NOS (disorder) SNOMEDCT_2005_07_31:187074005 Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder) SNOMEDCT_2005_07_31:36866003 Paracoccidioidomycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187486002 blastomycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. Blastomyces Dermatitidis Infection Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) Blastomycosis NOS (disorder) Blastomycosis, unspecified (disorder) Blastomycotic infection CSP:1988-4119 Chicago disease Chicago disease (disorder) DOID:12663 DOID:13067 Gilchrist's disease (disorder) ICD10CM:B40 ICD10CM:B40.9 ICD9CM:116 ICD9CM:116.0 Infection by Blastomyces dermatitidis (disorder) MSH:D001759 NCI:C34428 NCI:C34429 North American blastomycosis SNOMEDCT_US_2015_03_01:10673008 SNOMEDCT_US_2015_03_01:154402000 SNOMEDCT_US_2015_03_01:187064007 SNOMEDCT_US_2015_03_01:187071002 SNOMEDCT_US_2015_03_01:187075006 SNOMEDCT_US_2015_03_01:187484004 SNOMEDCT_US_2015_03_01:191950004 SNOMEDCT_US_2015_03_01:266217003 SNOMEDCT_US_2015_03_01:69996000 UMLS_CUI:C0005716 disease_ontology Blastomycotic infection ICD9CM_2006:116 Blastomycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187484004 Chicago disease MTHICD9_2006:116.0 MTH:NOCODE North American blastomycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. url:http://en.wikipedia.org/wiki/Blastomycosis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Gilchrist's disease (disorder) SNOMEDCT_2005_07_31:189622001 Infection by Blastomyces dermatitidis (disorder) SNOMEDCT_2005_07_31:191950004 Blastomyces Dermatitidis Infection NCI2004_11_17:C34429 Blastomycosis NOS (disorder) SNOMEDCT_2005_07_31:187071002 Chicago disease (disorder) SNOMEDCT_2005_07_31:190196003 Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) SNOMEDCT_2005_07_31:187064007 binocular vision disease DOID:12667 DOID:12671 ICD10CM:H53.30 ICD9CM:368.30 NCI:C34422 SNOMEDCT_US_2015_03_01:193658001 SNOMEDCT_US_2015_03_01:83275001 UMLS_CUI:C0005461 disease_ontology simultaneous visual perception without fusion abnormal retinal correspondence DOID:12668 ICD10CM:H53.31 ICD9CM:368.34 SNOMEDCT_US_2015_03_01:79195003 UMLS_CUI:C0155010 abnormal retinal correspondence (disorder) disease_ontology SNOMEDCT_2005_07_31:79195003 abnormal retinal correspondence (disorder) fusion with defective stereopsis DOID:12670 Fusion with defective stereopsis (disorder) disease_ontology true Fusion with defective stereopsis (disorder) SNOMEDCT_2005_07_31:32919003 hypercalcemia DOID:12678 ICD10CM:E83.52 ICD9CM:275.42 MSH:D006934 NCI:C3112 SNOMEDCT_US_2015_03_01:154752005 SNOMEDCT_US_2015_03_01:166702002 SNOMEDCT_US_2015_03_01:267505006 SNOMEDCT_US_2015_03_01:66931009 UMLS_CUI:C0020437 disease_ontology nephrocalcinosis DOID:12679 MSH:D009397 NCI:C84918 SNOMEDCT_US_2015_03_01:154752005 SNOMEDCT_US_2015_03_01:190863003 SNOMEDCT_US_2015_03_01:267505006 SNOMEDCT_US_2015_03_01:48638002 UMLS_CUI:C0027709 disease_ontology pseudobulbar palsy DOID:12680 ICD9CM:335.23 MSH:D020828 Pseudobulbar palsy Pseudobulbar palsy (disorder) SNOMEDCT_US_2015_03_01:7379000 UMLS_CUI:C0033790 disease_ontology pseudobulbar paralysis Pseudobulbar palsy (disorder) SNOMEDCT_2005_07_31:7379000 CSP2005:4000-0300 pseudobulbar paralysis ICD9CM_2006:335.23 Pseudobulbar palsy vestibular neuronitis A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. DOID:12683 Epidemic neurolabyrinthitis ICD10CM:A88.1 ICD10CM:H81.2 ICD10CM:H81.20 ICD9CM:078.81 ICD9CM:386.12 MSH:D020338 SNOMEDCT_US_2015_03_01:123053001 SNOMEDCT_US_2015_03_01:155236001 SNOMEDCT_US_2015_03_01:186738001 SNOMEDCT_US_2015_03_01:194356004 SNOMEDCT_US_2015_03_01:232293008 SNOMEDCT_US_2015_03_01:34243007 SNOMEDCT_US_2015_03_01:43680000 UMLS_CUI:C0751908 Vestibular neuritis disease_ontology SNOMEDCT_2005_07_31:186738001 Vestibular neuritis Epidemic neurolabyrinthitis SNOMEDCT_2005_07_31:43680000 A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. url:http://en.wikipedia.org/wiki/Vestibular_neuritis url:http://www.ncbi.nlm.nih.gov/pubmed/16448876 mixed receptive-expressive language disorder A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. DOID:12685 ICD10CM:F80.2 ICD9CM:315.32 NCI:C92563 SNOMEDCT_US_2015_03_01:25766007 UMLS_CUI:C0236827 disease_ontology A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder acoustic neuroma CSP:2012-6947 DOID:12689 MSH:D009464 NCI:C3276 SNOMEDCT_US_2015_03_01:126949007 SNOMEDCT_US_2015_03_01:154621002 SNOMEDCT_US_2015_03_01:269643009 SNOMEDCT_US_2015_03_01:389982003 SNOMEDCT_US_2015_03_01:985004 UMLS_CUI:C0027859 Vestibular Neurilemmoma Vestibular schwannoma disease_ontology NCI2004_11_17:C3276 Vestibular Neurilemmoma SNOMEDCT_2005_07_31:389982003 Vestibular schwannoma thyroid gland tuberculosis DOID:1269 disease_ontology true tuberculosis of thyroid gland hyperemesis gravidarum with metabolic disturbance DOID:12694 DOID:12695 DOID:12696 disease_ontology hyperemesis gravidarum with metabolic disturbance - delivered (disorder) hyperemesis gravidarum with metabolic disturbance, antepartum hyperemesis gravidarum with metabolic disturbance, delivered true SNOMEDCT_2005_07_31:199027009 hyperemesis gravidarum with metabolic disturbance - delivered (disorder) locked-in syndrome DOID:12697 ICD10CM:G83.5 ICD9CM:344.81 Locked in syndrome (disorder) Locked-in state MSH:D011782 SNOMEDCT_US_2015_03_01:38023001 UMLS_CUI:C0023944 disease_ontology Locked in syndrome (disorder) SNOMEDCT_2005_07_31:38023001 ICD9CM_2006:344.81 Locked-in state gynecomastia DOID:12698 ICD10CM:N62 MSH:D006177 NCI:C3073 SNOMEDCT_US_2015_03_01:155963008 SNOMEDCT_US_2015_03_01:198112004 SNOMEDCT_US_2015_03_01:266646002 SNOMEDCT_US_2015_03_01:4754008 UMLS_CUI:C0018418 disease_ontology leiomyoma A cell type benign neoplasm that is a benign tumor of smooth muscle cells. DOID:127 MSH:D007889 NCI:C3157 SNOMEDCT_US_2015_03_01:189787000 SNOMEDCT_US_2015_03_01:189788005 SNOMEDCT_US_2015_03_01:189793008 SNOMEDCT_US_2015_03_01:702978006 UMLS_CUI:C0023267 disease_ontology leiomyomatous neoplasm (morphologic abnormality) leiomyomatous tumor SNOMEDCT_2005_07_31:189787000 leiomyomatous neoplasm (morphologic abnormality) A cell type benign neoplasm that is a benign tumor of smooth muscle cells. url:http://en.wikipedia.org/wiki/Cancer url:http://en.wikipedia.org/wiki/Leiomyoma NCI2004_11_17:C3157 leiomyomatous tumor hereditary hemorrhagic telangiectasia An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. DOID:1270 ICD10CM:I78.0 ICD9CM:448.0 MSH:D013683 NCI:C35064 OMIM:187300 OMIM:600376 OMIM:600655 OMIM:601101 OMIM:615506 ORDO:774 Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease SNOMEDCT_US_2015_03_01:155449008 SNOMEDCT_US_2015_03_01:21877004 SNOMEDCT_US_2015_03_01:266324004 UMLS_CUI:C0039445 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology MTHICD9_2006:448.0 Rendu-Osler-Weber disease An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. url:http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia url:http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia url:http://www.ncbi.nlm.nih.gov/books/NBK1351/ NCI2004_11_17:C35064 Osler-Weber-Rendu disease hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. Chiari-Frommel syndrome DOID:12699 DOID:12700 ICD10CM:E22.1 MSH:D002640 MSH:D006966 NCI:C113168 Pregnancy-related A-G syndrome (disorder) SNOMEDCT_US_2015_03_01:190468001 SNOMEDCT_US_2015_03_01:21170004 SNOMEDCT_US_2015_03_01:237662005 SNOMEDCT_US_2015_03_01:367422005 SNOMEDCT_US_2015_03_01:85039006 UMLS_CUI:C0008043 UMLS_CUI:C0020514 disease_ontology hyperprolactinaemia Pregnancy-related A-G syndrome (disorder) SNOMEDCT_2005_07_31:85039006 SNOMEDCT_2005_07_31:190468001 hyperprolactinaemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. url:http://en.wikipedia.org/wiki/Hyperprolactinemia Rotator cuff shoulder syndrome and allied disorder DOID:12702 disease_ontology true ataxia telangiectasia Boder-Sedgwick syndrome DOID:12704 Louis Bar syndrome MSH:D001260 NCI:C2887 OMIM mapping confirmed by DO. [SN]. OMIM:208900 SNOMEDCT_US_2015_03_01:68504005 UMLS_CUI:C0004135 disease_ontology CSP2005:0485-2495 Louis Bar syndrome Friedreich ataxia DOID:0050555 DOID:12705 Friedreich ataxia 1 Friedreich's ataxia Friedreich's tabes ICD9CM:334.0 MSH:D005621 NCI:C84718 OMIM:229300 OMIM:601992 SNOMEDCT_US_2015_03_01:10394003 SNOMEDCT_US_2015_03_01:155011003 UMLS_CUI:C0016719 Xref MGI. disease_ontology CSP2005:0485-3493 Friedreich's tabes Friedreich's ataxia ICD9CM_2006:334.0 myoclonic cerebellar dyssynergia DOID:12707 Dyssynergia cerebellaris myoclonica ICD10CM:G11.1 MSH:D002527 OMIM mapping confirmed by DO. [SN]. OMIM:213400 SNOMEDCT_US_2015_03_01:192871008 SNOMEDCT_US_2015_03_01:41009006 SNOMEDCT_US_2015_03_01:73495003 UMLS_CUI:C0007761 disease_ontology progressive cerebellar tremor Dyssynergia cerebellaris myoclonica MTHICD9_2006:334.2 SNOMEDCT_2005_07_31:41009006 progressive cerebellar tremor capillary disease A vascular disease that is located_in the capillaries. DOID:1271 ICD10CM:I78 ICD10CM:I78.9 ICD9CM:448 SNOMEDCT_US_2015_03_01:155446001 SNOMEDCT_US_2015_03_01:155449008 SNOMEDCT_US_2015_03_01:195250004 SNOMEDCT_US_2015_03_01:195380006 SNOMEDCT_US_2015_03_01:195390003 SNOMEDCT_US_2015_03_01:266324004 SNOMEDCT_US_2015_03_01:57223003 SNOMEDCT_US_2015_03_01:58729003 UMLS_CUI:C0155765 disease of capillaries disease_ontology A vascular disease that is located_in the capillaries. url:http://en.wikipedia.org/wiki/Capillary#Pathophysiology Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. DOID:12710 disease_ontology pulmonary African histoplasmosis (disorder) true SNOMEDCT_2005_07_31:187052004 pulmonary African histoplasmosis (disorder) An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf black piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. DOID:12711 ICD10CM:B36.3 ICD9CM:111.3 MSH:D010854 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:33666009 SNOMEDCT_US_2015_03_01:402135006 UMLS_CUI:C0031898 UMLS_CUI:C0153249 disease_ontology A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. url:http://en.wikipedia.org/wiki/Black_piedra url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/ nephronophthisis An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). DOID:12712 ICD10CM:Q61.5 OMIM:256100 OMIM:602088 OMIM:604387 OMIM:606966 OMIM:611498 OMIM:613159 OMIM:613550 OMIM:613820 OMIM:613824 OMIM:614377 OMIM:614844 OMIM:614845 OMIM:615382 OMIM:615862 OMIM:616217 ORDO:655 SNOMEDCT_US_2015_03_01:204958008 SNOMEDCT_US_2015_03_01:204961009 UMLS_CUI:C0687120 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology medullary cystic disease medullary cystic kidney An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ ICD9CM_2006:753.16 medullary cystic kidney medullary sponge kidney DOID:12713 Medullary Sponge kidney Medullary sponge kidney (disorder) Sponge kidney disease_ontology true SNOMEDCT_2005_07_31:82525005 Sponge kidney Medullary sponge kidney (disorder) SNOMEDCT_2005_07_31:236443009 SNOMEDCT_2005_07_31:204954005 Sponge kidney Medullary Sponge kidney NCI2004_11_17:C34751 Ellis-Van Creveld syndrome Chondroectodermal dysplasia Chondroectodermal dysplasia (disorder) DOID:12714 Ellis-van Creveld syndrome ICD10CM:Q77.6 ICD9CM:756.55 MSH:D004613 NCI:C84684 OMIM mapping confirmed by DO. [SN]. OMIM:225500 SNOMEDCT_US_2015_03_01:62501005 UMLS_CUI:C0013903 disease_ontology Ellis-van Creveld syndrome MTHICD9_2006:756.55 Chondroectodermal dysplasia ICD9CM_2006:756.55 Chondroectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:62501005 infectious myositis DOID:12715 Infective Myositis Infective myositis Infective myositis (disorder) disease_ontology true ICD9CM_2006:728.0 Infective myositis Infective myositis (disorder) SNOMEDCT_2005_07_31:29689003 Infective myositis SNOMEDCT_2005_07_31:203008007 Infective Myositis NCI2004_11_17:C26984 Infective myositis SNOMEDCT_2005_07_31:156719002 newborn respiratory distress syndrome A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. DOID:11395 DOID:12716 DOID:13859 HMD - Hyaline membrane disease ICD10CM:P22.0 MSH:D006819 Neonatal respiratory Distress syndrome OMIM:267450 SNOMEDCT_US_2015_03_01:206281003 SNOMEDCT_US_2015_03_01:26168007 SNOMEDCT_US_2015_03_01:46775006 UMLS_CUI:C0020192 disease_ontology hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome SNOMEDCT_2005_07_31:157107007 respiratory distress syndrome of newborn NCI2004_11_17:C27560 Neonatal respiratory Distress syndrome CSP2005:0726-3340 hyaline membrane disease HMD - Hyaline membrane disease SNOMEDCT_2005_07_31:46775006 SNOMEDCT_2005_07_31:206281003 pulmonary hypoperfusion syndrome of newborn MTHICD9_2006:769 pulmonary hyaline membrane disease chronic gonococcal salpingitis DOID:12718 Gonococcal salpingitis Gonococcal salpingitis (chronic) ICD9CM:098.37 SNOMEDCT_US_2015_03_01:53529004 UMLS_CUI:C0153208 chronic gonococcal salpingitis (disorder) disease_ontology SNOMEDCT_2005_07_31:53529004 chronic gonococcal salpingitis (disorder) Gonococcal salpingitis MTHICD9_2006:098.37 Gonococcal salpingitis (chronic) ICD9CM_2006:098.37 telangiectasis DOID:1272 MSH:D013684 NCI:C28194 SNOMEDCT_US_2015_03_01:112641009 SNOMEDCT_US_2015_03_01:155449008 SNOMEDCT_US_2015_03_01:247479008 SNOMEDCT_US_2015_03_01:266324004 SNOMEDCT_US_2015_03_01:276328002 UMLS_CUI:C0039446 disease_ontology telangiectasia NCI2004_11_17:C28194 telangiectasia cerebral atherosclerosis Cerebral atherosclerosis Cerebral atherosclerosis (disorder) DOID:12720 ICD10CM:I67.2 ICD9CM:437.0 MSH:D002537 NCI:C34459 SNOMEDCT_US_2015_03_01:195220007 SNOMEDCT_US_2015_03_01:266258005 SNOMEDCT_US_2015_03_01:55382008 UMLS_CUI:C0007775 disease_ontology Cerebral atherosclerosis SNOMEDCT_2005_07_31:195220007 Cerebral atherosclerosis (disorder) SNOMEDCT_2005_07_31:55382008 Cerebral atherosclerosis SNOMEDCT_2005_07_31:266258005 Cerebral atherosclerosis ICD9CM_2006:437.0 multiple epiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. DOID:12721 ICD9CM:756.56 MSH:D010009 OMIM:132400 OMIM:226900 OMIM:600204 OMIM:600959 OMIM:607078 OMIM:614135 ORDO:251 SNOMEDCT_US_2015_03_01:205504001 SNOMEDCT_US_2015_03_01:59708000 UMLS_CUI:C0026760 Xref MGI. disease_ontology polyepiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. url:http://emedicine.medscape.com/article/1259038-overview url:http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia url:http://www.healthline.com/galecontent/multiple-epiphyseal-dysplasia url:http://www.wheelessonline.com/ortho/multiple_epiphyseal_dysplasia liver metastasis DOID:12722 disease_ontology malignant neoplasm of liver, specified as secondary metastasis to liver metastatic tumor to the Liver secondary malignant neoplasm of liver (disorder) true ICD9CM_2006:197.7 malignant neoplasm of liver, specified as secondary NCI2004_11_17:C4758 metastatic tumor to the Liver SNOMEDCT_2005_07_31:187780009 metastasis to liver SNOMEDCT_2005_07_31:94381002 secondary malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:154568001 metastasis to liver lung carcinoma metastatic to the liver DOID:12723 disease_ontology true breast arcinoma metastatic to the liver DOID:12724 disease_ontology true retroverted incarcerated gravid uterus DOID:12727 DOID:12728 DOID:12729 DOID:12730 Retroverted and incarcerated gravid uterus, delivered Retroverted incarcerated gravid uterus - delivered Retroverted incarcerated gravid uterus - delivered (disorder) antepartum retroverted and incarcerated gravid uterus disease_ontology postpartum retroverted and incarcerated gravid uterus true Retroverted incarcerated gravid uterus - delivered (disorder) SNOMEDCT_2005_07_31:199468005 ICD9CM_2006:654.31 Retroverted and incarcerated gravid uterus, delivered respiratory syncytial virus infectious disease A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. DOID:1273 MSH:D018357 NCI:C3354 SNOMEDCT_US_2015_03_01:186750007 SNOMEDCT_US_2015_03_01:55735004 UMLS_CUI:C0035235 disease_ontology A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. url:http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g pars planitis DOID:12731 ICD10CM:H30.2 ICD9CM:363.21 MSH:D015868 NCI:C34903 OMIM mapping confirmed by DO. [SN]. OMIM:606177 Posterior cyclitis SNOMEDCT_US_2015_03_01:193452008 SNOMEDCT_US_2015_03_01:314428001 SNOMEDCT_US_2015_03_01:45688009 UMLS_CUI:C0030593 disease_ontology Posterior cyclitis SNOMEDCT_2005_07_31:193452008 intermediate uveitis DOID:12732 MSH:D015867 NCI:C35110 SNOMEDCT_US_2015_03_01:155118006 SNOMEDCT_US_2015_03_01:193491003 SNOMEDCT_US_2015_03_01:308126005 SNOMEDCT_US_2015_03_01:314429009 SNOMEDCT_US_2015_03_01:398322000 UMLS_CUI:C0042166 chronic cyclitis disease_ontology peripheral uveoretinitis SNOMEDCT_2005_07_31:314429009 peripheral uveoretinitis SNOMEDCT_2005_07_31:308126005 chronic cyclitis hypercementosis Cementation hyperplasia DOID:12733 ICD10CM:K03.4 ICD9CM:521.5 MSH:D006936 SNOMEDCT_US_2015_03_01:78537008 UMLS_CUI:C0020441 disease_ontology hypercementosis (disorder) SNOMEDCT_2005_07_31:78537008 hypercementosis (disorder) Cementation hyperplasia MTHICD9_2006:521.5 hernia of ovary and fallopian tube DOID:12735 ICD10CM:N83.4 ICD9CM:620.4 UMLS_CUI:C0495094 disease_ontology bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. DOID:12739 disease_ontology true A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. url:http://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. DOID:1275 disease_ontology true A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. url:http://expasy.org/viralzone/all_by_species/90.html cyclosporiasis A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. DOID:12750 ICD10CM:A07.4 ICD9CM:007.5 MSH:D021866 SNOMEDCT_US_2015_03_01:240372001 UMLS_CUI:C0343398 disease_ontology A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. url:http://www.dpd.cdc.gov/DPDx/HTML/Cyclosporiasis.htm corneal staphyloma Corneal staphyloma (disorder) DOID:12753 ICD10CM:H18.72 ICD9CM:371.73 SNOMEDCT_US_2015_03_01:193849005 SNOMEDCT_US_2015_03_01:52476003 UMLS_CUI:C0152440 disease_ontology Corneal staphyloma (disorder) SNOMEDCT_2005_07_31:52476003 lacrimal duct cancer DOID:12756 ICD9CM:190.7 NCI:C3567 SNOMEDCT_US_2015_03_01:188274004 SNOMEDCT_US_2015_03_01:188275003 SNOMEDCT_US_2015_03_01:93852003 UMLS_CUI:C0153631 disease_ontology malignant neoplasm of lacrimal duct malignant neoplasm of lacrimal duct NOS (disorder) malignant tumor of lacrimal duct SNOMEDCT_2005_07_31:188275003 malignant neoplasm of lacrimal duct NOS (disorder) NCI2004_11_17:C3567 malignant tumor of lacrimal duct ICD9CM_2006:190.7 malignant neoplasm of lacrimal duct SNOMEDCT_2005_07_31:93852003 malignant neoplasm of lacrimal duct malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid DOID:12758 disease_ontology malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder) malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid true ICD9CM_2006:190.0 malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid SNOMEDCT_2005_07_31:188261005 malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder) choroid cancer Choroidal tumor DOID:12759 DOID:12760 ICD10CM:C69.3 ICD9CM:190.6 MSH:D002830 NCI:C2949 NCI:C3566 SNOMEDCT_US_2015_03_01:127001008 SNOMEDCT_US_2015_03_01:363466008 SNOMEDCT_US_2015_03_01:93755007 UMLS_CUI:C0008523 UMLS_CUI:C0153630 choroid neoplasm disease_ontology malignant tumor of choroid (disorder) malignant tumor of the Choroid neoplasm of choroid (disorder) NCI2004_11_17:C3566 malignant tumor of the Choroid Choroidal tumor NCI2004_11_17:C2949 SNOMEDCT_2005_07_31:363466008 malignant tumor of choroid (disorder) SNOMEDCT_2005_07_31:127001008 neoplasm of choroid (disorder) classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. DOID:12763 Kaposi's sarcoma Classical type disease_ontology true A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. url:http://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2 Kaposi's sarcoma Classical type NCI2004_11_17:C9112 peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "hot potato voice" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. DOID:12765 Peritonsillar abscess Peritonsillar abscess (disorder) Quinsy disease_ontology true A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "hot potato voice" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. url:http://en.wikipedia.org/wiki/Peritonsillar_abscess Peritonsillar abscess (disorder) SNOMEDCT_2005_07_31:15033003 Peritonsillar abscess SNOMEDCT_2005_07_31:155534002 ICD9CM_2006:475 Peritonsillar abscess MTHICD9_2006:475 Quinsy endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. DOID:12773 disease_ontology true A Kaposi's sarcoma that is located_in black Africans. url:http://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009 url:http://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. DOID:12779 disease_ontology recurrent Multiple Hemorrhagic sarcoma true A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. url:http://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116 NCI2004_11_17:C7935 recurrent Multiple Hemorrhagic sarcoma tolosa-hunt syndrome DOID:1278 MSH:D020333 NCI:C85193 SNOMEDCT_US_2015_03_01:75111000 SNOMEDCT_US_2015_03_01:95794005 Tolosa-Hunt syndrome Tolosa-Hunt syndrome (disorder) UMLS_CUI:C0040381 disease_ontology SNOMEDCT_2005_07_31:95794005 Tolosa-Hunt syndrome (disorder) SNOMEDCT_2005_07_31:75111000 Tolosa-Hunt syndrome cicatricial ectropion DOID:12782 ICD9CM:374.14 SNOMEDCT_US_2015_03_01:28914006 UMLS_CUI:C0155196 disease_ontology migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura. DOID:12783 ICD10CM:G43.0 ICD10CM:G43.009 ICD9CM:346.1 MSH:D020326 OMIM:607501 SNOMEDCT_US_2015_03_01:193027003 SNOMEDCT_US_2015_03_01:193029000 SNOMEDCT_US_2015_03_01:56097005 UMLS_CUI:C0338480 Xref MGI. common migraine disease_ontology A migraine that is characterized by migraine headaches that are not accompanied by an aura. url:http://en.wikipedia.org/wiki/Migraine diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations DOID:12784 Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations disease_ontology true Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations MTHICD9_2006:250.61 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations ICD9CM_2006:250.61 diabetic polyneuropathy DOID:12785 Diabetes mellitus with polyneuropathy Diabetic polyneuropathy (disorder) ICD9CM:357.2 MSH:D003929 Polyneuropathy in diabetes SNOMEDCT_US_2015_03_01:190349003 SNOMEDCT_US_2015_03_01:193182005 SNOMEDCT_US_2015_03_01:49455004 UMLS_CUI:C0271680 disease_ontology ICD9CM_2006:357.2 Polyneuropathy in diabetes Diabetes mellitus with polyneuropathy SNOMEDCT_2005_07_31:190349003 Diabetic polyneuropathy (disorder) SNOMEDCT_2005_07_31:49455004 Polyneuropathy in diabetes SNOMEDCT_2005_07_31:193182005 ocular motility disease DOID:1279 ICD9CM:378.9 MSH:D015835 SNOMEDCT_US_2015_03_01:45030009 UMLS_CUI:C0028850 Unspecified disorder of eye movements disease_ontology disorder of eye movements (disorder) eye movement disorder ICD9CM_2006:378.9 Unspecified disorder of eye movements SNOMEDCT_2005_07_31:45030009 disorder of eye movements (disorder) CSP2005:1115-2778 eye movement disorder Posterior synechiae DOID:12796 Posterior synechiae (disorder) Posterior synechiae of iris disease_ontology true Posterior synechiae (disorder) SNOMEDCT_2005_07_31:111512005 ICD9CM_2006:364.71 Posterior synechiae of iris hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. DOID:12797 ICD10CM:F16.1 ICD9CM:305.3 SNOMEDCT_US_2015_03_01:74851005 UMLS_CUI:C0018526 disease_ontology A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Hallucinogen mucopolysaccharidosis A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. DOID:12798 DOID:14716 ICD10CM:E76.3 ICD9CM:277.5 MSH:D009083 NCI:C61259 OMIM:252700 OMIM:607014 ORDO:79213 SNOMEDCT_US_2015_03_01:11380006 SNOMEDCT_US_2015_03_01:190936000 SNOMEDCT_US_2015_03_01:190942001 SNOMEDCT_US_2015_03_01:267452003 UMLS_CUI:C0026703 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. disease_ontology A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. DOID:12799 Hunter syndrome Hunter's syndrome ICD10CM:E76.1 MPS II - Hunter syndrome MSH:D016532 Mucopolysaccharidosis, MPS-II (disorder) NCI:C61260 OMIM mapping submitted by NeuroDevNet. [LS]. OMIM:309900 SNOMEDCT_US_2015_03_01:190936000 SNOMEDCT_US_2015_03_01:61413000 SNOMEDCT_US_2015_03_01:70737009 UMLS_CUI:C0026705 deficiency of iduronate-2-sulphatase disease_ontology Hunter's syndrome SNOMEDCT_2005_07_31:190936000 Mucopolysaccharidosis, MPS-II (disorder) SNOMEDCT_2005_07_31:70737009 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. url:http://en.wikipedia.org/wiki/Hunter_syndrome SNOMEDCT_2005_07_31:61413000 deficiency of iduronate-2-sulphatase vaginal soft tissue tumor DOID:128 disease_ontology true mucopolysaccharidosis VI A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. DOID:12800 MPS VI - Maroteaux-Lamy syndrome MSH:D009087 Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome NCI:C61264 OMIM mapping confirmed by DO. [SN]. OMIM:253200 SNOMEDCT_US_2015_03_01:190936000 SNOMEDCT_US_2015_03_01:52677002 SNOMEDCT_US_2015_03_01:69463008 UMLS_CUI:C0026709 arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase (disorder) disease_ontology MTHICD9_2006:277.5 Maroteaux-Lamy syndrome CSP2005:1849-6512 arylsulfatase B deficiency SNOMEDCT_2005_07_31:52677002 deficiency of N-acetylgalactosamine-4-sulfatase (disorder) A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome Maroteaux - Lamy syndrome SNOMEDCT_2005_07_31:190936000 mucopolysaccharidosis III A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. DOID:12801 DOID:14729 DOID:14788 HEPARAN SULFATE SULFATASE DEFICIENCY ICD10CM:E76.22 MPS IIIA - Sanfilippo syndrome A MPS IIIB - Sanfilippo syndrome B MPS IIIC - Sanfilippo syndrome C MPS IIID - Sanfilippo syndrome D MSH:D009084 Mucopolysaccharidosis, MPS-III Mucopolysaccharidosis, MPS-III-B (disorder) N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY N-sulphoglucosamine sulphohydrolase deficiency NAGLU DEFICIENCY NCI:C61262 NCI:C84897 NCI:C84898 OMIM mapping confirmed by DO. [SN]. OMIM:252900 OMIM:252920 OMIM:252930 OMIM:252940 SANFILIPPO SYNDROME A SANFILIPPO SYNDROME B SNOMEDCT_US_2015_03_01:190936000 SNOMEDCT_US_2015_03_01:254070003 SNOMEDCT_US_2015_03_01:254071004 SNOMEDCT_US_2015_03_01:41572006 SNOMEDCT_US_2015_03_01:59990008 SNOMEDCT_US_2015_03_01:88393000 Sanfilippo's syndrome UMLS_CUI:C0026706 UMLS_CUI:C0086647 UMLS_CUI:C0086648 disease_ontology mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB Mucopolysaccharidosis, MPS-III SNOMEDCT_2005_07_31:88393000 N-sulphoglucosamine sulphohydrolase deficiency SNOMEDCT_2005_07_31:41572006 MTHICD9_2006:277.5 Sanfilippo's syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome Mucopolysaccharidosis, MPS-III-B (disorder) SNOMEDCT_2005_07_31:59990008 SNOMEDCT_2005_07_31:190936000 Sanfilippo's syndrome mucopolysaccharidosis I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. DOID:12802 Hurler syndrome Hurler-Scheie syndrome ICD10CM:E76.0 Lipochondrodystrophy MPS I - Hurler syndrome MSH:D008059 Mucopolysaccharidosis, MPS-I (disorder) Mucopolysaccharidosis, type 1 NCI:C85053 OMIM:607014 OMIM:607015 OMIM:607016 SNOMEDCT_US_2015_03_01:190938004 SNOMEDCT_US_2015_03_01:267453008 SNOMEDCT_US_2015_03_01:75610003 UMLS_CUI:C0023786 disease_ontology iduronidase deficiency disease Lipochondrodystrophy MTHICD9_2006:277.5 Mucopolysaccharidosis, MPS-I (disorder) SNOMEDCT_2005_07_31:75610003 CSP2005:1849-6334 iduronidase deficiency disease Mucopolysaccharidosis, type 1 SNOMEDCT_2005_07_31:190938004 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I Sly syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. DOID:12803 ICD10CM:E76.29 MPS VII - Sly syndrome MSH:D016538 NCI:C84903 OMIM mapping confirmed by DO. [SN]. OMIM:253220 SNOMEDCT_US_2015_03_01:124470009 SNOMEDCT_US_2015_03_01:43916004 UMLS_CUI:C0085132 beta-glucuronidase deficiency deficiency of beta-glucuronidase disease_ontology mucopolysaccharidosis VII A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII url:http://omim.org/entry/253220 SNOMEDCT_2005_07_31:124470009 deficiency of beta-glucuronidase mucopolysaccharidosis IV A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. DOID:12804 DOID:14767 GALACTOSAMINE-6-SULFATASE DEFICIENCY ICD10CM:E76.210 ICD10CM:E76.219 MORQUIO A DISEASE MPS IV - Morquio syndrome A MPS IV - Morquio syndrome B MSH:D009085 Morquio syndrome A Mucopolysaccharidosis type IVB Mucopolysaccharidosis, MPS-IV Mucopolysaccharidosis, MPS-IV-A (disorder) NCI:C61263 NCI:C84901 OMIM mapping confirmed by DO. [SN]. OMIM:253000 OMIM:253010 Osteochondrodystrophy SNOMEDCT_US_2015_03_01:124449003 SNOMEDCT_US_2015_03_01:130197005 SNOMEDCT_US_2015_03_01:190936000 SNOMEDCT_US_2015_03_01:254074007 SNOMEDCT_US_2015_03_01:378007 SNOMEDCT_US_2015_03_01:7259005 SNOMEDCT_US_2015_03_01:78856008 UMLS_CUI:C0026707 UMLS_CUI:C0086651 chondroosteodystrophy deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase disease_ontology mucopolysaccharidosis type IVA A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Morquio_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002186/ CSP2005:1849-6163 chondroosteodystrophy Osteochondrodystrophy SNOMEDCT_2005_07_31:190936000 SNOMEDCT_2005_07_31:124449003 SNOMEDCT_2005_07_31:130197005 deficiency of chondroitinsulphatase SNOMEDCT_2005_07_31:78856008 deficiency of N-acetylgalactosamine-6-sulphatase Mucopolysaccharidosis, MPS-IV-A (disorder) SNOMEDCT_2005_07_31:7259005 Mucopolysaccharidosis, MPS-IV SNOMEDCT_2005_07_31:378007 chronic lacrimal gland enlargement DOID:12809 ICD10CM:H04.03 ICD9CM:375.03 SNOMEDCT_US_2015_03_01:193972008 SNOMEDCT_US_2015_03_01:393582003 SNOMEDCT_US_2015_03_01:4839005 UMLS_CUI:C1300133 chronic enlargement of lacrimal gland chronic enlargement of lacrimal gland (disorder) chronic lacrimal gland enlargement [Ambiguous] disease_ontology SNOMEDCT_2005_07_31:4839005 chronic enlargement of lacrimal gland (disorder) SNOMEDCT_2005_07_31:193972008 chronic lacrimal gland enlargement [Ambiguous] ICD9CM_2006:375.03 chronic enlargement of lacrimal gland Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. DOID:12819 disease_ontology intestinal infectious disease due to clostridium difficile true A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. url:http://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf enterocele DOID:1283 ICD10CM:K46 ICD10CM:N81.5 ICD9CM:618.6 MSH:D006547 SNOMEDCT_US_2015_03_01:198272003 SNOMEDCT_US_2015_03_01:198275001 SNOMEDCT_US_2015_03_01:270884000 SNOMEDCT_US_2015_03_01:398061002 SNOMEDCT_US_2015_03_01:47671001 UMLS_CUI:C0205792 disease_ontology pelvic enterocele (& vaginal) vaginal enterocele vaginal enterocele (disorder) vaginal enterocele NOS (disorder) vaginal enterocele, congenital or acquired SNOMEDCT_2005_07_31:270884000 vaginal enterocele SNOMEDCT_2005_07_31:198272003 pelvic enterocele (& vaginal) SNOMEDCT_2005_07_31:47671001 vaginal enterocele (disorder) SNOMEDCT_2005_07_31:398061002 vaginal enterocele (disorder) ICD9CM_2006:618.6 vaginal enterocele, congenital or acquired SNOMEDCT_2005_07_31:198275001 vaginal enterocele NOS (disorder) quadriplegia DOID:12835 ICD10CM:G82.5 ICD10CM:G82.50 ICD9CM:344.00 MSH:D011782 NCI:C50721 Quadriplegia (disorder) Quadriplegia, unspecified SNOMEDCT_US_2015_03_01:11538006 SNOMEDCT_US_2015_03_01:155030003 UMLS_CUI:C0034372 disease_ontology tetraplegia Quadriplegia (disorder) SNOMEDCT_2005_07_31:11538006 ICD9CM_2006:344.00 Quadriplegia, unspecified CSP2005:2057-3626 tetraplegia senile entropion DOID:12836 ICD9CM:374.01 Involutional entropion SNOMEDCT_US_2015_03_01:55408009 UMLS_CUI:C0155188 disease_ontology Involutional entropion SNOMEDCT_2005_07_31:55408009 thyroid crisis DOID:12837 MSH:D013958 NCI:C112836 SNOMEDCT_US_2015_03_01:190262002 SNOMEDCT_US_2015_03_01:29028009 Thyroid crisis Thyrotoxic crisis (disorder) UMLS_CUI:C0040127 disease_ontology SNOMEDCT_2005_07_31:29028009 Thyrotoxic crisis (disorder) SNOMEDCT_2005_07_31:190262002 Thyroid crisis secondary thyroid hyperplasia DOID:12838 disease_ontology true thyrotoxicosis from ectopic thyroid nodule DOID:12839 DOID:12943 DOID:12944 Thyrotoxicosis from ectopic thyroid nodule NOS (disorder) Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm disease_ontology hyperthyroidism due to ectopic thyroid nodule (disorder) thyrotoxicosis from ectopic thyroid nodule with crisis thyrotoxicosis from ectopic thyroid nodule with no crisis true ICD9CM_2006:242.41 Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm SNOMEDCT_2005_07_31:190255006 Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder) SNOMEDCT_2005_07_31:190256007 Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder) SNOMEDCT_2005_07_31:190257003 Thyrotoxicosis from ectopic thyroid nodule NOS (disorder) SNOMEDCT_2005_07_31:87232008 hyperthyroidism due to ectopic thyroid nodule (disorder) ICD9CM_2006:242.40 Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm prolapse of female genital organ DOID:1284 ICD9CM:618.8 ICD9CM:618.89 UMLS_CUI:C0029801 disease_ontology Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. Ancylostomiasis due to Ancylostoma ceylonicum (disorder) Ancylostomiasis due to ancylostoma ceylanicum DOID:12840 disease_ontology true Ancylostomiasis due to Ancylostoma ceylonicum (disorder) SNOMEDCT_2005_07_31:38725001 Ancylostomiasis due to ancylostoma ceylanicum ICD9CM_2006:126.3 An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. url:http://emedicine.medscape.com/article/996361-overview ancylostomiasis A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. Ancylostomiasis (disorder) Ancylostomosis DOID:12841 ICD10CM:B76.0 MSH:D000724 NCI:C35805 SNOMEDCT_US_2015_03_01:63479002 SNOMEDCT_US_2015_03_01:85807000 UMLS_CUI:C0002831 disease_ontology Ancylostomosis SNOMEDCT_2005_07_31:85807000 Ancylostomiasis (disorder) SNOMEDCT_2005_07_31:63479002 A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. url:http://en.wikipedia.org/wiki/Ancylostomiasis Guillain-Barre syndrome An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. DOID:12842 Guillain-Barre syndrome (disorder) ICD10CM:G61.0 ICD9CM:357.0 Infectious neuronitis (disorder) MSH:D020275 NCI:C26790 OMIM mapping confirmed by DO. [SN]. OMIM:139393 Post-infectious polyneuritis (disorder) Postinfectious polyneuritis SNOMEDCT_US_2015_03_01:128085000 SNOMEDCT_US_2015_03_01:129131007 SNOMEDCT_US_2015_03_01:155082001 SNOMEDCT_US_2015_03_01:193173004 SNOMEDCT_US_2015_03_01:193174005 SNOMEDCT_US_2015_03_01:193176007 SNOMEDCT_US_2015_03_01:267707000 SNOMEDCT_US_2015_03_01:40956001 UMLS_CUI:C0018378 acute Infective Polyneuritis acute inf. polyneuritis acute infective polyneuritis acute infective polyneuritis (disorder) acute infective polyneuritis NOS (disorder) acute postinfectious polyneuropathy disease_ontology ICD9CM_2006:357.0 acute infective polyneuritis SNOMEDCT_2005_07_31:267707000 acute inf. polyneuritis SNOMEDCT_2005_07_31:129131007 acute infective polyneuritis (disorder) NCI2004_11_17:C26790 acute Infective Polyneuritis Infectious neuronitis (disorder) SNOMEDCT_2005_07_31:128085000 An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. url:http://www.ninds.nih.gov/disorders/gbs/gbs.htm SNOMEDCT_2005_07_31:155082001 acute inf. polyneuritis MTHICD9_2006:357.0 Postinfectious polyneuritis CSP2005:2042-6653 acute postinfectious polyneuropathy Guillain-Barre syndrome (disorder) SNOMEDCT_2005_07_31:40956001 SNOMEDCT_2005_07_31:193173004 acute infective polyneuritis Post-infectious polyneuritis (disorder) SNOMEDCT_2005_07_31:193174005 SNOMEDCT_2005_07_31:193176007 acute infective polyneuritis NOS (disorder) polyneuritis DOID:12843 Polyneuritis (disorder) disease_ontology multiple peripheral neuritis polyneuritis true NCI2004_11_17:C26864 polyneuritis Polyneuritis (disorder) SNOMEDCT_2005_07_31:76886005 CSP2005:2042-6617 multiple peripheral neuritis autistic disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. DOID:12849 EFO:0003758 ICD10CM:F84.0 ICD9CM:299.0 Kanner's syndrome MSH:D001321 NCI:C97161 OMIM:209850 OMIM:300425 OMIM:300495 OMIM:300496 OMIM:300830 OMIM:300847 OMIM:300872 OMIM:606059 OMIM:607373 OMIM:608049 OMIM:608636 OMIM:609378 OMIM:610676 OMIM:610836 OMIM:610908 OMIM:611015 OMIM:611016 OMIM:611913 OMIM:612100 OMIM:613410 OMIM:613436 OMIM:615032 OMIM:615091 ORDO:106 SNOMEDCT_US_2015_03_01:154878007 SNOMEDCT_US_2015_03_01:191688000 SNOMEDCT_US_2015_03_01:191691000 SNOMEDCT_US_2015_03_01:192581001 SNOMEDCT_US_2015_03_01:271450003 SNOMEDCT_US_2015_03_01:34883005 SNOMEDCT_US_2015_03_01:38763009 SNOMEDCT_US_2015_03_01:408856003 SNOMEDCT_US_2015_03_01:408857007 SNOMEDCT_US_2015_03_01:43614003 UMLS_CUI:C0004352 Xref MGI. OMIM mapping confirmed by DO. [SN]. autism autistic disorder of childhood onset childhood autism disease_ontology infantile autism An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. url:http://en.wikipedia.org/wiki/Autism url:www.neurodevnet.ca Kanner's syndrome MTHICD9_2006:299.0 SNOMEDCT_2005_07_31:192581001 childhood autism rectal disease DOID:1285 MSH:D012002 SNOMEDCT_US_2015_03_01:5964004 UMLS_CUI:C0034882 disease_ontology adhesions of drum head to incus DOID:12852 disease_ontology true adhesions of drum head to promontorium DOID:12853 disease_ontology true adhesions of drum head to stapes DOID:12854 disease_ontology true achilles bursitis Achilles bursitis (disorder) Achilles bursitis (disorder) [Ambiguous] Achilles bursitis or tendinitis Capped hock DOID:12857 Haglund's deformity Haglund's disease ICD10CM:M76.6 ICD9CM:726.71 SNOMEDCT_US_2015_03_01:202879008 SNOMEDCT_US_2015_03_01:203394008 SNOMEDCT_US_2015_03_01:221695002 SNOMEDCT_US_2015_03_01:74859007 SNOMEDCT_US_2015_03_01:87494005 UMLS_CUI:C0149846 disease_ontology Achilles bursitis (disorder) SNOMEDCT_2005_07_31:221695002 Haglund's deformity SNOMEDCT_2005_07_31:202879008 Capped hock SNOMEDCT_2005_07_31:74859007 Achilles bursitis or tendinitis ICD9CM_2006:726.71 Achilles bursitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:87494005 Haglund's disease SNOMEDCT_2005_07_31:203394008 Huntington's disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. DOID:12858 HD Huntington disease Huntington's chorea ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MSH:D006816 NCI:C82342 OMIM:143100 SNOMEDCT_US_2015_03_01:155006000 SNOMEDCT_US_2015_03_01:58756001 UMLS_CUI:C0020179 disease_ontology CSP2005:2057-3283 HD Huntington's chorea ICD9CM_2006:333.4 A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. url:http://en.wikipedia.org/wiki/Huntington_disease url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple choreatic disease A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. DOID:12859 ICD10CM:G25.5 OMIM:118700 OMIM:215450 ORDO:1429 Xref MGI. chorea disease_ontology hereditary chorea A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. url:http://en.wikipedia.org/wiki/Chorea url:http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders non-neoplastic nevus of skin DOID:12860 Non-neoplastic nevus Non-neoplastic nevus (disorder) Non-neoplastic nevus NOS (disorder) Non-neoplastic nevus of skin (disorder) Non-neoplastic nevus of skin (disorder) [Ambiguous] disease_ontology nevus, non-neoplastic true ICD9CM_2006:448.1 nevus, non-neoplastic NCI2004_11_17:C3937 Non-neoplastic nevus Non-neoplastic nevus NOS (disorder) SNOMEDCT_2005_07_31:195384002 Non-neoplastic nevus (disorder) SNOMEDCT_2005_07_31:195381005 Non-neoplastic nevus of skin (disorder) [Ambiguous] SNOMEDCT_2005_07_31:11790000 Non-neoplastic nevus of skin (disorder) SNOMEDCT_2005_07_31:268462008 senile nevus DOID:12863 Senile naevus Senile nevus Senile nevus (disorder) disease_ontology true SNOMEDCT_2005_07_31:195383008 Senile nevus (disorder) NCI2004_11_17:C4393 Senile nevus SNOMEDCT_2005_07_31:155447005 Senile naevus acrosyringeal nevus Acrosyringeal nevus Acrosyringeal nevus (disorder) DOID:12864 disease_ontology true Acrosyringeal nevus NCI2004_11_17:C4739 Acrosyringeal nevus (disorder) SNOMEDCT_2005_07_31:239117002 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. DOID:1287 DOID:73 ICD9CM:429.2 MSH:D002318 NCI:C2931 SNOMEDCT_US_2015_03_01:155263000 SNOMEDCT_US_2015_03_01:194707003 SNOMEDCT_US_2015_03_01:195139006 SNOMEDCT_US_2015_03_01:195594006 SNOMEDCT_US_2015_03_01:266275004 SNOMEDCT_US_2015_03_01:266336005 SNOMEDCT_US_2015_03_01:49601007 UMLS_CUI:C0007222 disease of subdivision of hemolymphoid system disease_ontology A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. url:http://en.wikipedia.org/wiki/Circulatory_system Pars plana exudative cyst DOID:12879 Exudative cyst of pars plana Exudative cyst of pars plana (disorder) disease_ontology true Exudative cyst of pars plana (disorder) SNOMEDCT_2005_07_31:63317005 Exudative cyst of pars plana ICD9CM_2006:364.64 idiopathic urticaria DOID:12881 Idiopathic urticaria (disorder) disease_ontology true Idiopathic urticaria (disorder) SNOMEDCT_2005_07_31:42265009 hypochondriasis A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. DOID:12883 Hypochondria Hypochondriacal disorder ICD10CM:F45.2 ICD10CM:F45.21 ICD9CM:300.7 MSH:D006998 NCI:C9493 SNOMEDCT_US_2015_03_01:154891008 SNOMEDCT_US_2015_03_01:18193002 SNOMEDCT_US_2015_03_01:192433006 UMLS_CUI:C0020604 disease_ontology hypochondriacal neurosis Hypochondria NCI2004_11_17:C9493 A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. url:http://en.wikipedia.org/wiki/Hypochondriasis Hypochondriacal disorder SNOMEDCT_2005_07_31:192433006 CSP2005:2483-6952 hypochondriacal neurosis Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. DOID:12888 Ornithosis with pneumonia Ornithosis with pneumonia (disorder) disease_ontology louisiana pneumonia true Ornithosis with pneumonia SNOMEDCT_2005_07_31:186654009 ICD9CM_2006:073.0 Ornithosis with pneumonia Ornithosis with pneumonia SNOMEDCT_2005_07_31:195901002 An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. url:http://en.wikipedia.org/wiki/Ornithosis url:http://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03 Ornithosis with pneumonia (disorder) SNOMEDCT_2005_07_31:81164001 Miller Fisher syndrome A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. DOID:12889 Fisher's syndrome (disorder) ICD10CM:G61.0 MSH:D019846 Miller-Fisher variant of Guillain-Barre syndrome SNOMEDCT_US_2015_03_01:1767005 SNOMEDCT_US_2015_03_01:193175006 SNOMEDCT_US_2015_03_01:230548007 UMLS_CUI:C0393799 disease_ontology Miller-Fisher variant of Guillain-Barre syndrome SNOMEDCT_2005_07_31:193175006 A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification Miller-Fisher variant of Guillain-Barre syndrome SNOMEDCT_2005_07_31:230548007 Fisher's syndrome (disorder) SNOMEDCT_2005_07_31:1767005 neurodegenerative disease A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. DOID:1289 DOID:4874 ICD10CM:G31.9 MSH:D019636 NCI:C27090 Neurodegenerative disease SNOMEDCT_US_2015_03_01:362975008 UMLS_CUI:C0524851 UMLS_CUI:C1285162 degenerative disease disease_ontology A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. url:http://en.wikipedia.org/wiki/Degenerative_disease url:http://en.wikipedia.org/wiki/Neurodegeneration NCI2004_11_17:C4802 Neurodegenerative disease Sjogren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. DOID:12894 DOID:416 ICD10CM:M35.0 ICD10CM:M35.00 ICD9CM:710.2 MSH:D012859 NCI:C26883 NCI:C70647 OMIM mapping confirmed by DO. [LS]. OMIM:270150 SNOMEDCT_US_2015_03_01:156455009 SNOMEDCT_US_2015_03_01:201444003 SNOMEDCT_US_2015_03_01:267875002 SNOMEDCT_US_2015_03_01:268050000 SNOMEDCT_US_2015_03_01:83901003 Sicca syndrome Sjogren syndrome UMLS_CUI:C0086981 UMLS_CUI:C1527336 disease_ontology xerodermosteosis ICD9CM_2006:710.2 SNOMEDCT_2005_07_31:156455009 SNOMEDCT_2005_07_31:268050000 SNOMEDCT_2005_07_31:83901003 Sicca syndrome CSP2005:0729-8405 xerodermosteosis A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. ls:IEDB url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome keratoconjunctivitis sicca DOID:12895 KCS Keraconjunctivitis sicca Keratoconjunctivitis sicca Keratoconjunctivitis sicca (disorder) MSH:D007638 SNOMEDCT_US_2015_03_01:156455009 SNOMEDCT_US_2015_03_01:201444003 SNOMEDCT_US_2015_03_01:268050000 SNOMEDCT_US_2015_03_01:302896008 SNOMEDCT_US_2015_03_01:78946008 UMLS_CUI:C0022575 disease_ontology Keratoconjunctivitis sicca MTHICD9_2006:710.2 Keratoconjunctivitis sicca SNOMEDCT_2005_07_31:201444003 Keratoconjunctivitis sicca (disorder) SNOMEDCT_2005_07_31:302896008 Keraconjunctivitis sicca SNOMEDCT_2005_07_31:156455009 Keraconjunctivitis sicca SNOMEDCT_2005_07_31:268050000 Keratoconjunctivitis sicca SNOMEDCT_2005_07_31:78946008 CSP2005:1114-9026 KCS submandibular gland disease DOID:12897 MSH:D013364 UMLS_CUI:C0038557 disease_ontology benign lymphoepithelial lesion of salivary gland DOID:12899 Godwin tumor ICD10CM:K11.8 NCI:C3949 SNOMEDCT_US_2015_03_01:45517002 UMLS_CUI:C0266995 benign lymphoepithelial lesion of salivary gland (disorder) disease_ontology Godwin tumor NCI2004_11_17:C3949 SNOMEDCT_2005_07_31:45517002 benign lymphoepithelial lesion of salivary gland (disorder) Mikulicz disease DOID:12900 ICD10CM:K11.8 MSH:D008882 Mikulicz's disease NCI:C34819 SNOMEDCT_US_2015_03_01:196478007 SNOMEDCT_US_2015_03_01:7826003 UMLS_CUI:C0026103 disease_ontology Mikulicz's disease SNOMEDCT_2005_07_31:196478007 necrotizing sialometaplasia DOID:12901 ICD10CM:K11.8 MSH:D012797 Necrotizing sialometaplasia (disorder) SNOMEDCT_US_2015_03_01:109769000 UMLS_CUI:C0037033 disease_ontology Necrotizing sialometaplasia (disorder) SNOMEDCT_2005_07_31:109769000 mucocele of salivary gland DOID:12904 ICD10CM:K11.6 ICD9CM:527.6 Mucocele of salivary gland (disorder) Mucocele of salivary gland unspecified (disorder) Mucous retention cyst of salivary gland NCI:C27649 Ranula Ranula (disorder) SNOMEDCT_US_2015_03_01:196508008 SNOMEDCT_US_2015_03_01:196509000 SNOMEDCT_US_2015_03_01:196512002 SNOMEDCT_US_2015_03_01:69825009 Salivary Cyst Salivary gland mucocele NOS (disorder) UMLS_CUI:C0026686 disease_ontology SNOMEDCT_2005_07_31:196512002 Salivary gland mucocele NOS (disorder) Mucocele of salivary gland unspecified (disorder) SNOMEDCT_2005_07_31:196509000 Ranula SNOMEDCT_2005_07_31:155657002 MTHICD9_2006:527.6 Mucous retention cyst of salivary gland Mucocele of salivary gland (disorder) SNOMEDCT_2005_07_31:69825009 Ranula (disorder) SNOMEDCT_2005_07_31:14919007 NCI2004_11_17:C27649 Salivary Cyst sialolithiasis DOID:12905 ICD10CM:K11.5 ICD9CM:527.5 MSH:D015494 NCI:C34994 SNOMEDCT_US_2015_03_01:109767003 SNOMEDCT_US_2015_03_01:155656006 SNOMEDCT_US_2015_03_01:196507003 SNOMEDCT_US_2015_03_01:28826002 Salivary gland Stone Sialolith Sialolithiasis (disorder) Sialolithiasis NOS (disorder) Stone of salivary gland or duct UMLS_CUI:C0036091 disease_ontology SNOMEDCT_2005_07_31:28826002 Sialolithiasis (disorder) SNOMEDCT_2005_07_31:109767003 Sialolith NCI2004_11_17:C34994 Salivary gland Stone MTHICD9_2006:527.5 Stone of salivary gland or duct SNOMEDCT_2005_07_31:196507003 Sialolithiasis NOS (disorder) sickle-cell/Hb-C disease with crisis DOID:12910 Sickle cell-hemoglobin C disease with crisis (disorder) disease_ontology true SNOMEDCT_2005_07_31:417517009 Sickle cell-hemoglobin C disease with crisis (disorder) thromboangiitis obliterans Buerger's disease DOID:12918 ICD10CM:I73.1 ICD9CM:443.1 MSH:D013919 NCI:C35070 OMIM mapping confirmed by DO. [LS]. OMIM:211480 Presenile gangrene Presenile gangrene (disorder) SNOMEDCT_US_2015_03_01:155432001 SNOMEDCT_US_2015_03_01:195298008 SNOMEDCT_US_2015_03_01:195299000 SNOMEDCT_US_2015_03_01:195300008 SNOMEDCT_US_2015_03_01:52403007 Thromboangiitis obliterans Thromboangiitis obliterans (disorder) Thromboangiitis obliterans NOS (disorder) Thromboangiitis obliterans [Buerger's disease] UMLS_CUI:C0040021 disease_ontology MTHICD9_2006:443.1 Presenile gangrene SNOMEDCT_2005_07_31:195298008 Thromboangiitis obliterans SNOMEDCT_2005_07_31:52403007 Thromboangiitis obliterans (disorder) ICD9CM_2006:443.1 Thromboangiitis obliterans [Buerger's disease] Buerger's disease NCI2004_11_17:C35070 Presenile gangrene (disorder) SNOMEDCT_2005_07_31:195299000 SNOMEDCT_2005_07_31:195300008 Thromboangiitis obliterans NOS (disorder) SNOMEDCT_2005_07_31:155432001 Thromboangiitis obliterans Buerger's disease CSP2005:0571-6915 Plasmodium ovale malaria A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. DOID:12919 ICD10CM:B53.0 ICD9CM:084.3 Malariaby Plasmodium ovale Ovale malaria (disorder) SNOMEDCT_US_2015_03_01:19341001 UMLS_CUI:C0152072 disease_ontology Ovale malaria (disorder) SNOMEDCT_2005_07_31:19341001 A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria MTHICD9_2006:084.3 Malariaby Plasmodium ovale childhood schizophrenia DOID:12921 Schizophrenic syndrome of childhood NOS childhood Schizophrenia childhood schizophrenia childhood schizophrenia NOS childhood schizophrenia NOS (disorder) disease_ontology true MTHICD9_2006:299.9 Schizophrenic syndrome of childhood NOS NCI2004_11_17:C35004 childhood Schizophrenia CSP2005:0634-6827 childhood schizophrenia CSP2005:2485-0932 childhood schizophrenia SNOMEDCT_2005_07_31:231484006 childhood schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:191699003 childhood schizophrenia NOS acute undifferentiated schizophrenia DOID:12922 acute schizophrenic episode acute schizophrenic episode (disorder) acute schizophrenic episode, unspecified state disease_ontology true ICD9CM_2006:295.40 acute schizophrenic episode, unspecified state SNOMEDCT_2005_07_31:191558000 acute schizophrenic episode SNOMEDCT_2005_07_31:268617001 acute schizophrenic episode (disorder) chronic undifferentiated schizophrenia DOID:12923 Unspecified schizophrenia, chronic state chronic undifferentiated schizophrenia (disorder) disease_ontology true SNOMEDCT_2005_07_31:29599000 chronic undifferentiated schizophrenia (disorder) ICD9CM_2006:295.92 Unspecified schizophrenia, chronic state hypodermyiasis A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. DOID:12926 MSH:D007000 UMLS_CUI:C0020607 disease_ontology A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. url:http://en.wikipedia.org/wiki/Dermatobia_hominis url:http://en.wikipedia.org/wiki/Hypodermyiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm screw worm infectious disease A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. DOID:12927 MSH:D012610 UMLS_CUI:C0036465 disease_ontology A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. url:http://en.wikipedia.org/wiki/Chrysomya_bezziana url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm nutritional cardiomyopathy DOID:12928 Nutritional and metabolic cardiomyopathies (disorder) Nutritional and metabolic cardiomyopathy NOS Nutritional and metabolic cardiomyopathy NOS (disorder) disease_ontology true Nutritional and metabolic cardiomyopathy NOS SNOMEDCT_2005_07_31:195028005 Nutritional and metabolic cardiomyopathies (disorder) SNOMEDCT_2005_07_31:195023001 Nutritional and metabolic cardiomyopathy NOS (disorder) SNOMEDCT_2005_07_31:266243002 endocardial fibroelastosis An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. DOID:12929 Elastomyofibrosis ICD10CM:I42.4 ICD9CM:425.3 MSH:D004695 NCI:C98922 OMIM mapping confirmed by DO. [SN]. OMIM:226000 OMIM:305300 SNOMEDCT_US_2015_03_01:65457005 UMLS_CUI:C0014117 disease_ontology An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. url:http://en.wikipedia.org/wiki/Endocardial_fibroelastosis url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract Elastomyofibrosis MTHICD9_2006:425.3 labia minora carcinoma DOID:1293 Labia Minora cancer NCI:C9364 UMLS_CUI:C1334357 carcinoma of labia minora disease_ontology Labia Minora cancer NCI2004_11_17:C9364 dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart. Congestive cardiomyopathy DOID:12930 EFO:0000407 Familial dilated cardiomyopathy ICD10CM:I42.0 Idiopathic dilation cardiomyopathy KEGG:05414 MSH:D002311 NCI:C84673 OMIM:115200 OMIM:300069 OMIM:302045 OMIM:600884 OMIM:601154 OMIM:601493 OMIM:601494 OMIM:604145 OMIM:604288 OMIM:604765 OMIM:605362 OMIM:605582 OMIM:606685 OMIM:607482 OMIM:607487 OMIM:608569 OMIM:609909 OMIM:609915 OMIM:611407 OMIM:611615 OMIM:611878 OMIM:611879 OMIM:611880 OMIM:612158 OMIM:612877 OMIM:613122 OMIM:613172 OMIM:613252 OMIM:613286 OMIM:613424 OMIM:613426 OMIM:613642 OMIM:613694 OMIM:613697 OMIM:613740 OMIM:613881 OMIM:614672 OMIM:615184 OMIM:615235 OMIM:615916 ORDO:217604 SNOMEDCT_US_2015_03_01:195018001 SNOMEDCT_US_2015_03_01:195021004 SNOMEDCT_US_2015_03_01:389995008 SNOMEDCT_US_2015_03_01:399020009 SNOMEDCT_US_2015_03_01:74368002 UMLS_CUI:C0007193 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology primary dilated cardiomyopathy Idiopathic dilation cardiomyopathy MSH:C536277 Congestive cardiomyopathy SNOMEDCT_2005_07_31:195018001 Familial dilated cardiomyopathy MSH:C536231 An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart. url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy endomyocardial fibrosis (Becker's disease) or (obscure African cardiomyopathy) African endomyocardial fibrosis Becker's disease DOID:12932 Endomyocardial sclerosis ICD9CM:425.0 MSH:D004719 NCI:C34585 Obscure African cardiomyopathy (disorder) SNOMEDCT_US_2015_03_01:111507009 SNOMEDCT_US_2015_03_01:123264005 SNOMEDCT_US_2015_03_01:155351008 SNOMEDCT_US_2015_03_01:266301006 SNOMEDCT_US_2015_03_01:30293000 SNOMEDCT_US_2015_03_01:398716006 UMLS_CUI:C0553980 disease_ontology African endomyocardial fibrosis SNOMEDCT_2005_07_31:398754006 Endomyocardial sclerosis SNOMEDCT_2005_07_31:111507009 Obscure African cardiomyopathy (disorder) SNOMEDCT_2005_07_31:266242007 (Becker's disease) or (obscure African cardiomyopathy) SNOMEDCT_2005_07_31:195016002 Becker's disease SNOMEDCT_2005_07_31:387732009 Kearns-Sayre syndrome DOID:12934 ICD10CM:H49.81 Kearns-Sayre syndrome (disorder) MSH:D007625 NCI:C84798 OMIM mapping confirmed by DO. [SN]. OMIM:530000 SNOMEDCT_US_2015_03_01:25792000 SNOMEDCT_US_2015_03_01:51464001 SNOMEDCT_US_2015_03_01:77835008 UMLS_CUI:C0022541 disease_ontology Kearns-Sayre syndrome (disorder) SNOMEDCT_2005_07_31:25792000 alcoholic cardiomyopathy Alcohol-induced heart muscle disease Alcoholic cardiomyopathy DOID:12935 Dilated cardiomyopathy secondary to alcohol (disorder) ICD10CM:I42.6 ICD9CM:425.5 MSH:D002310 NCI:C53653 SNOMEDCT_US_2015_03_01:155352001 SNOMEDCT_US_2015_03_01:83521008 UMLS_CUI:C0007192 disease_ontology Alcohol-induced heart muscle disease SNOMEDCT_2005_07_31:155352001 Alcoholic cardiomyopathy ICD9CM_2006:425.5 Dilated cardiomyopathy secondary to alcohol (disorder) SNOMEDCT_2005_07_31:83521008 secondary cardiomyopathy DOID:12936 disease_ontology secondary cardiomyopathy (disorder) secondary cardiomyopathy NOS secondary cardiomyopathy NOS (disorder) secondary cardiomyopathy, unspecified true SNOMEDCT_2005_07_31:266244008 secondary cardiomyopathy NOS (disorder) SNOMEDCT_2005_07_31:89600009 secondary cardiomyopathy (disorder) SNOMEDCT_2005_07_31:195035002 secondary cardiomyopathy NOS ICD9CM_2006:425.9 secondary cardiomyopathy, unspecified vulva carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:1294 NCI:C4866 UMLS_CUI:C0677055 Vulvar carcinoma carcinoma of vulva disease_ontology NCI2004_11_17:C4866 Vulvar carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.gov/cancertopics/types/vulvar paralytic lagophthalmos DOID:12958 ICD10CM:H02.23 ICD9CM:374.21 Paralytic lagophthalmos (finding) SNOMEDCT_US_2015_03_01:193938000 SNOMEDCT_US_2015_03_01:59890007 UMLS_CUI:C0155197 disease_ontology Paralytic lagophthalmos (finding) SNOMEDCT_2005_07_31:59890007 lagophthalmos DOID:12959 ICD10CM:H02.2 ICD10CM:H02.20 ICD9CM:374.2 ICD9CM:374.20 Lagophthalmos (finding) Lagophthalmos NOS (finding) Lagophthalmos, unspecified SNOMEDCT_US_2015_03_01:193936001 SNOMEDCT_US_2015_03_01:193937005 SNOMEDCT_US_2015_03_01:193941009 SNOMEDCT_US_2015_03_01:60735000 UMLS_CUI:C0152226 Unspecified lagophthalmos (finding) disease_ontology ICD9CM_2006:374.20 Lagophthalmos, unspecified Lagophthalmos NOS (finding) SNOMEDCT_2005_07_31:193941009 Lagophthalmos (finding) SNOMEDCT_2005_07_31:60735000 SNOMEDCT_2005_07_31:193937005 Unspecified lagophthalmos (finding) acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly. Apert syndrome DOID:0080004 DOID:12960 ICD9CM:755.55 MSH:D000168 NCI:C34348 OMIM mapping confirmed by DO. [SN]. OMIM:101200 SNOMEDCT_US_2015_03_01:205257004 SNOMEDCT_US_2015_03_01:268262006 SNOMEDCT_US_2015_03_01:63661009 UMLS_CUI:C1510455 disease_ontology Apert syndrome SNOMEDCT_2005_07_31:205257004 A synostosis that results_in craniosynostosis and syndactyly. url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia url:http://www.netterimages.com/image/acrocephalosyndactylia.htm Poland syndrome Poland sequence DOID:12961 ICD10CM:Q79.8 MSH:D011045 NCI:C85017 OMIM mapping confirmed by DO. [SN]. OMIM:173800 Poland anomaly (disorder) Poland's syndactyly SNOMEDCT_US_2015_03_01:205524002 SNOMEDCT_US_2015_03_01:38371006 UMLS_CUI:C0032357 disease_ontology Poland anomaly (disorder) SNOMEDCT_2005_07_31:38371006 subleukemic leukemia A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. DOID:12965 disease_ontology A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. url:http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia central nervous system leukemia A hematologic cancer located_in the central nervous system. DOID:12969 Leukemia of the CNS NCI:C5440 UMLS_CUI:C1332884 disease_ontology Leukemia of the CNS NCI2004_11_17:C5440 A hematologic cancer located_in the central nervous system. url:http://www.springerlink.com/content/gl61tx644217n938/ hereditary spherocytosis A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. Congenital spherocytic hemolytic anemia DOID:12971 ICD10CM:D58.0 ICD9CM:282.0 MSH:D013103 Minkowski Chauffard syndrome NCI:C97074 OMIM:182900 OMIM:270970 OMIM:612653 OMIM:612690 ORDO:822 SNOMEDCT_US_2015_03_01:154795009 SNOMEDCT_US_2015_03_01:55995005 UMLS_CUI:C0037889 Xref MGI. disease_ontology spherocytic anemia A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis Congenital spherocytic hemolytic anemia MTHICD9_2006:282.0 CSP2005:0427-1870 Minkowski Chauffard syndrome intrapelvic lymph node leukemic reticuloendotheliosis DOID:12972 ICD9CM:202.46 Leukemic reticuloendotheliosis involving intrapelvic lymph nodes Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder) Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder) SNOMEDCT_US_2015_03_01:188650008 SNOMEDCT_US_2015_03_01:93145002 UMLS_CUI:C0153831 disease_ontology Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188650008 ICD9CM_2006:202.46 Leukemic reticuloendotheliosis involving intrapelvic lymph nodes Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93145002 secondary malignant neoplasm of intrapelvic lymph node DOID:12973 disease_ontology metastasis to intrapelvic lymph node secondary and unspecified malignant neoplasm of intrapelvic lymph nodes secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder) secondary malignant neoplasm of intrapelvic lymph nodes (disorder) true SNOMEDCT_2005_07_31:154562000 metastasis to intrapelvic lymph node SNOMEDCT_2005_07_31:188423005 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder) ICD9CM_2006:196.6 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes SNOMEDCT_2005_07_31:94350006 secondary malignant neoplasm of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188429009 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder) Plasmodium vivax malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. DOID:12978 ICD10CM:B51 ICD10CM:B51.9 ICD9CM:084.1 MSH:D016780 Malaria by Plasmodium vivax NCI:C34800 SNOMEDCT_US_2015_03_01:27052006 UMLS_CUI:C0024537 Vivax Malaria Vivax malaria (disorder) Vivax malaria [benign tertian] disease_ontology SNOMEDCT_2005_07_31:27052006 Vivax malaria (disorder) NCI2004_11_17:C34800 Vivax Malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria ICD9CM_2006:084.1 Vivax malaria [benign tertian] MTHICD9_2006:084.1 Malaria by Plasmodium vivax transient disorder of initiating or maintaining sleep DOID:12983 disease_ontology true vagus nerve neoplasm DOID:12984 NCI:C5831 SNOMEDCT_US_2015_03_01:126976007 UMLS_CUI:C1263901 Vagus nerve tumors disease_ontology neoplasm of vagus nerve (disorder) SNOMEDCT_2005_07_31:126976007 neoplasm of vagus nerve (disorder) NCI2004_11_17:C5831 Vagus nerve tumors functional disorder of polymorphonuclear neutrophils DOID:12985 Functional disorder of polymorphonuclear neutrophils (disorder) disease_ontology true Functional disorder of polymorphonuclear neutrophils (disorder) SNOMEDCT_2005_07_31:267543009 leukostasis DOID:12986 Leukostasis (morphologic abnormality) MSH:D018921 NCI:C4062 SNOMEDCT_US_2015_03_01:30419000 UMLS_CUI:C0282548 disease_ontology Leukostasis (morphologic abnormality) SNOMEDCT_2005_07_31:30419000 agranulocytosis Agranulocytosis (disorder) Agranulocytosis (finding) Agranulocytosis NOS (disorder) DOID:12987 Granulocytopenia (disorder) Granulocytopenic disorder Granulopenia ICD10CM:D70 MSH:D000380 NCI:C2863 SNOMEDCT_US_2015_03_01:142919000 SNOMEDCT_US_2015_03_01:154830007 SNOMEDCT_US_2015_03_01:165508008 SNOMEDCT_US_2015_03_01:17182001 SNOMEDCT_US_2015_03_01:191336001 SNOMEDCT_US_2015_03_01:191350006 SNOMEDCT_US_2015_03_01:310589001 SNOMEDCT_US_2015_03_01:417672002 SNOMEDCT_US_2015_03_01:72885007 UMLS_CUI:C0001824 disease_ontology granulocytopenia Agranulocytosis (finding) SNOMEDCT_2005_07_31:165508008 CSP2005:0427-6195 granulocytopenia Granulocytopenic disorder SNOMEDCT_2005_07_31:417672002 Agranulocytosis NOS (disorder) SNOMEDCT_2005_07_31:191350006 NCI2004_11_17:C2863 granulocytopenia Agranulocytosis (disorder) SNOMEDCT_2005_07_31:17182001 Granulopenia SNOMEDCT_2005_07_31:72885007 Granulocytopenia (disorder) SNOMEDCT_2005_07_31:310589001 conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. DOID:12995 EFO:0004216 ICD10CM:F91 ICD10CM:F91.9 ICD9CM:312.9 MSH:D019955 NCI:C89329 SNOMEDCT_US_2015_03_01:154945001 SNOMEDCT_US_2015_03_01:192104004 SNOMEDCT_US_2015_03_01:192106002 SNOMEDCT_US_2015_03_01:192597006 SNOMEDCT_US_2015_03_01:192603009 SNOMEDCT_US_2015_03_01:268782006 SNOMEDCT_US_2015_03_01:268785008 SNOMEDCT_US_2015_03_01:430909002 UMLS_CUI:C0149654 disease_ontology A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. url:http://en.wikipedia.org/wiki/Conduct_disorder url:http://www.nmha.org/go/conduct-disorder acute dacryocystitis DOID:12996 Dacryocystitis - acute ICD10CM:H04.32 ICD9CM:375.32 SNOMEDCT_US_2015_03_01:193986007 SNOMEDCT_US_2015_03_01:25470000 UMLS_CUI:C0155237 acute dacryocystitis (disorder) disease_ontology Dacryocystitis - acute SNOMEDCT_2005_07_31:193986007 SNOMEDCT_2005_07_31:25470000 acute dacryocystitis (disorder) Phlegmonous dacryocystitis DOID:12997 ICD10CM:H04.31 ICD9CM:375.33 Phlegmonous dacryocystitis (disorder) SNOMEDCT_US_2015_03_01:193988008 SNOMEDCT_US_2015_03_01:64324003 UMLS_CUI:C0155238 disease_ontology Phlegmonous dacryocystitis (disorder) SNOMEDCT_2005_07_31:64324003 female genitalia nevus DOID:130 disease_ontology true carotid stenosis Carotid artery stenosis (disorder) DOID:13001 MSH:D016893 NCI:C95804 SNOMEDCT_US_2015_03_01:195181000 SNOMEDCT_US_2015_03_01:64586002 Stenosis, carotid artery UMLS_CUI:C0007282 disease_ontology Carotid artery stenosis (disorder) SNOMEDCT_2005_07_31:64586002 SNOMEDCT_2005_07_31:195181000 Stenosis, carotid artery subclavian steal syndrome DOID:13002 ICD9CM:435.2 MSH:D013349 NCI:C35044 SNOMEDCT_US_2015_03_01:15258001 SNOMEDCT_US_2015_03_01:300921000 Subclavian artery stenosis (disorder) UMLS_CUI:C0038531 disease_ontology subclavian steal phenomenon subclavian steal steno-occlusive disease SNOMEDCT_2005_07_31:300921000 Subclavian artery stenosis (disorder) vertebrobasilar insufficiency DOID:13003 ICD10CM:G45.0 ICD9CM:435.3 MSH:D014715 SNOMEDCT_US_2015_03_01:155404005 SNOMEDCT_US_2015_03_01:195196001 SNOMEDCT_US_2015_03_01:195199008 SNOMEDCT_US_2015_03_01:266314007 SNOMEDCT_US_2015_03_01:394517009 SNOMEDCT_US_2015_03_01:64009001 UMLS_CUI:C0042568 Vertebro-basilar insufficiency Vertebrobasilar arterial insufficiency Vertebrobasilar artery syndrome Vertebrobasilar artery syndrome (disorder) Vertebrobasilar insufficiency disease_ontology SNOMEDCT_2005_07_31:195196001 Vertebro-basilar insufficiency ICD9CM_2006:435.3 Vertebrobasilar artery syndrome SNOMEDCT_2005_07_31:195199008 Vertebrobasilar artery syndrome (disorder) SNOMEDCT_2005_07_31:64009001 Vertebrobasilar arterial insufficiency SNOMEDCT_2005_07_31:155404005 Vertebro-basilar insufficiency SNOMEDCT_2005_07_31:394517009 Vertebrobasilar insufficiency SNOMEDCT_2005_07_31:266314007 Vertebro-basilar insufficiency intra-abdominal lymph node mast cell malignancy DOID:13005 ICD9CM:202.63 Mast cell malignancy of intra-abdominal lymph nodes (disorder) SNOMEDCT_US_2015_03_01:188664008 UMLS_CUI:C0153844 disease_ontology malignant mast cell tumors involving intra-abdominal lymph nodes ICD9CM_2006:202.63 malignant mast cell tumors involving intra-abdominal lymph nodes Mast cell malignancy of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188664008 RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. DOID:1301 DOID:1330 DOID:1337 DOID:14084 DOID:1892 DOID:2872 DOID:995 Hemorrhagic Fever Mite-Born Hemorrhagic Fever Mite-borne hemorrhagic fever (disorder) Mosquito-borne haemorrhagic fever Mosquito-borne hemorrhagic fever Mosquito-borne hemorrhagic fever (disorder) Rodent-borne hemorrhagic fever (disorder) Unspecified viral haemorrhagic fever Unspecified viral hemorrhagic fever (disorder) Viral Hemorrhagic Fever Viral hemorrhagic fever (disorder) arbovirus hemorrhagic fever disease_ontology hemorrhagic fever mite-borne hemorrhagic fever mosquito-borne hemorrhagic fever rodent-borne hemorrhagic fever tick-borne hemorrhagic fever true viral hemorrhagic fever SNOMEDCT_2005_07_31:240523007 Viral hemorrhagic fever (disorder) Mosquito-borne haemorrhagic fever SNOMEDCT_2005_07_31:186598001 Mite-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:186601006 A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. url:http://en.wikipedia.org/wiki/RNA_viruses Hemorrhagic Fever NCI2004_11_17:C36169 Mite-Born Hemorrhagic Fever NCI2004_11_17:C35410 Mosquito-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:111847008 Rodent-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:240494005 NCI2004_11_17:C36170 Viral Hemorrhagic Fever CSP2005:3100-2478 hemorrhagic fever ICD9CM_2006:065.4 Mosquito-borne hemorrhagic fever SNOMEDCT_2005_07_31:186736002 Unspecified viral haemorrhagic fever SNOMEDCT_2005_07_31:187415006 Unspecified viral hemorrhagic fever (disorder) shipyard eye DOID:13014 EKC Epidemic Keratoconjunctivitis Epidemic keratoconjunctivitis ICD10CM:B30.0 ICD9CM:077.1 NCI:C34590 SNOMEDCT_US_2015_03_01:60548004 UMLS_CUI:C0014493 disease_ontology Epidemic Keratoconjunctivitis NCI2004_11_17:C34590 EKC SNOMEDCT_2005_07_31:60548004 Epidemic keratoconjunctivitis ICD9CM_2006:077.1 cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. Cryptococcal Gastroenteritis Cryptococcal gastroenteritis (disorder) DOID:13019 disease_ontology true Cryptococcal gastroenteritis (disorder) SNOMEDCT_2005_07_31:35974005 Cryptococcal Gastroenteritis NCI2004_11_17:C35590 A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. url:http://smj.sma.org.sg/4911/4911cr4.pdf url:http://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. Cryptococcal Pneumonia DOID:13020 disease_ontology true Cryptococcal Pneumonia NCI2004_11_17:C35361 A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/17312037 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. DOID:13021 disease_ontology true A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 sickle cell trait DOID:13023 Haemoglobin S trait Hb-S trait Sickle cell trait (disorder) Sickle-cell trait disease_ontology true Hb-S trait MTHICD9_2006:282.5 SNOMEDCT_2005_07_31:16402000 Sickle cell trait (disorder) ICD9CM_2006:282.5 Sickle-cell trait Haemoglobin S trait SNOMEDCT_2005_07_31:154797001 retinopathy of prematurity DOID:13025 ICD10CM:H35.1 ICD10CM:H35.10 ICD10CM:H35.17 ICD9CM:362.20 ICD9CM:362.21 MSH:D012178 NCI:C34982 Retinopathy of prematurity Retinopathy of prematurity (disorder) Retrolental Fibroplasia Retrolental fibroplasia Retrolental fibroplasia (disorder) SNOMEDCT_US_2015_03_01:155110004 SNOMEDCT_US_2015_03_01:415297005 SNOMEDCT_US_2015_03_01:74277007 UMLS_CUI:C0035344 disease_ontology premature retinopathy Retinopathy of prematurity (disorder) SNOMEDCT_2005_07_31:415297005 Retinopathy of prematurity SNOMEDCT_2005_07_31:155110004 CSP2005:1114-9578 premature retinopathy Retrolental fibroplasia (disorder) SNOMEDCT_2005_07_31:74277007 ICD9CM_2006:362.21 Retrolental fibroplasia NCI2004_11_17:C34982 Retrolental Fibroplasia lobomycosis A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. Cutaneous blastomycosis Cutaneous lobomycosis (disorder) DOID:13026 ICD10CM:B48.0 ICD9CM:116.2 MSH:D060368 SNOMEDCT_US_2015_03_01:240749000 SNOMEDCT_US_2015_03_01:47306003 UMLS_CUI:C0152066 disease_ontology infection by Loboa loboi MTHICD9_2006:116.2 infection by Loboa loboi A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. url:http://www.cdc.gov/EID/content/15/8/1301.htm url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html Cutaneous lobomycosis (disorder) SNOMEDCT_2005_07_31:240749000 transient global amnesia An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. DOID:13027 ICD10CM:G45.4 ICD9CM:437.7 MSH:D020236 NCI:C85198 SNOMEDCT_US_2015_03_01:195202003 SNOMEDCT_US_2015_03_01:230736007 SNOMEDCT_US_2015_03_01:366963000 SNOMEDCT_US_2015_03_01:367187006 UMLS_CUI:C0338591 disease_ontology An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. url:http://emedicine.medscape.com/article/1160964-overview url:http://en.wikipedia.org/wiki/Transient_global_amnesia balanoposthitis Balanoposthitis (disorder) Balanoposthitis NOS (disorder) DOID:13031 ICD10CM:N47.6 ICD9CM:607.1 SNOMEDCT_US_2015_03_01:198020004 SNOMEDCT_US_2015_03_01:198024008 SNOMEDCT_US_2015_03_01:46090001 UMLS_CUI:C0004691 disease_ontology Balanoposthitis (disorder) SNOMEDCT_2005_07_31:46090001 Balanoposthitis NOS (disorder) SNOMEDCT_2005_07_31:198024008 Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. DOID:13032 Trichomonal balanoposthitis (disorder) Trichomonal balanoposthitis [Ambiguous] Trichomonas Balanoposthitis disease_ontology trichomonal balanoposthitis true NCI2004_11_17:C35406 Trichomonas Balanoposthitis SNOMEDCT_2005_07_31:249414000 Trichomonal balanoposthitis (disorder) SNOMEDCT_2005_07_31:236747009 Trichomonal balanoposthitis [Ambiguous] A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. url:http://emedicine.medscape.com/article/230617-overview balanitis Balanitis (disorder) Balanitis [Ambiguous] DOID:13033 ICD10CM:N48.1 MSH:D001446 NCI:C26705 SNOMEDCT_US_2015_03_01:155928003 SNOMEDCT_US_2015_03_01:198020004 SNOMEDCT_US_2015_03_01:198021000 SNOMEDCT_US_2015_03_01:266572002 SNOMEDCT_US_2015_03_01:371163003 SNOMEDCT_US_2015_03_01:44882003 UMLS_CUI:C0004690 disease_ontology Balanitis (disorder) SNOMEDCT_2005_07_31:44882003 Balanitis [Ambiguous] SNOMEDCT_2005_07_31:266572002 relapsing fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. DOID:13034 ICD10CM:A68 ICD10CM:A68.9 ICD9CM:087 ICD9CM:087.9 MSH:D012061 SNOMEDCT_US_2015_03_01:186820006 SNOMEDCT_US_2015_03_01:186822003 SNOMEDCT_US_2015_03_01:187374004 SNOMEDCT_US_2015_03_01:420079008 SNOMEDCT_US_2015_03_01:46107006 UMLS_CUI:C0035021 disease_ontology A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. url:http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html louse-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. DOID:13035 ICD10CM:A68.0 ICD9CM:087.0 Louse-borne relapsing fever (disorder) Relapsing fever, louse-borne SNOMEDCT_US_2015_03_01:14683004 UMLS_CUI:C0152061 disease_ontology Louse-borne relapsing fever (disorder) SNOMEDCT_2005_07_31:14683004 ICD9CM_2006:087.0 Relapsing fever, louse-borne A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/787000-overview#a0104 tick-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. DOID:13036 ICD10CM:A68.1 ICD9CM:087.1 NCI:C34976 Relapsing fever, tick-borne SNOMEDCT_US_2015_03_01:10301003 SNOMEDCT_US_2015_03_01:186821005 Tick-borne relapsing fever (disorder) Tick-borne relapsing fever NOS (disorder) UMLS_CUI:C0035022 disease_ontology SNOMEDCT_2005_07_31:186821005 Tick-borne relapsing fever NOS (disorder) A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/787000-overview#a0104 url:http://en.wikipedia.org/wiki/Relapsing_fever SNOMEDCT_2005_07_31:10301003 Tick-borne relapsing fever (disorder) ICD9CM_2006:087.1 Relapsing fever, tick-borne mechanical lagophthalmos DOID:13037 ICD10CM:H02.22 ICD9CM:374.22 Mechanical lagophthalmos (disorder) SNOMEDCT_US_2015_03_01:193939008 SNOMEDCT_US_2015_03_01:21783006 UMLS_CUI:C0155198 disease_ontology Mechanical lagophthalmos (disorder) SNOMEDCT_2005_07_31:21783006 cicatricial lagophthalmos Cicatricial lagophthalmos (finding) DOID:13038 ICD10CM:H02.21 ICD9CM:374.23 SNOMEDCT_US_2015_03_01:193940005 SNOMEDCT_US_2015_03_01:9042000 UMLS_CUI:C0155199 disease_ontology Cicatricial lagophthalmos (finding) SNOMEDCT_2005_07_31:9042000 syphilitic optic atrophy DOID:13040 Syphilitic optic atrophy (disorder) disease_ontology true SNOMEDCT_2005_07_31:22386003 Syphilitic optic atrophy (disorder) persistent fetal circulation syndrome DOID:13042 Fetal circulation ICD10CM:P29.3 ICD9CM:747.83 MSH:D010547 NCI:C85006 OMIM mapping confirmed by DO. [SN]. OMIM:265380 Persistent fetal circulation Persistent fetal circulation (disorder) Persistent fetal circulation syndrome (disorder) Persistent pulmonary hypertension of the newborn (disorder) SNOMEDCT_US_2015_03_01:204507004 SNOMEDCT_US_2015_03_01:206597007 SNOMEDCT_US_2015_03_01:233815004 SNOMEDCT_US_2015_03_01:35604006 UMLS_CUI:C0031190 congenital alveolar capillary dysplasia with misalignment of pulmonary veins disease_ontology persistent pulmonary hypertension of the newborn Persistent fetal circulation (disorder) SNOMEDCT_2005_07_31:206597007 Fetal circulation SNOMEDCT_2005_07_31:204507004 Persistent pulmonary hypertension of the newborn (disorder) SNOMEDCT_2005_07_31:233815004 ICD9CM_2006:747.83 Persistent fetal circulation CSP2005:2595-6954 persistent pulmonary hypertension of the newborn Persistent fetal circulation syndrome (disorder) SNOMEDCT_2005_07_31:35604006 CSP2005:0723-5955 persistent pulmonary hypertension of the newborn acute sphenoidal sinusitis A sphenoid sinusitis which lasts for less than 4 weeks. DOID:13046 ICD10CM:J01.3 ICD10CM:J01.30 ICD9CM:461.3 SNOMEDCT_US_2015_03_01:155501004 SNOMEDCT_US_2015_03_01:266378004 SNOMEDCT_US_2015_03_01:77919000 Sphenoidal sinus -acute UMLS_CUI:C0155807 acute sphenoidal sinusitis (disorder) disease_ontology SNOMEDCT_2005_07_31:266378004 Sphenoidal sinus -acute SNOMEDCT_2005_07_31:155501004 Sphenoidal sinus -acute A sphenoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis SNOMEDCT_2005_07_31:77919000 acute sphenoidal sinusitis (disorder) Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. Ancylostomiasis due to Ancylostoma Braziliense Ancylostomiasis due to Ancylostoma braziliense (disorder) Ancylostomiasis due to ancylostoma braziliense DOID:13047 disease_ontology true Ancylostomiasis due to ancylostoma braziliense ICD9CM_2006:126.2 Ancylostomiasis due to Ancylostoma Braziliense NCI2004_11_17:C35175 An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720113/pdf/v090p00998.pdf Ancylostomiasis due to Ancylostoma braziliense (disorder) SNOMEDCT_2005_07_31:22728002 Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. Ancylostomiasis due to Ancylostoma Duodenale Ancylostomiasis due to Ancylostoma duodenale Ancylostomiasis due to Ancylostoma duodenale (disorder) DOID:13049 disease_ontology true Ancylostomiasis due to Ancylostoma Duodenale NCI2004_11_17:C34374 Ancylostomiasis due to Ancylostoma duodenale (disorder) SNOMEDCT_2005_07_31:7386008 An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. url:http://en.wikipedia.org/wiki/Ancylostoma_duodenale Ancylostomiasis due to Ancylostoma duodenale SNOMEDCT_2005_07_31:85807000 AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. AIDS Dementia DOID:1305 HIV associated cognitive and motor complex HIV-associated dementia acquired immune deficiency syndrome dementia complex disease_ontology true AIDS Dementia NCI2004_11_17:C2864 CSP2005:1560-6280 HIV associated cognitive and motor complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. url:http://en.wikipedia.org/wiki/AIDS_dementia_complex SNOMEDCT_2005_07_31:192178000 acquired immune deficiency syndrome dementia complex corpus luteum cyst DOID:13050 ICD9CM:620.1 UMLS_CUI:C0156361 disease_ontology HIV encephalopathy AIDS Encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. DOID:1306 Human immunodefiency virus encephalopathy disease_ontology true AIDS Encephalopathy NCI2004_11_17:C3715 Human immunodefiency virus encephalopathy SNOMEDCT_2005_07_31:31363004 An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. url:http://emedicine.medscape.com/article/1166894-overview traumatic glaucoma DOID:13060 Glaucoma associated with ocular trauma Glaucoma associated with ocular trauma (disorder) ICD9CM:365.65 SNOMEDCT_US_2015_03_01:68241007 UMLS_CUI:C0339594 disease_ontology Glaucoma associated with ocular trauma (disorder) SNOMEDCT_2005_07_31:68241007 Glaucoma associated with ocular trauma ICD9CM_2006:365.65 moderate recurrent major depression DOID:13063 Major depressive disorder, recurrent episode, moderate degree Moderate recurrent major depression (disorder) disease_ontology recurrent depressive disorder, current episode moderate (disorder) true ICD9CM_2006:296.32 Major depressive disorder, recurrent episode, moderate degree Moderate recurrent major depression (disorder) SNOMEDCT_2005_07_31:18818009 SNOMEDCT_2005_07_31:192376009 recurrent depressive disorder, current episode moderate (disorder) renal osteodystrophy DOID:13068 ICD10CM:N25.0 ICD9CM:588.0 MSH:D012080 SNOMEDCT_US_2015_03_01:155858005 SNOMEDCT_US_2015_03_01:16726004 SNOMEDCT_US_2015_03_01:197668007 SNOMEDCT_US_2015_03_01:266617009 UMLS_CUI:C0035086 disease_ontology renal rickets SNOMEDCT_2005_07_31:197667002 renal rickets dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. DOID:1307 ICD9CM:290.8 UMLS_CUI:C0154319 disease_ontology A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm acquired hyperkeratosis DOID:13072 ICD9CM:701.1 Keratoderma - acquired Keratoderma, acquired NCI:C34746 SNOMEDCT_US_2015_03_01:201053002 SNOMEDCT_US_2015_03_01:201064004 SNOMEDCT_US_2015_03_01:20637002 SNOMEDCT_US_2015_03_01:267805003 SNOMEDCT_US_2015_03_01:400166009 UMLS_CUI:C0022581 acquired Keratoderma acquired keratoderma acquired keratoderma (disorder) acquired keratoderma NOS acquired keratoderma NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:267805003 acquired keratoderma NOS (disorder) ICD9CM_2006:701.1 Keratoderma, acquired NCI2004_11_17:C34746 acquired Keratoderma Keratoderma - acquired SNOMEDCT_2005_07_31:201053002 SNOMEDCT_2005_07_31:20637002 acquired keratoderma SNOMEDCT_2005_07_31:400166009 acquired keratoderma (disorder) SNOMEDCT_2005_07_31:201064004 acquired keratoderma NOS tinea unguium A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. DOID:10462 DOID:11399 DOID:11761 DOID:12844 DOID:12845 DOID:12846 DOID:12847 DOID:12848 DOID:13074 DOID:13119 DOID:9412 DOID:9690 DOID:9691 Dermatophytic onychia Dermatophytosis of nail ICD9CM:681.9 Onychomycosis due to dermatophyte Tinea unguium UMLS_CUI:C0007644 cellulitis and abscess cellulitis and abscess of buttock cellulitis and abscess of face cellulitis and abscess of finger cellulitis and abscess of finger and toe cellulitis and abscess of gluteal region cellulitis and abscess of trunk cellulitis and abscess of upper arm and forearm dermatophytic onychomycosis disease_ontology ICD9CM_2006:682.5 cellulitis and abscess of buttock A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. url:http://en.wikipedia.org/wiki/Nail_disease url:http://en.wikipedia.org/wiki/Onychomycosis Onychomycosis due to dermatophyte SNOMEDCT_2005_07_31:402134005 Dermatophytic onychia MTHICD9_2006:110.1 Dermatophytosis of nail ICD9CM_2006:110.1 abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. DOID:13076 disease_ontology true An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14616714 cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. DOID:13077 disease_ontology true An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. url:http://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html url:http://en.wikipedia.org/wiki/Cutaneous_actinomycosis eumycotic mycetoma A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. DOID:13078 ICD10CM:B47 ICD10CM:B47.9 MSH:D008271 Madura foot Maduromycosis, mycotic Mycotic mycetoma (disorder) NCI:C85505 SNOMEDCT_US_2015_03_01:187497002 SNOMEDCT_US_2015_03_01:410039003 UMLS_CUI:C0024449 disease_ontology eumycetoma maduromycosis ICD9CM_2006:039.4 Madura foot MTHICD9_2006:117.4 Maduromycosis, mycotic A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. url:http://emedicine.medscape.com/article/1090738-overview url:http://en.wikipedia.org/wiki/Maduromycosis url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html Mycotic mycetoma (disorder) SNOMEDCT_2005_07_31:29761005 AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. AIDS-like syndrome DOID:1308 acquired immune deficiency syndrome (& [ARC]) disease_ontology true SNOMEDCT_2005_07_31:154368002 acquired immune deficiency syndrome (& [ARC]) A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. url:http://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html url:http://www.medterms.com/script/main/art.asp?articlekey=10924 AIDS-like syndrome MTHICD9_2006:042 Jaccoud's syndrome DOID:13080 ICD10CM:M12.0 ICD10CM:M12.00 ICD9CM:714.4 Jaccoud syndrome SNOMEDCT_US_2015_03_01:123247007 SNOMEDCT_US_2015_03_01:84801008 UMLS_CUI:C0152084 disease_ontology hemangioma of subcutaneous tissue Angioma of the Subcutaneous tissue DOID:13081 NCI:C8540 SNOMEDCT_US_2015_03_01:189195009 SNOMEDCT_US_2015_03_01:254823000 SNOMEDCT_US_2015_03_01:93473009 Subcutaneous haemangioma Subcutaneous hemangioma (disorder) UMLS_CUI:C0685200 disease_ontology hemangioma of subcutaneous tissue (disorder) Angioma of the Subcutaneous tissue NCI2004_11_17:C8540 SNOMEDCT_2005_07_31:189195009 Subcutaneous haemangioma SNOMEDCT_2005_07_31:254823000 Subcutaneous hemangioma (disorder) SNOMEDCT_2005_07_31:93473009 hemangioma of subcutaneous tissue (disorder) Lown-Ganong-Levine syndrome A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. DOID:13087 ICD10CM:I45.6 ICD9CM:426.81 MSH:D008151 ORDO:844 SNOMEDCT_US_2015_03_01:55475008 UMLS_CUI:C0024054 atrial tachyarrhythmia with short PR interval disease_ontology syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias ORDO:844 atrial tachyarrhythmia with short PR interval A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. url:http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome MTHICD9_2006:426.81 syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias periventricular leukomalacia DOID:13088 ICD10CM:P91.2 ICD9CM:779.7 MSH:D007969 NCI:C99013 Periventricular leucomalacia (disorder) Periventricular leukomalacia SNOMEDCT_US_2015_03_01:230769007 UMLS_CUI:C0023529 disease_ontology Periventricular leucomalacia (disorder) SNOMEDCT_2005_07_31:230769007 ICD9CM_2006:779.7 Periventricular leukomalacia intracranial arterial disease DOID:13089 MSH:D020765 UMLS_CUI:C0752138 disease_ontology branch retinal artery occlusion Arterial retinal branch occlusion (disorder) DOID:13094 ICD10CM:H34.23 ICD9CM:362.32 MSH:D015356 NCI:C34436 Retinal Arterial Branch Occlusion Retinal arterial branch occlusion SNOMEDCT_US_2015_03_01:50821009 UMLS_CUI:C0006123 disease_ontology ICD9CM_2006:362.32 Retinal arterial branch occlusion NCI2004_11_17:C34436 Retinal Arterial Branch Occlusion Arterial retinal branch occlusion (disorder) SNOMEDCT_2005_07_31:50821009 vertebral artery insufficiency DOID:13095 MSH:D014715 UMLS_CUI:C0042560 Vertebral artery syndrome Vertebral artery syndrome (disorder) disease_ontology SNOMEDCT_2005_07_31:34781003 Vertebral artery syndrome (disorder) SNOMEDCT_2005_07_31:195198000 Vertebral artery syndrome ICD9CM_2006:435.1 Vertebral artery syndrome NCI2004_11_17:C35123 Vertebral artery syndrome Sneddon syndrome DOID:13096 Idiopathic livedo reticularis with systemic involvement (disorder) MSH:D018860 OMIM:182410 SNOMEDCT_US_2015_03_01:238776001 UMLS_CUI:C0282492 disease_ontology Idiopathic livedo reticularis with systemic involvement (disorder) SNOMEDCT_2005_07_31:238776001 intracranial arteriosclerosis DOID:13097 MSH:D002537 UMLS_CUI:C0007771 disease_ontology central retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. DOID:13098 ICD10CM:H34.1 ICD9CM:362.31 MSH:D015356 NCI:C34456 SNOMEDCT_US_2015_03_01:38742007 UMLS_CUI:C0007688 disease_ontology A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. url:http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion Moyamoya disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. DOID:13099 EFOpat_id:2373 ICD10CM:I67.5 ICD9CM:437.5 MSH:D009072 NCI:C84895 OMIM:252350 OMIM:300845 OMIM:607151 OMIM:608796 OMIM:614042 OMIM:615750 ORDO:2573 ORDO:280679 ORDO:401945 SNOMEDCT_US_2015_03_01:69116000 SNOMEDCT_US_2015_03_01:89142007 UMLS_CUI:C0026654 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology progressive intracranial arterial occlusion A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. url:http://en.wikipedia.org/wiki/Moyamoya_disease url:http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1 intracranial vasospasm DOID:13100 MSH:D020301 UMLS_CUI:C0751895 disease_ontology bladder leiomyoma DOID:13109 NCI:C6178 UMLS_CUI:C1332560 disease_ontology leiomyoma of the urinary bladder NCI2004_11_17:C6178 leiomyoma of the urinary bladder HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. AIDS nephropathy AIDS-Related nephropathy AIDS-associated nephropathy DOID:1311 disease_ontology true AIDS-Related nephropathy NCI2004_11_17:C26918 A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. url:http://emedicine.medscape.com/article/246031-overview bladder squamous papilloma DOID:13110 NCI:C39834 UMLS_CUI:C1511199 disease_ontology mechanical entropion DOID:13112 ICD9CM:374.02 Mechanical entropion (disorder) SNOMEDCT_US_2015_03_01:38683003 UMLS_CUI:C0155189 disease_ontology Mechanical entropion (disorder) SNOMEDCT_2005_07_31:38683003 cicatricial entropion Cicatricial entropion (disorder) DOID:13113 ICD9CM:374.04 SNOMEDCT_US_2015_03_01:67383002 UMLS_CUI:C0155191 disease_ontology Cicatricial entropion (disorder) SNOMEDCT_2005_07_31:67383002 paronychia DOID:11398 DOID:13117 DOID:9689 ICD10CM:L03.0 Infected nailfold MSH:D010304 NCI:C79702 Onychia and paronychia of finger Onychia and paronychia of toe Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. SNOMEDCT_US_2015_03_01:156305000 SNOMEDCT_US_2015_03_01:200643006 SNOMEDCT_US_2015_03_01:267830000 SNOMEDCT_US_2015_03_01:71906005 UMLS_CUI:C0030578 disease_ontology fungal nail infection paronychia inflammation Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. url:http://en.wikipedia.org/wiki/Paronychia Infected nailfold SNOMEDCT_2005_07_31:200643006 focal segmental glomerulosclerosis DOID:1312 DOID:3945 EFO:0004236 FGS (focal glomerular sclerosis) FSGS MSH:D005923 NCI:C37308 OMIM:603278 OMIM:603965 OMIM:607832 OMIM:612551 OMIM:613237 OMIM:614131 OMIM:616002 OMIM:616032 SNOMEDCT_US_2015_03_01:236403004 SNOMEDCT_US_2015_03_01:25821008 UMLS_CUI:C0017668 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology focal glomerular sclerosis focal glomerulosclerosis CSP2005:4003-0020 FGS (focal glomerular sclerosis) FSGS SNOMEDCT_2005_07_31:236403004 protein-deficiency anemia Anemia due to protein deficiency (disorder) DOID:13120 ICD10CM:D53.0 ICD9CM:281.4 Protein-deficiency anemia (disorder) Protein-deficiency anemia NOS (disorder) SNOMEDCT_US_2015_03_01:191156009 SNOMEDCT_US_2015_03_01:191159002 SNOMEDCT_US_2015_03_01:85746008 UMLS_CUI:C0154290 disease_ontology Protein-deficiency anemia NOS (disorder) SNOMEDCT_2005_07_31:191159002 Protein-deficiency anemia (disorder) SNOMEDCT_2005_07_31:191156009 Anemia due to protein deficiency (disorder) SNOMEDCT_2005_07_31:85746008 deficiency anemia DOID:13121 ICD9CM:281.9 SNOMEDCT_US_2015_03_01:191125001 SNOMEDCT_US_2015_03_01:191168000 SNOMEDCT_US_2015_03_01:267513007 UMLS_CUI:C0041782 Unspecified deficiency anemia deficiency anemias (disorder) deficiency anemias NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:267513007 deficiency anemias (disorder) ICD9CM_2006:281.9 Unspecified deficiency anemia SNOMEDCT_2005_07_31:191168000 deficiency anemias NOS (disorder) gonococcal spondylitis DOID:13127 Gonococcal spondylitis (disorder) ICD9CM:098.53 SNOMEDCT_US_2015_03_01:186929006 SNOMEDCT_US_2015_03_01:53664003 UMLS_CUI:C0153219 disease_ontology Gonococcal spondylitis (disorder) SNOMEDCT_2005_07_31:53664003 severe pre-eclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. DOID:13129 DOID:13130 DOID:13131 DOID:13132 ICD9CM:642.50 Severe pre-eclampsia, with delivery UMLS_CUI:C0156669 antepartum severe pre-eclampsia disease_ontology postpartum severe pre-eclampsia severe preeclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. url:http://emedicine.medscape.com/article/1476919-overview HIV wasting syndrome AIDS wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. DOID:1313 Human immunodeficiency virus infection wasting syndrome disease_ontology true AIDS wasting syndrome CSP2005:0944-7730 Human immunodeficiency virus infection wasting syndrome SNOMEDCT_2005_07_31:186727001 An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://en.wikipedia.org/wiki/AIDS_wasting_syndrome url:http://www.aidsinfonet.org/fact_sheets/view/519 HELLP syndrome A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. DOID:13133 HELLP syndrome (disorder) ICD10CM:O14.2 MSH:D017359 NCI:C84750 SNOMEDCT_US_2015_03_01:199010001 SNOMEDCT_US_2015_03_01:95605009 UMLS_CUI:C0162739 disease_ontology syndrome of haemolysis, elevated liver enzymes and low platelet HELLP syndrome (disorder) SNOMEDCT_2005_07_31:95605009 A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. PMID:24400024 PMID:25879992 SNOMEDCT_2005_07_31:199010001 syndrome of haemolysis, elevated liver enzymes and low platelet hordeolum externum A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. DOID:13134 ICD10CM:H00.01 ICD10CM:H00.03 ICD9CM:373.11 SNOMEDCT_US_2015_03_01:1489008 SNOMEDCT_US_2015_03_01:193912000 SNOMEDCT_US_2015_03_01:61523007 UMLS_CUI:C0019919 disease_ontology external stye A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. url:http://en.wikipedia.org/wiki/Stye exophthalmic ophthalmoplegia DOID:13135 Exophthalmic ophthalmoplegia (disorder) ICD9CM:376.22 SNOMEDCT_US_2015_03_01:69763009 UMLS_CUI:C0152135 disease_ontology Exophthalmic ophthalmoplegia (disorder) SNOMEDCT_2005_07_31:69763009 Werdnig-Hoffmann disease DOID:13137 HMN (Hereditary motor Neuropathy) Proximal type I ICD10CM:G12.0 ICD9CM:335.0 MSH:D014897 NCI:C98670 OMIM mapping confirmed by DO. [SN]. OMIM:253300 SNOMEDCT_US_2015_03_01:155016008 SNOMEDCT_US_2015_03_01:267694009 SNOMEDCT_US_2015_03_01:64383006 UMLS_CUI:C0043116 Werdnig-Hoffman disease disease_ontology hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy CSP2005:2057-3620 infantile muscular atrophy SNOMEDCT_2005_07_31:155016008 Werdnig-Hoffman disease MTHICD9_2006:335.0 progressive muscular atrophy of infancy acute proliferative glomerulonephritis DOID:13138 ICD9CM:580.0 SNOMEDCT_US_2015_03_01:197579006 UMLS_CUI:C0341692 acute glomerulonephritis with lesion of proliferative glomerulonephritis acute proliferative glomerulonephritis (disorder) disease_ontology SNOMEDCT_2005_07_31:197579006 acute proliferative glomerulonephritis (disorder) ICD9CM_2006:580.0 acute glomerulonephritis with lesion of proliferative glomerulonephritis crescentic glomerulonephritis Crescentic glomerulonephritis (disorder) DOID:13139 Idiopathic crescentic glomerulonephritis (disorder) [Ambiguous] NCI:C35444 SNOMEDCT_US_2015_03_01:236398000 SNOMEDCT_US_2015_03_01:45406000 UMLS_CUI:C0403416 disease_ontology Crescentic glomerulonephritis (disorder) SNOMEDCT_2005_07_31:236398000 Idiopathic crescentic glomerulonephritis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:45406000 wasting syndrome DOID:1314 Wasting disease Wasting disease (context-dependent category) Wasting disease (disorder) Wasting disease, NOS disease_ontology true SNOMEDCT_2005_07_31:271878009 Wasting disease SNOMEDCT_2005_07_31:288517002 Wasting disease (disorder) MTHICD9_2006:799.4 Wasting disease SNOMEDCT_2005_07_31:28928000 Wasting disease, NOS SNOMEDCT_2005_07_31:207559001 Wasting disease (context-dependent category) suppurative uveitis DOID:13140 MSH:D015829 UMLS_CUI:C0042168 disease_ontology uveitis DOID:13141 ICD10CM:H20.9 MSH:D014605 NCI:C26909 SNOMEDCT_US_2015_03_01:128473001 SNOMEDCT_US_2015_03_01:155116005 SNOMEDCT_US_2015_03_01:193499001 SNOMEDCT_US_2015_03_01:267719008 SNOMEDCT_US_2015_03_01:75614007 UMLS_CUI:C0042164 disease_ontology benign secondary hypertension DOID:13143 ICD9CM:405.1 NCI:C3658 SNOMEDCT_US_2015_03_01:194785008 SNOMEDCT_US_2015_03_01:194787000 SNOMEDCT_US_2015_03_01:44111003 UMLS_CUI:C0155620 disease_ontology benign renovascular hypertension DOID:13145 ICD9CM:405.11 UMLS_CUI:C0155621 disease_ontology esophageal candidiasis A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. Candida Esophagitis Candidal esophagitis Candidiasis of the esophagus (disorder) DOID:13146 ICD10CM:B37.81 ICD9CM:112.84 NCI:C27027 SNOMEDCT_US_2015_03_01:187023002 SNOMEDCT_US_2015_03_01:20639004 UMLS_CUI:C0239295 disease_ontology esophageal moniliasis esophageal thrush A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. url:http://en.wikipedia.org/wiki/Esophageal_candidiasis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Candidiasis of the esophagus (disorder) SNOMEDCT_2005_07_31:20639004 Candida Esophagitis NCI2004_11_17:C27027 Candidal esophagitis ICD9CM_2006:112.84 SNOMEDCT_2005_07_31:187023002 esophageal moniliasis fungal esophagitis DOID:13147 Fungal Esophagitis Fungal esophagitis (disorder) NCI:C27107 SNOMEDCT_US_2015_03_01:235602008 UMLS_CUI:C0341109 disease_ontology Fungal Esophagitis NCI2004_11_17:C27107 Fungal esophagitis (disorder) SNOMEDCT_2005_07_31:235602008 acute cystitis A cystitis characterized by a sudden onset or severe symptoms. DOID:13148 ICD10CM:N30.0 ICD9CM:595.0 NCI:C26934 SNOMEDCT_US_2015_03_01:155883005 SNOMEDCT_US_2015_03_01:197833009 SNOMEDCT_US_2015_03_01:266628008 SNOMEDCT_US_2015_03_01:68226007 UMLS_CUI:C0149523 disease_ontology urinary tract infection A cystitis characterized by a sudden onset or severe symptoms. url:http://en.wikipedia.org/wiki/Urinary_tract_infection tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). DOID:13149 Tuberculous Fibrosis of lung Tuberculous fibrosis of lung (disorder) Tuberculous fibrosis of lung, unspecified examination disease_ontology true NCI2004_11_17:C35088 Tuberculous Fibrosis of lung ICD9CM_2006:011.40 Tuberculous fibrosis of lung, unspecified examination SNOMEDCT_2005_07_31:90117007 Tuberculous fibrosis of lung (disorder) A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). url:http://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html sensory disorder of eyelid DOID:13157 Sensory disorder of eyelid Sensory disorder of eyelid (disorder) disease_ontology true ICD9CM_2006:374.44 Sensory disorder of eyelid SNOMEDCT_2005_07_31:38872009 Sensory disorder of eyelid (disorder) SNOMEDCT_2005_07_31:193950006 Sensory disorder of eyelid (disorder) scrotum squamous cell carcinoma DOID:13159 NCI:C4643 SNOMEDCT_US_2015_03_01:276860003 Scrotal squamous cell carcinoma UMLS_CUI:C0349551 disease_ontology squamous cell carcinoma of scrotum squamous cell carcinoma of scrotum (disorder) NCI2004_11_17:C4643 Scrotal squamous cell carcinoma SNOMEDCT_2005_07_31:276860003 squamous cell carcinoma of scrotum (disorder) scrotum melanoma DOID:13160 NCI:C7361 UMLS_CUI:C1331544 disease_ontology melanoma of scrotum NCI2004_11_17:C7361 melanoma of scrotum Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. DOID:13164 Pertussis pneumonia Pneumonia in whooping cough disease_ontology true ICD9CM_2006:484.3 Pneumonia in whooping cough Pertussis pneumonia SNOMEDCT_2005_07_31:155556004 A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. DOID:13165 Pneumonia in aspergillosis disease_ontology true An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/15735246 ICD9CM_2006:484.6 Pneumonia in aspergillosis allergic bronchopulmonary aspergillosis An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. DOID:13166 ICD10CM:B44.81 ICD9CM:518.6 MSH:D001229 NCI:C84547 OMIM mapping confirmed by DO. [SN]. OMIM:103920 SNOMEDCT_US_2015_03_01:37981002 UMLS_CUI:C0004031 disease_ontology pulmonary aspergillus disease An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. ls:IEDB url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm SNOMEDCT_2005_07_31:187086008 pulmonary aspergillus disease prepuce cancer DOID:13168 ICD10CM:C60.0 ICD9CM:187.1 SNOMEDCT_US_2015_03_01:363450006 SNOMEDCT_US_2015_03_01:93805009 UMLS_CUI:C0153598 disease_ontology malignant neoplasm of foreskin malignant tumor of foreskin (disorder) SNOMEDCT_2005_07_31:363450006 malignant tumor of foreskin (disorder) SNOMEDCT_2005_07_31:93805009 malignant neoplasm of foreskin MTHICD9_2006:187.1 malignant neoplasm of foreskin spermatic cord cancer DOID:13169 ICD10CM:C63.1 ICD9CM:187.6 NCI:C3559 SNOMEDCT_US_2015_03_01:154537000 SNOMEDCT_US_2015_03_01:269606007 SNOMEDCT_US_2015_03_01:363453008 SNOMEDCT_US_2015_03_01:94065000 Spermatic cord Ca UMLS_CUI:C0153603 disease_ontology malignant tumor of spermatic cord (disorder) malignant tumor of the Spermatic Cord SNOMEDCT_2005_07_31:269606007 Spermatic cord Ca SNOMEDCT_2005_07_31:154537000 Spermatic cord Ca NCI2004_11_17:C3559 malignant tumor of the Spermatic Cord SNOMEDCT_2005_07_31:363453008 malignant tumor of spermatic cord (disorder) SNOMEDCT_2005_07_31:94065000 Spermatic cord Ca dissociated nystagmus DOID:13174 Dissociated nystagmus Dissociated nystagmus (disorder) ICD10CM:H55.04 ICD9CM:379.55 MSH:D009759 SNOMEDCT_US_2015_03_01:9520006 UMLS_CUI:C0155380 disease_ontology Dissociated nystagmus ICD9CM_2006:379.55 Dissociated nystagmus (disorder) SNOMEDCT_2005_07_31:9520006 female genital tuberculosis DOID:13175 Tuberculosis of female genital organs disease_ontology true chronic erythremia in remission DOID:13177 disease_ontology true esophageal diverticulosis DOID:13185 MSH:D045723 UMLS_CUI:C0917875 disease_ontology megaesophagus DOID:13186 MSH:D004931 Megaesophagus (disorder) NCI:C34811 SNOMEDCT_US_2015_03_01:70667005 UMLS_CUI:C0025164 disease_ontology Megaesophagus (disorder) SNOMEDCT_2005_07_31:70667005 gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. Articular gout (disorder) DOID:13189 DOID:14144 EFO:0004274 Gouty arthropathy ICD10CM:M10 ICD10CM:M10.9 ICD9CM:274 ICD9CM:274.0 ICD9CM:274.00 ICD9CM:274.9 MSH:D006073 MSH:D015210 NCI:C34650 SNOMEDCT_US_2015_03_01:147966005 SNOMEDCT_US_2015_03_01:154745008 SNOMEDCT_US_2015_03_01:154746009 SNOMEDCT_US_2015_03_01:170733007 SNOMEDCT_US_2015_03_01:190827003 SNOMEDCT_US_2015_03_01:190828008 SNOMEDCT_US_2015_03_01:190844004 SNOMEDCT_US_2015_03_01:201661008 SNOMEDCT_US_2015_03_01:201662001 SNOMEDCT_US_2015_03_01:201672003 SNOMEDCT_US_2015_03_01:48440001 SNOMEDCT_US_2015_03_01:90560007 UMLS_CUI:C0003868 UMLS_CUI:C0018099 disease_ontology gouty arthritis An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. url:http://en.wikipedia.org/wiki/Gout url:http://www.mayoclinic.com/health/gout/DS00090 url:http://www.medicinenet.com/gout/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm Gouty arthropathy ICD9CM_2006:274.0 SNOMEDCT_2005_07_31:154746009 SNOMEDCT_2005_07_31:154745008 SNOMEDCT_2005_07_31:190827003 gouty arthritis Articular gout (disorder) SNOMEDCT_2005_07_31:48440001 brain cancer A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. BT - Brain tumour CSP:2006-2736 DOID:1319 DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 ICD10CM:C71 ICD10CM:C71.9 ICD9CM:191 ICD9CM:191.9 ICD9CM:239.6 MSH:D001932 NCI:C2907 NCI:C3568 NCI:C4952 NCI:C4954 NCI:C5115 NCI:C7710 SNOMEDCT_US_2015_03_01:126952004 SNOMEDCT_US_2015_03_01:154550004 SNOMEDCT_US_2015_03_01:188279009 SNOMEDCT_US_2015_03_01:188305001 SNOMEDCT_US_2015_03_01:189537005 SNOMEDCT_US_2015_03_01:254935002 SNOMEDCT_US_2015_03_01:269610005 SNOMEDCT_US_2015_03_01:275464006 SNOMEDCT_US_2015_03_01:363356001 SNOMEDCT_US_2015_03_01:428061005 SNOMEDCT_US_2015_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult disease_ontology malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain (disorder) neoplasm of unspecified nature of brain neoplasm of unspecified nature of brain (disorder) primary brain neoplasm primary brain tumor primary malignant neoplasm of brain (disorder) tumor of the Brain NCI2004_11_17:C3568 malignant tumor of Brain NCI2004_11_17:C5115 malignant tumor of adult brain NCI2004_11_17:C7710 brain neoplasm, adult SNOMEDCT_2005_07_31:126952004 neoplasm of brain (disorder) NCI2004_11_17:C2907 tumor of the Brain SNOMEDCT_2005_07_31:93727008 primary malignant neoplasm of brain (disorder) A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. url:http://www.cancer.gov/dictionary?CdrID=387264 CSP2005:2006-2736 brain neoplasm ICD9CM_2006:239.6 neoplasm of unspecified nature of brain BT - Brain tumour SNOMEDCT_2005_07_31:254935002 SNOMEDCT_2005_07_31:363356001 malignant brain tumour NCI2004_11_17:C4952 primary brain neoplasm SNOMEDCT_2005_07_31:189537005 neoplasm of unspecified nature of brain (disorder) NCI2004_11_17:C4954 malignant primary brain neoplasm pulmonary congestion and hypostasis DOID:13192 disease_ontology pulmonary congestion and hypostasis (disorder) pulmonary congestion and hypostasis NOS (disorder) true SNOMEDCT_2005_07_31:196115007 pulmonary congestion and hypostasis (disorder) SNOMEDCT_2005_07_31:196120007 pulmonary congestion and hypostasis NOS (disorder) non-toxic nodular goiter DOID:13194 Non-toxic nodular Goiter Non-toxic nodular goiter (disorder) Non-toxic nodular goiter NOS (disorder) Non-toxic nodular goitre Nontoxic nodular goiter Nontoxic nodular goiter NOS Nontoxic nodular goitre NOS Unspecified nontoxic nodular goiter disease_ontology true Nontoxic nodular goitre NOS SNOMEDCT_2005_07_31:190238007 MTHICD9_2006:241.9 Nontoxic nodular goiter NOS Non-toxic nodular goitre SNOMEDCT_2005_07_31:60968001 NCI2004_11_17:C34647 Non-toxic nodular Goiter Non-toxic nodular goiter (disorder) SNOMEDCT_2005_07_31:190236006 Non-toxic nodular goiter NOS (disorder) SNOMEDCT_2005_07_31:267371002 ICD9CM_2006:241.9 Unspecified nontoxic nodular goiter ICD9CM_2006:241 Nontoxic nodular goiter nontoxic goiter DOID:13195 Goiter, non-toxic NOS (disorder) Goitre, non-toxic NOS ICD10CM:E04.0 ICD10CM:E04.9 NCI:C35271 Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre Nontoxic Goiter SNOMEDCT_US_2015_03_01:154650009 SNOMEDCT_US_2015_03_01:154654000 SNOMEDCT_US_2015_03_01:267369002 SNOMEDCT_US_2015_03_01:267463000 SNOMEDCT_US_2015_03_01:286908001 SNOMEDCT_US_2015_03_01:60968001 UMLS_CUI:C0221777 disease_ontology Nodule-thyroid, non tox SNOMEDCT_2005_07_31:267463000 NCI2004_11_17:C35271 Nontoxic Goiter Goitre, non-toxic NOS SNOMEDCT_2005_07_31:154654000 Goiter, non-toxic NOS (disorder) SNOMEDCT_2005_07_31:286908001 Non-toxic simple goitre SNOMEDCT_2005_07_31:267369002 Non-toxic goitre SNOMEDCT_2005_07_31:60968001 Nodule-thyroid, non tox SNOMEDCT_2005_07_31:154650009 lingual goiter DOID:13196 Lingual goiter (disorder) MSH:D047268 SNOMEDCT_US_2015_03_01:75667007 UMLS_CUI:C0271760 disease_ontology Lingual goiter (disorder) SNOMEDCT_2005_07_31:75667007 nodular goiter DOID:13197 Goiter, nodular MSH:D006044 SNOMEDCT_US_2015_03_01:190236006 SNOMEDCT_US_2015_03_01:237570007 SNOMEDCT_US_2015_03_01:419153005 UMLS_CUI:C0018023 disease_ontology nodular goiter NOS nodular goitre MTHICD9_2006:241.9 nodular goiter NOS Goiter, nodular MTH:733 Goiter, nodular MTH:494 SNOMEDCT_2005_07_31:190236006 nodular goitre endemic goiter DOID:13198 Endemic goiter (disorder) Goiter, specified as simple ICD10CM:E01.0 ICD10CM:E01.2 ICD9CM:240.0 Iodine-deficiency-related (endemic) goiter, unspecified (disorder) Iodine-deficiency-related (endemic) goitre, unspecified Iodine-deficiency-related endemic goiter (disorder) Iodine-deficiency-related endemic goitre MSH:D006043 NCI:C35023 SNOMEDCT_US_2015_03_01:190234009 SNOMEDCT_US_2015_03_01:190316007 SNOMEDCT_US_2015_03_01:190319000 SNOMEDCT_US_2015_03_01:191043000 SNOMEDCT_US_2015_03_01:267369002 SNOMEDCT_US_2015_03_01:271949009 SNOMEDCT_US_2015_03_01:56805008 UMLS_CUI:C0018022 disease_ontology simple Goiter simple goiter (disorder) simple goitre Goiter, specified as simple ICD9CM_2006:240.0 SNOMEDCT_2005_07_31:267369002 simple goiter (disorder) Endemic goiter (disorder) SNOMEDCT_2005_07_31:56805008 SNOMEDCT_2005_07_31:190234009 simple goitre Iodine-deficiency-related endemic goiter (disorder) SNOMEDCT_2005_07_31:271949009 Iodine-deficiency-related (endemic) goiter, unspecified (disorder) SNOMEDCT_2005_07_31:191043000 Iodine-deficiency-related (endemic) goitre, unspecified SNOMEDCT_2005_07_31:190319000 NCI2004_11_17:C35023 simple Goiter Iodine-deficiency-related endemic goitre SNOMEDCT_2005_07_31:190316007 substernal goiter DOID:13200 MSH:D006045 Retrosternal thyroid goiter SNOMEDCT_US_2015_03_01:190234009 SNOMEDCT_US_2015_03_01:66392007 Substernal goiter (disorder) UMLS_CUI:C0018024 disease_ontology SNOMEDCT_2005_07_31:66392007 Substernal goiter (disorder) Retrosternal thyroid goiter SNOMEDCT_2005_07_31:190234009 secondary syphilitic iridocyclitis DOID:13202 Syphilitic iridocyclitis (secondary) disease_ontology secondary syphilitic iridocyclitis (disorder) true SNOMEDCT_2005_07_31:30080002 secondary syphilitic iridocyclitis (disorder) ICD9CM_2006:091.52 Syphilitic iridocyclitis (secondary) nodular prostate DOID:13206 DOID:13220 DOID:13225 ICD10CM:N40 ICD9CM:600.1 UMLS_CUI:C0748012 disease_ontology proliferative diabetic retinopathy DOID:13207 ICD9CM:362.02 NCI:C84457 PDR SNOMEDCT_US_2015_03_01:154679002 SNOMEDCT_US_2015_03_01:59276001 UMLS_CUI:C0154830 disease_ontology PDR SNOMEDCT_2005_07_31:59276001 background diabetic retinopathy Background Diabetic Retinopathy Background diabetic retinopathy (disorder) DOID:13208 ICD9CM:362.01 ICD9CM:362.03 NCI:C34408 NCI:C35668 Non proliferative diabetic retinopathy Non proliferative diabetic retinopathy (disorder) Non-Proliferative Diabetic Retinopathy SNOMEDCT_US_2015_03_01:154680004 SNOMEDCT_US_2015_03_01:31411005 SNOMEDCT_US_2015_03_01:390718008 SNOMEDCT_US_2015_03_01:390834004 UMLS_CUI:C0004606 disease_ontology Non proliferative diabetic retinopathy (disorder) SNOMEDCT_2005_07_31:390834004 Non proliferative diabetic retinopathy SNOMEDCT_2005_07_31:390718008 NCI2004_11_17:C35668 Non-Proliferative Diabetic Retinopathy Background Diabetic Retinopathy NCI2004_11_17:C34408 Background diabetic retinopathy (disorder) SNOMEDCT_2005_07_31:31411005 right bundle branch block DOID:13209 ICD9CM:426.51 Right bundle branch block with left posterior fascicular block (disorder) SNOMEDCT_US_2015_03_01:46319007 UMLS_CUI:C0155704 disease_ontology Right bundle branch block with left posterior fascicular block (disorder) SNOMEDCT_2005_07_31:46319007 secondary malignant neoplasm of brain and spinal cord DOID:13211 disease_ontology secondary malignant neoplasm of brain and spinal cord (disorder) secondary malignant neoplasm of brain or spinal cord NOS (disorder) true SNOMEDCT_2005_07_31:188462001 secondary malignant neoplasm of brain and spinal cord (disorder) SNOMEDCT_2005_07_31:188465004 secondary malignant neoplasm of brain or spinal cord NOS (disorder) metastasis to skin DOID:13212 disease_ontology metastasis to skin metastatic skin carcinoma metastatic tumor to the skin secondary malignant neoplasm of skin secondary malignant neoplasm of skin (disorder) secondary malignant neoplasm of skin NOS (disorder) true NCI2004_11_17:C5629 metastatic tumor to the skin SNOMEDCT_2005_07_31:188461008 secondary malignant neoplasm of skin NOS (disorder) NCI2004_11_17:C5628 metastatic skin carcinoma SNOMEDCT_2005_07_31:154570005 metastasis to skin SNOMEDCT_2005_07_31:94579000 secondary malignant neoplasm of skin (disorder) ICD9CM_2006:198.2 secondary malignant neoplasm of skin SNOMEDCT_2005_07_31:188453003 metastasis to skin metastatic cancer to the breast DOID:13213 disease_ontology metastatic tumor to the breast secondary malignant neoplasm of breast secondary malignant neoplasm of female breast (disorder) true NCI2004_11_17:C7511 metastatic tumor to the breast SNOMEDCT_2005_07_31:94297009 secondary malignant neoplasm of female breast (disorder) ICD9CM_2006:198.81 secondary malignant neoplasm of breast hole retinal cyst DOID:13214 ICD10CM:H35.34 ICD9CM:362.54 Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst SNOMEDCT_US_2015_03_01:1079004 SNOMEDCT_US_2015_03_01:193388002 SNOMEDCT_US_2015_03_01:267612009 UMLS_CUI:C1261331 degeneration of macula due to cyst, hole or pseudohole (disorder) disease_ontology Macular cyst or hole SNOMEDCT_2005_07_31:193388002 Macular pseudohole retinal cyst SNOMEDCT_2005_07_31:1079004 SNOMEDCT_2005_07_31:267612009 degeneration of macula due to cyst, hole or pseudohole (disorder) ICD9CM_2006:362.54 Macular cyst, hole, or pseudohole of retina transsexuality with heterosexual history DOID:13219 Trans-sexualism with heterosexual history Transsexuality with heterosexual history (disorder) disease_ontology true SNOMEDCT_2005_07_31:191785009 Transsexuality with heterosexual history (disorder) ICD9CM_2006:302.53 Trans-sexualism with heterosexual history submucous uterine fibroid DOID:13222 ICD10CM:D25.0 ICD9CM:218.0 SNOMEDCT_US_2015_03_01:95279007 Submucous leiomyoma of uterus Submucous leiomyoma of uterus (disorder) UMLS_CUI:C0153993 disease_ontology SNOMEDCT_2005_07_31:95279007 Submucous leiomyoma of uterus (disorder) ICD9CM_2006:218.0 Submucous leiomyoma of uterus uterine fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus. DOID:13223 EFO:0000731 HP:0000131 ICD10CM:D25 ICD10CM:D25.9 ICD9CM:218 ICD9CM:218.9 MSH:D007889 NCI:C3434 OMIM mapping confirmed by DO. [LS]. OMIM:150699 Plexiform leiomyoma SNOMEDCT_US_2015_03_01:154616000 SNOMEDCT_US_2015_03_01:189106003 SNOMEDCT_US_2015_03_01:44598004 SNOMEDCT_US_2015_03_01:95315005 UMLS_CUI:C0042133 UTERUS FIBROMA disease_ontology leiomyoma of Corpus Uteri uterine leiomyoma NCI2004_11_17:C3434 leiomyoma of Corpus Uteri MTH:769 UTERUS FIBROMA A uterine benign neoplasm derived from the smooth muscle layer of the uterus. url:http://en.wikipedia.org/wiki/Uterine_fibroid url:http://www.nlm.nih.gov/medlineplus/uterinefibroids.html Plexiform leiomyoma SNOMEDCT_2005_07_31:44598004 ICD9CM_2006:218 uterine leiomyoma introverted personality DOID:13224 disease_ontology true oculoglandular tularemia A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. DOID:13226 ICD10CM:A21.1 ICD9CM:021.3 Oculoglandular tularemia (disorder) SNOMEDCT_US_2015_03_01:73363000 UMLS_CUI:C0152944 disease_ontology A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. url:http://www.cdc.gov/tularemia/signssymptoms/ Oculoglandular tularemia (disorder) SNOMEDCT_2005_07_31:73363000 retinal dystrophies primarily involving Bruch's membrane DOID:13227 ICD9CM:362.77 UMLS_CUI:C0154866 disease_ontology retinal dystrophies primarily involving Bruch membrane malignant neoplasm of trachea, bronchus and lung DOID:1323 disease_ontology malignant neoplasm of trachea, bronchus and lung (disorder) malignant neoplasm of trachea, bronchus, and lung true SNOMEDCT_2005_07_31:187852000 malignant neoplasm of trachea, bronchus and lung (disorder) ICD9CM_2006:162 malignant neoplasm of trachea, bronchus, and lung Diffuse cholesteatosis of middle ear and mastoid DOID:13232 disease_ontology true Haverhill fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. DOID:13238 ICD10CM:A25.1 ICD9CM:026.1 SNOMEDCT_US_2015_03_01:52138004 Streptobacillary fever Streptobacillary rat-bite fever Streptobacillosis UMLS_CUI:C0152063 disease_ontology ICD9CM_2006:026.1 Streptobacillary fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002324/ internal pathological resorption DOID:13239 ICD9CM:521.41 UMLS_CUI:C1456167 disease_ontology lung cancer A respiratory system cancer that is located_in the lung. DOID:13075 DOID:1322 DOID:1324 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 SNOMEDCT_US_2015_03_01:187860004 SNOMEDCT_US_2015_03_01:187863002 SNOMEDCT_US_2015_03_01:187864008 SNOMEDCT_US_2015_03_01:187867001 SNOMEDCT_US_2015_03_01:187868006 SNOMEDCT_US_2015_03_01:187871003 SNOMEDCT_US_2015_03_01:187874006 SNOMEDCT_US_2015_03_01:269464000 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493 disease_ontology lung neoplasm A respiratory system cancer that is located_in the lung. url:http://en.wikipedia.org/wiki/Lung_cancer tooth resorption DOID:13240 ICD10CM:K03.3 ICD9CM:521.4 MSH:D014091 SNOMEDCT_US_2015_03_01:196316003 SNOMEDCT_US_2015_03_01:70931000 UMLS_CUI:C0040451 disease_ontology Behcet's disease A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. Adamantiades-Behcet disease Behcet syndrome Behcet's syndrome Behet's syndrome (disorder) DOID:13241 EFO:0003780 ICD10CM:M35.2 ICD9CM:136.1 MSH:D001528 NCI:C34416 OMIM mapping confirmed by DO. [SN]. OMIM:109650 SNOMEDCT_US_2015_03_01:154424000 SNOMEDCT_US_2015_03_01:310701003 SNOMEDCT_US_2015_03_01:41225007 UMLS_CUI:C0004943 disease_ontology triple symptom complex A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html Behcet's syndrome ICD9CM_2006:136.1 Behet's syndrome (disorder) SNOMEDCT_2005_07_31:41225007 Adamantiades-Behcet disease SNOMEDCT_2005_07_31:310701003 CSP2005:0944-7825 triple symptom complex mucocele of appendix Appendicele Mucocele DOID:13248 Mucocele of appendix (disorder) NCI:C3241 SNOMEDCT_US_2015_03_01:53773002 UMLS_CUI:C0026684 disease_ontology Mucocele of appendix (disorder) SNOMEDCT_2005_07_31:53773002 Appendicele Mucocele NCI2004_11_17:C3241 pneumatosis cystoides intestinalis DOID:13249 MSH:D011006 Pneumatosis cystoides intestinalis (disorder) SNOMEDCT_US_2015_03_01:117631000119103 SNOMEDCT_US_2015_03_01:17465007 UMLS_CUI:C0032266 disease_ontology Pneumatosis cystoides intestinalis (disorder) SNOMEDCT_2005_07_31:17465007 bronchus cancer A respiratory system cancer that is located_in the bronchus. DOID:1325 ICD10CM:C34 ICD10CM:C34.9 ICD9CM:162.9 SNOMEDCT_US_2015_03_01:187875007 SNOMEDCT_US_2015_03_01:190092003 SNOMEDCT_US_2015_03_01:269465004 UMLS_CUI:C0348343 disease_ontology malignant neoplasm of bronchus and lung, unspecified malignant neoplasm of bronchus or lung NOS (disorder) malignant neoplasm of bronchus or lung, unspecified (disorder) A respiratory system cancer that is located_in the bronchus. url:http://en.wikipedia.org/wiki/Bronchus ICD9CM_2006:162.9 malignant neoplasm of bronchus and lung, unspecified SNOMEDCT_2005_07_31:190092003 malignant neoplasm of bronchus or lung, unspecified (disorder) SNOMEDCT_2005_07_31:269465004 malignant neoplasm of bronchus or lung NOS (disorder) diarrhea A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. DOID:0050006 DOID:13250 ICD9CM:009.2 MSH:D004403 SNOMEDCT_US_2015_03_01:111939009 SNOMEDCT_US_2015_03_01:154268000 SNOMEDCT_US_2015_03_01:154279005 SNOMEDCT_US_2015_03_01:186165000 SNOMEDCT_US_2015_03_01:186167008 SNOMEDCT_US_2015_03_01:19213003 SNOMEDCT_US_2015_03_01:236076004 SNOMEDCT_US_2015_03_01:266173000 SNOMEDCT_US_2015_03_01:266180003 UMLS_CUI:C0013369 diarrhea of presumed infectious origin diarrhoea disease_ontology A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. DOID:13251 disease_ontology true A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf mesenteric vascular occlusion DOID:13252 MSH:D008641 UMLS_CUI:C0025472 disease_ontology jejunal disease DOID:13253 disease_ontology true diverticulitis of colon A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. DOID:10757 DOID:13254 Diverticulitis of colon with hemorrhage Diverticulosis of colon with hemorrhage ICD9CM:562.12 UMLS_CUI:C0156168 disease_ontology A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. url:https://en.wikipedia.org/wiki/Diverticulitis Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. DOID:13257 Histoplasma duboisii with endocarditis (disorder) disease_ontology true An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview Histoplasma duboisii with endocarditis (disorder) SNOMEDCT_2005_07_31:187051006 typhoid fever A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. DOID:13258 DOID:3054 Fever: [typhoid] or [enteric] ICD10CM:A01.0 ICD10CM:A01.00 ICD9CM:002.0 MSH:D014435 NCI:C35089 SNOMEDCT_US_2015_03_01:154270009 SNOMEDCT_US_2015_03_01:186091002 SNOMEDCT_US_2015_03_01:266174006 SNOMEDCT_US_2015_03_01:4834000 Typhoid Typhoid fever Typhoid fever (disorder) Typhoid infection UMLS_CUI:C0041466 disease_ontology typhoid MTHICD9_2006:002.0 Typhoid infection SNOMEDCT_2005_07_31:154270009 Typhoid SNOMEDCT_2005_07_31:4834000 Typhoid fever (disorder) ICD9CM_2006:002.0 Typhoid fever A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. url:http://www.merriam-webster.com/medlineplus/typhoid%20fever Fever: [typhoid] or [enteric] SNOMEDCT_2005_07_31:186091002 CSP2005:0368-2741 typhoid SNOMEDCT_2005_07_31:266174006 Typhoid hallucinatory state induced by drug DOID:13262 Drug-induced hallucinatory state Drug-induced hallucinosis (disorder) Drug-induced psychotic disorder with hallucinations disease_ontology true Drug-induced psychotic disorder with hallucinations ICD9CM_2006:292.12 Drug-induced hallucinatory state SNOMEDCT_2005_07_31:28368009 Drug-induced hallucinosis (disorder) SNOMEDCT_2005_07_31:191486006 porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. DOID:13268 Hematoporphyria ICD10CM:E80.20 ICD9CM:277.1 MSH:D011164 NCI:C97096 Porphyrinopathy (disorder) SNOMEDCT_US_2015_03_01:154768004 SNOMEDCT_US_2015_03_01:190912004 SNOMEDCT_US_2015_03_01:190916001 SNOMEDCT_US_2015_03_01:238052001 SNOMEDCT_US_2015_03_01:274090006 SNOMEDCT_US_2015_03_01:29094004 SNOMEDCT_US_2015_03_01:371628009 SNOMEDCT_US_2015_03_01:418470004 SNOMEDCT_US_2015_03_01:86292002 UMLS_CUI:C0032708 disease_ontology disorder of porphyrin and hem metabolism disorder of porphyrin metabolism An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. url:http://en.wikipedia.org/wiki/Porphyria#Subtypes Hematoporphyria MTHICD9_2006:277.1 Porphyrinopathy (disorder) SNOMEDCT_2005_07_31:371628009 SNOMEDCT_2005_07_31:238052001 disorder of porphyrin and hem metabolism ICD9CM_2006:277.1 disorder of porphyrin metabolism hereditary coproporphyria Coproporphyrinogen oxidase deficiency DOID:13269 Hereditary coproporphyria Hereditary coproporphyria (disorder) ICD10CM:E80.29 MSH:D046349 NCI:C84759 OMIM mapping confirmed by DO. [SN]. OMIM:121300 SNOMEDCT_US_2015_03_01:238055004 SNOMEDCT_US_2015_03_01:7425008 UMLS_CUI:C0162531 disease_ontology hereditary coproporphyria porphyria Hereditary coproporphyria (disorder) SNOMEDCT_2005_07_31:7425008 Coproporphyrinogen oxidase deficiency SNOMEDCT_2005_07_31:238055004 Hereditary coproporphyria MTHICD9_2006:277.1 CSP2005:1849-7674 hereditary coproporphyria porphyria erythropoietic protoporphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. DOID:13270 EPP (erythropoietic protoporphyria porphyria) Erythropoietic protoporphyria (disorder) ICD10CM:E80.0 MSH:D046351 NCI:C84698 OMIM:177000 OMIM:300752 ORDO:79278 Protoporphyria SNOMEDCT_US_2015_03_01:51022005 UMLS_CUI:C0162568 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. url:http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria MTHICD9_2006:277.1 Protoporphyria Erythropoietic protoporphyria (disorder) SNOMEDCT_2005_07_31:51022005 CSP2005:1849-7560 EPP (erythropoietic protoporphyria porphyria) cutaneous porphyria DOID:13271 Erythropoietic porphyria (disorder) ICD10CM:E80.0 MSH:D017092 NCI:C84697 OMIM mapping confirmed by DO. [SN]. OMIM:263700 SNOMEDCT_US_2015_03_01:190913009 SNOMEDCT_US_2015_03_01:22935002 SNOMEDCT_US_2015_03_01:67312003 UMLS_CUI:C0162530 disease_ontology Erythropoietic porphyria (disorder) SNOMEDCT_2005_07_31:67312003 Klebsiella pneumonia A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble "red-currant jelly". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. DOID:13272 Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder) disease_ontology true ICD9CM_2006:482.0 Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder) SNOMEDCT_2005_07_31:64479007 A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble "red-currant jelly". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. url:http://books.google.com/books?id=Bv68Qo6apvQC&pg=PA639&lpg#v=onepage&q=&f=false url:http://en.wikipedia.org/wiki/Klebsiella_pneumonia Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. DOID:13273 Pneumonia due to Escherichia coli (disorder) Pneumonia due to escherichia coli Pneumonia due to escherichia coli [E. coli] disease_ontology pneumonia due to escherichia coli true ICD9CM_2006:482.82 Pneumonia due to escherichia coli [E. coli] Pneumonia due to Escherichia coli (disorder) SNOMEDCT_2005_07_31:51530003 MTHICD9_2006:482.82 Pneumonia due to escherichia coli A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. url:http://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. DOID:13274 Enzootic pneumonia of calves (disorder) disease_ontology true Enzootic pneumonia of calves (disorder) SNOMEDCT_2005_07_31:57086000 A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. DOID:13275 Rickettsial pneumonia (disorder) disease_ontology true Rickettsial pneumonia (disorder) SNOMEDCT_2005_07_31:233621003 A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false Mycoplasma pneumoniae pneumonia A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. DOID:13276 Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia disease_ontology true A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm Pneumonia due to Mycoplasma pneumoniae (disorder) SNOMEDCT_2005_07_31:46970008 Mycoplasmal pneumonia SNOMEDCT_2005_07_31:195894001 MTHICD9_2006:483.0 Pneumonia due to Eaton's agent Mycoplasmal pneumonia SNOMEDCT_2005_07_31:195895000 Mycoplasmal pneumonia SNOMEDCT_2005_07_31:155554001 ICD9CM_2006:483.0 Pneumonia due to Mycoplasma pneumoniae CSP2005:2596-5678 cold agglutinin positive pneumonia Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. DOID:13277 disease_ontology mycoplasmal pneumonia of swine true A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. url:http://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. DOID:13278 Salmonella pneumonia (disorder) disease_ontology true SNOMEDCT_2005_07_31:2523007 Salmonella pneumonia (disorder) A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false Rift Valley fever A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. DOID:1328 ICD10CM:A92.4 MSH:D012295 SNOMEDCT_US_2015_03_01:402917003 SNOMEDCT_US_2015_03_01:7077006 UMLS_CUI:C0035613 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. url:ftp://ftp.fao.org/docrep/fao/005/y4140e/y4140e00.pdf url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm url:http://www.who.int/mediacentre/factsheets/fs207/en/ intestinal tuberculosis A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. DOID:13282 ICD9CM:014.8 UMLS_CUI:C0152724 disease_ontology tuberculosis of intestine A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. url:http://smj.sma.org.sg/5006/5006pe1.pdf enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. DOID:13285 Enteroinvasive Escherichia coli gastrointestinal tract infection Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder) disease_ontology intestinal infectious disease due to enteroinvasive E. coli true Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240355008 ICD9CM_2006:008.03 intestinal infectious disease due to enteroinvasive E. coli An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. url:http://www.textbookofbacteriology.net/e.coli_4.html Enteroinvasive Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186132008 crater-like holes of optic disc Crater-like holes of optic disc (disorder) Crater-like optic disc holes (disorder) DOID:13295 ICD9CM:377.22 SNOMEDCT_US_2015_03_01:19148004 SNOMEDCT_US_2015_03_01:194048008 UMLS_CUI:C0155298 disease_ontology Crater-like optic disc holes (disorder) SNOMEDCT_2005_07_31:194048008 Crater-like holes of optic disc (disorder) SNOMEDCT_2005_07_31:19148004 vaginal mullerian papilloma DOID:133 NCI:C40255 UMLS_CUI:C1519926 disease_ontology Scheuermann's disease An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. DOID:13300 ICD10CM:M42.0 ICD10CM:M42.00 ICD9CM:732.0 Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine MSH:D012544 NCI:C34999 OMIM mapping confirmed by DO. [SN]. OMIM:181440 SNOMEDCT_US_2015_03_01:156816000 SNOMEDCT_US_2015_03_01:203361005 SNOMEDCT_US_2015_03_01:203362003 SNOMEDCT_US_2015_03_01:203364002 SNOMEDCT_US_2015_03_01:203415006 SNOMEDCT_US_2015_03_01:53406005 Scheuermann disease Scheuermann's kyphosis Sherman's Disease UMLS_CUI:C0036310 disease_ontology ICD9CM_2006:732.0 Juvenile osteochondrosis of spine Juvenile osteochondrosis of Scheurermann MTHICD9_2006:732.0 Juvenile osteochondritis of the spine SNOMEDCT_2005_07_31:203415006 An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. url:http://emedicine.medscape.com/article/311959-overview url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease url:http://www.spineuniverse.com/conditions/kyphosis/scheuermanns-kyphosis-scheuermanns-disease url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. Anterior nasal diphtheria Anterior nasal diphtheria (disorder) DOID:13305 disease_ontology true Anterior nasal diphtheria ICD9CM_2006:032.2 Anterior nasal diphtheria (disorder) SNOMEDCT_2005_07_31:15682004 A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. DOID:13306 Diphtheritic cystitis (disorder) ICD10CM:A36.85 ICD9CM:032.84 SNOMEDCT_US_2015_03_01:197847008 SNOMEDCT_US_2015_03_01:48278001 UMLS_CUI:C0152954 disease_ontology A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. url:http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/18889690 Diphtheritic cystitis (disorder) SNOMEDCT_2005_07_31:48278001 pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. Conjunctival diphtheria Conjunctival diphtheria (disorder) DOID:13307 Pseudomembranous Diphtheritic Conjunctivitis disease_ontology true A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. url:http://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false Conjunctival diphtheria (disorder) SNOMEDCT_2005_07_31:7773002 Conjunctival diphtheria ICD9CM_2006:032.81 NCI2004_11_17:C34543 Pseudomembranous Diphtheritic Conjunctivitis diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. DOID:13308 Diphtheritic myocarditis (disorder) disease_ontology true Diphtheritic myocarditis (disorder) SNOMEDCT_2005_07_31:26117009 A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. url:http://www.journals.uchicago.edu/doi/abs/10.1086/344176 nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic "bullneck" apprearance. DOID:13309 Nasopharyngeal Diphtheria Nasopharyngeal diphtheria (disorder) disease_ontology true Nasopharyngeal diphtheria (disorder) SNOMEDCT_2005_07_31:75589004 NCI2004_11_17:C34547 Nasopharyngeal Diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic "bullneck" apprearance. url:http://www.jstor.org/stable/3417440?seq=2 diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. DOID:13310 ICD10CM:A36.89 ICD9CM:032.83 SNOMEDCT_US_2015_03_01:13596001 UMLS_CUI:C0152953 disease_ontology A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. url:http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false pancreatic mucinous ductal ectasia DOID:13313 NCI:C5717 UMLS_CUI:C1335310 disease_ontology relapsing pancreatitis DOID:13315 disease_ontology true exocrine pancreatic insufficiency DOID:13316 Exocrine pancreatic insufficiency (disorder) MSH:D010188 NCI:C84316 SNOMEDCT_US_2015_03_01:47367009 UMLS_CUI:C0267963 disease_ontology Exocrine pancreatic insufficiency (disorder) SNOMEDCT_2005_07_31:47367009 hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. DOID:13317 DOID:9996 ICD10CM:E16.9 Islet cell hyperplasia MSH:D046768 NCI:C4375 OMIM mapping confirmed by DO. [SN]. OMIM:256450 OMIM:601820 OMIM:602485 OMIM:606762 OMIM:609968 OMIM:609975 OMIM:610021 SNOMEDCT_US_2015_03_01:190450004 SNOMEDCT_US_2015_03_01:42681006 SNOMEDCT_US_2015_03_01:66149005 UMLS_CUI:C0027773 disease_ontology nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia Islet cell hyperplasia SNOMEDCT_2005_07_31:66149005 lower limb lymph node mast cell malignancy DOID:13319 Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) disease_ontology malignant mast cell tumors involving lymph nodes of inguinal region and lower limb true ICD9CM_2006:202.65 malignant mast cell tumors involving lymph nodes of inguinal region and lower limb Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188666005 Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. DOID:1332 disease_ontology true A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Bunyaviridae chronic follicular conjunctivitis DOID:13326 ICD10CM:H10.43 ICD9CM:372.12 SNOMEDCT_US_2015_03_01:39429002 UMLS_CUI:C0155147 chronic follicular conjunctivitis (disorder) disease_ontology SNOMEDCT_2005_07_31:39429002 chronic follicular conjunctivitis (disorder) anatomical narrow angle borderline glaucoma DOID:13327 ICD9CM:365.02 UMLS_CUI:C0154941 disease_ontology diabetic cataract Cataract - diabetic DOID:13328 Diabetic cataract Diabetic cataract (disorder) ICD9CM:366.41 SNOMEDCT_US_2015_03_01:154678005 SNOMEDCT_US_2015_03_01:155129005 SNOMEDCT_US_2015_03_01:267471001 SNOMEDCT_US_2015_03_01:267722005 SNOMEDCT_US_2015_03_01:43959009 UMLS_CUI:C0011876 disease_ontology Diabetic cataract (disorder) SNOMEDCT_2005_07_31:43959009 Diabetic cataract SNOMEDCT_2005_07_31:155129005 Cataract - diabetic SNOMEDCT_2005_07_31:267471001 Diabetic cataract SNOMEDCT_2005_07_31:267722005 Cataract - diabetic SNOMEDCT_2005_07_31:154678005 Diabetic cataract ICD9CM_2006:366.41 toxic optic neuropathy DOID:13329 ICD10CM:H46.3 ICD9CM:377.34 SNOMEDCT_US_2015_03_01:194053003 SNOMEDCT_US_2015_03_01:26125006 Toxic optic neuropathy (disorder) Toxic optic neuropathy [Ambiguous] UMLS_CUI:C0155303 disease_ontology SNOMEDCT_2005_07_31:26125006 Toxic optic neuropathy (disorder) SNOMEDCT_2005_07_31:194053003 Toxic optic neuropathy [Ambiguous] african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. DOID:1333 disease_ontology true A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf hypertrophy of tongue papillae DOID:13333 ICD10CM:K14.3 ICD9CM:529.3 SNOMEDCT_US_2015_03_01:196584007 SNOMEDCT_US_2015_03_01:6971002 Tongue papillary hypertrophy NOS (disorder) UMLS_CUI:C0392494 disease_ontology hypertrophy of tongue papillae (disorder) SNOMEDCT_2005_07_31:196584007 Tongue papillary hypertrophy NOS (disorder) SNOMEDCT_2005_07_31:6971002 hypertrophy of tongue papillae (disorder) Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. DOID:13335 Hepatitis due to toxoplasmosis Toxoplasma hepatitis (disorder) disease_ontology true A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. url:http://www.ncbi.nlm.nih.gov/pubmed/7111119 SNOMEDCT_2005_07_31:187197006 Toxoplasma hepatitis (disorder) Hepatitis due to toxoplasmosis ICD9CM_2006:130.5 congenital toxoplasmosis A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. Congenital toxoplasmosis Congenital toxoplasmosis (disorder) DOID:13336 ICD10CM:P37.1 MSH:D014125 NCI:C50503 SNOMEDCT_US_2015_03_01:157118007 SNOMEDCT_US_2015_03_01:206335001 SNOMEDCT_US_2015_03_01:268875000 SNOMEDCT_US_2015_03_01:73893000 Toxoplasmosis - congen. UMLS_CUI:C0040560 disease_ontology A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh url:http://www.who.int/bulletin/volumes/91/7/12-111732.pdf SNOMEDCT_2005_07_31:268875000 Toxoplasmosis - congen. Congenital toxoplasmosis (disorder) SNOMEDCT_2005_07_31:73893000 Congenital toxoplasmosis SNOMEDCT_2005_07_31:206335001 Congenital toxoplasmosis MTHICD9_2006:771.2 SNOMEDCT_2005_07_31:157118007 Toxoplasmosis - congen. Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. DOID:13338 Myocarditis due to acquired toxoplasmosis (disorder) Myocarditis due to toxoplasmosis Toxoplasma myocarditis (disorder) disease_ontology true ICD9CM_2006:130.3 Myocarditis due to toxoplasmosis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. url:http://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf SNOMEDCT_2005_07_31:187195003 Toxoplasma myocarditis (disorder) Myocarditis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:76534005 Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. DOID:1334 Reoviridae disease disease due to Orthoreovirus disease due to Reoviridae (disorder) disease due to Reovirus (disorder) disease_ontology true A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/104.html SNOMEDCT_2005_07_31:105634001 disease due to Reoviridae (disorder) SNOMEDCT_2005_07_31:414016004 disease due to Orthoreovirus CSP2005:3100-1539 Reoviridae disease SNOMEDCT_2005_07_31:28556001 disease due to Reovirus (disorder) parasitic conjunctivitis DOID:13341 ICD9CM:372.15 Parasitic conjunctivitis (disorder) SNOMEDCT_US_2015_03_01:13816006 UMLS_CUI:C0155148 disease_ontology Parasitic conjunctivitis (disorder) SNOMEDCT_2005_07_31:13816006 Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. DOID:13342 Pneumonitis due to toxoplasmosis Toxoplasma pneumonitis (disorder) disease_ontology true SNOMEDCT_2005_07_31:187196002 Toxoplasma pneumonitis (disorder) A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. url:http://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/8519364 ICD9CM_2006:130.4 Pneumonitis due to toxoplasmosis ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. Chorioretinitis due to toxoplasmosis Conjunctivitis due to acquired toxoplasmosis (disorder) Conjunctivitis due to toxoplasmosis DOID:13337 DOID:13340 DOID:13343 Ocular toxoplasmosis (disorder) Toxoplasma chorioretinitis Toxoplasma conjunctivitis Toxoplasmosis chorioretinitis (disorder) disease_ontology ocular toxoplasmosis true Ocular toxoplasmosis (disorder) SNOMEDCT_2005_07_31:416481006 Conjunctivitis due to toxoplasmosis ICD9CM_2006:130.1 SNOMEDCT_2005_07_31:187194004 Toxoplasmosis chorioretinitis (disorder) CSP2005:2214-6054 ocular toxoplasmosis Conjunctivitis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:67372006 Chorioretinitis due to toxoplasmosis ICD9CM_2006:130.2 A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh laryngeal cartilage cancer DOID:13348 ICD10CM:C32.3 ICD9CM:161.3 SNOMEDCT_US_2015_03_01:109370001 SNOMEDCT_US_2015_03_01:187847005 SNOMEDCT_US_2015_03_01:363431006 UMLS_CUI:C0153486 disease_ontology malignant neoplasm of laryngeal cartilage NOS (disorder) malignant neoplasm of laryngeal cartilages malignant tumor of laryngeal cartilage (disorder) SNOMEDCT_2005_07_31:363431006 malignant tumor of laryngeal cartilage (disorder) ICD9CM_2006:161.3 malignant neoplasm of laryngeal cartilages SNOMEDCT_2005_07_31:187847005 malignant neoplasm of laryngeal cartilage NOS (disorder) bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. DOID:1335 Soremuzzle disease_ontology true A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. url:http://en.wikipedia.org/wiki/Bluetongue_disease gender identity disorder in children DOID:13350 Gender identity disorder of childhood (disorder) disease_ontology true Gender identity disorder of childhood (disorder) SNOMEDCT_2005_07_31:5095008 pedophilia DOID:13351 ICD10CM:F65.4 ICD9CM:302.2 MSH:D010378 NCI:C94355 Paedophilia SNOMEDCT_US_2015_03_01:154907002 SNOMEDCT_US_2015_03_01:192516001 SNOMEDCT_US_2015_03_01:268763002 SNOMEDCT_US_2015_03_01:84002002 UMLS_CUI:C0030764 disease_ontology Paedophilia SNOMEDCT_2005_07_31:268763002 ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. DOID:13352 ICD9CM:302.0 SNOMEDCT_US_2015_03_01:52813007 UMLS_CUI:C0233880 disease_ontology A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. url:http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation diffuse interstitial keratitis DOID:13353 Diffuse interstitial keratitis (disorder) ICD10CM:H16.32 ICD9CM:370.52 SNOMEDCT_US_2015_03_01:17157001 SNOMEDCT_US_2015_03_01:193785001 SNOMEDCT_US_2015_03_01:267635007 UMLS_CUI:C0155089 disease_ontology Diffuse interstitial keratitis (disorder) SNOMEDCT_2005_07_31:17157001 senile ectropion DOID:13356 ICD9CM:374.11 Involutional ectropion SNOMEDCT_US_2015_03_01:71659009 UMLS_CUI:C0155193 disease_ontology Involutional ectropion SNOMEDCT_2005_07_31:71659009 chondromalacia patellae Chondromalacia of patella Chondromalacia of patella (disorder) Chondromalacia patellae DOID:13357 ICD10CM:M22.4 ICD9CM:717.7 MSH:D046789 OMIM mapping confirmed by DO. [SN]. OMIM:168900 SNOMEDCT_US_2015_03_01:156521009 SNOMEDCT_US_2015_03_01:36071006 UMLS_CUI:C0008475 disease_ontology softening of articular cartilage of patella Chondromalacia patellae SNOMEDCT_2005_07_31:156521009 MTHICD9_2006:717.7 softening of articular cartilage of patella Chondromalacia of patella ICD9CM_2006:717.7 Chondromalacia of patella (disorder) SNOMEDCT_2005_07_31:36071006 Ehlers-Danlos syndrome A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. Cutis hyperelastica DOID:13359 DOID:14696 ICD10CM:Q79.6 ICD9CM:756.83 MSH:D004535 NCI:C34568 OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. OMIM:225400 SNOMEDCT_US_2015_03_01:157008000 SNOMEDCT_US_2015_03_01:2300005 SNOMEDCT_US_2015_03_01:238848002 SNOMEDCT_US_2015_03_01:268352002 SNOMEDCT_US_2015_03_01:398114001 UMLS_CUI:C0013720 disease_ontology elastic skin Cutis hyperelastica SNOMEDCT_2005_07_31:238848002 CSP2005:1849-3115 elastic skin A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. url:http://emedicine.medscape.com/article/1114004-overview url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome url:http://www.ednf.org/ url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 url:http://www.medicinenet.com/ehlers-danlos_syndrome/article.htm url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos url:http://www.ncbi.nlm.nih.gov/pubmed/23711271 url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. DOID:1336 Nairobi sheep virus disease (disorder) Nairobi sheep virus gastroenteritis disease_ontology true Nairobi sheep virus disease (disorder) SNOMEDCT_2005_07_31:24069003 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf nephrotic syndrome with lesion of proliferative glomerulonephritis DOID:13361 Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis disease_ontology true NCI2004_11_17:C35214 Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis chronobiology disease DOID:13364 MSH:D021081 UMLS_CUI:C0236811 disease_ontology reading disorder A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. DOID:13365 ICD9CM:315.09 UMLS_CUI:C0154631 disease_ontology A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. url:http://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29 url:http://en.wikipedia.org/wiki/Reading_disability Stiff-Person syndrome A movement disease that is of unknown etiology characterized by progressive rigidity. DOID:13366 ICD10CM:G25.82 ICD9CM:333.91 MSH:D016750 NCI:C85170 OMIM:184850 SNOMEDCT_US_2015_03_01:5217008 Stiff-man syndrome Stiff-man syndrome (disorder) UMLS_CUI:C0085292 disease_ontology stiff man syndrome ICD9CM_2006:333.91 Stiff-man syndrome SNOMEDCT_2005_07_31:5217008 Stiff-man syndrome (disorder) A movement disease that is of unknown etiology characterized by progressive rigidity. ls:IEDB url:http://en.wikipedia.org/wiki/Stiff_person_syndrome CSP2005:2057-3403 stiff man syndrome tinea profunda (Deep seated dermatophytosis) or (granuloma: [trichophyticum] or [Majocchi's]) A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. DOID:13368 Deep Seated Dermatophytosis Deep seated dermatophytosis Deep seated dermatophytosis (disorder) Granuloma trichophyticum Majocchi's granuloma SNOMEDCT_US_2015_03_01:186995009 SNOMEDCT_US_2015_03_01:214600002 SNOMEDCT_US_2015_03_01:58950002 Tinea profunda (disorder) [Ambiguous] UMLS_CUI:C1279621 disease_ontology Deep seated dermatophytosis (disorder) SNOMEDCT_2005_07_31:266152000 (Deep seated dermatophytosis) or (granuloma: [trichophyticum] or [Majocchi's]) SNOMEDCT_2005_07_31:186995009 Granuloma trichophyticum MTHICD9_2006:110.6 Deep seated dermatophytosis ICD9CM_2006:110.6 Deep Seated Dermatophytosis NCI2004_11_17:C35073 SNOMEDCT_2005_07_31:58950002 Tinea profunda (disorder) [Ambiguous] A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. url:http://www.doctorfungus.org/mycoses/human/other/tineacorporis_cruris_pedis.htm Majocchi's granuloma SNOMEDCT_2005_07_31:214600002 tinea manuum A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. DOID:13369 Dermatophytosis of hand ICD10CM:B35.2 ICD9CM:110.2 SNOMEDCT_US_2015_03_01:48971001 Tinea manus (disorder) UMLS_CUI:C0153246 disease_ontology A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. url:http://en.wikipedia.org/wiki/Tinea_manuum SNOMEDCT_2005_07_31:48971001 Tinea manus (disorder) Dermatophytosis of hand ICD9CM_2006:110.2 scrub typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. Chigger-borne rickettsiosis Chigger-borne typhus DOID:13371 ICD10CM:A75.3 ICD9CM:081.2 Japanese river fever (disorder) Kedani fever (disorder) MSH:D012612 Mite-borne rickettsiosis Mite-borne typhus SNOMEDCT_US_2015_03_01:186768005 SNOMEDCT_US_2015_03_01:240620004 SNOMEDCT_US_2015_03_01:240621000 SNOMEDCT_US_2015_03_01:240622007 SNOMEDCT_US_2015_03_01:271425001 SNOMEDCT_US_2015_03_01:73911003 Scrub (mite-borne) typhus Scrub mite-borne typhus (& various types) Scrub typhus Scrub typhus (disorder) Scrub typhus (disorder) [Ambiguous] Tropical typhus Tsutsugamushi Tsutsugamushi disease (disorder) Tsutsugamushi fever Typhus fever due to Rickettsia tsutsugamushi UMLS_CUI:C0036472 disease_ontology tsutsugamushi disease ICD9CM_2006:081.2 Scrub typhus SNOMEDCT_2005_07_31:73911003 Scrub typhus (disorder) [Ambiguous] SNOMEDCT_2005_07_31:271425001 Scrub typhus (disorder) Kedani fever (disorder) SNOMEDCT_2005_07_31:240621000 CSP2005:2623-8052 tsutsugamushi disease Japanese river fever (disorder) SNOMEDCT_2005_07_31:240620004 MTHICD9_2006:081.2 Tsutsugamushi A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. url:http://en.wikipedia.org/wiki/Scrub_typhus SNOMEDCT_2005_07_31:186768005 Scrub mite-borne typhus (& various types) SNOMEDCT_2005_07_31:240622007 Tsutsugamushi disease (disorder) alpha 1-antitrypsin deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. AAT deficiency DOID:13372 ICD10CM:E88.01 ICD9CM:273.4 MSH:D019896 NCI:C84397 OMIM mapping confirmed by DO. [SN]. OMIM:613490 SNOMEDCT_US_2015_03_01:154771007 SNOMEDCT_US_2015_03_01:30188007 UMLS_CUI:C0221757 disease_ontology A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm AAT deficiency MTHICD9_2006:273.4 fibrodysplasia ossificans progressiva .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. DOID:13374 ICD10CM:M61.1 ICD10CM:M61.10 ICD9CM:728.11 MSH:D009221 NCI:C3040 OMIM mapping confirmed by DO. [SN]. OMIM:135100 SNOMEDCT_US_2015_03_01:205527009 SNOMEDCT_US_2015_03_01:240121004 SNOMEDCT_US_2015_03_01:82725007 Stone Man Syndrome UMLS_CUI:C0016037 disease_ontology myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis ICD9CM_2006:728.11 progressive myositis ossificans .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. url:http://emedicine.medscape.com/article/1112501-overview url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://omim.org/entry/135100 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ SNOMEDCT_2005_07_31:205527009 myositis ossificans progressiva CSP2005:1982-9828 progressive ossifying myositis temporal arteritis DOID:13375 Giant cell Arteritis Giant cell arteritis Giant cell arteritis (disorder) Giant cell arteritis NOS (disorder) Horton's disease ICD9CM:446.5 MSH:D013700 NCI:C35065 OMIM mapping confirmed by DO. [LS]. OMIM:187360 SNOMEDCT_US_2015_03_01:155442004 SNOMEDCT_US_2015_03_01:195354005 SNOMEDCT_US_2015_03_01:195355006 SNOMEDCT_US_2015_03_01:195356007 SNOMEDCT_US_2015_03_01:195357003 SNOMEDCT_US_2015_03_01:400130008 SNOMEDCT_US_2015_03_01:414341000 SNOMEDCT_US_2015_03_01:87511001 Temporal arteritis (disorder) UMLS_CUI:C0039483 disease_ontology giant cell arteritis SNOMEDCT_2005_07_31:400130008 Temporal arteritis (disorder) CSP2005:0617-5624 giant cell arteritis Giant cell arteritis ICD9CM_2006:446.5 Giant cell Arteritis NCI2004_11_17:C35065 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:414341000 Horton's disease MTHICD9_2006:446.5 Giant cell arteritis SNOMEDCT_2005_07_31:195356007 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:155442004 Giant cell arteritis SNOMEDCT_2005_07_31:195354005 Giant cell arteritis SNOMEDCT_2005_07_31:195355006 Giant cell arteritis NOS (disorder) SNOMEDCT_2005_07_31:195357003 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:87511001 congenital aortic insufficiency Congenital aortic valve insufficiency (disorder) Congenital aortic valve insufficiency NOS (disorder) Congenital aortic valve insufficiency, unspecified (disorder) Congenital bicuspid aortic valve insufficiency Congenital insufficiency of aortic valve Congenital insufficiency of aortic valve (disorder) DOID:13376 disease_ontology true Congenital insufficiency of aortic valve ICD9CM_2006:746.4 Congenital insufficiency of aortic valve (disorder) SNOMEDCT_2005_07_31:28656008 Congenital aortic valve insufficiency (disorder) SNOMEDCT_2005_07_31:204358001 Congenital bicuspid aortic valve insufficiency MTHICD9_2006:746.4 Congenital aortic valve insufficiency, unspecified (disorder) SNOMEDCT_2005_07_31:204359009 Congenital aortic valve insufficiency NOS (disorder) SNOMEDCT_2005_07_31:204360004 Kawasaki disease A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. DOID:13378 EFO:0004246 ICD10CM:M30.3 ICD9CM:446.1 Kawasaki's disease MLNS MSH:D009080 NCI:C34825 OMIM mapping confirmed by DO. [SN]. OMIM:611775 SNOMEDCT_US_2015_03_01:155444003 SNOMEDCT_US_2015_03_01:195348009 SNOMEDCT_US_2015_03_01:195349001 SNOMEDCT_US_2015_03_01:75053002 UMLS_CUI:C0026691 acute febrile MCLS acute febrile mucocutaneous lymph node syndrome [MCLS] disease_ontology mucocutaneous lymph node syndrome A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. url:http://en.wikipedia.org/wiki/Kawasaki_disease Kawasaki's disease SNOMEDCT_2005_07_31:195348009 MTHICD9_2006:446.1 acute febrile MCLS ICD9CM_2006:446.1 acute febrile mucocutaneous lymph node syndrome [MCLS] CSP2005:0571-6720 MLNS congenital dyserythropoietic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. DOID:1338 ICD10CM:D64.4 MSH:D000742 NCI:C84646 OMIM:105600 OMIM:224100 OMIM:224120 OMIM:613673 OMIM:615631 ORDO:85 SNOMEDCT_US_2015_03_01:191272005 SNOMEDCT_US_2015_03_01:52951008 UMLS_CUI:C0002876 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital dyshaematopoietic anaemia disease_ontology SNOMEDCT_2005_07_31:191272005 congenital dyshaematopoietic anaemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia url:http://www.ncbi.nlm.nih.gov/books/NBK5313/ acute pyelonephritis with lesion of renal medullary necrosis DOID:13380 disease_ontology true pernicious anemia ANEMIA PERNICIOUS Addison's anaemia Biermer's anemia DOID:13381 ICD10CM:D51.0 ICD9CM:281.0 MSH:D000752 NCI:C2871 OMIM mapping confirmed by DO. [SN]. OMIM:170900 SNOMEDCT_US_2015_03_01:154789008 SNOMEDCT_US_2015_03_01:191139001 SNOMEDCT_US_2015_03_01:84027009 UMLS_CUI:C0002892 disease_ontology Addison's anaemia SNOMEDCT_2005_07_31:191139001 ANEMIA PERNICIOUS MTH:NOCODE Biermer's anemia MTHICD9_2006:281.0 megaloblastic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. DOID:13382 Grasbeck-Imerslund syndrome ICD10CM:D53.1 IGS Imerslund-Grasbeck syndrome MGA1 Norwegian type MSH:D000749 NCI:C34382 OMIM:261100 OMIM:613839 RH-MGA1 SNOMEDCT_US_2015_03_01:154788000 SNOMEDCT_US_2015_03_01:154792007 SNOMEDCT_US_2015_03_01:191138009 SNOMEDCT_US_2015_03_01:191165002 SNOMEDCT_US_2015_03_01:191166001 SNOMEDCT_US_2015_03_01:234357005 SNOMEDCT_US_2015_03_01:267554004 SNOMEDCT_US_2015_03_01:53165003 UMLS_CUI:C0002888 Xref MGI. disease_ontology recessive hereditary megaloblastic anemia 1 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. url:http://en.wikipedia.org/wiki/Megaloblastic_anemia gastrointestinal anthrax An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. DOID:13386 ICD10CM:A22.2 ICD9CM:022.2 MSH:C571911 SNOMEDCT_US_2015_03_01:111798006 SNOMEDCT_US_2015_03_01:186302005 UMLS_CUI:C0152945 disease_ontology An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. url:http://emedicine.medscape.com/article/212127-overview#a0104 url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous url:http://www.springerlink.com/content/g3575hwr232l4411/ upper limb cancer DOID:13387 disease_ontology malignant neoplasm of upper limb malignant neoplasm of upper limb NOS (disorder) malignant neoplasm of upper limb, NOS malignant tumor of upper limb (disorder) true SNOMEDCT_2005_07_31:363503004 malignant tumor of upper limb (disorder) SNOMEDCT_2005_07_31:94116007 malignant neoplasm of upper limb, NOS SNOMEDCT_2005_07_31:188371009 malignant neoplasm of upper limb NOS (disorder) ICD9CM_2006:195.4 malignant neoplasm of upper limb labia majora carcinoma DOID:13389 Labia Majora cancer NCI:C9363 UMLS_CUI:C1334356 carcinoma of labia majora disease_ontology Labia Majora cancer NCI2004_11_17:C9363 Diamond-Blackfan anemia A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. Blackfan - Diamond syndrome DOID:1339 ICD10CM:D61.01 MSH:D029503 NCI:C61236 OMIM:105650 OMIM:606129 OMIM:610629 OMIM:612527 OMIM:612528 OMIM:612561 OMIM:612562 OMIM:612563 OMIM:613308 OMIM:613309 OMIM:614900 OMIM:615550 OMIM:615909 ORDO:124 SNOMEDCT_US_2015_03_01:188588001 SNOMEDCT_US_2015_03_01:191235004 SNOMEDCT_US_2015_03_01:191239005 SNOMEDCT_US_2015_03_01:234371002 SNOMEDCT_US_2015_03_01:88854002 UMLS_CUI:C1260899 Xref MGI. OMIM mapping confirmed by DO. [SN]. chronic constitutional pure red cell anaemia disease_ontology SNOMEDCT_2005_07_31:188588001 chronic constitutional pure red cell anaemia Blackfan - Diamond syndrome SNOMEDCT_2005_07_31:191239005 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. url:http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia url:http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia url:http://www.cdc.gov/ncbddd/dba/ url:http://www.omim.org/entry/105650 atypical manic disorder DOID:13397 disease_ontology true open angle with borderline glaucoma findings DOID:13398 disease_ontology true color blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. BLINDNESS COLOR Colour blindness Colour vision deficiency DOID:13399 ICD10CM:H53.5 ICD10CM:H53.50 ICD9CM:368.5 MSH:D003117 NCI:C3891 SNOMEDCT_US_2015_03_01:155143000 SNOMEDCT_US_2015_03_01:193683001 SNOMEDCT_US_2015_03_01:193685008 SNOMEDCT_US_2015_03_01:53481002 UMLS_CUI:C0242225 disease_ontology Colour vision deficiency SNOMEDCT_2005_07_31:53481002 BLINDNESS COLOR MTH:NOCODE Colour blindness SNOMEDCT_2005_07_31:155143000 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. url:http://en.wikipedia.org/wiki/Color_blindness vaginal glandular tumor DOID:134 NCI:C40250 UMLS_CUI:C1519921 disease_ontology pure red-cell aplasia DOID:1340 MSH:D012010 NCI:C34974 Pure Red cell Aplasia Pure red cell aplasia Pure red cell aplasia (disorder) Red cell hypoplasia SNOMEDCT_US_2015_03_01:191252000 SNOMEDCT_US_2015_03_01:191253005 SNOMEDCT_US_2015_03_01:50715003 UMLS_CUI:C0034902 disease_ontology primary red cell aplasia Pure red cell aplasia (disorder) SNOMEDCT_2005_07_31:50715003 Pure red cell aplasia SNOMEDCT_2005_07_31:191252000 Red cell hypoplasia SNOMEDCT_2005_07_31:191253005 MTHICD9_2006:284.0 primary red cell aplasia NCI2004_11_17:C34974 Pure Red cell Aplasia MTHICD9_2006:284.8 Pure red cell aplasia angioid streaks DOID:13401 MSH:D000793 OMIM mapping confirmed by DO. [SN]. OMIM:607140 UMLS_CUI:C0002982 disease_ontology skin sarcoidosis Cutaneous Sarcoidosis Cutaneous sarcoid Cutaneous sarcoidosis (disorder) DOID:13402 ICD10CM:D86.3 NCI:C34996 SNOMEDCT_US_2015_03_01:187234008 SNOMEDCT_US_2015_03_01:55941000 UMLS_CUI:C0036203 disease_ontology Cutaneous sarcoid SNOMEDCT_2005_07_31:187234008 Cutaneous Sarcoidosis NCI2004_11_17:C34996 Cutaneous sarcoidosis (disorder) SNOMEDCT_2005_07_31:55941000 cerebral sarcoidosis Cerebral Sarcoidosis Cerebral sarcoidosis (disorder) DOID:13403 NCI:C35441 SNOMEDCT_US_2015_03_01:111936002 UMLS_CUI:C0398676 disease_ontology Cerebral Sarcoidosis NCI2004_11_17:C35441 Cerebral sarcoidosis (disorder) SNOMEDCT_2005_07_31:111936002 uveoparotid fever DOID:13404 Heerfordt's syndrome (disorder) ICD10CM:D86.89 MSH:D014608 SNOMEDCT_US_2015_03_01:31541009 SNOMEDCT_US_2015_03_01:4416007 UMLS_CUI:C0042171 Uveoparotid fever disease_ontology SNOMEDCT_2005_07_31:31541009 Uveoparotid fever MTHICD9_2006:135 Uveoparotid fever Heerfordt's syndrome (disorder) SNOMEDCT_2005_07_31:4416007 cardiac sarcoidosis Cardiac sarcoidosis (disorder) DOID:13405 NCI:C35589 SNOMEDCT_US_2015_03_01:75403004 UMLS_CUI:C0392077 disease_ontology Cardiac sarcoidosis (disorder) SNOMEDCT_2005_07_31:75403004 pulmonary sarcoidosis DOID:13406 ICD10CM:D86.0 MSH:D017565 NCI:C34997 SNOMEDCT_US_2015_03_01:187230004 SNOMEDCT_US_2015_03_01:24369008 UMLS_CUI:C0036205 disease_ontology lung Sarcoidosis NCI2004_11_17:C34997 lung Sarcoidosis hypercalcemic sarcoidosis DOID:13407 NCI:C35807 UMLS_CUI:C1334067 disease_ontology metastasis to pleura DOID:13408 disease_ontology metastatic tumor to the Pleura secondary malignant neoplasm of pleura secondary malignant neoplasm of pleura (disorder) true NCI2004_11_17:C3579 metastatic tumor to the Pleura ICD9CM_2006:197.2 secondary malignant neoplasm of pleura SNOMEDCT_2005_07_31:94493005 secondary malignant neoplasm of pleura (disorder) perforation of bile duct DOID:13409 ICD10CM:K83.2 ICD9CM:576.3 NCI:C78528 Perforation of bile duct (disorder) SNOMEDCT_US_2015_03_01:37439003 UMLS_CUI:C0156218 disease_ontology Perforation of bile duct (disorder) SNOMEDCT_2005_07_31:37439003 congenital anemia Congenital anemia Congenital anemia (disorder) DOID:1341 disease_ontology true Congenital anemia ICD9CM_2006:776.5 Congenital anemia (disorder) SNOMEDCT_2005_07_31:63565007 hepatic encephalopathy DOID:13413 ICD10CM:K72 ICD9CM:572.2 MSH:D006501 NCI:C79596 Portal-systemic encephalopathy SNOMEDCT_US_2015_03_01:123049003 SNOMEDCT_US_2015_03_01:13920009 SNOMEDCT_US_2015_03_01:197332007 SNOMEDCT_US_2015_03_01:449902003 UMLS_CUI:C0019151 disease_ontology MTHICD9_2006:572.2 Portal-systemic encephalopathy diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder DOID:13416 Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder disease_ontology true Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder MTHICD9_2006:250.71 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder ICD9CM_2006:250.71 alexia An agnosia that is a loss of the ability to recognize text. Aphemesthaesia DOID:13417 DOID:4427 ICD9CM:315.01 MSH:D004410 MSH:D004411 SNOMEDCT_US_2015_03_01:158316004 SNOMEDCT_US_2015_03_01:206985003 SNOMEDCT_US_2015_03_01:9236007 UMLS_CUI:C0002018 UMLS_CUI:C0013388 acquired dyslexia disease_ontology Aphemesthaesia SNOMEDCT_2005_07_31:9236007 An agnosia that is a loss of the ability to recognize text. url:http://en.wikipedia.org/wiki/Agnosia url:http://en.wikipedia.org/wiki/Alexia_%28disorder%29 neurogenic bowel DOID:13419 ICD9CM:564.81 MSH:D055496 SNOMEDCT_US_2015_03_01:425671009 UMLS_CUI:C0695242 disease_ontology congenital hypoplastic anemia Constitutional aplastic anaemia DOID:1342 DOID:13639 ICD10CM:D61.0 ICD10CM:D61.01 ICD9CM:284.0 MSH:D029502 SNOMEDCT_US_2015_03_01:154808006 SNOMEDCT_US_2015_03_01:188588001 SNOMEDCT_US_2015_03_01:191235004 SNOMEDCT_US_2015_03_01:191236003 SNOMEDCT_US_2015_03_01:191242004 SNOMEDCT_US_2015_03_01:267523003 SNOMEDCT_US_2015_03_01:28975000 SNOMEDCT_US_2015_03_01:88854002 UMLS_CUI:C0702159 UMLS_CUI:C0949116 congenital aplastic anemia disease_ontology CSP2005:0427-0659 congenital aplastic anemia Constitutional aplastic anaemia SNOMEDCT_2005_07_31:154808006 urethritis DOID:1343 DOID:2863 ICD10CM:N34.2 ICD9CM:597.80 MSH:D014526 NCI:C26904 Non-Gonococcal Urethritis Nongonococcal urethritis (disorder) SNOMEDCT_US_2015_03_01:154388003 SNOMEDCT_US_2015_03_01:197905005 SNOMEDCT_US_2015_03_01:31822004 UMLS_CUI:C0041976 UMLS_CUI:C0311389 disease_ontology Nongonococcal urethritis (disorder) SNOMEDCT_2005_07_31:84619001 NCI2004_11_17:C27079 Non-Gonococcal Urethritis bejel A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. Bejel (disorder) DOID:13431 MSH:D014211 Njovera Njovera (disorder) Non-venereal endemic syphilis (disorder) Non-venereal endemic syphilis (disorder) [Ambiguous] Nonvenereal endemic syphilis Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) SNOMEDCT_US_2015_03_01:186978001 SNOMEDCT_US_2015_03_01:240686008 UMLS_CUI:C0004945 disease_ontology A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. url:http://en.wikipedia.org/wiki/Bejel url:http://www.merckmanuals.com/home/sec17/ch190/ch190d.html Njovera (disorder) SNOMEDCT_2005_07_31:240688009 MTHICD9_2006:104.0 Njovera Non-venereal endemic syphilis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:49487001 Non-venereal endemic syphilis (disorder) SNOMEDCT_2005_07_31:271426000 Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) SNOMEDCT_2005_07_31:186978001 ICD9CM_2006:104.0 Nonvenereal endemic syphilis Bejel (disorder) SNOMEDCT_2005_07_31:240686008 glanders A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. DOID:13444 Farcy pipes ICD10CM:A24.0 ICD9CM:024 Infection due to Pseudomonas mallei MSH:D005896 NCI:C34638 SNOMEDCT_US_2015_03_01:35322000 SNOMEDCT_US_2015_03_01:4639008 UMLS_CUI:C0017589 disease_ontology glanders (disorder) A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ Infection due to Pseudomonas mallei MTHICD9_2006:024 SNOMEDCT_2005_07_31:4639008 glanders (disorder) Farcy pipes SNOMEDCT_2005_07_31:35322000 basilar artery occlusion DOID:13446 ICD10CM:I65.1 ICD9CM:433.0 SNOMEDCT_US_2015_03_01:155396001 SNOMEDCT_US_2015_03_01:195180004 SNOMEDCT_US_2015_03_01:78658006 UMLS_CUI:C0265098 disease_ontology corneal argyrosis Argentous corneal deposits Argyrosis of cornea (disorder) DOID:13447 ICD10CM:H18.02 ICD9CM:371.16 SNOMEDCT_US_2015_03_01:193809002 SNOMEDCT_US_2015_03_01:21328003 UMLS_CUI:C0155108 disease_ontology Argyrosis of cornea (disorder) SNOMEDCT_2005_07_31:193809002 Argentous corneal deposits ICD9CM_2006:371.16 posterior corneal pigmentation DOID:13448 ICD10CM:H18.05 ICD9CM:371.13 Posterior corneal pigmentation (disorder) Posterior corneal pigmentations SNOMEDCT_US_2015_03_01:11293004 SNOMEDCT_US_2015_03_01:193807000 SNOMEDCT_US_2015_03_01:267639001 UMLS_CUI:C0155106 disease_ontology Posterior corneal pigmentation (disorder) SNOMEDCT_2005_07_31:267639001 ICD9CM_2006:371.13 Posterior corneal pigmentations Posterior corneal pigmentation (disorder) SNOMEDCT_2005_07_31:11293004 coccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. DOID:13450 DOID:13981 ICD10CM:B38 ICD10CM:B38.9 ICD9CM:114 ICD9CM:114.9 MSH:D003047 NCI:C84642 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:187025009 SNOMEDCT_US_2015_03_01:187035003 SNOMEDCT_US_2015_03_01:187481007 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:442543009 SNOMEDCT_US_2015_03_01:60826002 UMLS_CUI:C0009186 disease_ontology primary extrapulmonary coccidioidomycosis primary extrapulmonary coccidioidomycosis (disorder) SNOMEDCT_2005_07_31:23247008 primary extrapulmonary coccidioidomycosis (disorder) A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html scleritis DOID:13452 ICD10CM:H15.0 ICD10CM:H15.00 ICD9CM:379.00 MSH:D015423 SNOMEDCT_US_2015_03_01:155201000 SNOMEDCT_US_2015_03_01:194139000 SNOMEDCT_US_2015_03_01:194140003 SNOMEDCT_US_2015_03_01:78370002 Scleritis (disorder) Scleritis, unspecified UMLS_CUI:C0036416 Unspecified scleritis (disorder) disease_ontology SNOMEDCT_2005_07_31:194140003 Unspecified scleritis (disorder) ICD9CM_2006:379.00 Scleritis, unspecified SNOMEDCT_2005_07_31:78370002 Scleritis (disorder) gonococcal bursitis DOID:13453 Gonococcal bursitis (disorder) ICD10CM:A54.49 ICD9CM:098.52 SNOMEDCT_US_2015_03_01:186928003 SNOMEDCT_US_2015_03_01:46699001 UMLS_CUI:C0153218 disease_ontology Gonococcal bursitis (disorder) SNOMEDCT_2005_07_31:46699001 gonococcal synovitis DOID:13454 Gonococcal synovitis &/or tenosynovitis Gonococcal synovitis and tenosynovitis Gonococcal synovitis or tenosynovitis (disorder) ICD9CM:098.51 SNOMEDCT_US_2015_03_01:186927008 SNOMEDCT_US_2015_03_01:266138002 UMLS_CUI:C0343714 disease_ontology Gonococcal synovitis &/or tenosynovitis SNOMEDCT_2005_07_31:186927008 Gonococcal synovitis or tenosynovitis (disorder) SNOMEDCT_2005_07_31:266138002 Gonococcal synovitis and tenosynovitis ICD9CM_2006:098.51 secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. DOID:13458 DOID:13459 Hepatitis in secondary syphilis (disorder) Syphilis of liver (disorder) disease_ontology secondary syphilis of liver secondary syphilis of liver (disorder) secondary syphilitic hepatitis true SNOMEDCT_2005_07_31:80770009 secondary syphilis of liver (disorder) Hepatitis in secondary syphilis (disorder) SNOMEDCT_2005_07_31:197348008 ICD9CM_2006:091.62 secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh SNOMEDCT_2005_07_31:86028001 Syphilis of liver (disorder) urethral intrinsic sphincter deficiency DOID:13461 ICD10CM:N36.42 ICD9CM:599.82 Intrinsic (urethral) sphincter deficiency [ISD] Intrinsic sphincter deficiency SNOMEDCT_US_2015_03_01:16031000119101 UMLS_CUI:C0375381 disease_ontology ICD9CM_2006:599.82 Intrinsic (urethral) sphincter deficiency [ISD] Intrinsic sphincter deficiency MTHICD9_2006:599.82 primary genital syphilis DOID:13468 Genital syphilis Genital syphilis (primary) disease_ontology primary genital syphilis (disorder) primary genital syphilis (disorder) [Ambiguous] true SNOMEDCT_2005_07_31:58433006 primary genital syphilis (disorder) [Ambiguous] Genital syphilis MTHICD9_2006:091.0 Genital syphilis (primary) ICD9CM_2006:091.0 SNOMEDCT_2005_07_31:186847001 primary genital syphilis (disorder) secondary cutaneous syphilis DOID:13469 disease_ontology secondary syphilis of skin and mucous membrane (disorder) secondary syphilis of skin or mucous membranes secondary syphilis of skin or mucus membranes NOS (disorder) true SNOMEDCT_2005_07_31:186850003 secondary syphilis of skin and mucous membrane (disorder) ICD9CM_2006:091.3 secondary syphilis of skin or mucous membranes SNOMEDCT_2005_07_31:186852006 secondary syphilis of skin or mucus membranes NOS (disorder) primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. DOID:13470 disease_ontology primary anal syphilis (disorder) true A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. url:http://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh SNOMEDCT_2005_07_31:31015008 primary anal syphilis (disorder) secondary syphilitic lymphadenitis Adenopathy due to secondary syphilis DOID:13471 disease_ontology secondary syphilitic adenopathy (disorder) secondary syphilitic lymphadenitis true MTHICD9_2006:091.4 secondary syphilitic lymphadenitis Adenopathy due to secondary syphilis ICD9CM_2006:091.4 SNOMEDCT_2005_07_31:59934002 secondary syphilitic adenopathy (disorder) central pterygium DOID:13473 ICD9CM:372.43 SNOMEDCT_US_2015_03_01:193882008 SNOMEDCT_US_2015_03_01:43300008 UMLS_CUI:C0155156 central pterygium (disorder) disease_ontology SNOMEDCT_2005_07_31:43300008 central pterygium (disorder) progressive peripheral pterygium DOID:13474 ICD9CM:372.42 SNOMEDCT_US_2015_03_01:193881001 SNOMEDCT_US_2015_03_01:48480005 UMLS_CUI:C0155155 disease_ontology peripheral pterygium, progressive (disorder) progressive peripheral pterygium (disorder) SNOMEDCT_2005_07_31:193881001 peripheral pterygium, progressive (disorder) SNOMEDCT_2005_07_31:48480005 progressive peripheral pterygium (disorder) supraglottis cancer Ca larynx - supraglottis Ca larynx - supraglottis (disorder) DOID:13476 ICD10CM:C32.1 ICD9CM:161.1 NCI:C3545 SNOMEDCT_US_2015_03_01:154482003 SNOMEDCT_US_2015_03_01:187842004 SNOMEDCT_US_2015_03_01:269558005 SNOMEDCT_US_2015_03_01:94080006 UMLS_CUI:C0153484 disease_ontology malignant Supraglottic tumor malignant neoplasm of extrinsic larynx malignant neoplasm of supraglottis malignant tumor of supraglottis (disorder) supraglottis SNOMEDCT_2005_07_31:94080006 malignant neoplasm of supraglottis Ca larynx - supraglottis SNOMEDCT_2005_07_31:154482003 SNOMEDCT_2005_07_31:187842004 malignant tumor of supraglottis (disorder) NCI2004_11_17:C3545 malignant Supraglottic tumor NCI2004_11_17:C12279 supraglottis Ca larynx - supraglottis (disorder) SNOMEDCT_2005_07_31:269558005 MTHICD9_2006:161.1 malignant neoplasm of extrinsic larynx ICD9CM_2006:161.1 malignant neoplasm of supraglottis balanitis xerotica obliterans Balanitis xerotica obliterans (disorder) DOID:13477 ICD9CM:607.81 Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) [Ambiguous] NCI:C3523 Penile Lichen Sclerosus SNOMEDCT_US_2015_03_01:198028006 SNOMEDCT_US_2015_03_01:198033005 SNOMEDCT_US_2015_03_01:367113004 SNOMEDCT_US_2015_03_01:43790000 SNOMEDCT_US_2015_03_01:700082001 UMLS_CUI:C0152460 disease_ontology Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) [Ambiguous] SNOMEDCT_2005_07_31:43790000 Balanitis xerotica obliterans (disorder) SNOMEDCT_2005_07_31:198033005 NCI2004_11_17:C3523 Penile Lichen Sclerosus paranoid type schizophrenia chronic state with acute exacerbation DOID:13480 disease_ontology true thanatophoric dysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. DOID:13481 ICD10CM:Q77.1 MSH:D013796 NCI:C85187 OMIM:187600 OMIM:187601 OMIM:273680 ORDO:1860 ORDO:2655 ORDO:93274 ORDO:93275 SNOMEDCT_US_2015_03_01:29352008 UMLS_CUI:C0039743 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. url:http://emedicine.medscape.com/article/949591-overview url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia Proteus syndrome DOID:13482 MSH:D016715 NCI:C85032 OMIM mapping confirmed by DO. [SN]. OMIM:176920 SNOMEDCT_US_2015_03_01:23150001 SNOMEDCT_US_2015_03_01:394527003 UMLS_CUI:C0085261 Wiedemann's syndrome disease_ontology disorganized type schizophrenia chronic state DOID:13484 disease_ontology true childhood disintegrative disease A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. DOID:13487 Disintegrative psychosis NOS (disorder) Heller's syndrome ICD10CM:F84.3 ICD9CM:299.1 NCI:C97164 SNOMEDCT_US_2015_03_01:191694008 SNOMEDCT_US_2015_03_01:192584009 SNOMEDCT_US_2015_03_01:71961003 Symbiotic psychosis UMLS_CUI:C0236791 disease_ontology Disintegrative psychosis NOS (disorder) SNOMEDCT_2005_07_31:191694008 A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. url:http://en.wikipedia.org/wiki/Heller%27s_syndrome url:http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm SNOMEDCT_2005_07_31:192584009 Symbiotic psychosis active cochleovestibular Meniere's disease Cochleovestibular active Mnire's disease (disorder) DOID:13490 ICD9CM:386.01 SNOMEDCT_US_2015_03_01:194348002 SNOMEDCT_US_2015_03_01:8535002 UMLS_CUI:C0155496 active Meniere's disease, cochleovestibular active cochleovestibular Meniere disease disease_ontology Cochleovestibular active Mnire's disease (disorder) SNOMEDCT_2005_07_31:8535002 ICD9CM_2006:386.01 active Meniere's disease, cochleovestibular active vestibular Meniere's disease DOID:13491 ICD9CM:386.03 SNOMEDCT_US_2015_03_01:194350005 SNOMEDCT_US_2015_03_01:51003001 UMLS_CUI:C0155498 Vestibular active Mnire's disease (disorder) active Meniere's disease, vestibular active vestibular Meniere disease disease_ontology SNOMEDCT_2005_07_31:51003001 Vestibular active Mnire's disease (disorder) ICD9CM_2006:386.03 active Meniere's disease, vestibular active cochlear Meniere's disease Cochlear active Mnire's disease (disorder) DOID:13492 ICD9CM:386.02 SNOMEDCT_US_2015_03_01:194349005 SNOMEDCT_US_2015_03_01:21653008 UMLS_CUI:C0155497 active Meniere's disease, cochlear active cochlear Meniere disease disease_ontology ICD9CM_2006:386.02 active Meniere's disease, cochlear Cochlear active Mnire's disease (disorder) SNOMEDCT_2005_07_31:21653008 urethral syndrome DOID:13498 ICD10CM:N34.3 ICD9CM:597.81 SNOMEDCT_US_2015_03_01:155893003 SNOMEDCT_US_2015_03_01:197906006 SNOMEDCT_US_2015_03_01:266633007 SNOMEDCT_US_2015_03_01:31273004 UMLS_CUI:C0156279 disease_ontology urethral syndrome (disorder) urethral syndrome NOS urethral syndrome NOS (disorder) ICD9CM_2006:597.81 urethral syndrome NOS SNOMEDCT_2005_07_31:197906006 urethral syndrome NOS (disorder) SNOMEDCT_2005_07_31:31273004 urethral syndrome (disorder) SNOMEDCT_2005_07_31:155893003 urethral syndrome NOS SNOMEDCT_2005_07_31:266633007 urethral syndrome NOS jejunal cancer DOID:13499 ICD10CM:C17.1 ICD9CM:152.1 MSH:D007580 SNOMEDCT_US_2015_03_01:363404008 SNOMEDCT_US_2015_03_01:93846004 UMLS_CUI:C0153427 disease_ontology malignant neoplasm of jejunum malignant tumor of jejunum (disorder) ICD9CM_2006:152.1 malignant neoplasm of jejunum SNOMEDCT_2005_07_31:93846004 malignant neoplasm of jejunum MTH:U001249 malignant neoplasm of jejunum SNOMEDCT_2005_07_31:363404008 malignant tumor of jejunum (disorder) benign vaginal carcinosarcoma DOID:135 NCI:C40275 UMLS_CUI:C1511106 disease_ontology paranasal sinus neoplasm DOID:1350 MSH:D010255 NCI:C7488 SNOMEDCT_US_2015_03_01:126675008 UMLS_CUI:C0030470 disease_ontology neoplasm of accessory sinus tumor of Accessory sinus SNOMEDCT_2005_07_31:126675008 neoplasm of accessory sinus NCI2004_11_17:C7488 tumor of Accessory sinus hairy tongue DOID:13500 Hairy Tongue MSH:D014064 NCI:C35075 Overgrowth of filiform papillae (disorder) SNOMEDCT_US_2015_03_01:255225007 SNOMEDCT_US_2015_03_01:81934005 UMLS_CUI:C0040414 disease_ontology Overgrowth of filiform papillae (disorder) SNOMEDCT_2005_07_31:255225007 Hairy Tongue NCI2004_11_17:C35075 Mobius syndrome DOID:13501 ICD10CM:Q87.0 MSH:D020331 Moebius congenital oculofacial paralysis NCI:C84893 OMIM mapping confirmed by DO. [SN]. OMIM:157900 Oromandibular-limb hypogenesis spectrum (disorder) SNOMEDCT_US_2015_03_01:393607001 SNOMEDCT_US_2015_03_01:89444000 UMLS_CUI:C0221060 disease_ontology Moebius congenital oculofacial paralysis SNOMEDCT_2005_07_31:393607001 Oromandibular-limb hypogenesis spectrum (disorder) SNOMEDCT_2005_07_31:89444000 trigonitis DOID:13507 ICD10CM:N30.3 ICD9CM:595.3 SNOMEDCT_US_2015_03_01:155885003 SNOMEDCT_US_2015_03_01:197843007 SNOMEDCT_US_2015_03_01:197844001 SNOMEDCT_US_2015_03_01:266562000 SNOMEDCT_US_2015_03_01:266629000 SNOMEDCT_US_2015_03_01:74445007 Trigonitis (disorder) Trigonitis NOS (disorder) Trigonitis [Ambiguous] UMLS_CUI:C1261278 disease_ontology SNOMEDCT_2005_07_31:74445007 Trigonitis (disorder) SNOMEDCT_2005_07_31:266562000 Trigonitis [Ambiguous] SNOMEDCT_2005_07_31:197844001 Trigonitis NOS (disorder) venous tributary occlusion of retina DOID:13514 ICD9CM:362.36 UMLS_CUI:C0154842 Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina disease_ontology MTHICD9_2006:362.36 Venous tributary branch occlusion of retina ICD9CM_2006:362.36 Venous tributary (branch) occlusion of retina tuberous sclerosis Bourneville's disease DOID:13515 Epiloia ICD10CM:Q85.1 ICD9CM:759.5 MSH:D014402 NCI:C3424 OMIM mapping confirmed by DO. [LS]. OMIM:191100 OMIM:613254 SNOMEDCT_US_2015_03_01:157027006 SNOMEDCT_US_2015_03_01:157033002 SNOMEDCT_US_2015_03_01:268359006 SNOMEDCT_US_2015_03_01:7199000 Tuberose sclerosis Tuberous sclerosis Tuberous sclerosis syndrome (disorder) UMLS_CUI:C0041341 cerebral sclerosis disease_ontology SNOMEDCT_2005_07_31:7199000 Tuberous sclerosis syndrome (disorder) Epiloia MTHICD9_2006:759.5 SNOMEDCT_2005_07_31:157027006 Tuberous sclerosis SNOMEDCT_2005_07_31:268359006 Tuberose sclerosis ICD9CM_2006:759.5 Tuberous sclerosis SNOMEDCT_2005_07_31:157033002 Tuberose sclerosis CSP2005:0727-2535 cerebral sclerosis Bourneville's disease NCI2004_11_17:C3424 stiffness of joint DOID:13518 DOID:13885 DOID:14206 DOID:14207 DOID:14208 DOID:14209 DOID:14211 DOID:14212 Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006 Stiffness of joint, NEC, involving forearm in ICD9CM_2005 Stiffness of joint, NEC, involving forearm in ICD9CM_2006 Stiffness of joint, NEC, involving hand in ICD9CM_2005 Stiffness of joint, NEC, involving hand in ICD9CM_2006 Stiffness of joint, NEC, involving lower leg in ICD9CM_2005 Stiffness of joint, NEC, involving lower leg in ICD9CM_2006 Stiffness of joint, NEC, involving multiple sites in ICD9CM_2005 Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006 Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2005 Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006 Stiffness of joint, NEC, involving shoulder region in ICD9CM_2005 Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006 Stiffness of joint, NEC, involving upper arm in ICD9CM_2005 Stiffness of joint, NEC, involving upper arm in ICD9CM_2006 Stiffness of joint, not elsewhere classified, involving ankle and foot Stiffness of joint, not elsewhere classified, involving forearm Stiffness of joint, not elsewhere classified, involving hand Stiffness of joint, not elsewhere classified, involving lower leg Stiffness of joint, not elsewhere classified, involving multiple sites Stiffness of joint, not elsewhere classified, involving pelvic region and thigh Stiffness of joint, not elsewhere classified, involving shoulder region Stiffness of joint, not elsewhere classified, involving upper arm disease_ontology true MTH:NOCODE Stiffness of joint, NEC, involving lower leg in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006 ICD9CM_2006:719.53 Stiffness of joint, not elsewhere classified, involving forearm ICD9CM_2006:719.59 Stiffness of joint, not elsewhere classified, involving multiple sites ICD9CM_2006:719.54 Stiffness of joint, not elsewhere classified, involving hand MTH:NOCODE Stiffness of joint, NEC, involving hand in ICD9CM_2006 ICD9CM_2006:719.52 Stiffness of joint, not elsewhere classified, involving upper arm ICD9CM_2006:719.51 Stiffness of joint, not elsewhere classified, involving shoulder region ICD9CM_2006:719.55 Stiffness of joint, not elsewhere classified, involving pelvic region and thigh MTH:NOCODE Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006 ICD9CM_2006:719.57 Stiffness of joint, not elsewhere classified, involving ankle and foot ICD9CM_2006:719.56 Stiffness of joint, not elsewhere classified, involving lower leg MTH:NOCODE Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving forearm in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving upper arm in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006 paranasal sinus disease DOID:1352 MSH:D010254 NCI:C26843 SNOMEDCT_US_2015_03_01:195823002 SNOMEDCT_US_2015_03_01:7393007 UMLS_CUI:C0030469 disease_ontology disorder of nasal sinus paranasal sinus disorder SNOMEDCT_2005_07_31:7393007 disorder of nasal sinus NCI2004_11_17:C26843 paranasal sinus disorder neonatal infective mastitis DOID:13520 ICD10CM:P39.0 ICD9CM:771.5 Neonatal infective mastitis (disorder) SNOMEDCT_US_2015_03_01:3468005 UMLS_CUI:C0158948 disease_ontology Neonatal infective mastitis (disorder) SNOMEDCT_2005_07_31:3468005 tetanus neonatorum A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. DOID:13521 ICD10CM:A33 ICD9CM:771.3 SNOMEDCT_US_2015_03_01:206338004 SNOMEDCT_US_2015_03_01:206339007 SNOMEDCT_US_2015_03_01:43424001 Tetanus neonatorum (disorder) UMLS_CUI:C0343312 disease_ontology neonatal tetanus SNOMEDCT_2005_07_31:43424001 Tetanus neonatorum (disorder) A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. url:http://www.doh.gov.za/programmes/polio/nnt.pdf loiasis A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. DOID:13523 ICD10CM:B74.3 ICD9CM:125.2 MSH:D008118 NCI:C34784 SNOMEDCT_US_2015_03_01:44250009 UMLS_CUI:C0023968 disease_ontology A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. url:http://en.wikipedia.org/wiki/Loiasis candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. Candidal endocarditis (disorder) DOID:13526 disease_ontology true Candidal endocarditis (disorder) SNOMEDCT_2005_07_31:63553008 A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. Candidal otitis externa (disorder) Candidal: [otitis externa] or [otomycosis] DOID:13527 disease_ontology otomycosis in moniliasis true Candidal: [otitis externa] or [otomycosis] SNOMEDCT_2005_07_31:187021000 A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. url:http://en.wikipedia.org/wiki/Moniliasis url:http://en.wikipedia.org/wiki/Otomycosis url:http://www.aafp.org/afp/2001/0301/p927.html url:http://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641 Candidal otitis externa (disorder) SNOMEDCT_2005_07_31:16681000 candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. DOID:13528 disease_ontology gastrointestinal candidiasis (disorder) intestinal moniliasis true SNOMEDCT_2005_07_31:187023002 intestinal moniliasis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. url:http://emedicine.medscape.com/article/213853-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html SNOMEDCT_2005_07_31:84679006 gastrointestinal candidiasis (disorder) osteopetrosis Albers-Schonberg disease An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. DOID:13533 ICD10CM:Q78.2 ICD9CM:756.52 MSH:D010022 NCI:C26840 OMIM:166600 OMIM:259700 OMIM:259710 OMIM:259720 OMIM:259730 OMIM:607634 OMIM:611490 OMIM:611497 OMIM:612301 OMIM:615085 ORDO:667 SNOMEDCT_US_2015_03_01:1926006 SNOMEDCT_US_2015_03_01:205500005 SNOMEDCT_US_2015_03_01:205502002 SNOMEDCT_US_2015_03_01:360504006 SNOMEDCT_US_2015_03_01:367489004 SNOMEDCT_US_2015_03_01:63941000 UMLS_CUI:C0029454 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. disease_ontology marble bone CSP2005:1849-7232 marble bone An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. url:http://emedicine.medscape.com/article/123968-overview url:http://en.wikipedia.org/wiki/Osteopetrosis purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. DOID:13534 ICD9CM:386.33 SNOMEDCT_US_2015_03_01:24817009 Suppurative labyrinthitis Suppurative labyrinthitis (disorder) UMLS_CUI:C0155506 acute suppurative labyrinthitis bacterial labyrinthitis disease_ontology A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. url:http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh SNOMEDCT_2005_07_31:24817009 Suppurative labyrinthitis (disorder) ICD9CM_2006:386.33 Suppurative labyrinthitis intrapelvic lymph node mast cell malignancy DOID:13535 Mast cell malignancy of intrapelvic lymph nodes (disorder) disease_ontology malignant mast cell tumors involving intrapelvic lymph nodes true ICD9CM_2006:202.66 malignant mast cell tumors involving intrapelvic lymph nodes Mast cell malignancy of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188667001 cornea squamous cell carcinoma Corneal Epidermoid carcinoma DOID:13538 NCI:C4552 SNOMEDCT_US_2015_03_01:255008003 UMLS_CUI:C0346366 disease_ontology squamous cell carcinoma of cornea squamous cell carcinoma of cornea (disorder) SNOMEDCT_2005_07_31:255008003 squamous cell carcinoma of cornea (disorder) Corneal Epidermoid carcinoma NCI2004_11_17:C4552 hyperparathyroidism A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. DOID:13543 ICD10CM:E21.3 ICD9CM:252.0 ICD9CM:252.00 MSH:D006961 NCI:C48259 OMIM:145000 OMIM:145001 OMIM:610071 ORDO:99879 SNOMEDCT_US_2015_03_01:154696001 SNOMEDCT_US_2015_03_01:190451000 SNOMEDCT_US_2015_03_01:66999008 UMLS_CUI:C0020502 Xref MGI. disease_ontology A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. url:http://en.wikipedia.org/wiki/Hyperparathyroidism url:http://ghr.nlm.nih.gov/glossary=hyperparathyroidism low tension glaucoma DOID:13544 ICD10CM:H40.12 ICD9CM:365.12 MSH:D057066 Normal tension glaucoma SNOMEDCT_US_2015_03_01:155124000 SNOMEDCT_US_2015_03_01:193567005 SNOMEDCT_US_2015_03_01:50485007 UMLS_CUI:C0152136 disease_ontology Normal tension glaucoma SNOMEDCT_2005_07_31:50485007 secondary Parkinson disease DOID:13548 ICD10CM:G21 ICD10CM:G21.9 ICD9CM:332.1 MSH:D010302 NCI:C34899 SNOMEDCT_US_2015_03_01:192830002 SNOMEDCT_US_2015_03_01:194477000 SNOMEDCT_US_2015_03_01:230292008 SNOMEDCT_US_2015_03_01:265377002 SNOMEDCT_US_2015_03_01:32798002 SNOMEDCT_US_2015_03_01:50364008 Symptomatic parkinsonism (disorder) UMLS_CUI:C0030569 disease_ontology disorder presenting primarily with parkinsonism secondary Parkinsonism secondary parkinsonism (disorder) secondary parkinsonism (disorder) [Ambiguous] secondary parkinsonism, unspecified secondary parkinsonism, unspecified (disorder) SNOMEDCT_2005_07_31:192830002 secondary parkinsonism, unspecified SNOMEDCT_2005_07_31:50364008 secondary parkinsonism (disorder) [Ambiguous] SNOMEDCT_2005_07_31:265377002 Symptomatic parkinsonism (disorder) SNOMEDCT_2005_07_31:230292008 secondary parkinsonism (disorder) ICD9CM_2006:332.1 secondary Parkinsonism SNOMEDCT_2005_07_31:32798002 disorder presenting primarily with parkinsonism SNOMEDCT_2005_07_31:194477000 secondary parkinsonism, unspecified (disorder) NCI2004_11_17:C34899 secondary Parkinsonism interval angle-closure glaucoma Angle-closure glaucoma, subacute DOID:13549 ICD10CM:H40.23 ICD9CM:365.21 Intermittent angle-closure glaucoma Prodromal angle closure glaucoma SNOMEDCT_US_2015_03_01:65460003 UMLS_CUI:C0154945 disease_ontology Prodromal angle closure glaucoma SNOMEDCT_2005_07_31:65460003 ICD9CM_2006:365.21 Intermittent angle-closure glaucoma Angle-closure glaucoma, subacute MTHICD9_2006:365.21 paranasal sinus lymphoma DOID:1355 Lymphoma of Accessory sinus NCI:C6068 UMLS_CUI:C1335339 disease_ontology lymphoma of paranasal sinus Lymphoma of Accessory sinus NCI2004_11_17:C6068 angle-closure glaucoma ACG - Angle-closure glaucoma Angle Closure Glaucoma Angle-closure glaucoma (disorder) Closed angle glaucoma DOID:13550 MSH:D015812 NCI:C34639 Narrow cleft glaucoma SNOMEDCT_US_2015_03_01:193544008 SNOMEDCT_US_2015_03_01:270882001 SNOMEDCT_US_2015_03_01:33647009 SNOMEDCT_US_2015_03_01:392291006 UMLS_CUI:C0017605 disease_ontology primary open-angle glaucoma with narrow angles Angle Closure Glaucoma NCI2004_11_17:C34639 ACG - Angle-closure glaucoma SNOMEDCT_2005_07_31:270882001 Angle Closure Glaucoma MTH:NOCODE Angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:392291006 Closed angle glaucoma SNOMEDCT_2005_07_31:193544008 Narrow cleft glaucoma SNOMEDCT_2005_07_31:33647009 SNOMEDCT_2005_07_31:314542007 primary open-angle glaucoma with narrow angles gonococcal peritonitis DOID:13554 disease_ontology true pharyngeal gonorrhea DOID:13555 Gonococcal infection of pharynx Gonorrhea of pharynx (disorder) disease_ontology gonococcal pharyngitis true Gonorrhea of pharynx (disorder) SNOMEDCT_2005_07_31:74372003 Gonococcal infection of pharynx ICD9CM_2006:098.6 gonococcal keratosis DOID:13556 Gonococcal blennorrhagica Gonococcal keratosis (blennorrhagica) Gonococcal keratosis (disorder) disease_ontology true Gonococcal keratosis (blennorrhagica) ICD9CM_2006:098.81 Gonococcal keratosis (disorder) SNOMEDCT_2005_07_31:60335002 Gonococcal blennorrhagica MTHICD9_2006:098.81 gonococcal urethritis DOID:13558 Gonococcal Urethritis Gonococcal urethritis (disorder) disease_ontology true Gonococcal Urethritis NCI2004_11_17:C26787 Gonococcal urethritis (disorder) SNOMEDCT_2005_07_31:236682002 lymphoma by site DOID:1356 disease_ontology true subserous uterine fibroid DOID:13560 ICD10CM:D25.2 ICD9CM:218.2 SNOMEDCT_US_2015_03_01:95280005 Subserous leiomyoma of uterus Subserous leiomyoma of uterus (disorder) UMLS_CUI:C0153995 disease_ontology ICD9CM_2006:218.2 Subserous leiomyoma of uterus SNOMEDCT_2005_07_31:95280005 Subserous leiomyoma of uterus (disorder) optic disk drusen DOID:13561 Drusen of optic disc ICD10CM:H47.32 ICD9CM:377.21 MSH:D015594 SNOMEDCT_US_2015_03_01:33629003 UMLS_CUI:C0029128 disease_ontology optic nerve head drusen Drusen of optic disc ICD9CM_2006:377.21 SNOMEDCT_2005_07_31:33629003 optic nerve head drusen glaucoma associated with pupillary block DOID:13562 Glaucoma associated with pupillary block (disorder) disease_ontology secondary angle-closure glaucoma with pupil block true Glaucoma associated with pupillary block (disorder) SNOMEDCT_2005_07_31:43445008 SNOMEDCT_2005_07_31:193561006 secondary angle-closure glaucoma with pupil block aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. CSP:1988-4002 DOID:13564 ICD10CM:B44 ICD10CM:B44.9 ICD9CM:117.3 Infection due to Aspergillus MSH:D001228 NCI:C2886 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:187087004 SNOMEDCT_US_2015_03_01:187492008 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:65553006 UMLS_CUI:C0004030 disease_ontology An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/ url:http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all Infection due to Aspergillus SNOMEDCT_2005_07_31:65553006 neuroaspergillosis An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. DOID:13565 MSH:D020953 UMLS_CUI:C0752342 disease_ontology An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. url:http://www.ncbi.nlm.nih.gov/pubmed/17377359 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis tibial collateral ligament bursitis DOID:13566 ICD9CM:726.62 SNOMEDCT_US_2015_03_01:202869006 SNOMEDCT_US_2015_03_01:44245003 Tibial collateral ligament bursitis (disorder) UMLS_CUI:C0158315 disease_ontology SNOMEDCT_2005_07_31:44245003 Tibial collateral ligament bursitis (disorder) maxillary sinus cancer DOID:1357 DOID:2372 ICD10CM:C31.0 ICD9CM:160.2 NCI:C3540 NCI:C9332 SNOMEDCT_US_2015_03_01:363425008 SNOMEDCT_US_2015_03_01:93889000 UMLS_CUI:C0153476 UMLS_CUI:C0740487 disease_ontology malignant neoplasm of antrum malignant tumor of the maxillary sinus MTHICD9_2006:160.2 malignant neoplasm of antrum NCI2004_11_17:C3540 malignant tumor of the maxillary sinus schizo-affective type schizophrenia chronic state with acute exacerbation DOID:13573 disease_ontology true cortical senile cataract Cortical senile cataract (disorder) DOID:13574 ICD9CM:366.15 SNOMEDCT_US_2015_03_01:193588001 SNOMEDCT_US_2015_03_01:78875003 UMLS_CUI:C0154980 disease_ontology Cortical senile cataract (disorder) SNOMEDCT_2005_07_31:78875003 non-renal secondary hyperparathyroidism DOID:13575 ICD9CM:252.02 UMLS_CUI:C1456268 disease_ontology twin-to-twin transfusion syndrome DOID:13576 Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin (disorder) ICD10CM:O43.02 ICD10CM:O43.029 MSH:D005330 NCI:C113824 SNOMEDCT_US_2015_03_01:13404009 SNOMEDCT_US_2015_03_01:237299001 Twin to twin transfusion Twin-to-twin blood transfer (disorder) UMLS_CUI:C2909036 disease_ontology Fetal blood loss from fetal hemorrhage into co-twin MTHICD9_2006:772.0 SNOMEDCT_2005_07_31:13404009 Twin-to-twin blood transfer (disorder) SNOMEDCT_2005_07_31:237299001 Twin to twin transfusion Fetal hemorrhage into co-twin (disorder) SNOMEDCT_2005_07_31:56268004 ascorbic acid deficiency Ascorbic acid (vitamin C) deficiency Ascorbic acid defic. Ascorbic acid deficiency Ascorbic acid deficiency (disorder) DOID:13577 deficiency of ascorbic acid (disorder) deficiency of vitamin C disease_ontology true vitamin C deficiency Ascorbic acid deficiency ICD9CM_2006:267 SNOMEDCT_2005_07_31:124907004 deficiency of ascorbic acid (disorder) MTHICD9_2006:267 deficiency of vitamin C Ascorbic acid defic. SNOMEDCT_2005_07_31:154727008 CSP2005:2116-7533 vitamin C deficiency Ascorbic acid deficiency (disorder) SNOMEDCT_2005_07_31:76169001 Ascorbic acid defic. SNOMEDCT_2005_07_31:267493006 Ascorbic acid (vitamin C) deficiency SNOMEDCT_2005_07_31:190638001 kwashiorkor DOID:13579 ICD10CM:E40 ICD9CM:260 Kwashiokor MSH:D007732 Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair SNOMEDCT_US_2015_03_01:154730001 SNOMEDCT_US_2015_03_01:267495004 SNOMEDCT_US_2015_03_01:58262005 UMLS_CUI:C0022806 disease_ontology Nutritional oedema with dyspigmentation of skin and/or hair SNOMEDCT_2005_07_31:58262005 Kwashiokor SNOMEDCT_2005_07_31:154730001 MTHICD9_2006:260 Nutritional edema with dyspigmentation of skin and hair Kwashiokor SNOMEDCT_2005_07_31:267495004 maxillary sinus neoplasm DOID:1358 MSH:D008444 NCI:C3219 SNOMEDCT_US_2015_03_01:126676009 UMLS_CUI:C0024958 disease_ontology neoplasm of maxillary sinus (disorder) tumor of Maxillofacial sinus SNOMEDCT_2005_07_31:126676009 neoplasm of maxillary sinus (disorder) NCI2004_11_17:C3219 tumor of Maxillofacial sinus cholestasis DOID:13580 ICD10CM:K83.1 ICD9CM:576.2 MSH:D002779 NCI:C83006 Obstruction of bile duct SNOMEDCT_US_2015_03_01:197446008 SNOMEDCT_US_2015_03_01:197447004 SNOMEDCT_US_2015_03_01:30144000 SNOMEDCT_US_2015_03_01:33688009 UMLS_CUI:C0008370 bile occlusion disease_ontology ICD9CM_2006:576.2 Obstruction of bile duct CSP2005:0413-4023 bile occlusion magnesium deficiency DOID:13581 Magnesium deficiency Magnesium deficiency (disorder) disease_ontology magnesium deficiency true Magnesium deficiency (disorder) SNOMEDCT_2005_07_31:238118002 CSP2005:1851-4452 magnesium deficiency Magnesium deficiency SNOMEDCT_2005_07_31:190664007 potassium deficiency DOID:13582 K deficiency disease_ontology potassium deficiency true CSP2005:1851-4491 potassium deficiency K deficiency MTHICD9_2006:276.8 fetal nutrition disorder DOID:13583 disease_ontology disorder of fetal nutrition (disorder) true SNOMEDCT_2005_07_31:363089008 disorder of fetal nutrition (disorder) alveolar periostitis Alveolar periostitis (disorder) Alveolitis of jaw Alveolitis of jaw (disorder) Alveolitis of jaw NOS (disorder) DOID:13585 Dry socket Dry tooth socket ICD10CM:M27.3 ICD9CM:526.5 MSH:D004368 SNOMEDCT_US_2015_03_01:12033006 SNOMEDCT_US_2015_03_01:196465007 SNOMEDCT_US_2015_03_01:196466008 SNOMEDCT_US_2015_03_01:196467004 SNOMEDCT_US_2015_03_01:251331003 SNOMEDCT_US_2015_03_01:61804006 UMLS_CUI:C0013240 disease_ontology Dry socket MTHICD9_2006:526.5 Alveolitis of jaw (disorder) SNOMEDCT_2005_07_31:61804006 Alveolitis of jaw NOS (disorder) SNOMEDCT_2005_07_31:196467004 Alveolitis of jaw ICD9CM_2006:526.5 Dry tooth socket SNOMEDCT_2005_07_31:196465007 Dry tooth socket SNOMEDCT_2005_07_31:196466008 Alveolar periostitis (disorder) SNOMEDCT_2005_07_31:251331003 female infertility of uterine origin DOID:13589 ICD10CM:N97.2 ICD9CM:628.3 Infertility, female, of uterine origin SNOMEDCT_US_2015_03_01:156063002 SNOMEDCT_US_2015_03_01:198458005 SNOMEDCT_US_2015_03_01:26899006 UMLS_CUI:C0156416 disease_ontology female infertility of uterine origin (disorder) female infertility of uterine origin NOS (disorder) ICD9CM_2006:628.3 Infertility, female, of uterine origin SNOMEDCT_2005_07_31:26899006 female infertility of uterine origin (disorder) SNOMEDCT_2005_07_31:198458005 female infertility of uterine origin NOS (disorder) eclampsia A pre-eclampsia characterized by the presence of seizures. DOID:13592 DOID:13593 Eclampsia in puerperium (disorder) Eclampsia, postpartum ICD10CM:O15 ICD10CM:O15.9 MSH:D004461 NCI:C87167 Postpartum eclampsia SNOMEDCT_US_2015_03_01:156111007 SNOMEDCT_US_2015_03_01:15938005 SNOMEDCT_US_2015_03_01:198988006 SNOMEDCT_US_2015_03_01:198989003 SNOMEDCT_US_2015_03_01:198996001 UMLS_CUI:C0013537 disease_ontology Eclampsia in puerperium (disorder) SNOMEDCT_2005_07_31:303063000 Eclampsia, postpartum ICD9CM_2006:642.64 A pre-eclampsia characterized by the presence of seizures. PMID:24400024 url:http://ghr.nlm.nih.gov/condition/preeclampsia vaginal carcinosarcoma DOID:136 DOID:1904 DOID:6172 NCI:C40274 NCI:C40276 NCI:C40278 UMLS_CUI:C1512974 UMLS_CUI:C1519918 UMLS_CUI:C1519924 disease_ontology malignant vaginal mixed epithelial and mesenchymal tumor vaginal malignant mixed Mullerian tumor vaginal malignant mixed mesodermal (mullerian) tumor vaginal mixed epithelial and mesenchymal tumor frontal sinus cancer DOID:1360 ICD10CM:C31.2 ICD9CM:160.4 NCI:C3542 SNOMEDCT_US_2015_03_01:363427000 SNOMEDCT_US_2015_03_01:93808006 UMLS_CUI:C0153478 disease_ontology malignant neoplasm of frontal sinus malignant tumor of frontal sinus (disorder) malignant tumor of the Frontal sinus NCI2004_11_17:C3542 malignant tumor of the Frontal sinus SNOMEDCT_2005_07_31:93808006 malignant neoplasm of frontal sinus MTH:U001261 malignant neoplasm of frontal sinus ICD9CM_2006:160.4 malignant neoplasm of frontal sinus SNOMEDCT_2005_07_31:363427000 malignant tumor of frontal sinus (disorder) enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. DOID:13601 Enteropathogenic Escherichia coli gastrointestinal tract infection Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder) disease_ontology intestinal infection due to enteropathogenic E. coli true Enteropathogenic Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186130000 Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240353001 ICD9CM_2006:008.01 intestinal infection due to enteropathogenic E. coli An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. url:http://www.textbookofbacteriology.net/e.coli_4.html acute schizophrenic episode subchronic state DOID:13602 disease_ontology true obstructive jaundice Cholestatic Jaundice Cholestatic jaundice syndrome (disorder) DOID:13603 MSH:D041781 NCI:C34742 Obstructive hyperbilirubinemia Obstructive hyperbilirubinemia (disorder) Obstructive jaundice NOS Obstructive jaundice NOS (disorder) SNOMEDCT_US_2015_03_01:155832005 SNOMEDCT_US_2015_03_01:197452009 SNOMEDCT_US_2015_03_01:266545005 SNOMEDCT_US_2015_03_01:44018007 SNOMEDCT_US_2015_03_01:59848001 UMLS_CUI:C0022354 disease_ontology Obstructive jaundice NOS (disorder) SNOMEDCT_2005_07_31:197452009 Obstructive hyperbilirubinemia (disorder) SNOMEDCT_2005_07_31:59848001 Cholestatic Jaundice NCI2004_11_17:C34742 MTH:U000257 Obstructive hyperbilirubinemia Obstructive jaundice NOS SNOMEDCT_2005_07_31:266545005 Cholestatic jaundice syndrome (disorder) SNOMEDCT_2005_07_31:44018007 Obstructive jaundice NOS SNOMEDCT_2005_07_31:155832005 acute schizophrenic episode chronic state with acute exacerbation DOID:13604 disease_ontology true acute schizophrenic episode chronic state DOID:13605 disease_ontology true biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. Atresia of bile duct Congenital biliary atresia (disorder) DOID:13608 EFOpat_id:8781 ICD10CM:Q44.2 ICD9CM:751.61 MSH:D001656 NCI:C34421 NCI:C97069 ORDO:30391 SNOMEDCT_US_2015_03_01:204779004 SNOMEDCT_US_2015_03_01:204783004 SNOMEDCT_US_2015_03_01:77480004 SNOMEDCT_US_2015_03_01:82821008 UMLS_CUI:C0005411 biliary atresia, congenital disease_ontology Atresia of bile duct SNOMEDCT_2005_07_31:204779004 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. url:http://en.wikipedia.org/wiki/Biliary_atresia url:http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm ICD9CM_2006:751.61 biliary atresia, congenital Congenital biliary atresia (disorder) SNOMEDCT_2005_07_31:77480004 frontal sinus neoplasm DOID:1361 NCI:C4419 SNOMEDCT_US_2015_03_01:126678005 UMLS_CUI:C0345672 disease_ontology neoplasm of frontal sinus (disorder) tumor of the Frontal sinus SNOMEDCT_2005_07_31:126678005 neoplasm of frontal sinus (disorder) NCI2004_11_17:C4419 tumor of the Frontal sinus extrahepatic cholestasis DOID:13619 MSH:D001651 NCI:C34420 SNOMEDCT_US_2015_03_01:20719006 SNOMEDCT_US_2015_03_01:8262006 UMLS_CUI:C0005398 disease_ontology extrahepatic biliary Stasis extrahepatic cholestasis (finding) extrahepatic obstructive biliary disease (disorder) SNOMEDCT_2005_07_31:8262006 extrahepatic obstructive biliary disease (disorder) NCI2004_11_17:C34420 extrahepatic biliary Stasis SNOMEDCT_2005_07_31:20719006 extrahepatic cholestasis (finding) paranasal sinus sarcoma A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. DOID:1362 NCI:C6849 UMLS_CUI:C1335342 disease_ontology sarcoma of Accessory sinus A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient NCI2004_11_17:C6849 sarcoma of Accessory sinus patent foramen ovale Atrial septal defect within oval fossa (disorder) DOID:13620 Defect, Patent or persistent, ostium secundum ICD10CM:Q21.1 MSH:D054092 NCI:C34619 Ostium secundum type atrial septal defect Ostium secundum type atrial septal defect (disorder) [Ambiguous] Patent Foramen Ovale Patent foramen ovale Patent foramen ovale (disorder) Persistent ostium secundum (disorder) SNOMEDCT_US_2015_03_01:156912004 SNOMEDCT_US_2015_03_01:204317008 SNOMEDCT_US_2015_03_01:268316001 SNOMEDCT_US_2015_03_01:78902000 UMLS_CUI:C0016522 disease_ontology foramen ovale patent Patent foramen ovale (disorder) SNOMEDCT_2005_07_31:204317008 Patent foramen ovale SNOMEDCT_2005_07_31:268316001 Defect, Patent or persistent, ostium secundum MTHICD9_2006:745.5 CSP2005:0725-0467 foramen ovale patent ICD9CM_2006:745.5 Ostium secundum type atrial septal defect Persistent ostium secundum (disorder) SNOMEDCT_2005_07_31:204318003 Patent foramen ovale SNOMEDCT_2005_07_31:156912004 Ostium secundum type atrial septal defect (disorder) [Ambiguous] SNOMEDCT_2005_07_31:78902000 NCI2004_11_17:C34619 Patent Foramen Ovale Atrial septal defect within oval fossa (disorder) SNOMEDCT_2005_07_31:204315000 campylobacteriosis (Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis) A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. Campylobacteriosis (disorder) DOID:13621 DOID:13622 MSH:D002169 SNOMEDCT_US_2015_03_01:86500004 UMLS_CUI:C0006818 disease_ontology (Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis) SNOMEDCT_2005_07_31:186143000 Campylobacteriosis (disorder) SNOMEDCT_2005_07_31:86500004 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. url:http://en.wikipedia.org/wiki/Campylobacteriosis url:http://www.health.state.ny.us/diseases/communicable/campylobacteriosis/fact_sheet.htm staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. DOID:13623 Staphylococcal enterocolitis (disorder) disease_ontology intestinal infection due to staphylococcus true A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. url:http://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001 SNOMEDCT_2005_07_31:32527003 Staphylococcal enterocolitis (disorder) ICD9CM_2006:008.41 intestinal infection due to staphylococcus photokeratitis DOID:13626 ICD10CM:H16.13 ICD9CM:370.24 Photokeratitis (disorder) Photokeratitis NOS (disorder) SNOMEDCT_US_2015_03_01:1714005 SNOMEDCT_US_2015_03_01:193770007 UMLS_CUI:C0155078 disease_ontology Photokeratitis NOS (disorder) SNOMEDCT_2005_07_31:193770007 Photokeratitis (disorder) SNOMEDCT_2005_07_31:1714005 glucose-6-phosphate dehydrogenase deficiency A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. DOID:13628 G6PD deficiency ICD10CM:D55.0 MSH:D005236 NCI:C34607 SNOMEDCT_US_2015_03_01:154801000 SNOMEDCT_US_2015_03_01:191172001 SNOMEDCT_US_2015_03_01:267558001 SNOMEDCT_US_2015_03_01:76500009 UMLS_CUI:C0015702 disease_ontology favism A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency dentine erosion DOID:13629 ICD9CM:521.32 UMLS_CUI:C1456162 disease_ontology ethmoid sinus cancer DOID:1363 ICD10CM:C31.1 ICD9CM:160.3 NCI:C3541 SNOMEDCT_US_2015_03_01:363426009 SNOMEDCT_US_2015_03_01:93787005 UMLS_CUI:C0153477 disease_ontology malignant neoplasm of ethmoidal sinus malignant tumor of ethmoid sinus (disorder) malignant tumor of ethmoidal sinus NCI2004_11_17:C3541 malignant tumor of ethmoidal sinus ICD9CM_2006:160.3 malignant neoplasm of ethmoidal sinus SNOMEDCT_2005_07_31:93787005 malignant neoplasm of ethmoidal sinus SNOMEDCT_2005_07_31:363426009 malignant tumor of ethmoid sinus (disorder) Fanconi's anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. DOID:13636 Fanconi anemia Fanconi pancytopenia Fanconi panmyelopathy ICD10CM:D61.09 MSH:D005199 NCI:C62505 OMIM:227645 OMIM:227646 OMIM:227650 OMIM:300514 OMIM:600901 OMIM:603467 OMIM:605724 OMIM:609053 OMIM:609054 OMIM:610832 OMIM:613390 OMIM:613951 OMIM:614082 OMIM:614083 OMIM:614087 OMIM:615272 ORDO:84 SNOMEDCT_US_2015_03_01:30575002 UMLS_CUI:C0015625 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. disease_ontology A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. url:http://en.wikipedia.org/wiki/Fanconi_anemia url:http://ghr.nlm.nih.gov/condition/fanconi-anemia url:http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 ethmoidal sinus neoplasm DOID:1364 NCI:C4416 SNOMEDCT_US_2015_03_01:126677000 UMLS_CUI:C0345668 disease_ontology neoplasm of ethmoidal sinus (disorder) tumor of ethmoidal sinus NCI2004_11_17:C4416 tumor of ethmoidal sinus SNOMEDCT_2005_07_31:126677000 neoplasm of ethmoidal sinus (disorder) exfoliation syndrome DOID:13641 EFO:0004235 ICD9CM:365.52 MSH:D017889 OMIM mapping confirmed by DO. [SN]. OMIM:177650 Pseudoexfoliation glaucoma Pseudoexfoliation glaucoma (disorder) Pseudoexfoliation syndrome SNOMEDCT_US_2015_03_01:111514006 SNOMEDCT_US_2015_03_01:44219007 UMLS_CUI:C0206368 disease_ontology Pseudoexfoliation syndrome SNOMEDCT_2005_07_31:44219007 Pseudoexfoliation glaucoma (disorder) SNOMEDCT_2005_07_31:111514006 ICD9CM_2006:365.52 Pseudoexfoliation glaucoma pneumococcal septicemia DOID:13643 Pneumococcal septicemia (disorder) Pneumococcal septicemia [Streptococcus pneumoniae septicemia] Septicaemia due to streptococcus pneumoniae Septicemia due to streptococcus pneumoniae (disorder) Streptococcus pneumoniae septicemia disease_ontology true MTHICD9_2006:038.2 Streptococcus pneumoniae septicemia SNOMEDCT_2005_07_31:310668004 Septicemia due to streptococcus pneumoniae (disorder) SNOMEDCT_2005_07_31:186382007 Septicaemia due to streptococcus pneumoniae Pneumococcal septicemia (disorder) SNOMEDCT_2005_07_31:90849005 ICD9CM_2006:038.2 Pneumococcal septicemia [Streptococcus pneumoniae septicemia] streptococcal septicemia DOID:13644 Streptococcal septicemia (disorder) Streptococcal septicemia, unspecified (disorder) disease_ontology true SNOMEDCT_2005_07_31:29577008 Streptococcal septicemia (disorder) SNOMEDCT_2005_07_31:187330001 Streptococcal septicemia, unspecified (disorder) paranoid state DOID:13647 DOID:13648 disease_ontology true polyneuropathy in collagen vascular disease DOID:13649 ICD9CM:357.1 Polyneuropathy in collagen vascular disease (disorder) Polyneuropathy in collagen vascular disease NOS (disorder) SNOMEDCT_US_2015_03_01:193177003 SNOMEDCT_US_2015_03_01:193181003 UMLS_CUI:C0154759 disease_ontology Polyneuropathy in collagen vascular disease NOS (disorder) SNOMEDCT_2005_07_31:193181003 Polyneuropathy in collagen vascular disease (disorder) SNOMEDCT_2005_07_31:193177003 joint disorder DOID:13650 DOID:13851 DOID:14229 DOID:14273 DOID:14281 DOID:7102 DOID:9932 Joint disorder NOS, of ankle and foot (disorder) Joint disorder NOS, of multiple sites Joint disorder NOS, of multiple sites (disorder) Joint disorder NOS, of shoulder region Joint disorder NOS, of shoulder region (disorder) Joint disorder NOS, of the forearm Joint disorder NOS, of the forearm (disorder) Joint disorder NOS, of the lower leg Joint disorder NOS, of the lower leg (disorder) Joint disorder NOS, of the pelvic region and thigh Joint disorder NOS, of the pelvic region and thigh (disorder) Joint disorder NOS, of the upper arm Joint disorder NOS, of the upper arm (disorder) Unspecified disorder of ankle and foot joint Unspecified disorder of forearm joint Unspecified disorder of joint of pelvic region and thigh Unspecified disorder of joint of shoulder region Unspecified disorder of lower leg joint Unspecified disorder of upper arm joint Unspecified joint disorder of multiple sites disease_ontology true Joint disorder NOS, of ankle and foot (disorder) SNOMEDCT_2005_07_31:202642007 Joint disorder NOS, of the upper arm (disorder) SNOMEDCT_2005_07_31:202637004 Joint disorder NOS, of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:202640004 ICD9CM_2006:719.96 Unspecified disorder of lower leg joint ICD9CM_2006:719.93 Unspecified disorder of forearm joint Joint disorder NOS, of the forearm (disorder) SNOMEDCT_2005_07_31:202638009 ICD9CM_2006:719.91 Unspecified disorder of joint of shoulder region ICD9CM_2006:719.92 Unspecified disorder of upper arm joint ICD9CM_2006:719.97 Unspecified disorder of ankle and foot joint ICD9CM_2006:719.99 Unspecified joint disorder of multiple sites Joint disorder NOS, of shoulder region (disorder) SNOMEDCT_2005_07_31:202636008 Joint disorder NOS, of the lower leg (disorder) SNOMEDCT_2005_07_31:202641000 ICD9CM_2006:719.95 Unspecified disorder of joint of pelvic region and thigh Joint disorder NOS, of multiple sites (disorder) SNOMEDCT_2005_07_31:202644008 eversion of lacrimal punctum DOID:13651 Eversion of lacrimal punctum (disorder) ICD10CM:H04.52 ICD9CM:375.51 SNOMEDCT_US_2015_03_01:28244003 UMLS_CUI:C0155243 disease_ontology Eversion of lacrimal punctum (disorder) SNOMEDCT_2005_07_31:28244003 stenosis of lacrimal punctum DOID:13653 ICD10CM:H04.56 ICD9CM:375.52 SNOMEDCT_US_2015_03_01:74783009 Stenosis of lacrimal punctum (disorder) UMLS_CUI:C0155244 disease_ontology SNOMEDCT_2005_07_31:74783009 Stenosis of lacrimal punctum (disorder) stenosis of lacrimal passage DOID:13654 ICD10CM:H04.54 ICD10CM:H04.549 ICD9CM:375.53 SNOMEDCT_US_2015_03_01:193992001 SNOMEDCT_US_2015_03_01:81345003 Stenosis of lacrimal canaliculi Stenosis of lacrimal canaliculi (disorder) UMLS_CUI:C0155245 disease_ontology SNOMEDCT_2005_07_31:81345003 Stenosis of lacrimal canaliculi (disorder) ICD9CM_2006:375.53 Stenosis of lacrimal canaliculi acquired tear duct stenosis DOID:13655 ICD10CM:H04.55 ICD9CM:375.56 SNOMEDCT_US_2015_03_01:155184002 SNOMEDCT_US_2015_03_01:193995004 SNOMEDCT_US_2015_03_01:267739007 SNOMEDCT_US_2015_03_01:90056003 Stenosis of nasolacrimal duct, acquired Tear duct - acquired stenosis UMLS_CUI:C0155248 acquired nasolacrimal duct stenosis (disorder) acquired stenosis of nasolacrimal duct (disorder) disease_ontology SNOMEDCT_2005_07_31:90056003 acquired stenosis of nasolacrimal duct (disorder) SNOMEDCT_2005_07_31:267739007 Tear duct - acquired stenosis SNOMEDCT_2005_07_31:155184002 Tear duct - acquired stenosis SNOMEDCT_2005_07_31:193995004 acquired nasolacrimal duct stenosis (disorder) ICD9CM_2006:375.56 Stenosis of nasolacrimal duct, acquired gastrin secretion abnormality DOID:13656 Gastrin secretion abnormality NOS (disorder) ICD9CM:251.5 SNOMEDCT_US_2015_03_01:190443003 SNOMEDCT_US_2015_03_01:190445005 SNOMEDCT_US_2015_03_01:47344007 UMLS_CUI:C0000774 abnormality of gastrin secretion abnormality of secretion of gastrin abnormality of secretion of gastrin (disorder) disease_ontology Gastrin secretion abnormality NOS (disorder) SNOMEDCT_2005_07_31:190445005 SNOMEDCT_2005_07_31:190443003 abnormality of gastrin secretion ICD9CM_2006:251.5 abnormality of secretion of gastrin SNOMEDCT_2005_07_31:47344007 abnormality of secretion of gastrin (disorder) infective urethral stricture DOID:13658 ICD9CM:598.01 UMLS_CUI:C0156282 disease_ontology ulcer of anus and rectum DOID:13662 ICD10CM:K62.6 ICD9CM:569.41 SNOMEDCT_US_2015_03_01:197227009 UMLS_CUI:C0400832 anal and rectal ulcer NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:197227009 anal and rectal ulcer NOS (disorder) acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. DOID:13663 acute suppurative otitis media without spontaneous rupture of ear drum acute suppurative otitis media without spontaneous rupture of ear drum (disorder) disease_ontology true ICD9CM_2006:382.00 acute suppurative otitis media without spontaneous rupture of ear drum A purulent acute otitis media with no perforation of the tympanic membrane. url:http://books.google.com/books?id=V3p0FpcwweYC&pg=PA701&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:14948001 acute suppurative otitis media without spontaneous rupture of ear drum (disorder) post-vaccinal encephalitis DOID:13664 Encephalitis following immunization procedures ICD10CM:G04.02 MSH:D004673 Post-Vaccinal Encephalomyelitis Postvaccinal encephalomyelitis (disorder) SNOMEDCT_US_2015_03_01:31367003 UMLS_CUI:C0751101 disease_ontology Encephalitis following immunization procedures ICD9CM_2006:323.5 Postvaccinal encephalomyelitis (disorder) SNOMEDCT_2005_07_31:31367003 meningococcal encephalitis DOID:13668 Meningococcal encephalitis (disorder) disease_ontology true Meningococcal encephalitis (disorder) SNOMEDCT_2005_07_31:18071005 hypocalcemia and hypomagnesemia of newborn DOID:13670 Hypocalcemia and/or hypomagnesemia of newborn (disorder) disease_ontology true Hypocalcemia and/or hypomagnesemia of newborn (disorder) SNOMEDCT_2005_07_31:77604004 posterior scleritis DOID:13676 ICD10CM:H15.03 ICD9CM:379.07 Posterior scleritis (disorder) Posterior scleritis (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:194144007 SNOMEDCT_US_2015_03_01:267660007 SNOMEDCT_US_2015_03_01:49429000 UMLS_CUI:C0155357 disease_ontology Posterior scleritis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:49429000 Posterior scleritis (disorder) SNOMEDCT_2005_07_31:267660007 SAPHO syndrome DOID:13677 MSH:D020083 NCI:C84530 SNOMEDCT_US_2015_03_01:203140009 SNOMEDCT_US_2015_03_01:60684003 Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome UMLS_CUI:C0263859 disease_ontology SNOMEDCT_2005_07_31:203140009 Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome simple type schizophrenia subchronic state DOID:13679 disease_ontology true simple type schizophrenia subchronic state with acute exacerbation DOID:13680 disease_ontology true simple type schizophrenia in remission DOID:13681 disease_ontology true simple type schizophrenia chronic state DOID:13682 disease_ontology true chronic duodenal ileus DOID:13687 ICD10CM:K31.5 ICD9CM:537.2 SNOMEDCT_US_2015_03_01:52232007 UMLS_CUI:C0156087 chronic duodenal ileus (disorder) disease_ontology SNOMEDCT_2005_07_31:52232007 chronic duodenal ileus (disorder) prostate calculus DOID:13689 ICD10CM:N42.0 ICD9CM:602.0 NCI:C26936 Prostatic lithiasis Prostatic stone SNOMEDCT_US_2015_03_01:155934005 SNOMEDCT_US_2015_03_01:85324003 SNOMEDCT_US_2015_03_01:95592006 Stone of prostate UMLS_CUI:C0149525 calculus of prostate calculus of prostate (disorder) disease_ontology Prostatic lithiasis SNOMEDCT_2005_07_31:95592006 SNOMEDCT_2005_07_31:85324003 calculus of prostate (disorder) SNOMEDCT_2005_07_31:155934005 calculus of prostate NCI2004_11_17:C26936 Stone of prostate MTHICD9_2006:602.0 Prostatic stone ICD9CM_2006:602.0 calculus of prostate acute gonococcal cystitis DOID:13690 Gonococcal cystitis (acute) ICD9CM:098.11 SNOMEDCT_US_2015_03_01:24868007 UMLS_CUI:C0153191 acute gonococcal cystitis (disorder) acute gonorrhea of bladder disease_ontology MTHICD9_2006:098.11 acute gonorrhea of bladder Gonococcal cystitis (acute) ICD9CM_2006:098.11 SNOMEDCT_2005_07_31:24868007 acute gonococcal cystitis (disorder) dermoid cyst of skin DOID:13691 Dermoid cyst of skin Dermoid cyst of skin (finding) NCI:C4632 SNOMEDCT_US_2015_03_01:154630005 SNOMEDCT_US_2015_03_01:201325006 SNOMEDCT_US_2015_03_01:276729007 UMLS_CUI:C0349502 disease_ontology skin Dermoid NCI2004_11_17:C4632 skin Dermoid Dermoid cyst of skin SNOMEDCT_2005_07_31:154630005 Dermoid cyst of skin SNOMEDCT_2005_07_31:201325006 Dermoid cyst of skin (finding) SNOMEDCT_2005_07_31:276729007 disorder of ureter DOID:13693 Ureteric disease disease_ontology disorder of ureter (disorder) true NCI2004_11_17:C27148 Ureteric disease SNOMEDCT_2005_07_31:128073008 disorder of ureter (disorder) unilateral vesicoureteral reflux with reflux nephropathy DOID:13694 disease_ontology true bilateral vesicoureteral reflux with reflux nephropathy DOID:13695 disease_ontology true vesicoureteral reflux with reflux nephropathy DOID:13696 disease_ontology true vagina squamous papilloma DOID:137 NCI:C6374 UMLS_CUI:C1336943 disease_ontology squamous papilloma of vagina NCI2004_11_17:C6374 squamous papilloma of vagina postpartum benign essential hypertension DOID:13702 disease_ontology true premature ejaculation DOID:13709 ICD10CM:F52.4 ICD9CM:302.75 MSH:D061686 NCI:C94349 SNOMEDCT_US_2015_03_01:123302009 SNOMEDCT_US_2015_03_01:154905005 SNOMEDCT_US_2015_03_01:192468006 SNOMEDCT_US_2015_03_01:268762007 SNOMEDCT_US_2015_03_01:44001008 UMLS_CUI:C0033038 disease_ontology uterine corpus adenomatoid tumor DOID:1371 NCI:C27250 UMLS_CUI:C1336902 disease_ontology uterine corpus localized epithelial Mesothelioma dental fluorosis DOID:13711 ICD10CM:K00.3 ICD9CM:520.3 Intrinsic enamel discolouration of fluorosis MSH:D009050 Mottled teeth Mottling of enamel NCI:C85059 SNOMEDCT_US_2015_03_01:120541000119103 SNOMEDCT_US_2015_03_01:30265004 UMLS_CUI:C0026618 disease_ontology ICD9CM_2006:520.3 Mottled teeth Intrinsic enamel discolouration of fluorosis SNOMEDCT_2005_07_31:30265004 MTHICD9_2006:520.3 Mottling of enamel anodontia Anodontia Anodontia (disorder) Anodontia NOS (finding) Complete absence of teeth DOID:13714 Developmental absence of tooth ICD10CM:K00.0 ICD9CM:520.0 MSH:D000848 OMIM:206780 SNOMEDCT_US_2015_03_01:16958000 SNOMEDCT_US_2015_03_01:196265005 SNOMEDCT_US_2015_03_01:196266006 SNOMEDCT_US_2015_03_01:196269004 SNOMEDCT_US_2015_03_01:234951001 SNOMEDCT_US_2015_03_01:26624006 Total anodontia of permanent and deciduous teeth UMLS_CUI:C0399352 disease_ontology SNOMEDCT_2005_07_31:16958000 Total anodontia of permanent and deciduous teeth Anodontia (disorder) SNOMEDCT_2005_07_31:26624006 Anodontia NOS (finding) SNOMEDCT_2005_07_31:196269004 Anodontia ICD9CM_2006:520.0 Anodontia SNOMEDCT_2005_07_31:196266006 Complete absence of teeth MTHICD9_2006:520.0 Anodontia SNOMEDCT_2005_07_31:196265005 mature cataract DOID:13717 Mature cataract (disorder) SNOMEDCT_US_2015_03_01:193590000 Total or mature cataract Total, mature senile cataract (disorder) UMLS_CUI:C0152257 disease_ontology ICD9CM_2006:366.17 Total or mature cataract SNOMEDCT_2005_07_31:193590000 Total, mature senile cataract (disorder) Mature cataract (disorder) SNOMEDCT_2005_07_31:849000 Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. DOID:13720 Infection by Schistosoma Mattheii Infection by Schistosoma mattheii (disorder) disease_ontology true Infection by Schistosoma Mattheii NCI2004_11_17:C35365 A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. url:http://en.wikipedia.org/wiki/Schistosomiasis Infection by Schistosoma mattheii (disorder) SNOMEDCT_2005_07_31:38201005 neuroschistosomiasis A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. DOID:13722 MSH:D020818 UMLS_CUI:C0752191 disease_ontology A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. url:http://www.ajtmh.org/cgi/content/full/76/5/964 url:http://www.cdc.gov/ncidod/eid/vol12no09/06-0113.htm url:http://www.ncbi.nlm.nih.gov/pubmed/16138195 url:http://www.ncbi.nlm.nih.gov/sites/entrez/16138195 Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. DOID:13723 Infection by Schistosoma Bovis Infection by Schistosoma bovis (disorder) disease_ontology true Infection by Schistosoma Bovis NCI2004_11_17:C35363 Infection by Schistosoma bovis (disorder) SNOMEDCT_2005_07_31:111920004 A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10333324 scurvy DOID:13724 ICD10CM:E54 MSH:D012614 NCI:C35010 OMIM mapping confirmed by DO. [SN]. OMIM:240400 SNOMEDCT_US_2015_03_01:154727008 SNOMEDCT_US_2015_03_01:190638001 SNOMEDCT_US_2015_03_01:238129003 SNOMEDCT_US_2015_03_01:267493006 SNOMEDCT_US_2015_03_01:76169001 UMLS_CUI:C0036474 disease_ontology beriberi DOID:13725 ICD10CM:E51.1 ICD10CM:E51.11 ICD9CM:265.0 MSH:D001602 NCI:C34418 SNOMEDCT_US_2015_03_01:154725000 SNOMEDCT_US_2015_03_01:190625009 SNOMEDCT_US_2015_03_01:267491008 SNOMEDCT_US_2015_03_01:35843007 SNOMEDCT_US_2015_03_01:36656008 UMLS_CUI:C0005122 disease_ontology endometrial stromal nodule DOID:1373 NCI:C4262 SNOMEDCT_US_2015_03_01:189810002 SNOMEDCT_US_2015_03_01:70971005 UMLS_CUI:C0334485 disease_ontology malignant renovascular hypertension DOID:13730 disease_ontology malignant secondary hypertension DOID:13731 ICD9CM:405.0 SNOMEDCT_US_2015_03_01:194784007 SNOMEDCT_US_2015_03_01:49863005 SNOMEDCT_US_2015_03_01:89242004 UMLS_CUI:C0155617 disease_ontology panophthalmitis DOID:13732 ICD9CM:360.02 MSH:D010202 Panophthalmitis (disorder) SNOMEDCT_US_2015_03_01:33382000 UMLS_CUI:C0030332 disease_ontology Panophthalmitis (disorder) SNOMEDCT_2005_07_31:33382000 AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. DOID:13734 disease_ontology true A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm uterine inflammatory disease DOID:13736 ICD10CM:N71.9 ICD9CM:615.9 Inflammatory disease of the uterus (disorder) SNOMEDCT_US_2015_03_01:198191007 SNOMEDCT_US_2015_03_01:198197006 SNOMEDCT_US_2015_03_01:28783002 UMLS_CUI:C0269047 Unspecified inflammatory disease of uterus Unspecified uterine inflammatory disease (disorder) Unspecified uterine inflammatory disease NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:198197006 Unspecified uterine inflammatory disease NOS (disorder) Inflammatory disease of the uterus (disorder) SNOMEDCT_2005_07_31:28783002 SNOMEDCT_2005_07_31:198191007 Unspecified uterine inflammatory disease (disorder) ICD9CM_2006:615.9 Unspecified inflammatory disease of uterus infarct of liver DOID:13738 ICD10CM:K76.3 ICD9CM:573.4 SNOMEDCT_US_2015_03_01:17890003 UMLS_CUI:C0151731 disease_ontology hepatic infarction hepatic infarction (disorder) SNOMEDCT_2005_07_31:17890003 hepatic infarction (disorder) ICD9CM_2006:573.4 hepatic infarction nutmeg liver DOID:13739 ICD10CM:K76.1 ICD9CM:573.0 SNOMEDCT_US_2015_03_01:34736002 UMLS_CUI:C0156195 chronic passive congestion of liver chronic passive congestion of liver (disorder) disease_ontology ICD9CM_2006:573.0 chronic passive congestion of liver SNOMEDCT_2005_07_31:34736002 chronic passive congestion of liver (disorder) neurofibroma of spinal cord DOID:13742 NCI:C5145 UMLS_CUI:C1336047 disease_ontology spinal cord lipoma DOID:13743 Lipoma of spinal cord (disorder) NCI:C4619 SNOMEDCT_US_2015_03_01:189017000 Spinal Cord Lipoma UMLS_CUI:C0347446 disease_ontology Lipoma of spinal cord (disorder) SNOMEDCT_2005_07_31:189017000 NCI2004_11_17:C4619 Spinal Cord Lipoma neonatal urinary tract infectious disease DOID:1375 ICD10CM:P39.3 ICD9CM:771.82 Neonatal urinary tract infection (disorder) SNOMEDCT_US_2015_03_01:12301009 UMLS_CUI:C0235815 disease_ontology urinary tract infection of newborn Neonatal urinary tract infection (disorder) SNOMEDCT_2005_07_31:12301009 ICD9CM_2006:771.82 urinary tract infection of newborn Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. DOID:13753 Histoplasma duboisii with meningitis (disorder) disease_ontology true Histoplasma duboisii with meningitis (disorder) SNOMEDCT_2005_07_31:187048004 An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. DOID:13754 Histoplasma capsulatum with meningitis (disorder) disease_ontology true Histoplasma capsulatum with meningitis (disorder) SNOMEDCT_2005_07_31:187038001 An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. DOID:13755 Histoplasma duboisii with pericarditis (disorder) disease_ontology true Histoplasma duboisii with pericarditis (disorder) SNOMEDCT_2005_07_31:187050007 An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:http://emedicine.medscape.com/article/299054-overview url:http://www.ncbi.nlm.nih.gov/pubmed/16924162 epiphora due to insufficient drainage DOID:13756 Epiphora due to insufficient drainage (disorder) ICD10CM:H04.22 ICD9CM:375.22 SNOMEDCT_US_2015_03_01:85042000 UMLS_CUI:C0155234 disease_ontology Epiphora due to insufficient drainage (disorder) SNOMEDCT_2005_07_31:85042000 excessive tearing (lacrimal disorder NOS) or (epiphora) DOID:13757 Epiphora Epiphora NOS (disorder) Epiphora, unspecified as to cause Excessive tear production (disorder) Has watering eyes Has watering eyes (finding) ICD10CM:H04.2 ICD10CM:H04.20 ICD9CM:375.2 ICD9CM:375.20 MSH:D007766 NCI:C50552 SNOMEDCT_US_2015_03_01:155185001 SNOMEDCT_US_2015_03_01:193982009 SNOMEDCT_US_2015_03_01:193985006 SNOMEDCT_US_2015_03_01:267740009 SNOMEDCT_US_2015_03_01:418035005 SNOMEDCT_US_2015_03_01:49393005 UMLS_CUI:C0152227 Watering eye disease_ontology Has watering eyes SNOMEDCT_2005_07_31:139559008 Epiphora ICD9CM_2006:375.2 Epiphora NOS (disorder) SNOMEDCT_2005_07_31:193985006 Excessive tear production (disorder) SNOMEDCT_2005_07_31:49393005 Has watering eyes SNOMEDCT_2005_07_31:162289008 (lacrimal disorder NOS) or (epiphora) SNOMEDCT_2005_07_31:155185001 SNOMEDCT_2005_07_31:193982009 Watering eye (lacrimal disorder NOS) or (epiphora) SNOMEDCT_2005_07_31:267740009 Epiphora, unspecified as to cause ICD9CM_2006:375.20 Has watering eyes (finding) SNOMEDCT_2005_07_31:267094008 perinatal infectious disease DOID:1376 disease_ontology true Pthirus pubis infestation A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. DOID:13760 ICD10CM:B85.3 ICD9CM:132.2 Infestation by Phthirus pubis (disorder) NCI:C35777 Pediculosis Pubis Pediculus pubis Phthiriasis pubis Phthirus pubis Phthirus pubis [pubic louse] Phthirus/pediculus pubis - pubic lice - crabs (& infestation) SNOMEDCT_US_2015_03_01:154420009 SNOMEDCT_US_2015_03_01:187210003 SNOMEDCT_US_2015_03_01:243683001 SNOMEDCT_US_2015_03_01:271545007 SNOMEDCT_US_2015_03_01:71011005 UMLS_CUI:C0030759 crabs disease_ontology NCI2004_11_17:C35777 Pediculosis Pubis Phthirus/pediculus pubis - pubic lice - crabs (& infestation) SNOMEDCT_2005_07_31:187210003 Phthirus/pediculus pubis - pubic lice - crabs (& infestation) SNOMEDCT_2005_07_31:154420009 A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. url:http://www.cdc.gov/lice/pubic/disease.html Infestation by Phthirus pubis (disorder) SNOMEDCT_2005_07_31:71011005 MTHICD9_2006:132.2 Pediculus pubis Phthiriasis pubis SNOMEDCT_2005_07_31:271545007 ICD9CM_2006:132.2 Phthirus pubis [pubic louse] Phthirus pubis SNOMEDCT_2005_07_31:243683001 bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. DOID:13762 disease_ontology true A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16965857 dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. Covering disease DOID:13763 Infection by Trypanosoma equiperdum (disorder) disease_ontology true A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. url:http://en.wikipedia.org/wiki/Dourine url:http://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf Covering disease MTH:NOCODE Infection by Trypanosoma equiperdum (disorder) SNOMEDCT_2005_07_31:15566009 clonorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. Clonorchiasis (disorder) DOID:13767 ICD10CM:B66.1 ICD9CM:121.1 MSH:D003003 Oriental liver fluke disease SNOMEDCT_US_2015_03_01:11938002 UMLS_CUI:C0009021 disease_ontology Clonorchiasis (disorder) SNOMEDCT_2005_07_31:11938002 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. url:http://en.wikipedia.org/wiki/Clonorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm MTHICD9_2006:121.1 Oriental liver fluke disease opisthorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. DOID:13768 ICD10CM:B66.0 ICD9CM:121.0 Infection by Opisthorchis MSH:D009889 Opisthorchiasis (& [cat liver fluke infection]) Opisthorchiasis (disorder) SNOMEDCT_US_2015_03_01:1059007 SNOMEDCT_US_2015_03_01:187124006 UMLS_CUI:C0029106 disease_ontology Infection by Opisthorchis MTHICD9_2006:121.0 A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. url:http://en.wikipedia.org/wiki/Opisthorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm Opisthorchiasis (& [cat liver fluke infection]) SNOMEDCT_2005_07_31:187124006 Opisthorchiasis (disorder) SNOMEDCT_2005_07_31:1059007 Addison's disease ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL Addison disease Addison disease, chronic adrenal insufficiency An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. DOID:13774 HYPOADRENOCORTICISM, FAMILIAL ICD10CM:E27.1 MSH:D000224 NCI:C113172 NCI:C26689 OMIM:103230 OMIM:240200 SNOMEDCT_US_2015_03_01:111562000 SNOMEDCT_US_2015_03_01:154707007 SNOMEDCT_US_2015_03_01:267483004 SNOMEDCT_US_2015_03_01:363732003 SNOMEDCT_US_2015_03_01:367376006 SNOMEDCT_US_2015_03_01:373662000 SNOMEDCT_US_2015_03_01:68588005 UMLS_CUI:C0001403 disease_ontology primary adrenocortical insufficiency (disorder) primary hypoadrenalism SNOMEDCT_2005_07_31:373662000 primary adrenocortical insufficiency (disorder) An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. url:http://en.wikipedia.org/wiki/Addison%27s_disease SNOMEDCT_2005_07_31:68588005 primary hypoadrenalism plantar wart A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. DOID:13775 ICD10CM:B07.0 ICD9CM:078.12 NCI:C26913 PLANTAR WART SNOMEDCT_US_2015_03_01:154363006 SNOMEDCT_US_2015_03_01:63440008 UMLS_CUI:C0042548 Verruca Plantaris Verruca plantaris Verruca plantaris (disorder) disease_ontology NCI2004_11_17:C26913 Verruca Plantaris SNOMEDCT_2005_07_31:63440008 Verruca plantaris (disorder) MTH:587 PLANTAR WART MTHICD9_2006:078.19 Verruca plantaris A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. url:http://en.wikipedia.org/wiki/Plantar_wart epidermodysplasia verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. DOID:13777 MSH:D004819 NCI:C113445 OMIM mapping confirmed by DO. [SN]. OMIM:226400 SNOMEDCT_US_2015_03_01:19138001 UMLS_CUI:C0014522 disease_ontology An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. url:http://emedicine.medscape.com/article/1131981-overview url:http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis chancroid (Chancroid [& bubo]) or (Ducrey's chancre) A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. DOID:13778 ICD10CM:A57 ICD9CM:099.0 MSH:D002602 SNOMEDCT_US_2015_03_01:154391003 SNOMEDCT_US_2015_03_01:186945008 SNOMEDCT_US_2015_03_01:266143009 SNOMEDCT_US_2015_03_01:266213004 SNOMEDCT_US_2015_03_01:87429008 UMLS_CUI:C0007947 Ulcus molle, skin disease_ontology A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. url:http://en.wikipedia.org/wiki/Chancroid url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001659/ (Chancroid [& bubo]) or (Ducrey's chancre) SNOMEDCT_2005_07_31:186945008 MTHICD9_2006:099.0 Ulcus molle, skin uterine corpus mixed epithelial and mesenchymal tumor DOID:1378 disease_ontology true hypermobility syndrome DOID:13781 ICD10CM:M35.7 ICD9CM:728.5 SNOMEDCT_US_2015_03_01:156723005 SNOMEDCT_US_2015_03_01:85551004 UMLS_CUI:C0152093 benign joint hypermobility disease_ontology hypermobility syndrome (disorder) SNOMEDCT_2005_07_31:85551004 hypermobility syndrome (disorder) SNOMEDCT_2005_07_31:156723005 benign joint hypermobility localized anterior staphyloma Anterior staphyloma, localized DOID:13787 ICD10CM:H15.82 ICD9CM:379.14 SNOMEDCT_US_2015_03_01:21946002 UMLS_CUI:C0155362 disease_ontology localized anterior staphyloma (disorder) SNOMEDCT_2005_07_31:21946002 localized anterior staphyloma (disorder) Anterior staphyloma, localized ICD9CM_2006:379.14 equatorial staphyloma DOID:13788 Equatorial staphyloma (disorder) ICD10CM:H15.81 ICD9CM:379.13 SNOMEDCT_US_2015_03_01:82146006 UMLS_CUI:C0155361 disease_ontology Equatorial staphyloma (disorder) SNOMEDCT_2005_07_31:82146006 staphyloma posticum DOID:13789 ICD10CM:H15.83 ICD9CM:379.12 SNOMEDCT_US_2015_03_01:87819007 Staphyloma posticum (disorder) UMLS_CUI:C0155360 disease_ontology SNOMEDCT_2005_07_31:87819007 Staphyloma posticum (disorder) acute tympanitis DOID:13790 ICD10CM:H73.0 ICD10CM:H73.00 ICD10CM:H73.009 ICD9CM:384.00 SNOMEDCT_US_2015_03_01:194312004 SNOMEDCT_US_2015_03_01:194313009 SNOMEDCT_US_2015_03_01:297009 UMLS_CUI:C0155460 Unspecified acute tympanitis (disorder) acute myringitis (disorder) acute myringitis NOS (disorder) acute myringitis, unspecified disease_ontology SNOMEDCT_2005_07_31:297009 acute myringitis (disorder) SNOMEDCT_2005_07_31:194312004 Unspecified acute tympanitis (disorder) SNOMEDCT_2005_07_31:194313009 acute myringitis NOS (disorder) ICD9CM_2006:384.00 acute myringitis, unspecified myringitis bullosa hemorrhagica Bullous myringitis Bullous myringitis (disorder) DOID:13791 ICD10CM:H73.01 ICD9CM:384.01 SNOMEDCT_US_2015_03_01:33528003 UMLS_CUI:C0155461 disease_ontology Bullous myringitis ICD9CM_2006:384.01 Bullous myringitis (disorder) SNOMEDCT_2005_07_31:33528003 anterior scleritis Anterior scleritis (disorder) DOID:13794 ICD10CM:H15.01 ICD9CM:379.03 SNOMEDCT_US_2015_03_01:63454000 UMLS_CUI:C0155353 disease_ontology Anterior scleritis (disorder) SNOMEDCT_2005_07_31:63454000 female breast central part cancer DOID:13799 ICD10CM:C50.11 ICD9CM:174.1 SNOMEDCT_US_2015_03_01:188151006 SNOMEDCT_US_2015_03_01:93745008 UMLS_CUI:C0153549 disease_ontology malignant neoplasm of central part of female breast (disorder) malignant neoplasm of central portion of female breast ICD9CM_2006:174.1 malignant neoplasm of central portion of female breast SNOMEDCT_2005_07_31:188151006 malignant neoplasm of central part of female breast (disorder) SNOMEDCT_2005_07_31:93745008 malignant neoplasm of central portion of female breast vaginal squamous tumor DOID:138 NCI:C40242 UMLS_CUI:C1519931 disease_ontology endometrial cancer A uterine cancer that is located_in tissues lining the uterus. DOID:1380 DOID:5654 EFO:0004230 ICD10CM:C54.1 KEGG:05213 MSH:D016889 NCI:C27815 NCI:C3012 SNOMEDCT_US_2015_03_01:123844007 UMLS_CUI:C0007103 UMLS_CUI:C0014170 disease_ontology endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium (disorder) primary malignant neoplasm of endometrium tumor of Endometrium SNOMEDCT_2005_07_31:123844007 neoplasm of endometrium (disorder) A uterine cancer that is located_in tissues lining the uterus. url:http://www.cancer.gov/dictionary?CdrID=444987 NCI2004_11_17:C27815 malignant endometrial neoplasm SNOMEDCT_2005_07_31:154526001 SNOMEDCT_2005_07_31:269600001 endometrial Ca NCI2004_11_17:C3012 tumor of Endometrium SNOMEDCT_2005_07_31:93781006 primary malignant neoplasm of endometrium inclusion conjunctivitis A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. Chlamydial conjunctivitis DOID:13800 ICD10CM:A74.0 ICD9CM:077.0 Inclusion blennorrhoea MSH:D003235 Paratrachoma SNOMEDCT_US_2015_03_01:111840005 SNOMEDCT_US_2015_03_01:154370006 SNOMEDCT_US_2015_03_01:186674002 SNOMEDCT_US_2015_03_01:186733005 SNOMEDCT_US_2015_03_01:231861005 SNOMEDCT_US_2015_03_01:266109000 SNOMEDCT_US_2015_03_01:266202002 SNOMEDCT_US_2015_03_01:56009001 UMLS_CUI:C0009770 adult inclusion conjunctivitis disease_ontology inclusion blenorrhea CSP2005:1114-8463 inclusion blenorrhea Inclusion blennorrhoea SNOMEDCT_2005_07_31:56009001 Chlamydial conjunctivitis SNOMEDCT_2005_07_31:186733005 Chlamydial conjunctivitis SNOMEDCT_2005_07_31:266202002 A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. url:https://www.aarphealthcare.com/galecontent/inclusion-conjunctivitis-1 MTHICD9_2006:077.0 Paratrachoma pharyngoconjunctival fever A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. Adenoviral pharyngoconjunctivitis (disorder) DOID:13801 ICD9CM:077.2 MSH:D000258 NCI:C34924 Pharyngoconjunctival Fever Pharyngoconjunctival fever SNOMEDCT_US_2015_03_01:70385007 UMLS_CUI:C0031351 disease_ontology pharyngo-conjunctival fever NCI2004_11_17:C34924 Pharyngoconjunctival Fever Adenoviral pharyngoconjunctivitis (disorder) SNOMEDCT_2005_07_31:70385007 A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. url:http://emedicine.medscape.com/article/1192323-overview url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever ICD9CM_2006:077.2 Pharyngoconjunctival fever familial combined hyperlipidemia DOID:13809 ICD10CM:E78.4 MSH:D006950 OMIM mapping confirmed by DO. [SN]. OMIM:144250 SNOMEDCT_US_2015_03_01:154742006 SNOMEDCT_US_2015_03_01:190780005 SNOMEDCT_US_2015_03_01:238040008 SNOMEDCT_US_2015_03_01:299465007 SNOMEDCT_US_2015_03_01:48190005 UMLS_CUI:C0020474 disease_ontology familial combined hyperlipidemia (disorder) familial combined hyperlipidemia (disorder) [Ambiguous] familial multiple lipoprotein-type hyperlipidemia (disorder) hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia mixed hyperlipidemia mixed hyperlipidemia (disorder) type IIb hyperlipoproteinemia SNOMEDCT_2005_07_31:190780005 mixed hyperlipidaemia ICD9CM_2006:272.2 mixed hyperlipidemia SNOMEDCT_2005_07_31:299465007 familial multiple lipoprotein-type hyperlipidemia (disorder) NCI2004_11_17:C34821 mixed hyperlipidemia SNOMEDCT_2005_07_31:154742006 mixed hyperlipidaemia SNOMEDCT_2005_07_31:267434003 mixed hyperlipidemia (disorder) MTHICD9_2006:272.2 hyperbetalipoproteinemia with prebetalipoproteinemia NCI2004_11_17:C34708 type IIb hyperlipoproteinemia SNOMEDCT_2005_07_31:238040008 familial combined hyperlipidemia (disorder) SNOMEDCT_2005_07_31:48190005 familial combined hyperlipidemia (disorder) [Ambiguous] fox fordyce disease DOID:1381 Fox-Fordyce disease Fox-Fordyce disease (disorder) ICD10CM:L75.2 ICD9CM:705.82 MSH:D005588 NCI:C84716 SNOMEDCT_US_2015_03_01:254682006 SNOMEDCT_US_2015_03_01:65038009 UMLS_CUI:C0016632 disease_ontology Fox-Fordyce disease (disorder) SNOMEDCT_2005_07_31:65038009 Fox-Fordyce disease ICD9CM_2006:705.82 familial hypercholesterolemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. DOID:13810 Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia ICD10CM:E78.0 MSH:D006938 NCI:C34704 OMIM:143890 OMIM:144400 ORDO:406 SNOMEDCT_US_2015_03_01:190772003 SNOMEDCT_US_2015_03_01:190773008 SNOMEDCT_US_2015_03_01:190775001 SNOMEDCT_US_2015_03_01:190776000 SNOMEDCT_US_2015_03_01:31654005 SNOMEDCT_US_2015_03_01:389985001 SNOMEDCT_US_2015_03_01:398036000 UMLS_CUI:C0020445 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia SNOMEDCT_2005_07_31:389985001 familial hyperbetalipoproteinaemia CSP2005:1849-4634 familial hypercholesteremia Fredrickson type IIa hyperlipoproteinemia MTHICD9_2006:272.0 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia SNOMEDCT_2005_07_31:190776000 familial hyperbetalipoproteinaemia Fredrickson type IIa lipidaemia SNOMEDCT_2005_07_31:190772003 NCI2004_11_17:C34704 type II hyperlipidemia chronic subinvolution of uterus DOID:13811 ICD9CM:621.1 SNOMEDCT_US_2015_03_01:198315005 SNOMEDCT_US_2015_03_01:53518003 UMLS_CUI:C0156370 chronic subinvolution of uterus (disorder) chronic subinvolution of uterus (disorder) [Ambiguous] disease_ontology SNOMEDCT_2005_07_31:53518003 chronic subinvolution of uterus (disorder) [Ambiguous] SNOMEDCT_2005_07_31:198315005 chronic subinvolution of uterus (disorder) adhesions of uterus Band of uterus DOID:13812 Intrauterine adhesions (disorder) Intrauterine adhesions [Ambiguous] Intrauterine synechiae Intrauterine synechiae (disorder) Intrauterine synechiae (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:301789000 SNOMEDCT_US_2015_03_01:31107007 SNOMEDCT_US_2015_03_01:361115000 SNOMEDCT_US_2015_03_01:367435001 UMLS_CUI:C0241593 adhesions of uterus (finding) disease_ontology SNOMEDCT_2005_07_31:301789000 adhesions of uterus (finding) Band of uterus MTHICD9_2006:621.5 Intrauterine adhesions (disorder) SNOMEDCT_2005_07_31:361115000 ICD9CM_2006:621.5 Intrauterine synechiae Intrauterine synechiae (disorder) SNOMEDCT_2005_07_31:367435001 Intrauterine synechiae (disorder) [Ambiguous] SNOMEDCT_2005_07_31:31107007 Intrauterine adhesions [Ambiguous] SNOMEDCT_2005_07_31:198327008 hypoglossal nerve disease DOID:13814 ICD10CM:G52.3 ICD9CM:352.5 MSH:D020437 NCI:C26954 SNOMEDCT_US_2015_03_01:24777009 UMLS_CUI:C0152181 disease_ontology disorder of 12th nerve disorder of XII nerve disorder of hypoglossal [12th] nerve disorder of hypoglossal nerve (disorder) SNOMEDCT_2005_07_31:24777009 disorder of hypoglossal nerve (disorder) NCI2004_11_17:C26954 disorder of XII nerve MTHICD9_2006:352.5 disorder of 12th nerve ICD9CM_2006:352.5 disorder of hypoglossal [12th] nerve single episode manic disease moderate degree DOID:13817 disease_ontology true single episode manic disorder mild degree DOID:13818 disease_ontology true lymphogranuloma venereum A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. Climatic or tropical bubo DOID:13819 Durand-Nicolas-Favre disease ICD10CM:A55 ICD9CM:099.1 Lymphogranuloma inguinale MSH:D008219 NCI:C26822 Poradenitis inguinale SNOMEDCT_US_2015_03_01:154391003 SNOMEDCT_US_2015_03_01:186946009 SNOMEDCT_US_2015_03_01:266213004 SNOMEDCT_US_2015_03_01:89427004 Strumous bubo UMLS_CUI:C0024286 disease_ontology Climatic or tropical bubo MTHICD9_2006:099.1 A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. url:http://emedicine.medscape.com/article/783971-overview#a0104 url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum miliaria DOID:1382 ICD10CM:L74.3 MSH:D008883 NCI:C34820 SNOMEDCT_US_2015_03_01:201196009 SNOMEDCT_US_2015_03_01:201411009 SNOMEDCT_US_2015_03_01:63951004 UMLS_CUI:C0026113 disease_ontology congenital pneumonia Congenital pneumonia (disorder) Congenital pneumonia NOS (disorder) DOID:13820 disease_ontology true Congenital pneumonia (disorder) SNOMEDCT_2005_07_31:78895009 Congenital pneumonia NOS (disorder) SNOMEDCT_2005_07_31:206291009 tetanic cataract DOID:13822 Hypocalcaemic cataract ICD9CM:366.42 NCI:C35068 SNOMEDCT_US_2015_03_01:193607003 SNOMEDCT_US_2015_03_01:68216000 Tetanic cataract UMLS_CUI:C0039613 disease_ontology Hypocalcaemic cataract SNOMEDCT_2005_07_31:68216000 SNOMEDCT_2005_07_31:193607003 Tetanic cataract ICD9CM_2006:366.42 Tetanic cataract parasitic eyelid infestation DOID:13823 ICD9CM:373.6 Parasitic eyelid infestation (disorder) Parasitic infestation of eyelid SNOMEDCT_US_2015_03_01:193922006 UMLS_CUI:C0155183 disease_ontology Parasitic eyelid infestation (disorder) SNOMEDCT_2005_07_31:193922006 ICD9CM_2006:373.6 Parasitic infestation of eyelid squamous blepharitis DOID:13825 ICD10CM:H01.02 ICD9CM:373.02 SNOMEDCT_US_2015_03_01:58912008 UMLS_CUI:C0155174 disease_ontology squamous blepharitis (disorder) SNOMEDCT_2005_07_31:58912008 squamous blepharitis (disorder) sweat gland disease DOID:1383 ICD10CM:L74 ICD10CM:L74.9 ICD9CM:705 ICD9CM:705.9 MSH:D013543 SNOMEDCT_US_2015_03_01:156413000 SNOMEDCT_US_2015_03_01:201209003 SNOMEDCT_US_2015_03_01:88232005 UMLS_CUI:C0038986 disease_ontology patent ductus arteriosus DOID:13832 ICD10CM:Q25.0 ICD9CM:747.0 MSH:D004374 NCI:C84492 OMIM mapping confirmed by DO. [SN]. OMIM:607411 Patent ductus Botalli SNOMEDCT_US_2015_03_01:156928009 SNOMEDCT_US_2015_03_01:83330001 UMLS_CUI:C0013274 disease_ontology ductus arteriosus, Patent MTHICD9_2006:747.0 Patent ductus Botalli convergence excess or spasm DOID:13837 disease_ontology true extrapyramidal and movement disease DOID:13839 ICD10CM:G20-G26 ICD10CM:G25.9 ICD9CM:333.90 SNOMEDCT_US_2015_03_01:192866001 SNOMEDCT_US_2015_03_01:194467002 UMLS_CUI:C0477355 disease_ontology Chlamydia trachomatis urethritis Chlamydial infection of lower genitourinary tract (disorder) Chlamydial urethritis (disorder) DOID:12004 DOID:1384 NGU due to Chlamydia trachomatis Nongonococcal urethritis due to Chlamydia trachomatis (disorder) disease_ontology true Chlamydial infection of lower genitourinary tract (disorder) SNOMEDCT_2005_07_31:186729003 Nongonococcal urethritis due to Chlamydia trachomatis (disorder) SNOMEDCT_2005_07_31:246832008 MTHICD9_2006:099.41 NGU due to Chlamydia trachomatis Chlamydial urethritis (disorder) SNOMEDCT_2005_07_31:236683007 suppressed lactation - delivered DOID:13844 Suppressed lactation - delivered (disorder) Suppressed lactation, with delivery, with or without mention of antepartum condition disease_ontology true ICD9CM_2006:676.51 Suppressed lactation, with delivery, with or without mention of antepartum condition SNOMEDCT_2005_07_31:200439000 Suppressed lactation - delivered (disorder) suppressed lactation DOID:13845 disease_ontology true acquired hallux varus DOID:13850 Hallux varus (acquired) Hallux varus - acquired acquired hallux varus (disorder) disease_ontology true SNOMEDCT_2005_07_31:16123003 acquired hallux varus (disorder) Hallux varus (acquired) ICD9CM_2006:735.1 Hallux varus - acquired SNOMEDCT_2005_07_31:156854000 abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). DOID:1386 ICD10CM:E78.6 MSH:D000012 NCI:C84525 OMIM mapping confirmed by DO. [SN]. OMIM:200100 SNOMEDCT_US_2015_03_01:190787008 SNOMEDCT_US_2015_03_01:83123000 UMLS_CUI:C0000744 disease_ontology familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease MTHICD9_2006:272.5 familial hypobetalipoproteinemia CSP2005:1849-5137 microsomal triglyceride transfer protein deficiency disease A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). url:http://en.wikipedia.org/wiki/Abetalipoproteinemia url:http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14 scleroperikeratitis DOID:13861 ICD10CM:H15.04 ICD9CM:379.05 SNOMEDCT_US_2015_03_01:42574005 Scleritis with corneal involvement Scleritis with corneal involvement (disorder) UMLS_CUI:C0155355 disease_ontology SNOMEDCT_2005_07_31:42574005 Scleritis with corneal involvement (disorder) ICD9CM_2006:379.05 Scleritis with corneal involvement acute closed-angle glaucoma DOID:13862 ICD10CM:H40.21 ICD9CM:365.22 SNOMEDCT_US_2015_03_01:30041005 UMLS_CUI:C0154946 acute angle-closure glaucoma acute angle-closure glaucoma (disorder) disease_ontology ICD9CM_2006:365.22 acute angle-closure glaucoma SNOMEDCT_2005_07_31:30041005 acute angle-closure glaucoma (disorder) trochlear nerve disease DOID:13864 ICD10CM:H49.1 ICD9CM:378.53 MSH:D020432 NCI:C78395 SNOMEDCT_US_2015_03_01:14904006 SNOMEDCT_US_2015_03_01:20610004 SNOMEDCT_US_2015_03_01:230532006 SNOMEDCT_US_2015_03_01:246781001 SNOMEDCT_US_2015_03_01:67883005 SNOMEDCT_US_2015_03_01:6845000 Superior oblique muscle innervation disorder Trochlear nerve disorder, NOS UMLS_CUI:C0271375 UMLS_CUI:C0423092 UMLS_CUI:C0751939 disease_ontology disorder of trochlear nerve SNOMEDCT_2005_07_31:14904006 Trochlear nerve disorder, NOS SNOMEDCT_2005_07_31:230532006 disorder of trochlear nerve SNOMEDCT_2005_07_31:20610004 disorder of trochlear nerve SNOMEDCT_2005_07_31:6845000 Superior oblique muscle innervation disorder facial neuralgia DOID:13865 MSH:D005156 SNOMEDCT_US_2015_03_01:4151000119102 UMLS_CUI:C0015467 disease_ontology multiple cranial nerve palsy DOID:13866 ICD10CM:G52.7 ICD9CM:352.6 Multiple cranial nerve palsies Multiple cranial nerve palsies (disorder) Multiple cranial nerve palsies NOS (disorder) Multiple cranial nerve palsy (disorder) SNOMEDCT_US_2015_03_01:193100000 SNOMEDCT_US_2015_03_01:193103003 SNOMEDCT_US_2015_03_01:78152008 UMLS_CUI:C0154733 disease_ontology ICD9CM_2006:352.6 Multiple cranial nerve palsies Multiple cranial nerve palsy (disorder) SNOMEDCT_2005_07_31:78152008 Multiple cranial nerve palsies NOS (disorder) SNOMEDCT_2005_07_31:193103003 Multiple cranial nerve palsies (disorder) SNOMEDCT_2005_07_31:193100000 focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. Circumscribed labyrinthitis Circumscribed labyrinthitis (disorder) DOID:13867 ICD9CM:386.32 SNOMEDCT_US_2015_03_01:194364005 SNOMEDCT_US_2015_03_01:61794006 UMLS_CUI:C0155505 disease_ontology Circumscribed labyrinthitis SNOMEDCT_2005_07_31:194364005 Circumscribed labyrinthitis (disorder) SNOMEDCT_2005_07_31:61794006 Circumscribed labyrinthitis ICD9CM_2006:386.32 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. url:http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false hypoactive sexual desire disorder DOID:13868 ICD10CM:F52.0 ICD9CM:302.71 Lack or loss of sexual desire MSH:D020018 NCI:C94337 SNOMEDCT_US_2015_03_01:112096004 SNOMEDCT_US_2015_03_01:192464008 SNOMEDCT_US_2015_03_01:270903007 SNOMEDCT_US_2015_03_01:78889008 UMLS_CUI:C0020594 disease_ontology Lack or loss of sexual desire SNOMEDCT_2005_07_31:192464008 psychosexual dysfunction with male orgasmic disease DOID:13869 disease_ontology true hypolipoproteinemia DOID:1387 Hypolipoproteinaemia (disorder) ICD10CM:E78.6 ICD9CM:272.5 Lipoprotein deficiencies MSH:D007009 SNOMEDCT_US_2015_03_01:190783007 SNOMEDCT_US_2015_03_01:190788003 SNOMEDCT_US_2015_03_01:267436001 SNOMEDCT_US_2015_03_01:363140000 UMLS_CUI:C0020623 disease_ontology Hypolipoproteinaemia (disorder) SNOMEDCT_2005_07_31:363140000 ICD9CM_2006:272.5 Lipoprotein deficiencies Tangier disease DOID:1388 ICD10CM:E78.6 MSH:D013631 NCI:C85182 OMIM mapping confirmed by DO. [LS]. OMIM:205400 SNOMEDCT_US_2015_03_01:15346004 SNOMEDCT_US_2015_03_01:190783007 UMLS_CUI:C0039292 disease_ontology familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency familial hypoalphalipoproteinemia SNOMEDCT_2005_07_31:15346004 familial hypoalphalipoproteinemia CSP2005:1849-5194 familial high density lipoprotein deficiency sick sinus syndrome DOID:13884 ICD10CM:I49.5 MSH:D012804 NCI:C62244 OMIM:163800 OMIM:608567 OMIM:614090 ORDO:166282 SNOMEDCT_US_2015_03_01:155373001 SNOMEDCT_US_2015_03_01:266307005 SNOMEDCT_US_2015_03_01:36083008 UMLS_CUI:C0037052 Xref MGI. disease_ontology sinus node infection residual chronic schizophrenia DOID:13887 Residual schizophrenia, chronic state chronic residual schizophrenia (disorder) disease_ontology true SNOMEDCT_2005_07_31:71103003 chronic residual schizophrenia (disorder) ICD9CM_2006:295.62 Residual schizophrenia, chronic state polyneuropathy DOID:1389 ICD10CM:A69.22 ICD10CM:G62.9 MSH:D011115 NCI:C26951 Polyneuropathy (disorder) Polyneuropathy unspecified Polyneuropathy unspecified (disorder) Polyneuropathy, unspecified (disorder) SNOMEDCT_US_2015_03_01:155080009 SNOMEDCT_US_2015_03_01:193166009 SNOMEDCT_US_2015_03_01:193204000 SNOMEDCT_US_2015_03_01:194530007 SNOMEDCT_US_2015_03_01:267706009 SNOMEDCT_US_2015_03_01:307326004 SNOMEDCT_US_2015_03_01:42345000 UMLS_CUI:C0152025 disease_ontology Polyneuropathy unspecified (disorder) SNOMEDCT_2005_07_31:307326004 Polyneuropathy (disorder) SNOMEDCT_2005_07_31:42345000 Polyneuropathy unspecified SNOMEDCT_2005_07_31:193204000 Polyneuropathy, unspecified (disorder) SNOMEDCT_2005_07_31:194530007 bird fancier's lung An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. Avian hypersensitivity Pneumonitis Bird-fancier's lung NOS (disorder) Bird-fanciers' lung Bird-fanciers' lung (disorder) DOID:13891 ICD10CM:J67.2 ICD9CM:495.2 MSH:D001716 NCI:C34425 SNOMEDCT_US_2015_03_01:195987000 SNOMEDCT_US_2015_03_01:69339004 UMLS_CUI:C0005592 bird breeder's lung bird fancier lung disease_ontology pigeon breeder's lung poultry worker's lung Bird-fanciers' lung ICD9CM_2006:495.2 An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf Bird-fancier's lung NOS (disorder) SNOMEDCT_2005_07_31:195987000 CSP2005:2596-6673 bird breeder's lung Bird-fanciers' lung (disorder) SNOMEDCT_2005_07_31:69339004 Avian hypersensitivity Pneumonitis NCI2004_11_17:C34425 squamous cell papilloma DOID:139 Epidermoid papilloma MSH:D010212 NCI:C3712 SNOMEDCT_US_2015_03_01:63451008 UMLS_CUI:C0205874 disease_ontology squamous cell papilloma (morphologic abnormality) Epidermoid papilloma NCI2004_11_17:C3712 SNOMEDCT_2005_07_31:63451008 squamous cell papilloma (morphologic abnormality) hypobetalipoproteinemia DOID:1390 Hypo-beta-lipoproteinemia (disorder) MSH:D006995 SNOMEDCT_US_2015_03_01:190786004 UMLS_CUI:C0020597 disease_ontology Hypo-beta-lipoproteinemia (disorder) SNOMEDCT_2005_07_31:190786004 white piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. DOID:13902 ICD10CM:B36.2 ICD9CM:111.2 MSH:D010854 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:35586003 SNOMEDCT_US_2015_03_01:402135006 Tinea blanca UMLS_CUI:C0031898 UMLS_CUI:C0040249 White piedra (disorder) disease_ontology A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. url:http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/ ICD9CM_2006:111.2 Tinea blanca SNOMEDCT_2005_07_31:35586003 White piedra (disorder) malignant pleural effusion DOID:13906 disease_ontology malignant Pleural Effusion malignant pleural effusion neoplastic pleural effusion (disorder) true NCI2004_11_17:C9432 malignant Pleural Effusion SNOMEDCT_2005_07_31:196095009 malignant pleural effusion SNOMEDCT_2005_07_31:83270006 neoplastic pleural effusion (disorder) red-green color blindness DOID:13909 Deutan defect Deuteranopia ICD10CM:H53.53 ICD9CM:368.52 MSH:D003117 OMIM:303800 ORDO:319698 Reduced red-green discrimination (finding) SNOMEDCT_US_2015_03_01:246674000 SNOMEDCT_US_2015_03_01:77479002 UMLS_CUI:C0155016 Xref MGI. disease_ontology Deuteranopia MTHICD9_2006:368.52 Deutan defect ICD9CM_2006:368.52 Reduced red-green discrimination (finding) SNOMEDCT_2005_07_31:246674000 Norum disease DOID:1391 ICD10CM:E78.6 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY MSH:D007863 NCI:C84813 OMIM mapping confirmed by DO. [SN]. OMIM:245900 SNOMEDCT_US_2015_03_01:238091006 SNOMEDCT_US_2015_03_01:49227001 UMLS_CUI:C0023195 disease_ontology lecithin acyltransferase deficiency CSP2005:1849-5422 lecithin acyltransferase deficiency red color blindness DOID:13910 ICD10CM:H53.54 ICD9CM:368.51 MSH:D003117 OMIM:303900 Protan defect Protan defect (disorder) Protanopia SNOMEDCT_US_2015_03_01:51445007 UMLS_CUI:C0155015 disease_ontology Protan defect (disorder) SNOMEDCT_2005_07_31:51445007 MTHICD9_2006:368.51 Protanopia ICD9CM_2006:368.51 Protan defect achromatopsia A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. ACHM DOID:13911 ICD10CM:H53.51 ICD9CM:368.54 MSH:D003117 Monochromatism NCI:C84528 OMIM:216900 OMIM:262300 OMIM:613856 SNOMEDCT_US_2015_03_01:56852002 UMLS_CUI:C0152200 disease_ontology OMIM:616517 ORDO:49382 MTHICD9_2006:368.54 Monochromatism A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. url:http://en.wikipedia.org/wiki/Achromatopsia url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 url:http://www.sciencedirect.com/science/article/pii/S0161642009010008 acquired color blindness DOID:13912 ICD10CM:H53.52 ICD9CM:368.55 MSH:D003117 SNOMEDCT_US_2015_03_01:71676008 UMLS_CUI:C0155018 acquired color vision deficiencies acquired color vision deficiency (disorder) disease_ontology ICD9CM_2006:368.55 acquired color vision deficiencies SNOMEDCT_2005_07_31:71676008 acquired color vision deficiency (disorder) lumbosacral plexus lesion DOID:13913 ICD9CM:353.1 Lumbosacral plexus lesion (disorder) Lumbosacral plexus lesions SNOMEDCT_US_2015_03_01:4062006 UMLS_CUI:C0154735 disease_ontology ICD9CM_2006:353.1 Lumbosacral plexus lesions Lumbosacral plexus lesion (disorder) SNOMEDCT_2005_07_31:4062006 somatization disorder A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. Briquet's disorder DOID:13918 ICD10CM:F45.0 ICD9CM:300.81 MSH:D013001 Polysomatising disorder SNOMEDCT_US_2015_03_01:154892001 SNOMEDCT_US_2015_03_01:191743005 SNOMEDCT_US_2015_03_01:192431008 SNOMEDCT_US_2015_03_01:397795007 SNOMEDCT_US_2015_03_01:397826007 SNOMEDCT_US_2015_03_01:397923000 SNOMEDCT_US_2015_03_01:60368009 SNOMEDCT_US_2015_03_01:9514005 Somatisation disorder UMLS_CUI:C0520482 disease_ontology Polysomatising disorder SNOMEDCT_2005_07_31:397795007 Briquet's disorder MTHICD9_2006:300.81 A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. url:http://en.wikipedia.org/wiki/Somatization_disorder SNOMEDCT_2005_07_31:192431008 Somatisation disorder irregular astigmatism DOID:13919 ICD10CM:H52.21 ICD9CM:367.22 Irregular astigmatism (disorder) SNOMEDCT_US_2015_03_01:47099006 UMLS_CUI:C0152194 disease_ontology Irregular astigmatism (disorder) SNOMEDCT_2005_07_31:47099006 pseudopapilledema DOID:1392 ICD9CM:377.24 MSH:C562401 OMIM mapping confirmed by DO. [SN]. OMIM:177800 Pseudopapilledema (disorder) SNOMEDCT_US_2015_03_01:57138009 UMLS_CUI:C0155300 disease_ontology Pseudopapilledema (disorder) SNOMEDCT_2005_07_31:57138009 bacterial esophagitis Bacterial Esophagitis Bacterial esophagitis (disorder) DOID:13921 NCI:C27106 SNOMEDCT_US_2015_03_01:235601001 UMLS_CUI:C0341108 disease_ontology Bacterial esophagitis (disorder) SNOMEDCT_2005_07_31:235601001 Bacterial Esophagitis NCI2004_11_17:C27106 eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. DOID:13922 EFO:0004232 ICD10CM:K20.0 ICD9CM:530.13 MSH:D057765 NCI:C27105 OMIM:610247 OMIM:613412 ORDO:73247 SNOMEDCT_US_2015_03_01:235599003 UMLS_CUI:C0341106 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An esophagitis characterized by inflammation involving eosinophils located_in esophagus. url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis acute psychogenic paranoid psychosis DOID:13923 acute paranoid reaction disease_ontology true SNOMEDCT_2005_07_31:191679009 acute paranoid reaction necrotizing ulcerative gingivitis (Vincent's angina) or (trench mouth) ANUG Angina - Vincents DOID:13924 DOID:2274 ICD10CM:A69.1 ICD9CM:101 MSH:D005892 NCI:C34637 SNOMEDCT_US_2015_03_01:154391003 SNOMEDCT_US_2015_03_01:171847006 SNOMEDCT_US_2015_03_01:172697005 SNOMEDCT_US_2015_03_01:173599005 SNOMEDCT_US_2015_03_01:186960006 SNOMEDCT_US_2015_03_01:186961005 SNOMEDCT_US_2015_03_01:186962003 SNOMEDCT_US_2015_03_01:186963008 SNOMEDCT_US_2015_03_01:186964002 SNOMEDCT_US_2015_03_01:240675006 SNOMEDCT_US_2015_03_01:266145002 SNOMEDCT_US_2015_03_01:266146001 SNOMEDCT_US_2015_03_01:266213004 SNOMEDCT_US_2015_03_01:278519005 SNOMEDCT_US_2015_03_01:30896000 SNOMEDCT_US_2015_03_01:399050001 SNOMEDCT_US_2015_03_01:707792000 Trench mouth UMLS_CUI:C0017575 UMLS_CUI:C1527368 Vincent angina Vincent's Angina Vincent's angina Vincent's angina - pharyngitis (disorder) Vincent's angina NOS Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivitis [Ambiguous] acute necrotising ulcerative gingivostomatitis acute necrotising ulcerative gingivostomatitis [Ambiguous] acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis (disorder) acute ulceromembranous gingivitis disease_ontology early acute necrotising gingivitis Angina - Vincents SNOMEDCT_2005_07_31:154391003 SNOMEDCT_2005_07_31:266213004 SNOMEDCT_2005_07_31:154391003 Trench mouth SNOMEDCT_2005_07_31:30896000 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:278519005 acute necrotising ulcerative gingivitis [Ambiguous] NCI2004_11_17:C34637 Vincent's Angina SNOMEDCT_2005_07_31:186964002 Vincent's angina NOS SNOMEDCT_2005_07_31:171847006 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:399050001 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:186961005 acute necrotising ulcerative gingivostomatitis ICD9CM_2006:101 SNOMEDCT_2005_07_31:171847006 SNOMEDCT_2005_07_31:186960006 SNOMEDCT_2005_07_31:30896000 SNOMEDCT_2005_07_31:399050001 Vincent's angina SNOMEDCT_2005_07_31:266213004 Trench mouth SNOMEDCT_2005_07_31:172697005 Vincent's disease SNOMEDCT_2005_07_31:186963008 Vincent's angina - pharyngitis (disorder) (Vincent's angina) or (trench mouth) SNOMEDCT_2005_07_31:186960006 SNOMEDCT_2005_07_31:173599005 acute necrotizing ulcerative gingivostomatitis (disorder) SNOMEDCT_2005_07_31:266145002 acute necrotising ulcerative gingivostomatitis [Ambiguous] MTHICD9_2006:101 Vincent's infection, any site SNOMEDCT_2005_07_31:186962003 acute necrotising ulcerative gingivitis SNOMEDCT_2005_07_31:240675006 early acute necrotising gingivitis lacrimal duct obstruction Blocked lacrimal canaliculus (finding) DOID:13929 MSH:D007767 NCI:C34757 Obstruction of lacrimal canaliculus (disorder) Obstruction of lacrimal ducts (disorder) SNOMEDCT_US_2015_03_01:246865000 SNOMEDCT_US_2015_03_01:416920000 SNOMEDCT_US_2015_03_01:95769009 UMLS_CUI:C0022906 disease_ontology Blocked lacrimal canaliculus (finding) SNOMEDCT_2005_07_31:246865000 Obstruction of lacrimal ducts (disorder) SNOMEDCT_2005_07_31:95769009 Obstruction of lacrimal canaliculus (disorder) SNOMEDCT_2005_07_31:416920000 visual pathway disease DOID:1393 ICD10CM:H47.9 NCI:C35342 SNOMEDCT_US_2015_03_01:155191004 SNOMEDCT_US_2015_03_01:194037001 SNOMEDCT_US_2015_03_01:267741008 SNOMEDCT_US_2015_03_01:267744000 SNOMEDCT_US_2015_03_01:54767005 UMLS_CUI:C0155287 disease_ontology visual pathway disorder facial paralysis DOID:13934 Facial Palsy ICD10CM:G51.0 MSH:D005158 NCI:C26769 SNOMEDCT_US_2015_03_01:155070005 SNOMEDCT_US_2015_03_01:267703001 SNOMEDCT_US_2015_03_01:280816001 SNOMEDCT_US_2015_03_01:46382007 SNOMEDCT_US_2015_03_01:79359001 SNOMEDCT_US_2015_03_01:90039006 UMLS_CUI:C0015469 disease_ontology Facial Palsy NCI2004_11_17:C26769 amenorrhea AMENORRHEA Amenorrhea (finding) Amenorrhea NOS (finding) Amenorrhoea Amenorrhoea NOS DOID:13938 ICD10CM:N91.2 ICD9CM:626.0 MSH:D000568 NCI:C61443 SNOMEDCT_US_2015_03_01:14302001 SNOMEDCT_US_2015_03_01:156034000 SNOMEDCT_US_2015_03_01:156037007 SNOMEDCT_US_2015_03_01:198414005 UMLS_CUI:C0002453 absence of menstruation amenia disease_ontology Amenorrhea (finding) SNOMEDCT_2005_07_31:14302001 ICD9CM_2006:626.0 absence of menstruation AMENORRHEA MTH:NOCODE Amenorrhoea SNOMEDCT_2005_07_31:156034000 Amenorrhoea NOS SNOMEDCT_2005_07_31:156037007 CSP2005:4001-0006 amenia Amenorrhea NOS (finding) SNOMEDCT_2005_07_31:198414005 urinary schistosomiasis A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. DOID:1394 ICD9CM:120.0 MSH:D012553 NCI:C35362 NCI:C39294 SNOMEDCT_US_2015_03_01:187112004 SNOMEDCT_US_2015_03_01:197846004 SNOMEDCT_US_2015_03_01:53991003 SNOMEDCT_US_2015_03_01:60979006 Schistosoma Hematobium Infection Schistosoma haematobium (& vesical schistosomiasis) Schistosoma haematobium infection Schistosoma hematobium infection (disorder) Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder [Ambiguous] UMLS_CUI:C0276926 Vesical schistosomiasis NOS bladder Schistosomiasis cystitis with bilharziasis (disorder) disease_ontology urinary schistosomiasis (disorder) SNOMEDCT_2005_07_31:187112004 Schistosoma haematobium (& vesical schistosomiasis) SNOMEDCT_2005_07_31:53991003 cystitis with bilharziasis (disorder) SNOMEDCT_2005_07_31:197846004 Schistosomiasis of bladder [Ambiguous] ICD9CM_2006:120.0 Schistosomiasis due to schistosoma haematobium NCI2004_11_17:C35362 bladder Schistosomiasis NCI2004_11_17:C39294 Schistosoma Hematobium Infection MTHICD9_2006:120.0 Vesical schistosomiasis NOS A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. url:http://en.wikipedia.org/wiki/Schistosoma_haematobium url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm SNOMEDCT_2005_07_31:236706006 urinary schistosomiasis (disorder) SNOMEDCT_2005_07_31:60979006 Schistosoma hematobium infection (disorder) benign paroxysmal positional nystagmus DOID:13941 ICD9CM:386.11 MSH:D065635 OMIM:193007 OMIM:613106 SNOMEDCT_US_2015_03_01:111541001 SNOMEDCT_US_2015_03_01:232285008 SNOMEDCT_US_2015_03_01:267763004 UMLS_CUI:C0155502 Xref MGI. OMIM mapping confirmed by DO. [SN]. benign paroxysmal positional vertigo disease_ontology ICD9CM_2006:386.11 benign paroxysmal positional vertigo acute gonococcal salpingitis DOID:13942 Gonococcal salpingitis, specified as acute ICD9CM:098.17 SNOMEDCT_US_2015_03_01:45377007 UMLS_CUI:C0275654 acute gonococcal salpingitis (disorder) disease_ontology Gonococcal salpingitis, specified as acute ICD9CM_2006:098.17 SNOMEDCT_2005_07_31:45377007 acute gonococcal salpingitis (disorder) acute gonococcal prostatitis DOID:13943 Gonococcal prostatitis Gonococcal prostatitis (acute) ICD9CM:098.12 SNOMEDCT_US_2015_03_01:111806005 UMLS_CUI:C0153192 acute gonococcal prostatitis (disorder) disease_ontology SNOMEDCT_2005_07_31:111806005 acute gonococcal prostatitis (disorder) Gonococcal prostatitis (acute) ICD9CM_2006:098.12 Gonococcal prostatitis MTHICD9_2006:098.12 cadasil DOID:13945 MSH:D046589 NCI:C84606 SNOMEDCT_US_2015_03_01:390723008 SNOMEDCT_US_2015_03_01:390936003 UMLS_CUI:C0751587 disease_ontology bladder neck obstruction DOID:13948 ICD10CM:N32.0 ICD9CM:596.0 MSH:D001748 NCI:C79541 Obstruction of bladder neck or vesicourethral orifice SNOMEDCT_US_2015_03_01:155887006 SNOMEDCT_US_2015_03_01:197859007 SNOMEDCT_US_2015_03_01:25220001 SNOMEDCT_US_2015_03_01:399072004 SNOMEDCT_US_2015_03_01:416991005 UMLS_CUI:C0005694 bladder neck obstruction (disorder) disease_ontology SNOMEDCT_2005_07_31:25220001 bladder neck obstruction (disorder) MTHICD9_2006:596.0 Obstruction of bladder neck or vesicourethral orifice SNOMEDCT_2005_07_31:399072004 bladder neck obstruction (disorder) interstitial cystitis DOID:13949 MSH:D018856 NCI:C27189 SNOMEDCT_US_2015_03_01:111409009 SNOMEDCT_US_2015_03_01:197834003 UMLS_CUI:C0282488 disease_ontology ulcerative cystitis (disorder) SNOMEDCT_2005_07_31:111409009 ulcerative cystitis (disorder) schistosomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. DOID:1395 ICD9CM:120.8 SNOMEDCT_US_2015_03_01:187116001 SNOMEDCT_US_2015_03_01:187121003 UMLS_CUI:C0029827 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. url:http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis uterine corpus epithelioid leiomyoma DOID:13951 NCI:C40164 UMLS_CUI:C1519850 disease_ontology uterine corpus dissecting leiomyoma DOID:13953 NCI:C40172 UMLS_CUI:C1519847 disease_ontology mitotically active variant uterine corpus leiomyoma DOID:13954 disease_ontology true uterus interstitial leiomyoma DOID:13955 ICD10CM:D25.1 ICD9CM:218.1 Intramural leiomyoma of uterus Intramural leiomyoma of uterus (disorder) SNOMEDCT_US_2015_03_01:93616000 UMLS_CUI:C0153994 disease_ontology ICD9CM_2006:218.1 Intramural leiomyoma of uterus Intramural leiomyoma of uterus (disorder) SNOMEDCT_2005_07_31:93616000 uterine corpus myxoid leiomyoma DOID:13956 NCI:C40166 UMLS_CUI:C1519860 disease_ontology uterine corpus lipoleiomyoma DOID:13957 NCI:C40168 UMLS_CUI:C1519856 disease_ontology uterine corpus bizarre leiomyoma DOID:13958 NCI:C40167 UMLS_CUI:C1519853 disease_ontology uterine Corpus Symplastic leiomyoma NCI2004_11_17:C40167 uterine Corpus Symplastic leiomyoma peripheral focal retinitis and retinochoroiditis DOID:13962 Focal retinitis and retinochoroiditis, peripheral disease_ontology peripheral focal retinitis AND retinochoroiditis (disorder) true Focal retinitis and retinochoroiditis, peripheral ICD9CM_2006:363.08 SNOMEDCT_2005_07_31:36535003 peripheral focal retinitis AND retinochoroiditis (disorder) nuclear senile cataract DOID:13963 ICD9CM:366.16 Nuclear senile cataract (disorder) SNOMEDCT_US_2015_03_01:193589009 SNOMEDCT_US_2015_03_01:46129005 Senile nuclear cataract (disorder) Senile nuclear sclerosis UMLS_CUI:C0271166 disease_ontology ICD9CM_2006:366.16 Senile nuclear sclerosis SNOMEDCT_2005_07_31:46129005 Senile nuclear cataract (disorder) Nuclear senile cataract (disorder) SNOMEDCT_2005_07_31:193589009 Morgagni cataract Cataract: [hypermature] or [Morgagni] DOID:13964 ICD9CM:366.18 Morgagnian cataract (disorder) Morgagnian cataract (finding) SNOMEDCT_US_2015_03_01:193591001 SNOMEDCT_US_2015_03_01:22315007 SNOMEDCT_US_2015_03_01:247065006 SNOMEDCT_US_2015_03_01:264443002 SNOMEDCT_US_2015_03_01:267626000 UMLS_CUI:C0152258 disease_ontology hypermature cataract hypermature cataract (disorder) hypermature cataract (disorder) [Ambiguous] Morgagnian cataract (finding) SNOMEDCT_2005_07_31:247065006 Morgagnian cataract (disorder) SNOMEDCT_2005_07_31:264443002 ICD9CM_2006:366.18 hypermature cataract SNOMEDCT_2005_07_31:267626000 hypermature cataract (disorder) Cataract: [hypermature] or [Morgagni] SNOMEDCT_2005_07_31:193591001 SNOMEDCT_2005_07_31:22315007 hypermature cataract (disorder) [Ambiguous] schizo-affective type schizophrenia subchronic state with acute exacerbation DOID:13969 disease_ontology true chronic orbital inflammation DOID:1397 ICD10CM:H05.1 ICD9CM:376.1 ICD9CM:376.10 SNOMEDCT_US_2015_03_01:194007005 SNOMEDCT_US_2015_03_01:194011004 SNOMEDCT_US_2015_03_01:44729001 UMLS_CUI:C0155261 Unspecified chronic inflammation of orbit (disorder) chronic inflammation of orbit (disorder) chronic inflammation of orbit NOS (disorder) chronic inflammation of orbit, unspecified chronic inflammatory disorder of orbit disease_ontology ICD9CM_2006:376.10 chronic inflammation of orbit, unspecified SNOMEDCT_2005_07_31:194007005 Unspecified chronic inflammation of orbit (disorder) SNOMEDCT_2005_07_31:44729001 chronic inflammation of orbit (disorder) ICD9CM_2006:376.1 chronic inflammatory disorder of orbit SNOMEDCT_2005_07_31:194011004 chronic inflammation of orbit NOS (disorder) schizo-affective type schizophrenia chronic state DOID:13970 disease_ontology true female breast lower-outer quadrant cancer DOID:13972 ICD10CM:C50.51 ICD9CM:174.5 SNOMEDCT_US_2015_03_01:188155002 UMLS_CUI:C0153553 disease_ontology malignant neoplasm of lower-outer quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188155002 malignant neoplasm of lower-outer quadrant of female breast (disorder) metastatic tumor to the brain stem DOID:13975 disease_ontology metastatic tumor to the Brainstem true NCI2004_11_17:C8550 metastatic tumor to the Brainstem peptic esophagitis DOID:13976 Esophagitis (& [reflux]) or esophageal reflux ICD9CM:530.11 MSH:D004942 Peptic esophagitis Peptic reflux disease (disorder) Reflux esophagitis Reflux oesophagitis SNOMEDCT_US_2015_03_01:155673008 SNOMEDCT_US_2015_03_01:196600005 SNOMEDCT_US_2015_03_01:266498005 SNOMEDCT_US_2015_03_01:54856001 SNOMEDCT_US_2015_03_01:57643001 UMLS_CUI:C0014869 disease_ontology reflux esophagitis Reflux oesophagitis SNOMEDCT_2005_07_31:196600005 ICD9CM_2006:530.11 Reflux esophagitis MTHICD9_2006:530.1 Peptic esophagitis Peptic reflux disease (disorder) SNOMEDCT_2005_07_31:57643001 CSP2005:1248-5846 reflux esophagitis Esophagitis (& [reflux]) or esophageal reflux SNOMEDCT_2005_07_31:266498005 Reflux oesophagitis SNOMEDCT_2005_07_31:54856001 Esophagitis (& [reflux]) or esophageal reflux SNOMEDCT_2005_07_31:155673008 primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. DOID:13978 DOID:13979 chronic pulmonary coccidioidomycosis desert fever disease_ontology true A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. url:http://emedicine.medscape.com/article/297976-overview CSP2005:1988-4353 desert fever parasitic infectious disease A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. DOID:11681 DOID:13509 DOID:1396 DOID:1398 DOID:1494 DOID:2114 DOID:2293 DOID:2922 DOID:3564 DOID:4191 DOID:886 DOID:948 DOID:9639 DOID:9644 Ectoparasitic disease ICD10CM:H44.12 ICD9CM:360.13 NCI:C34587 SNOMEDCT_US_2015_03_01:193273005 SNOMEDCT_US_2015_03_01:57100005 UMLS_CUI:C0014238 disease_ontology parasitemia A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 Ectoparasitic disease SNOMEDCT_2005_07_31:240876009 coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. DOID:13980 disease_ontology true A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. url:http://emedicine.medscape.com/article/297976-overview primary lacrimal atrophy DOID:1399 ICD9CM:375.13 SNOMEDCT_US_2015_03_01:17093002 SNOMEDCT_US_2015_03_01:193978007 UMLS_CUI:C0155229 disease_ontology cleidocranial dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. DOID:13994 ICD10CM:Q74.0 MSH:D002973 Marie-Sainton Disease NCI:C75020 OMIM:119600 OMIM:216330 ORDO:1452 SNOMEDCT_US_2015_03_01:240193006 SNOMEDCT_US_2015_03_01:65976001 UMLS_CUI:C0008928 Xref MGI. OMIM mapping confirmed by DO. [SN]. cleidocranial dysostosis disease_ontology An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia url:http://www.faces-cranio.org/Disord/CCD.htm url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm url:http://www.umm.edu/ency/article/001589.htm secondary malignant neoplasm to the small Intestine DOID:13995 disease_ontology true small intestine lymphoma DOID:13996 NCI:C4007 SNOMEDCT_US_2015_03_01:449074003 UMLS_CUI:C0278805 disease_ontology small intestinal Lymphoma NCI2004_11_17:C4007 small intestinal Lymphoma contact blepharoconjunctivitis Contact blepharoconjunctivitis (disorder) DOID:13999 ICD10CM:H10.53 ICD9CM:372.22 SNOMEDCT_US_2015_03_01:10813004 SNOMEDCT_US_2015_03_01:193872007 UMLS_CUI:C0155150 disease_ontology Contact blepharoconjunctivitis (disorder) SNOMEDCT_2005_07_31:10813004 lacrimal apparatus disease DOID:1400 ICD10CM:H04 ICD10CM:H04.9 ICD9CM:375 ICD9CM:375.9 MSH:D007766 NCI:C26809 SNOMEDCT_US_2015_03_01:155181005 SNOMEDCT_US_2015_03_01:155185001 SNOMEDCT_US_2015_03_01:194003009 SNOMEDCT_US_2015_03_01:267740009 SNOMEDCT_US_2015_03_01:31053003 UMLS_CUI:C0022904 disease_ontology rubeosis iridis DOID:14000 ICD10CM:H21.1 ICD9CM:364.42 SNOMEDCT_US_2015_03_01:51995000 UMLS_CUI:C0154916 disease_ontology diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder DOID:14001 Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder disease_ontology true Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder ICD9CM_2006:250.73 Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder MTHICD9_2006:250.73 thoracic aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta. DOID:14004 EFO:0004282 MSH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 SNOMEDCT_US_2015_03_01:155421001 SNOMEDCT_US_2015_03_01:433068007 UMLS_CUI:C0162872 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An aortic aneurysm that is located_in the thoracic aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm url:http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm splenic artery aneurysm DOID:14006 ICD9CM:442.83 SNOMEDCT_US_2015_03_01:70405009 UMLS_CUI:C0155747 disease_ontology alcoholic liver cirrhosis Alcoholic Cirrhosis Alcoholic cirrhosis of liver Alcoholic cirrhosis of liver (disorder) Alcoholic cirrhosis of liver (disorder) [Ambiguous] CSP:1754-7677 DOID:14018 ICD10CM:K70.3 ICD9CM:571.2 Laennec's cirrhosis Laennec's cirrhosis, alcoholic MSH:D008104 NCI:C34782 Portal Cirrhosis Portal cirrhosis Portal cirrhosis (disorder) Portal cirrhosis unspecified (disorder) SNOMEDCT_US_2015_03_01:155811002 SNOMEDCT_US_2015_03_01:197280008 SNOMEDCT_US_2015_03_01:235894003 SNOMEDCT_US_2015_03_01:266467008 SNOMEDCT_US_2015_03_01:420054005 SNOMEDCT_US_2015_03_01:75393009 UMLS_CUI:C0023891 disease_ontology Portal cirrhosis unspecified (disorder) SNOMEDCT_2005_07_31:197308000 Portal cirrhosis SNOMEDCT_2005_07_31:197290000 NCI2004_11_17:C35532 Portal Cirrhosis Alcoholic cirrhosis of liver (disorder) SNOMEDCT_2005_07_31:266467008 Alcoholic cirrhosis of liver (disorder) [Ambiguous] SNOMEDCT_2005_07_31:75393009 Laennec's cirrhosis, alcoholic MTHICD9_2006:571.2 Portal cirrhosis (disorder) SNOMEDCT_2005_07_31:235894003 Alcoholic Cirrhosis NCI2004_11_17:C34782 Laennec's cirrhosis SNOMEDCT_2005_07_31:197280008 Alcoholic cirrhosis of liver ICD9CM_2006:571.2 Alcoholic cirrhosis of liver SNOMEDCT_2005_07_31:155811002 Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. DOID:14019 ICD10CM:A23.3 ICD9CM:023.3 SNOMEDCT_US_2015_03_01:186308009 SNOMEDCT_US_2015_03_01:428174001 SNOMEDCT_US_2015_03_01:78576009 UMLS_CUI:C0494040 disease_ontology A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:http://www.ncbi.nlm.nih.gov/pubmed/1172954 agalactia DOID:1401 DOID:1402 Failure of lactation - delivered Failure of lactation - delivered (disorder) Failure of lactation, with delivery, with or without mention of antepartum condition disease_ontology true Failure of lactation, with delivery, with or without mention of antepartum condition ICD9CM_2006:676.41 Failure of lactation - delivered (disorder) SNOMEDCT_2005_07_31:200433004 Tietze's syndrome Costalchondritis (disorder) Costochondral junction syndrome Costochondritis Costochondritis NOS Costochondritis NOS (disorder) Costochrondritis DOID:14021 ICD10CM:M94.0 ICD9CM:733.6 MSH:D013991 SNOMEDCT_US_2015_03_01:156848001 SNOMEDCT_US_2015_03_01:203323007 SNOMEDCT_US_2015_03_01:203523006 SNOMEDCT_US_2015_03_01:203529005 SNOMEDCT_US_2015_03_01:240136001 SNOMEDCT_US_2015_03_01:268130001 SNOMEDCT_US_2015_03_01:30128009 SNOMEDCT_US_2015_03_01:393606005 SNOMEDCT_US_2015_03_01:64109004 SNOMEDCT_US_2015_03_01:91226007 Slipping rib syndrome Tietze syndrome Tietze's disease Tietze's disease (disorder) UMLS_CUI:C0040213 disease_ontology Costalchondritis (disorder) SNOMEDCT_2005_07_31:64109004 Costochondritis SNOMEDCT_2005_07_31:393606005 ICD9CM_2006:733.6 Tietze's disease Costochondritis NOS SNOMEDCT_2005_07_31:203529005 Costochondral junction syndrome MTHICD9_2006:733.6 Costochrondritis SNOMEDCT_2005_07_31:268130001 SNOMEDCT_2005_07_31:91226007 Slipping rib syndrome SNOMEDCT_2005_07_31:30128009 Tietze's disease (disorder) Costochrondritis SNOMEDCT_2005_07_31:156848001 Costochondritis SNOMEDCT_2005_07_31:203523006 Costochondritis NOS SNOMEDCT_2005_07_31:203323007 Costochondritis NOS (disorder) SNOMEDCT_2005_07_31:240136001 algoneurodystrophy Algoneurodystrophy (disorder) Algoneurodystrophy NOS (disorder) DOID:14022 ICD10CM:M89.0 ICD10CM:M89.00 ICD9CM:733.7 SNOMEDCT_US_2015_03_01:203490000 SNOMEDCT_US_2015_03_01:203496006 SNOMEDCT_US_2015_03_01:7359008 UMLS_CUI:C0205930 disease_ontology Algoneurodystrophy (disorder) SNOMEDCT_2005_07_31:7359008 Algoneurodystrophy NOS (disorder) SNOMEDCT_2005_07_31:203496006 folic acid deficiency anemia DOID:14026 Folate deficiency anemia NOS (disorder) Folate or folic acid deficiency anemia NOS Folate-deficiency anemia Folate-deficient megaloblastic anaemia ICD10CM:D52 ICD10CM:D52.9 ICD9CM:281.2 Megaloblastic anemia due to folate deficiency (disorder) SNOMEDCT_US_2015_03_01:154791000 SNOMEDCT_US_2015_03_01:191152006 SNOMEDCT_US_2015_03_01:85649008 UMLS_CUI:C0151482 disease_ontology Folate or folic acid deficiency anemia NOS MTHICD9_2006:281.2 Folate deficiency anemia NOS (disorder) SNOMEDCT_2005_07_31:191152006 Megaloblastic anemia due to folate deficiency (disorder) SNOMEDCT_2005_07_31:85649008 Folate-deficiency anemia ICD9CM_2006:281.2 Folate-deficient megaloblastic anaemia SNOMEDCT_2005_07_31:154791000 malignant parietal pleura tumor DOID:14032 SNOMEDCT_US_2015_03_01:93948004 UMLS_CUI:C0153495 disease_ontology primary malignant neoplasm of parietal pleura (disorder) SNOMEDCT_2005_07_31:93948004 primary malignant neoplasm of parietal pleura (disorder) malignant visceral pleura tumor DOID:14033 SNOMEDCT_US_2015_03_01:94140004 UMLS_CUI:C0153496 disease_ontology primary malignant neoplasm of visceral pleura (disorder) SNOMEDCT_2005_07_31:94140004 primary malignant neoplasm of visceral pleura (disorder) aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. Atresia and stenosis of aorta (disorder) Congenital atresia and stenosis of aorta DOID:14037 ICD9CM:747.22 SNOMEDCT_US_2015_03_01:204431007 SNOMEDCT_US_2015_03_01:204438001 UMLS_CUI:C0345010 disease_ontology Congenital atresia and stenosis of aorta ICD9CM_2006:747.22 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. url:https://secure.ssa.gov/poms.nsf/lnx/0423022540 Atresia and stenosis of aorta (disorder) SNOMEDCT_2005_07_31:204431007 precocious puberty (Sexual precocity NOS) or (puberty - precocious) DOID:14038 Precocious puberty Precocious puberty (disorder) Precocious sexual development (disorder) Precocious true puberty Premature puberty Sexual precocity NOS disease_ontology precocious puberty true Precocious puberty SNOMEDCT_2005_07_31:190575003 Premature puberty SNOMEDCT_2005_07_31:190576002 MTHICD9_2006:259.1 Sexual precocity NOS Precocious sexual development (disorder) SNOMEDCT_2005_07_31:123527003 Precocious puberty (disorder) SNOMEDCT_2005_07_31:400179000 CSP2005:2586-8869 precocious puberty (Sexual precocity NOS) or (puberty - precocious) SNOMEDCT_2005_07_31:154716006 Precocious true puberty SNOMEDCT_2005_07_31:70387004 (Sexual precocity NOS) or (puberty - precocious) SNOMEDCT_2005_07_31:267488008 POEMS syndrome DOID:14039 MSH:D016878 NCI:C80303 POEMS syndrome (disorder) SNOMEDCT_US_2015_03_01:79268002 UMLS_CUI:C0085404 disease_ontology POEMS syndrome (disorder) SNOMEDCT_2005_07_31:79268002 residual stage angle-closure glaucoma DOID:1404 ICD10CM:H40.24 ICD9CM:365.24 Residual stage angle-closure glaucoma (disorder) Residual stage of angle-closure glaucoma SNOMEDCT_US_2015_03_01:55129006 UMLS_CUI:C0154948 disease_ontology ICD9CM_2006:365.24 Residual stage of angle-closure glaucoma Residual stage angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:55129006 autoimmune polyendocrine syndrome An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. Autoimmune polyglandular failure DOID:14040 ICD10CM:E31.0 Lloyd's syndrome MSH:D016884 NCI:C84576 SNOMEDCT_US_2015_03_01:18947001 SNOMEDCT_US_2015_03_01:190567009 SNOMEDCT_US_2015_03_01:190568004 SNOMEDCT_US_2015_03_01:41864002 UMLS_CUI:C0085409 autoimmune polyendocrinopathy disease_ontology An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. sn:IEDB Lloyd's syndrome SNOMEDCT_2005_07_31:190567009 Lloyd's syndrome SNOMEDCT_2005_07_31:18947001 Lloyd's syndrome MTHICD9_2006:258.1 Autoimmune polyglandular failure SNOMEDCT_2005_07_31:190568004 endocrine tuberculosis DOID:14041 disease_ontology true bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. DOID:14042 ICD9CM:296.50 SNOMEDCT_US_2015_03_01:49468007 UMLS_CUI:C0236773 disease_ontology A bipolar disorder that is characterized by at least one manic or mixed episode. url:http://en.wikipedia.org/wiki/Bipolar_I neonatal myasthenia gravis DOID:14043 ICD9CM:775.2 MSH:D020941 Neonatal Myasthenia Gravis Neonatal myasthenia gravis Neonatal myasthenia gravis (disorder) SNOMEDCT_US_2015_03_01:82178003 UMLS_CUI:C0158982 disease_ontology MTH:NOCODE Neonatal Myasthenia Gravis Neonatal myasthenia gravis (disorder) SNOMEDCT_2005_07_31:82178003 ICD9CM_2006:775.2 Neonatal myasthenia gravis rheumatic pericarditis DOID:14044 acute Rheumatic Pericarditis acute Rheumatic fever with pericarditis acute rheumatic pericarditis acute rheumatic pericarditis (disorder) disease_ontology true MTHICD9_2006:391.0 acute Rheumatic fever with pericarditis SNOMEDCT_2005_07_31:15676002 acute rheumatic pericarditis (disorder) ICD9CM_2006:391.0 acute rheumatic pericarditis SNOMEDCT_2005_07_31:155267004 acute rheumatic pericarditis NCI2004_11_17:C35200 acute Rheumatic Pericarditis syndrome of infant of a diabetic mother DOID:14045 Infant of a diabetic mother syndrome disease_ontology syndrome of infant of diabetic mother (disorder) true Infant of a diabetic mother syndrome SNOMEDCT_2005_07_31:157144007 SNOMEDCT_2005_07_31:21584002 syndrome of infant of diabetic mother (disorder) phaeohyphomycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. DOID:14049 Infection by dematiacious fungi Infection by dematiacious fungi [Phaehyphomycosis] disease_ontology phaehyphomycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. url:http://www.doctorfungus.org/mycoses/human/other/phaeohyphomycosis.htm url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Phaeohyphomycosis/ url:http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract Infection by dematiacious fungi MTHICD9_2006:117.8 ICD9CM_2006:117.8 Infection by dematiacious fungi [Phaehyphomycosis] primary angle-closure glaucoma DOID:1405 ICD10CM:H40.2 ICD10CM:H40.20 ICD9CM:365.2 ICD9CM:365.20 NCI:C34640 SNOMEDCT_US_2015_03_01:155123006 SNOMEDCT_US_2015_03_01:193544008 SNOMEDCT_US_2015_03_01:193545009 SNOMEDCT_US_2015_03_01:193547001 SNOMEDCT_US_2015_03_01:270882001 SNOMEDCT_US_2015_03_01:392288006 SNOMEDCT_US_2015_03_01:42456004 UMLS_CUI:C0017606 Unspecified primary angle-closure glaucoma (disorder) disease_ontology primary Angle Closure Glaucoma primary angle-closure glaucoma (disorder) primary angle-closure glaucoma NOS (disorder) primary angle-closure glaucoma, NOS primary angle-closure glaucoma, unspecified SNOMEDCT_2005_07_31:270882001 primary angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:392288006 primary angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:193547001 primary angle-closure glaucoma NOS (disorder) NCI2004_11_17:C34640 primary Angle Closure Glaucoma ICD9CM_2006:365.20 primary angle-closure glaucoma, unspecified SNOMEDCT_2005_07_31:193545009 Unspecified primary angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:42456004 primary angle-closure glaucoma, NOS rheumatic endocarditis DOID:14056 DOID:14057 Endocarditis-RH chronic Rheumatic disease of endocardium, valve unspecified Rheumatic endocarditis (disorder) Rheumatic endocarditis NOS Rheumatic endocarditis NOS (disorder) acute Rheumatic Endocarditis acute rheumatic endocarditis acute rheumatic endocarditis (disorder) disease_ontology rheumatic endocarditis true Rheumatic endocarditis NOS (disorder) SNOMEDCT_2005_07_31:266227009 SNOMEDCT_2005_07_31:18192007 acute rheumatic endocarditis (disorder) ICD9CM_2006:397.9 Rheumatic disease of endocardium, valve unspecified NCI2004_11_17:C35201 acute Rheumatic Endocarditis Rheumatic endocarditis (disorder) SNOMEDCT_2005_07_31:48872007 ICD9CM_2006:391.1 acute rheumatic endocarditis Endocarditis-RH chronic SNOMEDCT_2005_07_31:266284004 CSP2005:1393-3487 rheumatic endocarditis SNOMEDCT_2005_07_31:155268009 acute rheumatic endocarditis Rheumatic endocarditis NOS SNOMEDCT_2005_07_31:194748000 paraurethral gland cancer DOID:14059 ICD10CM:C68.1 ICD9CM:189.4 SNOMEDCT_US_2015_03_01:363460002 SNOMEDCT_US_2015_03_01:93944002 UMLS_CUI:C0153621 disease_ontology malignant tumor of paraurethral gland (disorder) malignant tumor of the Paraurethral gland NCI2004_11_17:C3561 malignant tumor of the Paraurethral gland SNOMEDCT_2005_07_31:363460002 malignant tumor of paraurethral gland (disorder) iritis DOID:1406 MSH:D007500 NCI:C50621 SNOMEDCT_US_2015_03_01:65074000 UMLS_CUI:C0022081 disease_ontology acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis DOID:14063 disease_ontology true acute poststreptococcal glomerulonephritis DOID:14064 NCI:C35443 Post-Streptococcal Glomerulonephritis SNOMEDCT_US_2015_03_01:68544003 UMLS_CUI:C0403414 acute post-streptococcal glomerulonephritis (disorder) disease_ontology SNOMEDCT_2005_07_31:68544003 acute post-streptococcal glomerulonephritis (disorder) NCI2004_11_17:C35443 Post-Streptococcal Glomerulonephritis acute diffuse nephritis DOID:14066 NCI:C35587 SNOMEDCT_US_2015_03_01:197585004 UMLS_CUI:C0341689 acute Diffuse Glomerulonephritis acute diffuse nephritis (disorder) disease_ontology NCI2004_11_17:C35587 acute Diffuse Glomerulonephritis SNOMEDCT_2005_07_31:197585004 acute diffuse nephritis (disorder) Plasmodium falciparum malaria A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. DOID:14067 Falciparum Malaria Falciparum malaria (disorder) Falciparum malaria [malignant tertian] ICD10CM:B50 ICD10CM:B50.9 ICD9CM:084.0 MSH:D016778 Malaria fever, subtertian NCI:C34798 Plasmodium falciparum malaria, unspecified Plasmodium falciparum malaria, unspecified (disorder) SNOMEDCT_US_2015_03_01:186802002 SNOMEDCT_US_2015_03_01:187504004 SNOMEDCT_US_2015_03_01:248441000 SNOMEDCT_US_2015_03_01:62676009 UMLS_CUI:C0024535 disease_ontology malignant tertian fever (finding) Falciparum Malaria NCI2004_11_17:C34798 A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria Falciparum malaria [malignant tertian] ICD9CM_2006:084.0 MTHICD9_2006:084.0 Malaria fever, subtertian Falciparum malaria (disorder) SNOMEDCT_2005_07_31:62676009 SNOMEDCT_2005_07_31:248441000 malignant tertian fever (finding) Plasmodium falciparum malaria, unspecified (disorder) SNOMEDCT_2005_07_31:187504004 Plasmodium falciparum malaria, unspecified SNOMEDCT_2005_07_31:186802002 blackwater fever A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. Black water fever (disorder) Blackwater fever DOID:14068 Hemoglobinuric, malaria ICD9CM:084.8 MSH:D001742 Malarial Hemoglobinuria NCI:C34426 SNOMEDCT_US_2015_03_01:56625005 UMLS_CUI:C0005681 disease_ontology A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. url:http://en.wikipedia.org/wiki/Blackwater_fever url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever Hemoglobinuric, malaria MTHICD9_2006:084.8 Black water fever (disorder) SNOMEDCT_2005_07_31:56625005 Malarial Hemoglobinuria NCI2004_11_17:C34426 Blackwater fever ICD9CM_2006:084.8 cerebral malaria A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. Cerebral malaria Cerebral malaria (disorder) DOID:14069 ICD10CM:B50.0 MSH:D016779 Malarial encephalitis SNOMEDCT_US_2015_03_01:186799006 SNOMEDCT_US_2015_03_01:53622003 UMLS_CUI:C0024534 disease_ontology Cerebral malaria (disorder) SNOMEDCT_2005_07_31:53622003 A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. url:http://en.wikipedia.org/wiki/Malaria Cerebral malaria MTHICD9_2006:084.9 Malarial encephalitis SNOMEDCT_2005_07_31:186799006 anterior uveitis Anterior uveitis [Ambiguous] Anterior uveitis, NOS CSP:1114-9593 DOID:1407 MSH:D014606 NCI:C35109 SNOMEDCT_US_2015_03_01:193500005 SNOMEDCT_US_2015_03_01:231946008 SNOMEDCT_US_2015_03_01:410692006 SNOMEDCT_US_2015_03_01:77971008 UMLS_CUI:C0042165 disease_ontology Anterior uveitis [Ambiguous] SNOMEDCT_2005_07_31:231946008 Anterior uveitis, NOS SNOMEDCT_2005_07_31:77971008 vestibular nystagmus DOID:14070 ICD9CM:379.54 Nystagmus associated with disorder of the vestibular system Nystagmus associated with disorder of the vestibular system (disorder) SNOMEDCT_US_2015_03_01:46888001 UMLS_CUI:C0155379 disease_ontology ICD9CM_2006:379.54 Nystagmus associated with disorder of the vestibular system Nystagmus associated with disorder of the vestibular system (disorder) SNOMEDCT_2005_07_31:46888001 neoplastic pregnancy complications DOID:14072 disease_ontology true geniculate ganglionitis DOID:14075 Geniculate ganglionitis Geniculate ganglionitis (disorder) Geniculate ganglionitis NOS ICD10CM:G51.1 ICD9CM:351.1 MSH:D005155 SNOMEDCT_US_2015_03_01:155071009 SNOMEDCT_US_2015_03_01:267704007 SNOMEDCT_US_2015_03_01:72839009 UMLS_CUI:C0017407 disease_ontology Geniculate ganglionitis (disorder) SNOMEDCT_2005_07_31:72839009 Geniculate ganglionitis SNOMEDCT_2005_07_31:267704007 Geniculate ganglionitis ICD9CM_2006:351.1 Geniculate ganglionitis NOS MTHICD9_2006:351.1 Geniculate ganglionitis SNOMEDCT_2005_07_31:155071009 glucocorticoid-remediable aldosteronism DOID:14080 ICD10CM:E26.02 ICD9CM:255.11 MSH:C563177 OMIM mapping confirmed by DO. [SN]. OMIM:103900 SNOMEDCT_US_2015_03_01:237743003 UMLS_CUI:C1260386 disease_ontology toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. DOID:14081 ICD9CM:386.34 SNOMEDCT_US_2015_03_01:3344003 Toxic labyrinthitis (disorder) UMLS_CUI:C0155507 disease_ontology A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. url:http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/16448876 SNOMEDCT_2005_07_31:3344003 Toxic labyrinthitis (disorder) epicondylitis A bone inflammation disease that results_in inflammation located_in epicondyle. DOID:14087 DOID:14162 ICD10CM:M77.1 ICD9CM:726.32 Lateral epicondylitis MSH:D013716 NCI:C34589 NCI:C35067 SNOMEDCT_US_2015_03_01:156659008 SNOMEDCT_US_2015_03_01:202855006 SNOMEDCT_US_2015_03_01:24133009 SNOMEDCT_US_2015_03_01:268088003 SNOMEDCT_US_2015_03_01:73583000 UMLS_CUI:C0014488 UMLS_CUI:C0039516 andrel epicondylitis archer's elbow disease_ontology golfer's elbow hockey elbow medial epicondylitis shooter's elbow tennis elbow ICD9CM_2006:726.32 Lateral epicondylitis A bone inflammation disease that results_in inflammation located_in epicondyle. url:http://en.wikipedia.org/wiki/Epicondylitis root caries Cementum caries (disorder) DOID:14089 Dental caries of root surface ICD9CM:521.08 MSH:D017213 Root caries SNOMEDCT_US_2015_03_01:234975001 SNOMEDCT_US_2015_03_01:30512007 UMLS_CUI:C0162644 disease_ontology Dental caries of root surface ICD9CM_2006:521.08 Cementum caries (disorder) SNOMEDCT_2005_07_31:30512007 Root caries SNOMEDCT_2005_07_31:234975001 heartwater disease DOID:14090 Heartwater (disorder) disease_ontology true Heartwater (disorder) SNOMEDCT_2005_07_31:73896008 renal artery atheroma Atherosclerosis of renal artery Atherosclerosis of renal artery (disorder) DOID:14092 ICD10CM:I70.1 ICD9CM:440.1 SNOMEDCT_US_2015_03_01:155416004 SNOMEDCT_US_2015_03_01:45281005 UMLS_CUI:C0155734 disease_ontology renal atherosclerosis SNOMEDCT_2005_07_31:155416004 renal atherosclerosis Atherosclerosis of renal artery (disorder) SNOMEDCT_2005_07_31:45281005 Atherosclerosis of renal artery ICD9CM_2006:440.1 boutonneuse fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. African tick typhus (disorder) Boutonneuse disease Conor and Bruch's disease DOID:0050039 DOID:0050040 DOID:0050044 DOID:0050045 DOID:14095 ICD10CM:A77.1 ICD9CM:082.1 Kenya fever Kenyan tick typhus MSH:D001907 Mediterranean spotted fever Mediterranean tick fever Rickettsia conorii spotted fever SNOMEDCT_US_2015_03_01:186774005 SNOMEDCT_US_2015_03_01:186778008 SNOMEDCT_US_2015_03_01:186779000 SNOMEDCT_US_2015_03_01:186780002 SNOMEDCT_US_2015_03_01:414658000 SNOMEDCT_US_2015_03_01:59742009 South African tick-bite fever (disorder) UMLS_CUI:C0006060 african tick typhus disease_ontology kenya tick typhus marseilles fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://en.wikipedia.org/wiki/Boutonneuse_fever url:http://www.cdc.gov/otherspottedfever/index.html African tick typhus (disorder) SNOMEDCT_2005_07_31:266118003 SNOMEDCT_2005_07_31:415561000 South African tick-bite fever (disorder) Kenyan tick typhus SNOMEDCT_2005_07_31:186774005 infertility due to extratesticular cause DOID:14096 ICD9CM:606.8 Infertility due to extratesticular cause (disorder) Infertility due to extratesticular cause NOS (finding) Infertility due to extratesticular causes SNOMEDCT_US_2015_03_01:198011008 SNOMEDCT_US_2015_03_01:198017007 SNOMEDCT_US_2015_03_01:84245004 UMLS_CUI:C0021360 disease_ontology ICD9CM_2006:606.8 Infertility due to extratesticular causes Infertility due to extratesticular cause NOS (finding) SNOMEDCT_2005_07_31:198017007 Infertility due to extratesticular cause (disorder) SNOMEDCT_2005_07_31:84245004 acquired gastric outlet stenosis DOID:14099 ICD9CM:537.0 SNOMEDCT_US_2015_03_01:13483000 UMLS_CUI:C0700588 acquired hypertrophic pyloric stenosis adult hypertrophic pyloric stenosis disease_ontology ICD9CM_2006:537.0 acquired hypertrophic pyloric stenosis SNOMEDCT_2005_07_31:155725009 adult hypertrophic pyloric stenosis De Quervain disease DOID:14107 ICD10CM:M65.4 ICD9CM:727.04 MSH:D053684 Radial styloid tenosynovitis SNOMEDCT_US_2015_03_01:123249005 SNOMEDCT_US_2015_03_01:154666006 SNOMEDCT_US_2015_03_01:156670001 SNOMEDCT_US_2015_03_01:190296009 SNOMEDCT_US_2015_03_01:202905002 SNOMEDCT_US_2015_03_01:21794005 SNOMEDCT_US_2015_03_01:268094006 Tenosynovitis, de Quervain's UMLS_CUI:C0149870 disease_ontology SNOMEDCT_2005_07_31:156670001 Tenosynovitis, de Quervain's ICD9CM_2006:727.04 Radial styloid tenosynovitis syphilitic peritonitis DOID:14108 disease_ontology true anus cancer A large intestine cancer that is located_in the anus. DOID:12240 DOID:14110 ICD10CM:C21.0 ICD10CM:C21.1 ICD9CM:154.2 ICD9CM:154.3 NCI:C7379 SNOMEDCT_US_2015_03_01:187762000 SNOMEDCT_US_2015_03_01:187764004 SNOMEDCT_US_2015_03_01:363352004 SNOMEDCT_US_2015_03_01:363490009 SNOMEDCT_US_2015_03_01:93669004 SNOMEDCT_US_2015_03_01:93676009 UMLS_CUI:C0153445 UMLS_CUI:C0153446 anal cancer disease_ontology malignant anal tumor NCI2004_11_17:C7379 malignant anal tumor A large intestine cancer that is located_in the anus. url:http://en.wikipedia.org/wiki/Anus median rhomboid glossitis DOID:14111 ICD10CM:K14.2 ICD9CM:529.2 Persistent tuberculum impar (disorder) SNOMEDCT_US_2015_03_01:7522008 UMLS_CUI:C0155963 disease_ontology Persistent tuberculum impar (disorder) SNOMEDCT_2005_07_31:7522008 congenital adhesion of tongue Congenital adhesions of tongue Congenital adhesions of tongue (disorder) DOID:14114 adhesions,tongue-congenital disease_ontology true Congenital adhesions of tongue (disorder) SNOMEDCT_2005_07_31:703000 SNOMEDCT_2005_07_31:268322005 adhesions,tongue-congenital Congenital adhesions of tongue ICD9CM_2006:750.12 toxic shock syndrome A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. DOID:14115 ICD10CM:A48.3 ICD9CM:040.82 MSH:D012772 NCI:C35498 SNOMEDCT_US_2015_03_01:18504008 TSS Toxic Shock syndrome Toxic shock syndrome Toxic shock syndrome (disorder) UMLS_CUI:C0600327 disease_ontology toxic shock A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. url:http://emedicine.medscape.com/article/169177-overview url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome SNOMEDCT_2005_07_31:18504008 Toxic shock syndrome (disorder) ICD9CM_2006:040.82 Toxic shock syndrome NCI2004_11_17:C35498 Toxic Shock syndrome CSP2005:0368-3426 TSS multiple symmetric lipomatosis DOID:14116 LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis MSH:D008069 Madelung's neck Multiple symmetric lipomatosis NCI:C4392 OMIM mapping confirmed by DO. [SN]. OMIM:151800 SNOMEDCT_US_2015_03_01:63365006 UMLS_CUI:C0024445 cervical Symmetrical Lipomatosis disease_ontology NCI2004_11_17:C4392 cervical Symmetrical Lipomatosis Multiple symmetric lipomatosis SNOMEDCT_2005_07_31:254832003 Launois-Bensaude's lipomatosis MTHICD9_2006:272.8 group A hyperlipidemia DOID:14117 LDL hyperlipoproteinemia Pure hypercholesterolaemia Pure hypercholesterolemia Pure hypercholesterolemia (disorder) Pure hypercholesterolemia NOS (disorder) disease_ontology hyperlipidemia, group A (disorder) true LDL hyperlipoproteinemia MTHICD9_2006:272.0 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:190772003 Pure hypercholesterolemia NOS (disorder) SNOMEDCT_2005_07_31:190778004 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:154740003 Pure hypercholesterolemia (disorder) SNOMEDCT_2005_07_31:267432004 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:267500001 ICD9CM_2006:272.0 Pure hypercholesterolemia SNOMEDCT_2005_07_31:190774002 hyperlipidemia, group A (disorder) familial lipoprotein lipase deficiency DOID:14118 Fredrickson type I hyperlipoproteinemia (disorder) Fredrickson type I lipaemia ICD10CM:E78.3 ICD9CM:272.3 MSH:D008072 NCI:C84771 OMIM mapping confirmed by DO. [SN]. OMIM:238600 SNOMEDCT_US_2015_03_01:190781009 SNOMEDCT_US_2015_03_01:238039006 SNOMEDCT_US_2015_03_01:238086005 SNOMEDCT_US_2015_03_01:267435002 SNOMEDCT_US_2015_03_01:275598004 SNOMEDCT_US_2015_03_01:34171006 SNOMEDCT_US_2015_03_01:403827000 UMLS_CUI:C0023817 disease_ontology familial LPL deficiency familial hyperchylomicronemia (disorder) familial hyperlipoproteinemia type I familial lipoprotein lipase deficiency (disorder) [Ambiguous] familial lipoprotein lipase deficiency with type I phenotype hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia SNOMEDCT_2005_07_31:267435002 familial hyperchylomicronemia (disorder) SNOMEDCT_2005_07_31:238039006 familial LPL deficiency CSP2005:1849-4577 familial hyperlipoproteinemia type I SNOMEDCT_2005_07_31:403827000 familial lipoprotein lipase deficiency with type I phenotype MTHICD9_2006:272.3 mixed hyperglyceridemia SNOMEDCT_2005_07_31:275598004 hypercholesterinaemic xanthomatosis Fredrickson type I lipaemia SNOMEDCT_2005_07_31:190781009 ICD9CM_2006:272.3 hyperchylomicronemia SNOMEDCT_2005_07_31:34171006 familial lipoprotein lipase deficiency (disorder) [Ambiguous] Fredrickson type I hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:238086005 bacteriuria A urinary system disease which consists of the presence of bacteria in urine. CSP:3045-9976 DOID:1412 HP:0012461 MEDDRA:10004056 MSH:D001437 SNOMEDCT_US_2015_03_01:61373006 UMLS_CUI:C0004659 disease_ontology A urinary system disease which consists of the presence of bacteria in urine. url:http://en.wikipedia.org/wiki/Bacteriuria blue toe syndrome DOID:14121 MSH:D018438 UMLS_CUI:C0242645 disease_ontology abducens nerve neoplasm DOID:14125 NCI:C5826 SNOMEDCT_US_2015_03_01:126972009 UMLS_CUI:C1263898 VIth Cranial nerve tumors disease_ontology neoplasm of abducens nerve (disorder) SNOMEDCT_2005_07_31:126972009 neoplasm of abducens nerve (disorder) NCI2004_11_17:C5826 VIth Cranial nerve tumors lateral cystocele DOID:14130 ICD10CM:N81.12 ICD9CM:618.02 SNOMEDCT_US_2015_03_01:441891001 UMLS_CUI:C2711750 disease_ontology midline cystocele DOID:14131 ICD10CM:N81.11 ICD9CM:618.01 SNOMEDCT_US_2015_03_01:423633003 UMLS_CUI:C1456248 disease_ontology Masters-Allen syndrome Broad ligament laceration syndrome Broad ligament laceration syndrome (disorder) DOID:14133 ICD9CM:620.6 SNOMEDCT_US_2015_03_01:69186005 UMLS_CUI:C0152079 disease_ontology Broad ligament laceration syndrome (disorder) SNOMEDCT_2005_07_31:69186005 Broad ligament laceration syndrome ICD9CM_2006:620.6 anus lymphoma DOID:14139 Lymphoma of anus NCI:C5601 UMLS_CUI:C1332268 disease_ontology Lymphoma of anus NCI2004_11_17:C5601 ovarian dysfunction DOID:1414 ICD9CM:256.3 ICD9CM:256.39 SNOMEDCT_US_2015_03_01:190543001 SNOMEDCT_US_2015_03_01:190548005 SNOMEDCT_US_2015_03_01:267399006 UMLS_CUI:C0029697 disease_ontology pulp erosion DOID:14140 ICD9CM:521.33 UMLS_CUI:C1456163 disease_ontology malignant anus melanoma DOID:14145 NCI:C4639 SNOMEDCT_US_2015_03_01:276821000 UMLS_CUI:C0349538 anal melanoma disease_ontology malignant melanoma of anus (disorder) SNOMEDCT_2005_07_31:276821000 malignant melanoma of anus (disorder) NCI2004_11_17:C4639 anal melanoma ureterolithiasis DOID:14146 ICD9CM:592.1 MSH:D053039 SNOMEDCT_US_2015_03_01:31054009 SNOMEDCT_US_2015_03_01:95573009 UMLS_CUI:C0041952 Ureteric Stone Ureteric calculus Ureteric stone Ureteric stone (disorder) Ureterolithiasis (disorder) calculus of ureter disease_ontology NCI2004_11_17:C26902 Ureteric Stone SNOMEDCT_2005_07_31:31054009 Ureteric stone (disorder) SNOMEDCT_2005_07_31:155869008 Ureteric calculus MTHICD9_2006:592.1 Ureteric stone ICD9CM_2006:592.1 calculus of ureter SNOMEDCT_2005_07_31:95573009 Ureterolithiasis (disorder) gyrate atrophy DOID:1415 Gyrate atrophy of the choroid and/or retina MSH:D015799 NCI:C84744 OMIM mapping by NeuroDevNet. [LS]. OMIM:258870 Ornithinemia with gyrate atrophy (disorder) SNOMEDCT_US_2015_03_01:314466003 SNOMEDCT_US_2015_03_01:314467007 SNOMEDCT_US_2015_03_01:367536002 SNOMEDCT_US_2015_03_01:87126009 UMLS_CUI:C0018425 disease_ontology gyrate atrophy of the retina CSP2005:1849-9719 gyrate atrophy of the retina Ornithinemia with gyrate atrophy (disorder) SNOMEDCT_2005_07_31:314466003 Gyrate atrophy of the choroid and/or retina SNOMEDCT_2005_07_31:87126009 spinal cord lymphoma A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. DOID:14150 Lymphoma of the Spinal Cord NCI:C5157 UMLS_CUI:C1336044 disease_ontology spinal cord cancer A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. url:http://www.virtualmedicalcentre.com/diseases.asp?did=583 Lymphoma of the Spinal Cord NCI2004_11_17:C5157 spinal cord melanoma DOID:14151 NCI:C5158 UMLS_CUI:C1336045 disease_ontology melanoma of the Spinal Cord NCI2004_11_17:C5158 melanoma of the Spinal Cord spinal cord sarcoma DOID:14152 NCI:C5152 UMLS_CUI:C1336049 disease_ontology sarcoma of the Spinal Cord NCI2004_11_17:C5152 sarcoma of the Spinal Cord acute retrobulbar neuritis DOID:14155 ICD9CM:377.32 Retrobulbar neuritis (acute) SNOMEDCT_US_2015_03_01:51604006 UMLS_CUI:C0155301 acute retrobulbar neuritis (disorder) disease_ontology ICD9CM_2006:377.32 Retrobulbar neuritis (acute) SNOMEDCT_2005_07_31:51604006 acute retrobulbar neuritis (disorder) malnutrition of mild degree DOID:14157 disease_ontology true obstructive hydrocephalus DOID:14159 ICD10CM:G91.1 ICD9CM:331.4 MSH:D006849 Obstructive hydrocephalus Obstructive hydrocephalus (disorder) SNOMEDCT_US_2015_03_01:230746009 UMLS_CUI:C0549423 disease_ontology Obstructive hydrocephalus (disorder) SNOMEDCT_2005_07_31:230746009 ICD9CM_2006:331.4 Obstructive hydrocephalus metastatic malignant tumor to the anus DOID:14163 disease_ontology secondary malignant neoplasm of anus (disorder) true SNOMEDCT_2005_07_31:94172001 secondary malignant neoplasm of anus (disorder) bilateral hyperactive labyrinth Bilateral hyperactive labyrinth (disorder) DOID:14165 ICD9CM:386.52 SNOMEDCT_US_2015_03_01:194373002 SNOMEDCT_US_2015_03_01:5311007 UMLS_CUI:C0155516 disease_ontology hyperactive bilateral labyrinthine dysfunction (disorder) hyperactive labyrinth, bilateral ICD9CM_2006:386.52 hyperactive labyrinth, bilateral SNOMEDCT_2005_07_31:194373002 hyperactive bilateral labyrinthine dysfunction (disorder) Bilateral hyperactive labyrinth (disorder) SNOMEDCT_2005_07_31:5311007 choroid disease Choroid disorder Choroid disorder NOS (disorder) Choroidal disorder DOID:1417 ICD10CM:H31.9 ICD9CM:363.9 MSH:D015862 NCI:C34468 SNOMEDCT_US_2015_03_01:193431000 SNOMEDCT_US_2015_03_01:193480005 UMLS_CUI:C0008521 Unspecified disorder of choroid choroid disorder disease_ontology Choroid disorder NCI2004_11_17:C34468 Choroid disorder NOS (disorder) SNOMEDCT_2005_07_31:193480005 CSP2005:1114-9583 choroid disorder Choroidal disorder SNOMEDCT_2005_07_31:193431000 ICD9CM_2006:363.9 Unspecified disorder of choroid rheumatic congestive heart failure Congestive rheumatic heart failure (disorder) DOID:14172 ICD10CM:I09.81 ICD9CM:398.91 Rheumatic heart failure Rheumatic heart failure (congestive) SNOMEDCT_US_2015_03_01:82523003 UMLS_CUI:C0155582 disease_ontology Congestive rheumatic heart failure (disorder) SNOMEDCT_2005_07_31:82523003 MTHICD9_2006:398.91 Rheumatic heart failure ICD9CM_2006:398.91 Rheumatic heart failure (congestive) central neurocytoma DOID:14174 MSH:D018306 NCI:C3791 Neurolipocytoma SNOMEDCT_US_2015_03_01:128858006 SNOMEDCT_US_2015_03_01:302832007 UMLS_CUI:C0206719 disease_ontology Neurolipocytoma SNOMEDCT_2005_07_31:128858006 von Hippel-Lindau disease DOID:14175 Hippel Lindau syndrome ICD10CM:Q85.8 MSH:D006623 NCI:C3105 OMIM mapping confirmed by DO. [LS]. OMIM:193300 SNOMEDCT_US_2015_03_01:46659004 UMLS_CUI:C0019562 Von Hippel-Lindau syndrome (VHL) Von Hippel-Lindau syndrome (disorder) disease_ontology von Hippel-Lindau syndrome SNOMEDCT_2005_07_31:46659004 Von Hippel-Lindau syndrome (disorder) CSP2005:5000-0055 Hippel Lindau syndrome MTHICD9_2006:759.6 von Hippel-Lindau syndrome NCI2004_11_17:C3105 Von Hippel-Lindau syndrome (VHL) selective IgG deficiency disease DOID:14176 ICD10CM:D80.3 Immunoglobin G subclass deficiency MSH:D017099 NCI:C27024 NCI:C27142 SNOMEDCT_US_2015_03_01:123785006 SNOMEDCT_US_2015_03_01:190981001 Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency (disorder) UMLS_CUI:C0162539 disease_ontology NCI2004_11_17:C27024 Selective Immunoglobulin G Subclass deficiency NCI2004_11_17:C27142 Selective IgG Immunodeficiency MTHICD9_2006:279.03 Selective deficiency of IgG SNOMEDCT_2005_07_31:190981001 Selective immunoglobulin G deficiency (disorder) Immunoglobin G subclass deficiency SNOMEDCT_2005_07_31:123785006 congenital hypogammaglobulinemia Congenital hypogammaglobulinaemia Congenital hypogammaglobulinemia (finding) DOID:14177 ICD9CM:279.04 SNOMEDCT_US_2015_03_01:190983003 SNOMEDCT_US_2015_03_01:267460002 UMLS_CUI:C1457897 disease_ontology Congenital hypogammaglobulinemia (finding) SNOMEDCT_2005_07_31:267460002 Congenital hypogammaglobulinaemia SNOMEDCT_2005_07_31:190983003 immunodeficiency with increased IgM DOID:14178 disease_ontology true Bruton-type agammaglobulinemia A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia DOID:14179 ICD10CM:D80.0 MSH:C537409 NCI:C3822 OMIM mapping confirmed by DO. [SN]. OMIM:300310 OMIM:300755 ORDO:47 SNOMEDCT_US_2015_03_01:116133005 SNOMEDCT_US_2015_03_01:190983003 SNOMEDCT_US_2015_03_01:65880007 UMLS_CUI:C0221026 X-linked agammaglobulinemia (disorder) disease_ontology Bruton's type agammaglobulinemia MTHICD9_2006:279.04 SNOMEDCT_2005_07_31:65880007 X-linked agammaglobulinemia (disorder) Bruton's agammaglobulinaemia SNOMEDCT_2005_07_31:190983003 Bruton's Sex-Linked Agammaglobulinemia NCI2004_11_17:C3822 A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300 url:http://www.ncbi.nlm.nih.gov/gene/695? url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm url:ttp://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755 calcific tendinitis DOID:14181 ICD10CM:M75.3 ICD9CM:726.11 SNOMEDCT_US_2015_03_01:239957000 SNOMEDCT_US_2015_03_01:27741009 SNOMEDCT_US_2015_03_01:699942000 UMLS_CUI:C0158303 disease_ontology metastatic tumor to the choroid DOID:14182 disease_ontology true alcoholic neuropathy Alcohol-related polyneuropathy Alcoholic polyneuropathy DOID:14183 ICD10CM:G62.1 ICD9CM:357.5 MSH:D020269 NCI:C26926 SNOMEDCT_US_2015_03_01:123050003 SNOMEDCT_US_2015_03_01:155083006 SNOMEDCT_US_2015_03_01:7916009 UMLS_CUI:C0085677 disease_ontology Alcoholic polyneuropathy ICD9CM_2006:357.5 Alcohol-related polyneuropathy SNOMEDCT_2005_07_31:155083006 polyneuropathy due to drug DOID:14184 ICD10CM:G62.0 ICD9CM:357.6 SNOMEDCT_US_2015_03_01:7339009 UMLS_CUI:C0154762 disease_ontology frozen shoulder Adhesive capsulitis of shoulder DOID:14188 ICD10CM:M75.0 ICD9CM:726.0 MSH:D002062 SNOMEDCT_US_2015_03_01:156658000 SNOMEDCT_US_2015_03_01:156664007 SNOMEDCT_US_2015_03_01:202837002 SNOMEDCT_US_2015_03_01:202847004 SNOMEDCT_US_2015_03_01:268087008 SNOMEDCT_US_2015_03_01:399114005 SNOMEDCT_US_2015_03_01:8753005 UMLS_CUI:C0311223 adhesions-capsulitis,shoulder disease_ontology SNOMEDCT_2005_07_31:156658000 adhesions-capsulitis,shoulder Adhesive capsulitis of shoulder ICD9CM_2006:726.0 residual schizophrenia subchronic state with acute exacerbation DOID:1419 disease_ontology true shared paranoid disease DOID:14190 Induced psychotic disorder Shared paranoid disorder Shared psychotic disorder disease_ontology true SNOMEDCT_2005_07_31:191670008 Shared paranoid disorder Induced psychotic disorder SNOMEDCT_2005_07_31:61831009 ICD9CM_2006:297.3 Shared psychotic disorder simple paranoid state DOID:14191 Paranoid state, simple disease_ontology true ICD9CM_2006:297.0 Paranoid state, simple bicipital tenosynovitis DOID:14192 ICD9CM:726.12 SNOMEDCT_US_2015_03_01:202840002 SNOMEDCT_US_2015_03_01:41137001 UMLS_CUI:C0158304 disease_ontology posterior dislocation of lens DOID:14199 ICD10CM:H27.13 ICD9CM:379.34 Posterior dislocation of lens (disorder) SNOMEDCT_US_2015_03_01:14169000 SNOMEDCT_US_2015_03_01:194161005 UMLS_CUI:C0155373 disease_ontology Posterior dislocation of lens (disorder) SNOMEDCT_2005_07_31:14169000 diplopia DOID:14200 Diplopia (disorder) Double vision diplopia disease_ontology true Double vision MTHICD9_2006:368.2 CSP2005:1114-9612 diplopia Diplopia (disorder) SNOMEDCT_2005_07_31:24982008 adult dermatomyositis DOID:14202 adult onset dermatomyositis (disorder) disease_ontology SNOMEDCT_2005_07_31:402425006 adult onset dermatomyositis (disorder) childhood type dermatomyositis DOID:14203 Juvenile dermatomyositis MSH:D003882 NCI:C27576 SNOMEDCT_US_2015_03_01:1212005 UMLS_CUI:C0263666 childhood Dermatomyositis childhood type dermatomyositis (disorder) disease_ontology NCI2004_11_17:C27576 childhood Dermatomyositis SNOMEDCT_2005_07_31:1212005 childhood type dermatomyositis (disorder) Juvenile dermatomyositis SNOMEDCT_2005_07_31:201446001 hypophosphatasia DOID:14213 DOID:14763 ICD10CM:E83.39 MSH:C562440 MSH:D007014 NCI:C26798 OMIM mapping confirmed by DO. [SN]. OMIM:146300 OMIM:241500 OMIM:241510 SNOMEDCT_US_2015_03_01:124431003 SNOMEDCT_US_2015_03_01:190859005 SNOMEDCT_US_2015_03_01:30174008 SNOMEDCT_US_2015_03_01:360792001 SNOMEDCT_US_2015_03_01:70848009 UMLS_CUI:C0020630 UMLS_CUI:C0220743 childhood hypophosphatasia (disorder) deficiency of alkaline phosphatase (disorder) deficiency of alkaline phosphatase (disorder) [Ambiguous] disease_ontology hypophospatasia, childhood SNOMEDCT_2005_07_31:30174008 childhood hypophosphatasia (disorder) SNOMEDCT_2005_07_31:360792001 deficiency of alkaline phosphatase (disorder) SNOMEDCT_2005_07_31:124431003 deficiency of alkaline phosphatase (disorder) [Ambiguous] hyperamylasemia DOID:14215 disease_ontology true dihydropyrimidine dehydrogenase deficiency A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. DOID:14218 Dihydropyrimidine dehydrogenase deficiency (disorder) Dihydrouracil Dehydrogenase deficiency MSH:D054067 NCI:C3964 NCI:C84672 OMIM:274270 SNOMEDCT_US_2015_03_01:238016000 SNOMEDCT_US_2015_03_01:77365006 UMLS_CUI:C1959620 UMLS_CUI:C3495551 disease_ontology familial pyrimidinaemia thymine-uracilurea A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency Dihydrouracil Dehydrogenase deficiency NCI2004_11_17:C3964 Dihydropyrimidine dehydrogenase deficiency (disorder) SNOMEDCT_2005_07_31:238016000 SNOMEDCT_2005_07_31:77365006 familial pyrimidinaemia renal tubular acidosis A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. DOID:14219 ICD10CM:N25.89 MSH:D000141 NCI:C28129 OMIM:179830 OMIM:267200 OMIM:602722 SNOMEDCT_US_2015_03_01:1776003 UMLS_CUI:C0001126 Xref MGI. disease_ontology A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. url:http://en.wikipedia.org/wiki/Renal_tubular_acidosis url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html metabolic syndrome X ABDOMINAL OBESITY-METABOLIC SYNDROME DOID:14221 Dysmetabolic syndrome X EFO:0000195 ICD10CM:E88.81 ICD9CM:277.7 MSH:D024821 Metabolic syndrome X Metabolic syndrome X (disorder) NCI:C84442 OMIM mapping confirmed by DO. [SN]. OMIM:605552 SNOMEDCT_US_2015_03_01:190394009 SNOMEDCT_US_2015_03_01:237602007 UMLS_CUI:C0524620 disease_ontology dysmetabolic syndrome X metabolic syndrome Metabolic syndrome X (disorder) SNOMEDCT_2005_07_31:237602007 Metabolic syndrome X SNOMEDCT_2005_07_31:190394009 Dysmetabolic syndrome X ICD9CM_2006:277.7 CSP2005:5003-0027 dysmetabolic syndrome X ochronosis DOID:14223 ICD10CM:E70.29 MSH:D009794 NCI:C84938 Ochronosis (disorder) SNOMEDCT_US_2015_03_01:21924005 SNOMEDCT_US_2015_03_01:410042009 UMLS_CUI:C0028817 disease_ontology Ochronosis (disorder) SNOMEDCT_2005_07_31:21924005 tracheal calcification Calcification of trachea (disorder) DOID:14224 NCI:C35314 SNOMEDCT_US_2015_03_01:81089005 UMLS_CUI:C0264324 disease_ontology Calcification of trachea (disorder) SNOMEDCT_2005_07_31:81089005 acute frontal sinusitis A frontal sinusitis which lasts for less than 4 weeks. DOID:14225 ICD10CM:J01.1 ICD10CM:J01.10 ICD9CM:461.1 SNOMEDCT_US_2015_03_01:155500003 SNOMEDCT_US_2015_03_01:91038008 UMLS_CUI:C0155805 acute frontal sinusitis (disorder) disease_ontology SNOMEDCT_2005_07_31:91038008 acute frontal sinusitis (disorder) A frontal sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen. DOID:14227 EFO:0000279 ICD9CM:606.0 MSH:D053713 OMIM:102530 OMIM:108420 OMIM:243060 OMIM:258150 OMIM:270960 OMIM:309120 OMIM:415000 OMIM:606766 OMIM:612997 OMIM:613957 OMIM:613958 OMIM:614822 OMIM:615081 OMIM:615413 OMIM:615841 OMIM:615842 ORDO:217034 SNOMEDCT_US_2015_03_01:145008007 SNOMEDCT_US_2015_03_01:155925000 SNOMEDCT_US_2015_03_01:167781002 SNOMEDCT_US_2015_03_01:198010009 SNOMEDCT_US_2015_03_01:425558002 SNOMEDCT_US_2015_03_01:48188009 UMLS_CUI:C0004509 Xref MGI. disease_ontology spermatogenic failure A male infertility disease characterized by the absence of any measurable level of sperm in semen. url:http://en.wikipedia.org/wiki/Azoospermia url:http://ghr.nlm.nih.gov/glossary=azoospermia oligospermia DOID:14228 ICD10CM:N46.1 ICD10CM:N46.11 ICD9CM:606.1 MSH:D009845 NCI:C34860 Oligozoospermia (finding) UMLS_CUI:C0028960 disease_ontology Oligozoospermia (finding) SNOMEDCT_2005_07_31:88311004 scleromalacia perforans DOID:14230 ICD10CM:H15.05 ICD9CM:379.04 SNOMEDCT_US_2015_03_01:26664005 Scleromalacia perforans (disorder) UMLS_CUI:C0155354 disease_ontology SNOMEDCT_2005_07_31:26664005 Scleromalacia perforans (disorder) orbital cyst DOID:14233 ICD10CM:H05.81 ICD9CM:376.81 SNOMEDCT_US_2015_03_01:194033002 SNOMEDCT_US_2015_03_01:31021007 UMLS_CUI:C0155285 disease_ontology orbital cyst (disorder) orbital cysts SNOMEDCT_2005_07_31:31021007 orbital cyst (disorder) SNOMEDCT_2005_07_31:194033002 orbital cysts ICD9CM_2006:376.81 orbital cysts gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting. DOID:0050071 DOID:14239 Enteric tularemia ICD9CM:021.1 ICD9CM:021.8 SNOMEDCT_US_2015_03_01:111834003 SNOMEDCT_US_2015_03_01:186292001 SNOMEDCT_US_2015_03_01:186296003 SNOMEDCT_US_2015_03_01:186298002 SNOMEDCT_US_2015_03_01:186299005 SNOMEDCT_US_2015_03_01:398599000 SNOMEDCT_US_2015_03_01:62769007 UMLS_CUI:C0029835 UMLS_CUI:C0152942 disease_ontology intestinal tularaemia Enteric tularemia ICD9CM_2006:021.1 A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting. url:http://usgips.com/web/Download/LAMPS%20USCAP2003.pdf SNOMEDCT_2005_07_31:186292001 intestinal tularaemia chronic perichondritis of pinna A perichondritis of auricle which is persistent and long-lasting. DOID:14243 ICD9CM:380.02 SNOMEDCT_US_2015_03_01:194195009 SNOMEDCT_US_2015_03_01:45431004 UMLS_CUI:C0155391 chronic perichondritis of pinna (disorder) chronic pinna perichondritis disease_ontology A perichondritis of auricle which is persistent and long-lasting. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm SNOMEDCT_2005_07_31:45431004 chronic perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:194195009 chronic pinna perichondritis epiphora due to excess lacrimation DOID:14244 Epiphora due to excess lacrimation (disorder) ICD10CM:H04.21 ICD9CM:375.21 SNOMEDCT_US_2015_03_01:193984005 SNOMEDCT_US_2015_03_01:31788005 UMLS_CUI:C0155233 disease_ontology Epiphora due to excess lacrimation (disorder) SNOMEDCT_2005_07_31:31788005 cystoid macular retinal degeneration Cystoid macular degeneration of retina Cystoid macular retinal degeneration (disorder) DOID:14245 ICD10CM:H35.35 ICD9CM:362.53 SNOMEDCT_US_2015_03_01:14046000 UMLS_CUI:C0154850 disease_ontology Cystoid macular retinal degeneration (disorder) SNOMEDCT_2005_07_31:14046000 Cystoid macular degeneration of retina ICD9CM_2006:362.53 chronic purulent otitis media A suppurative otitis media which is persistent and long-lasting. DOID:14247 ICD10CM:H66.3 ICD9CM:382.3 SNOMEDCT_US_2015_03_01:155228005 SNOMEDCT_US_2015_03_01:194284006 SNOMEDCT_US_2015_03_01:232253005 SNOMEDCT_US_2015_03_01:38394007 UMLS_CUI:C0271454 Unspecified chronic suppurative otitis media chronic purulent otitis media (disorder) chronic suppurative otitis media chronic suppurative otitis media NOS (disorder) disease_ontology ICD9CM_2006:382.3 Unspecified chronic suppurative otitis media A suppurative otitis media which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:155228005 chronic suppurative otitis media SNOMEDCT_2005_07_31:194284006 chronic suppurative otitis media NOS (disorder) SNOMEDCT_2005_07_31:232253005 chronic suppurative otitis media SNOMEDCT_2005_07_31:38394007 chronic purulent otitis media (disorder) chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. DOID:14248 ICD10CM:H66.2 ICD10CM:H66.20 ICD9CM:382.2 SNOMEDCT_US_2015_03_01:41954005 UMLS_CUI:C0155441 chronic atticoantral suppurative otitis media chronic atticoantral suppurative otitis media (disorder) disease_ontology A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:41954005 chronic atticoantral suppurative otitis media (disorder) ICD9CM_2006:382.2 chronic atticoantral suppurative otitis media pyoureter DOID:1425 NCI:C35666 Pyoureter (disorder) SNOMEDCT_US_2015_03_01:266627003 SNOMEDCT_US_2015_03_01:85884009 UMLS_CUI:C0034223 Ureter abscess disease_ontology NCI2004_11_17:C35666 Ureter abscess Pyoureter (disorder) SNOMEDCT_2005_07_31:85884009 Down syndrome A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. Complete trisomy 21 syndrome (disorder) DOID:14250 Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy ICD10CM:Q90 ICD10CM:Q90.9 ICD9CM:758.0 MSH:D004314 NCI:C101222 NCI:C2993 OMIM mapping confirmed by DO. [SN]. OMIM:190685 SNOMEDCT_US_2015_03_01:157019002 SNOMEDCT_US_2015_03_01:205614001 SNOMEDCT_US_2015_03_01:205618003 SNOMEDCT_US_2015_03_01:254263008 SNOMEDCT_US_2015_03_01:41040004 UMLS_CUI:C0013080 disease_ontology trisomy 21 syndrome Complete trisomy 21 syndrome (disorder) SNOMEDCT_2005_07_31:41040004 Down's syndrome - trisomy 21 SNOMEDCT_2005_07_31:205614001 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. url:http://en.wikipedia.org/wiki/Down_syndrome url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome Down's syndrome SNOMEDCT_2005_07_31:157019002 CSP2005:1254-8068 trisomy 21 syndrome Downs syndrome NCI2004_11_17:C2993 G Trisomy MTHICD9_2006:758.0 vitreoretinal dystrophy DOID:14251 ICD10CM:H35.51 ICD9CM:362.73 SNOMEDCT_US_2015_03_01:79556007 UMLS_CUI:C0154863 Vitreoretinal dystrophies Vitreoretinal dystrophy (disorder) disease_ontology SNOMEDCT_2005_07_31:79556007 Vitreoretinal dystrophy (disorder) ICD9CM_2006:362.73 Vitreoretinal dystrophies dystrophies primarily involving the retinal pigment epithelium DOID:14252 ICD10CM:H35.54 ICD9CM:362.76 UMLS_CUI:C0154865 disease_ontology retinal dystrophy in systemic or cerebroretinal lipidoses DOID:14253 ICD9CM:362.71 UMLS_CUI:C0154861 disease_ontology adult-onset Still's disease An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. DOID:14256 ICD10CM:M06.1 MSH:D016706 SNOMEDCT_US_2015_03_01:201449008 SNOMEDCT_US_2015_03_01:201815006 SNOMEDCT_US_2015_03_01:239920006 UMLS_CUI:C0085253 adult onset Still's disease adult-onset Still disease disease_ontology An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. url:http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease url:http://www.mayoclinic.com/health/adult-stills-disease/DS00792 url:http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm url:http://www.stillsdisease.org/ url:http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html SNOMEDCT_2005_07_31:201815006 adult onset Still's disease leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb DOID:14258 Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true ICD9CM_2006:202.45 Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188649008 Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93149008 ureteral disease A urinary system disease that is located_in the ureter. DOID:1426 MSH:D014515 NCI:C27148 UMLS_CUI:C0041954 disease_ontology A urinary system disease that is located_in the ureter. url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html fragile X syndrome An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. DOID:14261 FRAGILE X MENTAL RETARDATION SYNDROME ICD10CM:Q99.2 ICD9CM:759.83 MARKER X SYNDROME MARTIN-BELL SYNDROME MSH:D005600 NCI:C84717 OMIM mapping confirmed by DO. [SN]. OMIM:300624 SNOMEDCT_US_2015_03_01:390007001 SNOMEDCT_US_2015_03_01:613003 UMLS_CUI:C0016667 disease_ontology An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. url:http://en.wikipedia.org/wiki/Fragile_X_syndrome url:http://omim.org/entry/300624 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 oral candidiasis A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. Candidiasis of mouth Candidiasis of mouth (disorder) DOID:14262 ICD10CM:B37.0 ICD10CM:B37.9 ICD9CM:112.0 MSH:D002180 NCI:C28137 Oral moniliasis SNOMEDCT_US_2015_03_01:187005005 SNOMEDCT_US_2015_03_01:187006006 SNOMEDCT_US_2015_03_01:367093001 SNOMEDCT_US_2015_03_01:78048006 SNOMEDCT_US_2015_03_01:79740000 Thrush, oral UMLS_CUI:C0006849 disease_ontology thrush thrush (disorder) Oral moniliasis SNOMEDCT_2005_07_31:187006006 Candidiasis of mouth ICD9CM_2006:112.0 Candidiasis of mouth (disorder) SNOMEDCT_2005_07_31:79740000 NCI2004_11_17:C28137 thrush A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. url:http://en.wikipedia.org/wiki/Oral_candidiasis CSP2005:1988-5045 thrush (disorder) MTHICD9_2006:112.0 Thrush, oral fits in newborn Convulsions in newborn Convulsions in the newborn (disorder) DOID:14263 Seizures in newborn disease_ontology true Convulsions in newborn SNOMEDCT_2005_07_31:230436006 Convulsions in the newborn (disorder) SNOMEDCT_2005_07_31:87476004 Convulsions in newborn ICD9CM_2006:779.0 Convulsions in newborn SNOMEDCT_2005_07_31:157162003 MTHICD9_2006:779.0 Seizures in newborn benign neonatal seizures A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. DOID:14264 MSH:D020936 NCI:C84593 OMIM:121200 OMIM:121201 OMIM:269720 OMIM:615812 ORDO:1949 SNOMEDCT_US_2015_03_01:276724002 SNOMEDCT_US_2015_03_01:38281008 UMLS_CUI:C0270851 Xref MGI. benign familial neonatal seizures benign neonatal convulsions disease_ontology A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. url:http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy url:http://www.ncbi.nlm.nih.gov/books/NBK32534/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 pulmonary valve insufficiency A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. DOID:11210 DOID:14265 MSH:D011665 NCI:C50848 NCI:C51447 NCI:C62436 Pulmonic insufficiency NOS Pulmonic valve regurgitation (disorder) Replacing outdated UMLS CUI. SNOMEDCT_US_2015_03_01:91434003 UMLS_CUI:C0034088 disease_ontology pulmonary incompetence pulmonary incompetence, non-rheumatic (disorder) pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation MTHICD9_2006:424.3 Pulmonic insufficiency NOS SNOMEDCT_2005_07_31:155348001 pulmonary regurg. Pulmonic valve regurgitation (disorder) SNOMEDCT_2005_07_31:91434003 SNOMEDCT_2005_07_31:266299004 pulmonary regurg. A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. url:http://en.wikipedia.org/wiki/pulmonary_insufficiency SNOMEDCT_2005_07_31:194995005 pulmonary incompetence, non-rheumatic (disorder) sclerosing cholangitis DOID:14268 EFO:0004268 ICD10CM:K83.0 MSH:D015209 SNOMEDCT_US_2015_03_01:197443000 SNOMEDCT_US_2015_03_01:235917005 SNOMEDCT_US_2015_03_01:4032000 Sclerosing cholangitis Sclerosing cholangitis (disorder) Sclerosing cholangitis unspecified (disorder) UMLS_CUI:C0008313 disease_ontology fibrosing cholangitis SNOMEDCT_2005_07_31:197443000 Sclerosing cholangitis unspecified (disorder) MTHICD9_2006:576.1 Sclerosing cholangitis SNOMEDCT_2005_07_31:4032000 Sclerosing cholangitis CSP2005:5000-0057 fibrosing cholangitis SNOMEDCT_2005_07_31:235917005 Sclerosing cholangitis (disorder) suppurative cholangitis DOID:14269 ICD10CM:K83.0 NCI:C35336 SNOMEDCT_US_2015_03_01:197437002 SNOMEDCT_US_2015_03_01:69850007 Suppurative Cholangitis Suppurative cholangitis (disorder) UMLS_CUI:C0267924 disease_ontology SNOMEDCT_2005_07_31:69850007 Suppurative cholangitis (disorder) NCI2004_11_17:C35336 Suppurative Cholangitis disorder of pancreatic internal secretion DOID:1427 Unspecified disorder of pancreatic internal secretion disease_ontology disorder of pancreatic internal secretion (disorder) true SNOMEDCT_2005_07_31:111560008 disorder of pancreatic internal secretion (disorder) ICD9CM_2006:251.9 Unspecified disorder of pancreatic internal secretion ascending cholangitis Ascending Cholangitis Ascending cholangitis (disorder) DOID:14270 ICD10CM:K83.0 NCI:C35372 SNOMEDCT_US_2015_03_01:26918003 UMLS_CUI:C0311273 disease_ontology Ascending cholangitis (disorder) SNOMEDCT_2005_07_31:26918003 Ascending Cholangitis NCI2004_11_17:C35372 acute cholangitis DOID:14271 NCI:C35334 SNOMEDCT_US_2015_03_01:6215006 UMLS_CUI:C0267917 acute Cholangitis acute cholangitis (disorder) disease_ontology NCI2004_11_17:C35334 acute Cholangitis SNOMEDCT_2005_07_31:6215006 acute cholangitis (disorder) pericholangitis DOID:14272 NCI:C34916 Pericholangitis (disorder) SNOMEDCT_US_2015_03_01:111373008 UMLS_CUI:C0031052 disease_ontology Pericholangitis (disorder) SNOMEDCT_2005_07_31:111373008 atrophic vulva Atrophy of vulva Atrophy of vulva (disorder) Atrophy of vulva (disorder) [Ambiguous] DOID:14275 ICD10CM:N90.5 ICD9CM:624.1 SNOMEDCT_US_2015_03_01:198382004 SNOMEDCT_US_2015_03_01:248861000 SNOMEDCT_US_2015_03_01:82614005 UMLS_CUI:C0156393 atrophic vulva (disorder) disease_ontology SNOMEDCT_2005_07_31:248861000 atrophic vulva (disorder) Atrophy of vulva (disorder) SNOMEDCT_2005_07_31:198382004 Atrophy of vulva ICD9CM_2006:624.1 Atrophy of vulva (disorder) [Ambiguous] SNOMEDCT_2005_07_31:82614005 shoulder impingement syndrome DOID:14276 ICD10CM:M75.4 Impingement syndrome of shoulder region Impingement syndrome of shoulder region (disorder) MSH:D019534 SNOMEDCT_US_2015_03_01:128498000 SNOMEDCT_US_2015_03_01:202849001 SNOMEDCT_US_2015_03_01:202851002 SNOMEDCT_US_2015_03_01:239960007 SNOMEDCT_US_2015_03_01:366831005 Shoulder impingement syndrome (disorder) [Ambiguous] Subacromial impingement (disorder) UMLS_CUI:C0376685 disease_ontology SNOMEDCT_2005_07_31:202849001 Subacromial impingement (disorder) SNOMEDCT_2005_07_31:128498000 Shoulder impingement syndrome (disorder) [Ambiguous] Impingement syndrome of shoulder region (disorder) SNOMEDCT_2005_07_31:239960007 Impingement syndrome of shoulder region SNOMEDCT_2005_07_31:202851002 Impingement syndrome of shoulder region SNOMEDCT_2005_07_31:366831005 arthropathy of the hand Arthropathy NOS, of the hand (disorder) DOID:14278 Joint disorder NOS, of the hand (disorder) Unspecified disorder of hand joint disease_ontology true ICD9CM_2006:719.94 Unspecified disorder of hand joint Arthropathy NOS, of the hand (disorder) SNOMEDCT_2005_07_31:202065001 Joint disorder NOS, of the hand (disorder) SNOMEDCT_2005_07_31:202639001 endocrine pancreas disease DOID:1428 ICD10CM:E16 ICD9CM:251 SNOMEDCT_US_2015_03_01:190427005 SNOMEDCT_US_2015_03_01:190450004 SNOMEDCT_US_2015_03_01:237574003 SNOMEDCT_US_2015_03_01:267385007 UMLS_CUI:C0154189 disease_ontology primary hypertrophic osteoarthropathy DOID:14283 ICD10CM:M89.4 MSH:D010004 NCI:C85023 OMIM mapping confirmed by DO. [SN]. OMIM:259100 Pachydermoperiostosis of nail Pachydermoperiostosis of nail (disorder) Pachydermoperiostosis of nail [Ambiguous] Pachydermoperiostosis syndrome (disorder) SNOMEDCT_US_2015_03_01:201124000 SNOMEDCT_US_2015_03_01:223726008 SNOMEDCT_US_2015_03_01:239052008 SNOMEDCT_US_2015_03_01:88220006 UMLS_CUI:C0029411 disease_ontology Pachydermoperiostosis of nail [Ambiguous] SNOMEDCT_2005_07_31:239052008 Pachydermoperiostosis syndrome (disorder) SNOMEDCT_2005_07_31:88220006 Pachydermoperiostosis of nail (disorder) SNOMEDCT_2005_07_31:223726008 Pachydermoperiostosis of nail SNOMEDCT_2005_07_31:201124000 patellofemoral pain syndrome DOID:14284 MSH:D046788 UMLS_CUI:C0877149 disease_ontology neurogenic arthropathy Arthropathy associated with neurological disorder Charcot's arthropathy Charcot's joint DOID:14286 ICD10CM:M14.6 ICD9CM:713.5 MSH:D001177 Neuropathic arthropathy (& Charcot's) SNOMEDCT_US_2015_03_01:156514009 SNOMEDCT_US_2015_03_01:201734004 SNOMEDCT_US_2015_03_01:239824003 SNOMEDCT_US_2015_03_01:268056006 SNOMEDCT_US_2015_03_01:359554008 SNOMEDCT_US_2015_03_01:60730005 SNOMEDCT_US_2015_03_01:67536000 SNOMEDCT_US_2015_03_01:77602000 UMLS_CUI:C0003892 disease_ontology Neuropathic arthropathy (& Charcot's) SNOMEDCT_2005_07_31:201734004 Charcot's arthropathy SNOMEDCT_2005_07_31:239824003 Arthropathy associated with neurological disorder ICD9CM_2006:713.5 Charcot's joint SNOMEDCT_2005_07_31:156514009 brawny scleritis Brawny scleritis (disorder) DOID:14287 ICD10CM:H15.02 ICD9CM:379.06 SNOMEDCT_US_2015_03_01:91612009 UMLS_CUI:C0155356 disease_ontology Brawny scleritis (disorder) SNOMEDCT_2005_07_31:91612009 Ebstein anomaly A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. DOID:14289 Ebstein's anomaly Ebstein's anomaly (disorder) [Ambiguous] Ebstein's anomaly of common atrioventricular valve (disorder) Ebstein's anomaly of right atrioventricular valve (disorder) Ebstein's anomaly of tricuspid valve (disorder) ICD10CM:Q22.5 ICD9CM:746.2 MSH:D004437 NCI:C84681 OMIM mapping confirmed by DO. [SN]. OMIM:224700 SNOMEDCT_US_2015_03_01:1796006 UMLS_CUI:C0013481 disease_ontology Ebstein's anomaly of tricuspid valve (disorder) SNOMEDCT_2005_07_31:204357006 Ebstein's anomaly (disorder) [Ambiguous] SNOMEDCT_2005_07_31:1796006 Ebstein's anomaly ICD9CM_2006:746.2 Ebstein's anomaly of common atrioventricular valve (disorder) SNOMEDCT_2005_07_31:253443005 Ebstein's anomaly of right atrioventricular valve (disorder) SNOMEDCT_2005_07_31:253468007 A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. url:http://en.wikipedia.org/wiki/Ebstein_anomaly LEOPARD syndrome Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Cardiocutaneous syndrome DOID:14291 Generalized lentiginosis (disorder) Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome MSH:D044542 Moynahan syndrome Multiple lentigines syndrome (disorder) NCI:C84820 OMIM mapping confirmed by DO. [SN]. OMIM:151100 OMIM:611554 OMIM:613707 Progressive cardiomyopathic lentiginosis SNOMEDCT_US_2015_03_01:111306001 SNOMEDCT_US_2015_03_01:403537000 UMLS_CUI:C0175704 disease_ontology Generalized lentiginosis (disorder) SNOMEDCT_2005_07_31:403537000 Multiple lentigines syndrome (disorder) SNOMEDCT_2005_07_31:111306001 CSP2005:0723-1051 LEOPARD syndrome vulvar dystrophy DOID:14292 Dystrophy of vulva Dystrophy of vulva (disorder) Dystrophy of vulva NOS (disorder) ICD10CM:N90.4 ICD9CM:624.0 NCI:C34565 SNOMEDCT_US_2015_03_01:198378001 SNOMEDCT_US_2015_03_01:198381006 SNOMEDCT_US_2015_03_01:51689003 UMLS_CUI:C0013426 disease_ontology Dystrophy of vulva SNOMEDCT_2005_07_31:198378001 Dystrophy of vulva (disorder) SNOMEDCT_2005_07_31:51689003 Dystrophy of vulva NOS (disorder) SNOMEDCT_2005_07_31:198381006 Dystrophy of vulva ICD9CM_2006:624.0 tuberculous empyema A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. DOID:14305 MSH:D004654 NCI:C34575 SNOMEDCT_US_2015_03_01:14527007 SNOMEDCT_US_2015_03_01:186184002 Tuberculous Empyema Tuberculous empyema Tuberculous empyema (& pleural) Tuberculous empyema (disorder) UMLS_CUI:C0014014 disease_ontology SNOMEDCT_2005_07_31:14527007 Tuberculous empyema (disorder) A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. url:http://erj.ersjournals.com/cgi/reprint/10/4/942 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema MTHICD9_2006:012.0 Tuberculous empyema SNOMEDCT_2005_07_31:186184002 Tuberculous empyema (& pleural) NCI2004_11_17:C34575 Tuberculous Empyema skin epithelioid hemangioma Angiolymphoid Cutaneous hyperplasia DOID:14308 MSH:D000796 NCI:C7393 SNOMEDCT_US_2015_03_01:254791004 SNOMEDCT_US_2015_03_01:400131007 UMLS_CUI:C0002989 disease_ontology epithelioid hemangioma of skin (disorder) SNOMEDCT_2005_07_31:254791004 epithelioid hemangioma of skin (disorder) SNOMEDCT_2005_07_31:400131007 epithelioid hemangioma of skin (disorder) Angiolymphoid Cutaneous hyperplasia NCI2004_11_17:C7393 Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. DOID:11749 DOID:14311 DOID:2330 calcivirus enteritis disease_ontology norwalk virus enteritis small round virus enteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm nontoxic uninodular goiter DOID:14312 Non-toxic uninodular goiter (disorder) Non-toxic uninodular goiter (disorder) [Ambiguous] Non-toxic uninodular goitre disease_ontology true Non-toxic uninodular goiter (disorder) SNOMEDCT_2005_07_31:190237002 Non-toxic uninodular goiter (disorder) [Ambiguous] SNOMEDCT_2005_07_31:76917005 Non-toxic uninodular goitre SNOMEDCT_2005_07_31:154652001 thyroid nodule DOID:14313 Nodule of the Thyroid gland Thyroid nodule Thyroid nodule (disorder) disease_ontology true MTHICD9_2006:241.0 Thyroid nodule SNOMEDCT_2005_07_31:237495005 Thyroid nodule (disorder) SNOMEDCT_2005_07_31:76917005 Thyroid nodule SNOMEDCT_2005_07_31:190234009 Thyroid nodule NCI2004_11_17:C3415 Nodule of the Thyroid gland pleuropneumonia A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. DOID:14319 MSH:D011001 Pleurobronchopneumonia SNOMEDCT_US_2015_03_01:60485005 UMLS_CUI:C0032241 disease_ontology A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia MTHICD9_2006:485 Pleurobronchopneumonia blindness Blindness and low vis. Blindness or low vision NOS Blindness or low vision NOS (finding) DOID:1432 ICD10CM:H54 ICD9CM:369 SNOMEDCT_US_2015_03_01:155146008 SNOMEDCT_US_2015_03_01:155150001 SNOMEDCT_US_2015_03_01:193698004 SNOMEDCT_US_2015_03_01:267729001 UMLS_CUI:C0155020 disease_ontology Blindness or low vision NOS (finding) SNOMEDCT_2005_07_31:267729001 Blindness or low vision NOS SNOMEDCT_2005_07_31:155150001 Blindness and low vis. SNOMEDCT_2005_07_31:193698004 Blindness and low vis. SNOMEDCT_2005_07_31:155146008 generalized anxiety disorder An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. DOID:14320 ICD10CM:F41.1 ICD9CM:300.02 NCI:C92622 SNOMEDCT_US_2015_03_01:191706008 SNOMEDCT_US_2015_03_01:192401002 SNOMEDCT_US_2015_03_01:21897009 UMLS_CUI:C0270549 disease_ontology An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder Marfan syndrome DOID:14323 ICD10CM:Q87.4 ICD10CM:Q87.40 ICD9CM:759.82 MSH:D008382 Marfan's syndrome NCI:C34807 OMIM mapping confirmed by DO. [SN]. OMIM:154700 SNOMEDCT_US_2015_03_01:157024004 SNOMEDCT_US_2015_03_01:157033002 SNOMEDCT_US_2015_03_01:19346006 SNOMEDCT_US_2015_03_01:268359006 UMLS_CUI:C0024796 disease_ontology Marfan's syndrome SNOMEDCT_2005_07_31:268359006 Plasmodium malariae malaria A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. DOID:14324 ICD10CM:B52 ICD10CM:B52.9 ICD9CM:084.2 Malaria by Plasmodium malariae NCI:C34799 Quartan Malaria Quartan malaria Quartan malaria (disorder) SNOMEDCT_US_2015_03_01:27618009 UMLS_CUI:C0024536 disease_ontology MTHICD9_2006:084.2 Malaria by Plasmodium malariae A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria ICD9CM_2006:084.2 Quartan malaria NCI2004_11_17:C34799 Quartan Malaria Quartan malaria (disorder) SNOMEDCT_2005_07_31:27618009 mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. DOID:14325 ICD9CM:084.5 Malaria fever by more than one parasite SNOMEDCT_US_2015_03_01:21070001 UMLS_CUI:C0153121 disease_ontology malaria by more than one parasite MTHICD9_2006:084.5 Malaria fever by more than one parasite A malaria that involves infection with more than one species of Plasmodium at the same time. url:http://www.ncbi.nlm.nih.gov/pubmed/15105024 avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. Avian malaria (disorder) DOID:14326 disease_ontology true A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. url:http://en.wikipedia.org/wiki/Avian_malaria Avian malaria (disorder) SNOMEDCT_2005_07_31:1498006 gonococcal pericarditis DOID:14327 Gonococcal pericarditis (disorder) disease_ontology true Gonococcal pericarditis (disorder) SNOMEDCT_2005_07_31:90428001 Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. DOID:14330 EFO:0002508 ICD10CM:G20 ICD9CM:332 ICD9CM:332.0 KEGG:05012 MSH:D010300 NCI:C26845 OMIM:168600 OMIM:260300 OMIM:300557 OMIM:556500 OMIM:602404 OMIM:605543 OMIM:606324 OMIM:606693 OMIM:606852 OMIM:607060 OMIM:607688 OMIM:610297 OMIM:612953 OMIM:613164 OMIM:613643 OMIM:614203 OMIM:614251 OMIM:615528 OMIM:615530 ORDO:2828 Parkinson disease SNOMEDCT_US_2015_03_01:154999006 SNOMEDCT_US_2015_03_01:155000006 SNOMEDCT_US_2015_03_01:155002003 SNOMEDCT_US_2015_03_01:192825001 SNOMEDCT_US_2015_03_01:192831003 SNOMEDCT_US_2015_03_01:49049000 UMLS_CUI:C0030567 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology paralysis agitans A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. url:http://en.wikipedia.org/wiki/Parkinson%27s_disease CSP2005:2057-3689 paralysis agitans postencephalitic Parkinson disease DOID:14332 ICD10CM:G21.3 MSH:D010301 NCI:C34898 Postencephalitic Parkinsonism Postencephalitic parkinsonism Postencephalitic parkinsonism (disorder) SNOMEDCT_US_2015_03_01:192828004 SNOMEDCT_US_2015_03_01:19972008 UMLS_CUI:C0030568 disease_ontology Postencephalitic parkinsonism (disorder) SNOMEDCT_2005_07_31:19972008 NCI2004_11_17:C34898 Postencephalitic Parkinsonism Postencephalitic parkinsonism SNOMEDCT_2005_07_31:192828004 estrogen excess DOID:14336 Estrogen excess (disorder) ICD10CM:E28.0 ICD9CM:256.0 NCI:C113344 SNOMEDCT_US_2015_03_01:190533004 SNOMEDCT_US_2015_03_01:37295009 UMLS_CUI:C0154209 disease_ontology hyperestrogenism hyperestrogenism (disorder) ICD9CM_2006:256.0 hyperestrogenism SNOMEDCT_2005_07_31:37295009 hyperestrogenism (disorder) Estrogen excess (disorder) SNOMEDCT_2005_07_31:190533004 Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. DOID:14338 Pneumonia due to Pseudomonas Pneumonia due to Pseudomonas (disorder) disease_ontology true ICD9CM_2006:482.1 Pneumonia due to Pseudomonas Pneumonia due to Pseudomonas (disorder) SNOMEDCT_2005_07_31:41381004 A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. url:http://en.wikipedia.org/wiki/Pseudomonas_aeruginosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf paraphrenia DOID:14339 Paraphrenia Paraphrenia (disorder) disease_ontology true Paraphrenia SNOMEDCT_2005_07_31:154869001 Paraphrenia (disorder) SNOMEDCT_2005_07_31:26472000 NCI2004_11_17:C35721 Paraphrenia Paraphrenia SNOMEDCT_2005_07_31:268748000 ICD9CM_2006:297.2 Paraphrenia suppurative thyroiditis DOID:14350 ICD10CM:E06.0 Infectious thyroiditis (disorder) MSH:D013969 SNOMEDCT_US_2015_03_01:25476006 SNOMEDCT_US_2015_03_01:3511005 Suppurative thyroiditis UMLS_CUI:C0040150 acute suppurative thyroiditis (disorder) disease_ontology Infectious thyroiditis (disorder) SNOMEDCT_2005_07_31:3511005 SNOMEDCT_2005_07_31:25476006 acute suppurative thyroiditis (disorder) MTHICD9_2006:245.0 Suppurative thyroiditis Riedel's fibrosing thyroiditis DOID:14351 NCI:C35827 Riedel fibrosing thyroiditis UMLS_CUI:C1335787 disease_ontology acute thyroiditis DOID:14353 ICD10CM:E06.0 ICD9CM:245.0 SNOMEDCT_US_2015_03_01:154665005 SNOMEDCT_US_2015_03_01:190293001 SNOMEDCT_US_2015_03_01:190295008 UMLS_CUI:C0001360 acute thyroiditis (disorder) acute thyroiditis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:190295008 acute thyroiditis NOS (disorder) SNOMEDCT_2005_07_31:190293001 acute thyroiditis (disorder) corneal ectasia Corneal ectasia (disorder) DOID:1436 ICD10CM:H18.71 ICD9CM:371.71 SNOMEDCT_US_2015_03_01:14748007 UMLS_CUI:C0155135 disease_ontology Corneal ectasia (disorder) SNOMEDCT_2005_07_31:14748007 Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. DOID:14360 Infection by Opisthorchis viverrini (disorder) Opisthorchis Viverrini Infection disease_ontology true A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm NCI2004_11_17:C39295 Opisthorchis Viverrini Infection Infection by Opisthorchis viverrini (disorder) SNOMEDCT_2005_07_31:90281006 congenital syphilitic meningitis Congenital syphilitic meningitis (disorder) DOID:14363 disease_ontology true Congenital syphilitic meningitis (disorder) SNOMEDCT_2005_07_31:6267005 systemic primary carnitine deficiency disease An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. DOID:14365 DOID:1668 ICD10CM:E71.41 ICD10CM:E71.42 ICD9CM:277.81 ICD9CM:277.82 MSH:C536778 NCI:C98864 OMIM mapping confirmed by DO. [SN]. OMIM:212140 SNOMEDCT_US_2015_03_01:21764004 UMLS_CUI:C0342788 UMLS_CUI:C1260388 carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter disease_ontology primary carnitine deficiency renal carnitine transport defect (disorder) ICD9CM_2006:277.81 primary carnitine deficiency An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. url:http://en.wikipedia.org/wiki/Carnitine_deficiency SNOMEDCT_2005_07_31:21764004 renal carnitine transport defect (disorder) norwegian scabies (Scabies (& [Norwegian])) or (sarcoptic itch) A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. Crusted scabies (disorder) DOID:14374 NCI:C34855 Norwegian Scabies SNOMEDCT_US_2015_03_01:128870005 SNOMEDCT_US_2015_03_01:187215008 SNOMEDCT_US_2015_03_01:67172004 UMLS_CUI:C0028425 disease_ontology Crusted scabies (disorder) SNOMEDCT_2005_07_31:128870005 A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm (Scabies (& [Norwegian])) or (sarcoptic itch) SNOMEDCT_2005_07_31:187215008 NCI2004_11_17:C34855 Norwegian Scabies parietal lobe neoplasm A cerebrum cancer that is located_in the parietal lobe. DOID:14383 DOID:14384 ICD10CM:C71.3 ICD9CM:191.3 NCI:C5573 SNOMEDCT_US_2015_03_01:126956001 SNOMEDCT_US_2015_03_01:363469001 SNOMEDCT_US_2015_03_01:93946000 UMLS_CUI:C0153637 UMLS_CUI:C1263888 disease_ontology malignant neoplasm of parietal lobe tumor of Parietal Lobe NCI2004_11_17:C5573 tumor of Parietal Lobe A cerebrum cancer that is located_in the parietal lobe. url:http://en.wikipedia.org/wiki/Parietal_lobe pyuria DOID:1439 MSH:D011776 Pus cells in urine Pus cells in urine (finding) Pyuria (finding) SNOMEDCT_US_2015_03_01:144593007 SNOMEDCT_US_2015_03_01:167358001 SNOMEDCT_US_2015_03_01:275765006 SNOMEDCT_US_2015_03_01:4800001 UMLS_CUI:C0034359 disease_ontology Pus cells in urine SNOMEDCT_2005_07_31:167358001 Pus cells in urine (finding) SNOMEDCT_2005_07_31:275765006 Pus cells in urine SNOMEDCT_2005_07_31:144593007 Pyuria (finding) SNOMEDCT_2005_07_31:4800001 thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. DOID:14392 ICD10CM:I82.1 ICD9CM:453.1 SNOMEDCT_US_2015_03_01:155456002 SNOMEDCT_US_2015_03_01:155491005 SNOMEDCT_US_2015_03_01:31268005 Thrombophlebitis migrans (disorder) UMLS_CUI:C0152250 disease_ontology A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. url:http://en.wikipedia.org/wiki/Thrombophlebitis SNOMEDCT_2005_07_31:31268005 Thrombophlebitis migrans (disorder) protozoal dysentery A dysentery that involves protozoan infection. DOID:14397 ICD10CM:A07.8 ICD9CM:007.8 SNOMEDCT_US_2015_03_01:186127007 SNOMEDCT_US_2015_03_01:187279007 UMLS_CUI:C0152507 disease_ontology A dysentery that involves protozoan infection. url:http://en.wikipedia.org/wiki/Dysentery Machado-Joseph disease An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. Azorean disease (disorder) DOID:1440 MJD MSH:D017827 NCI:C84830 OMIM mapping confirmed by DO. [SN]. OMIM:109150 SNOMEDCT_US_2015_03_01:91952008 UMLS_CUI:C0024408 disease_ontology spinocerebellar ataxia 3 spinocerebellar ataxia type 3 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease url:http://omim.org/entry/109150 url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract Azorean disease (disorder) SNOMEDCT_2005_07_31:91952008 capillary leak syndrome Capillary leak syndrome (disorder) DOID:14400 MSH:D019559 NCI:C62578 SNOMEDCT_US_2015_03_01:87730004 UMLS_CUI:C0343084 disease_ontology Capillary leak syndrome (disorder) SNOMEDCT_2005_07_31:87730004 cutis marmorata Cutis Marmorata Cutis marmorata (disorder) DOID:14401 disease_ontology true Cutis marmorata (disorder) SNOMEDCT_2005_07_31:26825009 Cutis Marmorata NCI2004_11_17:C3923 critical illness polyneuropathy Critical illness polyneuropathy Critical illness polyneuropathy (disorder) DOID:14402 ICD10CM:G62.81 ICD9CM:357.82 MSH:D011115 SNOMEDCT_US_2015_03_01:230594005 UMLS_CUI:C0393851 disease_ontology Critical illness polyneuropathy (disorder) SNOMEDCT_2005_07_31:230594005 Critical illness polyneuropathy ICD9CM_2006:357.82 autosomal dominant cerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. DOID:1441 DOID:2478 ICD9CM:334.3 MSH:D020754 NCI:C82341 SNOMEDCT_US_2015_03_01:129609000 UMLS_CUI:C0029534 UMLS_CUI:C0087012 disease_ontology spinocerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.ncbi.nlm.nih.gov/books/NBK22234/ labyrinthine bilateral reactive loss Bilateral loss of labyrinthine reactivity (disorder) DOID:14413 ICD9CM:386.56 Labyrinthine bilateral reactive loss (disorder) Loss of labyrinthine reactivity, bilateral SNOMEDCT_US_2015_03_01:194377001 SNOMEDCT_US_2015_03_01:2058001 UMLS_CUI:C0155520 disease_ontology Labyrinthine bilateral reactive loss (disorder) SNOMEDCT_2005_07_31:194377001 ICD9CM_2006:386.56 Loss of labyrinthine reactivity, bilateral Bilateral loss of labyrinthine reactivity (disorder) SNOMEDCT_2005_07_31:2058001 Legg-Calve-Perthes Disease An osteochondrosis that results_in death and fracture located_in hip joint. Calve - Perthes' disease Coxa plana DOID:14415 DOID:14561 ICD10CM:M91.2 ICD10CM:M91.3 Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis (disorder) Legg-Calve-Perthes Symptom MSH:D007873 NCI2009_04D:C34766 NCI:C34766 OMIM mapping confirmed by DO. [SN]. OMIM:150600 Osteochondrosis of Legg-Calve-Perthes Perthe's disease Perthes disease Pseudocoxalgia SNOMEDCT_US_2015_03_01:111255008 SNOMEDCT_US_2015_03_01:156817009 SNOMEDCT_US_2015_03_01:15739006 SNOMEDCT_US_2015_03_01:203365001 SNOMEDCT_US_2015_03_01:203367009 SNOMEDCT_US_2015_03_01:203371007 SNOMEDCT_US_2015_03_01:203372000 SNOMEDCT_US_2015_03_01:240169001 SNOMEDCT_US_2015_03_01:240241003 SNOMEDCT_US_2015_03_01:270545000 UMLS_CUI:C0022441 UMLS_CUI:C0023234 disease_ontology juvenile osteochondrosis of hip and pelvis pseudocoxalgia Coxa plana SNOMEDCT_2005_07_31:203371007 Perthe's disease SNOMEDCT_2005_07_31:111255008 Perthe's disease SNOMEDCT_2005_07_31:203372000 Juvenile osteochondrosis of hip and/or pelvis (disorder) SNOMEDCT_2005_07_31:15739006 CSP2005:2715-2772 pseudocoxalgia Juvenile osteochond-hip/pelvis SNOMEDCT_2005_07_31:156817009 SNOMEDCT_2005_07_31:270545000 NCI2004_11_17:C34766 Perthes disease Perthe's disease SNOMEDCT_2005_07_31:240169001 MTHICD9_2006:732.1 Osteochondrosis of Legg-Calve-Perthes Calve - Perthes' disease SNOMEDCT_2005_07_31:203367009 Perthe's disease SNOMEDCT_2005_07_31:156817009 Pseudocoxalgia SNOMEDCT_2005_07_31:15739006 An osteochondrosis that results_in death and fracture located_in hip joint. url:http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/l/legg_calv_perthes_disease.aspx url:http://www.wheelessonline.com/ortho/legg_calve_perthes_disease Perthe's disease SNOMEDCT_2005_07_31:270545000 dracunculiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. DOID:14418 Dracontiasis ICD10CM:B72 ICD9CM:125.7 Infection by Dracunculus medinensis Infection by Dracunculus medinensis (disorder) MSH:D004320 NCI:C84677 SNOMEDCT_US_2015_03_01:396334002 SNOMEDCT_US_2015_03_01:48874008 UMLS_CUI:C0013100 disease_ontology Dracontiasis ICD9CM_2006:125.7 Infection by Dracunculus medinensis (disorder) SNOMEDCT_2005_07_31:396334002 Infection by Dracunculus medinensis (disorder) SNOMEDCT_2005_07_31:48874008 Infection by Dracunculus medinensis MTHICD9_2006:125.7 A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. url:http://en.wikipedia.org/wiki/Dracunculiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. DOID:14419 Filariasis ozzardi infection Mansonella Ozzardi Infection Ozzardian filariasis (disorder) disease_ontology true Mansonella Ozzardi Infection NCI2004_11_17:C34612 Ozzardian filariasis (disorder) SNOMEDCT_2005_07_31:30865009 A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Filariasis ozzardi infection ICD9CM_2006:125.5 Alpers syndrome A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY ALPERS-HUTTENLOCHER SYNDROME Alper's syndrome Alpers' disease or gray-matter degeneration DOID:1442 ICD10CM:G31.81 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A MSH:D002549 NCI:C35257 OMIM mapping confirmed by DO. [SN]. OMIM:203700 SNOMEDCT_US_2015_03_01:20415001 UMLS_CUI:C0205710 disease_ontology progressive sclerosing poliodystrophy (disorder) Alpers' disease or gray-matter degeneration MTHICD9_2006:330.8 SNOMEDCT_2005_07_31:20415001 progressive sclerosing poliodystrophy (disorder) A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. url:http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm Alper's syndrome NCI2004_11_17:C35257 Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. DOID:14421 Infection by Brugia malayi (disorder) Infection due to Wuchereria malayi Malayan filariasis brugia filariasis due to brugia malayi disease_ontology true A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. url:http://en.wikipedia.org/wiki/Brugia_malayi url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm ICD9CM_2006:125.1 Malayan filariasis Infection by Brugia malayi (disorder) SNOMEDCT_2005_07_31:76999009 Infection due to Wuchereria malayi MTHICD9_2006:125.1 dipetalonemiasis A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. DOID:14422 ICD9CM:125.4 Infection by Dipetalonema (disorder) Infection by Dipetalonema perstans Infection by Dipetalonema perstans (disorder) Infection by Dipetalonema perstans (disorder) [Ambiguous] MSH:D004154 NCI:C34540 SNOMEDCT_US_2015_03_01:15629006 SNOMEDCT_US_2015_03_01:360423002 SNOMEDCT_US_2015_03_01:40229007 UMLS_CUI:C0012517 dipetalonema infectious disease disease_ontology Infection by Dipetalonema perstans (disorder) [Ambiguous] SNOMEDCT_2005_07_31:40229007 Infection by Dipetalonema (disorder) SNOMEDCT_2005_07_31:15629006 Infection by Dipetalonema perstans MTHICD9_2006:125.4 A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false Infection by Dipetalonema perstans (disorder) SNOMEDCT_2005_07_31:360423002 glossopharyngeal neuralgia DOID:14423 Glossopharyngeal neuralgia Glossopharyngeal neuralgia (disorder) ICD10CM:G52.1 ICD9CM:352.1 MSH:D020435 SNOMEDCT_US_2015_03_01:43763009 UMLS_CUI:C0154731 disease_ontology Glossopharyngeal neuralgia ICD9CM_2006:352.1 Glossopharyngeal neuralgia (disorder) SNOMEDCT_2005_07_31:43763009 secondary malignant neoplasm of intra-abdominal lymph node DOID:14425 disease_ontology metastasis to intra-abdominal lymph node secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder) secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder) secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) true SNOMEDCT_2005_07_31:188405002 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:154559003 metastasis to intra-abdominal lymph node ICD9CM_2006:196.2 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:94347008 secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188411004 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder) secondary malignant neoplasm of intrathoracic lymph node DOID:14426 disease_ontology metastasis to intrathoracic lymph node secondary and unspecified malignant neoplasm of intrathoracic lymph nodes secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder) secondary malignant neoplasm of intrathoracic lymph nodes (disorder) true SNOMEDCT_2005_07_31:154558006 metastasis to intrathoracic lymph node SNOMEDCT_2005_07_31:94351005 secondary malignant neoplasm of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188393004 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188404003 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder) ICD9CM_2006:196.1 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes abnormality of glucagon secretion DOID:14427 Glucagon secretion abnormality NOS (disorder) ICD9CM:251.4 SNOMEDCT_US_2015_03_01:11178005 SNOMEDCT_US_2015_03_01:190442008 UMLS_CUI:C0154191 abnormality of secretion of glucagon abnormality of secretion of glucagon (disorder) disease_ontology SNOMEDCT_2005_07_31:11178005 abnormality of secretion of glucagon (disorder) Glucagon secretion abnormality NOS (disorder) SNOMEDCT_2005_07_31:190442008 ICD9CM_2006:251.4 abnormality of secretion of glucagon cerebral degeneration Brain degeneration DOID:1443 ICD9CM:331.9 SNOMEDCT_US_2015_03_01:154994001 SNOMEDCT_US_2015_03_01:154998003 SNOMEDCT_US_2015_03_01:192824002 SNOMEDCT_US_2015_03_01:267579001 SNOMEDCT_US_2015_03_01:267686002 SNOMEDCT_US_2015_03_01:267688001 SNOMEDCT_US_2015_03_01:418143002 SNOMEDCT_US_2015_03_01:52522001 SNOMEDCT_US_2015_03_01:73768007 UMLS_CUI:C0154671 disease_ontology Brain degeneration SNOMEDCT_2005_07_31:267686002 enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. DOID:14433 Verotoxigenic Escherichia coli gastrointestinal tract infection Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) disease_ontology intestinal infection due to enterohemorrhagic E. coli true SNOMEDCT_2005_07_31:240354007 Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. url:http://www.textbookofbacteriology.net/e.coli_4.html ICD9CM_2006:008.04 intestinal infection due to enterohemorrhagic E. coli SNOMEDCT_2005_07_31:186133003 Verotoxigenic Escherichia coli gastrointestinal tract infection enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. DOID:14434 Enterotoxigenic Escherichia coli gastrointestinal tract infection Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder) disease_ontology intestinal infection due to enterotoxigenic E. coli true ICD9CM_2006:008.02 intestinal infection due to enterotoxigenic E. coli Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240352006 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. url:http://www.textbookofbacteriology.net/e.coli_4.html Enterotoxigenic Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186131001 chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. DOID:14435 ICD10CM:H66.1 ICD10CM:H66.10 ICD9CM:382.1 SNOMEDCT_US_2015_03_01:87665008 UMLS_CUI:C0155440 chronic tubotympanic suppurative otitis media (disorder) disease_ontology SNOMEDCT_2005_07_31:87665008 chronic tubotympanic suppurative otitis media (disorder) A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false cholinergic urticaria An urticaria induced by sweating. DOID:14443 ICD10CM:L50.5 ICD9CM:708.5 SNOMEDCT_US_2015_03_01:73098005 UMLS_CUI:C0152230 disease_ontology An urticaria induced by sweating. url:http://en.wikipedia.org/wiki/Cholinergic_urticaria url:www.dermnetnz.org/reactions/urticaria.html sclerosing keratitis DOID:14444 ICD10CM:H16.33 ICD9CM:370.54 SNOMEDCT_US_2015_03_01:194143001 SNOMEDCT_US_2015_03_01:27886001 SNOMEDCT_US_2015_03_01:417290008 Sclerokeratitis Sclerokeratitis (disorder) Sclerosing keratitis (disorder) UMLS_CUI:C0155090 disease_ontology SNOMEDCT_2005_07_31:27886001 Sclerosing keratitis (disorder) SNOMEDCT_2005_07_31:194143001 Sclerokeratitis SNOMEDCT_2005_07_31:417290008 Sclerokeratitis (disorder) chronic closed-angle glaucoma Anatomical narrow angle glaucoma DOID:14445 ICD10CM:H40.22 ICD9CM:365.23 SNOMEDCT_US_2015_03_01:15417005 SNOMEDCT_US_2015_03_01:314542007 SNOMEDCT_US_2015_03_01:33647009 UMLS_CUI:C0154947 chronic angle-closure glaucoma chronic narrow angle glaucoma disease_ontology Anatomical narrow angle glaucoma MTH:NOCODE SNOMEDCT_2005_07_31:15417005 chronic angle-closure glaucoma SNOMEDCT_2005_07_31:33647009 chronic narrow angle glaucoma ICD9CM_2006:365.23 chronic angle-closure glaucoma gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. DOID:14447 Gonadal dysgenesis syndrome ICD9CM:758.6 MSH:D006059 NCI:C26900 NCI:C61420 SNOMEDCT_US_2015_03_01:157020008 SNOMEDCT_US_2015_03_01:205681004 SNOMEDCT_US_2015_03_01:205692003 SNOMEDCT_US_2015_03_01:205695001 SNOMEDCT_US_2015_03_01:268356004 SNOMEDCT_US_2015_03_01:38804009 UMLS_CUI:C0018051 disease_ontology A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/Gonadal_dysgenesis Gonadal dysgenesis syndrome SNOMEDCT_2005_07_31:38804009 46 XY gonadal dysgenesis 46,XY SEX REVERSAL A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. DOID:14448 MSH:D006061 OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. OMIM:154230 OMIM:233420 OMIM:300018 OMIM:400044 OMIM:612965 OMIM:613080 OMIM:613762 OMIM:614279 Pure gonadal dysgenesis 46,XY (disorder) UMLS_CUI:C0018054 disease_ontology Pure gonadal dysgenesis 46,XY (disorder) SNOMEDCT_2005_07_31:95218005 A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis mixed gonadal dysgenesis DOID:14449 MSH:D006060 SNOMEDCT_US_2015_03_01:205682006 SNOMEDCT_US_2015_03_01:83579008 UMLS_CUI:C0018055 disease_ontology 46 XX gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. DOID:14450 MSH:D023961 OMIM mapping confirmed by DO. [LS]. OMIM:233300 OMIM:278850 OMIM:300833 OMIM:400045 OMIM:614324 ORDO:243 UMLS_CUI:C0949595 disease_ontology A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 hyperkalemic periodic paralysis DOID:14451 ICD10CM:G72.3 MSH:D020513 OMIM mapping confirmed by DO. [SN]. OMIM:170500 SNOMEDCT_US_2015_03_01:15973007 SNOMEDCT_US_2015_03_01:278513006 SNOMEDCT_US_2015_03_01:304737009 UMLS_CUI:C0238357 disease_ontology familial hyperkalemic periodic paralysis (disorder) familial hyperkalemic periodic paralysis (disorder) [Ambiguous] hyperkalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:304737009 familial hyperkalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:15973007 familial hyperkalemic periodic paralysis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:278513006 hyperkalemic periodic paralysis (disorder) hypokalemic periodic paralysis DOID:14452 Hypokalemic familial periodic paralysis Hypokalemic periodic paralysis (disorder) ICD10CM:G72.3 MSH:D020514 NCI:C84775 OMIM mapping confirmed by DO. [SN]. OMIM:170400 OMIM:613345 Periodic paralysis I SNOMEDCT_US_2015_03_01:193241004 SNOMEDCT_US_2015_03_01:240093008 SNOMEDCT_US_2015_03_01:82732003 UMLS_CUI:C0238358 disease_ontology familial hypokalemic periodic paralysis (disorder) familial periodic paralysis (& [hypokalaemic]) periodic hypokalemic paralysis CSP2005:1849-3266 periodic hypokalemic paralysis Hypokalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:240093008 Periodic paralysis I SNOMEDCT_2005_07_31:54696002 SNOMEDCT_2005_07_31:82732003 familial hypokalemic periodic paralysis (disorder) Hypokalemic familial periodic paralysis MTHICD9_2006:359.3 SNOMEDCT_2005_07_31:193241004 familial periodic paralysis (& [hypokalaemic]) farmer's lung An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. DOID:14453 Farmers lung ICD10CM:J67.0 ICD9CM:495.0 MSH:D005203 NCI:C34605 SNOMEDCT_US_2015_03_01:155581001 SNOMEDCT_US_2015_03_01:18690003 SNOMEDCT_US_2015_03_01:266399001 UMLS_CUI:C0015634 disease_ontology farmer lung Farmers lung SNOMEDCT_2005_07_31:266399001 An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. DOID:14456 ICD10CM:A23.0 ICD9CM:023.0 SNOMEDCT_US_2015_03_01:186305007 SNOMEDCT_US_2015_03_01:30789005 SNOMEDCT_US_2015_03_01:427999003 UMLS_CUI:C0302362 disease_ontology A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. url:http://www.bmj.com/cgi/reprint/1/5644/612.pdf Brucella abortus brucellosis A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. DOID:14457 ICD10CM:A23.1 ICD9CM:023.1 MSH:D002007 SNOMEDCT_US_2015_03_01:186306008 SNOMEDCT_US_2015_03_01:427795000 SNOMEDCT_US_2015_03_01:9060000 UMLS_CUI:C0302363 disease_ontology A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10790142 hemangioma of orbit Angioma of the orbit DOID:14459 NCI:C6245 UMLS_CUI:C1335128 disease_ontology Angioma of the orbit NCI2004_11_17:C6245 cavernous hemangioma of orbit Cavernous Angioma of orbit DOID:14463 NCI:C4546 SNOMEDCT_US_2015_03_01:254998002 UMLS_CUI:C0346352 disease_ontology Cavernous Angioma of orbit NCI2004_11_17:C4546 neuroleptic malignant syndrome DOID:14464 ICD10CM:G21.0 ICD9CM:333.92 MSH:D009459 NCI:C94829 ORDO:94093 SNOMEDCT_US_2015_03_01:15244003 SNOMEDCT_US_2015_03_01:192826000 SNOMEDCT_US_2015_03_01:68977009 UMLS_CUI:C0027849 disease_ontology drug-induced persisting amnestic disease DOID:14467 disease_ontology true hantavirus pulmonary syndrome A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. DOID:14472 MSH:D018804 NCI:C84747 SNOMEDCT_US_2015_03_01:120639003 UMLS_CUI:C0243025 disease_ontology A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10742726 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. DOID:14473 Pneumonia due to adenovirus disease_ontology true An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. url:http://en.wikipedia.org/wiki/Adenovirus_infection url:http://virology-online.com/viruses/Adenoviruses3.htm url:http://www.ajronline.org/cgi/reprint/186/5/1288.pdf ICD9CM_2006:480.0 Pneumonia due to adenovirus respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. DOID:14474 Pneumonia due to respiratory syncytial virus (disorder) disease_ontology true Pneumonia due to respiratory syncytial virus (disorder) SNOMEDCT_2005_07_31:195881003 A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. url:http://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false url:http://www.cdc.gov/RSV/ url:http://www.merck.com/mmhe/sec23/ch273/ch273i.htm parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. DOID:14475 Parainfluenza virus pneumonia (disorder) disease_ontology true Parainfluenza virus pneumonia (disorder) SNOMEDCT_2005_07_31:64917006 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. url:http://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false url:http://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. DOID:14476 SARS-associated coronavirus pneumonia disease_ontology true A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. url:http://en.wikipedia.org/wiki/SARS url:http://www.doh.gov.ph/sars/may16.pdf Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. Cytomegaloviral pneumonia (disorder) DOID:14477 disease_ontology true Cytomegaloviral pneumonia (disorder) SNOMEDCT_2005_07_31:7678002 A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. url:http://www.nlm.nih.gov/medlineplus/ency/article/000664.htm herpes gestationis DOID:14482 Gestational herpes Herpes gestationis Herpes gestationis (disorder) Herpes gestationis NOS (disorder) Herpes gestationis unspecified (disorder) ICD10CM:O26.4 ICD10CM:O26.40 MSH:D006559 NCI:C85003 SNOMEDCT_US_2015_03_01:156129002 SNOMEDCT_US_2015_03_01:199126002 SNOMEDCT_US_2015_03_01:199131000 SNOMEDCT_US_2015_03_01:270959002 SNOMEDCT_US_2015_03_01:86081009 UMLS_CUI:C0019343 disease_ontology Gestational herpes SNOMEDCT_2005_07_31:270959002 Herpes gestationis NOS (disorder) SNOMEDCT_2005_07_31:199131000 Gestational herpes SNOMEDCT_2005_07_31:156129002 Herpes gestationis unspecified (disorder) SNOMEDCT_2005_07_31:199126002 Herpes gestationis (disorder) SNOMEDCT_2005_07_31:86081009 Herpes gestationis MTHICD9_2006:646.8 chorea gravidarum Chorea gravidarum (disorder) DOID:14483 MSH:D020150 SNOMEDCT_US_2015_03_01:25113000 UMLS_CUI:C0264746 disease_ontology Chorea gravidarum (disorder) SNOMEDCT_2005_07_31:25113000 sporotrichosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. DOID:14484 ICD10CM:B42 ICD10CM:B42.9 ICD9CM:117.1 MSH:D013174 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:187078008 SNOMEDCT_US_2015_03_01:187488001 SNOMEDCT_US_2015_03_01:266218008 SNOMEDCT_US_2015_03_01:42094007 UMLS_CUI:C0038034 disease_ontology A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. url:http://www.nyhealth.gov/diseases/communicable/sporotrichosis/fact_sheet.htm ureteral lymphoma DOID:14489 NCI:C6175 UMLS_CUI:C1336876 disease_ontology lymphoma of ureter ureteral Lymphoma NCI2004_11_17:C6175 ureteral Lymphoma metastasis to the ureter DOID:14490 disease_ontology metastatic neoplasm to the Ureter secondary malignant neoplasm of ureter (disorder) true SNOMEDCT_2005_07_31:94659001 secondary malignant neoplasm of ureter (disorder) NCI2004_11_17:C7544 metastatic neoplasm to the Ureter regional ureteric cancer DOID:14491 NCI:C8716 NCI:C9356 UMLS_CUI:C0854921 disease_ontology regional Ureteric carcinoma regional malignant ureteral tumor NCI2004_11_17:C8716 regional malignant ureteral tumor NCI2004_11_17:C9356 regional Ureteric carcinoma metastatic neoplasm of ureter DOID:14492 Ureter metastatic malignant neoplasm disease_ontology true NCI2004_11_17:C27818 Ureter metastatic malignant neoplasm dumping syndrome DOID:14495 Dumping (jejunal) syndrome ICD10CM:K91.1 Jejunal syndrome MSH:D004377 NCI:C2994 SNOMEDCT_US_2015_03_01:155785007 SNOMEDCT_US_2015_03_01:197128007 SNOMEDCT_US_2015_03_01:266458008 SNOMEDCT_US_2015_03_01:266527005 SNOMEDCT_US_2015_03_01:80193009 UMLS_CUI:C0013288 disease_ontology Dumping (jejunal) syndrome SNOMEDCT_2005_07_31:197128007 Jejunal syndrome MTHICD9_2006:564.2 Wolman disease Acid esterase deficiency Acid lipase deficiency, NOS DOID:14497 ICD10CM:E75.5 MSH:D015223 NCI:C61271 SNOMEDCT_US_2015_03_01:190795007 SNOMEDCT_US_2015_03_01:190797004 SNOMEDCT_US_2015_03_01:238074007 SNOMEDCT_US_2015_03_01:37896002 SNOMEDCT_US_2015_03_01:82500001 UMLS_CUI:C0043208 Wolman xanthomatosis Wolman's disease (disorder) Wolman's or triglyceride storage type III disease Xanthomatosis, familial Xanthomatosis, familial (disorder) disease_ontology Acid lipase deficiency, NOS SNOMEDCT_2005_07_31:37896002 MTHICD9_2006:272.7 Wolman's or triglyceride storage type III disease SNOMEDCT_2005_07_31:190797004 Xanthomatosis, familial SNOMEDCT_2005_07_31:82500001 Wolman's disease (disorder) CSP2005:1849-5821 Wolman xanthomatosis SNOMEDCT_2005_07_31:238074007 Xanthomatosis, familial (disorder) Acid esterase deficiency SNOMEDCT_2005_07_31:190795007 lipoid proteinosis DOID:14498 Lipid proteinosis (disorder) Lipoid proteinosis MSH:D008065 NCI:C84829 OMIM mapping confirmed by DO. [SN]. OMIM:247100 SNOMEDCT_US_2015_03_01:238950006 SNOMEDCT_US_2015_03_01:38692000 UMLS_CUI:C0023795 URBACH-WIETHE DISEASE disease_ontology Lipoid proteinosis SNOMEDCT_2005_07_31:238950006 Lipid proteinosis (disorder) SNOMEDCT_2005_07_31:38692000 Fabry disease Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum DOID:14499 Fabry's disease Fabry's disease (disorder) ICD10CM:E75.21 MSH:D000795 NCI:C27528 NCI:C84701 OMIM mapping confirmed by DO. [SN]. OMIM:301500 SNOMEDCT_US_2015_03_01:124464003 SNOMEDCT_US_2015_03_01:16652001 SNOMEDCT_US_2015_03_01:190792005 SNOMEDCT_US_2015_03_01:190796008 SNOMEDCT_US_2015_03_01:236536000 UMLS_CUI:C0002986 alpha galactosidase deficiency deficiency of melibiase disease_ontology Angiokeratoma Corporis Diffusum NCI2004_11_17:C27528 Alpha-galactosidase A deficiency SNOMEDCT_2005_07_31:236536000 Fabry's disease MTHICD9_2006:272.7 Alpha-galactosidase A deficiency SNOMEDCT_2005_07_31:190796008 SNOMEDCT_2005_07_31:124464003 deficiency of melibiase Fabry's disease (disorder) SNOMEDCT_2005_07_31:16652001 CSP2005:1849-9034 alpha galactosidase deficiency Fabry's disease SNOMEDCT_2005_07_31:190792005 papilledema associated with retinal disorder DOID:145 disease_ontology true fucosidosis A-fucosidase deficiency DOID:14500 Fucosidosis (disorder) ICD10CM:E77.1 MSH:D005645 NCI:C61274 OMIM mapping confirmed by DO. [SN]. OMIM:230000 SNOMEDCT_US_2015_03_01:190937009 SNOMEDCT_US_2015_03_01:64716005 UMLS_CUI:C0016788 alpha fucosidase deficiency disease_ontology A-fucosidase deficiency SNOMEDCT_2005_07_31:190937009 Fucosidosis (disorder) SNOMEDCT_2005_07_31:64716005 CSP2005:1849-8519 alpha fucosidase deficiency Sjogren-Larsson syndrome DOID:14501 MSH:D016111 NCI:C85070 OMIM mapping confirmed by DO. [LS]. OMIM:270200 SNOMEDCT_US_2015_03_01:111303009 SNOMEDCT_US_2015_03_01:205549003 Sjogren Larsson syndrome Sjogren-Larsson syndrome (disorder) Sjogren-Larsson's syndrome UMLS_CUI:C0037231 disease_ontology CSP2005:0726-9470 Sjogren Larsson syndrome CSP2005:1840-2225 Sjogren Larsson syndrome SNOMEDCT_2005_07_31:111303009 Sjogren-Larsson syndrome (disorder) CSP2005:2057-3666 Sjogren Larsson syndrome SNOMEDCT_2005_07_31:205549003 Sjogren-Larsson's syndrome cholesterol ester storage disease DOID:14502 MSH:D015217 SNOMEDCT_US_2015_03_01:57218003 UMLS_CUI:C0008384 disease_ontology neuronal ceroid lipofuscinosis DOID:14503 ICD10CM:E75.4 MSH:D009472 NCI:C61257 OMIM:162350 OMIM:204200 OMIM:204300 OMIM:204500 OMIM:256730 OMIM:256731 OMIM:600143 OMIM:601780 OMIM:609055 OMIM:610003 OMIM:610127 OMIM:610951 OMIM:614706 OMIM:615362 ORDO:216 ORDO:79262 SNOMEDCT_US_2015_03_01:42012007 UMLS_CUI:C0027877 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. disease_ontology hereditary ceroid lipofuscinosis neuronal ceroid lipofuscinosis (disorder) CSP2005:1849-6833 hereditary ceroid lipofuscinosis SNOMEDCT_2005_07_31:42012007 neuronal ceroid lipofuscinosis (disorder) Niemann-Pick disease DOID:0050442 DOID:0050443 DOID:14504 DOID:14770 ICD10CM:E75.24 ICD10CM:E75.242 ICD10CM:E75.249 MSH:D009542 MSH:D052556 NCI:C61269 NCI:C85214 NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C OMIM mapping confirmed by DO. [SN]. OMIM:257200 OMIM:257220 OMIM:607616 OMIM:607625 SNOMEDCT_US_2015_03_01:58459009 SNOMEDCT_US_2015_03_01:66751000 SPHINGOMYELIN LIPIDOSIS Sphingomyelinase Deficiency Disease Type A Niemann-Pick Disease UMLS_CUI:C0028064 UMLS_CUI:C0220756 disease_ontology lipoid histiocytosis (classical phosphatide) CSP2005:1849-9151 lipoid histiocytosis (classical phosphatide) peripheral degeneration of cornea DOID:14507 ICD10CM:H18.46 ICD9CM:371.48 SNOMEDCT_US_2015_03_01:89182000 UMLS_CUI:C0155123 disease_ontology peripheral degeneration of cornea (disorder) peripheral degenerations of cornea ICD9CM_2006:371.48 peripheral degenerations of cornea SNOMEDCT_2005_07_31:89182000 peripheral degeneration of cornea (disorder) candidal paronychia A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. Candidiasis of skin (disorder) Candidiasis of skin and nails (disorder) Candidiasis of skin and nails NOS (disorder) DOID:14511 DOID:14512 ICD10CM:B37.2 ICD9CM:112.3 SNOMEDCT_US_2015_03_01:187014000 SNOMEDCT_US_2015_03_01:187018002 UMLS_CUI:C0006842 candidiasis of skin and nails disease_ontology A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. url:http://emedicine.medscape.com/article/1090632-overview url:http://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm Candidiasis of skin and nails NOS (disorder) SNOMEDCT_2005_07_31:187018002 Candidiasis of skin (disorder) SNOMEDCT_2005_07_31:49883006 Candidiasis of skin and nails (disorder) SNOMEDCT_2005_07_31:187014000 WAGR syndrome 11p partial monosomy syndrome (disorder) A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. DOID:14515 MSH:D017624 NCI:C3718 OMIM mapping confirmed by DO. [LS]. OMIM:194072 SNOMEDCT_US_2015_03_01:4135001 UMLS_CUI:C0206115 Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome disease_ontology A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. url:http://en.wikipedia.org/wiki/WAGR_syndrome 11p partial monosomy syndrome (disorder) SNOMEDCT_2005_07_31:4135001 NCI2004_11_17:C3718 Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome Idiopathic cysts of iris and ciliary body DOID:14518 disease_ontology true adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. DOID:14520 Enteritis due to adenovirus adenoviral enteritis disease_ontology true An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. url:http://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf Enteritis due to adenovirus ICD9CM_2006:008.62 cutaneous breast cancer DOID:14521 cutaneous breast cancer disease_ontology true NCI2004_11_17:C28311 cutaneous breast cancer partial arterial retinal occlusion DOID:14522 ICD10CM:H34.21 ICD10CM:H34.219 ICD9CM:362.33 NCI:C35192 Partial Retinal Arterial Occlusion Partial arterial retinal occlusion (disorder) Partial retinal arterial occlusion Retinal partial arterial occlusion NOS (disorder) SNOMEDCT_US_2015_03_01:193376004 SNOMEDCT_US_2015_03_01:776009 UMLS_CUI:C0154839 disease_ontology Retinal partial arterial occlusion NOS (disorder) SNOMEDCT_2005_07_31:193376004 Partial arterial retinal occlusion (disorder) SNOMEDCT_2005_07_31:776009 ICD9CM_2006:362.33 Partial retinal arterial occlusion NCI2004_11_17:C35192 Partial Retinal Arterial Occlusion Argyll Robertson pupil Argyll Robertson phenomenon or pupil, nonsyphilitic Argyll Robertson pupil, atypical Atypical Argyll-Robertson pupil (disorder) DOID:14523 ICD10CM:H57.01 ICD9CM:379.45 SNOMEDCT_US_2015_03_01:21011008 UMLS_CUI:C0155375 disease_ontology Argyll Robertson pupil, atypical ICD9CM_2006:379.45 Atypical Argyll-Robertson pupil (disorder) SNOMEDCT_2005_07_31:21011008 senile degeneration of brain DOID:14524 ICD9CM:331.2 SNOMEDCT_US_2015_03_01:154995000 SNOMEDCT_US_2015_03_01:154996004 SNOMEDCT_US_2015_03_01:192804001 SNOMEDCT_US_2015_03_01:267687006 SNOMEDCT_US_2015_03_01:45864009 Senile brain degen. Senile degeneration of brain (disorder) UMLS_CUI:C0154669 disease_ontology SNOMEDCT_2005_07_31:267687006 Senile brain degen. SNOMEDCT_2005_07_31:45864009 Senile degeneration of brain (disorder) SNOMEDCT_2005_07_31:154995000 Senile brain degen. Reye syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. DOID:14525 ICD10CM:G93.7 ICD9CM:331.81 MSH:D012202 NCI:C34983 Reye's syndrome Reye's syndrome (disorder) SNOMEDCT_US_2015_03_01:154998003 SNOMEDCT_US_2015_03_01:267688001 SNOMEDCT_US_2015_03_01:74351001 UMLS_CUI:C0035400 disease_ontology Reye's syndrome SNOMEDCT_2005_07_31:154998003 Reye's syndrome (disorder) SNOMEDCT_2005_07_31:74351001 Reye's syndrome SNOMEDCT_2005_07_31:267688001 NCI2004_11_17:C34983 Reye's syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. PMID:2680560 url:https://en.wikipedia.org/wiki/Reye_syndrome ICD9CM_2006:331.81 Reye's syndrome CSP2005:0944-8104 Reye's syndrome external pathological resorption DOID:14529 ICD10CM:K03.3 ICD9CM:521.42 SNOMEDCT_US_2015_03_01:41918006 SNOMEDCT_US_2015_03_01:43079004 UMLS_CUI:C0266878 disease_ontology atrophic glossitis Atrophy of tongue papillae DOID:1453 Glossitis, Hunter's Hunter's glossitis ICD10CM:K14.4 ICD9CM:529.4 SNOMEDCT_US_2015_03_01:196585008 SNOMEDCT_US_2015_03_01:196586009 SNOMEDCT_US_2015_03_01:196588005 SNOMEDCT_US_2015_03_01:196589002 SNOMEDCT_US_2015_03_01:50644009 SNOMEDCT_US_2015_03_01:69279006 SNOMEDCT_US_2015_03_01:9491003 UMLS_CUI:C0155964 disease_ontology smooth atrophic tongue Hunter's glossitis SNOMEDCT_2005_07_31:50644009 Glossitis, Hunter's MTHICD9_2006:529.4 Atrophy of tongue papillae SNOMEDCT_2005_07_31:196588005 syringomyelia and syringobulbia DOID:14530 Syringomyelia and syringobulbia (disorder) disease_ontology true SNOMEDCT_2005_07_31:192894009 Syringomyelia and syringobulbia (disorder) malignant cardiac peripheral nerve sheath neoplasm DOID:14534 MPNST of Heart NCI:C5367 UMLS_CUI:C1334569 disease_ontology MPNST of Heart NCI2004_11_17:C5367 malignant cardiac germ cell tumor DOID:14535 NCI:C5371 UMLS_CUI:C1334566 disease_ontology malignant germ cell tumor of the Heart NCI2004_11_17:C5371 malignant germ cell tumor of the Heart metastasis to heart DOID:14539 disease_ontology metastatic tumor to the Heart secondary malignant neoplasm of heart (disorder) true SNOMEDCT_2005_07_31:94327000 secondary malignant neoplasm of heart (disorder) NCI2004_11_17:C4889 metastatic tumor to the Heart macular or paramacular focal retinitis and retinochoroiditis DOID:14542 disease_ontology true rete testis adenocarcinoma A rete testis neoplasm that derives_from epithelial cells of glandular origin. DOID:14544 NCI:C8955 UMLS_CUI:C0863024 adenocarcinoma of rete testis adenocarcinoma of the rete testis disease_ontology A rete testis neoplasm that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C8955 adenocarcinoma of the rete testis seminal vesicle adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. DOID:14545 NCI:C39906 UMLS_CUI:C1519233 disease_ontology A male reproductive organ cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma sphenoidal sinus cancer DOID:14546 ICD10CM:C31.3 ICD9CM:160.5 NCI:C3543 SNOMEDCT_US_2015_03_01:363428005 SNOMEDCT_US_2015_03_01:94067008 UMLS_CUI:C0153479 disease_ontology malignant tumor of Sphenoidal sinus malignant tumor of sphenoid sinus (disorder) NCI2004_11_17:C3543 malignant tumor of Sphenoidal sinus SNOMEDCT_2005_07_31:363428005 malignant tumor of sphenoid sinus (disorder) sphenoid sinus squamous cell carcinoma DOID:14547 Epidermoid carcinoma of the Sphenoidal sinus NCI:C6066 UMLS_CUI:C1336039 disease_ontology Epidermoid carcinoma of the Sphenoidal sinus NCI2004_11_17:C6066 steroid-induced glaucoma - borderline Borderline glaucoma steroid responder (disorder) DOID:14548 ICD9CM:365.03 SNOMEDCT_US_2015_03_01:193535007 SNOMEDCT_US_2015_03_01:302895007 Steroid responders borderline glaucoma Steroid-induced glaucoma - borderline (disorder) UMLS_CUI:C0339572 disease_ontology ICD9CM_2006:365.03 Steroid responders borderline glaucoma Borderline glaucoma steroid responder (disorder) SNOMEDCT_2005_07_31:193535007 SNOMEDCT_2005_07_31:302895007 Steroid-induced glaucoma - borderline (disorder) Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear DOID:14549 Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) disease_ontology true SNOMEDCT_2005_07_31:89058008 Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) ICD9CM_2006:385.03 Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear geographic tongue An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. DOID:1455 Glossitis areata exfoliativa ICD10CM:A26.0 ICD10CM:K14.1 ICD9CM:529.1 MSH:D005929 NCI:C84588 OMIM mapping confirmed by DO. [SN]. OMIM:137400 Pityriasis linguae SNOMEDCT_US_2015_03_01:155667007 SNOMEDCT_US_2015_03_01:266496009 SNOMEDCT_US_2015_03_01:59032001 UMLS_CUI:C0017677 benign migratory glossitis disease_ontology Pityriasis linguae SNOMEDCT_2005_07_31:59032001 An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. url:http://en.wikipedia.org/wiki/Geographic_tongue Glossitis areata exfoliativa MTHICD9_2006:529.1 root resorption DOID:14550 MSH:D012391 UMLS_CUI:C0035851 disease_ontology Foster-Kennedy syndrome DOID:14555 ICD10CM:H47.14 ICD9CM:377.04 MSH:D009901 SNOMEDCT_US_2015_03_01:87764000 UMLS_CUI:C0152112 disease_ontology primary pulmonary hypertension A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. DOID:14557 ICD10CM:I27.0 ICD9CM:416.0 NCI:C97119 OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344 ORDO:422 SNOMEDCT_US_2015_03_01:155328008 SNOMEDCT_US_2015_03_01:26174007 SNOMEDCT_US_2015_03_01:266293003 UMLS_CUI:C0152171 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. url:http://en.wikipedia.org/wiki/Pulmonary_hypertension url:http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension nontoxic multinodular goiter DOID:14558 Non-toxic multinodular goiter (disorder) Non-toxic multinodular goitre disease_ontology true Non-toxic multinodular goiter (disorder) SNOMEDCT_2005_07_31:36241006 Non-toxic multinodular goitre SNOMEDCT_2005_07_31:154653006 anaerobic meningitis DOID:14559 ICD9CM:320.81 UMLS_CUI:C0375197 disease_ontology glossitis DOID:1456 Glossitis (disorder) Glossitis NOS (disorder) ICD10CM:K14.0 ICD9CM:529.0 MSH:D005928 NCI:C112199 SNOMEDCT_US_2015_03_01:155666003 SNOMEDCT_US_2015_03_01:196583001 SNOMEDCT_US_2015_03_01:45534005 UMLS_CUI:C0017675 disease_ontology Glossitis (disorder) SNOMEDCT_2005_07_31:45534005 Glossitis NOS (disorder) SNOMEDCT_2005_07_31:196583001 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division. DOID:0000818 DOID:14566 cell process disease disease_ontology A disease that is characterized by abnormally rapid cell division. url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation postsurgical hypothyroidism DOID:1458 ICD10CM:E89.0 ICD9CM:244.0 Post-surgical hypothyroidism Postoperative hypothyroidism (disorder) SNOMEDCT_US_2015_03_01:154662008 SNOMEDCT_US_2015_03_01:190275002 SNOMEDCT_US_2015_03_01:27059002 UMLS_CUI:C0154157 disease_ontology Post-surgical hypothyroidism SNOMEDCT_2005_07_31:154662008 Postoperative hypothyroidism (disorder) SNOMEDCT_2005_07_31:27059002 hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone. DOID:11630 DOID:1459 EFO:0004705 ICD10CM:E03.9 ICD9CM:244.9 MSH:D007037 NCI:C26800 SNOMEDCT_US_2015_03_01:154660000 SNOMEDCT_US_2015_03_01:190274003 SNOMEDCT_US_2015_03_01:190290003 SNOMEDCT_US_2015_03_01:237572004 SNOMEDCT_US_2015_03_01:267377003 SNOMEDCT_US_2015_03_01:267465007 SNOMEDCT_US_2015_03_01:40930008 Thyroid deficiency Thyroid insufficiency UMLS_CUI:C0020676 disease_ontology A thyroid gland disease which involves an underproduction of thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/ SNOMEDCT_2005_07_31:190290003 Thyroid insufficiency SNOMEDCT_2005_07_31:190274003 Thyroid deficiency papilledema DOID:146 ICD10CM:H46.0 ICD10CM:H47.1 ICD10CM:H47.10 ICD9CM:377.0 ICD9CM:377.00 ICD9CM:377.31 MSH:D010211 NCI:C3307 SNOMEDCT_US_2015_03_01:111526001 SNOMEDCT_US_2015_03_01:155187009 SNOMEDCT_US_2015_03_01:194038006 SNOMEDCT_US_2015_03_01:194041002 SNOMEDCT_US_2015_03_01:248487006 SNOMEDCT_US_2015_03_01:423341008 SNOMEDCT_US_2015_03_01:423488006 SNOMEDCT_US_2015_03_01:73221001 UMLS_CUI:C0030353 disease_ontology atheroembolism of kidney DOID:1460 disease_ontology cholesterol embolism A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. DOID:1461 ICD10CM:I75 ICD9CM:445 MSH:D017700 SNOMEDCT_US_2015_03_01:10690002 UMLS_CUI:C0149649 atheroembolism cholesterol crystal embolism disease_ontology purple toe syndrome trash foot warfarin blue toe syndrome A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. url:http://en.wikipedia.org/wiki/Cholesterol_embolism Salmonella septicemia DOID:1465 Salmonella septicemia (disorder) disease_ontology true SNOMEDCT_2005_07_31:49786009 Salmonella septicemia (disorder) prostatitis DOID:14654 ICD10CM:N41 ICD10CM:N41.9 ICD9CM:601 ICD9CM:601.9 MSH:D011472 NCI:C26866 SNOMEDCT_US_2015_03_01:155907007 SNOMEDCT_US_2015_03_01:155911001 SNOMEDCT_US_2015_03_01:197962006 SNOMEDCT_US_2015_03_01:197971002 SNOMEDCT_US_2015_03_01:266637008 SNOMEDCT_US_2015_03_01:9713002 UMLS_CUI:C0033581 disease_ontology Salmonella infectious disease DOID:1466 DOID:9469 disease_ontology localized Salmonella infectious disease true acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. DOID:14669 MSH:C538179 OMIM mapping confirmed by DO. [SN]. OMIM:101800 OMIM:614613 SNOMEDCT_US_2015_03_01:66758006 UMLS_CUI:C0220659 disease_ontology A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. url:http://children.webmd.com/acrodysostosis url:http://en.wikipedia.org/wiki/Acrodysostosis url:http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm url:http://www.umm.edu/ency/article/001248.htm serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. DOID:1467 ICD9CM:386.31 SNOMEDCT_US_2015_03_01:41674001 UMLS_CUI:C0155504 acute serous labyrinthitis disease_ontology serous labyrinthitis (disorder) SNOMEDCT_2005_07_31:41674001 serous labyrinthitis (disorder) A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. url:http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false hypertelorism, microtia, facial clefting syndrome An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. Bixler Christian Gorlin syndrome Bixler syndrome Bixler-Christian-Gorlin syndrome DOID:14670 HMC syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism-microtia-facial clefting syndrome MSH:C537632 OMIM mapping confirmed by DO. [SN]. OMIM:239800 UMLS_CUI:C0220742 disease_ontology An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. url:http://ovidsp.tx.ovid.com/sp-3.11.0a/ovidweb.cgi?QS2=434f4e1a73d37e8c3b61fcc465cfeaf2a2013829b68d4ecac328a15066a4e94f4fb1f4acbd8cc7c65811b91a8feef027953893ddb6bfcb1631f0060f898c44ae88de08c6c0fe6de4b5dba7b84217009a26ab94c9f71bea6aee20d60f25222be27b7d6b1390e46803afc650533d8f13f8b71635cbcd0e3cef555939236d918d7334debc9cda1b2bba9890b137c5668d7c37aba08c1985f3b99e219ad3509efcccf39f692ddf2fb5bc2f3ff8a7c86a7290ba4b4aa893a5b6237af4c8242133de5fa146b6239aa90a45d111d31c53be4e17bf20e37ae83aa6b6c8044b9b3611b9e2b85f44e8037ff774b3255d20ed14b0661ffe5f72bc206ee6b3c0116bca48f8be3a48b1d1a93ae0095fff75ad0ef3804470c0f854c8f6f3b7c455b149e81a878a34b1dbb6c5ee342a82edad1b81aa89f4d528a8e66ba8f3707d0f00ad6c3a0debce6abf36d722320ca749875cceb40b1669b8219c3fa0a9551d2bdab98278d66676834719eb173f8dfc2b1b595be161bd4b8b4f1272f478537ff75ea68e4964c6a68ae33d3a194d94d2243ee51876f6e556503aa527e15d18 url:http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_omim&from_uid=11152141 url:http://www.ncbi.nlm.nih.gov/pubmed/11152141 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 multiple intestinal atresia DOID:14671 MSH:C562441 Multiple gastrointestinal atresias (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:243150 SNOMEDCT_US_2015_03_01:95472001 UMLS_CUI:C0220744 disease_ontology Multiple gastrointestinal atresias (disorder) SNOMEDCT_2005_07_31:95472001 congenital contricting bands DOID:14676 OMIM mapping confirmed by DO. [SN]. disease_ontology true VACTERL association A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. DOID:14679 ICD10CM:Q87.2 MSH:C536534 OMIM mapping confirmed by DO. [LS]. OMIM:192350 OMIM:276950 SNOMEDCT_US_2015_03_01:205830006 SNOMEDCT_US_2015_03_01:27742002 UMLS_CUI:C0220708 VACTERL/VATER association VATER syndrome disease_ontology vater ASSOCIATION vater association (disorder) vater association [dup] (disorder) SNOMEDCT_2005_07_31:205830006 vater association [dup] (disorder) A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. url:http://en.wikipedia.org/wiki/VACTERL_association url:http://ghr.nlm.nih.gov/condition/vacterl-association url:http://omim.org/entry/192350 url:http://www.cincinnatichildrens.org/health/v/vacterl/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=887 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/486/viewAbstract SNOMEDCT_2005_07_31:27742002 vater association (disorder) labyrinthitis A inner ear infectious disease which involves inflammation of the labyrinths. DOID:1468 ICD10CM:H83.0 ICD10CM:H83.09 ICD9CM:386.3 ICD9CM:386.30 Labyrinthitis (disorder) Labyrinthitis NOS (disorder) Labyrinthitis, unspecified MSH:D007762 SNOMEDCT_US_2015_03_01:155239008 SNOMEDCT_US_2015_03_01:194363004 SNOMEDCT_US_2015_03_01:194367003 SNOMEDCT_US_2015_03_01:23919004 UMLS_CUI:C0022893 Unspecified labyrinthitis (disorder) disease_ontology Labyrinthitis (disorder) SNOMEDCT_2005_07_31:23919004 Labyrinthitis NOS (disorder) SNOMEDCT_2005_07_31:194367003 SNOMEDCT_2005_07_31:194363004 Unspecified labyrinthitis (disorder) A inner ear infectious disease which involves inflammation of the labyrinths. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS ICD9CM_2006:386.30 Labyrinthitis, unspecified hereditary inflammatory vasculitis DOID:14680 VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES disease_ontology true Silver-Russell syndrome DOID:14681 ICD10CM:Q87.1 MSH:D056730 NCI:C85068 OMIM mapping confirmed by DO. [LS]. OMIM:180860 SNOMEDCT_US_2015_03_01:15069006 Silver Russell Dwarfism UMLS_CUI:C0175693 disease_ontology Binder syndrome DOID:14683 MSH:C536036 OMIM mapping confirmed by DO. [SN]. OMIM:155050 UMLS_CUI:C0220692 binder type maxillonasal dysplasia disease_ontology Axenfeld-Rieger syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. Anomaly, Rieger's Axenfeld syndrome DOID:14686 Hagedoom syndrome ICD10CM:Q13.81 OMIM:180500 OMIM:601499 OMIM:602482 ORDO:782 RGS - Rieger syndrome Rieger's anomaly SNOMEDCT_US_2015_03_01:47507006 SNOMEDCT_US_2015_03_01:86628002 UMLS_CUI:C0265341 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. url:http://en.wikipedia.org/wiki/Axenfeld_syndrome url:http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome Rieger's anomaly SNOMEDCT_2005_07_31:86628002 Anomaly, Rieger's MTHICD9_2006:743.44 RGS - Rieger syndrome SNOMEDCT_2005_07_31:204154009 diastrophic dysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. DOID:14687 ICD10CM:Q77.5 MSH:C536170 OMIM mapping confirmed by DO. [SN]. OMIM:222600 SNOMEDCT_US_2015_03_01:58561002 UMLS_CUI:C0220726 disease_ontology An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. url:http://emedicine.medscape.com/article/1257787-overview url:http://en.wikipedia.org/wiki/Diastrophic_dysplasia url:http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK22219/ single major depressive episode in full remission DOID:1469 Major depressive disorder, single episode in full remission Single major depressive episode, in full remission (disorder) disease_ontology true SNOMEDCT_2005_07_31:191606003 Single major depressive episode, in full remission (disorder) ICD9CM_2006:296.26 Major depressive disorder, single episode in full remission Smith-Lemli-Opitz syndrome DOID:14692 DOID:4366 ICD10CM:E78.72 MSH:D019082 NCI:C85071 OMIM mapping confirmed by DO. [LS]. OMIM:270400 Rutledge lethal multiple congenital anomaly syndrome SNOMEDCT_US_2015_03_01:43929004 Smith-Opitz-Inborn syndrome UMLS_CUI:C0175694 disease_ontology CSP2005:5002-0023 Smith-Opitz-Inborn syndrome Clouston syndrome Clouston's hidrotic ectodermal dysplasia Clouston's syndrome DOID:14693 Hidrotic ectodermal dysplasia syndrome (disorder) MSH:D004476 OMIM mapping confirmed by DO. [SN]. OMIM:129500 SNOMEDCT_US_2015_03_01:54209007 UMLS_CUI:C0162361 disease_ontology hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia syndrome (disorder) SNOMEDCT_2005_07_31:54209007 CSP2005:1254-7727 Clouston's syndrome Johanson-Blizzard syndrome An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. DOID:14694 Johanson-Blizzard syndrome (disorder) MSH:C535880 OMIM mapping confirmed by DO. [SN]. OMIM:243800 SNOMEDCT_US_2015_03_01:75979009 UMLS_CUI:C0175692 disease_ontology An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. url:http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome Johanson-Blizzard syndrome (disorder) SNOMEDCT_2005_07_31:75979009 galactokinase deficiency A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. DOID:14695 Galactosemia II ICD10CM:E74.29 MSH:D005693 OMIM mapping confirmed by DO. [SN]. OMIM:230200 SNOMEDCT_US_2015_03_01:124302001 SNOMEDCT_US_2015_03_01:18612007 UMLS_CUI:C0268155 disease_ontology A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. url:http://en.wikipedia.org/wiki/Galactokinase_deficiency Galactosemia II SNOMEDCT_2005_07_31:18612007 thrombocytopenia-absent radius syndrome DOID:14699 ICD10CM:Q87.2 MSH:C536940 NCI:C99038 OMIM mapping confirmed by DO. [LS]. OMIM:274000 Radial aplasia-thrombocytopenia syndrome (disorder) SNOMEDCT_US_2015_03_01:85589009 Thrombocytopenia with absent radii (TAR) syndrome UMLS_CUI:C0175703 chromosome 1q21.1 deletion syndrome disease_ontology MTHICD9_2006:287.33 Thrombocytopenia with absent radii (TAR) syndrome Radial aplasia-thrombocytopenia syndrome (disorder) SNOMEDCT_2005_07_31:85589009 major depressive disorder An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. DOID:10614 DOID:1470 DOID:2240 DOID:2241 DOID:7580 ICD10CM:F32 ICD10CM:F32.9 ICD10CM:F33 ICD10CM:F33.9 ICD9CM:296.2 ICD9CM:296.20 ICD9CM:296.3 ICD9CM:296.30 NCI:C34796 OMIM:608520 OMIM:608691 SNOMEDCT_US_2015_03_01:191599006 SNOMEDCT_US_2015_03_01:191600009 SNOMEDCT_US_2015_03_01:191607007 SNOMEDCT_US_2015_03_01:191608002 SNOMEDCT_US_2015_03_01:191609005 SNOMEDCT_US_2015_03_01:191617002 SNOMEDCT_US_2015_03_01:192366006 SNOMEDCT_US_2015_03_01:268620009 SNOMEDCT_US_2015_03_01:268621008 SNOMEDCT_US_2015_03_01:36923009 SNOMEDCT_US_2015_03_01:66344007 UMLS_CUI:C0024517 UMLS_CUI:C0154409 Xref MGI. disease_ontology recurrent major depression single major depressive episode An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. url:http://en.wikipedia.org/wiki/Major_depressive_disorder propionic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. DOID:14701 DOID:14706 GLYCINEMIA, KETOTIC ICD10CM:E71.121 KETOTIC HYPERGLYCINEMIA MSH:D056693 NCI:C85030 OMIM mapping confirmed by DO. [SN]. OMIM:606054 SNOMEDCT_US_2015_03_01:124718009 SNOMEDCT_US_2015_03_01:18979005 SNOMEDCT_US_2015_03_01:237948001 SNOMEDCT_US_2015_03_01:360364008 SNOMEDCT_US_2015_03_01:367417005 SNOMEDCT_US_2015_03_01:69080001 UMLS_CUI:C0268579 UMLS_CUI:C2717876 disease_ontology ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. url:http://en.wikipedia.org/wiki/Propionic_acidemia branchiootorenal syndrome Branchio-Oto-renal syndrome Branchio-otorenal dysplasia DOID:14702 MSH:D019280 Melnick-Fraser syndrome (disorder) NCI:C98983 OMIM mapping confirmed by DO. [SN]. OMIM:113650 OMIM:610896 SNOMEDCT_US_2015_03_01:205806009 SNOMEDCT_US_2015_03_01:290006 UMLS_CUI:C0265234 branchiootorenal dysplasia disease_ontology Branchio-Oto-renal syndrome MTH:NOCODE Branchio-otorenal dysplasia SNOMEDCT_2005_07_31:205806009 Melnick-Fraser syndrome (disorder) SNOMEDCT_2005_07_31:290006 Pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. DOID:14705 MSH:D000168 NCI:C99100 OMIM mapping confirmed by DO. [SN]. OMIM:101600 SNOMEDCT_US_2015_03_01:70410008 UMLS_CUI:C0220658 acrocephalosyndactylia type V disease_ontology An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Pfeiffer_syndrome url:http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome url:http://www.faces-cranio.org/Disord/Pfeiffer.htm url:http://www.healthline.com/galecontent/pfeiffer-syndrome FG syndrome An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. DOID:14711 Keller syndrome MSH:C537923 OMIM:300321 OMIM:300406 OMIM:300422 OMIM:300581 OMIM:305450 ORDO:323 ORDO:93932 Opitz-Kaveggia syndrome SNOMEDCT_US_2015_03_01:49984004 UMLS_CUI:C0220769 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. url:http://en.wikipedia.org/wiki/FG_syndrome url:http://ghr.nlm.nih.gov/condition/fg-syndrome url:http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1 centronuclear myopathy A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. DOID:14717 MSH:D020914 OMIM:160150 OMIM:255200 OMIM:310400 OMIM:614408 OMIM:614807 OMIM:615959 ORDO:595 ORDO:596 ORDO:69186 ORDO:69189 SNOMEDCT_US_2015_03_01:193223007 SNOMEDCT_US_2015_03_01:82077006 UMLS_CUI:C0175709 Xref MGI. disease_ontology myotubular myopathy MTHICD9_2006:359.0 myotubular myopathy A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. url:http://en.wikipedia.org/wiki/Centronuclear_myopathy url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy type I Ehlers-Danlos syndrome DOID:14720 Ehlers-Danlos syndrome, type 1 (disorder) MSH:C536194 OMIM mapping confirmed by DO. [LS]. OMIM:130000 SNOMEDCT_US_2015_03_01:83470009 UMLS_CUI:C0268335 disease_ontology Ehlers-Danlos syndrome, type 1 (disorder) SNOMEDCT_2005_07_31:83470009 beta-ketothiolase deficiency 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency DOID:14723 MSH:C535818 Mitochondrial acetoacetyl-CoA Thiolase deficiency OMIM mapping confirmed by DO. [SN]. OMIM:203750 SNOMEDCT_US_2015_03_01:238067002 UMLS_CUI:C1533628 alpha-methylacetoaceticaciduria disease_ontology peroxisomal thiolase deficiency (disorder) SNOMEDCT_2005_07_31:238067002 peroxisomal thiolase deficiency (disorder) autosomal dominant microcephaly DOID:14725 MSH:C537323 OMIM mapping confirmed by DO. [SN]. OMIM:156580 UMLS_CUI:C0220693 disease_ontology dominant cogenital severe sensorineural deafness DOID:14727 disease_ontology true Weaver syndrome DOID:14731 MSH:C562443 OMIM mapping confirmed by DO. [LS]. OMIM:277590 UMLS_CUI:C0220765 WEAVER-LIKE SYNDROME Weaver-Williams syndrome disease_ontology hereditary angioedema DOID:14735 HANE Hereditary angioedema Hereditary angioneurotic edema (disorder) MSH:D054179 NCI:C84758 OMIM mapping confirmed by DO. [SN]. OMIM:106100 OMIM:610618 SNOMEDCT_US_2015_03_01:82966003 UMLS_CUI:C0019243 disease_ontology Hereditary angioedema MTHICD9_2006:277.6 CSP2005:1849-1576 HANE Hereditary angioneurotic edema (disorder) SNOMEDCT_2005_07_31:82966003 craniofrontonasal syndrome DOID:14737 MSH:C536456 OMIM mapping confirmed by DO. [SN]. OMIM:304110 UMLS_CUI:C0220767 craniofrontonasal dysplasia disease_ontology progressive high-tone neural deafness DOID:14739 disease_ontology true aggressive periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. DOID:1474 ICD10CM:K05.2 MSH:D010520 OMIM mapping confirmed by DO. [SN]. OMIM:170650 OMIM:608526 SNOMEDCT_US_2015_03_01:2624008 SNOMEDCT_US_2015_03_01:449908004 SNOMEDCT_US_2015_03_01:49965002 UMLS_CUI:C0031106 disease_ontology juvenile periodontitis CSP2005:0828-4592 juvenile periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. url:http://en.wikipedia.org/wiki/Aggressive_periodontitis trichorhinophalangeal syndrome type I An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). DOID:0050552 DOID:14743 MERGED COMMENT: TARGET COMMENT: OMIM mapping confirmed by DO. [LS]. -------------------- SOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. MSH:C536820 NCI:C75109 OMIM:190350 OMIM:190351 SNOMEDCT_US_2015_03_01:239016009 SNOMEDCT_US_2015_03_01:254091006 Sugio-Kajii syndrome Trichorhinophalangeal dysplasia type I UMLS_CUI:C0432233 disease_ontology type I trichorhinophalangeal syndrome type III trichorhinophalangeal syndrome MTH:NOCODE Trichorhinophalangeal dysplasia type I An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). url:http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract Partington syndrome A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. DOID:14744 MSH:C562446 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. OMIM:309510 OMIM:312780 ORDO:94083 UMLS_CUI:C0220775 X-linked Russell-Silver syndrome disease_ontology A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. PMID:23622180 url:http://ghr.nlm.nih.gov/condition/partington-syndrome Sotos syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. DOID:14748 ICD10CM:Q87.3 MSH:D058495 NCI:C75019 OMIM:117550 OMIM:601451 OMIM:614753 ORDO:821 SNOMEDCT_US_2015_03_01:75968004 UMLS_CUI:C0175695 Xref MGI. cerebral gigantism disease_ontology An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. url:http://en.wikipedia.org/wiki/Cerebral_gigantism methylmalonic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood. DOID:14749 DOID:14782 DOID:14802 METHYLMALONIC ACIDEMIA, cblA TYPE METHYLMALONIC ACIDEMIA, cblB TYPE METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B OMIM mapping confirmed by DO. [SN]. OMIM:251100 OMIM:251110 disease_ontology methylmalonic aciduria methylmalonic aciduria cblB type methylmalonic aciduria mut type methylmalonic aciduria type cblA methylmalonic aciduria type cblB An organic acidemia that involves an accumulation of methylmalonic acid in the blood. url:http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002147/ lymphangioma Congenital lymphangioma DOID:1475 ICD10CM:D18.1 ICD9CM:228.1 MSH:D008202 NCI:C8965 SNOMEDCT_US_2015_03_01:154625006 SNOMEDCT_US_2015_03_01:189200000 SNOMEDCT_US_2015_03_01:189875000 SNOMEDCT_US_2015_03_01:253057002 SNOMEDCT_US_2015_03_01:254836000 SNOMEDCT_US_2015_03_01:269646001 SNOMEDCT_US_2015_03_01:400178008 SNOMEDCT_US_2015_03_01:69044001 SNOMEDCT_US_2015_03_01:93168006 UMLS_CUI:C0024221 benign lymphangioma (morphologic abnormality) disease_ontology Congenital lymphangioma SNOMEDCT_2005_07_31:189200000 SNOMEDCT_2005_07_31:253057002 benign lymphangioma (morphologic abnormality) isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. DOID:14753 ICD10CM:E71.110 Isovaleryl-CoA dehydrogenase deficiency (disorder) MSH:C538167 NCI:C98964 OMIM mapping confirmed by DO. [SN]. OMIM:243500 SNOMEDCT_US_2015_03_01:87827003 UMLS_CUI:C0268575 disease_ontology isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. url:http://en.wikipedia.org/wiki/Isovaleric_acidemia Isovaleryl-CoA dehydrogenase deficiency (disorder) SNOMEDCT_2005_07_31:87827003 argininosuccinic aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. Argininosuccinate lyase deficiency (disorder) DOID:14755 MSH:D056807 NCI:C84569 OMIM mapping confirmed by DO. [SN]. OMIM:207900 SNOMEDCT_US_2015_03_01:124630007 SNOMEDCT_US_2015_03_01:41013004 UMLS_CUI:C0268547 argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase (disorder) disease_ontology An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. url:http://en.wikipedia.org/wiki/Argininosuccinic_aciduria CSP2005:1849-9435 arginosuccinase deficiency Argininosuccinate lyase deficiency (disorder) SNOMEDCT_2005_07_31:41013004 SNOMEDCT_2005_07_31:124630007 deficiency of argininosuccinate lyase (disorder) autosomal dominant type IV Ehlers-Danlos syndrome DOID:14756 OMIM:130050 disease_ontology type III Ehlers-Danlos syndrome DOID:14757 Ehlers-Danlos syndrome, type 3 (disorder) MSH:C536196 OMIM mapping confirmed by DO. [LS]. OMIM:130020 SNOMEDCT_US_2015_03_01:30652003 UMLS_CUI:C0268337 disease_ontology Ehlers-Danlos syndrome, type 3 (disorder) SNOMEDCT_2005_07_31:30652003 autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 Ehlers-Danlos syndrome, recessive type 4 (disorder) SNOMEDCT_US_2015_03_01:70610001 UMLS_CUI:C0268340 disease_ontology Ehlers-Danlos syndrome, recessive type 4 (disorder) SNOMEDCT_2005_07_31:70610001 Greig cephalopolysyndactyly syndrome An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. DOID:14761 DOID:9251 MSH:C537300 NCI:C35255 OMIM mapping confirmed by DO. [SN]. OMIM:175700 SNOMEDCT_US_2015_03_01:32985001 UMLS_CUI:C0265306 disease_ontology polysyndactyly with peculiars skull shape An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. url:http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome url:http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. DOID:14762 Multiple synostosis syndrome (disorder) OMIM mapping confirmed by DO. [LS]. OMIM:186400 SNOMEDCT_US_2015_03_01:62628008 SYNOSTOSES, TARSAL, CARPAL AND DIGITAL UMLS_CUI:C0175700 disease_ontology A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome Multiple synostosis syndrome (disorder) SNOMEDCT_2005_07_31:62628008 Larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. DOID:14764 OMIM mapping confirmed by DO. [SN]. OMIM:150250 disease_ontology dominant larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. url:http://en.wikipedia.org/wiki/Larsen_syndrome renal agenesis DOID:14766 OMIM:191830 disease_ontology hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia Saethre-Chotzen syndrome An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. DOID:14768 MSH:D000168 NCI:C75034 OMIM mapping confirmed by DO. [SN]. OMIM:101400 SNOMEDCT_US_2015_03_01:390726000 SNOMEDCT_US_2015_03_01:390746005 SNOMEDCT_US_2015_03_01:83015004 UMLS_CUI:C0175699 acrocephalosyndactyly type III disease_ontology An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. url:http://children.webmd.com/saethre-chotzen-syndrome url:http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome url:http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome url:http://www.faces-cranio.org/Disord/Saethre.htm url:http://www.healthline.com/galecontent/saethre-chotzen-syndrome cartilage-hair hypoplasia DOID:14773 MSH:C535916 McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type NCI:C61245 OMIM mapping confirmed by DO. [SN]. OMIM:250250 SNOMEDCT_US_2015_03_01:234421004 SNOMEDCT_US_2015_03_01:7720002 UMLS_CUI:C0220748 disease_ontology Metaphyseal chondrodysplasia, McKusick type SNOMEDCT_2005_07_31:234421004 type VI Ehlers-Danlos syndrome DOID:14775 Kyphoscoliosis type MSH:C536198 OMIM mapping confirmed by DO. [LS]. OMIM:225400 OMIM:229200 SNOMEDCT_US_2015_03_01:25606004 UMLS_CUI:C0268342 brittle cornea syndrome disease_ontology Kyphoscoliosis type SNOMEDCT_2005_07_31:25606004 benign familial neonatal epilepsy DOID:14777 MSH:D020936 SNOMEDCT_US_2015_03_01:230410004 SNOMEDCT_US_2015_03_01:279953009 UMLS_CUI:C0220669 disease_ontology familial neonatal seizures (disorder) SNOMEDCT_2005_07_31:279953009 familial neonatal seizures (disorder) blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 MSH:C562419 OMIM mapping confirmed by DO. [SN]. OMIM:110100 SNOMEDCT_US_2015_03_01:79833006 UMLS_CUI:C0220663 disease_ontology KBG syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. DOID:14780 MSH:C537015 OMIM mapping confirmed by DO. [SN]. OMIM:148050 ORDO:2332 UMLS_CUI:C0220687 disease_ontology A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome olivopontocerebellar atrophy A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. DOID:12708 DOID:14784 Dejerine-Thomas syndrome ICD10:G23.8 MSH:D009849 NCI:C84947 OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2015_03_01:67761004 Thomas' syndrome UMLS_CUI:C0028968 WADIA-SWAMI SYNDROME disease_ontology A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. url:http://www.ninds.nih.gov/disorders/opca/opca.htm SNOMEDCT_2005_07_31:37250002 Thomas' syndrome Dejerine-Thomas syndrome MTHICD9_2006:333.0 Fryns syndrome DOID:14787 OMIM mapping confirmed by DO. [SN]. disease_ontology true spondyloepiphyseal dysplasia congenita DOID:14789 Late Spondyloepiphyseal Dysplasia OMIM mapping confirmed by DO. [SN]. OMIM:183900 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT disease_ontology Late Spondyloepiphyseal Dysplasia MTH:NOCODE Leber congenital amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. DOID:14791 LCA Leber congenital amaurosis type 13 Leber congenital amaurosis type 14 Leber's amaurosis (disorder) Leber's congenital amaurosis Leber's disease MSH:D057130 OMIM:204000 OMIM:204100 OMIM:604232 OMIM:604393 OMIM:604537 OMIM:608553 OMIM:610142 OMIM:610612 OMIM:611755 OMIM:612712 OMIM:613341 OMIM:613826 OMIM:613829 OMIM:613835 OMIM:613837 OMIM:614186 OMIM:615360 ORDO:65 SNOMEDCT_US_2015_03_01:193413001 UMLS_CUI:C0339527 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis CSP2005:5000-0048 Leber's disease Leber's amaurosis (disorder) SNOMEDCT_2005_07_31:193413001 CSP2005:1114-9698 Leber's congenital amaurosis hypohidrotic ectodermal dysplasia A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Christ-Siemens-Touraine Syndrome DOID:0050446 DOID:0050447 DOID:14793 Ectodermal Dysplasia 1, Anhydrotic Hypohidrotic X-linked ectodermal dysplasia (disorder) MSH:D053358 NCI:C84562 OMIM mapping confirmed by DO. [SN]. OMIM:129490 OMIM:224900 OMIM:300291 OMIM:305100 SNOMEDCT_US_2015_03_01:239007005 SNOMEDCT_US_2015_03_01:4826006 SNOMEDCT_US_2015_03_01:7731005 UMLS_CUI:C0162359 anhidrotic ectodermal dysplasia 3 disease_ontology Hypohidrotic X-linked ectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:239007005 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). url:http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1112/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 Dubowitz Syndrome A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. DOID:14796 Dubowitz's syndrome (disorder) ICD10CM:Q87.1 MEDDRA:10059589 MSH:C535718 OMIM mapping confirmed by DO. [SN]. OMIM:223370 SNOMEDCT_US_2015_03_01:2593002 UMLS_CUI:C0175691 disease_ontology A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. url:http://en.wikipedia.org/wiki/Dubowitz_syndrome Dubowitz's syndrome (disorder) SNOMEDCT_2005_07_31:2593002 Blount's disease An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. Blount disease DOID:14798 MSH:C536237 OMIM mapping confirmed by DO. [SN]. OMIM:188700 OMIM:259200 UMLS_CUI:C0220757 disease_ontology familial infantile type osteochondrosis deformans tibiae An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. url:http://en.wikipedia.org/wiki/Blount%27s_disease url:http://www.columbiaortho.org/children/blountsdisease.html url:http://www.e-radiography.net/radpath/b/blountsdisease.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm url:http://www.wheelessonline.com/ortho/blounts_disease gingival disease DOID:1483 Gingival disease Gingival disease (disorder) MSH:D005882 SNOMEDCT_US_2015_03_01:155642009 SNOMEDCT_US_2015_03_01:18718003 SNOMEDCT_US_2015_03_01:266489007 UMLS_CUI:C0017563 disease_ontology gingiva disorder CSP2005:0828-2406 gingiva disorder Gingival disease (disorder) SNOMEDCT_2005_07_31:18718003 Gingival disease SNOMEDCT_2005_07_31:266489007 Gingival disease SNOMEDCT_2005_07_31:155642009 cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. CF DOID:12447 DOID:13383 DOID:14395 DOID:1484 DOID:1485 EFOpat_id:49 ICD10CM:E84 ICD10CM:E84.9 ICD9CM:277.0 MSH:D003550 NCI:C2975 OMIM mapping confirmed by DO. [SN]. OMIM:219700 SNOMEDCT_US_2015_03_01:154767009 SNOMEDCT_US_2015_03_01:190905008 SNOMEDCT_US_2015_03_01:190911006 SNOMEDCT_US_2015_03_01:85809002 UMLS_CUI:C0010674 disease_ontology mucoviscidosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. url:http://en.wikipedia.org/wiki/Cystic_fibrosis url:http://ghr.nlm.nih.gov/condition/cystic-fibrosis url:http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ secondary syphilitic chorioretinitis DOID:1486 Syphilitic chorioretinitis (secondary) disease_ontology secondary syphilitic chorioretinitis (disorder) true ICD9CM_2006:091.51 Syphilitic chorioretinitis (secondary) SNOMEDCT_2005_07_31:66281009 secondary syphilitic chorioretinitis (disorder) secondary syphilitic uveitis DOID:1487 Syphilitic uveitis unspecified (disorder) Syphilitic uveitis, unspecified Uveitis due to secondary syphilis Uveitis due to secondary syphilis (disorder) disease_ontology secondary syphilitic uveitis (disorder) secondary syphilitic uveitis NOS (disorder) true ICD9CM_2006:091.50 Syphilitic uveitis, unspecified SNOMEDCT_2005_07_31:186854007 Uveitis due to secondary syphilis (disorder) SNOMEDCT_2005_07_31:70983007 secondary syphilitic uveitis (disorder) ICD9CM_2006:091.5 Uveitis due to secondary syphilis SNOMEDCT_2005_07_31:186857000 secondary syphilitic uveitis NOS (disorder) SNOMEDCT_2005_07_31:186855008 Syphilitic uveitis unspecified (disorder) corneal anesthesia and hypoesthesia DOID:1491 disease_ontology true eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. DOID:1492 ICD10CM:H35.00 ICD9CM:362.10 SNOMEDCT_US_2015_03_01:193355009 SNOMEDCT_US_2015_03_01:31411005 SNOMEDCT_US_2015_03_01:42873008 UMLS_CUI:C0004608 disease_ontology A sensory system disease that is located_in the eye or the adnexa of the eye. url:http://en.wikipedia.org/wiki/Category:Diseases_of_the_eye_and_adnexa cystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. DOID:13256 DOID:13708 DOID:14154 DOID:1493 DOID:1495 Echinococcus granulosus infection (disorder) Echinococcus granulosus infection of lung Echinococcus granulosus infection of lung (disorder) Echinococcus granulosus infection of thyroid (disorder) Echinococcus granulosus infection, unspecified Echinococcus granulosus infectious disease of liver (disorder) ICD10CM:B67.4 ICD9CM:122.4 Liver echinococcus granulosus (disorder) SNOMEDCT_US_2015_03_01:187138004 SNOMEDCT_US_2015_03_01:75006000 Thyroid echinococcus granulosus (disorder) UMLS_CUI:C0152068 Unspecified echinococcus granulosus (disorder) disease_ontology echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus lung echinococcus granulosus (disorder) unilocular echinococcosis unilocular hydatid disease An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm Echinococcus granulosus infection, unspecified ICD9CM_2006:122.4 Liver echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187133008 Echinococcus granulosus infection (disorder) SNOMEDCT_2005_07_31:75006000 SNOMEDCT_2005_07_31:187138004 Unspecified echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187135001 Thyroid echinococcus granulosus (disorder) Echinococcus granulosus infection of thyroid (disorder) SNOMEDCT_2005_07_31:65963007 SNOMEDCT_2005_07_31:187134002 lung echinococcus granulosus (disorder) Echinococcus granulosus infectious disease of liver (disorder) SNOMEDCT_2005_07_31:20790006 Echinococcus granulosus infection of lung (disorder) SNOMEDCT_2005_07_31:75388006 Echinococcus granulosus infection of lung ICD9CM_2006:122.1 echinococcosis A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. DOID:12149 DOID:1496 DOID:2783 Echinococcosis of liver (disorder) Echinococcosis, unspecified, of liver Echinococcosis, unspecified, of liver (disorder) ICD10CM:B67 ICD10CM:B67.90 ICD9CM:122 Liver echinococcus unspecified (disorder) MSH:D004443 NCI:C84682 SNOMEDCT_US_2015_03_01:154414008 SNOMEDCT_US_2015_03_01:187143006 SNOMEDCT_US_2015_03_01:74942003 UMLS_CUI:C0013502 disease_ontology echinococcal disease hepatic echinococcosis hydatid disease hydatidosis pulmonary echinococcosis Echinococcosis, unspecified, of liver ICD9CM_2006:122.8 Echinococcosis, unspecified, of liver (disorder) SNOMEDCT_2005_07_31:187523006 CSP2005:1754-8052 hepatic echinococcosis Echinococcosis of liver (disorder) SNOMEDCT_2005_07_31:26103000 A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. url:http://emedicine.medscape.com/article/178648-overview url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis Liver echinococcus unspecified (disorder) SNOMEDCT_2005_07_31:187142001 cholera (Cholera) or (Vibrio cholerae) A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. Cholera - Vibrio cholerae (disorder) Cholera due to Vibrio cholerae DOID:1498 ICD10CM:A00 ICD10CM:A00.0 ICD10CM:A00.9 ICD9CM:001 ICD9CM:001.0 ICD9CM:001.9 MSH:D002771 SNOMEDCT_US_2015_03_01:154269008 SNOMEDCT_US_2015_03_01:186087007 SNOMEDCT_US_2015_03_01:186088002 SNOMEDCT_US_2015_03_01:186089005 SNOMEDCT_US_2015_03_01:187267007 SNOMEDCT_US_2015_03_01:61972007 SNOMEDCT_US_2015_03_01:63650001 UMLS_CUI:C0008354 disease_ontology Cholera - Vibrio cholerae (disorder) SNOMEDCT_2005_07_31:186088002 Cholera due to Vibrio cholerae ICD9CM_2006:001.0 A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html (Cholera) or (Vibrio cholerae) SNOMEDCT_2005_07_31:186087007 Vibrio infectious disease DOID:1499 Infection due to non-cholerae vibrio disease_ontology true vibriosis CSP2005:0368-4082 vibriosis Infection due to non-cholerae vibrio SNOMEDCT_2005_07_31:398557001 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs. DOID:15 DOID:6309 NCI:C27613 Non-neoplastic Reproductive system disease UMLS_CUI:C1335037 disease_ontology genital system disease A disease of anatomical entity that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. DOID:150 ICD10CM:F99 ICD10CM:F99-F99 MSH:D001523 NCI:C2893 SNOMEDCT_US_2015_03_01:154843007 SNOMEDCT_US_2015_03_01:154971002 SNOMEDCT_US_2015_03_01:154972009 SNOMEDCT_US_2015_03_01:154980002 SNOMEDCT_US_2015_03_01:192637001 SNOMEDCT_US_2015_03_01:192639003 SNOMEDCT_US_2015_03_01:74732009 UMLS_CUI:C0004936 disease_ontology A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Mental_disorder candidiasis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. DOID:1507 DOID:1508 Disseminated candidiasis ICD10CM:B37 ICD10CM:B37.9 ICD9CM:112 ICD9CM:112.9 MSH:D002177 NCI:C26711 SNOMEDCT_US_2015_03_01:154403005 SNOMEDCT_US_2015_03_01:187005005 SNOMEDCT_US_2015_03_01:187024008 SNOMEDCT_US_2015_03_01:187478002 SNOMEDCT_US_2015_03_01:78048006 UMLS_CUI:C0006840 disease_ontology systemic candidiasis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. url:http://en.wikipedia.org/wiki/Candidiasis url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Disseminated candidiasis ICD9CM_2006:112.5 avoidant personality disorder A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. DOID:1509 ICD10CM:F60.6 ICD9CM:301.82 MSH:D010554 NCI:C92636 SNOMEDCT_US_2015_03_01:191771004 SNOMEDCT_US_2015_03_01:37746008 UMLS_CUI:C0004444 anxious personality disorder disease_ontology A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder personality disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. DOID:1510 ICD9CM:301.8 ICD9CM:301.89 SNOMEDCT_US_2015_03_01:191770003 SNOMEDCT_US_2015_03_01:191776009 SNOMEDCT_US_2015_03_01:268635005 SNOMEDCT_US_2015_03_01:268759009 UMLS_CUI:C0029707 character disorder disease_ontology A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. url:http://www.nlm.nih.gov/medlineplus/personalitydisorders.html residual schizophrenia chronic state with acute exacerbation DOID:1511 disease_ontology true chronic gonorrhea of cervix DOID:1512 Gonococcal cervicitis, chronic ICD9CM:098.35 SNOMEDCT_US_2015_03_01:76802005 UMLS_CUI:C0153206 chronic gonococcal cervicitis (disorder) disease_ontology SNOMEDCT_2005_07_31:76802005 chronic gonococcal cervicitis (disorder) Gonococcal cervicitis, chronic ICD9CM_2006:098.35 chronic cervicitis DOID:1513 NCI:C27057 SNOMEDCT_US_2015_03_01:198210003 SNOMEDCT_US_2015_03_01:56728002 UMLS_CUI:C0269062 disease_ontology mitral valve syphilitic endocarditis DOID:1515 Syphilitic endocarditis of mitral valve (disorder) disease_ontology true SNOMEDCT_2005_07_31:186875004 Syphilitic endocarditis of mitral valve (disorder) syphilitic endocarditis DOID:1516 Syphilitic endocarditis (disorder) disease_ontology true SNOMEDCT_2005_07_31:67391006 Syphilitic endocarditis (disorder) cecal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. DOID:1517 MSH:D002430 NCI:C4433 SNOMEDCT_US_2015_03_01:126839008 UMLS_CUI:C0007528 cecum neoplasm disease_ontology neoplasm of caecum SNOMEDCT_2005_07_31:126839008 neoplasm of caecum NCI2004_11_17:C4433 cecum neoplasm An intestinal benign neoplasm that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum cecal disease An intestinal disease located_in the cecum. DOID:1518 MSH:D002429 SNOMEDCT_US_2015_03_01:128525008 UMLS_CUI:C0007527 disease_ontology disorder of cecum (disorder) An intestinal disease located_in the cecum. url:https://en.wikipedia.org/wiki/Cecum SNOMEDCT_2005_07_31:128525008 disorder of cecum (disorder) cecum carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. Caecum carcinoma Cecal cancer DOID:1519 NCI:C3491 SNOMEDCT_US_2015_03_01:154459000 SNOMEDCT_US_2015_03_01:187756005 SNOMEDCT_US_2015_03_01:255081007 SNOMEDCT_US_2015_03_01:269538009 UMLS_CUI:C0149640 carcinoma of cecum disease_ontology SNOMEDCT_2005_07_31:187756005 carcinoma of cecum Caecum carcinoma SNOMEDCT_2005_07_31:269538009 Cecal cancer NCI2004_11_17:C3491 A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma colon carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. Colonic carcinoma DOID:1520 NCI:C4910 OMIM mapping confirmed by DO. [SN]. OMIM:114500 SNOMEDCT_US_2015_03_01:154454005 SNOMEDCT_US_2015_03_01:269533000 UMLS_CUI:C0699790 carcinoma OF colon carcinoma of colon carcinoma of colon (disorder) disease_ontology MTH:191 carcinoma OF colon SNOMEDCT_2005_07_31:269533000 carcinoma of colon (disorder) A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma SNOMEDCT_2005_07_31:154454005 carcinoma of colon Colonic carcinoma NCI2004_11_17:C4910 cecum cancer A large intestine cancer that is located_in the cecum. DOID:1521 ICD10CM:C18.0 ICD9CM:153.4 MSH:D002430 NCI:C9329 SNOMEDCT_US_2015_03_01:154459000 SNOMEDCT_US_2015_03_01:187756005 SNOMEDCT_US_2015_03_01:269538009 SNOMEDCT_US_2015_03_01:363350007 SNOMEDCT_US_2015_03_01:93736007 UMLS_CUI:C0153437 disease_ontology malignant neoplasm of caecum malignant tumor of the cecum NCI2004_11_17:C9329 malignant tumor of the cecum SNOMEDCT_2005_07_31:93736007 malignant neoplasm of caecum A large intestine cancer that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum cecum lymphoma Cecal Lymphoma DOID:1522 NCI:C5515 UMLS_CUI:C1332867 disease_ontology Cecal Lymphoma NCI2004_11_17:C5515 colon lymphoma Colonic Lymphoma DOID:1523 NCI:C4793 UMLS_CUI:C0519037 disease_ontology Colonic Lymphoma NCI2004_11_17:C4793 nodular nonsuppurative panniculitis DOID:1525 ICD10CM:M35.6 MSH:D010201 Relapsing febrile nodular nonsuppurative panniculitis (disorder) SNOMEDCT_US_2015_03_01:203120002 SNOMEDCT_US_2015_03_01:203121003 SNOMEDCT_US_2015_03_01:33760009 UMLS_CUI:C0030328 Weber - Christian disease Weber-Christian disease disease_ontology nodular non-suppurative febrile panniculitis Relapsing febrile nodular nonsuppurative panniculitis (disorder) SNOMEDCT_2005_07_31:33760009 MTHICD9_2006:729.30 Weber-Christian disease SNOMEDCT_2005_07_31:203121003 nodular non-suppurative febrile panniculitis SNOMEDCT_2005_07_31:203120002 Weber - Christian disease panniculitis DOID:1526 ICD10CM:M79.3 ICD9CM:729.3 ICD9CM:729.30 MSH:D015434 NCI:C112112 SNOMEDCT_US_2015_03_01:156779007 SNOMEDCT_US_2015_03_01:203119008 SNOMEDCT_US_2015_03_01:203120002 SNOMEDCT_US_2015_03_01:203122005 SNOMEDCT_US_2015_03_01:22125009 SNOMEDCT_US_2015_03_01:268012006 SNOMEDCT_US_2015_03_01:268122002 UMLS_CUI:C0030326 disease_ontology penile non-neoplastic disease DOID:1528 disease_ontology true penile disease DOID:1529 ICD10CM:N48.8 ICD10CM:N48.89 ICD9CM:607.8 ICD9CM:607.89 SNOMEDCT_US_2015_03_01:198558008 UMLS_CUI:C0029785 disease_ontology fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. DOID:153 Fibroepithelial neoplasm (morphologic abnormality) Fibroepithelial neoplasm NOS (morphologic abnormality) Fibroepithelial tumor Fibroepithelial tumor (qualifier value) disease_ontology true Fibroepithelial neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189828000 Fibroepithelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115230008 Fibroepithelial tumor (qualifier value) SNOMEDCT_2005_07_31:134330009 Fibroepithelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189817004 Fibroepithelial tumor NCI2004_11_17:C3743 A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. url:http://en.wikipedia.org/wiki/Fibroepithelial_neoplasm male non-neoplastic reproductive system disease DOID:1530 disease_ontology true pleural disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. DOID:1531 DOID:1532 MSH:D010995 NCI:C26859 Pleural disorder SNOMEDCT_US_2015_03_01:88075009 UMLS_CUI:C0032226 disease_ontology disorder of pleura non-neoplastic pleural disease NCI2004_11_17:C26859 Pleural disorder A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. url:http://chestjournal.chestpubs.org/content/104/1/262.full.pdf+html url:http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000112220 url:http://en.wikipedia.org/wiki/Pleural_disease SNOMEDCT_2005_07_31:88075009 disorder of pleura mixed cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue. DOID:154 DOID:1905 MSH:D018198 NCI:C3729 NCI:C6930 SNOMEDCT_US_2015_03_01:189802003 SNOMEDCT_US_2015_03_01:8145008 UMLS_CUI:C0206625 UMLS_CUI:C1368354 disease_ontology malignant mixed cancer malignant mixed neoplasm malignant mixed tumor mixed neoplasm mixed tumor mixed tumor, malignant (morphologic abnormality) mixed tumor, malignant, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:8145008 mixed tumor, malignant (morphologic abnormality) NCI2004_11_17:C3729 malignant mixed neoplasm SNOMEDCT_2005_07_31:189802003 mixed tumor, malignant, NOS (morphologic abnormality) A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue. url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm NCI2004_11_17:C6930 mixed tumor parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. DOID:11006 DOID:1540 DOID:1541 ICD10CM:C75.0 ICD9CM:194.1 MSH:D010282 NCI:C3313 NCI:C4906 NCI:C9322 OMIM mapping confirmed by DO. [SN]. OMIM:608266 Parathyroid gland neoplasm SNOMEDCT_US_2015_03_01:127020005 SNOMEDCT_US_2015_03_01:255037004 SNOMEDCT_US_2015_03_01:363481002 SNOMEDCT_US_2015_03_01:93943008 UMLS_CUI:C0030521 UMLS_CUI:C0153653 UMLS_CUI:C0687150 carcinoma of Parathyroid gland disease_ontology malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland (disorder) neoplasm of parathyroid gland parathyroid gland adenocarcinoma parathyroid gland cancer parathyroid neoplasm NCI2004_11_17:C4906 carcinoma of Parathyroid gland NCI2004_11_17:C9322 malignant neoplasm of the Parathyroid SNOMEDCT_2005_07_31:127020005 neoplasm of parathyroid gland An endocrine gland cancer located_in the parathyroid glands located in the neck. url:http://en.wikipedia.org/wiki/Parathyroid_gland ICD9CM_2006:194.1 SNOMEDCT_2005_07_31:93943008 malignant neoplasm of parathyroid gland CSP2005:2009-6398 parathyroid neoplasm SNOMEDCT_2005_07_31:363481002 malignant tumor of parathyroid gland (disorder) NCI2004_11_17:C3313 Parathyroid gland neoplasm head and neck carcinoma A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. DOID:1542 NCI:C6077 UMLS_CUI:C1334927 carcinoma of neck carcinoma of the neck disease_ontology A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck NCI2004_11_17:C6077 carcinoma of the neck metastatic neoplasm of parathyroid DOID:1543 disease_ontology metastatic tumor of Parathyroid true NCI2004_11_17:C7827 metastatic tumor of Parathyroid glandular and epithelial neoplasm DOID:155 disease_ontology true gestational diabetes complicating pregnancy, childbirth, or the puerperium DOID:1549 DOID:1550 Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder) Diabetes mellitus, postpartum disease_ontology true Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder) SNOMEDCT_2005_07_31:199228009 vibratory urticaria DOID:1554 ICD10CM:L50.4 ICD9CM:708.4 SNOMEDCT_US_2015_03_01:51247001 UMLS_CUI:C0157743 disease_ontology urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. DOID:1555 ICD9CM:708.8 SNOMEDCT_US_2015_03_01:201267004 SNOMEDCT_US_2015_03_01:201271001 SNOMEDCT_US_2015_03_01:267817001 UMLS_CUI:C0029839 disease_ontology A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. url:http://en.wikipedia.org/wiki/Urticaria arthus reaction Arthus Phenomenon Arthus phenomenon Arthus reaction (function) Arthus type urticaria DOID:1556 ICD10CM:T78.41 ICD9CM:995.21 MSH:D001183 NCI:C34400 SNOMEDCT_US_2015_03_01:29548007 SNOMEDCT_US_2015_03_01:402413008 UMLS_CUI:C0003907 disease_ontology Arthus reaction (function) SNOMEDCT_2005_07_31:29548007 Arthus type urticaria SNOMEDCT_2005_07_31:402413008 Arthus Phenomenon NCI2004_11_17:C34400 Arthus phenomenon CSP2005:1524-9024 hypersensitivity reaction type III disease DOID:1557 MSH:D007105 NCI:C114346 UMLS_CUI:C0020951 disease_ontology immune complex disease CSP2005:1560-5864 immune complex disease angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues. Angioneurotic oedema CSP:2716-7007 DOID:1558 ICD10CM:T78.3 MSH:D000799 NCI:C112175 Quincke's edema SNOMEDCT_US_2015_03_01:157756002 SNOMEDCT_US_2015_03_01:269433002 SNOMEDCT_US_2015_03_01:400075008 SNOMEDCT_US_2015_03_01:41291007 SNOMEDCT_US_2015_03_01:82966003 UMLS_CUI:C0002994 angioneurotic edema disease_ontology giant urticaria Angioneurotic oedema SNOMEDCT_2005_07_31:269433002 CSP2005:1849-1576 giant urticaria Quincke's edema SNOMEDCT_2005_07_31:82966003 A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues. url:http://en.wikipedia.org/wiki/Angioedema cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. DOID:1561 ICD10CM:F09 MSH:D019965 NCI:C34870 Organic Mental disorder SNOMEDCT_US_2015_03_01:106014008 SNOMEDCT_US_2015_03_01:111479008 UMLS_CUI:C0029227 cognitive disease disease_ontology A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. url:http://en.wikipedia.org/wiki/Cognitive_disorder NCI2004_11_17:C34870 Organic Mental disorder chromoblastomycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. Chromomycosis DOID:1562 ICD10CM:B43.9 ICD9CM:117.2 MSH:D002862 Mossy foot disease (disorder) SNOMEDCT_US_2015_03_01:187079000 SNOMEDCT_US_2015_03_01:187082005 SNOMEDCT_US_2015_03_01:187490000 SNOMEDCT_US_2015_03_01:238441002 SNOMEDCT_US_2015_03_01:7255004 UMLS_CUI:C0008582 disease_ontology Chromomycosis MTHICD9_2006:117.2 A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005 Mossy foot disease (disorder) SNOMEDCT_2005_07_31:252402000 dermatomycosis A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. DOID:1563 ICD9CM:111 ICD9CM:111.9 MSH:D003881 SNOMEDCT_US_2015_03_01:14560005 SNOMEDCT_US_2015_03_01:186984003 SNOMEDCT_US_2015_03_01:187004009 SNOMEDCT_US_2015_03_01:47382004 UMLS_CUI:C0011630 disease_ontology A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004 fungal infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. DOID:1564 ICD10CM:B35-B49 ICD10CM:B49 ICD9CM:110-118.99 MSH:D009181 NCI:C3245 SNOMEDCT_US_2015_03_01:154393000 SNOMEDCT_US_2015_03_01:154394006 SNOMEDCT_US_2015_03_01:187110007 SNOMEDCT_US_2015_03_01:187472001 SNOMEDCT_US_2015_03_01:187498007 SNOMEDCT_US_2015_03_01:266214005 SNOMEDCT_US_2015_03_01:3218000 UMLS_CUI:C0026946 disease_ontology mycoses mycosis A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. url:http://en.wikipedia.org/wiki/Mycoses calculus of gallbladder and bile duct with acute and chronic cholecystitis DOID:1567 DOID:1568 calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction disease_ontology true mechanical ectropion DOID:1569 ICD9CM:374.12 Mechanical ectropion (disorder) SNOMEDCT_US_2015_03_01:45020000 UMLS_CUI:C0155194 disease_ontology Mechanical ectropion (disorder) SNOMEDCT_2005_07_31:45020000 epithelial carcinoma A carcinoma that derives_from the cells that line an organ. DOID:157 DOID:3806 disease_ontology epithelial neoplasm epithelial skin tumor epithelial tumor (qualifier value) skin Epithelium tumor true tumor of surface epithelium (disorder) SNOMEDCT_2005_07_31:134207000 epithelial tumor (qualifier value) NCI2004_11_17:C7342 skin Epithelium tumor SNOMEDCT_2005_07_31:254649008 tumor of surface epithelium (disorder) A carcinoma that derives_from the cells that line an organ. url:http://www.cancer.gov/dictionary/?CdrID=46422 ectropion DOID:1570 Ectropion of eyelid (disorder) Everted margin (morphologic abnormality) ICD10CM:H02.1 ICD10CM:H02.10 ICD10CM:H02.109 ICD9CM:374.1 ICD9CM:374.10 MSH:D004483 SNOMEDCT_US_2015_03_01:127559009 SNOMEDCT_US_2015_03_01:155178000 SNOMEDCT_US_2015_03_01:193934003 SNOMEDCT_US_2015_03_01:193935002 SNOMEDCT_US_2015_03_01:62909004 UMLS_CUI:C0013592 disease_ontology Ectropion of eyelid (disorder) SNOMEDCT_2005_07_31:62909004 Everted margin (morphologic abnormality) SNOMEDCT_2005_07_31:127559009 spastic ectropion DOID:1571 ICD9CM:374.13 SNOMEDCT_US_2015_03_01:80846000 Spastic ectropion (disorder) UMLS_CUI:C0155195 disease_ontology SNOMEDCT_2005_07_31:80846000 Spastic ectropion (disorder) normal pressure hydrocephalus DOID:1572 ICD10CM:G91.2 Low pressure hydrocephalus MSH:D006850 Normal pressure hydrocephalus (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:236690 SNOMEDCT_US_2015_03_01:30753002 SNOMEDCT_US_2015_03_01:69663004 UMLS_CUI:C0020258 disease_ontology Normal pressure hydrocephalus (disorder) SNOMEDCT_2005_07_31:30753002 Low pressure hydrocephalus SNOMEDCT_2005_07_31:69663004 communicating hydrocephalus Communicating hydrocephalus Communicating hydrocephalus (disorder) Communicating hydrocephalus (disorder) [Ambiguous] DOID:1573 ICD10CM:G91.0 ICD9CM:331.3 MSH:D006849 NCI:C34501 SNOMEDCT_US_2015_03_01:271569006 SNOMEDCT_US_2015_03_01:59013007 UMLS_CUI:C0009451 disease_ontology Communicating hydrocephalus ICD9CM_2006:331.3 Communicating hydrocephalus (disorder) SNOMEDCT_2005_07_31:271569006 Communicating hydrocephalus (disorder) [Ambiguous] SNOMEDCT_2005_07_31:59013007 alcohol abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. DOID:1574 Ethanol abuse ICD10CM:F10.1 ICD9CM:305.0 ICD9CM:305.00 MSH:D000437 NCI:C20701 SNOMEDCT_US_2015_03_01:15167005 SNOMEDCT_US_2015_03_01:304606004 UMLS_CUI:C0085762 disease_ontology Ethanol abuse SNOMEDCT_2005_07_31:304606004 A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. url:http://en.wikipedia.org/wiki/Alcohol_abuse rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. DOID:1575 disease_ontology A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp limited scleroderma DOID:1577 Limited cutaneous systemic sclerosis MSH:D045745 SNOMEDCT_US_2015_03_01:128459005 SNOMEDCT_US_2015_03_01:298285004 SNOMEDCT_US_2015_03_01:299276009 UMLS_CUI:C0748540 disease_ontology systemic sclerosis, limited SNOMEDCT_2005_07_31:299276009 systemic sclerosis, limited Limited cutaneous systemic sclerosis SNOMEDCT_2005_07_31:298285004 SNOMEDCT_2005_07_31:128459005 systemic sclerosis, limited pulmonary systemic sclerosis DOID:1578 ICD10CM:M34.81 ICD9CM:517.2 SNOMEDCT_US_2015_03_01:196133001 UMLS_CUI:C0339904 disease_ontology lung disease with systemic sclerosis lung disease with systemic sclerosis (disorder) lung involvement in systemic sclerosis ICD9CM_2006:517.2 lung involvement in systemic sclerosis SNOMEDCT_2005_07_31:196133001 lung disease with systemic sclerosis (disorder) respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. DOID:1579 DOID:3226 ICD10CM:J96-J99 ICD10CM:J98 ICD9CM:510-519.99 ICD9CM:519 SNOMEDCT_US_2015_03_01:155603009 SNOMEDCT_US_2015_03_01:196057004 SNOMEDCT_US_2015_03_01:196184000 SNOMEDCT_US_2015_03_01:196255004 SNOMEDCT_US_2015_03_01:266373008 UMLS_CUI:C0029582 disease_ontology A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/File:Respiratory_system_complete_en.svg url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system diffuse scleroderma DOID:1580 MSH:D045743 SNOMEDCT_US_2015_03_01:128460000 SNOMEDCT_US_2015_03_01:444133002 UMLS_CUI:C1258104 diffuse systemic sclerosis disease_ontology systemic sclerosis, diffuse (disorder) SNOMEDCT_2005_07_31:128460000 systemic sclerosis, diffuse (disorder) CSP2005:4008-0097 diffuse systemic sclerosis laryngeal tuberculosis A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. DOID:1583 ICD10CM:A15.5 ICD9CM:012.3 MSH:D014387 NCI:C26895 SNOMEDCT_US_2015_03_01:70341005 UMLS_CUI:C0041315 disease_ontology A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. url:http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf url:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607 url:http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf acute chest syndrome A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. DOID:1584 ICD9CM:517.3 MSH:D056586 SNOMEDCT_US_2015_03_01:372146004 UMLS_CUI:C0742343 acute chest syndrome in sickle cell disease disease_ontology A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. url:http://en.wikipedia.org/wiki/Acute_chest_syndrome url:http://www.rcjournal.com/contents/03.04/03.04.0263.pdf SNOMEDCT_2005_07_31:372146004 acute chest syndrome in sickle cell disease rheumatic pneumonia DOID:1585 Rheumatic pneumonia (disorder) disease_ontology true Rheumatic pneumonia (disorder) SNOMEDCT_2005_07_31:7548000 rheumatic fever ACUTE RHEUMATIC FEVER DOID:1006 DOID:1007 DOID:1586 ICD10CM:I00 ICD10CM:I00-I02 ICD9CM:390 ICD9CM:390-392.99 MSH:D012213 NCI:C34984 RhF - Rheumatic fever SNOMEDCT_US_2015_03_01:155264006 SNOMEDCT_US_2015_03_01:155265007 SNOMEDCT_US_2015_03_01:155274009 SNOMEDCT_US_2015_03_01:194718003 SNOMEDCT_US_2015_03_01:195528001 SNOMEDCT_US_2015_03_01:24363009 SNOMEDCT_US_2015_03_01:26424001 SNOMEDCT_US_2015_03_01:266276003 SNOMEDCT_US_2015_03_01:274095001 SNOMEDCT_US_2015_03_01:58718002 SNOMEDCT_US_2015_03_01:81077008 UMLS_CUI:C0035436 UMLS_CUI:C0264743 disease_ontology ACUTE RHEUMATIC FEVER ICD9CM_2006:390-392.99 RhF - Rheumatic fever SNOMEDCT_2005_07_31:274095001 thrombocytopenia due to platelet alloimmunization Auto-immune thrombocytopenia DOID:1587 Immune thrombocytopenia (disorder) NCI:C3991 SNOMEDCT_US_2015_03_01:2897005 Thrombocytopenia Due to Immune Destruction UMLS_CUI:C0272286 disease_ontology Immune thrombocytopenia (disorder) SNOMEDCT_2005_07_31:2897005 Auto-immune thrombocytopenia SNOMEDCT_2005_07_31:142969008 Auto-immune thrombocytopenia SNOMEDCT_2005_07_31:165556002 NCI2004_11_17:C3991 Thrombocytopenia Due to Immune Destruction thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood. DOID:1588 ICD10CM:D69.6 ICD9CM:287.5 MSH:D013921 NCI:C3408 OMIM:188000 OMIM:273900 OMIM:300367 OMIM:313900 OMIM:612004 ORDO:852 SNOMEDCT_US_2015_03_01:142969008 SNOMEDCT_US_2015_03_01:154827000 SNOMEDCT_US_2015_03_01:165556002 SNOMEDCT_US_2015_03_01:191326009 SNOMEDCT_US_2015_03_01:302215000 SNOMEDCT_US_2015_03_01:415116008 SNOMEDCT_US_2015_03_01:70786006 UMLS_CUI:C0040034 Xref MGI. disease_ontology A blood platelet disease characterized by low a platelet count in the blood. url:http://en.wikipedia.org/wiki/Thrombocytopenia url:http://ghr.nlm.nih.gov/glossary=thrombocytopenia url:http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html mesothelial neoplasm DOID:159 Mesothelial neoplasm (morphologic abnormality) Mesothelial neoplasm NOS (morphologic abnormality) Mesothelial tumor Mesothelial tumor morphology (qualifier value) disease_ontology true Mesothelial tumor morphology (qualifier value) SNOMEDCT_2005_07_31:134332001 Mesothelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189832006 Mesothelial tumor NCI2004_11_17:C3786 Mesothelial neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189838005 Mesothelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115232000 renovascular hypertension DOID:1591 ICD10CM:I15.0 MSH:D006978 NCI:C85044 Renovascular hypertension (disorder) SNOMEDCT_US_2015_03_01:123799005 SNOMEDCT_US_2015_03_01:194790006 UMLS_CUI:C0020545 disease_ontology Renovascular hypertension (disorder) SNOMEDCT_2005_07_31:123799005 secondary malignant neoplasm of retroperitoneum and peritoneum DOID:1592 disease_ontology secondary malignant neoplasm of retroperitoneum and peritoneum (disorder) secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) true SNOMEDCT_2005_07_31:188447003 secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) SNOMEDCT_2005_07_31:188445006 secondary malignant neoplasm of retroperitoneum and peritoneum (disorder) metastasis to the peritoneum DOID:1593 disease_ontology metastatic neoplasm to the Peritoneum secondary malignant neoplasm of the peritoneum (disorder) true NCI2004_11_17:C4583 metastatic neoplasm to the Peritoneum SNOMEDCT_2005_07_31:94627008 secondary malignant neoplasm of the peritoneum (disorder) endogenous depression A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. DOID:1595 DOID:6340 EFO:0003761 MSH:D003866 NCI:C34532 NCI:C35094 OMIM mapping confirmed by DO. [LS]. OMIM:608516 SNOMEDCT_US_2015_03_01:154873003 SNOMEDCT_US_2015_03_01:191599006 SNOMEDCT_US_2015_03_01:231498003 SNOMEDCT_US_2015_03_01:300706003 UMLS_CUI:C0011573 UMLS_CUI:C0041696 clinical depression disease_ontology unipolar depression CSP2005:2483-6681 clinical depression A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. url:http://en.wikipedia.org/wiki/Endogenous_depression mental depression DOID:14672 DOID:1596 ICD10CM:F32.9 ICD10CM:F33.9 MSH:D003863 NCI:C2982 SNOMEDCT_US_2015_03_01:154963001 SNOMEDCT_US_2015_03_01:307537002 UMLS_CUI:C0011570 disease_ontology single episode mild major depression DOID:1597 Major depressive disorder, single episode, mild degree Mild major depression, single episode (disorder) Single major depressive episode, mild (disorder) disease_ontology true Mild major depression, single episode (disorder) SNOMEDCT_2005_07_31:79298009 SNOMEDCT_2005_07_31:191601008 Single major depressive episode, mild (disorder) ICD9CM_2006:296.21 Major depressive disorder, single episode, mild degree single episode moderate major depression DOID:1599 Major depressive disorder, single episode, moderate degree Moderate major depression, single episode (disorder) Single major depressive episode, moderate (disorder) disease_ontology true Moderate major depression, single episode (disorder) SNOMEDCT_2005_07_31:15639000 SNOMEDCT_2005_07_31:191602001 Single major depressive episode, moderate (disorder) ICD9CM_2006:296.22 Major depressive disorder, single episode, moderate degree integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. DOID:16 disease_ontology A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. url:http://en.wikipedia.org/wiki/Integumentary_system lymphadenitis Adenitis DOID:1600 DOID:1602 DOID:9941 ICD10CM:I88.1 ICD10CM:I88.9 ICD10CM:L04 ICD10CM:L04.9 ICD9CM:289.1 ICD9CM:683 Inflammation of lymph node Lymphadenitis (disorder) Lymphadenitis NOS Lymphadenitis NOS (disorder) MSH:D008199 NCI:C26821 NCI:C26966 NCI:C26978 SNOMEDCT_US_2015_03_01:154836001 SNOMEDCT_US_2015_03_01:154838000 SNOMEDCT_US_2015_03_01:156318008 SNOMEDCT_US_2015_03_01:19471005 SNOMEDCT_US_2015_03_01:200696002 SNOMEDCT_US_2015_03_01:274737001 SNOMEDCT_US_2015_03_01:287688007 SNOMEDCT_US_2015_03_01:32035007 SNOMEDCT_US_2015_03_01:41174002 UMLS_CUI:C0024205 UMLS_CUI:C0154304 UMLS_CUI:C0157705 acute Lymphadenitis acute adenitis acute lymphadenitis acute lymphadenitis (disorder) chronic Lymphadenitis chronic adenitis chronic lymphadenitis chronic lymphadenitis (disorder) chronic lymphadenitis any lymph node, except mesenteric disease_ontology SNOMEDCT_2005_07_31:32035007 chronic lymphadenitis (disorder) Lymphadenitis NOS SNOMEDCT_2005_07_31:154838000 SNOMEDCT_2005_07_31:41174002 acute lymphadenitis (disorder) MTHICD9_2006:289.1 chronic lymphadenitis any lymph node, except mesenteric ICD9CM_2006:289.1 SNOMEDCT_2005_07_31:154836001 chronic lymphadenitis Lymphadenitis NOS (disorder) SNOMEDCT_2005_07_31:287688007 Inflammation of lymph node SNOMEDCT_2005_07_31:274737001 ICD9CM_2006:683 SNOMEDCT_2005_07_31:156318008 acute lymphadenitis Adenitis NCI2004_11_17:C26821 NCI2004_11_17:C26966 chronic Lymphadenitis NCI2004_11_17:C26978 acute Lymphadenitis Lymphadenitis (disorder) SNOMEDCT_2005_07_31:19471005 hypoglycemic coma DOID:1607 Hypoglycaemic coma Hypoglycemic coma Hypoglycemic coma (disorder) Hypoglycemic coma (disorder) [Ambiguous] Hypoglycemic coma NOS (disorder) ICD10CM:E15 ICD9CM:251.0 SNOMEDCT_US_2015_03_01:154692004 SNOMEDCT_US_2015_03_01:190428000 SNOMEDCT_US_2015_03_01:190430003 SNOMEDCT_US_2015_03_01:267384006 SNOMEDCT_US_2015_03_01:267476006 SNOMEDCT_US_2015_03_01:71898001 UMLS_CUI:C0020617 disease_ontology Hypoglycemic coma (disorder) [Ambiguous] SNOMEDCT_2005_07_31:71898001 Hypoglycaemic coma SNOMEDCT_2005_07_31:267476006 Hypoglycemic coma (disorder) SNOMEDCT_2005_07_31:267384006 Hypoglycaemic coma SNOMEDCT_2005_07_31:190428000 Hypoglycaemic coma SNOMEDCT_2005_07_31:154692004 Hypoglycemic coma ICD9CM_2006:251.0 Hypoglycemic coma NOS (disorder) SNOMEDCT_2005_07_31:190430003 keratosis A skin disease characterized_by growth of keratin on the skin or mucous membranes. DOID:161 MSH:D007642 NCI:C34747 SNOMEDCT_US_2015_03_01:254666005 UMLS_CUI:C0022593 disease_ontology A skin disease characterized_by growth of keratin on the skin or mucous membranes. url:https://en.wikipedia.org/wiki/Keratosis breast cancer A thoracic cancer that originates in the mammary gland. DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MSH:D001943 NCI:C2910 NCI:C9335 OMIM:114480 OMIM:600048 OMIM:605365 ORDO:227535 SNOMEDCT_US_2015_03_01:126926005 SNOMEDCT_US_2015_03_01:154521006 SNOMEDCT_US_2015_03_01:190121004 SNOMEDCT_US_2015_03_01:254837009 SNOMEDCT_US_2015_03_01:269595005 UMLS_CUI:C0006142 UMLS_CUI:C0153555 UMLS_CUI:C1458155 Xref MGI. OMIM mapping confirmed by DO. [SN]. breast tumor disease_ontology malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary neoplasm mammary tumor primary breast cancer CSP2005:2016-0671 mammary tumor A thoracic cancer that originates in the mammary gland. url:http://en.wikipedia.org/wiki/Breast_cancer url:http://en.wikipedia.org/wiki/Mammary url:http://www.cancer.gov/cancertopics/types/breast url:http://www.nlm.nih.gov/medlineplus/breastcancer.html NCI2004_11_17:C9335 malignant tumor of the breast NCI2004_11_17:C2910 breast tumor male breast cancer DOID:1614 DOID:9796 ICD9CM:175.9 MSH:D018567 SNOMEDCT_US_2015_03_01:126937006 UMLS_CUI:C0153559 UMLS_CUI:C0242788 disease_ontology malignant neoplasm of male breast neoplasm of male breast (disorder) SNOMEDCT_2005_07_31:126937006 neoplasm of male breast (disorder) benign eccrine breast spiradenoma DOID:1616 NCI:C5193 UMLS_CUI:C1332492 benign Eccrine breast Spiradenoma disease_ontology NCI2004_11_17:C5193 benign Eccrine breast Spiradenoma breast fibroadenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. Complex Fibroadenoma of breast DOID:1618 DOID:2684 DOID:2693 DOID:7226 Fibroadenoma Fibroadenoma of breast (disorder) ICD10CM:D24 Juvenile fibroadenoma (morphologic abnormality) MSH:D018226 NCI:C3744 NCI:C4276 NCI:C5194 SNOMEDCT_US_2015_03_01:189102001 SNOMEDCT_US_2015_03_01:189820007 SNOMEDCT_US_2015_03_01:254845004 SNOMEDCT_US_2015_03_01:254847007 SNOMEDCT_US_2015_03_01:269640007 SNOMEDCT_US_2015_03_01:46212000 SNOMEDCT_US_2015_03_01:65877006 UMLS_CUI:C0178421 UMLS_CUI:C0206650 UMLS_CUI:C0346158 UMLS_CUI:C1333137 cellular Fibroadenoma disease_ontology fibroadenoma juvenile fibroadenoma of breast Fibroadenoma of breast (disorder) SNOMEDCT_2005_07_31:254845004 A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. url:http://en.wikipedia.org/wiki/Fibroadenoma url:http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm Complex Fibroadenoma of breast NCI2004_11_17:C5194 Fibroadenoma NCI2004_11_17:C3744 NCI2004_11_17:C4276 cellular Fibroadenoma Juvenile fibroadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:46212000 cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. DOID:162 ICD10CM:C80 ICD10CM:C80.1 ICD9CM:199 MSH:D009369 NCI:C9305 SNOMEDCT_US_2015_03_01:154432008 SNOMEDCT_US_2015_03_01:154433003 SNOMEDCT_US_2015_03_01:154577008 SNOMEDCT_US_2015_03_01:187597000 SNOMEDCT_US_2015_03_01:188475001 SNOMEDCT_US_2015_03_01:188482002 SNOMEDCT_US_2015_03_01:190150006 SNOMEDCT_US_2015_03_01:269513004 SNOMEDCT_US_2015_03_01:269623003 SNOMEDCT_US_2015_03_01:269626006 SNOMEDCT_US_2015_03_01:269634000 SNOMEDCT_US_2015_03_01:363346000 SNOMEDCT_US_2015_03_01:38807002 UMLS_CUI:C0006826 Updating out dated UMLS CUI. disease_ontology malignant neoplasm malignant tumor primary cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. stedman:rlc url:http://en.wikipedia.org/wiki/cancer url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer breast fibroepithelial tumor DOID:1620 disease_ontology true breast leiomyoma DOID:1623 NCI:C40399 UMLS_CUI:C1511317 disease_ontology breast soft tissue tumor DOID:1624 disease_ontology true breast adenoma Ademoma - breast DOID:1625 NCI:C40382 SNOMEDCT_US_2015_03_01:269640007 UMLS_CUI:C1328385 disease_ontology Ademoma - breast SNOMEDCT_2005_07_31:269640007 breast duct papilloma DOID:1626 NCI:C3863 SNOMEDCT_US_2015_03_01:254848002 UMLS_CUI:C0238034 disease_ontology duct papilloma of breast (disorder) papilloma of the breast NCI2004_11_17:C3863 papilloma of the breast SNOMEDCT_2005_07_31:254848002 duct papilloma of breast (disorder) intraductal papilloma DOID:1627 Intraductal papilloma (morphologic abnormality) MSH:D018300 NCI:C3785 SNOMEDCT_US_2015_03_01:5244003 UMLS_CUI:C0206713 disease_ontology ductal papilloma NCI2004_11_17:C3785 ductal papilloma Intraductal papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:5244003 intraductal papillary breast neoplasm DOID:1628 NCI:C36090 UMLS_CUI:C1334252 disease_ontology breast myofibroblastoma DOID:1629 NCI:C40397 UMLS_CUI:C1511320 disease_ontology mucoepidermoid tumor DOID:163 Mucoepidermoid neoplasm (morphologic abnormality) Mucoepidermoid neoplasm (morphology) Mucoepidermoid neoplasm NOS (morphologic abnormality) Mucoepidermoid tumor [obs] disease_ontology true Mucoepidermoid neoplasm (morphology) SNOMEDCT_2005_07_31:127571003 Mucoepidermoid neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189676001 Mucoepidermoid tumor [obs] SNOMEDCT_2005_07_31:39892006 Mucoepidermoid neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189677005 benign breast phyllodes tumor Cystosarcoma phyllodes Cystosarcoma phyllodes NOS (morphologic abnormality) Cystosarcoma phyllodes, NOS DOID:1631 DOID:1633 DOID:2608 ICD10CM:D48.6 MSH:D003557 NCI:C2977 NCI:C4274 NCI:C5196 Phyllodes neoplasm Phyllodes tumor, benign (morphologic abnormality) SNOMEDCT_US_2015_03_01:154641007 SNOMEDCT_US_2015_03_01:16566002 SNOMEDCT_US_2015_03_01:189505009 SNOMEDCT_US_2015_03_01:189825002 SNOMEDCT_US_2015_03_01:269651007 SNOMEDCT_US_2015_03_01:71232009 UMLS_CUI:C0010701 UMLS_CUI:C0334501 UMLS_CUI:C1332533 benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes disease_ontology Phyllodes tumor, benign (morphologic abnormality) SNOMEDCT_2005_07_31:16566002 Cystosarcoma phyllodes NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189825002 Cystosarcoma phyllodes, NOS SNOMEDCT_2005_07_31:71232009 Cystosarcoma phyllodes SNOMEDCT_2005_07_31:154641007 SNOMEDCT_2005_07_31:189505009 SNOMEDCT_2005_07_31:269651007 NCI2004_11_17:C5196 benign Phyllodes neoplasm of the breast NCI2004_11_17:C4274 benign Phyllodes neoplasm NCI2004_11_17:C2977 Phyllodes neoplasm breast papillomatosis DOID:1634 NCI:C6977 UMLS_CUI:C1332636 disease_ontology papillomatosis of the breast NCI2004_11_17:C6977 papillomatosis of the breast breast angiomatosis DOID:1637 NCI:C40381 UMLS_CUI:C1511284 disease_ontology central nervous system tuberculosis An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. DOID:0050121 DOID:0050122 DOID:10094 DOID:1638 DOID:1640 ICD9CM:013.2 ICD9CM:013.20 MSH:D016862 SNOMEDCT_US_2015_03_01:40769007 SNOMEDCT_US_2015_03_01:416265003 Tuberculosis of meninges and central nervous system (disorder) UMLS_CUI:C0085388 disease_ontology intracranial tuberculoma tuberculoma of brain tuberculosis of meninges and central nervous system tuberculous abscess of brain SNOMEDCT_2005_07_31:186213005 Tuberculosis of meninges and central nervous system (disorder) An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf skeletal tuberculosis An extrapulmonary tuberculosis that results in formation of lesions located_in bone. DOID:1639 ICD10CM:A18.0 ICD9CM:015 ICD9CM:015.9 MSH:D014394 SNOMEDCT_US_2015_03_01:154287006 SNOMEDCT_US_2015_03_01:17653001 SNOMEDCT_US_2015_03_01:186229002 SNOMEDCT_US_2015_03_01:186234003 SNOMEDCT_US_2015_03_01:266084009 UMLS_CUI:C0041324 disease_ontology osteoarticular tuberculosis An extrapulmonary tuberculosis that results in formation of lesions located_in bone. url:http://en.wikipedia.org/wiki/Bone_Tuberculosis cystic, mucinous, and serous neoplasm DOID:164 cystic, mucinous and serous neoplasm (morphologic abnormality) cystic, mucinous and serous tumor (qualifier value) disease_ontology true SNOMEDCT_2005_07_31:189678000 cystic, mucinous and serous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:134320000 cystic, mucinous and serous tumor (qualifier value) benign breast adenomyoepithelioma DOID:1641 NCI:C5144 UMLS_CUI:C1332477 benign Adenomyoepithelioma of the breast disease_ontology NCI2004_11_17:C5144 benign Adenomyoepithelioma of the breast breast adenomyoepithelioma A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. DOID:1642 DOID:6640 NCI:C5143 NCI:C6899 UMLS_CUI:C1334564 UMLS_CUI:C1510795 adenomyoepithelioma of the breast breast Adenomyoepithelioma with malignant Change disease_ontology malignant adenomyoepithelioma of breast NCI2004_11_17:C5143 breast Adenomyoepithelioma with malignant Change A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. url:http://www.ajronline.org/cgi/content/full/180/3/799 female breast upper-inner quadrant cancer DOID:1647 ICD9CM:174.2 SNOMEDCT_US_2015_03_01:188152004 UMLS_CUI:C0153550 disease_ontology malignant neoplasm of upper-inner quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188152004 malignant neoplasm of upper-inner quadrant of female breast (disorder) female breast lower-inner quadrant cancer DOID:1649 ICD10CM:C50.31 ICD9CM:174.3 SNOMEDCT_US_2015_03_01:188153009 UMLS_CUI:C0153551 disease_ontology malignant neoplasm of lower-inner quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188153009 malignant neoplasm of lower-inner quadrant of female breast (disorder) female breast axillary tail cancer DOID:1650 ICD10CM:C50.61 ICD9CM:174.6 SNOMEDCT_US_2015_03_01:188156001 SNOMEDCT_US_2015_03_01:93685009 UMLS_CUI:C0153554 disease_ontology malignant neoplasm of axillary tail of female breast (disorder) SNOMEDCT_2005_07_31:188156001 malignant neoplasm of axillary tail of female breast (disorder) ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. DOID:1657 ICD10CM:Q21.0 ICD9CM:745.4 Interventricular septal defect MSH:D006345 NCI:C84506 OMIM:614429 OMIM:614431 OMIM:614432 ORDO:1480 SNOMEDCT_US_2015_03_01:156914003 SNOMEDCT_US_2015_03_01:204309000 SNOMEDCT_US_2015_03_01:204310005 SNOMEDCT_US_2015_03_01:204314001 SNOMEDCT_US_2015_03_01:253549006 SNOMEDCT_US_2015_03_01:270547008 SNOMEDCT_US_2015_03_01:30288003 UMLS_CUI:C0018818 Ventricular septal abnormality Xref MGI. disease_ontology Interventricular septal defect MTHICD9_2006:745.4 A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. url:http://en.wikipedia.org/wiki/Ventricular_septal_defect url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html SNOMEDCT_2005_07_31:253549006 Ventricular septal abnormality supratentorial cancer A brain cancer that is located_in the supratentorial region. Brain neoplasm, Supratentorial DOID:1658 DOID:1659 ICD10CM:C71.0 MSH:D015173 NCI:C3397 NCI:C4964 UMLS_CUI:C0038874 UMLS_CUI:C0751589 disease_ontology malignant Supratentorial tumor A brain cancer that is located_in the supratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli Brain neoplasm, Supratentorial NCI2004_11_17:C3397 NCI2004_11_17:C4964 malignant Supratentorial tumor melanotic neuroectodermal tumor DOID:166 Infantile Melanotic neuroectodermal neoplasm MSH:D017600 Melanotic neuroectodermal tumor (morphologic abnormality) Melanotic neuroectodermal tumor of infancy (morphologic abnormality) NCI:C3717 Pigmented neuroectodermal tumour of infancy SNOMEDCT_US_2015_03_01:1513001 SNOMEDCT_US_2015_03_01:253076000 SNOMEDCT_US_2015_03_01:404042005 UMLS_CUI:C0206094 disease_ontology Pigmented neuroectodermal tumour of infancy SNOMEDCT_2005_07_31:404042005 Infantile Melanotic neuroectodermal neoplasm NCI2004_11_17:C3717 Melanotic neuroectodermal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:1513001 Melanotic neuroectodermal tumor of infancy (morphologic abnormality) SNOMEDCT_2005_07_31:253076000 malignant pineal area germ cell neoplasm DOID:1660 DOID:1663 NCI:C4659 NCI:C6767 Pineal Region germ cell tumor Pineal germ cell tumor (disorder) SNOMEDCT_US_2015_03_01:277508009 UMLS_CUI:C0349621 UMLS_CUI:C1334612 disease_ontology malignant Pineal Parenchymal germ cell tumor pineal germ cell tumor Pineal germ cell tumor (disorder) SNOMEDCT_2005_07_31:277508009 NCI2004_11_17:C4659 Pineal Region germ cell tumor NCI2004_11_17:C6767 malignant Pineal Parenchymal germ cell tumor malignant intracranial germ cell neoplasm DOID:1661 disease_ontology true pineoblastoma A pineal gland neoplasm located_in the brain. DOID:1664 MSH:D010871 NCI:C9344 Pineal PNET SNOMEDCT_US_2015_03_01:31671006 UMLS_CUI:C0205898 disease_ontology NCI2004_11_17:C9344 Pineal PNET A pineal gland neoplasm located_in the brain. url:http://en.wikipedia.org/wiki/Pinealoblastoma url:http://www.answers.com/topic/pineoblastoma central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. DOID:1665 disease_ontology embryonal neoplasm of CNS embryonal tumor of the CNS true An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. url:http://www.cancer.gov/cancertopics/childCNSembryonal NCI2004_11_17:C6990 embryonal tumor of the CNS hip enthesopathy DOID:1666 Enthesopathy of hip region Enthesopathy of hip region (disorder) Enthesopathy of the hip region Enthesopathy of the hip region (disorder) Hip enthesopathy NOS (disorder) Hip enthesopathy, unspecified (disorder) disease_ontology true Enthesopathy of the hip region (disorder) SNOMEDCT_2005_07_31:202861009 Hip enthesopathy NOS (disorder) SNOMEDCT_2005_07_31:202866004 Enthesopathy of the hip region SNOMEDCT_2005_07_31:156661004 Enthesopathy of hip region (disorder) SNOMEDCT_2005_07_31:30936004 Hip enthesopathy, unspecified (disorder) SNOMEDCT_2005_07_31:202862002 Enthesopathy of hip region ICD9CM_2006:726.5 peripheral enthesopathy DOID:1667 disease_ontology true Behcet's syndrome arthropathy Arthropathy in Behcet's syndrome involving ankle and foot Arthropathy in Behcet's syndrome involving forearm Arthropathy in Behcet's syndrome involving hand Arthropathy in Behcet's syndrome involving lower leg Arthropathy in Behcet's syndrome involving multiple sites Arthropathy in Behcet's syndrome involving pelvic region and thigh Arthropathy in Behcet's syndrome involving shoulder region Arthropathy in Behcet's syndrome involving upper arm Behcet syndrome arthropathy DOID:12407 DOID:12810 DOID:12982 DOID:1669 DOID:1670 DOID:1671 DOID:7354 DOID:8473 DOID:8522 ICD9CM:711.2 ICD9CM:711.20 NCI:C35225 SNOMEDCT_US_2015_03_01:201484007 SNOMEDCT_US_2015_03_01:201494002 SNOMEDCT_US_2015_03_01:267884002 SNOMEDCT_US_2015_03_01:62918002 UMLS_CUI:C0157770 disease_ontology spontaneous tension pneumothorax DOID:1672 ICD10CM:J93.0 ICD9CM:512.0 SNOMEDCT_US_2015_03_01:196102003 SNOMEDCT_US_2015_03_01:76537003 UMLS_CUI:C0155907 disease_ontology spontaneous tension pneumothorax (disorder) spontaneous tension pneumothorax (disorder) [Ambiguous] SNOMEDCT_2005_07_31:76537003 spontaneous tension pneumothorax (disorder) [Ambiguous] SNOMEDCT_2005_07_31:196102003 spontaneous tension pneumothorax (disorder) pneumothorax DOID:1673 ICD10CM:J93.1 SNOMEDCT_US_2015_03_01:196103008 SNOMEDCT_US_2015_03_01:196105001 SNOMEDCT_US_2015_03_01:196251008 SNOMEDCT_US_2015_03_01:266367007 UMLS_CUI:C0029850 disease_ontology low implantation of placenta DOID:1676 DOID:1677 DOID:2167 ICD10CM:O44.0 ICD9CM:641.0 SNOMEDCT_US_2015_03_01:156099007 SNOMEDCT_US_2015_03_01:198897009 SNOMEDCT_US_2015_03_01:198898004 SNOMEDCT_US_2015_03_01:198902005 SNOMEDCT_US_2015_03_01:7792000 UMLS_CUI:C0156617 disease_ontology chronic interstitial cystitis DOID:1678 ICD10CM:N30.1 ICD9CM:595.1 MSH:D018856 SNOMEDCT_US_2015_03_01:197834003 SNOMEDCT_US_2015_03_01:197838000 SNOMEDCT_US_2015_03_01:44497007 UMLS_CUI:C0600040 chronic interstitial cystitis (disorder) chronic interstitial cystitis (disorder) [Ambiguous] chronic interstitial cystitis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:44497007 chronic interstitial cystitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:197834003 chronic interstitial cystitis (disorder) SNOMEDCT_2005_07_31:197838000 chronic interstitial cystitis NOS (disorder) cystitis DOID:1679 ICD10CM:N30 ICD10CM:N30.9 ICD9CM:595 ICD9CM:595.9 MSH:D003556 NCI:C26738 SNOMEDCT_US_2015_03_01:155882000 SNOMEDCT_US_2015_03_01:155885003 SNOMEDCT_US_2015_03_01:197857009 SNOMEDCT_US_2015_03_01:266629000 SNOMEDCT_US_2015_03_01:38822007 UMLS_CUI:C0010692 disease_ontology chronic cystitis DOID:1680 ICD10CM:N30.2 ICD9CM:595.2 SNOMEDCT_US_2015_03_01:197839008 SNOMEDCT_US_2015_03_01:197842002 SNOMEDCT_US_2015_03_01:198536006 UMLS_CUI:C0156268 disease_ontology heart septal defect Cardiac septal defects Cardiac septal defects (disorder) Congenital septal defect of heart (disorder) DOID:1681 ICD10CM:Q21 ICD10CM:Q21.9 MSH:D006343 NCI:C84482 SNOMEDCT_US_2015_03_01:156916001 SNOMEDCT_US_2015_03_01:204290008 SNOMEDCT_US_2015_03_01:253273004 SNOMEDCT_US_2015_03_01:287081002 SNOMEDCT_US_2015_03_01:396351009 SNOMEDCT_US_2015_03_01:59494005 SNOMEDCT_US_2015_03_01:8352002 Septal defect NOS Septal defect NOS (disorder) UMLS_CUI:C0018816 disease_ontology septal defect Congenital septal defect of heart (disorder) SNOMEDCT_2005_07_31:59494005 Cardiac septal defects SNOMEDCT_2005_07_31:204290008 SNOMEDCT_2005_07_31:287081002 Septal defect NOS (disorder) SNOMEDCT_2005_07_31:156916001 Septal defect NOS Cardiac septal defects (disorder) SNOMEDCT_2005_07_31:253273004 MTHICD9_2006:745.9 Septal defect NOS CSP2005:0725-0467 septal defect congenital heart disease Congenital Heart Defects Congenital anomaly of heart DOID:1682 Heart Malformation Heart-congenital defect ICD10CM:Q24.9 ICD9CM:746.9 MSH:D006330 NCI:C34666 OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2015_03_01:13213009 SNOMEDCT_US_2015_03_01:156911006 SNOMEDCT_US_2015_03_01:156926008 SNOMEDCT_US_2015_03_01:204405005 SNOMEDCT_US_2015_03_01:204413006 SNOMEDCT_US_2015_03_01:268315002 SNOMEDCT_US_2015_03_01:268318000 UMLS_CUI:C0018798 congenital heart defect disease_ontology heart defect CSP2005:0724-8315 heart defect Heart Malformation NCI2004_11_17:C34666 Congenital anomaly of heart SNOMEDCT_2005_07_31:13213009 Congenital Heart Defects MTH:NOCODE Heart-congenital defect SNOMEDCT_2005_07_31:156911006 glaucoma associated with vascular disorder DOID:1685 disease_ontology true glaucoma DOID:1686 EFO:0000516 ICD10CM:H40 ICD10CM:H40-H42 ICD10CM:H40.9 ICD9CM:365 ICD9CM:365.9 MSH:D005901 NCI:C26782 SNOMEDCT_US_2015_03_01:155120009 SNOMEDCT_US_2015_03_01:193569008 SNOMEDCT_US_2015_03_01:194631001 SNOMEDCT_US_2015_03_01:23986001 UMLS_CUI:C0017601 disease_ontology neovascular glaucoma DOID:1687 MSH:D015355 Neovascular glaucoma Neovascular glaucoma (disorder) SNOMEDCT_US_2015_03_01:193564003 SNOMEDCT_US_2015_03_01:232086000 SNOMEDCT_US_2015_03_01:314785001 UMLS_CUI:C0017609 disease_ontology secondary angle-closure glaucoma with rubeosis SNOMEDCT_2005_07_31:314785001 secondary angle-closure glaucoma with rubeosis Neovascular glaucoma SNOMEDCT_2005_07_31:193564003 Neovascular glaucoma (disorder) SNOMEDCT_2005_07_31:232086000 neuroendocrine tumor An endocrine gland cancer that has_material_basis_in neuroendocrine cells. DOID:169 ICD10CM:D3A.8 ICD9CM:209 ICD9CM:209-209.99 MSH:D018358 NCI:C3809 SNOMEDCT_US_2015_03_01:128928004 SNOMEDCT_US_2015_03_01:255046005 UMLS_CUI:C0206754 disease_ontology neuroendocrine neoplasm An endocrine gland cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_cell url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 SNOMEDCT_2005_07_31:128928004 neuroendocrine neoplasm congenital ichthyosis (Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS) Congenital ichthyosis of skin (disorder) Congenital ichthyosis, unspecified (disorder) DOID:1695 Ichthyosis congenita Ichthyosis congenita NOS (disorder) disease_ontology ichthyosis congenita true Congenital ichthyosis, unspecified (disorder) SNOMEDCT_2005_07_31:205547001 Ichthyosis congenita NOS (disorder) SNOMEDCT_2005_07_31:268283000 (Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS) SNOMEDCT_2005_07_31:205556009 Ichthyosis congenita SNOMEDCT_2005_07_31:268355000 CSP2005:0726-9470 ichthyosis congenita ICD9CM_2006:757.1 Ichthyosis congenita Congenital ichthyosis of skin (disorder) SNOMEDCT_2005_07_31:13059002 Ichthyosis congenita SNOMEDCT_2005_07_31:157017000 ichthyosis DOID:1697 disease_ontology ichthyoses true congenital ichthyosiform erythroderma Alligator skin Congenital non bullous ichthyosiform erythroderma DOID:1696 DOID:1699 ICD10CM:Q80.2 Ichthyosiform erythroderma Lamellar desquamation of the newborn MSH:D016113 MSH:D017490 NCI:C84805 OMIM mapping confirmed by DO. [SN]. OMIM:242100 SNOMEDCT_US_2015_03_01:12215009 SNOMEDCT_US_2015_03_01:205549003 SNOMEDCT_US_2015_03_01:205550003 SNOMEDCT_US_2015_03_01:205556009 SNOMEDCT_US_2015_03_01:254156001 SNOMEDCT_US_2015_03_01:267372009 SNOMEDCT_US_2015_03_01:268245001 SNOMEDCT_US_2015_03_01:268282005 SNOMEDCT_US_2015_03_01:35970001 UMLS_CUI:C0079154 UMLS_CUI:C0079583 disease_ontology lamellar ichthyosis nonbullous congenital ichthyosiform erythroderma CSP2005:0726-9470 lamellar ichthyosis Ichthyosiform erythroderma MTHICD9_2006:757.1 SNOMEDCT_2005_07_31:205549003 Congenital non bullous ichthyosiform erythroderma SNOMEDCT_2005_07_31:12215009 Alligator skin SNOMEDCT_2005_07_31:205556009 Lamellar desquamation of the newborn SNOMEDCT_2005_07_31:268245001 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system. DOID:17 MSH:D009140 NCI:C107377 SNOMEDCT_US_2015_03_01:156881000 SNOMEDCT_US_2015_03_01:268047003 SNOMEDCT_US_2015_03_01:268142006 SNOMEDCT_US_2015_03_01:274149006 SNOMEDCT_US_2015_03_01:928000 UMLS_CUI:C0026857 disease_ontology A disease of anatomical entity that occurs in the muscular and/or skeletal system. url:http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders endocrine gland cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. DOID:10009 DOID:170 Endocrine tumor ICD10CM:C75.9 ICD9CM:194.9 MSH:D004701 NCI:C3010 NCI:C3575 SNOMEDCT_US_2015_03_01:127015005 SNOMEDCT_US_2015_03_01:190140005 SNOMEDCT_US_2015_03_01:363347009 SNOMEDCT_US_2015_03_01:371982006 SNOMEDCT_US_2015_03_01:387922007 SNOMEDCT_US_2015_03_01:387927001 SNOMEDCT_US_2015_03_01:93780007 UMLS_CUI:C0014132 UMLS_CUI:C0153658 disease_ontology endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland (disorder) neoplasm of endocrine system (disorder) NCI2004_11_17:C3575 malignant Endocrine tumor SNOMEDCT_2005_07_31:387922007 neoplasm of endocrine gland (disorder) Endocrine tumor NCI2004_11_17:C3010 CSP2005:2009-5861 endocrine neoplasm SNOMEDCT_2005_07_31:387927001 neoplasm of endocrine system (disorder) An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. url:http://en.wikipedia.org/wiki/Endocrine_system SNOMEDCT_2005_07_31:127015005 neoplasm of endocrine gland (disorder) SNOMEDCT_2005_07_31:93780007 malignant tumour of endocrine gland X-linked ichthyosis DOID:1700 ICD10CM:Q80.1 MSH:D016114 NCI:C84779 OMIM mapping confirmed by DO. [LS]. OMIM:308100 SNOMEDCT_US_2015_03_01:205552006 SNOMEDCT_US_2015_03_01:254160003 SNOMEDCT_US_2015_03_01:402771003 SNOMEDCT_US_2015_03_01:72523005 UMLS_CUI:C0079588 X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis disease_ontology SNOMEDCT_2005_07_31:72523005 X-linked ichthyosis with steryl-sulphatase deficiency SNOMEDCT_2005_07_31:205552006 X-linked recessive ichthyosis SNOMEDCT_2005_07_31:3944006 X-linked placental steryl-sulphatase deficiency steroid inherited metabolic disorder A lipid metabolism disorder that involves defects in steroid metabolism. DOID:1701 MSH:D043202 UMLS_CUI:C1257809 disease_ontology A lipid metabolism disorder that involves defects in steroid metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism url:http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140 ichthyosis vulgaris DOID:1702 Dominant congenital ichthyosiform erythroderma (disorder) ICD10CM:Q80.0 MSH:D016112 NCI:C84778 OMIM mapping confirmed by DO. [SN]. OMIM:146700 SNOMEDCT_US_2015_03_01:20512000 SNOMEDCT_US_2015_03_01:205551004 SNOMEDCT_US_2015_03_01:254157005 UMLS_CUI:C0079584 disease_ontology Dominant congenital ichthyosiform erythroderma (disorder) SNOMEDCT_2005_07_31:20512000 Richter's syndrome DOID:1703 ICD10CM:C91.1 NCI:C35424 Richter syndrome SNOMEDCT_US_2015_03_01:277550009 UMLS_CUI:C0349631 disease_ontology rickettsiosis DOID:0050027 DOID:0050031 DOID:0050033 DOID:10243 DOID:1709 disease_ontology flea-borne rickettsiosis mite-borne rickettsiosis rickettsia infection rickettsiosis tick-borne rickettsiosis true neuroectodermal tumor DOID:171 MSH:D017599 NCI:C3716 SNOMEDCT_US_2015_03_01:253096008 SNOMEDCT_US_2015_03_01:73676002 UMLS_CUI:C0206093 disease_ontology primitive Neuroectodermal neoplasm NCI2004_11_17:C3716 primitive Neuroectodermal neoplasm aortic valve stenosis AS An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. Aortic stenosis Congenital aortic valve stenosis DOID:12034 DOID:1711 DOID:1712 ICD10CM:I06.0 ICD10CM:Q23.0 ICD9CM:395.0 ICD9CM:746.3 MSH:D001024 NCI:C50462 OMIM:109730 OMIM:614823 ORDO:402075 Rheumatic aortic stenosis SNOMEDCT_US_2015_03_01:155282009 SNOMEDCT_US_2015_03_01:156922005 SNOMEDCT_US_2015_03_01:18546004 SNOMEDCT_US_2015_03_01:390722003 SNOMEDCT_US_2015_03_01:60573004 SNOMEDCT_US_2015_03_01:72011007 UMLS_CUI:C0003507 UMLS_CUI:C0152417 UMLS_CUI:C0155567 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology rheumatic aortic valve stenosis Congenital aortic valve stenosis SNOMEDCT_2005_07_31:156922005 An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis Aortic stenosis SNOMEDCT_2005_07_31:390722003 ICD9CM_2006:395.0 Rheumatic aortic stenosis SNOMEDCT_2005_07_31:155282009 benign shuddering attacks DOID:1713 ICD10CM:G25.83 ICD9CM:333.93 SNOMEDCT_US_2015_03_01:446995005 UMLS_CUI:C0375200 disease_ontology clear cell acanthoma Clear cell acanthoma (disorder) Clear cell acanthoma (morphologic abnormality) DOID:172 MSH:D049309 NCI:C97041 Pale (Clear cell) acanthoma SNOMEDCT_US_2015_03_01:254670002 SNOMEDCT_US_2015_03_01:65540008 UMLS_CUI:C0333992 disease_ontology Clear cell acanthoma (disorder) SNOMEDCT_2005_07_31:254670002 NCI2004_11_17:C4085 Pale (Clear cell) acanthoma Clear cell acanthoma (morphologic abnormality) SNOMEDCT_2005_07_31:65540008 duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295. Curling Ulcer Curling's ulcers (disorder) DOID:10297 DOID:11480 DOID:12880 DOID:13836 DOID:1723 DOID:1724 DOID:9780 DOID:9781 DOID:9782 DOID:9783 DU - acute + perforation ICD10CM:K26 ICD9CM:532 MSH:D004381 NCI:C26755 SNOMEDCT_US_2015_03_01:155691003 SNOMEDCT_US_2015_03_01:155700000 SNOMEDCT_US_2015_03_01:196651004 SNOMEDCT_US_2015_03_01:196669008 SNOMEDCT_US_2015_03_01:196672001 SNOMEDCT_US_2015_03_01:196679005 SNOMEDCT_US_2015_03_01:196680008 SNOMEDCT_US_2015_03_01:235703009 SNOMEDCT_US_2015_03_01:367474008 SNOMEDCT_US_2015_03_01:39755000 SNOMEDCT_US_2015_03_01:51868009 SNOMEDCT_US_2015_03_01:553009 Stress Ulcer Stress ulcer (disorder) Stress ulcer NOS UMLS_CUI:C0010474 UMLS_CUI:C0013295 disease_ontology SNOMEDCT_2005_07_31:415623008 SNOMEDCT_2005_07_31:77282005 Stress ulcer (disorder) DU - acute + perforation SNOMEDCT_2005_07_31:266500006 Curling's ulcers (disorder) SNOMEDCT_2005_07_31:39755000 SNOMEDCT_2005_07_31:196681007 Stress ulcer NOS NCI2004_11_17:C35263 Stress Ulcer peritoneum cancer An organ system cancer that is located in the peritoneum. DOID:1725 ICD10CM:C48.1 ICD9CM:158.8 SNOMEDCT_US_2015_03_01:187808008 SNOMEDCT_US_2015_03_01:187816004 UMLS_CUI:C0153466 cancer of peritoneum disease_ontology peritoneal neoplasm An organ system cancer that is located in the peritoneum. url:http://en.wikipedia.org/wiki/Peritoneal_cancer partial of retinal vein occlusion DOID:1726 ICD10CM:H34.82 NCI:C35341 Partial Retinal Vein Occlusion Partial occlusion of retinal vein (disorder) SNOMEDCT_US_2015_03_01:65593009 UMLS_CUI:C0271080 disease_ontology NCI2004_11_17:C35341 Partial Retinal Vein Occlusion Partial occlusion of retinal vein (disorder) SNOMEDCT_2005_07_31:65593009 retinal vein occlusion DOID:1727 MSH:D012170 NCI:C34981 Occlusion, of retinal vein Retinal vein occlusion SNOMEDCT_US_2015_03_01:46085004 UMLS_CUI:C0035328 disease_ontology Retinal vein occlusion SNOMEDCT_2005_07_31:46085004 MTHICD9_2006:362.37 Occlusion, of retinal vein retinal vascular occlusion DOID:1729 ICD10CM:H34 ICD10CM:H34.9 ICD9CM:362.3 ICD9CM:362.30 NCI:C34980 Retinal vasc. occlusion Retinal vascular Occlusion Retinal vascular occlusion (disorder) Retinal vascular occlusion NOS (disorder) Retinal vascular occlusion, unspecified SNOMEDCT_US_2015_03_01:155111000 SNOMEDCT_US_2015_03_01:193373007 SNOMEDCT_US_2015_03_01:193380009 SNOMEDCT_US_2015_03_01:267717005 SNOMEDCT_US_2015_03_01:73757007 UMLS_CUI:C0035326 Unspecified retinal vascular occlusion (disorder) disease_ontology Retinal vascular occlusion NOS (disorder) SNOMEDCT_2005_07_31:193380009 SNOMEDCT_2005_07_31:193373007 Unspecified retinal vascular occlusion (disorder) Retinal vasc. occlusion SNOMEDCT_2005_07_31:267717005 Retinal vascular occlusion (disorder) SNOMEDCT_2005_07_31:73757007 ICD9CM_2006:362.30 Retinal vascular occlusion, unspecified NCI2004_11_17:C34980 Retinal vascular Occlusion Retinal vasc. occlusion SNOMEDCT_2005_07_31:155111000 eccrine sweat gland neoplasm DOID:173 Eccrine tumor NCI:C6796 UMLS_CUI:C1333371 disease_ontology eccrine skin neoplasm Eccrine tumor NCI2004_11_17:C6796 histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. DOID:1730 Histoplasmosis with pneumonia (disorder) Pneumonia with histoplasmosis (disorder) disease_ontology true A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf Pneumonia with histoplasmosis (disorder) SNOMEDCT_2005_07_31:195905006 Histoplasmosis with pneumonia (disorder) SNOMEDCT_2005_07_31:187061004 histoplasmosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. DOID:1731 DOID:351 ICD10CM:B39 ICD10CM:B39.9 ICD9CM:115 ICD9CM:115.9 MSH:C538362 MSH:D006660 NCI:C34977 NCI:C77201 Reticuloendothelial hyperplasia SNOMEDCT_US_2015_03_01:12962009 SNOMEDCT_US_2015_03_01:154408001 SNOMEDCT_US_2015_03_01:187055002 SNOMEDCT_US_2015_03_01:187056001 SNOMEDCT_US_2015_03_01:187063001 SNOMEDCT_US_2015_03_01:187482000 SNOMEDCT_US_2015_03_01:266218008 UMLS_CUI:C0019655 UMLS_CUI:C0035288 disease_ontology reticuloendotheliosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. url:http://www.cdc.gov/niosh/hi97146.html CSP2005:0427-8963 reticuloendotheliosis NCI2004_11_17:C34977 Reticuloendothelial hyperplasia cryptosporidiosis A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. Cryptosporidial gastroenteritis (disorder) DOID:1732 DOID:1733 ICD10CM:A07.2 ICD9CM:007.4 Infection by Cryptosporidium (disorder) MSH:D003457 SNOMEDCT_US_2015_03_01:186126003 SNOMEDCT_US_2015_03_01:240370009 SNOMEDCT_US_2015_03_01:58777003 UMLS_CUI:C0010418 disease_ontology intestinal cryptosporidiosis Cryptosporidial gastroenteritis (disorder) SNOMEDCT_2005_07_31:66160001 Infection by Cryptosporidium (disorder) SNOMEDCT_2005_07_31:58777003 A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm ICD9CM_2006:007.4 intestinal cryptosporidiosis viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. DOID:1497 DOID:1734 disease_ontology true A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1 duodenal benign neoplasm DOID:1737 MSH:D004379 NCI:C2995 SNOMEDCT_US_2015_03_01:126833009 UMLS_CUI:C0013291 disease_ontology neoplasm of duodenum neoplasm of the duodenum SNOMEDCT_2005_07_31:126833009 neoplasm of duodenum NCI2004_11_17:C2995 neoplasm of the duodenum small intestine leiomyoma DOID:1738 NCI:C7725 SNOMEDCT_US_2015_03_01:424279009 UMLS_CUI:C0238197 disease_ontology leiomyoma, small Bowel NCI2004_11_17:C7725 leiomyoma, small Bowel acanthoma DOID:174 MSH:D049309 NCI:C7419 UMLS_CUI:C0846967 disease_ontology drug-induced psychotic disease with delusion DOID:1741 disease_ontology true drug psychosis DOID:1742 Drug-induced psychosis Drug-induced psychotic disorder ICD9CM:292.1 MSH:D011605 SNOMEDCT_US_2015_03_01:154855001 SNOMEDCT_US_2015_03_01:191483003 SNOMEDCT_US_2015_03_01:191498001 UMLS_CUI:C0033937 disease_ontology Drug-induced psychotic disorder ICD9CM_2006:292.1 Drug-induced psychosis SNOMEDCT_2005_07_31:154855001 malignant lymphatic vessel tumor DOID:1744 Lymphatic vessel tumor (morphologic abnormality) Lymphatic vessel tumor (qualifier value) Lymphatic vessel tumor NOS (morphologic abnormality) disease_ontology neoplasm of the Lymphatic Vessel true NCI2004_11_17:C3723 neoplasm of the Lymphatic Vessel Lymphatic vessel tumor (qualifier value) SNOMEDCT_2005_07_31:134168002 Lymphatic vessel tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115236002 Lymphatic vessel tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189876004 conjunctiva squamous cell carcinoma Conjunctival Epidermoid carcinoma DOID:1748 NCI:C4549 SNOMEDCT_US_2015_03_01:255003007 UMLS_CUI:C0346359 disease_ontology squamous cell carcinoma of colon squamous cell carcinoma of conjunctiva (disorder) Conjunctival Epidermoid carcinoma NCI2004_11_17:C4549 SNOMEDCT_2005_07_31:255003007 squamous cell carcinoma of conjunctiva (disorder) squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells. DOID:1749 DOID:5512 EFO:0000707 MSH:D002294 MSH:D018307 NCI:C2929 SNOMEDCT_US_2015_03_01:154605007 SNOMEDCT_US_2015_03_01:189566008 SNOMEDCT_US_2015_03_01:28899001 SNOMEDCT_US_2015_03_01:402815007 UMLS_CUI:C0007137 UMLS_CUI:C0751688 disease_ontology epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer squamous cell carcinoma (disorder) squamous cell carcinoma (morphologic abnormality) squamous cell carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:28899001 squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:189566008 squamous cell carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:402815007 squamous cell carcinoma (disorder) NCI2004_11_17:C2929 squamous carcinoma A carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma url:http://www.medicinenet.com/skin_cancer/page2.htm NCI2004_11_17:C8999 squamous cell Epithelioma NCI2004_11_17:C4971 malignant squamous cell tumor CSP2005:2000-3145 epidermoid carcinoma vascular cancer A cardiovascular cancer that is located_in blood vessels. Blood Vessel neoplasm Blood vessel tumor (morphologic abnormality) Blood vessel tumors (morphologic abnormality) Blood vessel tumour disorder DOID:175 DOID:3339 DOID:5454 DOID:5548 DOID:7019 DOID:7020 DOID:7392 Haemangiomatous tumour MSH:D019043 NCI:C5348 NCI:C5380 NCI:C5383 NCI:C5388 NCI:C7388 NCI:C7390 SNOMEDCT_US_2015_03_01:126737003 SNOMEDCT_US_2015_03_01:93817006 UMLS_CUI:C0282607 UMLS_CUI:C0346845 UMLS_CUI:C1290407 UMLS_CUI:C1334616 UMLS_CUI:C1334617 UMLS_CUI:C1334630 UMLS_CUI:C1335753 blood vessel neoplasm disease_ontology leiomyosarcoma of the renal Vein malignant great vessel tumor malignant tumor of pulmonary Vein malignant tumor of pulmonary artery malignant vascular neoplasm malignant vascular tumor neoplasm of great vessel pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm renal vein leiomyosarcoma vascular tissue neoplasm vascular tumors A cardiovascular cancer that is located_in blood vessels. url:http://en.wikipedia.org/wiki/Vascular Blood Vessel neoplasm NCI2004_11_17:C7387 Blood vessel tumors (morphologic abnormality) SNOMEDCT_2005_07_31:189862000 Haemangiomatous tumour SNOMEDCT_2005_07_31:189874001 NCI2004_11_17:C5383 malignant tumor of pulmonary Vein NCI2004_11_17:C5388 leiomyosarcoma of the renal Vein CSP2005:2007-0683 blood vessel neoplasm NCI2004_11_17:C7390 malignant vascular tumor Blood vessel tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115235003 NCI2004_11_17:C5380 malignant tumor of pulmonary artery Blood vessel tumour disorder SNOMEDCT_2005_07_31:126736007 NCI2004_11_17:C7388 vascular tumors malignant conjunctiva melanoma Conjunctival melanoma DOID:1751 NCI:C4550 SNOMEDCT_US_2015_03_01:255004001 UMLS_CUI:C0346360 disease_ontology malignant melanoma of conjunctiva (disorder) Conjunctival melanoma NCI2004_11_17:C4550 SNOMEDCT_2005_07_31:255004001 malignant melanoma of conjunctiva (disorder) ocular melanoma An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. DOID:1752 disease_ontology eye melanoma intraocular melanoma melanoma of eye An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. url:http://www.cancer.gov/dictionary?CdrID=269467 NCI2004_11_17:C8562 melanoma of eye mitral valve stenosis A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. DOID:1754 MSH:D008946 Mitral stenosis NCI:C50654 SNOMEDCT_US_2015_03_01:155277002 SNOMEDCT_US_2015_03_01:194725005 SNOMEDCT_US_2015_03_01:79619009 UMLS_CUI:C0026269 disease_ontology A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. url:http://en.wikipedia.org/wiki/Mitral_valve_stenosis Mitral stenosis SNOMEDCT_2005_07_31:194725005 facial nerve disease DOID:1756 ICD10CM:G51 ICD10CM:G51.9 ICD9CM:351 ICD9CM:351.9 MSH:D005155 NCI:C27594 SNOMEDCT_US_2015_03_01:155069009 SNOMEDCT_US_2015_03_01:155071009 SNOMEDCT_US_2015_03_01:193097005 SNOMEDCT_US_2015_03_01:230543003 SNOMEDCT_US_2015_03_01:267704007 SNOMEDCT_US_2015_03_01:422426003 SNOMEDCT_US_2015_03_01:90039006 UMLS_CUI:C0015464 disease_ontology facial hemiatrophy DOID:1757 MSH:D005150 NCI:C84703 OMIM mapping confirmed by DO. [SN]. OMIM:141300 PARRY-ROMBERG SYNDROME SNOMEDCT_US_2015_03_01:29868009 SNOMEDCT_US_2015_03_01:95834000 UMLS_CUI:C0015458 disease_ontology Histoplasma capsulatum pneumonia An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. DOID:1758 disease_ontology true An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf American histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. DOID:1759 ICD10CM:B39.4 ICD9CM:115.0 SNOMEDCT_US_2015_03_01:187036002 SNOMEDCT_US_2015_03_01:187037006 SNOMEDCT_US_2015_03_01:187046000 SNOMEDCT_US_2015_03_01:76255006 UMLS_CUI:C0153261 disease_ontology A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16940867 cardiovascular cancer An organ system cancer that located_in the heart and blood vessels. Cardiovascular tumors DOID:176 NCI:C4784 UMLS_CUI:C0497243 cardiovascular neoplasm disease_ontology An organ system cancer that located_in the heart and blood vessels. url:http://www.cancer.gov/dictionary?CdrID=44005 url:http://www.healthcentral.com/heart-disease/h/cardiovascular-cancer.html CSP2005:2007-0683 cardiovascular neoplasm Cardiovascular tumors NCI2004_11_17:C4784 facial nerve neoplasm DOID:1760 NCI:C5827 SNOMEDCT_US_2015_03_01:126973004 UMLS_CUI:C1263899 disease_ontology neoplasm of facial nerve (disorder) tumor of Facial nerve NCI2004_11_17:C5827 tumor of Facial nerve SNOMEDCT_2005_07_31:126973004 neoplasm of facial nerve (disorder) Melkersson-Rosenthal syndrome Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder) DOID:1761 ICD10CM:G51.2 MSH:D008556 Melkersson's syndrome Melkersson's syndrome (disorder) NCI:C84886 OMIM mapping confirmed by DO. [SN]. OMIM:155900 SNOMEDCT_US_2015_03_01:215617000 SNOMEDCT_US_2015_03_01:2511001 SNOMEDCT_US_2015_03_01:37770007 UMLS_CUI:C0025235 disease_ontology Melkersson's syndrome (disorder) SNOMEDCT_2005_07_31:37770007 Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal SNOMEDCT_2005_07_31:2511001 MTHICD9_2006:351.8 Melkersson's syndrome Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder) SNOMEDCT_2005_07_31:215617000 cheilitis A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. DOID:1762 HP:0100825 ICD10CM:K13.0 MSH:D002613 NCI:C79545 SNOMEDCT_US_2015_03_01:155664000 SNOMEDCT_US_2015_03_01:196557006 SNOMEDCT_US_2015_03_01:266495008 SNOMEDCT_US_2015_03_01:7847004 UMLS_CUI:C0007971 disease_ontology A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. url:http://en.wikipedia.org/wiki/Cheilitis factitious disorder A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. DOID:1766 ICD10CM:F68.11 ICD9CM:300.16 Munchausen syndrome SNOMEDCT_US_2015_03_01:31122002 SNOMEDCT_US_2015_03_01:430751001 UMLS_CUI:C0015481 disease_ontology A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. url:http://en.wikipedia.org/wiki/Factitious_disorder url:http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx conversion disorder A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. Conversion Hysterical Neurosis Conversion hysteria or reaction DOID:1768 Hysterical neurosis, conversion type ICD10CM:F44 ICD9CM:300.11 MSH:D003291 SNOMEDCT_US_2015_03_01:20734000 SNOMEDCT_US_2015_03_01:44376007 SNOMEDCT_US_2015_03_01:89239005 UMLS_CUI:C0009946 disease_ontology Hysterical neurosis, conversion type SNOMEDCT_2005_07_31:89239005 A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. url:http://en.wikipedia.org/wiki/Conversion_disorder Conversion hysteria or reaction MTHICD9_2006:300.11 Conversion Hysterical Neurosis MTH:NOCODE toxic megacolon DOID:1770 ICD10CM:K59.3 MSH:D008532 SNOMEDCT_US_2015_03_01:28536002 Toxic megacolon (disorder) UMLS_CUI:C0025162 disease_ontology SNOMEDCT_2005_07_31:28536002 Toxic megacolon (disorder) labyrinthine unilateral reactive loss DOID:1776 ICD9CM:386.55 Labyrinthine unilateral reactive loss (disorder) Loss of labyrinthine reactivity, unilateral SNOMEDCT_US_2015_03_01:194376005 SNOMEDCT_US_2015_03_01:43000004 UMLS_CUI:C0155519 Unilateral loss of labyrinthine reactivity (disorder) disease_ontology Labyrinthine unilateral reactive loss (disorder) SNOMEDCT_2005_07_31:194376005 ICD9CM_2006:386.55 Loss of labyrinthine reactivity, unilateral SNOMEDCT_2005_07_31:43000004 Unilateral loss of labyrinthine reactivity (disorder) unilateral hyperactive labyrinth DOID:1777 ICD9CM:386.51 SNOMEDCT_US_2015_03_01:111542008 SNOMEDCT_US_2015_03_01:194372007 UMLS_CUI:C0155515 Unilateral hyperactive labyrinth (disorder) disease_ontology hyperactive labyrinth, unilateral hyperactive unilateral labyrinthine dysfunction (disorder) ICD9CM_2006:386.51 hyperactive labyrinth, unilateral SNOMEDCT_2005_07_31:111542008 Unilateral hyperactive labyrinth (disorder) SNOMEDCT_2005_07_31:194372007 hyperactive unilateral labyrinthine dysfunction (disorder) vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. DOID:0000405 DOID:178 DOID:2403 DOID:2869 DOID:324 DOID:325 DOID:45 ICD10CM:I72.9 ICD9CM:442.9 MSH:D000783 MSH:D014652 MSH:D020758 MSH:D020760 NCI:C26693 NCI:C35117 SNOMEDCT_US_2015_03_01:134342004 SNOMEDCT_US_2015_03_01:155425005 SNOMEDCT_US_2015_03_01:155428007 SNOMEDCT_US_2015_03_01:195292009 SNOMEDCT_US_2015_03_01:27550009 SNOMEDCT_US_2015_03_01:362727005 SNOMEDCT_US_2015_03_01:371029002 SNOMEDCT_US_2015_03_01:432119003 SNOMEDCT_US_2015_03_01:85659009 UMLS_CUI:C0002940 UMLS_CUI:C0042373 UMLS_CUI:C0752127 UMLS_CUI:C0752130 disease_ontology vascular tissue disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. url:http://en.wikipedia.org/wiki/Vascular_disease thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. DOID:10008 DOID:1781 ICD10CM:C73 ICD9CM:193 KEGG:05216 MSH:D013964 NCI:C3414 NCI:C7510 SNOMEDCT_US_2015_03_01:127018007 SNOMEDCT_US_2015_03_01:154554008 SNOMEDCT_US_2015_03_01:363478007 SNOMEDCT_US_2015_03_01:94098005 Thyroid gland neoplasm UMLS_CUI:C0007115 UMLS_CUI:C0040136 disease_ontology malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid neoplasm NCI2004_11_17:C3414 Thyroid gland neoplasm ICD9CM_2006:193 malignant neoplasm of thyroid gland MTH:NOCODE thyroid neoplasm SNOMEDCT_2005_07_31:127018007 neoplasm of thyroid gland SNOMEDCT_2005_07_31:154554008 malignant tumour of thyroid gland An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. url:http://en.wikipedia.org/wiki/Thyroid_gland pituitary cancer An endocrine gland cancer located_in the pituitary gland located at the base of the brain. DOID:1785 DOID:5671 ICD10CM:C75.1 MSH:D010911 NCI:C3330 NCI:C4769 Pituitary gland neoplasm SNOMEDCT_US_2015_03_01:127024001 SNOMEDCT_US_2015_03_01:363482009 SNOMEDCT_US_2015_03_01:93964007 UMLS_CUI:C0032019 UMLS_CUI:C0496842 disease_ontology malignant Pituitary neoplasm malignant tumor of pituitary gland (disorder) neoplasm of pituitary gland (disorder) pituitary gland cancer pituitary neoplasm SNOMEDCT_2005_07_31:127024001 neoplasm of pituitary gland (disorder) SNOMEDCT_2005_07_31:363482009 malignant tumor of pituitary gland (disorder) CSP2005:2006-7421 pituitary neoplasm An endocrine gland cancer located_in the pituitary gland located at the base of the brain. url:http://en.wikipedia.org/wiki/Pituitary_gland NCI2004_11_17:C4769 malignant Pituitary neoplasm NCI2004_11_17:C3330 Pituitary gland neoplasm adrenal rest tumor Adrenal Rest neoplasm DOID:1786 MSH:D000314 NCI:C2860 SNOMEDCT_US_2015_03_01:54292009 UMLS_CUI:C0001630 disease_ontology Adrenal Rest neoplasm NCI2004_11_17:C2860 pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. DOID:1787 MSH:D010493 NCI:C34915 SNOMEDCT_US_2015_03_01:3238004 UMLS_CUI:C0031046 disease_ontology A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. url:http://en.wikipedia.org/wiki/Pericarditis peritoneal mesothelioma A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. Advanced malignant Mesothelioma of Peritoneum DOID:0050874 DOID:1788 DOID:7954 ICD10CM:C45.1 NCI:C8704 NCI:C9350 SNOMEDCT_US_2015_03_01:109853004 SNOMEDCT_US_2015_03_01:187806007 UMLS_CUI:C0346109 UMLS_CUI:C0854886 advanced malignant peritoneal mesothelioma disease_ontology malignant mesothelioma of peritoneum A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. url:http://en.wikipedia.org/wiki/Mesothelioma Advanced malignant Mesothelioma of Peritoneum NCI2004_11_17:C8704 SNOMEDCT_2005_07_31:187806007 malignant mesothelioma of peritoneum benign peritoneal mesothelioma DOID:1789 Mesothelioma of Peritoneum NCI:C7633 UMLS_CUI:C1377610 disease_ontology Mesothelioma of Peritoneum NCI2004_11_17:C7633 malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue. DOID:1790 DOID:4487 DOID:6965 DOID:7434 Diffuse malignant Mesothelioma MSH:C562839 NCI:C27926 NCI:C4456 NCI:C7865 NCI:C8420 OMIM mapping confirmed by DO. [SN]. OMIM:156240 SNOMEDCT_US_2015_03_01:62064005 UMLS_CUI:C0278752 UMLS_CUI:C0345967 UMLS_CUI:C0392400 UMLS_CUI:C1332338 advanced malignant mesothelioma asbestos-related malignant mesothelioma disease_ontology malignant tumor of Mesothelium Diffuse malignant Mesothelioma NCI2004_11_17:C8420 A cell type cancer that has_material_basis_in mesothelial tissue. url:http://cancergenome.nih.gov/cancersselected/Mesothelioma url:http://en.wikipedia.org/wiki/Mesothelioma url:http://www.cancer.gov/dictionary?CdrID=44323 url:http://www.merriam-webster.com/medlineplus/mesothelioma NCI2004_11_17:C4456 malignant tumor of Mesothelium peritoneal carcinoma A carcinoma that is located_in the inside of the abdomen. DOID:1791 NCI:C40022 UMLS_CUI:C1514428 disease_ontology primary peritoneal carcinoma A carcinoma that is located_in the inside of the abdomen. url:http://www.cancerhelp.org.uk/about-cancer/cancer-questions/primary-peritoneal-carcinoma pancreas lymphoma DOID:1792 Lymphoma of pancreas NCI:C5714 UMLS_CUI:C1335307 disease_ontology Lymphoma of pancreas NCI2004_11_17:C5714 pancreatic cancer An endocrine gland cancer located_in the pancreas. Ca body of pancreas Ca head of pancreas Ca tail of pancreas DOID:14356 DOID:1793 DOID:1797 DOID:3588 DOID:9859 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MSH:D010190 NCI:C3305 OMIM:606856 OMIM:613347 OMIM:613348 OMIM:614320 ORDO:1333 ORDO:217074 SNOMEDCT_US_2015_03_01:126859007 SNOMEDCT_US_2015_03_01:154476001 SNOMEDCT_US_2015_03_01:154477005 SNOMEDCT_US_2015_03_01:154478000 SNOMEDCT_US_2015_03_01:187791002 SNOMEDCT_US_2015_03_01:187792009 SNOMEDCT_US_2015_03_01:187796007 SNOMEDCT_US_2015_03_01:269553001 SNOMEDCT_US_2015_03_01:269554007 SNOMEDCT_US_2015_03_01:269555008 SNOMEDCT_US_2015_03_01:363419009 SNOMEDCT_US_2015_03_01:93715005 SNOMEDCT_US_2015_03_01:93823001 SNOMEDCT_US_2015_03_01:94082003 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463 Xref MGI. disease_ontology malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor MTH:NOCODE pancreatic neoplasm Ca head of pancreas SNOMEDCT_2005_07_31:154476001 Ca tail of pancreas SNOMEDCT_2005_07_31:154478000 An endocrine gland cancer located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic CSP2005:2014-4876 pancreas neoplasm NCI2004_11_17:C3305 pancreatic tumor Ca body of pancreas SNOMEDCT_2005_07_31:154477005 tumor of exocrine pancreas DOID:1794 DOID:1795 NCI:C4445 NCI:C7430 SNOMEDCT_US_2015_03_01:254604005 SNOMEDCT_US_2015_03_01:255088001 UMLS_CUI:C0345920 UMLS_CUI:C0346648 disease_ontology malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumor of exocrine pancreas (disorder) pancreatic Exocrine tumor tumor of exocrine pancreas (disorder) NCI2004_11_17:C4445 pancreatic Exocrine tumor SNOMEDCT_2005_07_31:254604005 tumor of exocrine pancreas (disorder) SNOMEDCT_2005_07_31:255088001 malignant tumor of exocrine pancreas (disorder) NCI2004_11_17:C7430 malignant neoplasm of the Exocrine pancreas pancreas sarcoma A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. DOID:1796 NCI:C5715 UMLS_CUI:C1096346 disease_ontology sarcoma of pancreas NCI2004_11_17:C5715 sarcoma of pancreas A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20pancreas&c=pc&ss= pancreatic endocrine carcinoma An islet cell tumor that has_material_basis_in epithelial cells. DOID:1798 ICD10CM:C25.4 ICD9CM:157.4 Islet cell carcinoma (morphologic abnormality) MSH:D018273 NCI:C3770 SNOMEDCT_US_2015_03_01:187794005 SNOMEDCT_US_2015_03_01:254612002 SNOMEDCT_US_2015_03_01:60346004 SNOMEDCT_US_2015_03_01:93843007 UMLS_CUI:C1328479 carcinoma of endocrine pancreas (disorder) disease_ontology malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma An islet cell tumor that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma Islet cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:60346004 SNOMEDCT_2005_07_31:254612002 carcinoma of endocrine pancreas (disorder) SNOMEDCT_2005_07_31:93843007 malignant neoplasm of islets of Langerhans NCI2004_11_17:C3770 pancreatic neuroendocrine carcinoma islet cell tumor A pancreatic cancer that is located_in the pancreatic islet cells. DOID:10165 DOID:1799 ICD10CM:C25.4 ICD10CM:D13.7 Islet cell neoplasm Islet cell tumor Islet cell tumour MSH:D007516 NCI:C27031 SNOMEDCT_US_2015_03_01:126864006 SNOMEDCT_US_2015_03_01:128878003 SNOMEDCT_US_2015_03_01:154609001 SNOMEDCT_US_2015_03_01:188855000 SNOMEDCT_US_2015_03_01:237596009 SNOMEDCT_US_2015_03_01:254611009 SNOMEDCT_US_2015_03_01:261713004 SNOMEDCT_US_2015_03_01:269636003 SNOMEDCT_US_2015_03_01:399528006 SNOMEDCT_US_2015_03_01:76345009 UMLS_CUI:C0242363 UMLS_CUI:C0496784 disease_ontology endocrine pancreas cancer malignant pancreatic Endocrine tumor malignant tumor of endocrine pancreas (disorder) pancreatic Endocrine neoplasm NCI2004_11_17:C3770 malignant pancreatic Endocrine tumor SNOMEDCT_2005_07_31:254611009 malignant tumor of endocrine pancreas (disorder) Islet cell tumour SNOMEDCT_2005_07_31:269636003 Islet cell tumor MTHICD9_2006:211.7 Islet cell neoplasm SNOMEDCT_2005_07_31:399528006 A pancreatic cancer that is located_in the pancreatic islet cells. url:http://en.wikipedia.org/wiki/Islets_of_Langerhans url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor NCI2004_11_17:C27031 pancreatic Endocrine neoplasm urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. DOID:18 DOID:579 NCI:C27599 Non-neoplastic urinary tract disease UMLS_CUI:C1335051 disease_ontology urinary tract disease NCI2004_11_17:C27599 Non-neoplastic urinary tract disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. url:http://en.wikipedia.org/wiki/Urinary_system ossifying fibroma A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. DOID:180 Fibro-osteoma (disorder) MSH:D018214 NCI:C8422 Ossifying fibroma (calcified structure) Ossifying fibroma (morphologic abnormality) SNOMEDCT_US_2015_03_01:189896007 SNOMEDCT_US_2015_03_01:25603007 SNOMEDCT_US_2015_03_01:302862001 SNOMEDCT_US_2015_03_01:302863006 SNOMEDCT_US_2015_03_01:80699009 UMLS_CUI:C0206640 disease_ontology peripheral ossifying fibroma Ossifying fibroma (morphologic abnormality) SNOMEDCT_2005_07_31:189896007 A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. url:http://en.wikipedia.org/wiki/Ossifying_fibroma Ossifying fibroma (calcified structure) SNOMEDCT_2005_07_31:25603007 Fibro-osteoma (disorder) SNOMEDCT_2005_07_31:302862001 neuroendocrine carcinoma A carcinoma that derives_from neuroendocrine cells. DOID:1800 MSH:D018278 NCI:C3773 SNOMEDCT_US_2015_03_01:253000007 SNOMEDCT_US_2015_03_01:55937004 UMLS_CUI:C0206695 disease_ontology A carcinoma that derives_from neuroendocrine cells. url:http://www.carcinomatype.com/what-is-neuroendocrine-carcinoma.html secondary malignant neoplasm to the pancreas DOID:1801 disease_ontology metastatic tumor to the pancreas secondary malignant neoplasm of pancreas (disorder) true NCI2004_11_17:C8543 metastatic tumor to the pancreas SNOMEDCT_2005_07_31:94459006 secondary malignant neoplasm of pancreas (disorder) mononeuritis (Mononeuritis of unspecified site NOS) or (hereditary or idiopathic peripheral neuropathy) DOID:1802 ICD9CM:355.9 MSH:D020422 SNOMEDCT_US_2015_03_01:193155002 SNOMEDCT_US_2015_03_01:267600005 SNOMEDCT_US_2015_03_01:32595002 UMLS_CUI:C0235880 disease_ontology (Mononeuritis of unspecified site NOS) or (hereditary or idiopathic peripheral neuropathy) SNOMEDCT_2005_07_31:193155002 neuritis DOID:1803 MSH:D009443 SNOMEDCT_US_2015_03_01:123254001 SNOMEDCT_US_2015_03_01:128192007 SNOMEDCT_US_2015_03_01:203116001 SNOMEDCT_US_2015_03_01:247378004 SNOMEDCT_US_2015_03_01:84299009 UMLS_CUI:C0027813 disease_ontology peripheral neuritis (disorder) SNOMEDCT_2005_07_31:128192007 peripheral neuritis (disorder) coxsackie pericarditis A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. DOID:1804 disease_ontology true A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ coxsackie carditis An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. DOID:1805 Enterovirus heart infection (disorder) disease_ontology true Enterovirus heart infection (disorder) SNOMEDCT_2005_07_31:46397005 An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v= url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ coxsackie endocarditis A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. DOID:1806 disease_ontology true A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false reflex sympathetic dystrophy DOID:1811 ICD10CM:G90.5 ICD10CM:M89.0 ICD9CM:337.2 ICD9CM:337.20 ICD9CM:337.21 MSH:D012019 NCI:C85042 OMIM mapping confirmed by DO. [SN]. OMIM:604335 SNOMEDCT_US_2015_03_01:128079007 SNOMEDCT_US_2015_03_01:156849009 SNOMEDCT_US_2015_03_01:15743005 SNOMEDCT_US_2015_03_01:192921009 SNOMEDCT_US_2015_03_01:203490000 SNOMEDCT_US_2015_03_01:203492008 SNOMEDCT_US_2015_03_01:2103002 SNOMEDCT_US_2015_03_01:393605009 SNOMEDCT_US_2015_03_01:403604006 SNOMEDCT_US_2015_03_01:50642008 UMLS_CUI:C0034931 disease_ontology calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. Calcinosis (disorder) DOID:182 MSH:D002114 Pathologically calcified structure SNOMEDCT_US_2015_03_01:18115005 SNOMEDCT_US_2015_03_01:190863003 SNOMEDCT_US_2015_03_01:237881004 SNOMEDCT_US_2015_03_01:6595006 UMLS_CUI:C0006663 disease_ontology pathologic calcification A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. url:http://en.wikipedia.org/wiki/Calcinosis Calcinosis (disorder) SNOMEDCT_2005_07_31:6595006 Pathologically calcified structure SNOMEDCT_2005_07_31:18115005 CSP2005:0531-6043 pathologic calcification CSP2005:0531-6510 pathologic calcification secondary lacrimal atrophy DOID:1822 ICD10CM:H04.15 ICD9CM:375.14 SNOMEDCT_US_2015_03_01:193979004 SNOMEDCT_US_2015_03_01:75068001 UMLS_CUI:C0339121 disease_ontology secondary lacrimal atrophy (disorder) SNOMEDCT_2005_07_31:75068001 secondary lacrimal atrophy (disorder) petit mal status DOID:1823 Epileptic absence status Epileptic twilight state Petit mal status (disorder) Petit mal status, epileptic disease_ontology true ICD9CM_2006:345.2 Petit mal status, epileptic Epileptic twilight state MTHICD9_2006:293.0 Epileptic absence status MTHICD9_2006:345.2 Petit mal status (disorder) SNOMEDCT_2005_07_31:7033004 status epilepticus (Grand mal status) or (status epilepticus) DOID:1824 MSH:D013226 NCI:C85079 SNOMEDCT_US_2015_03_01:13973009 SNOMEDCT_US_2015_03_01:155039002 SNOMEDCT_US_2015_03_01:192998006 SNOMEDCT_US_2015_03_01:193019007 SNOMEDCT_US_2015_03_01:194499008 SNOMEDCT_US_2015_03_01:230456007 UMLS_CUI:C0038220 disease_ontology (Grand mal status) or (status epilepticus) SNOMEDCT_2005_07_31:192998006 childhood absence epilepsy A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. DOID:1825 ICD10CM:G40.A MSH:D004832 NCI:C3023 NCI:C50436 SNOMEDCT_US_2015_03_01:140805008 SNOMEDCT_US_2015_03_01:155037000 SNOMEDCT_US_2015_03_01:163596002 SNOMEDCT_US_2015_03_01:16757004 SNOMEDCT_US_2015_03_01:192980007 SNOMEDCT_US_2015_03_01:192983009 SNOMEDCT_US_2015_03_01:230413002 SNOMEDCT_US_2015_03_01:50866000 SNOMEDCT_US_2015_03_01:79631006 UMLS_CUI:C0014553 absence seizure disease_ontology petit mal seizure pyknolepsy CSP2005:0485-7316 petit mal seizure SNOMEDCT_2005_07_31:140805008 absence seizure A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy epilepsy syndrome A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. DOID:1826 EFO:0000474 ICD10CM:G40.9 ICD10CM:G40.909 ICD9CM:345.9 MSH:D004827 NCI:C3020 SNOMEDCT_US_2015_03_01:128613002 SNOMEDCT_US_2015_03_01:155036009 SNOMEDCT_US_2015_03_01:155045005 SNOMEDCT_US_2015_03_01:193026007 SNOMEDCT_US_2015_03_01:246545002 SNOMEDCT_US_2015_03_01:267593008 SNOMEDCT_US_2015_03_01:267698007 SNOMEDCT_US_2015_03_01:271788002 SNOMEDCT_US_2015_03_01:313307000 SNOMEDCT_US_2015_03_01:84757009 UMLS_CUI:C0014544 disease_ontology epilepsy epileptic syndrome A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false url:http://www.merriam-webster.com/medlineplus/epilepsy idiopathic generalized epilepsy An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. DOID:1827 Generalised epilepsy MSH:D004829 NCI:C3021 OMIM:600669 OMIM:604827 OMIM:606972 OMIM:607628 OMIM:607682 OMIM:608762 OMIM:609750 OMIM:611136 OMIM:611934 OMIM:612899 OMIM:613060 OMIM:614847 SNOMEDCT_US_2015_03_01:155038005 SNOMEDCT_US_2015_03_01:155043003 SNOMEDCT_US_2015_03_01:192989008 SNOMEDCT_US_2015_03_01:192994008 SNOMEDCT_US_2015_03_01:19598007 UMLS_CUI:C0014548 Xref MGI. disease_ontology Generalised epilepsy SNOMEDCT_2005_07_31:192994008 An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Generalized_epilepsy urethral stricture DOID:1829 ICD9CM:598.8 UMLS_CUI:C0029752 disease_ontology Mild hyperemesis gravidarum DOID:13012 DOID:1831 DOID:1832 Mild hyperemesis gravidarum, antepartum Mild hyperemesis gravidarum, delivered disease_ontology true mononeuritis multiplex DOID:1835 ICD10CM:G58.7 ICD9CM:354.5 MSH:D020422 Mononeuritis multiplex Mononeuritis multiplex (disorder) NCI:C70938 SNOMEDCT_US_2015_03_01:30292005 UMLS_CUI:C0151295 disease_ontology Mononeuritis multiplex (disorder) SNOMEDCT_2005_07_31:30292005 ICD9CM_2006:354.5 Mononeuritis multiplex diabetic ketoacidosis DIABETES MELLITUS, KETOSIS-PRONE DOID:1837 ICD9CM:250.1 MSH:D016883 NCI:C50530 OMIM mapping confirmed by DO. [SN]. OMIM:612227 SNOMEDCT_US_2015_03_01:154671004 SNOMEDCT_US_2015_03_01:190328004 SNOMEDCT_US_2015_03_01:24927004 SNOMEDCT_US_2015_03_01:267467004 SNOMEDCT_US_2015_03_01:420422005 UMLS_CUI:C0011880 disease_ontology ketosis-prone diabetes mellitus Menkes disease COPPER TRANSPORT DISEASE DOID:1838 MSH:D007706 Menkes kinky-hair syndrome (disorder) NCI:C75486 OMIM mapping confirmed by DO. [SN]. OMIM:309400 SNOMEDCT_US_2015_03_01:59178007 UMLS_CUI:C0022716 disease_ontology steely hair syndrome CSP2005:1849-5365 steely hair syndrome Menkes kinky-hair syndrome (disorder) SNOMEDCT_2005_07_31:59178007 bone cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. CA - bone cancer CSP:2019-1041 DOID:184 DOID:3348 MSH:D001859 NCI:C9343 SNOMEDCT_US_2015_03_01:115239009 SNOMEDCT_US_2015_03_01:126537000 SNOMEDCT_US_2015_03_01:240201007 UMLS_CUI:C0005967 bone neoplasm bone tumor (morphologic abnormality) bone tumour disease_ontology malignant bone neoplasm malignant bone tumour malignant neoplasm of bone, NOS malignant osseous tumor neoplasm of bone (disorder) osseous tumor A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone url:http://www.cancer.gov/cancertopics/types/bone url:http://www.wrongdiagnosis.com/b/bone_cancer/intro.htm SNOMEDCT_2005_07_31:126537000 neoplasm of bone (disorder) SNOMEDCT_2005_07_31:93725000 malignant neoplasm of bone, NOS NCI2004_11_17:C4016 malignant osseous tumor SNOMEDCT_2005_07_31:240201007 bone tumour CA - bone cancer SNOMEDCT_2005_07_31:269466003 SNOMEDCT_2005_07_31:115239009 bone tumor (morphologic abnormality) CSP2005:2019-1041 bone neoplasm SNOMEDCT_2005_07_31:363371002 malignant bone tumour NCI2004_11_17:C9343 osseous tumor mononeuritis of upper limb DOID:1844 ICD9CM:354.9 Mononeuritis of upper limb (disorder) Mononeuritis of upper limb, unspecified Mononeuritis upper limb NOS (disorder) SNOMEDCT_US_2015_03_01:193143008 SNOMEDCT_US_2015_03_01:58850003 UMLS_CUI:C0154746 disease_ontology ICD9CM_2006:354.9 Mononeuritis of upper limb, unspecified Mononeuritis upper limb NOS (disorder) SNOMEDCT_2005_07_31:193143008 Mononeuritis of upper limb (disorder) SNOMEDCT_2005_07_31:58850003 Strongylida infectious disease A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. DOID:1845 disease_ontology true A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. url:http://en.wikipedia.org/wiki/Strongylida cannabis dependence A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. DOID:1849 ICD10CM:F12.2 ICD9CM:304.3 MSH:D002189 NCI:C34445 SNOMEDCT_US_2015_03_01:191835009 SNOMEDCT_US_2015_03_01:191836005 SNOMEDCT_US_2015_03_01:268766005 SNOMEDCT_US_2015_03_01:85005007 UMLS_CUI:C0006870 disease_ontology A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Cannabis_dependence intrahepatic cholestasis DOID:1852 MSH:D002780 NCI:C84400 OMIM:147480 OMIM:211600 OMIM:243300 OMIM:601847 OMIM:602347 OMIM:605479 OMIM:614972 OMIM:615878 ORDO:172 ORDO:65682 ORDO:69665 SNOMEDCT_US_2015_03_01:4637005 UMLS_CUI:C0008372 Xref MGI. disease_ontology intrahepatic cholestasis of pregnancy cherubism DOID:1856 ICD10CM:M27.8 MSH:D002636 NCI:C84630 OMIM mapping confirmed by DO. [SN]. OMIM:118400 SNOMEDCT_US_2015_03_01:53432004 SNOMEDCT_US_2015_03_01:76098004 UMLS_CUI:C0008029 disease_ontology McCune Albright syndrome An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. DOID:11345 DOID:1858 ICD10CM:Q78.1 ICD9CM:756.54 MSH:D005357 MSH:D005359 NCI:C34610 OMIM mapping confirmed by DO. [SN]. OMIM:174800 SNOMEDCT_US_2015_03_01:10623005 SNOMEDCT_US_2015_03_01:205508003 SNOMEDCT_US_2015_03_01:36517007 UMLS_CUI:C0016063 UMLS_CUI:C0016065 disease_ontology fibrous Dysplasia of bone fibrous dysplasia of bone (disorder) osteitis fibrosa disseminata polyostotic fibrous dysplasia An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. url:http://emedicine.medscape.com/article/923026-overview url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome url:http://www.nichd.nih.gov/health/topics/mccune_albright_syndrome.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/001217.htm url:http://www.umm.edu/ency/article/001217.htm NCI2004_11_17:C34609 fibrous Dysplasia of bone SNOMEDCT_2005_07_31:10623005 fibrous dysplasia of bone (disorder) jaw cancer A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. DOID:1862 MSH:D007573 SNOMEDCT_US_2015_03_01:126634001 UMLS_CUI:C0022364 disease_ontology jaw neoplasm neoplasm of jaw (disorder) SNOMEDCT_2005_07_31:126634001 neoplasm of jaw (disorder) A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. url:http://www.buzzle.com/articles/jaw-cancer-symptoms.html skull cancer DOID:1863 MSH:D012888 NCI:C3375 SNOMEDCT_US_2015_03_01:126538005 UMLS_CUI:C0037305 disease_ontology giant cell reparative granuloma DOID:1866 ICD10CM:M27.1 ICD9CM:526.3 MSH:D006101 SNOMEDCT_US_2015_03_01:15350006 UMLS_CUI:C0162375 central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw (disorder) disease_ontology ICD9CM_2006:526.3 central giant cell (reparative) granuloma SNOMEDCT_2005_07_31:15350006 central giant cell reparative granuloma of jaw (disorder) MTHICD9_2006:526.3 central giant cell granuloma chronic rheumatic pericarditis DOID:1869 ICD10CM:I09.2 ICD9CM:393 SNOMEDCT_US_2015_03_01:155287003 SNOMEDCT_US_2015_03_01:194719006 SNOMEDCT_US_2015_03_01:194723003 SNOMEDCT_US_2015_03_01:78069008 UMLS_CUI:C0155561 chronic rheumatic pericarditis (disorder) chronic rheumatic pericarditis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:78069008 chronic rheumatic pericarditis (disorder) SNOMEDCT_2005_07_31:194723003 chronic rheumatic pericarditis NOS (disorder) abortion complicated by metabolic disorder DOID:1873 disease_ontology true impotence DOID:1875 EFO:0004234 Sexual impotence (finding) disease_ontology erectile dysfunction SNOMEDCT_2005_07_31:23781003 Sexual impotence (finding) sexual dysfunction DOID:1876 ICD10CM:F52.9 ICD10CM:R37 NCI:C3347 SNOMEDCT_US_2015_03_01:225723003 SNOMEDCT_US_2015_03_01:231532002 SNOMEDCT_US_2015_03_01:39894007 SNOMEDCT_US_2015_03_01:56925008 SNOMEDCT_US_2015_03_01:65655009 UMLS_CUI:C0549622 abnormal sexual function (finding) disease_ontology SNOMEDCT_2005_07_31:56925008 abnormal sexual function (finding) atrial heart septal defect DOID:1882 ICD10CM:Q21.1 MSH:D006344 NCI:C84473 OMIM:108800 OMIM:108900 OMIM:607941 OMIM:611363 OMIM:612794 OMIM:613087 OMIM:614089 OMIM:614433 OMIM:614475 ORDO:1478 SNOMEDCT_US_2015_03_01:156915002 SNOMEDCT_US_2015_03_01:204316004 SNOMEDCT_US_2015_03_01:253366007 SNOMEDCT_US_2015_03_01:253368008 SNOMEDCT_US_2015_03_01:268178001 SNOMEDCT_US_2015_03_01:405752007 SNOMEDCT_US_2015_03_01:69524004 SNOMEDCT_US_2015_03_01:70142008 UMLS_CUI:C0018817 Xref MGI. atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect disease_ontology interatrial septal defect interauricular septal defect CSP2005:0725-0467 atrioseptal defect hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12430 DOID:12432 DOID:1883 DOID:2049 EFO:0003047 ICD10CM:B19.2 ICD10CM:B19.20 ICD9CM:070.7 MSH:D006526 NANBH NCI:C3098 SNOMEDCT_US_2015_03_01:123324009 SNOMEDCT_US_2015_03_01:154349000 SNOMEDCT_US_2015_03_01:186634008 SNOMEDCT_US_2015_03_01:186643004 SNOMEDCT_US_2015_03_01:50711007 UMLS_CUI:C0019196 Viral hepatitis C chronic hepatitis C disease_ontology hepatitis C infection hepatitis nonA nonB NANBH NCI2004_11_17:C3098 CSP2005:4000-0219 hepatitis nonA nonB A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HCV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf viral hepatitis A hepatitis that involves viral infection causing inflammation of the liver. DOID:12548 DOID:1331 DOID:1884 DOID:1885 MSH:D006524 UMLS_CUI:C0019194 Unspecified viral hepatitis with hepatic coma Viral hepatitis with hepatic coma (disorder) animal viral hepatitis disease_ontology human viral hepatitis viral hepatitis with hepatic coma ICD9CM_2006:070.6 Unspecified viral hepatitis with hepatic coma A hepatitis that involves viral infection causing inflammation of the liver. url:http://www.cdc.gov/HEPATITIS/ SNOMEDCT_2005_07_31:40946000 Viral hepatitis with hepatic coma (disorder) CSP2005:1754-7196 animal viral hepatitis Flaviviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. DOID:1886 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Flaviviridae optic nerve disease A cranial nerve disease that is located_in the optic nerve. DOID:1891 MSH:D009901 NCI:C79698 SNOMEDCT_US_2015_03_01:194037001 SNOMEDCT_US_2015_03_01:267741008 SNOMEDCT_US_2015_03_01:312964007 SNOMEDCT_US_2015_03_01:77157004 SNOMEDCT_US_2015_03_01:82108004 UMLS_CUI:C0029132 disease_ontology disorder of optic nerve (disorder) disorder of the second nerve optic nerve disorder optic neuropathy (disorder) SNOMEDCT_2005_07_31:194037001 disorder of the second nerve SNOMEDCT_2005_07_31:312964007 optic neuropathy (disorder) CSP2005:2042-6601 optic nerve disorder SNOMEDCT_2005_07_31:267741008 optic nerve disorder A cranial nerve disease that is located_in the optic nerve. url:http://www.academy.org.uk/lectures/barnard3.htm url:http://www.nature.com/eye/journal/v18/n11/full/6701575a.html SNOMEDCT_2005_07_31:77157004 disorder of optic nerve (disorder) eczematous dermatitis of eyelid DOID:1893 Eczematous dermatitis of eyelid (disorder) ICD10CM:H01.13 ICD9CM:373.31 SNOMEDCT_US_2015_03_01:36259009 UMLS_CUI:C0155177 disease_ontology Eczematous dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:36259009 noninfectious dermatoses of eyelid DOID:1894 ICD10CM:H01.1 ICD9CM:373.3 Non-infected eyelid dermatoses NOS (disorder) Noninfectious dermatosis of eyelid (disorder) SNOMEDCT_US_2015_03_01:111524003 SNOMEDCT_US_2015_03_01:193919009 UMLS_CUI:C0155176 disease_ontology Noninfectious dermatosis of eyelid (disorder) SNOMEDCT_2005_07_31:111524003 Non-infected eyelid dermatoses NOS (disorder) SNOMEDCT_2005_07_31:193919009 allergic contact dermatitis of eyelid Allergic contact dermatitis of eyelid (disorder) Contact and allergic dermatitis of eyelid DOID:1895 ICD9CM:373.32 SNOMEDCT_US_2015_03_01:402249007 UMLS_CUI:C0155178 disease_ontology Allergic contact dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:402249007 Contact and allergic dermatitis of eyelid ICD9CM_2006:373.32 sigmoid neoplasm DOID:1896 MSH:D012811 SNOMEDCT_US_2015_03_01:126845000 SNOMEDCT_US_2015_03_01:254581007 UMLS_CUI:C0037073 disease_ontology neoplasm of sigmoid colon (disorder) tumor of sigmoid colon (disorder) SNOMEDCT_2005_07_31:126845000 neoplasm of sigmoid colon (disorder) SNOMEDCT_2005_07_31:254581007 tumor of sigmoid colon (disorder) sigmoid disease DOID:1897 MSH:D012810 UMLS_CUI:C0037072 disease_ontology vagina sarcoma DOID:1901 NCI:C7737 UMLS_CUI:C0238519 disease_ontology sarcoma of the vagina NCI2004_11_17:C7737 sarcoma of the vagina malignant skin fibrous histiocytoma DOID:1906 NCI:C5576 SNOMEDCT_US_2015_03_01:404014008 UMLS_CUI:C1275254 disease_ontology malignant fibrous histiocytoma of skin (disorder) vaginal melanoma NCI2004_11_17:C27394 vaginal melanoma NCI2004_11_17:C5576 vaginal melanoma SNOMEDCT_2005_07_31:404014008 malignant fibrous histiocytoma of skin (disorder) malignant fibroxanthoma DOID:1907 Fibroxanthosarcoma Fibroxanthosarcoma (morphologic abnormality) MFH MSH:D051677 NCI:C4247 SNOMEDCT_US_2015_03_01:189772005 SNOMEDCT_US_2015_03_01:253040001 SNOMEDCT_US_2015_03_01:34360000 SNOMEDCT_US_2015_03_01:443439001 UMLS_CUI:C0334463 disease_ontology fibrous histiocytoma, malignant (morphologic abnormality) Fibroxanthosarcoma SNOMEDCT_2005_07_31:189772005 Fibroxanthosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:253040001 MFH NCI2004_11_17:C4247 SNOMEDCT_2005_07_31:34360000 fibrous histiocytoma, malignant (morphologic abnormality) cutaneous fibrohistiocytic neoplasm DOID:1908 disease_ontology true melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye. DOID:1909 EFO:0000756 KEGG:05218 MSH:D008545 NCI:C3224 Naevocarcinoma OMIM:155600 SNOMEDCT_US_2015_03_01:154501005 SNOMEDCT_US_2015_03_01:189749008 SNOMEDCT_US_2015_03_01:2092003 SNOMEDCT_US_2015_03_01:269503007 SNOMEDCT_US_2015_03_01:269577007 SNOMEDCT_US_2015_03_01:372244006 UMLS_CUI:C0025202 disease_ontology malignant melanoma Naevocarcinoma SNOMEDCT_2005_07_31:189749008 A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye. PMID:22123420 url:http://en.wikipedia.org/wiki/Melanoma SNOMEDCT_2005_07_31:269577007 malignant melanoma vaginal yolk sac tumor DOID:1910 NCI:C6379 UMLS_CUI:C1336945 disease_ontology vaginal Yolk Sac neoplasm vaginal endodermal sinus neoplasm NCI2004_11_17:C6379 vaginal Yolk Sac neoplasm endodermal sinus tumor A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. DOID:1911 Hepatoid yolk sac tumour MSH:D018240 NCI:C3011 SNOMEDCT_US_2015_03_01:404081005 SNOMEDCT_US_2015_03_01:74409009 UMLS_CUI:C0014145 Yolk Sac neoplasm Yolk sac tumor (disorder) disease_ontology infantile embryonal carcinoma Hepatoid yolk sac tumour SNOMEDCT_2005_07_31:74409009 NCI2004_11_17:C3011 Yolk Sac neoplasm A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor url:http://en.wikipedia.org/wiki/Germ_cell_tumor url:http://www.cincinnatichildrens.org/health/y/yolk-sac/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 SNOMEDCT_2005_07_31:404081005 Yolk sac tumor (disorder) metastasis to vagina DOID:1912 disease_ontology secondary malignant neoplasm of vagina (disorder) secondary tumor to the vagina true NCI2004_11_17:C6333 secondary tumor to the vagina SNOMEDCT_2005_07_31:94668004 secondary malignant neoplasm of vagina (disorder) alternating exotropia with A pattern Alternating exotropia with A pattern (disorder) DOID:1913 disease_ontology true Alternating exotropia with A pattern (disorder) SNOMEDCT_2005_07_31:31254003 Lesch-Nyhan syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency DOID:1919 HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous] Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) ICD10CM:E79.1 Lesch - Nyhan syndrome Lesch-Nyhan syndrome (disorder) MSH:D007926 NCI:C61255 OMIM mapping confirmed by DO. [SN]. OMIM:300322 SNOMEDCT_US_2015_03_01:10406007 SNOMEDCT_US_2015_03_01:124275001 SNOMEDCT_US_2015_03_01:190917005 SNOMEDCT_US_2015_03_01:190918000 SNOMEDCT_US_2015_03_01:190921003 SNOMEDCT_US_2015_03_01:267451005 SNOMEDCT_US_2015_03_01:68655008 SNOMEDCT_US_2015_03_01:90924007 UMLS_CUI:C0023374 X-linked hyperuricemia (disorder) [Ambiguous] deficiency of IMP pyrophosphorylase disease_ontology hypoxanthine guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome (disorder) SNOMEDCT_2005_07_31:10406007 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous] SNOMEDCT_2005_07_31:90924007 CSP2005:1849-8105 hypoxanthine guanine phosphoribosyltransferase deficiency HG-PRT deficiency MTHICD9_2006:277.2 Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) SNOMEDCT_2005_07_31:190918000 Lesch - Nyhan syndrome SNOMEDCT_2005_07_31:190917005 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) SNOMEDCT_2005_07_31:267451005 SNOMEDCT_2005_07_31:124275001 deficiency of IMP pyrophosphorylase SNOMEDCT_2005_07_31:68655008 X-linked hyperuricemia (disorder) [Ambiguous] Complete hypoxanthine-guanine phosphoribosyltransferase deficiency SNOMEDCT_2005_07_31:190921003 sex cord-gonadal stromal tumor A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. DOID:12293 DOID:192 MSH:D018312 NCI:C3794 NCI:C39948 SNOMEDCT_US_2015_03_01:115221000 SNOMEDCT_US_2015_03_01:134323003 SNOMEDCT_US_2015_03_01:189724009 SNOMEDCT_US_2015_03_01:189741006 SNOMEDCT_US_2015_03_01:253028001 SNOMEDCT_US_2015_03_01:71440001 Sex Cord-Stromal neoplasm Sex Cord-Stromal tumor Sex cord stromal tumour Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality) Specialized gonadal neoplasm (morphologic abnormality) Specialized gonadal neoplasm NOS (morphologic abnormality) Specialized gonadal tumor (qualifier value) UMLS_CUI:C0206724 UMLS_CUI:C1515289 disease_ontology malignant testicular sex cord-stromal tumor SNOMEDCT_2005_07_31:189741006 Specialized gonadal neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189724009 Specialized gonadal neoplasm (morphologic abnormality) MTH:NOCODE Sex Cord-Stromal tumor SNOMEDCT_2005_07_31:134323003 Specialized gonadal tumor (qualifier value) SNOMEDCT_2005_07_31:253028001 Sex cord stromal tumour SNOMEDCT_2005_07_31:71440001 Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:115221000 Specialized gonadal neoplasm (morphologic abnormality) NCI2004_11_17:C3794 Sex Cord-Stromal neoplasm A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour hyperuricemia (Blood urate raized) or (hyperuricemia) An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. DOID:1920 MSH:D033461 NCI:C3961 SNOMEDCT_US_2015_03_01:144021008 SNOMEDCT_US_2015_03_01:166733000 SNOMEDCT_US_2015_03_01:237857006 SNOMEDCT_US_2015_03_01:271198001 SNOMEDCT_US_2015_03_01:35885006 UMLS_CUI:C0740394 disease_ontology uricacidemia CSP2005:1849-8097 uricacidemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. url:http://en.wikipedia.org/wiki/Hyperuricemia (Blood urate raized) or (hyperuricemia) SNOMEDCT_2005_07_31:166733000 Klinefelter's syndrome DOID:1921 Hypogonadotropic Hypogonadism ICD10CM:Q98.0 ICD10CM:Q98.4 ICD9CM:758.7 Klinefelter syndrome MSH:D007713 NCI:C34752 No OMIM mapping, confirmed by DO. [LS]. SNOMEDCT_US_2015_03_01:157021007 SNOMEDCT_US_2015_03_01:205696000 SNOMEDCT_US_2015_03_01:205701007 SNOMEDCT_US_2015_03_01:205712007 SNOMEDCT_US_2015_03_01:22053006 SNOMEDCT_US_2015_03_01:268357008 SNOMEDCT_US_2015_03_01:405769009 SNOMEDCT_US_2015_03_01:405770005 UMLS_CUI:C0022735 XXY syndrome XXY trisomy disease_ontology MTHICD9_2006:758.7 XXY syndrome CSP2005:1254-8437 XXY trisomy Hypogonadotropic Hypogonadism NCI2004_11_17:C34752 endocrine syndrome DOID:1922 disease_ontology true sex differentiation disease DOID:1923 MSH:D012734 UMLS_CUI:C0036875 disease_ontology disorder of sexual differentiation (disorder) sex differentiation disorder CSP2005:2586-8784 sex differentiation disorder SNOMEDCT_2005_07_31:39179006 disorder of sexual differentiation (disorder) hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads. DOID:1924 MSH:D007006 NCI:C9227 OMIM:146110 SNOMEDCT_US_2015_03_01:48130008 UMLS_CUI:C0020619 disease_ontology A gonadal disease that is characterized by diminished functional activity of the gonads. url:http://en.wikipedia.org/wiki/Hypogonadism Coffin-Siris syndrome A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. DOID:1925 Dwarfism-Onychodysplasia Fifth Digit Syndrome MSH:C536436 NCI:C35321 OMIM mapping confirmed by DO. [SN]. OMIM:135900 SNOMEDCT_US_2015_03_01:10007009 Short Stature-Onychodysplasia. UMLS_CUI:C0265338 disease_ontology A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. url:http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome url:http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 Gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. DOID:1926 Gaucher disease ICD10CM:E75.22 MSH:D005776 NCI:C61268 OMIM:230800 OMIM:230900 OMIM:231000 OMIM:608013 OMIM:610539 ORDO:355 SNOMEDCT_US_2015_03_01:180485001 SNOMEDCT_US_2015_03_01:190794006 SNOMEDCT_US_2015_03_01:2859005 SNOMEDCT_US_2015_03_01:62201009 UMLS_CUI:C0017205 Xref MGI. OMIM mapping confirmed by DO. [SN]. acid beta-glucosidase deficiency disease_ontology glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) CSP2005:1849-8920 lipoid histiocytosis (kerasin type) A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. url:http://en.wikipedia.org/wiki/Gaucher%27s_disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract sphingolipidosis DOID:1927 ICD10CM:E75.3 MSH:D013106 SNOMEDCT_US_2015_03_01:238028008 SNOMEDCT_US_2015_03_01:58459009 Sphingolipidosis (disorder) Sphingolipidosis, NOS UMLS_CUI:C0037899 disease_ontology sphingolipidoses SNOMEDCT_2005_07_31:238028008 Sphingolipidosis (disorder) SNOMEDCT_2005_07_31:58459009 Sphingolipidosis, NOS Williams-Beuren syndrome DOID:1928 Fanconi Schlesinger syndrome MSH:D018980 NCI:C85232 OMIM mapping confirmed by DO. [LS]. OMIM:194050 SNOMEDCT_US_2015_03_01:63247009 UMLS_CUI:C0175702 disease_ontology CSP2005:4006-0100 Fanconi Schlesinger syndrome supravalvular aortic stenosis DOID:1929 ICD10CM:Q25.3 MSH:D021921 NCI:C85176 OMIM:185500 OMIM:194050 SNOMEDCT_US_2015_03_01:204436002 SNOMEDCT_US_2015_03_01:268185002 Supra-valvular aortic stenosis Supravalvar aortic stenosis (disorder) UMLS_CUI:C0003499 disease_ontology SNOMEDCT_2005_07_31:268185002 Supravalvar aortic stenosis (disorder) SNOMEDCT_2005_07_31:204436002 Supra-valvular aortic stenosis MTHICD9_2006:747.22 Supra-valvular aortic stenosis reproductive organ cancer An organ system cancer that is manifested in the reproductive organs. DOID:1900 DOID:193 NCI:C3674 Reproductive tumor UMLS_CUI:C0178830 cancer of reproductive system disease_ontology malignant reproductive system neoplasm NCI2004_11_17:C3674 Reproductive tumor An organ system cancer that is manifested in the reproductive organs. url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers Laurence-Moon syndrome DOID:1930 Laurence-Moon-Biedl syndrome MSH:D007849 NCI:C34760 OMIM mapping confirmed by DO. [SN]. OMIM:245800 SNOMEDCT_US_2015_03_01:232059000 SNOMEDCT_US_2015_03_01:232060005 SNOMEDCT_US_2015_03_01:5619004 UMLS_CUI:C0023138 disease_ontology Laurence-Moon-Biedl syndrome MTHICD9_2006:759.89 hypothalamic disease DOID:1931 Hypothalamus disorder MSH:D007027 SNOMEDCT_US_2015_03_01:190463005 SNOMEDCT_US_2015_03_01:399100005 SNOMEDCT_US_2015_03_01:88108008 UMLS_CUI:C0020655 disease_ontology disorder of hypothalamus (disorder) Hypothalamus disorder SNOMEDCT_2005_07_31:190463005 SNOMEDCT_2005_07_31:399100005 disorder of hypothalamus (disorder) Hypothalamus disorder SNOMEDCT_2005_07_31:88108008 Angelman syndrome DOID:1932 ICD10CM:Q93.5 MSH:D017204 NCI:C75462 OMIM mapping confirmed by DO. [SN]. OMIM:105830 SNOMEDCT_US_2015_03_01:76880004 UMLS_CUI:C0162635 disease_ontology happy puppet syndrome puppetlike syndrome CSP2005:4008-0043 puppetlike syndrome Rubinstein-Taybi syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. Broad Thumb-Hallux syndrome DOID:1933 ICD10CM:Q87.2 MSH:D012415 NCI:C75466 OMIM:180849 OMIM:610543 OMIM:613684 ORDO:783 Rubinstein syndrome SNOMEDCT_US_2015_03_01:157032007 SNOMEDCT_US_2015_03_01:45582004 UMLS_CUI:C0035934 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology proximal chromosome 16p13.3 deletion syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. url:ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome dysostosis A bone development disease that results_in defective ossification of located_in bone. DOID:1934 MSH:D004413 NCI:C34560 SNOMEDCT_US_2015_03_01:109420003 UMLS_CUI:C0013393 disease_ontology A bone development disease that results_in defective ossification of located_in bone. url:http://en.wikipedia.org/wiki/Dysostosis url:http://medical-dictionary.thefreedictionary.com/dysostosis Bardet-Biedl syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. DOID:1935 ICD10CM:Q87.89 MSH:D020788 OMIM mapping confirmed by DO. [SN]. OMIM:209900 OMIM:600151 OMIM:605231 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615985 OMIM:615986 OMIM:615987 OMIM:615988 OMIM:615989 OMIM:615990 OMIM:615991 OMIM:615992 OMIM:615993 OMIM:615994 OMIM:615995 OMIM:615996 ORDO:110 SNOMEDCT_US_2015_03_01:5619004 UMLS_CUI:C0752166 disease_ontology An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. url:http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome url:http://en.wikipedia.org/wiki/Ciliopathy url:http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome atherosclerosis DOID:1936 EFO:0003914 ICD10CM:I25.1 ICD10CM:I70 ICD9CM:440 MSH:D050197 NCI:C35768 NCI:C35771 SNOMEDCT_US_2015_03_01:155382007 SNOMEDCT_US_2015_03_01:155414001 SNOMEDCT_US_2015_03_01:194848007 SNOMEDCT_US_2015_03_01:195251000 SNOMEDCT_US_2015_03_01:266318005 SNOMEDCT_US_2015_03_01:38716007 UMLS_CUI:C0004153 disease_ontology primary Bacillaceae infectious disease DOID:1938 disease_ontology true gonadal tissue neoplasm DOID:194 disease_ontology true intermittent alternating exotropia Alternating intermittent exotropia (disorder) DOID:1941 Intermittent alternating exotropia (disorder) Intermittent exotropia, alternating disease_ontology true Alternating intermittent exotropia (disorder) SNOMEDCT_2005_07_31:59320006 Intermittent alternating exotropia (disorder) SNOMEDCT_2005_07_31:194104000 ICD9CM_2006:378.24 Intermittent exotropia, alternating intermittent squint DOID:1942 ICD10CM:H50.3 ICD10CM:H50.30 ICD9CM:378.2 ICD9CM:378.20 Intermittent heterotropia Intermittent heterotropia NOS (disorder) Intermittent heterotropia, unspecified Intermittent squint (disorder) SNOMEDCT_US_2015_03_01:194105004 SNOMEDCT_US_2015_03_01:246734002 SNOMEDCT_US_2015_03_01:74025007 UMLS_CUI:C0152210 disease_ontology ICD9CM_2006:378.20 Intermittent heterotropia, unspecified Intermittent squint (disorder) SNOMEDCT_2005_07_31:74025007 Intermittent heterotropia NOS (disorder) SNOMEDCT_2005_07_31:194105004 ICD9CM_2006:378.2 Intermittent heterotropia telogen effluvium DOID:1943 ICD10CM:L65.0 ICD9CM:704.02 NCI:C112200 SNOMEDCT_US_2015_03_01:201147004 SNOMEDCT_US_2015_03_01:39479004 Telogen effluvium (disorder) UMLS_CUI:C0263518 disease_ontology SNOMEDCT_2005_07_31:39479004 Telogen effluvium (disorder) trichomoniasis A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. DOID:10996 DOID:1947 ICD10CM:A59 ICD10CM:A59.9 ICD9CM:131 ICD9CM:131.9 MSH:D014245 NCI:C35720 SNOMEDCT_US_2015_03_01:105648001 SNOMEDCT_US_2015_03_01:187206001 SNOMEDCT_US_2015_03_01:187364002 SNOMEDCT_US_2015_03_01:56335008 UMLS_CUI:C0040921 disease_ontology trichomonas infection A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. url:http://en.wikipedia.org/wiki/Trichomoniasis cholecystitis A cholangitis that is characterized_by an inflammation that is located_in the gallbladder. DOID:1948 DOID:1949 DOID:2829 DOID:9438 ICD10CM:K81 ICD10CM:K81.9 ICD9CM:575.10 MSH:D002764 NCI:C34465 OMIM mapping confirmed by DO. [SN]. OMIM:600803 SNOMEDCT_US_2015_03_01:197414008 SNOMEDCT_US_2015_03_01:76581006 UMLS_CUI:C0008325 acute and chronic cholecystitis acute and chronic cholecystitis (disorder) acute cholecystitis acute cholecystitis (disorder) acute cholecystitis NOS (disorder) acute cholecystitis unspecified (disorder) acute on chronic cholecystitis chronic cholecystitis chronic cholecystitis (disorder) disease_ontology SNOMEDCT_2005_07_31:197409009 acute cholecystitis unspecified (disorder) ICD9CM_2006:575.12 acute and chronic cholecystitis ICD9CM_2006:575.0 NCI2004_11_17:C35152 SNOMEDCT_2005_07_31:155827009 SNOMEDCT_2005_07_31:197408001 acute cholecystitis SNOMEDCT_2005_07_31:396335001 acute and chronic cholecystitis (disorder) A cholangitis that is characterized_by an inflammation that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Cholecystitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm SNOMEDCT_2005_07_31:20824003 chronic cholecystitis (disorder) SNOMEDCT_2005_07_31:197411000 acute cholecystitis NOS (disorder) SNOMEDCT_2005_07_31:65275009 acute cholecystitis (disorder) ICD9CM_2006:575.11 SNOMEDCT_2005_07_31:155828004 chronic cholecystitis reproductive endocrine cancer DOID:195 disease_ontology true benign hypertensive heart disease DOID:1954 benign hypertensive heart disease (disorder) benign hypertensive heart disease NOS (disorder) disease_ontology true SNOMEDCT_2005_07_31:36221001 benign hypertensive heart disease (disorder) SNOMEDCT_2005_07_31:194768006 benign hypertensive heart disease NOS (disorder) acinar cell tumor DOID:196 acinar cell neoplasm acinar cell neoplasm (morphologic abnormality) acinar cell neoplasm NOS (morphologic abnormality) acinar cell tumor (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:115219005 acinar cell neoplasm (morphologic abnormality) NCI2004_11_17:C4197 acinar cell neoplasm SNOMEDCT_2005_07_31:189719006 acinar cell neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189718003 acinar cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:189717008 acinar cell neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:83472001 acinar cell tumor (morphologic abnormality) fallopian tube disease DOID:1962 MSH:D005184 NCI:C26771 SNOMEDCT_US_2015_03_01:128134005 UMLS_CUI:C0015556 disease_ontology fallopian tube disorder NCI2004_11_17:C26771 fallopian tube disorder fallopian tube carcinoma A fallopian tube cancer that is located_in the fallopian tube. DOID:1963 MSH:D005185 NCI:C3867 SNOMEDCT_US_2015_03_01:154529008 SNOMEDCT_US_2015_03_01:269602009 SNOMEDCT_US_2015_03_01:276870001 SNOMEDCT_US_2015_03_01:93794008 UMLS_CUI:C0238122 cancer of the fallopian tube carcinoma of fallopian tube (disorder) disease_ontology fallopian tube Ca SNOMEDCT_2005_07_31:269602009 fallopian tube Ca A fallopian tube cancer that is located_in the fallopian tube. url:http://www.cancer.gov/dictionary/?CdrID=45687 SNOMEDCT_2005_07_31:154529008 fallopian tube Ca NCI2004_11_17:C3867 cancer of the fallopian tube SNOMEDCT_2005_07_31:276870001 carcinoma of fallopian tube (disorder) SNOMEDCT_2005_07_31:93794008 fallopian tube Ca fallopian tube cancer A female reproductive organ cancer that is located_in fallopian tube. DOID:1961 DOID:1964 ICD10CM:C57.0 ICD9CM:183.2 MSH:D005185 NCI:C3032 NCI:C7480 SNOMEDCT_US_2015_03_01:126916003 SNOMEDCT_US_2015_03_01:363444001 SNOMEDCT_US_2015_03_01:93794008 UMLS_CUI:C0015558 UMLS_CUI:C0153579 disease_ontology fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube (disorder) malignant tumour of fallopian tube neoplasm of fallopian tube (disorder) tumor of the fallopian tube tumor, fallopian tube, malignant A female reproductive organ cancer that is located_in fallopian tube. url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer NCI2004_11_17:C7480 tumor, fallopian tube, malignant MTHICD9_2006:183.2 malignant neoplasm of uterine tube NCI2004_11_17:C3032 tumor of the fallopian tube SNOMEDCT_2005_07_31:93794008 malignant tumour of fallopian tube SNOMEDCT_2005_07_31:126916003 neoplasm of fallopian tube (disorder) SNOMEDCT_2005_07_31:363444001 malignant tumor of fallopian tube (disorder) fallopian tube leiomyosarcoma DOID:1965 NCI:C40128 UMLS_CUI:C1517116 disease_ontology fallopian tube soft tissue neoplasm DOID:1966 disease_ontology true leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. DOID:1967 Leiomyosarcomas MSH:D007890 NCI:C3158 SNOMEDCT_US_2015_03_01:189790006 SNOMEDCT_US_2015_03_01:443719001 SNOMEDCT_US_2015_03_01:51549004 UMLS_CUI:C0023269 disease_ontology Leiomyosarcomas NCI2004_11_17:C3158 A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. url:http://www.cancer.gov/dictionary/?CdrID=46027 cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. CSP:0723-4729 DOID:1968 DOID:1969 ICD10CM:G80 ICD10CM:G80.9 ICD9CM:343.8 MSH:D002547 NCI:C34460 SNOMEDCT_US_2015_03_01:1178005 SNOMEDCT_US_2015_03_01:128188000 SNOMEDCT_US_2015_03_01:155024003 SNOMEDCT_US_2015_03_01:267696006 SNOMEDCT_US_2015_03_01:270488006 UMLS_CUI:C0007789 UMLS_CUI:C0029806 disease_ontology infantile cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. url:http://en.wikipedia.org/wiki/Cerebral_palsy url:http://www.brainandspinalcord.org/cerebral-palsy/index.html url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/ glandular cell epithelial neoplasm DOID:197 disease_ontology glandular cell Epithelium neoplasm true NCI2004_11_17:C7132 glandular cell Epithelium neoplasm fallopian tube carcinosarcoma A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. DOID:1970 NCI:C40124 UMLS_CUI:C1517117 disease_ontology fallopian tube malignant mixed Mullerian tumor fallopian tube malignant mixed mesodermal (mullerian) tumor A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. url:http://en.wikipedia.org/wiki/Carcinosarcoma fallopian tube adenosarcoma DOID:1973 NCI:C40125 UMLS_CUI:C1517121 disease_ontology fallopian tube mullerian adenosarcoma adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. Adenosarcoma (morphologic abnormality) DOID:1974 MSH:D018195 NCI:C9474 SNOMEDCT_US_2015_03_01:189804002 SNOMEDCT_US_2015_03_01:31470003 UMLS_CUI:C0001442 disease_ontology mullerian Adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:http://en.wikipedia.org/wiki/Adenosarcoma url:http://medical-dictionary.thefreedictionary.com/adenosarcoma Adenosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:31470003 NCI2004_11_17:C9474 mullerian Adenosarcoma thymus lipoma DOID:1975 NCI:C6452 SNOMEDCT_US_2015_03_01:447137005 Thymolipoma UMLS_CUI:C1336744 disease_ontology NCI2004_11_17:C6452 Thymolipoma lipoma of the mediastinum DOID:1977 Lipoma of mediastinum disease_ontology true Lipoma of mediastinum NCI2004_11_17:C6599 juxtapapillary focal choroiditis and chorioretinitis DOID:1978 Focal choroiditis and chorioretinitis, juxtapapillary Juxtapapillary focal choroiditis AND chorioretinitis (disorder) disease_ontology true Focal choroiditis and chorioretinitis, juxtapapillary ICD9CM_2006:363.01 Juxtapapillary focal choroiditis AND chorioretinitis (disorder) SNOMEDCT_2005_07_31:6313001 focal chorioretinitis DOID:1979 ICD10CM:H30.0 ICD10CM:H30.00 ICD9CM:363.0 ICD9CM:363.00 SNOMEDCT_US_2015_03_01:15847003 SNOMEDCT_US_2015_03_01:193433002 SNOMEDCT_US_2015_03_01:193439003 SNOMEDCT_US_2015_03_01:359668007 SNOMEDCT_US_2015_03_01:458003 UMLS_CUI:C0154870 disease_ontology mesonephric tumor DOID:198 Mesonephric neoplasm Mesonephric neoplasm (morphology) Mesonephric tumor (morphologic abnormality) Wolffian duct tumour disease_ontology true Mesonephric tumor (morphologic abnormality) SNOMEDCT_2005_07_31:189859003 Mesonephric neoplasm (morphology) SNOMEDCT_2005_07_31:127577004 Mesonephric neoplasm NCI2004_11_17:C4295 SNOMEDCT_2005_07_31:13071008 Wolffian duct tumour Rhabdoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. DOID:1982 disease_ontology true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. url:http://en.wikipedia.org/wiki/Rhabdoviridae Mononegavirales infectious disease A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. DOID:1983 disease_ontology true A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. url:http://en.wikipedia.org/wiki/Mononegavirales rectal neoplasm DOID:1984 MSH:D012004 NCI:C3350 Rectal tumor SNOMEDCT_US_2015_03_01:126847008 UMLS_CUI:C0034885 disease_ontology neoplasm of rectum (disorder) rectum neoplasm SNOMEDCT_2005_07_31:126847008 neoplasm of rectum (disorder) NCI2004_11_17:C3350 Rectal tumor CSP2005:2010-1432 rectum neoplasm perinatal disease DOID:1986 disease_ontology true fetal disease DOID:1987 disease_ontology fetus disorder true CSP2005:2403-8856 fetus disorder rectum lymphoma DOID:1988 Lymphoma of rectum NCI:C5553 UMLS_CUI:C1335685 disease_ontology Lymphoma of rectum NCI2004_11_17:C5553 metastasis to the rectum DOID:1990 disease_ontology metastatic tumor to the rectum true NCI2004_11_17:C7426 metastatic tumor to the rectum metastases to large Intestine DOID:1991 disease_ontology metastatic tumor to the large Intestine secondary malignant neoplasm of large intestine (disorder) true SNOMEDCT_2005_07_31:94365007 secondary malignant neoplasm of large intestine (disorder) NCI2004_11_17:C4581 metastatic tumor to the large Intestine rectum malignant melanoma DOID:1992 NCI:C4640 SNOMEDCT_US_2015_03_01:276822007 UMLS_CUI:C0349539 disease_ontology malignant melanoma of rectum (disorder) melanoma of rectum NCI2004_11_17:C4640 melanoma of rectum SNOMEDCT_2005_07_31:276822007 malignant melanoma of rectum (disorder) rectum cancer A colorectal cancer that is located_in the rectum. DOID:1989 DOID:1993 ICD10CM:C20 ICD9CM:154.1 MSH:D012004 NCI:C7418 NCI:C9382 SNOMEDCT_US_2015_03_01:154466004 SNOMEDCT_US_2015_03_01:187761007 SNOMEDCT_US_2015_03_01:254582000 SNOMEDCT_US_2015_03_01:269545009 SNOMEDCT_US_2015_03_01:363351006 SNOMEDCT_US_2015_03_01:93984006 UMLS_CUI:C0007113 UMLS_CUI:C0949022 cancer of rectum carcinoma of rectum carcinoma of the rectum disease_ontology malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum (disorder) rectal cancer SNOMEDCT_2005_07_31:363351006 malignant tumor of rectum (disorder) SNOMEDCT_2005_07_31:187761007 carcinoma of rectum SNOMEDCT_2005_07_31:254582000 carcinoma of rectum NCI2004_11_17:C9382 carcinoma of the rectum A colorectal cancer that is located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=529764 NCI2004_11_17:C7418 malignant Rectal tumor ICD9CM_2006:154.1 SNOMEDCT_2005_07_31:187761007 SNOMEDCT_2005_07_31:93984006 malignant neoplasm of rectum rectum sarcoma A sarcoma and malignant tumor of rectum that is located_in the rectum. DOID:1995 NCI:C5548 UMLS_CUI:C1335688 disease_ontology sarcoma of rectum NCI2004_11_17:C5548 sarcoma of rectum A sarcoma and malignant tumor of rectum that is located_in the rectum. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20rectum&c=pc&ss= rectum adenocarcinoma A rectum cancer that derives_from epithelial cells of glandular origin. DOID:1996 NCI:C9383 Rectal adenocarcinoma SNOMEDCT_US_2015_03_01:254582000 UMLS_CUI:C0149978 adenocarcinoma of rectum adenocarcinoma of rectum (disorder) disease_ontology SNOMEDCT_2005_07_31:254582000 adenocarcinoma of rectum (disorder) A rectum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C9383 Rectal adenocarcinoma Lutembacher's syndrome DOID:1998 Lutembacher syndrome Lutembacher's anomaly (disorder) MSH:D008185 SNOMEDCT_US_2015_03_01:204319006 SNOMEDCT_US_2015_03_01:38842003 UMLS_CUI:C0024164 disease_ontology Lutembacher's anomaly (disorder) SNOMEDCT_2005_07_31:38842003 chronic eustachian salpingitis A otosalpingitis which is persistent and long-lasting. DOID:1999 ICD10CM:H68.02 ICD10CM:H68.029 ICD9CM:381.52 SNOMEDCT_US_2015_03_01:16397004 SNOMEDCT_US_2015_03_01:194269002 UMLS_CUI:C0155430 chronic eustachian salpingitis (disorder) chronic eustachian tube salpingitis (disorder) disease_ontology A otosalpingitis which is persistent and long-lasting. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false SNOMEDCT_2005_07_31:194269002 chronic eustachian tube salpingitis (disorder) SNOMEDCT_2005_07_31:16397004 chronic eustachian salpingitis (disorder) giant cell tumor DOID:200 Giant cell neoplasm Giant cell tumor (morphologic abnormality) Giant cell tumor (qualifier value) Giant cell tumor NOS (morphologic abnormality) Giant cell tumors Giant cell tumors (morphologic abnormality) MSH:D005870 NCI:C3055 NCI:C7069 SNOMEDCT_US_2015_03_01:115238001 SNOMEDCT_US_2015_03_01:134300001 SNOMEDCT_US_2015_03_01:189890001 SNOMEDCT_US_2015_03_01:189893004 SNOMEDCT_US_2015_03_01:443790001 UMLS_CUI:C0017525 disease_ontology tumor of the Giant cell Giant cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115238001 Giant cell tumor (qualifier value) SNOMEDCT_2005_07_31:134300001 Giant cell tumors (morphologic abnormality) SNOMEDCT_2005_07_31:189890001 Giant cell neoplasm NCI2004_11_17:C7069 Giant cell tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189893004 NCI2004_11_17:C3055 tumor of the Giant cell otosalpingitis A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. DOID:2000 Eustachian salpingitis Eustachian salpingitis (disorder) Eustachian salpingitis, unspecified Eustachian tube salpingitis Eustachian tube salpingitis (disorder) Eustachian tube salpingitis NOS (disorder) ICD10CM:H68.0 ICD10CM:H68.00 ICD10CM:H68.009 ICD9CM:381.5 ICD9CM:381.50 SNOMEDCT_US_2015_03_01:194266009 SNOMEDCT_US_2015_03_01:194267000 SNOMEDCT_US_2015_03_01:194270001 SNOMEDCT_US_2015_03_01:270491006 SNOMEDCT_US_2015_03_01:35349000 UMLS_CUI:C0155428 Unspecified eustachian tube salpingitis (disorder) disease_ontology Eustachian salpingitis ICD9CM_2006:381.5 A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false Eustachian salpingitis (disorder) SNOMEDCT_2005_07_31:35349000 Eustachian tube salpingitis (disorder) SNOMEDCT_2005_07_31:270491006 Eustachian salpingitis, unspecified ICD9CM_2006:381.50 Eustachian tube salpingitis SNOMEDCT_2005_07_31:194266009 SNOMEDCT_2005_07_31:194267000 Unspecified eustachian tube salpingitis (disorder) Eustachian tube salpingitis NOS (disorder) SNOMEDCT_2005_07_31:194270001 neuroma A nervous system benign neoplasm that is characterized as a nerve tissue tumor. DOID:2001 MSH:D009463 NCI:C3275 SNOMEDCT_US_2015_03_01:154622009 SNOMEDCT_US_2015_03_01:189950003 SNOMEDCT_US_2015_03_01:25169009 SNOMEDCT_US_2015_03_01:274089002 SNOMEDCT_US_2015_03_01:443892003 UMLS_CUI:C0027858 disease_ontology A nervous system benign neoplasm that is characterized as a nerve tissue tumor. url:http://en.wikipedia.org/wiki/Neuroma tracheal tuberculosis A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. DOID:2005 Isolated tracheal or bronchial tuberculosis (disorder) Isolated tracheal or bronchial tuberculosis NOS (disorder) Isolated tracheal or bronchial tuberculosis, unspecified examination disease_ontology true A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. url:http://ats.ctsnetjournals.org/cgi/content/full/82/5/1900 Isolated tracheal or bronchial tuberculosis NOS (disorder) SNOMEDCT_2005_07_31:186191004 Isolated tracheal or bronchial tuberculosis (disorder) SNOMEDCT_2005_07_31:186188004 ICD9CM_2006:012.20 Isolated tracheal or bronchial tuberculosis, unspecified examination preretinal fibrosis DOID:2006 ICD9CM:362.56 Macular puckering of retina Macular retinal puckering (disorder) SNOMEDCT_US_2015_03_01:367649002 SNOMEDCT_US_2015_03_01:53428005 SNOMEDCT_US_2015_03_01:55991001 UMLS_CUI:C0154853 cellophane maculopathy disease_ontology ICD9CM_2006:362.56 Macular puckering of retina SNOMEDCT_2005_07_31:367649002 cellophane maculopathy Macular retinal puckering (disorder) SNOMEDCT_2005_07_31:53428005 degeneration of macula and posterior pole DOID:2007 ICD10CM:H35.3 ICD9CM:362.5 SNOMEDCT_US_2015_03_01:193384000 SNOMEDCT_US_2015_03_01:193392009 SNOMEDCT_US_2015_03_01:267611002 UMLS_CUI:C0339436 degeneration of macula and posterior pole (disorder) degeneration of macula and posterior pole of retina degeneration of macula or posterior pole NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:193392009 degeneration of macula or posterior pole NOS (disorder) SNOMEDCT_2005_07_31:267611002 degeneration of macula and posterior pole (disorder) ICD9CM_2006:362.5 degeneration of macula and posterior pole of retina connective tissue cancer A musculoskeletal system cancer that is located_in connective tissue. DOID:201 MSH:D009372 SNOMEDCT_US_2015_03_01:126598008 SNOMEDCT_US_2015_03_01:254821003 Tumour of connective tissue UMLS_CUI:C0027656 connective tissue neoplasm disease_ontology neoplasm of connective tissues (disorder) SNOMEDCT_2005_07_31:126598008 neoplasm of connective tissues (disorder) SNOMEDCT_2005_07_31:254821003 Tumour of connective tissue A musculoskeletal system cancer that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue CSP2005:2008-3809 connective tissue neoplasm impaired mobility of ear ossicles except malleus DOID:2010 Impaired mobility of ear ossicles, except malleus (disorder) Impaired mobility of other ear ossicles disease_ontology true ICD9CM_2006:385.22 Impaired mobility of other ear ossicles Impaired mobility of ear ossicles, except malleus (disorder) SNOMEDCT_2005_07_31:25952008 Nezelof syndrome DOID:2012 ICD10CM:D81.4 ICD9CM:279.13 MSH:C536288 Nezelof's syndrome Nezelof's syndrome (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:242700 SNOMEDCT_US_2015_03_01:55602000 T-lymphocyte deficiency UMLS_CUI:C0152094 disease_ontology Nezelof's syndrome (disorder) SNOMEDCT_2005_07_31:55602000 ICD9CM_2006:279.13 Nezelof's syndrome perinatal digestive system disorder DOID:2014 disease_ontology true hyperinsulinism DOID:2018 ICD10CM:E16.1 MSH:D006946 NCI:C113104 SNOMEDCT_US_2015_03_01:124860004 SNOMEDCT_US_2015_03_01:131103005 SNOMEDCT_US_2015_03_01:154694003 SNOMEDCT_US_2015_03_01:267477002 SNOMEDCT_US_2015_03_01:83469008 UMLS_CUI:C0020459 disease_ontology hyperinsulinemia hyperinsulinism (disorder) hyperinsulinism NOS CSP2005:2204-2400 hyperinsulinemia SNOMEDCT_2005_07_31:83469008 hyperinsulinism (disorder) MTHICD9_2006:251.1 hyperinsulinism NOS placenta cancer DOID:2021 DOID:2023 ICD10CM:C58 ICD9CM:181 NCI:C3555 Placental tumors SNOMEDCT_US_2015_03_01:188187004 SNOMEDCT_US_2015_03_01:449421003 UMLS_CUI:C0153572 disease_ontology malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta (disorder) placental cancer primary malignant neoplasm of placenta CSP2005:2403-0590 placental cancer NCI2004_11_17:C3555 malignant Placental tumor SNOMEDCT_2005_07_31:93965008 primary malignant neoplasm of placenta SNOMEDCT_2005_07_31:126920004 neoplasm of placenta (disorder) ICD9CM_2006:181 SNOMEDCT_2005_07_31:188187004 malignant neoplasm of placenta NCI2004_11_17:C4858 Placental tumors metastatic neoplasm to the placenta DOID:2022 disease_ontology metastatic tumor to the Placenta true NCI2004_11_17:C8546 metastatic tumor to the Placenta placental choriocarcinoma Choriocarcinoma of the Placenta DOID:2024 NCI:C8893 SNOMEDCT_US_2015_03_01:448401007 UMLS_CUI:C0855173 disease_ontology Choriocarcinoma of the Placenta NCI2004_11_17:C8893 gestational choriocarcinoma DOID:2025 Gestational choriocarcinoma (morphologic abnormality) Gestational chorionepithelioma Molar pregnancy with choriocarcinoma (disorder) NCI:C4646 SNOMEDCT_US_2015_03_01:1884006 SNOMEDCT_US_2015_03_01:417057000 SNOMEDCT_US_2015_03_01:417570003 UMLS_CUI:C0349557 disease_ontology Gestational chorionepithelioma SNOMEDCT_2005_07_31:417570003 Gestational choriocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:417057000 Molar pregnancy with choriocarcinoma (disorder) SNOMEDCT_2005_07_31:1884006 fetal or neonatal hemorrhage DOID:2027 disease_ontology true exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone. DOID:203 ICD10CM:M27.8 ICD9CM:726.91 MSH:D005096 NCI:C3029 SNOMEDCT_US_2015_03_01:156665008 SNOMEDCT_US_2015_03_01:202894007 SNOMEDCT_US_2015_03_01:267997004 SNOMEDCT_US_2015_03_01:268091003 SNOMEDCT_US_2015_03_01:416189003 SNOMEDCT_US_2015_03_01:80400009 UMLS_CUI:C1442903 bone spur bony outgrowth disease_ontology orbital exostosis osteophyte swimmer's exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone. url:http://en.wikipedia.org/wiki/Exostosis url:http://medical-dictionary.thefreedictionary.com/exostosis SNOMEDCT_2005_07_31:393603002 osteophyte SNOMEDCT_2005_07_31:80400009 bony outgrowth NCI2004_11_17:C3029 bone spur anxiety disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:12884 DOID:2030 ICD10CM:F41.9 ICD9CM:300.09 MSH:D001008 NCI:C2878 SNOMEDCT_US_2015_03_01:191703000 SNOMEDCT_US_2015_03_01:192405006 SNOMEDCT_US_2015_03_01:197480006 SNOMEDCT_US_2015_03_01:65673007 UMLS_CUI:C0003469 UMLS_CUI:C0154455 anxiety state disease_ontology A cognitive disorder that involves an excessive, irrational dread of everyday situations. url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language. DOID:2033 ICD10CM:F80.9 MSH:D003147 NCI:C2958 SNOMEDCT_US_2015_03_01:278919001 SNOMEDCT_US_2015_03_01:74825008 UMLS_CUI:C0009460 disease_ontology A specific developmental disorder that involves specific developmental disorders of speech and language. url:http://en.wikipedia.org/wiki/Communication_disorder encephalomalacia DOID:2034 Encephalomalacia (disorder) MSH:D004678 NCI:C98920 SNOMEDCT_US_2015_03_01:58762006 UMLS_CUI:C0014068 disease_ontology Encephalomalacia (disorder) SNOMEDCT_2005_07_31:58762006 urogenital abnormality DOID:2038 disease_ontology true enthesopathy DOID:204 ICD10CM:M77.9 ICD9CM:726.9 ICD9CM:726.90 MSH:D012216 SNOMEDCT_US_2015_03_01:202890003 SNOMEDCT_US_2015_03_01:23680005 SNOMEDCT_US_2015_03_01:278525009 UMLS_CUI:C0242490 disease_ontology hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12591 DOID:12592 DOID:2042 DOID:2043 EFO:0004197 MSH:D006509 NCI:C3097 SNOMEDCT_US_2015_03_01:154348008 SNOMEDCT_US_2015_03_01:186625003 SNOMEDCT_US_2015_03_01:266195001 SNOMEDCT_US_2015_03_01:66071002 Serum hepatitis UMLS_CUI:C0019163 chronic hepatitis B disease_ontology hepatitis B infection MTHICD9_2006:070.3 Serum hepatitis A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://en.wikipedia.org/wiki/Hepatitis_B#Transmission url:http://www.cdc.gov/hepatitis/HBV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf drug-induced hepatitis DOID:2044 Drug-induced chronic hepatitis (disorder) MSH:D056487 SNOMEDCT_US_2015_03_01:235889003 UMLS_CUI:C0524912 disease_ontology Drug-induced chronic hepatitis (disorder) SNOMEDCT_2005_07_31:235889003 hepatitis D A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. DOID:2046 DOID:2047 MSH:D003699 SNOMEDCT_US_2015_03_01:424460009 SNOMEDCT_US_2015_03_01:707341005 UMLS_CUI:C0011226 delta hepatitis disease_ontology A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. url:http://www.cdc.gov/hepatitis/HDV/index.htm url:http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html CSP2005:1754-6994 delta hepatitis autoimmune hepatitis An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. Autoimmune Hepatitis Autoimmune chronic active hepatitis Autoimmune hepatitis Autoimmune hepatitis (disorder) DOID:2048 DOID:4745 ICD10CM:K75.4 ICD9CM:571.42 MSH:D019693 NCI:C27029 NCI:C27778 SNOMEDCT_US_2015_03_01:197284004 SNOMEDCT_US_2015_03_01:408335007 SNOMEDCT_US_2015_03_01:68784009 UMLS_CUI:C0241910 UMLS_CUI:C1332355 autoimmune hepatitis with centrilobular necrosis disease_ontology Autoimmune hepatitis (disorder) SNOMEDCT_2005_07_31:408335007 Autoimmune Hepatitis NCI2004_11_17:C27029 Autoimmune hepatitis SNOMEDCT_2005_07_31:68784009 An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis Autoimmune chronic active hepatitis SNOMEDCT_2005_07_31:197284004 hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone. DOID:205 ICD10CM:M89.3 ICD10CM:M89.30 MSH:D015576 NCI:C34712 SNOMEDCT_US_2015_03_01:13814009 SNOMEDCT_US_2015_03_01:203514008 UMLS_CUI:C0020492 bone hypertrophy disease_ontology hypertrophy of bone hypertrophy of bone (disorder) hypertrophy of bone (morphologic abnormality) NCI2004_11_17:C34712 bone hypertrophy SNOMEDCT_2005_07_31:203514008 hypertrophy of bone (disorder) SNOMEDCT_2005_07_31:13814009 hypertrophy of bone (morphologic abnormality) MTHICD9_2006:733.99 hypertrophy of bone A bone remodeling disease that results in an abnormal growth of located_in bone. url:http://en.wikipedia.org/wiki/Hyperostosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/h/hyperostosis.aspx url:http://www.medterms.com/script/main/art.asp?articlekey=3842 acute maxillary sinusitis A maxillary sinusitis which lasts for less than 4 weeks. DOID:2050 ICD10CM:J01.0 ICD10CM:J01.00 ICD9CM:461.0 SNOMEDCT_US_2015_03_01:155499007 SNOMEDCT_US_2015_03_01:18714001 SNOMEDCT_US_2015_03_01:68272006 UMLS_CUI:C0155804 acute antritis disease_ontology A maxillary sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm maxillary sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. DOID:2051 ICD10CM:J32.0 MSH:D015523 NCI:C34809 SNOMEDCT_US_2015_03_01:275484005 SNOMEDCT_US_2015_03_01:88348008 UMLS_CUI:C0024959 disease_ontology A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm reactive cutaneous fibrous lesion DOID:2053 NCI:C27549 UMLS_CUI:C1335666 disease_ontology post-traumatic stress disorder An anxiety disorder which results from a traumatic experience that results in psychological trauma. DOID:2055 ICD10CM:F43.1 ICD10CM:F43.10 ICD9CM:309.81 MSH:D013313 NCI:C3389 SNOMEDCT_US_2015_03_01:192415000 SNOMEDCT_US_2015_03_01:47505003 UMLS_CUI:C0038436 disease_ontology post-traumatic stress disorder traumatic neurosis CSP2005:4000-0295 traumatic neurosis An anxiety disorder which results from a traumatic experience that results in psychological trauma. url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder chronic mucocutaneous candidiasis A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. DOID:2056 DOID:2058 ICD10CM:B37.2 MSH:D002178 NCI:C34444 OMIM:114580 OMIM:212050 OMIM:607644 OMIM:613108 OMIM:613953 OMIM:613956 OMIM:614162 OMIM:615527 OMIM:616445 ORDO:1334 SNOMEDCT_US_2015_03_01:234568006 UMLS_CUI:C0006845 chronic Mucocutaneous Candidiasis disease_ontology NCI2004_11_17:C34444 chronic Mucocutaneous Candidiasis A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. url:http://emedicine.medscape.com/article/1091928-overview url:http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh vulvar disease DOID:2059 MSH:D014845 NCI:C27631 SNOMEDCT_US_2015_03_01:5089007 UMLS_CUI:C0042994 disease_ontology hereditary multiple exostoses An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. DOID:206 ICD10CM:Q78.6 MSH:D005097 Multiple congenital exostosis Multiple exostosis syndromes NCI:C5183 OMIM mapping confirmed by DO. [SN]. OMIM:133700 OMIM:133701 OMIM:600209 ORDO:321 Osteochondromatosis syndrome (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:16535008 SNOMEDCT_US_2015_03_01:205479007 SNOMEDCT_US_2015_03_01:240186007 SNOMEDCT_US_2015_03_01:254044004 SNOMEDCT_US_2015_03_01:84852005 UMLS_CUI:C0015306 disease_ontology hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas Multiple exostosis syndromes SNOMEDCT_2005_07_31:240186007 Osteochondromatosis syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:16535008 An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses url:http://www.mheresearchfoundation.org/ url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis Multiple congenital exostosis SNOMEDCT_2005_07_31:205479007 vulvar nodular hidradenoma DOID:2060 NCI:C40312 UMLS_CUI:C1520091 disease_ontology nodular hidradenoma DOID:2061 Eccrine nodular hidradenoma disease_ontology nodular hidradenoma MTH:NOCODE nodular hidradenoma Eccrine nodular hidradenoma SNOMEDCT_2005_07_31:254719003 vulvar tumor of skin appendage origin DOID:2062 disease_ontology true vulvar syringoma DOID:2064 NCI:C40311 UMLS_CUI:C1520099 disease_ontology syringoma DOID:2065 MSH:D018252 NCI:C3761 SNOMEDCT_US_2015_03_01:134158007 SNOMEDCT_US_2015_03_01:189051001 SNOMEDCT_US_2015_03_01:302828001 SNOMEDCT_US_2015_03_01:71244007 Syringoma (disorder) Syringoma (morphologic abnormality) Syringoma NOS (morphologic abnormality) UMLS_CUI:C0206673 disease_ontology SNOMEDCT_2005_07_31:134158007 Syringoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:302828001 Syringoma (disorder) SNOMEDCT_2005_07_31:71244007 Syringoma (morphologic abnormality) vulvar angiokeratoma DOID:2066 Fordyce angiokeratoma of vulva NCI:C8596 SNOMEDCT_US_2015_03_01:402841001 UMLS_CUI:C1274281 disease_ontology Fordyce angiokeratoma of vulva SNOMEDCT_2005_07_31:402841001 Bartholin's gland benign neoplasm Bartholin gland neoplasm DOID:2068 NCI:C6434 UMLS_CUI:C0220616 disease_ontology tumor of Bartholin's gland NCI2004_11_17:C6434 tumor of Bartholin's gland vulvar acquired melanocytic nevus DOID:2069 disease_ontology true vulvar melanocytic neoplasm DOID:2070 disease_ontology true vulvar squamous papilloma DOID:2071 NCI:C6376 UMLS_CUI:C1336982 disease_ontology vulvar squamous tumor DOID:2072 NCI:C40283 UMLS_CUI:C1520097 disease_ontology perinatal intestinal perforation DOID:2073 ICD10CM:P78.0 ICD9CM:777.6 Perinatal intestinal perforation (disorder) SNOMEDCT_US_2015_03_01:206526009 SNOMEDCT_US_2015_03_01:65390006 UMLS_CUI:C0159006 disease_ontology Perinatal intestinal perforation (disorder) SNOMEDCT_2005_07_31:65390006 intestinal perforation DOID:2074 ICD9CM:569.83 MSH:D007416 NCI:C39611 Perforation of intestine SNOMEDCT_US_2015_03_01:56905009 UMLS_CUI:C0021845 disease_ontology ICD9CM_2006:569.83 Perforation of intestine minor vestibular glands adenoma DOID:2075 NCI:C40301 UMLS_CUI:C1510791 adenoma of minor vestibular glands disease_ontology vulvar glandular tumor DOID:2076 NCI:C40292 UMLS_CUI:C1520082 disease_ontology vulvar congenital melanocytic nevus DOID:2077 disease_ontology true chondroid syringoma of the vulva DOID:2078 NCI:C40302 UMLS_CUI:C1511091 disease_ontology eccrine mixed tumor of skin DOID:2079 Eccrine mixed tumor (disorder) Eccrine mixed tumor (morphologic abnormality) NCI:C4474 SNOMEDCT_US_2015_03_01:254720009 SNOMEDCT_US_2015_03_01:400144002 UMLS_CUI:C0346026 disease_ontology mixed Eccrine neoplasm of the skin Eccrine mixed tumor (disorder) SNOMEDCT_2005_07_31:254720009 NCI2004_11_17:C4474 mixed Eccrine neoplasm of the skin Eccrine mixed tumor (morphologic abnormality) SNOMEDCT_2005_07_31:400144002 hereditary neoplastic syndrome DOID:208 Familiar neoplastic syndrome disease_ontology true Familiar neoplastic syndrome NCI2004_11_17:C3266 vulvar trichoepithelioma DOID:2080 NCI:C40314 UMLS_CUI:C1520100 disease_ontology vulvar soft tissue tumor DOID:2083 disease_ontology true vulvar blue nevus DOID:2085 disease_ontology true blue nevus Blue naevus Blue nevus (morphologic abnormality) Blue nevus NOS (morphologic abnormality) Blue nevus of skin (disorder) Blue skin nevus DOID:2086 disease_ontology true Blue nevus (morphologic abnormality) SNOMEDCT_2005_07_31:63166000 Blue nevus NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189757006 Blue nevus of skin (disorder) SNOMEDCT_2005_07_31:254806009 Blue naevus SNOMEDCT_2005_07_31:189051001 Blue skin nevus NCI2004_11_17:C3803 outlet dysfunction constipation DOID:2088 ICD10CM:K59.02 ICD9CM:564.02 UMLS_CUI:C0949134 disease_ontology constipation A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. DOID:2089 ICD10CM:K59.0 ICD10CM:K59.00 ICD9CM:564.0 ICD9CM:564.00 MSH:D003248 NCI:C37930 SNOMEDCT_US_2015_03_01:129585003 SNOMEDCT_US_2015_03_01:139356000 SNOMEDCT_US_2015_03_01:139358004 SNOMEDCT_US_2015_03_01:139359007 SNOMEDCT_US_2015_03_01:14760008 SNOMEDCT_US_2015_03_01:162080004 SNOMEDCT_US_2015_03_01:162082007 SNOMEDCT_US_2015_03_01:162083002 SNOMEDCT_US_2015_03_01:197123003 SNOMEDCT_US_2015_03_01:363693003 UMLS_CUI:C0009806 disease_ontology A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. PMID:19647687 url:https://en.wikipedia.org/wiki/Constipation transient arthritis DOID:2092 ICD10CM:M12.8 ICD9CM:716.4 ICD9CM:716.40 NCI:C35761 SNOMEDCT_US_2015_03_01:201987005 SNOMEDCT_US_2015_03_01:202019004 SNOMEDCT_US_2015_03_01:66191007 UMLS_CUI:C0152083 disease_ontology vulvar melanoma DOID:2093 NCI:C40329 SNOMEDCT_US_2015_03_01:254896002 UMLS_CUI:C0241989 disease_ontology malignant melanoma of vulva (disorder) SNOMEDCT_2005_07_31:254896002 malignant melanoma of vulva (disorder) vulvar sweat gland cancer DOID:2094 disease_ontology true sweat gland cancer DOID:2095 ICD10CM:C44 NCI:C4810 SNOMEDCT_US_2015_03_01:188083002 SNOMEDCT_US_2015_03_01:255095005 SNOMEDCT_US_2015_03_01:32272007 SNOMEDCT_US_2015_03_01:359719004 UMLS_CUI:C1321904 disease_ontology malignant neoplasm of sweat gland malignant tumor of the Sweat gland NCI2004_11_17:C4810 malignant tumor of the Sweat gland vulvar sarcoma DOID:2096 NCI:C40317 SNOMEDCT_US_2015_03_01:254897006 UMLS_CUI:C0238525 disease_ontology sarcoma of vulva (disorder) SNOMEDCT_2005_07_31:254897006 sarcoma of vulva (disorder) vulval Paget's disease DOID:2097 NCI:C4027 Paget's disease of vulva (disorder) SNOMEDCT_US_2015_03_01:254898001 SNOMEDCT_US_2015_03_01:403948004 UMLS_CUI:C1275217 Vulval Paget's disease (disorder) Vulvar Paget's disease disease_ontology vulval Paget disease SNOMEDCT_2005_07_31:403948004 Vulval Paget's disease (disorder) NCI2004_11_17:C4027 Vulvar Paget's disease Paget's disease of vulva (disorder) SNOMEDCT_2005_07_31:254898001 vulva adenocarcinoma A vulva carcinoma that derives_from epithelial cells of glandular origin. DOID:2098 NCI:C6380 UMLS_CUI:C1336975 adenocarcinoma of Vulva adenocarcinoma of the vulva disease_ontology NCI2004_11_17:C6380 adenocarcinoma of Vulva A vulva carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma extramammary Paget's disease DOID:2099 Extramammary Paget's disease (morphologic abnormality) OMIM mapping confirmed by DO. [SN]. Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) disease_ontology extramammary Paget disease true Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) SNOMEDCT_2005_07_31:71447003 Extramammary Paget's disease (morphologic abnormality) SNOMEDCT_2005_07_31:302830004 heel spur An exostosis that results_in an abnormal growth located_in calcaneus. Calcaneal spur DOID:210 ICD10CM:M77.3 ICD10CM:M77.30 ICD9CM:726.73 MSH:D036982 SNOMEDCT_US_2015_03_01:156663001 SNOMEDCT_US_2015_03_01:268090002 SNOMEDCT_US_2015_03_01:55260003 UMLS_CUI:C0158322 disease_ontology Calcaneal spur ICD9CM_2006:726.73 An exostosis that results_in an abnormal growth located_in calcaneus. url:http://en.wikipedia.org/wiki/Calcaneal_spur url:http://www.medterms.com/script/main/art.asp?articlekey=7094 vulvar metastasis DOID:2100 disease_ontology true vulva squamous cell carcinoma A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. DOID:2101 NCI:C4052 SNOMEDCT_US_2015_03_01:254895003 UMLS_CUI:C0280856 Vulvar Epidermoid carcinoma disease_ontology squamous cell carcinoma of vulva vulvar squamous cell carcinoma NCI2004_11_17:C4052 Vulvar Epidermoid carcinoma A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma Thomsen disease Congenital myotonia, NOS Congenital myotonia, autosomal dominant form (disorder) DOID:2106 ICD9CM:359.22 MSH:D009224 NCI:C84912 OMIM mapping confirmed by DO. [SN]. OMIM:160800 Thomsen's disease UMLS_CUI:C0027127 disease_ontology myotonia congenita MTHICD9_2006:359.2 Thomsen's disease Congenital myotonia, NOS SNOMEDCT_2005_07_31:72087003 CSP2005:1849-6776 Thomsen's disease Congenital myotonia, autosomal dominant form (disorder) SNOMEDCT_2005_07_31:57938005 transplant-related disease An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. DOID:2108 disease_ontology true An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. ls:IEDB Ankle or tarsus enthesopathy DOID:211 disease_ontology true cystoisosporiasis A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. DOID:2112 DOID:4891 ICD10CM:A07.3 Infection by Isospora belli and Isospora hominis Isosporosis MSH:D021865 NCI:C4076 SNOMEDCT_US_2015_03_01:240373006 SNOMEDCT_US_2015_03_01:360427001 SNOMEDCT_US_2015_03_01:371423007 SNOMEDCT_US_2015_03_01:73034009 UMLS_CUI:C0311386 disease_ontology isosporiasis A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm Isosporosis SNOMEDCT_2005_07_31:240373006 Infection by Isospora belli and Isospora hominis MTHICD9_2006:007.2 coccidiosis A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. Coccidiosis (& [intestinal]) DOID:2113 MSH:D003048 NCI:C34493 SNOMEDCT_US_2015_03_01:186125004 SNOMEDCT_US_2015_03_01:62005008 UMLS_CUI:C0009187 disease_ontology intestinal coccidiosis Coccidiosis (& [intestinal]) SNOMEDCT_2005_07_31:186125004 A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. url:http://en.wikipedia.org/wiki/Coccidiosis B cell deficiency A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. B cell (antibody) deficiencies DOID:2115 DOID:6026 ICD9CM:279.03 Immunoglobulin heavy chain deficiency (disorder) SNOMEDCT_US_2015_03_01:190982008 UMLS_CUI:C0154276 disease_ontology immunoglobulin heavy chain deletion Immunoglobulin heavy chain deficiency (disorder) SNOMEDCT_2005_07_31:234539005 A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency focal dermal hypoplasia DOID:2120 Goltz syndrome MSH:D005489 NCI:C84715 OMIM mapping confirmed by DO. [SN]. OMIM:305600 SNOMEDCT_US_2015_03_01:205573006 SNOMEDCT_US_2015_03_01:2298005 UMLS_CUI:C0016395 disease_ontology CSP2005:0726-8244 Goltz syndrome ectodermal dysplasia Congenital ectodermal defect Congenital ectodermal defect (disorder) Congenital ectodermal dysplasia DOID:2121 Ectodermal dysplasia (disorder) disease_ontology true Congenital ectodermal dysplasia ICD9CM_2006:757.31 Congenital ectodermal defect SNOMEDCT_2005_07_31:205610005 Ectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:8654005 Congenital ectodermal defect (disorder) SNOMEDCT_2005_07_31:254154003 pneumonic tularemia A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. DOID:2122 ICD10CM:A21.2 ICD9CM:021.2 Pneumonic tularaemia SNOMEDCT_US_2015_03_01:186297007 SNOMEDCT_US_2015_03_01:45556008 UMLS_CUI:C0339946 bronchopneumonic tularemia disease_ontology pulmonary tularemia pulmonary tularemia [dup] (disorder) A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. url:http://www.cdc.gov/tularemia/signssymptoms/ Pneumonic tularaemia SNOMEDCT_2005_07_31:45556008 SNOMEDCT_2005_07_31:186297007 pulmonary tularemia [dup] (disorder) ICD9CM_2006:021.2 pulmonary tularemia tularemia A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. DOID:2123 ICD9CM:021.8 SNOMEDCT_US_2015_03_01:111834003 SNOMEDCT_US_2015_03_01:186298002 SNOMEDCT_US_2015_03_01:186299005 UMLS_CUI:C0029835 disease_ontology A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. url:http://www.cdc.gov/tularemia/index.html intracranial neoplasm DOID:1320 DOID:2124 disease_ontology intracranial central nervous system tumors intracranial tumor (disorder) intracranial tumors, malignant malignant intracranial neoplasm true NCI2004_11_17:C4953 intracranial central nervous system tumors NCI2004_11_17:C5114 intracranial tumors, malignant SNOMEDCT_2005_07_31:254935002 intracranial tumor (disorder) brain germinoma DOID:2127 NCI:C6284 UMLS_CUI:C1332606 disease_ontology germinoma of the brain intracranial germinoma NCI2004_11_17:C6284 germinoma of the brain intracranial germinoma DOID:2128 disease_ontology true atypical teratoid rhabdoid tumor A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. AT/RT Atypical teratoid/rhabdoid tumor (morphologic abnormality) DOID:2129 NCI:C6906 OMIM mapping confirmed by DO. [SN]. OMIM:609322 Rhabdoid tumor of the CNS SNOMEDCT_US_2015_03_01:128792003 UMLS_CUI:C1266184 disease_ontology rhabdoid tumor predisposition syndrome A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor NCI2004_11_17:C6906 Rhabdoid tumor of the CNS Atypical teratoid/rhabdoid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128792003 childhood malignant central nervous system neoplasm DOID:2131 disease_ontology malignant pediatric tumor of CNS true NCI2004_11_17:C5448 malignant pediatric tumor of CNS brain sarcoma DOID:2132 NCI:C5154 UMLS_CUI:C1332607 disease_ontology sarcoma of the brain NCI2004_11_17:C5154 sarcoma of the brain central nervous system sarcoma DOID:2133 NCI:C5153 UMLS_CUI:C1332892 disease_ontology sarcoma of the CNS NCI2004_11_17:C5153 sarcoma of the CNS temporal lobe neoplasm DOID:2134 DOID:2135 ICD10CM:C71.2 ICD9CM:191.2 NCI:C5567 SNOMEDCT_US_2015_03_01:126955002 SNOMEDCT_US_2015_03_01:188291000 SNOMEDCT_US_2015_03_01:363468009 SNOMEDCT_US_2015_03_01:94086000 UMLS_CUI:C0153636 UMLS_CUI:C1263887 disease_ontology malignant neoplasm of temporal lobe malignant neoplasm of temporal lobe (disorder) malignant neoplasm of temporal lobe NOS (disorder) neoplasm of temporal lobe (disorder) tumor of Temporal Lobe SNOMEDCT_2005_07_31:126955002 neoplasm of temporal lobe (disorder) NCI2004_11_17:C5567 tumor of Temporal Lobe SNOMEDCT_2005_07_31:363468009 malignant neoplasm of temporal lobe (disorder) SNOMEDCT_2005_07_31:188291000 malignant neoplasm of temporal lobe NOS (disorder) paraurethral gland neoplasm DOID:2139 SNOMEDCT_US_2015_03_01:126884005 UMLS_CUI:C0341766 disease_ontology neoplasm of paraurethral glands (disorder) tumor of the Paraurethral gland SNOMEDCT_2005_07_31:126884005 neoplasm of paraurethral glands (disorder) NCI2004_11_17:C4378 tumor of the Paraurethral gland teeth hard tissue disease DOID:214 ICD10CM:K03.8 ICD10CM:K03.89 ICD9CM:521.8 ICD9CM:521.89 SNOMEDCT_US_2015_03_01:197505001 UMLS_CUI:C0029770 disease_ontology urethral urothelial papilloma DOID:2140 NCI:C5061 UMLS_CUI:C1519826 disease_ontology urethra leiomyoma DOID:2142 NCI:C6171 UMLS_CUI:C1336888 disease_ontology leiomyoma of the urethra NCI2004_11_17:C6171 leiomyoma of the urethra ovarian malignant mesothelioma DOID:2143 NCI:C40444 UMLS_CUI:C1518721 disease_ontology malignant ovarian cyst DOID:2145 NCI:C3843 UMLS_CUI:C0235770 disease_ontology ovary sarcoma DOID:2146 NCI:C8267 SNOMEDCT_US_2015_03_01:423627007 UMLS_CUI:C0280746 disease_ontology sarcoma of Ovary NCI2004_11_17:C8267 sarcoma of Ovary ovary soft tissue neoplasm DOID:2147 disease_ontology soft tissue tumor of Ovary true NCI2004_11_17:C5244 soft tissue tumor of Ovary tuberculous oophoritis An urogenital tuberculosis that results_in inflammtion located_in ovary. DOID:2148 ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2015_03_01:186242002 SNOMEDCT_US_2015_03_01:186243007 UMLS_CUI:C0152828 disease_ontology An urogenital tuberculosis that results_in inflammtion located_in ovary. url:http://www.ams.ac.ir/aim/0581/009.pdf urogenital tuberculosis An extrapulmonary tuberculosis that is located_in urogenital system. DOID:2149 Genitourinary tuberculosis ICD10CM:A18.1 ICD10CM:A18.10 ICD9CM:016 ICD9CM:016.9 MSH:D014401 SNOMEDCT_US_2015_03_01:186246004 SNOMEDCT_US_2015_03_01:4445009 UMLS_CUI:C0041333 disease_ontology An extrapulmonary tuberculosis that is located_in urogenital system. url:http://en.wikipedia.org/wiki/Urogenital_tuberculosis ovarian lymphoma DOID:2150 NCI:C40021 UMLS_CUI:C1518720 disease_ontology malignant ovarian surface epithelial-stromal neoplasm DOID:2151 NCI:C40026 UMLS_CUI:C1518236 disease_ontology ovary epithelial cancer An ovarian cancer that is derived_from ovarian surface epithelium. DOID:2152 NCI:C4381 Ovarian Surface epithelial-Stromal tumor SNOMEDCT_US_2015_03_01:237057005 UMLS_CUI:C0341823 disease_ontology epithelial tumor of ovary epithelial tumor of ovary (disorder) SNOMEDCT_2005_07_31:237057005 epithelial tumor of ovary (disorder) NCI2004_11_17:C4381 Ovarian Surface epithelial-Stromal tumor An ovarian cancer that is derived_from ovarian surface epithelium. url:http://en.wikipedia.org/wiki/Ovarian_cancer url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor ovarian Wilms' cancer A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. DOID:2153 NCI:C40443 UMLS_CUI:C1518746 disease_ontology ovarian Wilms' tumor A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. url:http://www.ncbi.nlm.nih.gov/pubmed/18260155 nephroblastoma A kidney cancer that affects the kidneys and typically located_in children. DOID:2154 DOID:5177 DOID:5180 EFOpat_id:852 MSH:D009396 NCI:C27730 NCI:C3267 NCI:C40407 NCI:C6180 OMIM mapping confirmed by DO. [SN]. OMIM:194070 SNOMEDCT_US_2015_03_01:25081006 SNOMEDCT_US_2015_03_01:302849000 SNOMEDCT_US_2015_03_01:31470003 UMLS_CUI:C0027708 UMLS_CUI:C1332219 UMLS_CUI:C1333015 Wilms' tumor adult nephroblastoma adult renal Wilms' tumor childhood renal Wilms tumor childhood renal Wilms' cancer disease_ontology renal Wilms tumor NCI2004_11_17:C6180 adult nephroblastoma NCI2004_11_17:C40407 renal Wilms tumor CSP2005:4001-0143 Wilms' tumor A kidney cancer that affects the kidneys and typically located_in children. url:http://en.wikipedia.org/wiki/Wilms%27_tumor malignant ovarian germ cell neoplasm DOID:2155 MSH:C562841 NCI:C4514 SNOMEDCT_US_2015_03_01:254869000 UMLS_CUI:C0346180 disease_ontology malignant Ovarian germ cell tumor malignant germ cell tumor of ovary (disorder) NCI2004_11_17:C4514 malignant Ovarian germ cell tumor SNOMEDCT_2005_07_31:254869000 malignant germ cell tumor of ovary (disorder) ovarian germ cell cancer An ovarian cancer that originates in the germ (egg) cells of the ovary. DOID:2156 NCI:C3873 OMIM mapping confirmed by DO. [SN]. OMIM:603737 SNOMEDCT_US_2015_03_01:237059008 UMLS_CUI:C0238324 disease_ontology germ cell neoplasm of Ovary germ cell tumor of ovary (disorder) ovarian germ cell tumor NCI2004_11_17:C3873 germ cell neoplasm of Ovary An ovarian cancer that originates in the germ (egg) cells of the ovary. url:http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient SNOMEDCT_2005_07_31:237059008 germ cell tumor of ovary (disorder) lung metastasis DOID:2158 disease_ontology metastasis to lung metastatic tumor to the lung secondary malignant neoplasm of lung secondary malignant neoplasm of lung (disorder) true SNOMEDCT_2005_07_31:154566002 metastasis to lung ICD9CM_2006:197.0 secondary malignant neoplasm of lung SNOMEDCT_2005_07_31:94391008 secondary malignant neoplasm of lung (disorder) NCI2004_11_17:C3577 metastatic tumor to the lung dental caries DOID:10785 DOID:10870 DOID:11913 DOID:216 Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure EFO:0003819 ICD10CM:K02 ICD10CM:K02.6 ICD10CM:K02.9 ICD9CM:521.0 ICD9CM:521.00 ICD9CM:521.06 ICD9CM:521.07 MSH:D003731 NCI:C52593 SNOMEDCT_US_2015_03_01:155632007 SNOMEDCT_US_2015_03_01:196307002 SNOMEDCT_US_2015_03_01:80967001 UMLS_CUI:C0011334 UMLS_CUI:C1456144 UMLS_CUI:C1456145 disease_ontology nasal cavity disease DOID:2163 DOID:4728 NCI:C27102 SNOMEDCT_US_2015_03_01:195823002 SNOMEDCT_US_2015_03_01:232340005 SNOMEDCT_US_2015_03_01:232359007 UMLS_CUI:C0339820 disease_ontology disorder of nasal cavity (disorder) nasal cavity disease NOS nasal cavity disease NOS (disorder) nasal cavity disorder non-neoplastic nasal cavity disease SNOMEDCT_2005_07_31:232340005 disorder of nasal cavity (disorder) NCI2004_11_17:C27102 nasal cavity disorder SNOMEDCT_2005_07_31:232359007 nasal cavity disease NOS (disorder) SNOMEDCT_2005_07_31:195823002 nasal cavity disease NOS enamel caries DOID:217 Dental caries limited to enamel Enamel caries (disorder) Enamel dental caries unspecified (disorder) ICD9CM:521.01 SNOMEDCT_US_2015_03_01:109570002 SNOMEDCT_US_2015_03_01:19437001 SNOMEDCT_US_2015_03_01:196303003 SNOMEDCT_US_2015_03_01:80353004 UMLS_CUI:C0266853 disease_ontology primary dental caries simple dental cavity Enamel dental caries unspecified (disorder) SNOMEDCT_2005_07_31:196303003 Enamel caries (disorder) SNOMEDCT_2005_07_31:80353004 SNOMEDCT_2005_07_31:19437001 simple dental cavity Dental caries limited to enamel ICD9CM_2006:521.01 SNOMEDCT_2005_07_31:109570002 primary dental caries vaginitis DOID:10769 DOID:2170 ICD9CM:616.1 ICD9CM:616.10 MSH:D014627 NCI:C26911 SNOMEDCT_US_2015_03_01:155981006 SNOMEDCT_US_2015_03_01:198212006 SNOMEDCT_US_2015_03_01:198213001 SNOMEDCT_US_2015_03_01:198223005 SNOMEDCT_US_2015_03_01:266655004 SNOMEDCT_US_2015_03_01:30800001 SNOMEDCT_US_2015_03_01:393596009 UMLS_CUI:C0042267 UMLS_CUI:C0042268 disease_ontology malignant eyelid tumor DOID:2172 disease_ontology malignant neoplasm of the eyelid malignant tumor of eyelid (disorder) true NCI2004_11_17:C6786 malignant neoplasm of the eyelid SNOMEDCT_2005_07_31:231829006 malignant tumor of eyelid (disorder) eyelid neoplasm DOID:2173 MSH:D005142 NCI:C3031 SNOMEDCT_US_2015_03_01:278697001 UMLS_CUI:C0015424 disease_ontology tumor of the eyelid NCI2004_11_17:C3031 tumor of the eyelid ocular cancer A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. DOID:2174 DOID:9985 ICD9CM:190.8 MSH:D005134 NCI:C3030 Ocular tumor SNOMEDCT_US_2015_03_01:126995000 SNOMEDCT_US_2015_03_01:188277006 SNOMEDCT_US_2015_03_01:371486001 UMLS_CUI:C0015414 UMLS_CUI:C0153632 disease_ontology eye neoplasm malignant eye neoplasm neoplasm of eye (disorder) neoplasm of eye proper SNOMEDCT_2005_07_31:371486001 neoplasm of eye proper CSP2005:2018-3273 eye neoplasm NCI2004_11_17:C3030 Ocular tumor A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. url:http://en.wikipedia.org/wiki/Eye url:http://en.wikipedia.org/wiki/Eye_neoplasm SNOMEDCT_2005_07_31:126995000 neoplasm of eye (disorder) carbuncle Carbuncle and furuncle of buttock Carbuncle and furuncle of face DOID:11083 DOID:11225 DOID:11534 DOID:13284 DOID:13537 DOID:13688 DOID:2175 DOID:2176 DOID:2380 ICD9CM:680.9 UMLS_CUI:C0007079 carbuncle and furuncle of any part of face except eye carbuncle and furuncle of foot carbuncle and furuncle of gluteal region carbuncle and furuncle of hand carbuncle and furuncle of leg except foot carbuncle and furuncle of neck carbuncle and furuncle of trunk carbuncle and furuncle of upper arm and forearm disease_ontology Carbuncle and furuncle of buttock ICD9CM_2006:680.5 Carbuncle and furuncle of face ICD9CM_2006:680.0 complications mainly related to pregnancy Asymptomatic bacteriuria antepartum Asymptomatic bacteriuria in pregnancy, with delivery Asymptomatic bacteriuria postpartum DOID:11640 DOID:11641 DOID:12099 DOID:12100 DOID:12496 DOID:12497 DOID:12648 DOID:12649 DOID:12947 DOID:12948 DOID:12949 DOID:2177 DOID:9624 DOID:9625 DOID:9627 DOID:9628 DOID:9629 Gonorrhea + pregnancy Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium Syphilis + pregnancy Syphilis complicating pregnancy, childbirth, or the puerperium antepartum gonorrhea antepartum malaria antepartum syphilis disease_ontology gonorrhea complicating pregnancy, childbirth, or the puerperium gonorrhea of mother with delivery malaria complicating pregnancy, childbirth, or the puerperium malaria of mother with delivery postpartum gonorrhea postpartum malaria postpartum syphilis syphilis of mother, complicating pregnancy, with delivery true Gonorrhea + pregnancy SNOMEDCT_2005_07_31:267316003 SNOMEDCT_2005_07_31:267316003 Syphilis + pregnancy diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations DOID:2179 Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations disease_ontology true Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations MTHICD9_2006:250.53 Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations ICD9CM_2006:250.53 ascending colon cancer Ca ascending colon Ca ascending colon (disorder) DOID:218 ICD10CM:C18.2 ICD9CM:153.6 SNOMEDCT_US_2015_03_01:154460005 SNOMEDCT_US_2015_03_01:269539001 SNOMEDCT_US_2015_03_01:363412000 SNOMEDCT_US_2015_03_01:93683002 UMLS_CUI:C0153439 disease_ontology malignant neoplasm of right colon malignant tumor of ascending colon (disorder) MTHICD9_2006:153.6 malignant neoplasm of right colon SNOMEDCT_2005_07_31:363412000 malignant tumor of ascending colon (disorder) Ca ascending colon SNOMEDCT_2005_07_31:154460005 Ca ascending colon (disorder) SNOMEDCT_2005_07_31:269539001 diabetic oculopathy DOID:2180 disease_ontology true post-surgical hypoinsulinemia DOID:2181 ICD10CM:E89.1 ICD9CM:251.3 Post-surgical hypoinsulinemia (disorder) Postsurgical hypoinsulinemia Postsurgical hypoinsulinemia (disorder) SNOMEDCT_US_2015_03_01:190437000 SNOMEDCT_US_2015_03_01:78483000 UMLS_CUI:C0154190 disease_ontology ICD9CM_2006:251.3 Postsurgical hypoinsulinemia Postsurgical hypoinsulinemia (disorder) SNOMEDCT_2005_07_31:78483000 Post-surgical hypoinsulinemia (disorder) SNOMEDCT_2005_07_31:190437000 macrocephaly (Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly) Cole-Hughes syndrome DOID:14733 DOID:2186 MACROCEPHALY, benign familial Macrocephaly (disorder) disease_ontology megacephaly true Macrocephaly (disorder) SNOMEDCT_2005_07_31:19410003 (Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly) SNOMEDCT_2005_07_31:204070009 NCI2004_11_17:C35268 megacephaly amelogenesis imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation. CSP:0828-0533 DOID:2187 ICD10CM:K00.5 MSH:D000567 OMIM:104500 OMIM:104510 OMIM:104530 OMIM:130900 OMIM:204650 OMIM:204700 OMIM:301200 OMIM:301201 OMIM:612529 OMIM:613211 OMIM:614832 OMIM:615887 OMIM:616221 OMIM:616270 ORDO:88661 SNOMEDCT_US_2015_03_01:78494001 UMLS_CUI:C0002452 Xref MGI. disease_ontology A dental enamel hypoplasia characterized by abnormal enamel formation. url:http://en.wikipedia.org/wiki/Amelogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract colon cancer A colorectal cancer that is located_in the colon. DOID:219 ICD10CM:C18 ICD10CM:C18.9 ICD9CM:153 ICD9CM:153.9 MSH:D003110 NCI:C9242 SNOMEDCT_US_2015_03_01:154463007 SNOMEDCT_US_2015_03_01:187759003 SNOMEDCT_US_2015_03_01:269461008 SNOMEDCT_US_2015_03_01:269542007 SNOMEDCT_US_2015_03_01:363406005 SNOMEDCT_US_2015_03_01:93761005 UMLS_CUI:C0007102 disease_ontology A colorectal cancer that is located_in the colon. url:http://www.cancer.gov/dictionary?CdrID=44237 acute perichondritis of pinna A perichondritis of auricle with a sudden onset and a short course. DOID:221 ICD9CM:380.01 SNOMEDCT_US_2015_03_01:45855004 UMLS_CUI:C0155390 acute perichondritis of pinna (disorder) disease_ontology A perichondritis of auricle with a sudden onset and a short course. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm SNOMEDCT_2005_07_31:45855004 acute perichondritis of pinna (disorder) factor XIII deficiency DOID:2211 Factor XIII deficiency disease (disorder) Hereditary factor XIII deficiency disease (disorder) MSH:D005177 NCI:C98941 OMIM mapping confirmed by DO. [SN]. OMIM:613225 OMIM:613235 SNOMEDCT_US_2015_03_01:18604004 SNOMEDCT_US_2015_03_01:50189006 UMLS_CUI:C0015530 deficiency, Laki-Lorand factor disease_ontology Hereditary factor XIII deficiency disease (disorder) SNOMEDCT_2005_07_31:50189006 Factor XIII deficiency disease (disorder) SNOMEDCT_2005_07_31:18604004 MTHICD9_2006:286.3 deficiency, Laki-Lorand factor coagulation protein disease DOID:2212 MSH:D020147 UMLS_CUI:C0600503 disease_ontology hemorrhagic disease DOID:2213 Hemorrhagic diathesis Hemorrhagic disease ICD10CM:D69.9 ICD9CM:287.9 MSH:D006474 SNOMEDCT_US_2015_03_01:191327000 SNOMEDCT_US_2015_03_01:191331006 SNOMEDCT_US_2015_03_01:191437009 SNOMEDCT_US_2015_03_01:268884000 UMLS_CUI:C0019087 disease_ontology Hemorrhagic diathesis MTHICD9_2006:287.9 Hemorrhagic disease SNOMEDCT_2005_07_31:268884000 inherited blood coagulation disease DOID:2214 MSH:D025861 UMLS_CUI:C0852077 disease_ontology factor VII deficiency DOID:2215 Factor VII deficiency Factor VII deficiency (disorder) ICD10CM:D68.2 MSH:D005168 SNOMEDCT_US_2015_03_01:154820003 SNOMEDCT_US_2015_03_01:37193007 UMLS_CUI:C0015503 deficiency, stable disease_ontology Factor VII deficiency SNOMEDCT_2005_07_31:154820003 Factor VII deficiency (disorder) SNOMEDCT_2005_07_31:37193007 MTHICD9_2006:286.3 deficiency, stable factor V deficiency DOID:2216 Factor V deficiency (disorder) Factor V deficiency [Ambiguous] Hereditary hypoproaccelerinaemia ICD10CM:D68.2 Labile factor deficiency (disorder) MSH:D005166 NCI:C98938 OMIM mapping confirmed by DO. [SN]. OMIM:227400 Proaccelerin deficiency (disorder) SNOMEDCT_US_2015_03_01:191284007 SNOMEDCT_US_2015_03_01:365157004 SNOMEDCT_US_2015_03_01:366160003 SNOMEDCT_US_2015_03_01:4320005 SNOMEDCT_US_2015_03_01:88776002 UMLS_CUI:C0015499 deficiency, labile disease_ontology MTHICD9_2006:286.3 deficiency, labile Factor V deficiency (disorder) SNOMEDCT_2005_07_31:4320005 Factor V deficiency [Ambiguous] SNOMEDCT_2005_07_31:191284007 Hereditary hypoproaccelerinaemia SNOMEDCT_2005_07_31:88776002 Proaccelerin deficiency (disorder) SNOMEDCT_2005_07_31:365157004 Labile factor deficiency (disorder) SNOMEDCT_2005_07_31:366160003 Bernard-Soulier syndrome Bernard - Soulier thrombopathy Bernard Soulier syndrome DOID:2217 Giant platelet syndrome (disorder) Hemorrhagic dystrophic thrombocytopenia MSH:D001606 NCI:C84595 OMIM mapping confirmed by DO. [SN]. OMIM:153670 OMIM:231200 SNOMEDCT_US_2015_03_01:191309003 SNOMEDCT_US_2015_03_01:234478007 SNOMEDCT_US_2015_03_01:54569005 Thrombopathy, Bernard-Soulier UMLS_CUI:C0005129 disease_ontology MTHICD9_2006:287.1 Thrombopathy, Bernard-Soulier Hemorrhagic dystrophic thrombocytopenia SNOMEDCT_2005_07_31:54569005 Bernard - Soulier thrombopathy SNOMEDCT_2005_07_31:191309003 Giant platelet syndrome (disorder) SNOMEDCT_2005_07_31:234478007 Bernard Soulier syndrome CSP2005:4001-0130 blood platelet disease DOID:2218 MSH:D001791 SNOMEDCT_US_2015_03_01:22716005 Thrombocytopathy UMLS_CUI:C0005818 disease_ontology platelet disorder MTHICD9_2006:287.1 Thrombocytopathy CSP2005:0446-1413 platelet disorder Glanzmann's thrombasthenia DOID:2219 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect ICD10CM:D69.1 MSH:D013915 NCI:C61249 OMIM mapping confirmed by DO. [LS]. OMIM:273800 SNOMEDCT_US_2015_03_01:191310008 SNOMEDCT_US_2015_03_01:30577005 SNOMEDCT_US_2015_03_01:32942005 Thrombocytasthenia UMLS_CUI:C0040015 disease_ontology MTHICD9_2006:287.1 Thrombocytasthenia Glycoprotein IIb/IIIa defect SNOMEDCT_2005_07_31:191310008 perichondritis of auricle A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. DOID:222 ICD10CM:H61.0 ICD10CM:H61.00 ICD10CM:H61.009 ICD9CM:380.0 ICD9CM:380.00 Perichondritis and chondritis of pinna Perichondritis of pinna Perichondritis of pinna (disorder) Perichondritis of pinna NOS (disorder) Perichondritis of pinna, unspecified SNOMEDCT_US_2015_03_01:155210008 SNOMEDCT_US_2015_03_01:194194008 SNOMEDCT_US_2015_03_01:194197001 SNOMEDCT_US_2015_03_01:236871000119109 SNOMEDCT_US_2015_03_01:34129005 UMLS_CUI:C0155389 Unspecified perichondritis of pinna (disorder) disease_ontology ICD9CM_2006:380.00 Perichondritis of pinna, unspecified Perichondritis of pinna SNOMEDCT_2005_07_31:155210008 Perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:34129005 SNOMEDCT_2005_07_31:194194008 Unspecified perichondritis of pinna (disorder) A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. url:http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm Perichondritis of pinna NOS (disorder) SNOMEDCT_2005_07_31:194197001 ICD9CM_2006:380.0 Perichondritis and chondritis of pinna factor X deficiency DOID:2222 Factor X deficiency (disorder) MSH:D005171 SNOMEDCT_US_2015_03_01:76642003 UMLS_CUI:C0015519 disease, Stuart-Prower disease_ontology Factor X deficiency (disorder) SNOMEDCT_2005_07_31:76642003 MTHICD9_2006:286.3 disease, Stuart-Prower platelet storage pool deficiency DOID:2223 Dense body defect (disorder) MSH:D010981 Platelet dense granule deficiency (disorder) Platelet storage pool defect SNOMEDCT_US_2015_03_01:128099001 SNOMEDCT_US_2015_03_01:129655003 SNOMEDCT_US_2015_03_01:234474009 SNOMEDCT_US_2015_03_01:9417000 UMLS_CUI:C0032197 disease_ontology Platelet storage pool defect SNOMEDCT_2005_07_31:128099001 Dense body defect (disorder) SNOMEDCT_2005_07_31:234474009 Platelet dense granule deficiency (disorder) SNOMEDCT_2005_07_31:9417000 hemorrhagic thrombocythemia A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. DOID:2224 Essential thrombocythaemia ICD10CM:D47.3 ICD9CM:238.71 MSH:D013920 NCI:C3407 OMIM:187950 OMIM:300331 OMIM:601977 OMIM:614521 ORDO:3318 ORDO:71493 SNOMEDCT_US_2015_03_01:109994006 SNOMEDCT_US_2015_03_01:128844009 SNOMEDCT_US_2015_03_01:189508006 SNOMEDCT_US_2015_03_01:189513005 SNOMEDCT_US_2015_03_01:189514004 SNOMEDCT_US_2015_03_01:191333009 SNOMEDCT_US_2015_03_01:234499005 SNOMEDCT_US_2015_03_01:307652003 SNOMEDCT_US_2015_03_01:65471002 UMLS_CUI:C0040028 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology familial thrombocytosis hereditary thrombocythemia primary Thrombocytosis Essential thrombocythaemia SNOMEDCT_2005_07_31:189513005 NCI2004_11_17:C3407 primary Thrombocytosis A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential megakaryocytic tumor DOID:2225 NCI:C7066 UMLS_CUI:C1334687 disease_ontology chronic myeloproliferative disease A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. CMPD CMPD, U DOID:2226 DOID:6002 ICD10CM:D47.1 NCI:C4345 SNOMEDCT_US_2015_03_01:109993000 SNOMEDCT_US_2015_03_01:115248004 SNOMEDCT_US_2015_03_01:128842008 SNOMEDCT_US_2015_03_01:20921005 UMLS_CUI:C1292778 disease_ontology A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. url:http://www.cancer.gov/cancertopics/types/myeloproliferative CMPD NCI2004_11_17:C4345 CMPD, U NCI2004_11_17:C27350 malignant neoplasm of lymphatic and hemopoietic tissue DOID:2227 disease_ontology true thrombocytosis A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. DOID:2228 MSH:D013922 NCI:C35530 Platelet count above reference range SNOMEDCT_US_2015_03_01:142970009 SNOMEDCT_US_2015_03_01:165557006 SNOMEDCT_US_2015_03_01:415115007 SNOMEDCT_US_2015_03_01:6631009 SNOMEDCT_US_2015_03_01:79574003 THROMBOCYTHEMIA Thrombocythaemia UMLS_CUI:C0836924 disease_ontology Platelet count above reference range SNOMEDCT_2005_07_31:415115007 A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. url:http://en.wikipedia.org/wiki/Thrombocytosis url:http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx SNOMEDCT_2005_07_31:142970009 Thrombocythaemia MTH:NOCODE THROMBOCYTHEMIA factor XI deficiency Congenital factor XI deficiency DOID:2229 Hereditary factor XI deficiency disease (disorder) ICD10CM:D68.1 ICD9CM:286.2 MSH:D005173 NCI:C84705 OMIM mapping confirmed by DO. [SN]. OMIM:612416 Rosenthal's disease SNOMEDCT_US_2015_03_01:49762007 UMLS_CUI:C0015523 disease_ontology hemophilia C plasma thromboplastin antecedent deficiency Congenital factor XI deficiency ICD9CM_2006:286.2 Hereditary factor XI deficiency disease (disorder) SNOMEDCT_2005_07_31:49762007 MTHICD9_2006:286.2 Rosenthal's disease basilar artery insufficiency Basilar artery syndrome Basilar artery syndrome (disorder) DOID:223 ICD9CM:435.0 MSH:D014715 NCI:C34413 SNOMEDCT_US_2015_03_01:195197005 SNOMEDCT_US_2015_03_01:64009001 UMLS_CUI:C0004812 disease_ontology Basilar artery syndrome ICD9CM_2006:435.0 Basilar artery syndrome NCI2004_11_17:C34413 Basilar artery syndrome SNOMEDCT_2005_07_31:195197005 Basilar artery syndrome (disorder) SNOMEDCT_2005_07_31:64009001 hemophilia DOID:2230 Haemophilia Hemophilia (disorder) Hemophilia NOS disease_ontology hemophilia true NCI2004_11_17:C3093 hemophilia Hemophilia (disorder) SNOMEDCT_2005_07_31:90935002 Haemophilia SNOMEDCT_2005_07_31:154816002 Hemophilia NOS MTHICD9_2006:286.0 factor XII deficiency DOID:2231 Factor XII deficiency disease (disorder) Hageman Factor deficiency MSH:D005175 OMIM mapping confirmed by DO. [SN]. OMIM:234000 SNOMEDCT_US_2015_03_01:46981006 UMLS_CUI:C0015526 deficiency, Hageman disease_ontology Factor XII deficiency disease (disorder) SNOMEDCT_2005_07_31:46981006 MTHICD9_2006:286.3 deficiency, Hageman Hageman Factor deficiency NCI2004_11_17:C26770 coagulation factor deficiency DOID:2232 disease_ontology true partial epilepsy with impairment of consciousness DOID:2233 disease_ontology true focal epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. DOID:2234 MSH:D004828 SNOMEDCT_US_2015_03_01:155041001 SNOMEDCT_US_2015_03_01:155044009 SNOMEDCT_US_2015_03_01:193007004 SNOMEDCT_US_2015_03_01:230381009 SNOMEDCT_US_2015_03_01:29753000 SNOMEDCT_US_2015_03_01:67139004 UMLS_CUI:C0014547 disease_ontology localisation-related epilepsy partial epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Focal_epilepsy url:http://www.aafp.org/afp/2001/0701/p91.html SNOMEDCT_2005_07_31:155044009 localisation-related epilepsy prothrombin deficiency hypoprothrombinemia DOID:2235 Factor II deficiency MSH:D007020 OMIM mapping confirmed by DO. [SN]. OMIM:613679 UMLS_CUI:C0020640 disease_ontology Factor II deficiency NCI2004_11_17:C26799 congenital afibrinogenemia DOID:2236 Factor I deficiency Fibrinogen deficiency ICD10CM:D68.2 MSH:D000347 NCI:C26692 NCI:C98130 OMIM mapping confirmed by DO. [SN]. OMIM:202400 SNOMEDCT_US_2015_03_01:278504009 SNOMEDCT_US_2015_03_01:29718007 SNOMEDCT_US_2015_03_01:359727008 UMLS_CUI:C0001733 disease_ontology Fibrinogen deficiency SNOMEDCT_2005_07_31:29718007 Factor I deficiency NCI2004_11_17:C26692 hepatitis DOID:12352 DOID:14551 DOID:1706 DOID:1707 DOID:2237 DOID:2238 ICD10CM:K73.9 ICD9CM:570 ICD9CM:571.4 ICD9CM:571.40 ICD9CM:571.41 MSH:D006521 NCI:C82978 SNOMEDCT_US_2015_03_01:155808003 SNOMEDCT_US_2015_03_01:155813004 SNOMEDCT_US_2015_03_01:197268000 SNOMEDCT_US_2015_03_01:197278002 SNOMEDCT_US_2015_03_01:197286002 SNOMEDCT_US_2015_03_01:197288001 SNOMEDCT_US_2015_03_01:197289009 SNOMEDCT_US_2015_03_01:266536009 SNOMEDCT_US_2015_03_01:266539002 SNOMEDCT_US_2015_03_01:41889008 SNOMEDCT_US_2015_03_01:68784009 SNOMEDCT_US_2015_03_01:76783007 UMLS_CUI:C0001308 UMLS_CUI:C0019189 UMLS_CUI:C0149519 acute and subacute liver necrosis acute and subacute liver necrosis (disorder) acute and subacute liver necrosis NOS (disorder) acute and subacute necrosis of liver acute hepatitis acute hepatitis (disorder) acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis disease_ontology SNOMEDCT_2005_07_31:197268000 acute and subacute liver necrosis (disorder) SNOMEDCT_2005_07_31:197278002 acute and subacute liver necrosis NOS (disorder) SNOMEDCT_2005_07_31:37871000 acute hepatitis (disorder) SNOMEDCT_2005_07_31:155808003 SNOMEDCT_2005_07_31:266536009 acute/subac. necrosis of liver SNOMEDCT_2005_07_31:155813004 SNOMEDCT_2005_07_31:266539002 chronic persistent hepatitis ICD9CM_2006:570 acute and subacute necrosis of liver granulomatous hepatitis DOID:2239 Granulomatous hepatitis (disorder) NCI:C27015 SNOMEDCT_US_2015_03_01:86514004 UMLS_CUI:C0235369 disease_ontology Granulomatous hepatitis (disorder) SNOMEDCT_2005_07_31:86514004 transient cerebral ischemia DOID:224 DOID:2315 ICD10CM:G45.9 ICD9CM:435.8 MSH:D002546 NCI:C50781 SNOMEDCT_US_2015_03_01:155404005 SNOMEDCT_US_2015_03_01:195196001 SNOMEDCT_US_2015_03_01:195207009 SNOMEDCT_US_2015_03_01:266257000 SNOMEDCT_US_2015_03_01:266314007 SNOMEDCT_US_2015_03_01:313242003 SNOMEDCT_US_2015_03_01:38609002 TIA TIA - Transient ischaemic attack TRANSIENT ISCHEMIC ATTACK Transient cerebral ischaemia Transient cerebral ischaemia NOS Transient cerebral ischemia (disorder) [Ambiguous] Transient ischemic attacks (disorder) UMLS_CUI:C0007787 UMLS_CUI:C0155728 disease_ontology transient ischemic attack MTH:NOCODE TRANSIENT ISCHEMIC ATTACK SNOMEDCT_2005_07_31:313242003 Transient ischemic attacks (disorder) SNOMEDCT_2005_07_31:38609002 Transient cerebral ischemia (disorder) [Ambiguous] CSP2005:4001-0136 MTHICD9_2006:435.9 TIA SNOMEDCT_2005_07_31:155404005 SNOMEDCT_2005_07_31:195196001 SNOMEDCT_2005_07_31:266314007 Transient cerebral ischaemia SNOMEDCT_2005_07_31:195207009 Transient cerebral ischaemia NOS SNOMEDCT_2005_07_31:266257000 TIA - Transient ischaemic attack mild recurrent major depression DOID:2242 Major depressive disorder, recurrent episode, mild degree Mild recurrent major depression (disorder) disease_ontology recurrent major depressive episodes, mild (disorder) true SNOMEDCT_2005_07_31:191610000 recurrent major depressive episodes, mild (disorder) ICD9CM_2006:296.31 Major depressive disorder, recurrent episode, mild degree Mild recurrent major depression (disorder) SNOMEDCT_2005_07_31:40379007 spondylosis An bone structure disease that involves degeneration between vertebra located_in vertebral column. DOID:2247 DOID:8708 DOID:8709 DOID:8888 DOID:8905 DOID:9949 ICD10CM:M47 ICD10CM:M47.9 ICD9CM:721.9 Lumbar spondylosis with myelopathy (disorder) MSH:D055009 SNOMEDCT_US_2015_03_01:156622007 SNOMEDCT_US_2015_03_01:156628006 SNOMEDCT_US_2015_03_01:202701004 SNOMEDCT_US_2015_03_01:202704007 SNOMEDCT_US_2015_03_01:267973008 SNOMEDCT_US_2015_03_01:268074002 SNOMEDCT_US_2015_03_01:268075001 SNOMEDCT_US_2015_03_01:8847002 Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Spondylosis with myelopathy (disorder) Thoracic or lumbar spondylosis with myelopathy UMLS_CUI:C0038019 disease_ontology lumbosacral spondylosis without myelopathy spondylosis with myelopathy An bone structure disease that involves degeneration between vertebra located_in vertebral column. url:http://en.wikipedia.org/wiki/Spondylosis url:http://www.mayoclinic.com/health/cervical-spondylosis/DS00697 url:http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm url:http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means url:http://www.spineuniverse.com/conditions/spondylosis/spondylosis MTHICD9_2006:721.41 Spondylogenic compression of thoracic spinal cord MTHICD9_2006:721.42 Spondylogenic compression of lumbar spinal cord Lumbar spondylosis with myelopathy (disorder) SNOMEDCT_2005_07_31:67437007 SNOMEDCT_2005_07_31:79232007 Spondylosis with myelopathy (disorder) syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. DOID:225 MSH:D013577 NCI:C28193 SNOMEDCT_US_2015_03_01:64572001 UMLS_CUI:C0039082 disease_ontology A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome hypertrophic elongation of cervix DOID:2251 ICD10CM:N88.4 ICD9CM:622.6 SNOMEDCT_US_2015_03_01:198353000 SNOMEDCT_US_2015_03_01:35863000 UMLS_CUI:C0020561 disease_ontology hypertrophic elongation of cervix (disorder) hypertrophic elongation of cervix (disorder) [Ambiguous] SNOMEDCT_2005_07_31:35863000 hypertrophic elongation of cervix (disorder) [Ambiguous] SNOMEDCT_2005_07_31:198353000 hypertrophic elongation of cervix (disorder) cervix disease DOID:2253 MSH:D002577 NCI:C40241 SNOMEDCT_US_2015_03_01:156010005 SNOMEDCT_US_2015_03_01:156014001 SNOMEDCT_US_2015_03_01:266661001 SNOMEDCT_US_2015_03_01:286988004 SNOMEDCT_US_2015_03_01:63339007 UMLS_CUI:C0007867 disease_ontology short rib-polydactyly syndrome DOID:2255 disease_ontology true osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone. Cartilage Development disorder Congenital anomaly of cartilage (disorder) DOID:1764 DOID:2256 ICD10CM:Q78.9 ICD9CM:756.4 MSH:D010009 NCI:C34466 NCI:C84978 Osteochondrodysplasia syndrome (disorder) SNOMEDCT_US_2015_03_01:105985007 SNOMEDCT_US_2015_03_01:205510001 SNOMEDCT_US_2015_03_01:205539001 SNOMEDCT_US_2015_03_01:240190009 SNOMEDCT_US_2015_03_01:268350005 SNOMEDCT_US_2015_03_01:378007 SNOMEDCT_US_2015_03_01:67988000 UMLS_CUI:C0008449 UMLS_CUI:C0029422 Unspecified anomaly of cartilage (disorder) chondrodystrophy disease_ontology Osteochondrodysplasia syndrome (disorder) SNOMEDCT_2005_07_31:105985007 SNOMEDCT_2005_07_31:205539001 Unspecified anomaly of cartilage (disorder) Cartilage Development disorder NCI2004_11_17:C34466 Congenital anomaly of cartilage (disorder) SNOMEDCT_2005_07_31:67988000 A bone development disease that results_in defective development of cartilage or bone. url:http://en.wikipedia.org/wiki/Osteochondrodysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx primary Spirochaetales infectious disease DOID:0060034 DOID:2257 Spirochetes infectious disease disease_ontology true Treponema infectious disease DOID:2265 Treponema infection Treponemal disease Treponemal infection Treponemal infectious disease disease_ontology true CSP2005:0368-3344 Treponema infection SNOMEDCT_2005_07_31:76272004 Treponemal disease SNOMEDCT_2005_07_31:186904000 Treponemal infection ankylosis Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. DOID:227 ICD10CM:M24.6 ICD9CM:718.5 ICD9CM:718.50 MSH:D000844 SNOMEDCT_US_2015_03_01:111227009 SNOMEDCT_US_2015_03_01:156559001 SNOMEDCT_US_2015_03_01:156569007 SNOMEDCT_US_2015_03_01:202297005 SNOMEDCT_US_2015_03_01:202323002 SNOMEDCT_US_2015_03_01:36504009 UMLS_CUI:C0003090 disease_ontology Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. url:http://en.wikipedia.org/wiki/Ankylosis oropharyngeal candidiasis A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. DOID:2271 Oropharyngeal Candidiasis disease_ontology oropharyngeal thrush true NCI2004_11_17:C4985 Oropharyngeal Candidiasis A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ vulvovaginal candidiasis A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. Candidal vulvovaginitis Candidal vulvovaginitis (disorder) Candidal vulvovaginitis NOS (disorder) Candidal: [vulvovaginitis NOS] or [cervix] Candidiasis of vulva and vagina DOID:2272 ICD10CM:B37.3 ICD9CM:112.1 MSH:D002181 Monilial vulvovaginitis NCI:C2914 SNOMEDCT_US_2015_03_01:154404004 SNOMEDCT_US_2015_03_01:187009004 SNOMEDCT_US_2015_03_01:266155003 SNOMEDCT_US_2015_03_01:72605008 UMLS_CUI:C0700345 Vulvovaginal Candidiasis disease_ontology Candidal: [vulvovaginitis NOS] or [cervix] SNOMEDCT_2005_07_31:187009004 MTHICD9_2006:112.1 Monilial vulvovaginitis Candidal vulvovaginitis NOS (disorder) SNOMEDCT_2005_07_31:266155003 A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Candidiasis of vulva and vagina ICD9CM_2006:112.1 Candidal vulvovaginitis SNOMEDCT_2005_07_31:154404004 Candidal vulvovaginitis (disorder) SNOMEDCT_2005_07_31:72605008 NCI2004_11_17:C2914 Vulvovaginal Candidiasis vulvovaginitis DOID:2273 ICD10CM:N76.0 MSH:D014848 NCI:C35131 SNOMEDCT_US_2015_03_01:155981006 SNOMEDCT_US_2015_03_01:198215008 SNOMEDCT_US_2015_03_01:266655004 SNOMEDCT_US_2015_03_01:53277000 UMLS_CUI:C0042998 Vulvo-vaginitis disease_ontology SNOMEDCT_2005_07_31:266655004 Vulvo-vaginitis pharyngitis An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as "sore throat". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. DOID:10455 DOID:11586 DOID:11588 DOID:2275 DOID:938 DOID:939 ICD10CM:J02 ICD10CM:J02.9 ICD9CM:462 ICD9CM:472 ICD9CM:478.20 Inflamed throat MSH:D010608 MSH:D010612 NCI:C26850 NCI:C26851 NCI:C34355 Persistent sore throat Pharyngeal disorder Pharyngitis - acute SNOMEDCT_US_2015_03_01:141458004 SNOMEDCT_US_2015_03_01:155502006 SNOMEDCT_US_2015_03_01:155521003 SNOMEDCT_US_2015_03_01:164261009 SNOMEDCT_US_2015_03_01:195654001 SNOMEDCT_US_2015_03_01:195664005 SNOMEDCT_US_2015_03_01:195763009 SNOMEDCT_US_2015_03_01:195784004 SNOMEDCT_US_2015_03_01:195832000 SNOMEDCT_US_2015_03_01:266379007 SNOMEDCT_US_2015_03_01:266383007 SNOMEDCT_US_2015_03_01:27321001 SNOMEDCT_US_2015_03_01:363746003 SNOMEDCT_US_2015_03_01:367427004 SNOMEDCT_US_2015_03_01:37616004 SNOMEDCT_US_2015_03_01:405737000 SNOMEDCT_US_2015_03_01:75860007 Sore throat - chronic UMLS_CUI:C0001344 UMLS_CUI:C0031345 UMLS_CUI:C0031350 UMLS_CUI:C0155824 acute pharyngitis acute sore throat acute sore throat NOS chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat disease_ontology pharyngeal disease An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as "sore throat". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. url:http://en.wikipedia.org/wiki/Pharyngitis url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 Pharyngitis - acute SNOMEDCT_2005_07_31:155502006 SNOMEDCT_2005_07_31:266379007 MTHICD9_2006:462 acute sore throat NOS SNOMEDCT_2005_07_31:155521003 SNOMEDCT_2005_07_31:266383007 chronic pharyn/nasopharyngitis SNOMEDCT_2005_07_31:367427004 acute sore throat NCI2004_11_17:C26850 Pharyngeal disorder ICD9CM_2006:472.1 SNOMEDCT_2005_07_31:155523000 chronic pharyngitis ICD9CM_2006:462 SNOMEDCT_2005_07_31:195654001 acute pharyngitis Inflamed throat SNOMEDCT_2005_07_31:141458004 SNOMEDCT_2005_07_31:139659001 SNOMEDCT_2005_07_31:162389005 Sore throat - chronic Persistent sore throat SNOMEDCT_2005_07_31:275488008 gonadal disease An endocrine system disease that is located_in the gonads. DOID:2277 MSH:D006058 NCI:C26786 UMLS_CUI:C0018050 disease_ontology An endocrine system disease that is located_in the gonads. url:http://semmelweis.hu/belgyogyaszat3/files/2011/05/drigazp-gonaddiseasesenglishiii-publicversion.pdf joint derangement DOID:2279 disease_ontology true hidradenitis suppurativa Acne inversa, familial DOID:2280 Hidradenitis suppurativa Hidradenitis suppurativa (disorder) ICD10CM:L73.2 MSH:D017497 OMIM mapping confirmed by DO. [SN]. OMIM:142690 OMIM:613736 OMIM:613737 SNOMEDCT_US_2015_03_01:156417004 SNOMEDCT_US_2015_03_01:201204008 SNOMEDCT_US_2015_03_01:267866004 SNOMEDCT_US_2015_03_01:59393003 UMLS_CUI:C0162836 disease_ontology Hidradenitis suppurativa SNOMEDCT_2005_07_31:156417004 Hidradenitis suppurativa SNOMEDCT_2005_07_31:201204008 Hidradenitis suppurativa SNOMEDCT_2005_07_31:267866004 Hidradenitis suppurativa MTHICD9_2006:705.83 Hidradenitis suppurativa (disorder) SNOMEDCT_2005_07_31:59393003 hidradenitis DOID:2282 Hidradenitis (disorder) Hydradenitis ICD9CM:705.83 MSH:D016575 NCI:C112190 SNOMEDCT_US_2015_03_01:156417004 SNOMEDCT_US_2015_03_01:201204008 SNOMEDCT_US_2015_03_01:267814008 SNOMEDCT_US_2015_03_01:267866004 SNOMEDCT_US_2015_03_01:69741000 UMLS_CUI:C0085160 disease_ontology Hidradenitis (disorder) SNOMEDCT_2005_07_31:69741000 Hydradenitis SNOMEDCT_2005_07_31:156417004 Hydradenitis SNOMEDCT_2005_07_31:267866004 keratopathy DOID:2283 NCI:C27012 UMLS_CUI:C0235270 disease_ontology capillary lymphangioma DOID:2286 NCI:C27509 SNOMEDCT_US_2015_03_01:445492005 UMLS_CUI:C1333176 cutaneous lymphangioma disease_ontology female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. DOID:229 ICD9CM:629.9 MSH:D005831 SNOMEDCT_US_2015_03_01:156032001 SNOMEDCT_US_2015_03_01:156066005 SNOMEDCT_US_2015_03_01:198486002 SNOMEDCT_US_2015_03_01:244938009 SNOMEDCT_US_2015_03_01:266680004 SNOMEDCT_US_2015_03_01:310789003 SNOMEDCT_US_2015_03_01:38233001 UMLS_CUI:C0017411 disease_ontology A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. url:http://en.wikipedia.org/wiki/Female_reproductive_system url:http://en.wikipedia.org/wiki/Reproductive_system_disease leptospirosis A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. DOID:11348 DOID:2297 Fort Bragg fever ICD10CM:A27 ICD10CM:A27.0 ICD10CM:A27.9 ICD9CM:100 ICD9CM:100.0 ICD9CM:100.9 Leptospiral or spirochetal jaundice Leptospirosis icterohaemorrhagica Leptospirosis icterohemorrhagica Leptospirosis icterohemorrhagica (disorder) MSH:C531728 MSH:D007922 MSH:D014895 NCI:C84825 Rat Catcher's Yellows SNOMEDCT_US_2015_03_01:154391003 SNOMEDCT_US_2015_03_01:186953000 SNOMEDCT_US_2015_03_01:186954006 SNOMEDCT_US_2015_03_01:186958009 SNOMEDCT_US_2015_03_01:186959001 SNOMEDCT_US_2015_03_01:187311001 SNOMEDCT_US_2015_03_01:266213004 SNOMEDCT_US_2015_03_01:398067003 SNOMEDCT_US_2015_03_01:398222003 SNOMEDCT_US_2015_03_01:50574007 SNOMEDCT_US_2015_03_01:69092001 SNOMEDCT_US_2015_03_01:77377001 UMLS_CUI:C0023364 UMLS_CUI:C0043102 Weil's disease Weil's disease (disorder) disease_ontology nanukayami fever spirochetal jaundice CSP2005:0368-3335 spirochetal jaundice SNOMEDCT_2005_07_31:154391003 SNOMEDCT_2005_07_31:266213004 Weil's disease A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. url:http://en.wikipedia.org/wiki/Leptospirosis Leptospirosis icterohemorrhagica (disorder) SNOMEDCT_2005_07_31:398222003 SNOMEDCT_2005_07_31:69092001 ICD9CM_2006:100.0 Leptospirosis icterohemorrhagica Leptospiral or spirochetal jaundice MTHICD9_2006:100.0 SNOMEDCT_2005_07_31:398067003 Weil's disease (disorder) Leptospirosis icterohaemorrhagica SNOMEDCT_2005_07_31:186954006 lateral sclerosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. DOID:230 ICD10CM:G12.29 ICD9CM:335.24 MSH:D016472 OMIM:611637 ORDO:35689 SNOMEDCT_US_2015_03_01:81211007 UMLS_CUI:C0154682 Xref MGI. adult-onset primary lateral sclerosis disease_ontology primary lateral sclerosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. url:http://en.wikipedia.org/wiki/Primary_lateral_sclerosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract ICD9CM_2006:335.24 primary lateral sclerosis spondylolysis A bone structure disease that involves a defect located_in lumbar vertebral column. DOID:2300 ICD10CM:M43.0 ICD10CM:M43.00 MSH:D013169 NCI:C35034 SNOMEDCT_US_2015_03_01:203688008 SNOMEDCT_US_2015_03_01:240221008 UMLS_CUI:C0038018 disease_ontology A bone structure disease that involves a defect located_in lumbar vertebral column. url:http://emedicine.medscape.com/article/395916-overview url:http://en.wikipedia.org/wiki/Spondylolysis url:http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053 url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm atrophy of prostate Atrophy of prostate (disorder) DOID:2301 ICD9CM:602.2 SNOMEDCT_US_2015_03_01:29524003 UMLS_CUI:C0156296 disease_ontology Atrophy of prostate (disorder) SNOMEDCT_2005_07_31:29524003 stereotypic movement disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. DOID:2303 ICD10CM:F98.4 ICD9CM:307.3 MSH:D019956 SNOMEDCT_US_2015_03_01:191993004 SNOMEDCT_US_2015_03_01:5507002 Stereotyped repetitive movements NOS (finding) Stereotypy habit disorder UMLS_CUI:C0038273 disease_ontology SNOMEDCT_2005_07_31:5507002 Stereotypy habit disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. url:http://www.minddisorders.com/Py-Z/Stereotypic-movement-disorder.html SNOMEDCT_2005_07_31:191993004 Stereotyped repetitive movements NOS (finding) motor neuron disease A neurodegenerative disease that is located_in the motor neurones. DOID:231 ICD10CM:G12.2 ICD10CM:G12.20 ICD9CM:335.2 MSH:D016472 SNOMEDCT_US_2015_03_01:155015007 SNOMEDCT_US_2015_03_01:192888001 SNOMEDCT_US_2015_03_01:192889009 SNOMEDCT_US_2015_03_01:192890000 SNOMEDCT_US_2015_03_01:37340000 UMLS_CUI:C0085084 disease_ontology A neurodegenerative disease that is located_in the motor neurones. url:http://en.wikipedia.org/wiki/Motor_neuron_disease nocardiosis An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. DOID:2312 ICD10CM:A43 ICD10CM:A43.9 MSH:D009617 Nocardia infectious disease SNOMEDCT_US_2015_03_01:186404005 SNOMEDCT_US_2015_03_01:187337003 SNOMEDCT_US_2015_03_01:29227009 UMLS_CUI:C0028242 disease_ontology An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. url:http://emedicine.medscape.com/article/224123-clinical url:http://en.wikipedia.org/wiki/Nocardiosis primary Actinomycetales infectious disease Actinomycetales infection DOID:2313 disease_ontology true Actinomycetales infection CSP2005:0368-2354 malt worker's lung An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. DOID:2314 ICD10CM:J67.4 ICD9CM:495.4 Malt workers' lung Malt-workers' lung (disorder) SNOMEDCT_US_2015_03_01:25897000 UMLS_CUI:C0155888 alveolitis due to aspergillus clavatus disease_ontology malt worker lung An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. url:http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm Malt-workers' lung (disorder) SNOMEDCT_2005_07_31:25897000 ICD9CM_2006:495.4 Malt workers' lung brain ischemia DOID:2316 Ischaemic encephalopathy Ischemic encephalopathy (disorder) MSH:D002545 SNOMEDCT_US_2015_03_01:11890005 SNOMEDCT_US_2015_03_01:193049009 SNOMEDCT_US_2015_03_01:389100007 UMLS_CUI:C0007786 disease_ontology Ischaemic encephalopathy SNOMEDCT_2005_07_31:193049009 Ischemic encephalopathy (disorder) SNOMEDCT_2005_07_31:389100007 Ischaemic encephalopathy SNOMEDCT_2005_07_31:11890005 obstructive lung disease DOID:2320 MSH:D008173 UMLS_CUI:C0600260 disease_ontology respiratory airway obstruction CSP2005:2596-8463 respiratory airway obstruction dyspepsia DOID:2321 Dyspepsia, indigestion NOS ICD10CM:K30 ICD10CM:R10.13 MSH:D004415 NCI:C26756 SNOMEDCT_US_2015_03_01:139299007 SNOMEDCT_US_2015_03_01:155722007 SNOMEDCT_US_2015_03_01:162031009 SNOMEDCT_US_2015_03_01:196752002 SNOMEDCT_US_2015_03_01:249510006 SNOMEDCT_US_2015_03_01:266505001 SNOMEDCT_US_2015_03_01:87548005 UMLS_CUI:C0013395 disease_ontology indigestion Dyspepsia, indigestion NOS SNOMEDCT_2005_07_31:266505001 CSP2005:1249-7609 indigestion prostate non-neoplastic disease DOID:2323 disease_ontology true coxsackie meningitis An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. Coxsackie meningitis (disorder) Coxsackie viral meningitis DOID:2324 Meningitis due to coxsackie virus disease_ontology true An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. url:http://emedicine.medscape.com/article/215241-overview url:http://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html# Coxsackie viral meningitis SNOMEDCT_2005_07_31:186487000 ICD9CM_2006:047.0 Meningitis due to coxsackie virus Coxsackie meningitis (disorder) SNOMEDCT_2005_07_31:111878007 enterovirus meningitis DOID:2325 disease_ontology true gastroenteritis A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. DOID:2326 DOID:4094 DOID:5269 ICD10CM:K52.9 MSH:D005759 NCI:C34632 SNOMEDCT_US_2015_03_01:154278002 SNOMEDCT_US_2015_03_01:197010007 SNOMEDCT_US_2015_03_01:25374005 SNOMEDCT_US_2015_03_01:266179001 UMLS_CUI:C0017160 cholera morbus disease_ontology infectious colitis, enteritis and gastroenteritis A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html viral gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. DOID:2327 NCI:C27184 SNOMEDCT_US_2015_03_01:285344007 UMLS_CUI:C0563238 Viral Gastritis Viral gastritis (disorder) disease_ontology SNOMEDCT_2005_07_31:285344007 Viral gastritis (disorder) A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html NCI2004_11_17:C27184 Viral Gastritis astrovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. DOID:2328 disease_ontology true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf Rotavirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. DOID:2329 Enteritis due to rotavirus (disorder) disease_ontology rotavirus enteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm url:http://www.cdc.gov/rotavirus/about_rotavirus.htm Enteritis due to rotavirus (disorder) SNOMEDCT_2005_07_31:186150001 ocular tuberculosis DOID:233 Tuberculosis of eye Tuberculosis of eye (disorder) Tuberculosis of eye NOS (disorder) Tuberculosis of eye, unspecified examination disease_ontology true ICD9CM_2006:017.30 Tuberculosis of eye, unspecified examination SNOMEDCT_2005_07_31:49107007 Tuberculosis of eye (disorder) SNOMEDCT_2005_07_31:186268009 Tuberculosis of eye NOS (disorder) ICD9CM_2006:017.3 Tuberculosis of eye metastatic carcinoma A carcinoma that is able to grow at sites distant from the primary site of origin. DOID:2334 carcinoma, metastatic (morphologic abnormality) carcinoma, metastatic, NOS (morphologic abnormality) disease_ontology metastatic carcinoma true SNOMEDCT_2005_07_31:154576004 metastatic carcinoma SNOMEDCT_2005_07_31:189550006 carcinoma, metastatic, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:79282002 carcinoma, metastatic (morphologic abnormality) A carcinoma that is able to grow at sites distant from the primary site of origin. url:http://en.wikipedia.org/wiki/Metastatic_carcinoma SNOMEDCT_2005_07_31:269624009 metastatic carcinoma mandibular cancer A jaw cancer and mandibular disease that affects your lower jawbone. DOID:12408 DOID:2338 ICD10CM:C41.1 ICD9CM:170.1 MSH:D008339 NCI:C35178 SNOMEDCT_US_2015_03_01:126551000 SNOMEDCT_US_2015_03_01:187915001 SNOMEDCT_US_2015_03_01:448668007 UMLS_CUI:C0024694 UMLS_CUI:C0153511 disease_ontology malignant neoplasm of inferior maxilla malignant neoplasm of lower Jaw bone malignant neoplasm of mandible mandible cancer mandibular neoplasm neoplasm of mandible A jaw cancer and mandibular disease that affects your lower jawbone. url:http://www.ehow.com/facts_5891679_treatment-cancer-mandible.html NCI2004_11_17:C35178 malignant neoplasm of lower Jaw bone MTHICD9_2006:170.1 malignant neoplasm of inferior maxilla SNOMEDCT_2005_07_31:126551000 neoplasm of mandible Crouzon syndrome A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. Craniofacial Dysostosis Crouzon's disease DOID:2339 ICD10CM:Q75.1 MSH:D003394 NCI:C84653 OMIM mapping confirmed by DO. [SN]. OMIM:123500 SNOMEDCT_US_2015_03_01:28861008 UMLS_CUI:C0010273 disease_ontology CSP2005:0725-9662 Crouzon's disease A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. url:http://emedicine.medscape.com/article/942989-overview url:http://en.wikipedia.org/wiki/Crouzon_syndrome url:http://ghr.nlm.nih.gov/condition/crouzon-syndrome url:http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm url:http://www.faces-cranio.org/Disord/Crouzon.htm colon adenocarcinoma A colon carcinoma that derives_from epithelial cells of glandular origin. Colonic adenocarcinoma DOID:234 NCI:C4349 SNOMEDCT_US_2015_03_01:255082000 UMLS_CUI:C0338106 adenocarcinoma of colon adenocarcinoma of the colon disease_ontology A colon carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Colonic adenocarcinoma NCI2004_11_17:C4349 SNOMEDCT_2005_07_31:255082000 adenocarcinoma of colon craniosynostosis A synostosis that results_in premature fusion located_in skull. DOID:2340 ICD10CM:Q75.0 MSH:D003398 NCI:C84655 OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314 OMIM:615529 ORDO:1531 Premature closure of cranial sutures SNOMEDCT_US_2015_03_01:205411004 SNOMEDCT_US_2015_03_01:205414007 SNOMEDCT_US_2015_03_01:57219006 UMLS_CUI:C0010278 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. disease_ontology A synostosis that results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Craniosynostosis url:http://www.chw.org/display/router.asp?DocID=22502 url:http://www.mayoclinic.com/health/craniosynostosis/DS00959 url:http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm MTHICD9_2006:756.0 Premature closure of cranial sutures polyclonal hypergammaglobulinemia DOID:2344 ICD10CM:D89.0 ICD9CM:273.0 NCI:C35885 Polyclonal hypergammaglobulinemia Polyclonal hypergammaglobulinemia (disorder) Polyclonal hypergammaglobulinemia NOS (disorder) SNOMEDCT_US_2015_03_01:190808009 SNOMEDCT_US_2015_03_01:190811005 UMLS_CUI:C0154254 disease_ontology NCI2004_11_17:C35885 Polyclonal hypergammaglobulinemia Polyclonal hypergammaglobulinemia NOS (disorder) SNOMEDCT_2005_07_31:190811005 Polyclonal hypergammaglobulinemia (disorder) SNOMEDCT_2005_07_31:190808009 plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. DOID:2345 ICD9CM:273.8 SNOMEDCT_US_2015_03_01:190822009 SNOMEDCT_US_2015_03_01:190825006 UMLS_CUI:C0029594 disease_ontology An inherited metabolic disorder that involves plasma protein metabolism malfunction. url:http://en.wikipedia.org/wiki/Blood_protein monoclonal paraproteinemia DOID:2346 ICD9CM:273.1 Monoclonal Paraproteinemia Monoclonal paraproteinaemia Monoclonal paraproteinemia (disorder) NCI:C35878 SNOMEDCT_US_2015_03_01:190812003 SNOMEDCT_US_2015_03_01:267440005 UMLS_CUI:C0026471 disease_ontology Monoclonal paraproteinemia (disorder) SNOMEDCT_2005_07_31:267440005 Monoclonal paraproteinaemia SNOMEDCT_2005_07_31:190812003 Monoclonal Paraproteinemia NCI2004_11_17:C35878 generalized atherosclerosis DOID:2347 Generalised atherosclerosis Generalized and unspecified atherosclerosis Generalized atherosclerosis (disorder) ICD10CM:I70.91 ICD9CM:440.9 NCI:C35767 SNOMEDCT_US_2015_03_01:367108003 SNOMEDCT_US_2015_03_01:39823006 UMLS_CUI:C0017327 disease_ontology Generalized and unspecified atherosclerosis ICD9CM_2006:440.9 Generalised atherosclerosis SNOMEDCT_2005_07_31:367108003 Generalized atherosclerosis (disorder) SNOMEDCT_2005_07_31:39823006 arteriosclerotic cardiovascular disease Arteriosclerotic Cardiovascular disease Arteriosclerotic cardiovascular disease Arteriosclerotic cardiovascular disease, NOS Atherosclerotic Cardiovascular disease Atherosclerotic cardiovascular disease Cardiovascular arteriosclerosis unspecified (disorder) DOID:2348 ICD10CM:I25.1 ICD10CM:I70 ICD9CM:440 MSH:D050197 NCI:C34403 NCI:C35768 NCI:C35771 SNOMEDCT_US_2015_03_01:155382007 SNOMEDCT_US_2015_03_01:155414001 SNOMEDCT_US_2015_03_01:194848007 SNOMEDCT_US_2015_03_01:195121002 SNOMEDCT_US_2015_03_01:195251000 SNOMEDCT_US_2015_03_01:266318005 SNOMEDCT_US_2015_03_01:38716007 SNOMEDCT_US_2015_03_01:39468009 UMLS_CUI:C0004153 UMLS_CUI:C3665365 disease_ontology Cardiovascular arteriosclerosis unspecified (disorder) SNOMEDCT_2005_07_31:195121002 Atherosclerotic cardiovascular disease SNOMEDCT_2005_07_31:195251000 Atherosclerotic Cardiovascular disease NCI2004_11_17:C35771 Arteriosclerotic cardiovascular disease MTHICD9_2006:429.2 Arteriosclerotic Cardiovascular disease NCI2004_11_17:C34403 Arteriosclerotic cardiovascular disease, NOS SNOMEDCT_2005_07_31:39468009 arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. Arteriosclerosis (morphologic abnormality) Arteriosclerosis NOS Arteriosclerotic vascular disease (disorder) Arteriosclerotic vascular disease NOS CSP:0571-2299 DOID:2349 ICD10CM:I70 MSH:D001161 NCI:C34398 SNOMEDCT_US_2015_03_01:107671003 SNOMEDCT_US_2015_03_01:155414001 SNOMEDCT_US_2015_03_01:155418003 SNOMEDCT_US_2015_03_01:195251000 SNOMEDCT_US_2015_03_01:195257001 SNOMEDCT_US_2015_03_01:266318005 SNOMEDCT_US_2015_03_01:28960008 SNOMEDCT_US_2015_03_01:72092001 UMLS_CUI:C0003850 disease_ontology Arteriosclerotic vascular disease (disorder) SNOMEDCT_2005_07_31:72092001 Arteriosclerosis (morphologic abnormality) SNOMEDCT_2005_07_31:28960008 Arteriosclerotic vascular disease NOS SNOMEDCT_2005_07_31:155418003 Arteriosclerosis NOS SNOMEDCT_2005_07_31:155414001 Arteriosclerosis NOS SNOMEDCT_2005_07_31:266318005 An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. url:http://en.wikipedia.org/wiki/Arteriosclerosis colonic benign neoplasm An intestinal benign neoplasm that is located_in the colon. Colonic Mass Colonic tumor DOID:235 MSH:D003110 NCI:C2953 NCI:C37904 SNOMEDCT_US_2015_03_01:126838000 UMLS_CUI:C0009375 colon neoplasm disease_ontology neoplasm of colon (disorder) Colonic Mass NCI2004_11_17:C37904 An intestinal benign neoplasm that is located_in the colon. url:http://en.wikipedia.org/wiki/Benign_tumor Colonic tumor NCI2004_11_17:C2953 SNOMEDCT_2005_07_31:126838000 neoplasm of colon (disorder) CSP2005:2010-0360 colon neoplasm iron overload DOID:2350 Iron overload (disorder) disease_ontology true Iron overload (disorder) SNOMEDCT_2005_07_31:60737008 iron metabolism disease DOID:2351 ICD10CM:E83.1 ICD10CM:E83.10 ICD9CM:275.0 Iron disorder MSH:D019189 SNOMEDCT_US_2015_03_01:154751003 SNOMEDCT_US_2015_03_01:190851008 SNOMEDCT_US_2015_03_01:267504005 SNOMEDCT_US_2015_03_01:30913008 UMLS_CUI:C0012715 disease_ontology disorder of iron metabolism disorder of iron metabolism (disorder) disorder of iron metabolism NOS (disorder) iron disorder CSP2005:1630-2859 iron disorder SNOMEDCT_2005_07_31:190851008 disorder of iron metabolism NOS (disorder) ICD9CM_2006:275.0 disorder of iron metabolism SNOMEDCT_2005_07_31:30913008 disorder of iron metabolism (disorder) Iron disorder SNOMEDCT_2005_07_31:267504005 Iron disorder SNOMEDCT_2005_07_31:154751003 hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. DOID:2352 Haemochromatosis ICD10CM:E83.11 ICD10CM:E83.110 ICD10CM:E83.119 MSH:D006432 NCI:C84481 OMIM:231100 OMIM:235200 OMIM:602390 OMIM:604250 OMIM:606069 OMIM:613313 ORDO:139491 ORDO:139498 ORDO:225123 ORDO:79230 SNOMEDCT_US_2015_03_01:154751003 SNOMEDCT_US_2015_03_01:267504005 SNOMEDCT_US_2015_03_01:399144008 SNOMEDCT_US_2015_03_01:399187006 SNOMEDCT_US_2015_03_01:86781004 UMLS_CUI:C0018995 Xref MGI. diabetes bronze disease_ontology iron storage disorder CSP2005:1630-3927 iron storage disorder Haemochromatosis SNOMEDCT_2005_07_31:267504005 CSP2005:1849-4292 diabetes bronze A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. url:http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis url:http://ghr.nlm.nih.gov/condition/hemochromatosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract myelophthisic anemia A myeloma and anemia that is located_in some people with diseases that affect the bone marrow. ANEMIA LEUKOERYTHROBLASTIC Anemia, leukoerythroblastic DOID:2354 ICD10CM:D61.82 Leukoerythroblastosis MSH:D000750 Myelophthisic anemia (disorder) NCI:C36218 SNOMEDCT_US_2015_03_01:2694001 UMLS_CUI:C0002890 disease_ontology myelophthisis A myeloma and anemia that is located_in some people with diseases that affect the bone marrow. url:http://en.wikipedia.org/wiki/Myelophthisic_anemia Anemia, leukoerythroblastic MTHICD9_2006:285.8 Leukoerythroblastosis NCI2004_11_17:C36218 Myelophthisic anemia (disorder) SNOMEDCT_2005_07_31:2694001 ANEMIA LEUKOERYTHROBLASTIC MTH:NOCODE anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. DOID:2355 EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MSH:D000740 NCI:C2869 PRISM. SNOMEDCT_US_2015_03_01:154786001 SNOMEDCT_US_2015_03_01:154812000 SNOMEDCT_US_2015_03_01:191277004 SNOMEDCT_US_2015_03_01:267531008 SNOMEDCT_US_2015_03_01:271737000 SNOMEDCT_US_2015_03_01:64593003 UMLS_CUI:C0002871 anaemia disease_ontology A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. url:http://en.wikipedia.org/wiki/Anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/ macrocytic anemia ANEMIA MACROCYTIC DOID:2361 MSH:D000748 Macrocytic Anemia Macrocytic anaemia of unspecified cause Macrocytic anemia Macrocytic anemia (disorder) Macrocytic anemia of unspecified cause (disorder) NCI:C34381 SNOMEDCT_US_2015_03_01:191151004 SNOMEDCT_US_2015_03_01:191277004 SNOMEDCT_US_2015_03_01:234356001 SNOMEDCT_US_2015_03_01:83414005 UMLS_CUI:C0002886 disease_ontology MTHICD9_2006:281.9 Macrocytic anemia Macrocytic anaemia of unspecified cause SNOMEDCT_2005_07_31:191277004 ANEMIA MACROCYTIC MTH:NOCODE Macrocytic Anemia NCI2004_11_17:C34381 Macrocytic anemia (disorder) SNOMEDCT_2005_07_31:83414005 Macrocytic anaemia of unspecified cause SNOMEDCT_2005_07_31:191151004 Macrocytic anemia of unspecified cause (disorder) SNOMEDCT_2005_07_31:234356001 post-thrombotic syndrome A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. DOID:12820 DOID:2363 DOID:2364 DOID:2720 ICD10CM:I87.0 ICD9CM:459.1 ICD9CM:459.11 ICD9CM:459.12 ICD9CM:459.13 MSH:D011186 Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation SNOMEDCT_US_2015_03_01:155460004 SNOMEDCT_US_2015_03_01:20427003 SNOMEDCT_US_2015_03_01:410013001 UMLS_CUI:C0032807 UMLS_CUI:C1135219 UMLS_CUI:C1135220 UMLS_CUI:C1135221 disease_ontology postphlebitic syndrome venous stress disorder A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. url:http://en.wikipedia.org/wiki/Post-thrombotic_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/21239797 West Nile encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. DOID:2365 ICD10CM:A92.31 ICD9CM:066.41 MSH:D014901 SNOMEDCT_US_2015_03_01:392662004 UMLS_CUI:C0751583 West Nile Fever with encephalitis West Nile fever encephalitis disease_ontology MTHICD9_2006:066.41 West Nile fever encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm ICD9CM_2006:066.41 West Nile Fever with encephalitis West Nile fever A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. DOID:2366 ICD10CM:A92.3 ICD10CM:A92.30 ICD9CM:066.4 ICD9CM:066.40 MSH:D014901 SNOMEDCT_US_2015_03_01:12381007 SNOMEDCT_US_2015_03_01:417093003 UMLS_CUI:C0043124 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. url:http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm url:http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf neuroaxonal dystrophy DOID:2367 MSH:D019150 Neuroaxonal dystrophy (disorder) SNOMEDCT_US_2015_03_01:230365004 UMLS_CUI:C0338473 disease_ontology Neuroaxonal dystrophy (disorder) SNOMEDCT_2005_07_31:230365004 gangliosidosis DOID:2368 ICD10CM:E75.10 MSH:D005733 SNOMEDCT_US_2015_03_01:50967008 UMLS_CUI:C0017083 disease_ontology mucolipidosis type IV diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations DOID:2369 Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations disease_ontology true Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations ICD9CM_2006:250.41 Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations MTHICD9_2006:250.41 adhesions and disruptions of iris and ciliary body DOID:237 adhesions and disruptions of iris and ciliary body (disorder) adhesions and disruptions of iris and ciliary body NOS (disorder) disease_ontology true SNOMEDCT_2005_07_31:193526000 adhesions and disruptions of iris and ciliary body NOS (disorder) SNOMEDCT_2005_07_31:267624002 adhesions and disruptions of iris and ciliary body (disorder) diabetic nephropathy DOID:2370 disease_ontology true hereditary elliptocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. Congenital elliptocytosis DOID:2373 ICD10CM:D58.1 ICD9CM:282.1 MSH:D004612 NCI:C35882 NCI:C36293 OMIM:130600 OMIM:225450 OMIM:611804 ORDO:288 SNOMEDCT_US_2015_03_01:154801000 SNOMEDCT_US_2015_03_01:178935009 SNOMEDCT_US_2015_03_01:191169008 SNOMEDCT_US_2015_03_01:267558001 SNOMEDCT_US_2015_03_01:58864003 UMLS_CUI:C0013902 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology ovalocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. url:http://en.wikipedia.org/wiki/Hereditary_elliptocytosis url:http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html CSP2005:0427-1524 ovalocytosis chronic progressive multiple sclerosis DOID:2376 This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS] chronic progressive multiple sclerosis (disorder) disease_ontology true SNOMEDCT_2005_07_31:230373008 chronic progressive multiple sclerosis (disorder) multiple sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. DOID:2377 EFO:0003885 Generalized multiple sclerosis (disorder) ICD10CM:G35 ICD9CM:340 MSH:D009103 NCI:C3243 OMIM mapping confirmed by DO. [LS]. OMIM:126200 OMIM:612594 OMIM:612595 OMIM:612596 OMIM:614810 SNOMEDCT_US_2015_03_01:155023009 SNOMEDCT_US_2015_03_01:192928003 SNOMEDCT_US_2015_03_01:192930001 SNOMEDCT_US_2015_03_01:24700007 UMLS_CUI:C0026769 disease_ontology insular sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. url:http://en.wikipedia.org/wiki/Multiple_sclerosis Generalized multiple sclerosis (disorder) SNOMEDCT_2005_07_31:192928003 CSP2005:2042-2324 insular sclerosis relapsing-remitting multiple sclerosis A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. DOID:2378 EFO:0003929 MSH:D020529 RRMS Relapsing-remitting MS SNOMEDCT_US_2015_03_01:426373005 UMLS_CUI:C0751967 disease_ontology A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. url:http://www.mayoclinic.org/multiple-sclerosis/types.html pupil disease DOID:238 MSH:D011681 Pupillary disorder SNOMEDCT_US_2015_03_01:68633000 UMLS_CUI:C0034124 disease_ontology Pupillary disorder SNOMEDCT_2005_07_31:68633000 Vibrio cholerae O1 biovar El Tor cholera A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. Cholera due to Vibrio cholerae 01, biovar el tor Cholera due to Vibrio cholerae El Tor (disorder) Cholera due to Vibrio cholerae el tor DOID:0050005 DOID:2381 Vibrio cholerae 01 biovar cholerae cholera Vibrio cholerae O1 biovar eltor cholera Vibrio cholerae biovar El Tor cholera Vibrio cholerae el tor cholera cholera due to Vibrio cholerae 01 biovar cholerae disease_ontology true Cholera due to Vibrio cholerae El Tor (disorder) SNOMEDCT_2005_07_31:81020007 Cholera due to Vibrio cholerae el tor ICD9CM_2006:001.1 A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent kernicterus DOID:2382 ICD10CM:P57 ICD10CM:P57.9 Kernicterus of newborn (disorder) Kernicterus of newborn NOS (disorder) MSH:D007647 NCI:C84799 SNOMEDCT_US_2015_03_01:157135006 SNOMEDCT_US_2015_03_01:206479002 SNOMEDCT_US_2015_03_01:230770008 SNOMEDCT_US_2015_03_01:268880009 SNOMEDCT_US_2015_03_01:50143004 SNOMEDCT_US_2015_03_01:74925009 UMLS_CUI:C0022610 bilirubin encephalopathy disease_ontology CSP2005:1653-7303 bilirubin encephalopathy Kernicterus of newborn NOS (disorder) SNOMEDCT_2005_07_31:206479002 Kernicterus of newborn (disorder) SNOMEDCT_2005_07_31:50143004 neonatal jaundice A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. DOID:2383 ICD10CM:P59.9 MSH:D007567 NCI:C99246 SNOMEDCT_US_2015_03_01:111470007 SNOMEDCT_US_2015_03_01:206474007 SNOMEDCT_US_2015_03_01:276549000 SNOMEDCT_US_2015_03_01:299968002 SNOMEDCT_US_2015_03_01:30235009 SNOMEDCT_US_2015_03_01:31482007 SNOMEDCT_US_2015_03_01:387712008 UMLS_CUI:C0022353 disease_ontology neonatal hyperbilirubinemia neonatal icterus A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. url:http://en.wikipedia.org/wiki/Neonatal_jaundice url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm Wernicke encephalopathy DOID:2384 ICD10CM:E51.2 MSH:D014899 SNOMEDCT_US_2015_03_01:190626005 SNOMEDCT_US_2015_03_01:190627001 SNOMEDCT_US_2015_03_01:21007002 UMLS_CUI:C0043121 Wernicke's disease (disorder) Wernicke's encephalopathy disease_ontology SNOMEDCT_2005_07_31:190626005 Wernicke's encephalopathy SNOMEDCT_2005_07_31:21007002 Wernicke's disease (disorder) thiamine deficiency DOID:2385 Thiamin deficiency (disorder) Thiamine deficiency Thiamine deficiency, unspecified Thiamine deficiency, unspecified (disorder) disease_ontology thiamine deficiency true vitamin B1 deficiency SNOMEDCT_2005_07_31:190628006 Thiamine deficiency, unspecified SNOMEDCT_2005_07_31:267491008 Thiamine deficiency SNOMEDCT_2005_07_31:190624008 vitamin B1 deficiency SNOMEDCT_2005_07_31:154725000 Thiamine deficiency CSP2005:2116-7354 thiamine deficiency SNOMEDCT_2005_07_31:35843007 Thiamin deficiency (disorder) SNOMEDCT_2005_07_31:399357009 Thiamin deficiency (disorder) SNOMEDCT_2005_07_31:191088004 Thiamine deficiency, unspecified (disorder) renal artery disease DOID:2388 ICD9CM:593.81 NCI:C35338 SNOMEDCT_US_2015_03_01:16934004 SNOMEDCT_US_2015_03_01:197814004 SNOMEDCT_US_2015_03_01:266559003 UMLS_CUI:C0268790 disease_ontology renal vascular disease vascular disorder of kidney ICD9CM_2006:593.81 vascular disorder of kidney fibromuscular dysplasia DOID:2389 Fibromuscular dysplasia (morphologic abnormality) Fibromuscular hyperplasia of arteries NOS (disorder) Fibromuscular hyperplasia of artery Fibromuscular hyperplasia of artery (disorder) Fibromuscular hyperplasia of artery [Ambiguous] disease_ontology true Fibromuscular hyperplasia of artery SNOMEDCT_2005_07_31:195371006 Fibromuscular hyperplasia of artery (disorder) SNOMEDCT_2005_07_31:359553002 Fibromuscular hyperplasia of artery [Ambiguous] SNOMEDCT_2005_07_31:234023007 Fibromuscular hyperplasia of arteries NOS (disorder) SNOMEDCT_2005_07_31:195370007 Fibromuscular dysplasia (morphologic abnormality) SNOMEDCT_2005_07_31:31653004 iridodialysis DOID:239 coredialysis disease_ontology true glandular cystitis DOID:2392 NCI:C39860 SNOMEDCT_US_2015_03_01:72815004 UMLS_CUI:C0268837 cystitis glandularis disease_ontology ovarian cancer A female reproductive organ cancer that is located_in the ovary. DOID:0060070 DOID:2144 DOID:2394 DOID:9595 ICD10CM:C56 ICD9CM:183.0 MSH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213517 SNOMEDCT_US_2015_03_01:123843001 SNOMEDCT_US_2015_03_01:154528000 SNOMEDCT_US_2015_03_01:363443007 SNOMEDCT_US_2015_03_01:372117006 SNOMEDCT_US_2015_03_01:93934004 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary CSP2005:2016-1387 ovary neoplasm NCI2004_11_17:C7431 malignant Ovarian tumor NCI2004_11_17:C4984 tumor of the Ovary A female reproductive organ cancer that is located_in the ovary. url:http://www.cancer.gov/dictionary?CdrID=445074 SNOMEDCT_2005_07_31:154528000 malignant tumour of ovary MTH:NOCODE ovarian neoplasm ovarian clear cell neoplasm Clear cell tumor of ovary (disorder) DOID:2399 disease_ontology true Clear cell tumor of ovary (disorder) SNOMEDCT_2005_07_31:254853007 iris disease DOID:240 Iris disorder MSH:D007499 NCI:C34737 SNOMEDCT_US_2015_03_01:155116005 SNOMEDCT_US_2015_03_01:267719008 SNOMEDCT_US_2015_03_01:85478004 UMLS_CUI:C0022078 disease_ontology disorder of iris (disorder) Iris disorder SNOMEDCT_2005_07_31:155116005 SNOMEDCT_2005_07_31:85478004 disorder of iris (disorder) Iris disorder NCI2004_11_17:C34737 Iris disorder SNOMEDCT_2005_07_31:267719008 clitoris cancer Clitoral Ca DOID:2400 DOID:2401 ICD10CM:C51.2 ICD9CM:184.3 NCI:C3557 NCI:C9362 SNOMEDCT_US_2015_03_01:154535008 SNOMEDCT_US_2015_03_01:188213003 SNOMEDCT_US_2015_03_01:269604005 SNOMEDCT_US_2015_03_01:371979001 SNOMEDCT_US_2015_03_01:93758009 UMLS_CUI:C0153589 UMLS_CUI:C1333070 carcinoma of Clitoris clitoral cancer disease_ontology malignant neoplasm of clitoris (disorder) malignant tumor of Clitoris NCI2004_11_17:C9362 carcinoma of Clitoris Clitoral Ca SNOMEDCT_2005_07_31:188213003 SNOMEDCT_2005_07_31:371979001 malignant neoplasm of clitoris (disorder) Clitoral Ca SNOMEDCT_2005_07_31:154535008 Clitoral Ca SNOMEDCT_2005_07_31:269604005 NCI2004_11_17:C3557 malignant tumor of Clitoris Clitoral Ca SNOMEDCT_2005_07_31:93758009 lymphangiectasis DOID:2402 Lymphangiectases (disorder) Lymphangiectasis (morphologic abnormality) disease_ontology true Lymphangiectases (disorder) SNOMEDCT_2005_07_31:238801004 Lymphangiectasis (morphologic abnormality) SNOMEDCT_2005_07_31:48087001 rhinosporidiosis A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. DOID:2409 ICD10CM:B48.1 ICD9CM:117.0 Infection by Rhinosporidium seeberi MSH:D012227 Rhinosporidiosis (disorder) SNOMEDCT_US_2015_03_01:18140003 UMLS_CUI:C0035469 disease_ontology Infection by Rhinosporidium seeberi MTHICD9_2006:117.0 A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. url:http://emedicine.medscape.com/article/227734-overview Rhinosporidiosis (disorder) SNOMEDCT_2005_07_31:18140003 skin granular cell tumor DOID:2410 NCI:C5617 SNOMEDCT_US_2015_03_01:254763007 UMLS_CUI:C0346060 disease_ontology granular cell neoplasm of the skin granular cell tumor of skin (disorder) SNOMEDCT_2005_07_31:254763007 granular cell tumor of skin (disorder) NCI2004_11_17:C5617 granular cell neoplasm of the skin granular cell tumor DOID:2411 MSH:D016586 NCI:C3474 SNOMEDCT_US_2015_03_01:12169001 SNOMEDCT_US_2015_03_01:189954007 SNOMEDCT_US_2015_03_01:404035005 UMLS_CUI:C0085167 disease_ontology granular cell tumor (disorder) granular cell tumor (morphologic abnormality) granular cell tumor NOS (morphologic abnormality) neoplasm of granular cell SNOMEDCT_2005_07_31:189954007 granular cell tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:404035005 granular cell tumor (disorder) SNOMEDCT_2005_07_31:12169001 granular cell tumor (morphologic abnormality) NCI2004_11_17:C3474 neoplasm of granular cell skin tumor of neural origin DOID:2412 disease_ontology neural tumor of the skin skin tumor of neural origin (disorder) true NCI2004_11_17:C4479 neural tumor of the skin SNOMEDCT_2005_07_31:254758008 skin tumor of neural origin (disorder) epithelioid and spindle cell nevus DOID:2413 Pigmented spindle cell naevus of Reed Spitz (spindle cell) nevus disease_ontology epithelioid and spindle cell nevus (disorder) true NCI2004_11_17:C27007 Spitz (spindle cell) nevus SNOMEDCT_2005_07_31:254811006 epithelioid and spindle cell nevus (disorder) Pigmented spindle cell naevus of Reed SNOMEDCT_2005_07_31:88082008 benign skin melanocytic nevus DOID:191 DOID:2415 DOID:2418 DOID:5901 Magnocellular nevus Magnocellular nevus (morphologic abnormality) Naevus - benign benign melanocytic naevus benign melanocytic naevus of skin benign melanocytic nevus benign melanoma benign nevus of skin cutaneous melanocytic neoplasm disease_ontology melanocytic neoplasm melanocytic neoplasm (disorder) melanocytic neoplasm of skin melanocytic tumor of skin (disorder) melanocytoma true SNOMEDCT_2005_07_31:276728004 melanocytic tumor of skin (disorder) NCI2004_11_17:C7571 benign melanocytic nevus SNOMEDCT_2005_07_31:399956005 melanocytic neoplasm (disorder) Magnocellular nevus (morphologic abnormality) SNOMEDCT_2005_07_31:26325004 Naevus - benign SNOMEDCT_2005_07_31:154613008 Magnocellular nevus NCI2004_11_17:C4230 SNOMEDCT_2005_07_31:189086004 benign melanocytic naevus of skin NCI2004_11_17:C7161 melanocytic neoplasm of skin NCI2004_11_17:C7058 melanocytic neoplasm SNOMEDCT_2005_07_31:109265005 benign nevus of skin SNOMEDCT_2005_07_31:247457003 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:189051001 benign nevus of skin SNOMEDCT_2005_07_31:21119008 benign melanoma SNOMEDCT_2005_07_31:253037001 benign melanocytic naevus SNOMEDCT_2005_07_31:400010006 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:254801004 benign melanocytic naevus of skin Naevus - benign SNOMEDCT_2005_07_31:269639005 melanocytic nevus DOID:2417 Melanotic nevus NEVI PIGMENTED Pigmented naevus Pigmented naevus NOS Pigmented nevus Pigmented nevus, no ICD-O subtype (morphologic abnormality) Sutton's naevus disease_ontology melanocytic naevi, unspecified melanocytic nevi, unspecified (disorder) melanocytic nevus (disorder) melanocytic nevus of skin (disorder) mole (skin) true NCI2004_11_17:C27816 Pigmented nevus Melanotic nevus NCI2004_11_17:C7570 SNOMEDCT_2005_07_31:400010006 melanocytic nevus of skin (disorder) SNOMEDCT_2005_07_31:109265005 melanocytic nevus (disorder) Pigmented naevus NOS SNOMEDCT_2005_07_31:276499003 SNOMEDCT_2005_07_31:307602007 Sutton's naevus SNOMEDCT_2005_07_31:398028009 Sutton's naevus Pigmented nevus, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:21119008 Pigmented naevus SNOMEDCT_2005_07_31:189051001 SNOMEDCT_2005_07_31:189096008 melanocytic naevi, unspecified SNOMEDCT_2005_07_31:400096001 melanocytic nevus (disorder) SNOMEDCT_2005_07_31:190213002 melanocytic nevi, unspecified (disorder) MTH:NOCODE NEVI PIGMENTED CSP2005:0727-0083 mole (skin) skin fibrous tissue neoplasm Cutaneous fibrous tissue neoplasm DOID:2421 disease_ontology fibrous tissue tumor of skin (disorder) true Cutaneous fibrous tissue neoplasm NCI2004_11_17:C4634 SNOMEDCT_2005_07_31:254736006 fibrous tissue tumor of skin (disorder) halo nevus DOID:2423 HALO NEVI HN Halo nevus (disorder) Halo nevus (morphologic abnormality) OMIM mapping confirmed by DO. [SN]. disease_ontology true Halo nevus (morphologic abnormality) SNOMEDCT_2005_07_31:78325005 Halo nevus (disorder) SNOMEDCT_2005_07_31:398028009 Halo nevus (disorder) SNOMEDCT_2005_07_31:307602007 HN NCI2004_11_17:C7602 intradermal nevus DOID:2424 Dermal cellular nevus (disorder) Dermal nevus Intradermal nevus (morphologic abnormality) disease_ontology true Dermal nevus NCI2004_11_17:C3804 Dermal cellular nevus (disorder) SNOMEDCT_2005_07_31:302838006 Intradermal nevus (morphologic abnormality) SNOMEDCT_2005_07_31:112681002 cutaneous ganglioneuroma Cutaneous Ganglioneuroma DOID:2425 Ganglioneuroma of skin (disorder) NCI:C4481 SNOMEDCT_US_2015_03_01:254766004 UMLS_CUI:C0346063 disease_ontology Ganglioneuroma of skin (disorder) SNOMEDCT_2005_07_31:254766004 Cutaneous Ganglioneuroma NCI2004_11_17:C4481 gangliocytoma DOID:2426 MSH:D005729 NCI:C3049 NCI:C6934 SNOMEDCT_US_2015_03_01:128919000 SNOMEDCT_US_2015_03_01:189929007 SNOMEDCT_US_2015_03_01:53801007 UMLS_CUI:C0017075 disease_ontology skin glomus tumor DOID:2430 Glomus skin neoplasm Glomus tumor of skin (disorder) NCI:C4491 SNOMEDCT_US_2015_03_01:254795008 UMLS_CUI:C0346083 disease_ontology Glomus skin neoplasm NCI2004_11_17:C4491 Glomus tumor of skin (disorder) SNOMEDCT_2005_07_31:254795008 glomus tumor A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. DOID:2431 Glomus neoplasm Glomus tumour MSH:D005918 NCI:C3060 SNOMEDCT_US_2015_03_01:10438002 SNOMEDCT_US_2015_03_01:189193002 SNOMEDCT_US_2015_03_01:393567008 SNOMEDCT_US_2015_03_01:403969002 UMLS_CUI:C0017653 disease_ontology Glomus tumour SNOMEDCT_2005_07_31:393567008 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. url:www.iarc.fr/en/publications/pdfs-online/pat-gen/bb5/bb5-chap5.pdf Glomus neoplasm NCI2004_11_17:C3060 epidermal appendage tumor DOID:2433 NCI:C4463 SNOMEDCT_US_2015_03_01:126489007 SNOMEDCT_US_2015_03_01:55681005 UMLS_CUI:C0345988 disease_ontology neoplasm of skin with adnexal differentiation (disorder) neoplasm of the skin Appendage skin appendage tumour NCI2004_11_17:C4463 neoplasm of the skin Appendage SNOMEDCT_2005_07_31:55681005 skin appendage tumour SNOMEDCT_2005_07_31:126489007 neoplasm of skin with adnexal differentiation (disorder) intraepidermal nevus DOID:2434 Junctional melanocytic nevus of skin (disorder) Junctional nevus (morphologic abnormality) Junctional nevus of the skin disease_ontology true Junctional nevus (morphologic abnormality) SNOMEDCT_2005_07_31:30494009 Junctional melanocytic nevus of skin (disorder) SNOMEDCT_2005_07_31:254802006 Junctional nevus of the skin NCI2004_11_17:C4231 skin glomangioma Cutaneous Glomangioma DOID:2435 Glomangioma of skin (disorder) NCI:C6750 SNOMEDCT_US_2015_03_01:403970001 UMLS_CUI:C1275226 disease_ontology Glomangioma of skin (disorder) SNOMEDCT_2005_07_31:403970001 Cutaneous Glomangioma NCI2004_11_17:C6750 glomangioma DOID:2436 MSH:D005918 NCI:C4222 SNOMEDCT_US_2015_03_01:7429002 UMLS_CUI:C0334421 disease_ontology skin compound nevus Compound nevus (morphologic abnormality) Compound nevus of skin (disorder) DOID:2437 compound nevus disease_ontology true NCI2004_11_17:C3901 compound nevus Compound nevus (morphologic abnormality) SNOMEDCT_2005_07_31:49409001 Compound nevus of skin (disorder) SNOMEDCT_2005_07_31:254805008 dermis tumor DOID:2438 NCI:C4475 SNOMEDCT_US_2015_03_01:254735005 UMLS_CUI:C0346041 disease_ontology neoplasm of Dermis tumor of dermis (disorder) SNOMEDCT_2005_07_31:254735005 tumor of dermis (disorder) NCI2004_11_17:C4475 neoplasm of Dermis frontal sinus squamous cell carcinoma DOID:2441 Epidermoid carcinoma of the Frontal sinus NCI:C6067 UMLS_CUI:C1333646 disease_ontology Epidermoid carcinoma of the Frontal sinus NCI2004_11_17:C6067 hyperpituitarism DOID:2444 MSH:D006964 SNOMEDCT_US_2015_03_01:10649000 SNOMEDCT_US_2015_03_01:154698000 SNOMEDCT_US_2015_03_01:267480001 UMLS_CUI:C0020506 disease_ontology gigantism Anterior pituitary hyperfunction DOID:2446 Pituitary gigantism disease_ontology true Pituitary gigantism SNOMEDCT_2005_07_31:86073008 Anterior pituitary hyperfunction SNOMEDCT_2005_07_31:154698000 acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. DOID:2449 MSH:D000172 NCI:C84533 SNOMEDCT_US_2015_03_01:154698000 SNOMEDCT_US_2015_03_01:267480001 SNOMEDCT_US_2015_03_01:74107003 UMLS_CUI:C0001206 disease_ontology A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. url:http://en.wikipedia.org/wiki/Acromegaly url:http://www.acromegaly.org/ url:http://www.mayoclinic.com/health/acromegaly/DS00478 url:http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm url:http://www.umm.edu/endocrin/acromegaly.htm central retinal vein occlusion DOID:2450 ICD10CM:H34.81 ICD9CM:362.35 SNOMEDCT_US_2015_03_01:193378003 SNOMEDCT_US_2015_03_01:68478007 UMLS_CUI:C0154841 central retinal vein occlusion (disorder) disease_ontology SNOMEDCT_2005_07_31:68478007 central retinal vein occlusion (disorder) protein S deficiency DOID:2451 ICD10CM:D68.59 MSH:D018455 NCI:C99026 Protein S deficiency Protein S deficiency disease (disorder) SNOMEDCT_US_2015_03_01:1563006 UMLS_CUI:C0242666 disease_ontology Protein S deficiency disease (disorder) SNOMEDCT_2005_07_31:1563006 MTHICD9_2006:289.81 Protein S deficiency thrombophilia DOID:2452 ICD10CM:D68.59 MSH:D019851 NCI:C84479 OMIM mapping confirmed by DO. [LS]. OMIM:188050 SNOMEDCT_US_2015_03_01:191302007 SNOMEDCT_US_2015_03_01:234467004 SNOMEDCT_US_2015_03_01:76612001 Thrombophilia (disorder) UMLS_CUI:C0398623 disease_ontology hypercoagulability state (finding) SNOMEDCT_2005_07_31:76612001 hypercoagulability state (finding) SNOMEDCT_2005_07_31:234467004 Thrombophilia (disorder) angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. Angular blepharoconjunctivitis (disorder) DOID:2455 ICD10CM:H10.52 ICD9CM:372.21 SNOMEDCT_US_2015_03_01:193871000 SNOMEDCT_US_2015_03_01:69397000 UMLS_CUI:C0155149 disease_ontology Angular blepharoconjunctivitis (disorder) SNOMEDCT_2005_07_31:69397000 A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. url:http://dro.hs.columbia.edu/angbleph.htm blepharoconjunctivitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. Blepharoconjunctivitis (disorder) Blepharoconjunctivitis NOS (disorder) Blepharoconjunctivitis, unspecified DOID:2456 ICD10CM:H10.5 ICD10CM:H10.50 ICD9CM:372.2 ICD9CM:372.20 NCI:C34430 SNOMEDCT_US_2015_03_01:155164001 SNOMEDCT_US_2015_03_01:193870004 SNOMEDCT_US_2015_03_01:193873002 SNOMEDCT_US_2015_03_01:68659002 UMLS_CUI:C0005743 Unspecified blepharoconjunctivitis (disorder) disease_ontology SNOMEDCT_2005_07_31:193870004 Unspecified blepharoconjunctivitis (disorder) Blepharoconjunctivitis (disorder) SNOMEDCT_2005_07_31:68659002 Blepharoconjunctivitis, unspecified ICD9CM_2006:372.20 Blepharoconjunctivitis NOS (disorder) SNOMEDCT_2005_07_31:193873002 A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. url:http://en.wikipedia.org/wiki/Conjunctivitis giant papillary conjunctivitis DOID:2457 Giant Papillary Conjunctivitis Giant papillary conjunctivitis (disorder) MSH:D003233 NCI:C34507 SNOMEDCT_US_2015_03_01:231857004 UMLS_CUI:C0009769 disease_ontology Giant papillary conjunctivitis (disorder) SNOMEDCT_2005_07_31:231857004 Giant Papillary Conjunctivitis NCI2004_11_17:C34507 papillary conjunctivitis DOID:2458 NCI:C35616 Papillary conjunctivitis (disorder) SNOMEDCT_US_2015_03_01:416878008 UMLS_CUI:C0854165 disease_ontology Papillary conjunctivitis (disorder) SNOMEDCT_2005_07_31:416878008 anterior dislocation of lens Anterior dislocation of lens (disorder) DOID:2460 ICD10CM:H27.12 ICD9CM:379.33 SNOMEDCT_US_2015_03_01:194160006 SNOMEDCT_US_2015_03_01:37283009 UMLS_CUI:C0155372 disease_ontology Anterior dislocation of lens (disorder) SNOMEDCT_2005_07_31:37283009 retinal vascular disease DOID:2462 NCI:C35170 SNOMEDCT_US_2015_03_01:57534004 UMLS_CUI:C0154833 disease_ontology retina circulation disorder CSP2005:1114-7471 retina circulation disorder reactive confusion DOID:2467 Psychogenic confusion Psychogenic twilight state disease_ontology true Psychogenic confusion SNOMEDCT_2005_07_31:280943007 MTHICD9_2006:298.2 Psychogenic twilight state psychotic disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. DOID:2468 EFO:0000677 ICD9CM:298.8 UMLS_CUI:C0029516 disease_ontology mental or behavioural disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. url:http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html swine erysipelas DOID:2469 Erysipelas in swine disease_ontology true Erysipelas in swine SNOMEDCT_2005_07_31:37122007 Erysipelothrix infectious disease DOID:2470 Erysipeloid (disorder) Erysipelothrix disease (disorder) Seal finger (disorder) disease_ontology true Erysipeloid (disorder) SNOMEDCT_2005_07_31:186322009 SNOMEDCT_2005_07_31:238455005 Seal finger (disorder) Erysipelothrix disease (disorder) SNOMEDCT_2005_07_31:367434002 Erysipelothrix rhusiopathiae infectious disease DOID:2471 Infection due to E. rhusiopathiae Infection due to Erysipelothrix rhusiopathiae disease_ontology true Infection due to Erysipelothrix rhusiopathiae SNOMEDCT_2005_07_31:266005008 Infection due to E. rhusiopathiae MTHICD9_2006:027.1 opportunistic mycosis A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. DOID:0050137 DOID:2473 ICD9CM:118 Opportunistic mycoses (disorder) Opportunistic mycosis (disorder) SNOMEDCT_US_2015_03_01:187108005 SNOMEDCT_US_2015_03_01:78999002 UMLS_CUI:C0029119 disease_ontology opportunistic systemic mycoses Opportunistic mycoses (disorder) SNOMEDCT_2005_07_31:187108005 Opportunistic mycosis (disorder) SNOMEDCT_2005_07_31:78999002 A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 vernal conjunctivitis DOID:2474 ICD10CM:H10.44 ICD9CM:372.13 MSH:D003233 NCI:C34508 SNOMEDCT_US_2015_03_01:193774003 SNOMEDCT_US_2015_03_01:193867003 SNOMEDCT_US_2015_03_01:20212001 SNOMEDCT_US_2015_03_01:318316003 UMLS_CUI:C0009773 Vernal Conjunctivitis Vernal conjunctivitis Vernal conjunctivitis (disorder) Vernal conjunctivitis (disorder) [Ambiguous] disease_ontology SNOMEDCT_2005_07_31:20212001 Vernal conjunctivitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:193867003 Vernal conjunctivitis NCI2004_11_17:C34508 Vernal Conjunctivitis SNOMEDCT_2005_07_31:318316003 Vernal conjunctivitis (disorder) ICD9CM_2006:372.13 Vernal conjunctivitis SNOMEDCT_2005_07_31:193774003 Vernal conjunctivitis chronic conjunctivitis DOID:2475 ICD10CM:H10.4 ICD10CM:H10.40 ICD9CM:372.1 ICD9CM:372.10 NCI:C35197 SNOMEDCT_US_2015_03_01:155163007 SNOMEDCT_US_2015_03_01:193865006 SNOMEDCT_US_2015_03_01:193869000 SNOMEDCT_US_2015_03_01:73762008 UMLS_CUI:C0155145 Unspecified chronic conjunctivitis (disorder) chronic Conjunctivitis chronic conjunctivitis (disorder) chronic conjunctivitis NOS (disorder) chronic conjunctivitis, unspecified disease_ontology ICD9CM_2006:372.10 chronic conjunctivitis, unspecified SNOMEDCT_2005_07_31:73762008 chronic conjunctivitis (disorder) NCI2004_11_17:C35197 chronic Conjunctivitis SNOMEDCT_2005_07_31:193869000 chronic conjunctivitis NOS (disorder) SNOMEDCT_2005_07_31:193865006 Unspecified chronic conjunctivitis (disorder) hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. DOID:2476 HSMN V ICD10CM:G11.4 ICD9CM:334.1 MSH:D015419 OMIM:182600 OMIM:182601 OMIM:270685 OMIM:270700 OMIM:270750 OMIM:270800 OMIM:275900 OMIM:300266 OMIM:300750 OMIM:312920 OMIM:600146 OMIM:600363 OMIM:601162 OMIM:603563 OMIM:604187 OMIM:604360 OMIM:604805 OMIM:605229 OMIM:605280 OMIM:607152 OMIM:607259 OMIM:607584 OMIM:608220 OMIM:609041 OMIM:609195 OMIM:609340 OMIM:609727 OMIM:610244 OMIM:610250 OMIM:610357 OMIM:611225 OMIM:611252 OMIM:611945 OMIM:612020 OMIM:612319 OMIM:612335 OMIM:612539 OMIM:612936 OMIM:613096 OMIM:613162 OMIM:613206 OMIM:613364 OMIM:613647 OMIM:613744 OMIM:614066 OMIM:614067 OMIM:614409 OMIM:614898 OMIM:615030 OMIM:615031 OMIM:615033 OMIM:615035 OMIM:615043 OMIM:615625 OMIM:615658 OMIM:615683 OMIM:615685 OMIM:615686 SNOMEDCT_US_2015_03_01:155013000 SNOMEDCT_US_2015_03_01:267692008 SNOMEDCT_US_2015_03_01:39912006 SNOMEDCT_US_2015_03_01:76043009 UMLS_CUI:C0037773 Xref MGI. disease_ontology familial spastic paraplegia spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia HSMN V SNOMEDCT_2005_07_31:76043009 motor peripheral neuropathy DOID:2477 HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy [Ambiguous] ICD10CM:G60.0 MSH:D015417 NCI:C75467 Neuropathic muscular atrophy SNOMEDCT_US_2015_03_01:128202008 SNOMEDCT_US_2015_03_01:155081008 SNOMEDCT_US_2015_03_01:193158000 SNOMEDCT_US_2015_03_01:193160003 SNOMEDCT_US_2015_03_01:193161004 SNOMEDCT_US_2015_03_01:398100001 UMLS_CUI:C0027888 disease_ontology neuropathic muscular atrophy HSMN SNOMEDCT_2005_07_31:128202008 HSMN - Hereditary sensory and motor neuropathy SNOMEDCT_2005_07_31:193158000 Hereditary motor and sensory neuropathy [Ambiguous] SNOMEDCT_2005_07_31:193161004 Hereditary motor and sensory neuropathy SNOMEDCT_2005_07_31:155081008 MTHICD9_2006:356.1 Neuropathic muscular atrophy HSMN SNOMEDCT_2005_07_31:398100001 Neuropathic muscular atrophy SNOMEDCT_2005_07_31:50548001 CSP2005:2042-7637 neuropathic muscular atrophy Hereditary motor and sensory neuropathy SNOMEDCT_2005_07_31:193160003 central nervous system origin vertigo DOID:2479 ICD10CM:H81.4 ICD10CM:H81.49 ICD9CM:386.2 MSH:D014717 SNOMEDCT_US_2015_03_01:194362009 SNOMEDCT_US_2015_03_01:20425006 SNOMEDCT_US_2015_03_01:38403006 UMLS_CUI:C0155503 Vertigo of central origin Vertigo of central origin (disorder) Vertigo of central origin NOS (disorder) central vestibular vertigo disease_ontology SNOMEDCT_2005_07_31:38403006 Vertigo of central origin (disorder) SNOMEDCT_2005_07_31:194362009 Vertigo of central origin NOS (disorder) SNOMEDCT_2005_07_31:20425006 central vestibular vertigo ICD9CM_2006:386.2 Vertigo of central origin trachea leiomyoma DOID:246 DOID:248 MSH:D014134 NCI:C3419 NCI:C6049 SNOMEDCT_US_2015_03_01:126703006 Tracheal tumor UMLS_CUI:C0040582 UMLS_CUI:C1336772 disease_ontology leiomyoma of the Trachea neoplasm of trachea (disorder) trachea neoplasm tracheal neoplasm CSP2005:2017-6768 trachea neoplasm SNOMEDCT_2005_07_31:126703006 neoplasm of trachea (disorder) NCI2004_11_17:C6049 leiomyoma of the Trachea NCI2004_11_17:C3419 Tracheal tumor infantile epileptic encephalopathy DOID:2481 ICD10CM:G40.82 ICD9CM:345.6 MSH:D013036 NCI:C84788 OMIM mapping confirmed by DO. [SN]. OMIM:300088 OMIM:300607 OMIM:300672 OMIM:607208 OMIM:609304 OMIM:612164 OMIM:613402 OMIM:613477 OMIM:613720 OMIM:613721 OMIM:613722 SNOMEDCT_US_2015_03_01:155042008 SNOMEDCT_US_2015_03_01:193014002 SNOMEDCT_US_2015_03_01:193015001 SNOMEDCT_US_2015_03_01:193016000 SNOMEDCT_US_2015_03_01:28055006 SNOMEDCT_US_2015_03_01:288197007 UMLS_CUI:C0037769 disease_ontology infantile spasm phosphorus metabolism disease DOID:2485 ICD9CM:275.3 MSH:D010760 NCI:C97095 Phosphorus disorder SNOMEDCT_US_2015_03_01:154752005 SNOMEDCT_US_2015_03_01:190858002 SNOMEDCT_US_2015_03_01:190862008 SNOMEDCT_US_2015_03_01:267505006 SNOMEDCT_US_2015_03_01:87049008 UMLS_CUI:C0031707 disease_ontology disorder of phosphorus metabolism disorder of phosphorus metabolism (disorder) disorder of phosphorus metabolism NOS (disorder) phosphorus metabolism disorder SNOMEDCT_2005_07_31:87049008 disorder of phosphorus metabolism (disorder) SNOMEDCT_2005_07_31:190862008 disorder of phosphorus metabolism NOS (disorder) Phosphorus disorder SNOMEDCT_2005_07_31:154752005 ICD9CM_2006:275.3 disorder of phosphorus metabolism SNOMEDCT_2005_07_31:190858002 disorder of phosphorus metabolism (disorder) CSP2005:0531-8952 phosphorus metabolism disorder Phosphorus disorder SNOMEDCT_2005_07_31:267505006 hypercholesterolemia DOID:2487 disease_ontology hypercholesteremia hypercholesterolaemia true CSP2005:1744-1643 hypercholesteremia SNOMEDCT_2005_07_31:154740003 hypercholesterolaemia congenital nervous system abnormality DOID:2490 ICD9CM:742 SNOMEDCT_US_2015_03_01:204018008 UMLS_CUI:C0158538 congenital neurologic anomaly disease_ontology sensory peripheral neuropathy A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. DOID:10596 DOID:2491 ICD9CM:356.2 MSH:D009477 NCI:C3501 SNOMEDCT_US_2015_03_01:11442006 SNOMEDCT_US_2015_03_01:193163001 SNOMEDCT_US_2015_03_01:95662005 Sensory neuropathy (disorder) UMLS_CUI:C0151313 UMLS_CUI:C0699739 disease_ontology peripheral Sensory Neuropathy sensory neuropathy NCI2004_11_17:C3501 peripheral Sensory Neuropathy CSP2005:4007-0113 sensory neuropathy SNOMEDCT_2005_07_31:95662005 Sensory neuropathy (disorder) A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. ls:IEDB hereditary peripheral neuropathy DOID:2492 Hereditary peripheral neuropathy (disorder) Hereditary peripheral neuropathy NOS (disorder) disease_ontology true Hereditary peripheral neuropathy (disorder) SNOMEDCT_2005_07_31:65017003 Hereditary peripheral neuropathy NOS (disorder) SNOMEDCT_2005_07_31:193159008 gastric antral vascular ectasia DOID:2493 MSH:D020252 NCI:C84724 SNOMEDCT_US_2015_03_01:412795008 SNOMEDCT_US_2015_03_01:43935004 UMLS_CUI:C0267211 Watermelon stomach (disorder) disease_ontology gastric antral vascular ectasia (disorder) SNOMEDCT_2005_07_31:412795008 gastric antral vascular ectasia (disorder) SNOMEDCT_2005_07_31:43935004 Watermelon stomach (disorder) angiodysplasia A vascular disease that is characterized as a small vascular malformation of the gut. DOID:12071 DOID:2494 ICD9CM:537.83 MSH:D016888 SNOMEDCT_US_2015_03_01:71072006 UMLS_CUI:C0085411 UMLS_CUI:C0156091 angiodysplasia of stomach and duodenum with hemorrhage disease_ontology A vascular disease that is characterized as a small vascular malformation of the gut. url:http://en.wikipedia.org/wiki/Angiodysplasia senile angioma DOID:2495 NCI:C4390 SNOMEDCT_US_2015_03_01:11790000 SNOMEDCT_US_2015_03_01:5050001 Senile angioma (disorder) Senile hemangioma Senile naevus of skin UMLS_CUI:C0343082 disease_ontology NCI2004_11_17:C4390 Senile hemangioma SNOMEDCT_2005_07_31:11790000 Senile naevus of skin SNOMEDCT_2005_07_31:5050001 Senile angioma (disorder) enamel erosion DOID:2497 ICD9CM:521.31 UMLS_CUI:C1456161 disease_ontology tooth erosion DOID:11509 DOID:12687 DOID:2498 ICD10CM:K03.2 ICD9CM:521.3 ICD9CM:521.34 ICD9CM:521.35 MSH:D014077 SNOMEDCT_US_2015_03_01:155634008 SNOMEDCT_US_2015_03_01:196315004 SNOMEDCT_US_2015_03_01:266486000 SNOMEDCT_US_2015_03_01:82212003 UMLS_CUI:C0040436 UMLS_CUI:C1456164 UMLS_CUI:C1456165 disease_ontology generalized erosion localized erosion chronic brain damage DOID:250 chronic Encephalopathy chronic brain damage chronic brain syndrome (disorder) disease_ontology true CSP2005:0482-0937 chronic brain damage SNOMEDCT_2005_07_31:78689005 chronic brain syndrome (disorder) NCI2004_11_17:C34435 chronic Encephalopathy AIDS-related vulvovaginal candidiasis A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. DOID:2503 disease_ontology true A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis Takayasu's arteritis (Aortic arch arteritis) or (Takayasu's disease[& pulseless]) A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. Aortic Arch syndrome Aortic arch arteritis Aortic arch syndrome DOID:13377 DOID:2508 ICD10CM:M31.4 ICD9CM:446.7 Idiopathic aortitis (disorder) MSH:D001015 MSH:D013625 NCI:C34391 NCI:C35062 OMIM mapping confirmed by DO. [SN]. OMIM:207600 SNOMEDCT_US_2015_03_01:155445002 SNOMEDCT_US_2015_03_01:195361009 SNOMEDCT_US_2015_03_01:266323005 SNOMEDCT_US_2015_03_01:359789008 SNOMEDCT_US_2015_03_01:42153001 Takayasu arteritis Takayasu's disease UMLS_CUI:C0003490 UMLS_CUI:C0039263 disease_ontology A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. url:http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm ICD9CM_2006:446.7 SNOMEDCT_2005_07_31:155445002 SNOMEDCT_2005_07_31:266323005 Takayasu's disease Aortic Arch syndrome NCI2004_11_17:C34391 Idiopathic aortitis (disorder) SNOMEDCT_2005_07_31:239937004 Aortic arch arteritis MTHICD9_2006:446.7 Aortic arch syndrome SNOMEDCT_2005_07_31:359789008 (Aortic arch arteritis) or (Takayasu's disease[& pulseless]) SNOMEDCT_2005_07_31:195361009 alcohol-induced mental disorder DOID:251 ICD9CM:291.8 ICD9CM:291.89 UMLS_CUI:C1456283 disease_ontology Kluver-Bucy syndrome An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. DOID:2510 Klver-Bucy syndrome MSH:D020232 NCI:C84802 SNOMEDCT_US_2015_03_01:10651001 UMLS_CUI:C0270707 disease_ontology An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. url:http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome url:http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm Klver-Bucy syndrome SNOMEDCT_2005_07_31:10651001 nevoid basal cell carcinoma syndrome DOID:2512 Gorlin syndrome (disorder) MSH:D001478 NCI:C2892 Naevoid basal cell carcinoma syndrome OMIM mapping confirmed by DO. [SN]. OMIM:109400 SNOMEDCT_US_2015_03_01:188145001 SNOMEDCT_US_2015_03_01:254704004 SNOMEDCT_US_2015_03_01:69408002 UMLS_CUI:C0004779 basal cell nevus syndrome disease_ontology Naevoid basal cell carcinoma syndrome SNOMEDCT_2005_07_31:254704004 Naevoid basal cell carcinoma syndrome SNOMEDCT_2005_07_31:188145001 Gorlin syndrome (disorder) SNOMEDCT_2005_07_31:69408002 basal cell carcinoma A skin carcinoma affecting basal cells. BASAL CELL carcinoma OF SKIN Basal cell cancer Basal cell carcinoma NOS (morphologic abnormality) Basal cell carcinoma of skin (disorder) Basal cell neoplasm (morphologic abnormality) Basal cell neoplasm NOS (morphologic abnormality) Basal cell tumor Basal cell tumor (morphologic abnormality) CSP:2000-2719 DOID:2513 DOID:4275 DOID:4276 EFO:0004193 Epithelioma basal cell (disorder) HP:0002671 KEGG:05217 MSH:D002280 MSH:D018295 NCI:C2921 NCI:C3784 NCI:C7586 OMIM:605462 OMIM:613058 OMIM:613059 OMIM:613061 OMIM:613062 OMIM:613063 OMIM:614740 Rodent ulcer SNOMEDCT_US_2015_03_01:127570002 SNOMEDCT_US_2015_03_01:1338007 SNOMEDCT_US_2015_03_01:154507009 SNOMEDCT_US_2015_03_01:188083002 SNOMEDCT_US_2015_03_01:189572008 SNOMEDCT_US_2015_03_01:189573003 SNOMEDCT_US_2015_03_01:189574009 SNOMEDCT_US_2015_03_01:252995000 SNOMEDCT_US_2015_03_01:254701007 SNOMEDCT_US_2015_03_01:269582000 SNOMEDCT_US_2015_03_01:275265005 SNOMEDCT_US_2015_03_01:30649006 SNOMEDCT_US_2015_03_01:399049001 UMLS_CUI:C0007117 UMLS_CUI:C0206710 UMLS_CUI:C1368295 Xref MGI. disease_ontology malignant Basal cell neoplasm malignant basal cell tumor malignant basal cell tumor (morphologic abnormality) Basal cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:30649006 Basal cell tumor NCI2004_11_17:C3784 Basal cell neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189572008 Epithelioma basal cell (disorder) SNOMEDCT_2005_07_31:275265005 Basal cell neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189574009 Basal cell carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189573003 Rodent ulcer SNOMEDCT_2005_07_31:399049001 NCI2004_11_17:C7586 malignant Basal cell neoplasm A skin carcinoma affecting basal cells. url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma Rodent ulcer SNOMEDCT_2005_07_31:269582000 Rodent ulcer SNOMEDCT_2005_07_31:154507009 Basal cell cancer NCI2004_11_17:C2921 SNOMEDCT_2005_07_31:252995000 malignant basal cell tumor (morphologic abnormality) Rodent ulcer SNOMEDCT_2005_07_31:188083002 BASAL CELL carcinoma OF SKIN MTH:100 Basal cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254701007 meningococcal optic neuritis DOID:2514 Meningococcal optic neuritis (disorder) disease_ontology true Meningococcal optic neuritis (disorder) SNOMEDCT_2005_07_31:73431005 meningococcal infectious disease DOID:2515 disease_ontology true intracranial cavernous angioma DOID:2516 NCI:C5432 SNOMEDCT_US_2015_03_01:445513004 UMLS_CUI:C1334237 disease_ontology intracranial Cavernoma NCI2004_11_17:C5432 intracranial Cavernoma intracranial structure hemangioma Angioma of intracranial Structure DOID:2517 ICD10CM:D18.02 ICD9CM:228.02 NCI:C3633 SNOMEDCT_US_2015_03_01:189196005 SNOMEDCT_US_2015_03_01:93468003 UMLS_CUI:C0154050 disease_ontology hemangioma of intracranial structure (disorder) hemangioma of intracranial structures hemangioma of intracranial structures (disorder) ICD9CM_2006:228.02 hemangioma of intracranial structures Angioma of intracranial Structure NCI2004_11_17:C3633 SNOMEDCT_2005_07_31:189196005 hemangioma of intracranial structures (disorder) SNOMEDCT_2005_07_31:93468003 hemangioma of intracranial structure (disorder) orchitis DOID:2518 ICD10CM:N45.2 Inflammation of testis (disorder) MSH:D009920 NCI:C97145 Orchititis SNOMEDCT_US_2015_03_01:197984006 SNOMEDCT_US_2015_03_01:197987004 SNOMEDCT_US_2015_03_01:197990005 SNOMEDCT_US_2015_03_01:274718005 SNOMEDCT_US_2015_03_01:29077001 SNOMEDCT_US_2015_03_01:297229006 SNOMEDCT_US_2015_03_01:367112009 UMLS_CUI:C0029191 disease_ontology Inflammation of testis (disorder) SNOMEDCT_2005_07_31:297229006 Orchititis SNOMEDCT_2005_07_31:274718005 testicular disease DOID:2519 MSH:D013733 NCI:C26890 SNOMEDCT_US_2015_03_01:236763001 SNOMEDCT_US_2015_03_01:297228003 SNOMEDCT_US_2015_03_01:64910008 UMLS_CUI:C0039584 disease_ontology disorder of testis testicular disorder testis disorder SNOMEDCT_2005_07_31:297228003 disorder of testis NCI2004_11_17:C26890 testicular disorder CSP2005:2587-6706 testis disorder alcoholic psychosis Alcoholic psychoses DOID:252 ICD9CM:291.9 MSH:D011604 SNOMEDCT_US_2015_03_01:154852003 SNOMEDCT_US_2015_03_01:191482008 SNOMEDCT_US_2015_03_01:192212000 SNOMEDCT_US_2015_03_01:268684002 SNOMEDCT_US_2015_03_01:42344001 UMLS_CUI:C0033936 disease_ontology Alcoholic psychoses SNOMEDCT_2005_07_31:154852003 abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium DOID:2523 DOID:2524 DOID:2813 DOID:2865 abnormal glucose tolerance of mother with delivery antepartum abnormal glucose tolerance of mother disease_ontology postpartum abnormal glucose tolerance of mother true prostate adenocarcinoma A prostate carcinoma that derives_from epithelial cells of glandular origin. DOID:2526 NCI:C2919 SNOMEDCT_US_2015_03_01:399490008 UMLS_CUI:C0007112 disease_ontology A prostate carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/prostatecancer url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Prostate_cancer nephrosis DOID:2527 MSH:D009401 SNOMEDCT_US_2015_03_01:90708001 UMLS_CUI:C0027720 disease_ontology myeloid metaplasia A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. DOID:2528 Myeloid metaplasia (morphologic abnormality) disease_ontology true A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. url:https://health.google.com/health/ref/Primary+myelofibrosis Myeloid metaplasia (morphologic abnormality) SNOMEDCT_2005_07_31:82513007 splenic disease DOID:0000815 DOID:2529 Dyssplenism ICD10CM:D73 ICD10CM:D73.9 ICD9CM:289.50 MSH:D013158 NCI:C35823 SNOMEDCT_US_2015_03_01:154839008 SNOMEDCT_US_2015_03_01:191381002 SNOMEDCT_US_2015_03_01:191385006 SNOMEDCT_US_2015_03_01:267570002 SNOMEDCT_US_2015_03_01:51244008 SNOMEDCT_US_2015_03_01:58381000 Spleen disease UMLS_CUI:C0037997 disease_ontology Dyssplenism SNOMEDCT_2005_07_31:58381000 SNOMEDCT_2005_07_31:267570002 Spleen disease splenic abscess DOID:2530 ICD10CM:D73.3 NCI:C35347 SNOMEDCT_US_2015_03_01:82053000 Splenic abscess Splenic abscess (disorder) UMLS_CUI:C0272412 disease_ontology NCI2004_11_17:C35347 Splenic abscess SNOMEDCT_2005_07_31:82053000 Splenic abscess (disorder) hematologic cancer An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. DOID:1034 DOID:2531 DOID:2532 Hematologic malignancy Hematologic malignancy (disorder) Hematologic neoplasm (disorder) Hematological tumors MSH:D019337 NCI:C27134 SNOMEDCT_US_2015_03_01:414388001 SNOMEDCT_US_2015_03_01:414644002 UMLS_CUI:C0376544 blood cancer disease_ontology hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm (morphologic abnormality) hematopoietic tumors malignant hematopoietic neoplasm (morphologic abnormality) Hematologic malignancy SNOMEDCT_2005_07_31:269475001 Hematologic malignancy (disorder) SNOMEDCT_2005_07_31:127221002 Hematological tumors NCI2004_11_17:C27134 SNOMEDCT_2005_07_31:414644002 malignant hematopoietic neoplasm (morphologic abnormality) NCI2004_11_17:C27134 hematopoietic tumors Hematologic neoplasm (disorder) SNOMEDCT_2005_07_31:129154003 CSP2005:2004-0139 blood cancer SNOMEDCT_2005_07_31:414388001 hematopoietic neoplasm (morphologic abnormality) An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. url:http://en.wikipedia.org/wiki/Blood_cancer url:http://www.cancer.gov/dictionary/?CdrID=45708 splenic infarction DOID:2533 ICD10CM:D73.5 MSH:D013159 SNOMEDCT_US_2015_03_01:154839008 SNOMEDCT_US_2015_03_01:22996003 SNOMEDCT_US_2015_03_01:267570002 Splenic infarct Splenic infarction Splenic infarction (disorder) UMLS_CUI:C0037998 disease_ontology SNOMEDCT_2005_07_31:22996003 Splenic infarction (disorder) SNOMEDCT_2005_07_31:267570002 Splenic infarct MTHICD9_2006:289.59 Splenic infarction SNOMEDCT_2005_07_31:154839008 Splenic infarct chronic inflammatory demyelinating polyneuritis DOID:2536 ICD10CM:G61.81 ICD9CM:357.81 SNOMEDCT_US_2015_03_01:444728005 UMLS_CUI:C0865502 disease_ontology inflammatory and toxic neuropathy DOID:2537 ICD9CM:357 ICD9CM:357.9 SNOMEDCT_US_2015_03_01:155060008 SNOMEDCT_US_2015_03_01:193172009 SNOMEDCT_US_2015_03_01:193204000 SNOMEDCT_US_2015_03_01:267601009 SNOMEDCT_US_2015_03_01:267603007 UMLS_CUI:C0154758 disease_ontology Landau-Kleffner syndrome DOID:2538 ICD10CM:G40.8 MSH:D018887 NCI:C84806 OMIM mapping confirmed by DO. [SN]. OMIM:245570 SNOMEDCT_US_2015_03_01:192567003 SNOMEDCT_US_2015_03_01:230438007 UMLS_CUI:C0282512 acquired epileptic aphasia disease_ontology SNOMEDCT_2005_07_31:192567003 acquired epileptic aphasia hemangioma of intra-abdominal structure DOID:254 ICD10CM:D18.03 ICD9CM:228.04 NCI:C3635 SNOMEDCT_US_2015_03_01:189197001 SNOMEDCT_US_2015_03_01:93467008 UMLS_CUI:C0154052 disease_ontology hemangioma of intra-abdominal structure (disorder) hemangioma of intra-abdominal structures hemangioma of intra-abdominal structures (disorder) hemangioma, Intra-abdominal ICD9CM_2006:228.04 hemangioma of intra-abdominal structures NCI2004_11_17:C3635 hemangioma, Intra-abdominal SNOMEDCT_2005_07_31:189197001 hemangioma of intra-abdominal structures (disorder) SNOMEDCT_2005_07_31:93467008 hemangioma of intra-abdominal structure (disorder) extratemporal epilepsy An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. DOID:2544 Extratemporal epilepsy Extratemporal epilepsy (disorder) NCI:C7760 SNOMEDCT_US_2015_03_01:111498005 UMLS_CUI:C0270849 disease_ontology Extratemporal epilepsy (disorder) SNOMEDCT_2005_07_31:111498005 An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. url:http://www.webmd.com/epilepsy/extratemporal-cortical-resection Extratemporal epilepsy NCI2004_11_17:C7760 congenital epilepsy DOID:2545 disease_ontology true atonic epilepsy Atonic epilepsy DOID:2546 Epileptic seizures - atonic (finding) disease_ontology true Epileptic seizures - atonic (finding) SNOMEDCT_2005_07_31:192981006 Atonic epilepsy NCI2004_11_17:C3485 intractable epilepsy DOID:2547 disease_ontology true reflex epilepsy DOID:2548 MSH:D020195 NCI:C85041 SNOMEDCT_US_2015_03_01:79745005 UMLS_CUI:C0270857 disease_ontology epilepsy, sensory-induced MTHICD9_2006:345.5 epilepsy, sensory-induced aggravated epilepsy DOID:2549 disease_ontology true hemangioma A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. DOID:255 ICD10CM:D18.0 ICD10CM:D18.00 ICD9CM:228.0 ICD9CM:228.00 MSH:D006391 NCI:C3085 SNOMEDCT_US_2015_03_01:154625006 SNOMEDCT_US_2015_03_01:189192007 SNOMEDCT_US_2015_03_01:189193002 SNOMEDCT_US_2015_03_01:189194008 SNOMEDCT_US_2015_03_01:189199003 SNOMEDCT_US_2015_03_01:189863005 SNOMEDCT_US_2015_03_01:2099007 SNOMEDCT_US_2015_03_01:253053003 SNOMEDCT_US_2015_03_01:254822005 SNOMEDCT_US_2015_03_01:269646001 SNOMEDCT_US_2015_03_01:367337005 SNOMEDCT_US_2015_03_01:400210000 SNOMEDCT_US_2015_03_01:93474003 UMLS_CUI:C0018916 disease_ontology A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. url:http://en.wikipedia.org/wiki/Hemangioma tactile epilepsy DOID:2550 NCI:C4687 SNOMEDCT_US_2015_03_01:230449001 Tactile epilepsy (disorder) UMLS_CUI:C0393724 disease_ontology SNOMEDCT_2005_07_31:230449001 Tactile epilepsy (disorder) anosognostic epilepsy DOID:2551 disease_ontology true granulomatous angiitis DOID:2555 MSH:D020293 NCI:C34653 UMLS_CUI:C0018202 disease_ontology relapsing polychondritis Chondromalacia, systemic DOID:2556 ICD10CM:M94.1 MSH:D011081 SNOMEDCT_US_2015_03_01:111256009 SNOMEDCT_US_2015_03_01:72275000 SNOMEDCT_US_2015_03_01:85780006 UMLS_CUI:C0032453 disease_ontology Chondromalacia, systemic MTHICD9_2006:733.92 chondromalacia DOID:2557 ICD10CM:M94.2 ICD10CM:M94.20 ICD9CM:733.92 MSH:D002357 SNOMEDCT_US_2015_03_01:203512007 SNOMEDCT_US_2015_03_01:63198006 UMLS_CUI:C0085700 disease_ontology opiate dependence A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. DOID:2559 ICD10CM:F11.2 ICD9CM:304.0 ICD9CM:304.00 MSH:D009293 Opioid type dependence SNOMEDCT_US_2015_03_01:191817000 SNOMEDCT_US_2015_03_01:191818005 SNOMEDCT_US_2015_03_01:192220003 SNOMEDCT_US_2015_03_01:75544000 UMLS_CUI:C0524662 disease_ontology A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opiate_dependency ICD9CM_2006:304.0 Opioid type dependence hemangioma of spleen DOID:256 NCI:C8541 SNOMEDCT_US_2015_03_01:93472004 Splenic hemangioma UMLS_CUI:C0685201 disease_ontology hemangioma of spleen (disorder) NCI2004_11_17:C8541 Splenic hemangioma SNOMEDCT_2005_07_31:93472004 hemangioma of spleen (disorder) morphine dependence An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. DOID:2560 MSH:D009021 SNOMEDCT_US_2015_03_01:191817000 SNOMEDCT_US_2015_03_01:231479000 SNOMEDCT_US_2015_03_01:286934009 UMLS_CUI:C0026552 disease_ontology An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence suppurative periapical periodontitis Apical abscess DOID:2562 Dentoalveolar abscess MSH:D010482 NCI:C34913 Periapical abscess (disorder) SNOMEDCT_US_2015_03_01:109603007 SNOMEDCT_US_2015_03_01:196341005 SNOMEDCT_US_2015_03_01:34597006 Suppurative apical periodontitis UMLS_CUI:C0031024 disease_ontology SNOMEDCT_2005_07_31:109603007 Suppurative apical periodontitis Apical abscess SNOMEDCT_2005_07_31:34597006 Periapical abscess (disorder) SNOMEDCT_2005_07_31:196341005 Dentoalveolar abscess NCI2004_11_17:C34913 Dentoalveolar abscess MTHICD9_2006:522.5 Serratia septicemia DOID:2563 Septicemia due to Serratia (disorder) Septicemia due to serratia disease_ontology true ICD9CM_2006:038.44 Septicemia due to serratia SNOMEDCT_2005_07_31:82091000 Septicemia due to Serratia (disorder) macular corneal dystrophy A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. DOID:2565 Fehr corneal dystrophy ICD10CM:H18.55 ICD9CM:371.55 MACULAR DYSTROPHY, CORNEAL, 1 MSH:D003317 NCI:C34793 OMIM:217800 SNOMEDCT_US_2015_03_01:60258001 UMLS_CUI:C0024439 disease_ontology A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy url:http://www.ncbi.nlm.nih.gov/pubmed/11017086 url:http://www.ncbi.nlm.nih.gov/pubmed/17093400 url:http://www.omim.org/entry/217800?search=217800&highlight=217800 corneal dystrophy DOID:2566 DOID:8944 ICD10CM:H18.5 ICD9CM:371.5 MSH:D003317 NCI:C34512 NCI:C34513 SNOMEDCT_US_2015_03_01:193831005 SNOMEDCT_US_2015_03_01:193832003 SNOMEDCT_US_2015_03_01:193842001 SNOMEDCT_US_2015_03_01:5587004 SNOMEDCT_US_2015_03_01:77797009 UMLS_CUI:C0010035 UMLS_CUI:C0010036 disease_ontology hereditary corneal dystrophy primary Enterobacteriaceae infectious disease DOID:2567 disease_ontology true cervicitis DOID:10110 DOID:2568 ICD10CM:N72 ICD9CM:616.0 MSH:D002575 NCI:C26716 SNOMEDCT_US_2015_03_01:155980007 SNOMEDCT_US_2015_03_01:198199009 SNOMEDCT_US_2015_03_01:198200007 SNOMEDCT_US_2015_03_01:198211004 SNOMEDCT_US_2015_03_01:237081003 SNOMEDCT_US_2015_03_01:266585004 SNOMEDCT_US_2015_03_01:266654000 SNOMEDCT_US_2015_03_01:37610005 SNOMEDCT_US_2015_03_01:80059007 UMLS_CUI:C0007860 UMLS_CUI:C0007861 cervicitis and endocervicitis disease_ontology retinal drusen Basal laminar drusen DOID:2569 ICD9CM:362.57 MSH:D015593 OMIM mapping confirmed by DO. [SN]. OMIM:126700 SNOMEDCT_US_2015_03_01:141199000 SNOMEDCT_US_2015_03_01:163999003 SNOMEDCT_US_2015_03_01:247153005 UMLS_CUI:C0035312 disease_ontology malignant histiocytic disease DOID:2570 MSH:D015620 SNOMEDCT_US_2015_03_01:127070008 UMLS_CUI:C0019613 disease_ontology Langerhans-cell histiocytosis A histiocytosis that is characterized by clonal proliferation of Langerhans cells. DOID:10617 DOID:10618 DOID:10620 DOID:10623 DOID:10624 DOID:10625 DOID:2553 DOID:2554 DOID:2571 DOID:9582 Histiocytosis X ICD10CM:C96.0 ICD10CM:C96.5 ICD10CM:C96.6 ICD9CM:202.5 Langerhan's cell histiocytosis (disorder) Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intra-abdominal lymph nodes (disorder) Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes (disorder) Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes (disorder) Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder) Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder) Letterer-Siwe disease of lymph nodes of head, face and neck (disorder) Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder) Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder) Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder) Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of lymph nodes of multiple sites (disorder) Letterer-Siwe disease of spleen Letterer-Siwe disease of spleen (disorder) MERGED COMMENT: TARGET COMMENT: OMIM mapping confirmed by DO. [SN]. -------------------- SOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. MSH:C538636 MSH:D006646 NCI:C3107 NCI:C3160 NCI:C6920 OMIM:246400 OMIM:604856 SNOMEDCT_US_2015_03_01:110450007 SNOMEDCT_US_2015_03_01:118614007 SNOMEDCT_US_2015_03_01:128809007 SNOMEDCT_US_2015_03_01:128811003 SNOMEDCT_US_2015_03_01:128812005 SNOMEDCT_US_2015_03_01:154583006 SNOMEDCT_US_2015_03_01:154773005 SNOMEDCT_US_2015_03_01:188654004 SNOMEDCT_US_2015_03_01:188655003 SNOMEDCT_US_2015_03_01:188659009 SNOMEDCT_US_2015_03_01:190955000 SNOMEDCT_US_2015_03_01:190956004 SNOMEDCT_US_2015_03_01:190960001 SNOMEDCT_US_2015_03_01:234439008 SNOMEDCT_US_2015_03_01:236957004 SNOMEDCT_US_2015_03_01:267510005 SNOMEDCT_US_2015_03_01:269628007 SNOMEDCT_US_2015_03_01:366059005 SNOMEDCT_US_2015_03_01:39795003 SNOMEDCT_US_2015_03_01:65399007 SNOMEDCT_US_2015_03_01:67574008 UMLS_CUI:C0019621 UMLS_CUI:C0023381 disease_ontology ICD9CM_2006:202.57 Letterer-Siwe disease involving spleen Letterer-Siwe disease of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188656002 Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93136003 CSP2005:0427-5330 Langerhans cell granulomatosis ICD9CM_2006:202.51 Letterer-Siwe disease involving lymph nodes of head, face, and neck ICD9CM_2006:202.56 Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188658001 Letterer-Siwe disease of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93139005 Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93138002 Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188657006 Letterer-Siwe disease of spleen (disorder) SNOMEDCT_2005_07_31:93140007 Letterer-Siwe disease of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93134000 Langerhan's cell histiocytosis (disorder) SNOMEDCT_2005_07_31:234439008 ICD9CM_2006:202.58 Letterer-Siwe disease involving lymph nodes of multiple sites ICD9CM_2006:202.55 Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb ICD9CM_2006:202.52 Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93133006 Letterer-Siwe disease of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93135004 A histiocytosis that is characterized by clonal proliferation of Langerhans cells. url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis ICD9CM_2006:202.54 Letterer-Siwe disease involving lymph nodes of axilla and upper limb Histiocytosis X SNOMEDCT_2005_07_31:269628007 ICD9CM_2006:202.53 Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93137007 drug-induced delirium DOID:2573 Drug-induced delirium (disorder) disease_ontology true Drug-induced delirium (disorder) SNOMEDCT_2005_07_31:191492000 diabetes mellitus insulin dependent type uncontrolled with renal manifestations DOID:2574 Diabetes mellitus juvenile type, uncontrolled, with renal manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations disease_ontology true Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations ICD9CM_2006:250.43 Diabetes mellitus juvenile type, uncontrolled, with renal manifestations MTHICD9_2006:250.43 barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. DOID:2575 ICD9CM:304.11 SNOMEDCT:231472009 UMLS_CUI:C0154482 disease_ontology A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Barbiturate_dependence rhizomelic chondrodysplasia punctata A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. DOID:2580 ICD10CM:E71.540 MSH:D018902 NCI:C85047 OMIM mapping confirmed by DO. [SN]. OMIM:215100 OMIM:222765 OMIM:600121 ORDO:177 SNOMEDCT_US_2015_03_01:56692003 UMLS_CUI:C0282529 disease_ontology A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata url:http://www.healthline.com/galecontent/rhizomelic-chondrodysplasia-punctata chondrodysplasia punctata Chondrodysplasia calcificans congenita Chondrodysplasia punctata congenita (disorder) DOID:2581 DeObs MGI. ICD10CM:Q77.3 MSH:D002806 NCI:C84632 OMIM:215105 SNOMEDCT_US_2015_03_01:205486004 SNOMEDCT_US_2015_03_01:22932004 SNOMEDCT_US_2015_03_01:278715001 SNOMEDCT_US_2015_03_01:360507004 SNOMEDCT_US_2015_03_01:42778005 UMLS_CUI:C0008445 disease_ontology Chondrodysplasia calcificans congenita SNOMEDCT_2005_07_31:22932004 Chondrodysplasia punctata congenita (disorder) SNOMEDCT_2005_07_31:360507004 acatalasia DOID:2582 MSH:D020642 NCI:C84526 OMIM:614097 SNOMEDCT_US_2015_03_01:111393000 SNOMEDCT_US_2015_03_01:190954001 SNOMEDCT_US_2015_03_01:267454002 UMLS_CUI:C0268419 deficiency of catalase (disorder) disease_ontology SNOMEDCT_2005_07_31:124202004 deficiency of catalase (disorder) agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins. DOID:2583 DOID:618 ICD10CM:D80.1 ICD9CM:279.00 IGHM MSH:D000361 NCI:C26931 OMIM mapping confirmed by DO. [SN]. OMIM:601495 OMIM:612692 OMIM:613500 OMIM:613501 OMIM:613502 OMIM:613506 OMIM:615214 SNOMEDCT_US_2015_03_01:119249001 SNOMEDCT_US_2015_03_01:119250001 SNOMEDCT_US_2015_03_01:190977001 SNOMEDCT_US_2015_03_01:190978006 SNOMEDCT_US_2015_03_01:267512002 SNOMEDCT_US_2015_03_01:81282009 UMLS_CUI:C0001768 UMLS_CUI:C0086438 disease_ontology hypogammaglobulinemia mu heavy chain deficiency A B cell deficiency that is caused by a reduction in all types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia CSP2005:0449-3787 hypogammaglobulinemia nephrotic syndrome with lesion of endothelial glomerulonephritis DOID:2584 disease_ontology true nephrotic syndrome with lesion of segmental hyalinosis DOID:2585 disease_ontology true nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis DOID:2586 Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis disease_ontology true NCI2004_11_17:C35536 Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis DOID:2587 Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis disease_ontology true NCI2004_11_17:C35539 Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis nephrotic syndrome with lesion of persistent glomerulonephritis DOID:2588 Nephrotic syndrome with Lesion of Persistent Glomerulonephritis disease_ontology true NCI2004_11_17:C35537 Nephrotic syndrome with Lesion of Persistent Glomerulonephritis nephrotic syndrome with lesion of membranous glomerulonephritis DOID:2589 Nephrotic syndrome with lesion of membranous glomerulonephritis disease_ontology true ICD9CM_2006:581.1 Nephrotic syndrome with lesion of membranous glomerulonephritis abortion complicated by embolism DOID:259 disease_ontology true familial nephrotic syndrome Congenital Nephrotic syndrome Congenital nephrotic syndrome (disorder) Congenital nephrotic syndrome NOS (disorder) DOID:2590 ICD10CM:N04 NCI:C35337 SNOMEDCT_US_2015_03_01:197602005 SNOMEDCT_US_2015_03_01:48796009 UMLS_CUI:C0268713 disease_ontology Congenital Nephrotic syndrome NCI2004_11_17:C35337 Congenital nephrotic syndrome NOS (disorder) SNOMEDCT_2005_07_31:197602005 Congenital nephrotic syndrome (disorder) SNOMEDCT_2005_07_31:48796009 nephrotic syndrome with lesion of lobular glomerulonephritis DOID:2591 Nephrotic syndrome with Lesion of Lobular Glomerulonephritis disease_ontology true NCI2004_11_17:C35538 Nephrotic syndrome with Lesion of Lobular Glomerulonephritis nephrotic syndrome with lesion of focal glomerulosclerosis DOID:2592 Nephrotic syndrome with Lesion of Focal Glomerulosclerosis disease_ontology true NCI2004_11_17:C35533 Nephrotic syndrome with Lesion of Focal Glomerulosclerosis glottis cancer Ca larynx - glottis Ca larynx - glottis (disorder) DOID:2595 ICD10CM:C32.0 ICD9CM:161.0 NCI:C3544 SNOMEDCT_US_2015_03_01:154481005 SNOMEDCT_US_2015_03_01:187841006 SNOMEDCT_US_2015_03_01:269557000 UMLS_CUI:C0153483 disease_ontology malignant tumor of glottis (disorder) malignant tumor of the Glottis Ca larynx - glottis SNOMEDCT_2005_07_31:154481005 NCI2004_11_17:C3544 malignant tumor of the Glottis Ca larynx - glottis (disorder) SNOMEDCT_2005_07_31:269557000 SNOMEDCT_2005_07_31:187841006 malignant tumor of glottis (disorder) larynx cancer A respiratory system cancer that is located_in the larynx. DOID:2596 ICD10CM:C32 ICD10CM:C32.9 ICD9CM:161 ICD9CM:161.9 MSH:D007822 NCI:C7484 SNOMEDCT_US_2015_03_01:154484002 SNOMEDCT_US_2015_03_01:187851007 SNOMEDCT_US_2015_03_01:269560007 SNOMEDCT_US_2015_03_01:363429002 SNOMEDCT_US_2015_03_01:93859007 UMLS_CUI:C0007107 disease_ontology A respiratory system cancer that is located_in the larynx. url:http://en.wikipedia.org/wiki/Larynx glottis neoplasm DOID:2597 NCI:C4425 SNOMEDCT_US_2015_03_01:126693009 UMLS_CUI:C0345713 disease_ontology neoplasm of glottis (disorder) tumor of the Glottis NCI2004_11_17:C4425 tumor of the Glottis SNOMEDCT_2005_07_31:126693009 neoplasm of glottis (disorder) laryngeal benign neoplasm DOID:2598 MSH:D007822 NCI:C3156 SNOMEDCT_US_2015_03_01:126692004 UMLS_CUI:C0023055 disease_ontology laryngeal tumor larynx neoplasm neoplasm of larynx (disorder) NCI2004_11_17:C3156 laryngeal tumor SNOMEDCT_2005_07_31:126692004 neoplasm of larynx (disorder) CSP2005:2017-5694 larynx neoplasm glottis carcinoma DOID:2599 Glottic carcinoma NCI:C4923 SNOMEDCT_US_2015_03_01:372103002 UMLS_CUI:C0740083 carcinoma of glottis (disorder) disease_ontology Glottic carcinoma NCI2004_11_17:C4923 SNOMEDCT_2005_07_31:372103002 carcinoma of glottis (disorder) pancreas disease An endocrine system disease that is located_in the pancreas. DOID:26 ICD10CM:K86.8 ICD9CM:577.8 SNOMEDCT_US_2015_03_01:197566002 UMLS_CUI:C0029771 disease_ontology An endocrine system disease that is located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic_disease hepatic flexure cancer Ca hepatic flexure - colon Ca hepatic flexure - colon (disorder) DOID:260 ICD10CM:C18.3 ICD9CM:153.0 SNOMEDCT_US_2015_03_01:154455006 SNOMEDCT_US_2015_03_01:269534006 SNOMEDCT_US_2015_03_01:363407001 SNOMEDCT_US_2015_03_01:93826009 UMLS_CUI:C0153433 disease_ontology malignant neoplasm of hepatic flexure malignant tumor of hepatic flexure (disorder) Ca hepatic flexure - colon SNOMEDCT_2005_07_31:154455006 SNOMEDCT_2005_07_31:363407001 malignant tumor of hepatic flexure (disorder) ICD9CM_2006:153.0 malignant neoplasm of hepatic flexure Ca hepatic flexure - colon (disorder) SNOMEDCT_2005_07_31:269534006 laryngeal carcinoma A larynx cancer that has_material_basis_in epithelial cells. DOID:2600 NCI:C4855 SNOMEDCT_US_2015_03_01:154480006 SNOMEDCT_US_2015_03_01:276975007 SNOMEDCT_US_2015_03_01:93859007 UMLS_CUI:C0595989 cancer of Larynx cancer of larynx carcinoma of larynx (disorder) disease_ontology NCI2004_11_17:C4855 cancer of Larynx A larynx cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma SNOMEDCT_2005_07_31:276975007 carcinoma of larynx (disorder) SNOMEDCT_2005_07_31:93859007 cancer of larynx juxtacortical chondroma DOID:2601 Juxtacortical chondroma (morphologic abnormality) NCI:C4302 Periosteal Chondroma SNOMEDCT_US_2015_03_01:9266000 UMLS_CUI:C0334548 disease_ontology NCI2004_11_17:C4302 Periosteal Chondroma Juxtacortical chondroma (morphologic abnormality) SNOMEDCT_2005_07_31:9266000 chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. Chondroma (morphologic abnormality) Chondroma NOS (morphologic abnormality) DOID:2602 MSH:D002812 NCI:C53459 SNOMEDCT_US_2015_03_01:154611005 SNOMEDCT_US_2015_03_01:187899007 SNOMEDCT_US_2015_03_01:188980001 SNOMEDCT_US_2015_03_01:189885004 SNOMEDCT_US_2015_03_01:269638002 SNOMEDCT_US_2015_03_01:31186001 UMLS_CUI:C0936248 central Chondroma disease_ontology NCI2004_11_17:C3007 central Chondroma Chondroma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189885004 Chondroma (morphologic abnormality) SNOMEDCT_2005_07_31:31186001 A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. url:http://en.wikipedia.org/wiki/Chondroma adenomyoma A carcinosarcoma that has_material_basis_in gland and muscle components. DOID:2609 MSH:D018194 NCI:C3726 SNOMEDCT_US_2015_03_01:40293003 UMLS_CUI:C0206622 adenomyoma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:40293003 adenomyoma (morphologic abnormality) A carcinosarcoma that has_material_basis_in gland and muscle components. url:http://en.wikipedia.org/wiki/Adenomyoma transverse colon cancer Ca transverse colon Ca transverse colon (disorder) DOID:261 ICD10CM:C18.4 ICD9CM:153.1 SNOMEDCT_US_2015_03_01:154456007 SNOMEDCT_US_2015_03_01:269535007 SNOMEDCT_US_2015_03_01:363408006 SNOMEDCT_US_2015_03_01:94105000 UMLS_CUI:C0153434 disease_ontology malignant tumor of transverse colon (disorder) Ca transverse colon SNOMEDCT_2005_07_31:154456007 Ca transverse colon (disorder) SNOMEDCT_2005_07_31:269535007 SNOMEDCT_2005_07_31:363408006 malignant tumor of transverse colon (disorder) serous surface papilloma DOID:2614 NCI:C4181 SNOMEDCT_US_2015_03_01:189689007 SNOMEDCT_US_2015_03_01:67073007 UMLS_CUI:C0334360 disease_ontology serous Surface papilloma serous surface papilloma (morphologic abnormality) serous surface papilloma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:67073007 serous surface papilloma (morphologic abnormality) NCI2004_11_17:C4181 serous Surface papilloma SNOMEDCT_2005_07_31:189689007 serous surface papilloma NOS (morphologic abnormality) papilloma A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. DOID:1635 DOID:2615 MSH:D010212 NCI:C3713 NCI:C7440 SNOMEDCT_US_2015_03_01:189564006 SNOMEDCT_US_2015_03_01:23730008 SNOMEDCT_US_2015_03_01:82049002 UMLS_CUI:C0030354 UMLS_CUI:C0205875 disease_ontology papilloma (except papilloma of bladder M-81201) (morphologic abnormality) papillomatosis papillomatosis NOS (morphologic abnormality) papillomatosis, NOS SNOMEDCT_2005_07_31:23730008 papilloma (except papilloma of bladder M-81201) (morphologic abnormality) SNOMEDCT_2005_07_31:82049002 papillomatosis, NOS A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. url:http://www.merriam-webster.com/medlineplus/papilloma SNOMEDCT_2005_07_31:189564006 papillomatosis NOS (morphologic abnormality) Wolffian duct adenoma DOID:2616 Mesonephric adenoma Mesonephroma, benign (morphologic abnormality) NCI:C4294 SNOMEDCT_US_2015_03_01:72889001 UMLS_CUI:C0334530 Wolffian duct adenoma disease_ontology Mesonephric adenoma NCI2004_11_17:C4294 Mesonephroma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:72889001 kidney hemangiopericytoma A kidney cancer which is manifested in the kidney. DOID:262 NCI:C4527 SNOMEDCT_US_2015_03_01:254923001 UMLS_CUI:C0346256 disease_ontology hemangiopericytoma of kidney (disorder) renal hemangiopericytoma NCI2004_11_17:C4527 renal hemangiopericytoma A kidney cancer which is manifested in the kidney. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/ SNOMEDCT_2005_07_31:254923001 hemangiopericytoma of kidney (disorder) ductal, lobular, and medullary neoplasm DOID:2620 disease_ontology ductal, lobular and medullary neoplasm (morphologic abnormality) ductal, lobular and medullary tumor (qualifier value) true SNOMEDCT_2005_07_31:189704005 ductal, lobular and medullary neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:134321001 ductal, lobular and medullary tumor (qualifier value) autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system. DOID:2621 NCI:C5112 UMLS_CUI:C1332356 disease_ontology tumor of Autonomic nervous system NCI2004_11_17:C5112 tumor of Autonomic nervous system A peripheral nervous system neoplasm that is located_in the autonomic nervous system. url:http://en.wikipedia.org/wiki/Autonomic_nervous_system neuroblastic tumor DOID:2622 disease_ontology true neuronal and glio-neuronal neoplasm DOID:2623 disease_ontology neuronal and Glio-neuronal tumor neuronal and mixed neuronal-glial tumor (morphologic abnormality) true SNOMEDCT_2005_07_31:302831000 neuronal and mixed neuronal-glial tumor (morphologic abnormality) NCI2004_11_17:C4747 neuronal and Glio-neuronal tumor choroid plexus papilloma Choroid plexus papilloma NOS (morphologic abnormality) Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality) DOID:2626 DOID:3661 MSH:D020288 NCI:C3698 NCI:C5800 OMIM mapping confirmed by DO. [SN]. OMIM:260500 SNOMEDCT_US_2015_03_01:18021007 SNOMEDCT_US_2015_03_01:189911002 UMLS_CUI:C0205770 UMLS_CUI:C1332963 childhood choroid plexus papilloma childhood papilloma of choroid plexus disease_ontology papilloma of the Choroid Plexus pediatric papilloma of Choroid Plexus Choroid plexus papilloma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189911002 NCI2004_11_17:C5800 pediatric papilloma of Choroid Plexus NCI2004_11_17:C3698 papilloma of the Choroid Plexus Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:18021007 papillary serous cystadenoma DOID:2629 Papillary serous cystadenoma (morphologic abnormality) Papillary serous cystadenoma NOS (morphologic abnormality) disease_ontology true Papillary serous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:22116003 Papillary serous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189688004 kidney cancer A urinary system cancer that is located_in the kidney. DOID:11834 DOID:263 DOID:3676 ICD10CM:C64 ICD9CM:189.0 MSH:D007680 NCI:C3150 NCI:C7548 SNOMEDCT_US_2015_03_01:126880001 SNOMEDCT_US_2015_03_01:154542008 SNOMEDCT_US_2015_03_01:188249002 SNOMEDCT_US_2015_03_01:363518003 SNOMEDCT_US_2015_03_01:93849006 UMLS_CUI:C0022665 UMLS_CUI:C0494158 UMLS_CUI:C0740457 disease_ontology malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer SNOMEDCT_2005_07_31:154542008 malignant tumour of kidney A urinary system cancer that is located_in the kidney. url:http://en.wikipedia.org/wiki/Kidney_cancer papillary cystadenoma DOID:2630 Papillary Cystadenoma Papillary cystadenoma (morphologic abnormality) Papillary cystadenoma NOS (morphologic abnormality) disease_ontology true Papillary cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189686000 Papillary cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:32140001 NCI2004_11_17:C2974 Papillary Cystadenoma serous cystadenoma DOID:2631 disease_ontology serous Cystoma serous cystadenoma NOS (morphologic abnormality) serous microcystic adenoma true SNOMEDCT_2005_07_31:189684002 serous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:51608009 serous microcystic adenoma NCI2004_11_17:C3783 serous Cystoma papillary serous adenocarcinoma A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. DOID:2632 DOID:5589 Micropapillary serous carcinoma NCI:C4182 NCI:C6882 NCI:C8377 Papillary serous carcinoma SNOMEDCT_US_2015_03_01:15674004 SNOMEDCT_US_2015_03_01:90282004 UMLS_CUI:C0334359 UMLS_CUI:C0334361 disease_ontology serous surface papillary carcinoma serous surface papillary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:15674004 serous surface papillary carcinoma (morphologic abnormality) NCI2004_11_17:C8377 Papillary serous carcinoma A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. url:http://www.uptodate.com/contents/topic.do?topicKey=OBGYN/3192 Micropapillary serous carcinoma NCI2004_11_17:C6882 Micropapillary serous carcinoma SNOMEDCT_2005_07_31:90282004 mucinous cystadenoma DOID:2633 disease_ontology mucinous adenoma mucinous adenoma (morphologic abnormality) mucinous cystadenoma mucinous cystadenoma (morphologic abnormality) true SNOMEDCT_2005_07_31:33170000 mucinous adenoma (morphologic abnormality) NCI2004_11_17:C2973 mucinous adenoma SNOMEDCT_2005_07_31:67182003 mucinous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189691004 mucinous cystadenoma cystadenoma An adenoma that is a cystic. Cystadenoma (morphologic abnormality) Cystoma DOID:2634 MSH:D003537 NCI:C2972 SNOMEDCT_US_2015_03_01:189680006 SNOMEDCT_US_2015_03_01:47620003 UMLS_CUI:C0010633 disease_ontology Cystoma NCI2004_11_17:C2972 An adenoma that is a cystic. url:http://en.wikipedia.org/wiki/Cystadenoma Cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:47620003 mucinous neoplasm DOID:2635 disease_ontology mucinous tumor true ovarian Brenner tumor Brenner tumor (morphologic abnormality) Brenner tumor NOS (morphologic abnormality) Brenner tumor of ovary (disorder) Brenner tumors (morphologic abnormality) DOID:2636 MSH:D001948 NCI:C3872 NCI:C39954 Ovarian Brenner tumor SNOMEDCT_US_2015_03_01:189818009 SNOMEDCT_US_2015_03_01:189819001 SNOMEDCT_US_2015_03_01:254859006 SNOMEDCT_US_2015_03_01:74739000 UMLS_CUI:C0006160 disease_ontology Brenner tumor of ovary (disorder) SNOMEDCT_2005_07_31:254859006 Brenner tumor (morphologic abnormality) SNOMEDCT_2005_07_31:74739000 NCI2004_11_17:C3872 Ovarian Brenner tumor Brenner tumors (morphologic abnormality) SNOMEDCT_2005_07_31:189818009 Brenner tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189819001 breast pericanalicular fibroadenoma DOID:2639 NCI:C4272 Pericanalicular Fibroadenoma of breast Pericanalicular fibroadenoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:41382006 UMLS_CUI:C0334497 disease_ontology Pericanalicular fibroadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:41382006 NCI2004_11_17:C4272 Pericanalicular Fibroadenoma of breast hemangiopericytoma A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. DOID:264 DOID:5372 Haemangiopericytic meningioma [obs] MSH:D006393 NCI:C3087 SNOMEDCT_US_2015_03_01:134335004 SNOMEDCT_US_2015_03_01:36060005 UMLS_CUI:C0018922 disease_ontology hemangiopericytoma, malignant (morphologic abnormality) malignant hemangiopericytoma A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. url:http://en.wikipedia.org/wiki/Hemangiopericytoma Haemangiopericytic meningioma [obs] SNOMEDCT_2005_07_31:36060005 SNOMEDCT_2005_07_31:84664004 hemangiopericytoma, malignant (morphologic abnormality) struma ovarii DOID:2640 MSH:D013330 NCI:C7468 SNOMEDCT_US_2015_03_01:189851000 SNOMEDCT_US_2015_03_01:24327009 Struma ovarii (morphologic abnormality) Struma ovarii NOS (morphologic abnormality) UMLS_CUI:C0038478 disease_ontology SNOMEDCT_2005_07_31:189851000 Struma ovarii NOS (morphologic abnormality) SNOMEDCT_2005_07_31:24327009 Struma ovarii (morphologic abnormality) ovarian germ cell monodermal and highly specialized teratoma DOID:2641 NCI:C8113 Ovarian Monodermal and Highly Specialized teratoma UMLS_CUI:C0280134 disease_ontology NCI2004_11_17:C8113 Ovarian Monodermal and Highly Specialized teratoma lymphangiomyoma DOID:2642 Lymphangioleiomyoma Lymphangiomyoma (morphologic abnormality) disease_ontology true Lymphangioleiomyoma NCI2004_11_17:C3204 Lymphangiomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:25239006 perivascular epithelioid cell tumor DOID:2643 MSH:D054973 NCI:C38150 PEComa SNOMEDCT_US_2015_03_01:388601000 UMLS_CUI:C1300127 disease_ontology neoplasm with Perivascular epithelioid cell differentiation NCI2004_11_17:C38150 neoplasm with Perivascular epithelioid cell differentiation benign mesothelioma A cell type benign neoplasm that has_material_basis in mesothelium. DOID:2644 DOID:2645 ICD10CM:C45 ICD10CM:C45.9 MSH:D008654 NCI:C3234 SNOMEDCT_US_2015_03_01:154491004 SNOMEDCT_US_2015_03_01:187873000 SNOMEDCT_US_2015_03_01:189837000 SNOMEDCT_US_2015_03_01:190110008 SNOMEDCT_US_2015_03_01:62064005 UMLS_CUI:C0025500 benign tumor of Mesothelium disease_ontology NCI2004_11_17:C4280 benign tumor of Mesothelium A cell type benign neoplasm that has_material_basis in mesothelium. url:http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817 parachordoma DOID:2647 NCI:C6581 Parachordoma (disorder) Parachordoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128786009 SNOMEDCT_US_2015_03_01:404086000 UMLS_CUI:C1266175 disease_ontology Parachordoma (disorder) SNOMEDCT_2005_07_31:404086000 Parachordoma (morphologic abnormality) SNOMEDCT_2005_07_31:128786009 sebaceous adenoma DOID:2648 DOID:7387 NCI2009_04D:C4174 NCI:C4174 SNOMEDCT_US_2015_03_01:78424008 Sebaceous adenoma (morphologic abnormality) UMLS_CUI:C1368816 adenoma of the Sebaceous gland disease_ontology skin appendage sebaceous adenoma NCI2004_11_17:C4174 adenoma of the Sebaceous gland SNOMEDCT_2005_07_31:78424008 Sebaceous adenoma (morphologic abnormality) chondroblastoma Chondroblastoma of bone DOID:2649 MSH:D002804 NCI:C2945 SNOMEDCT_US_2015_03_01:134337007 SNOMEDCT_US_2015_03_01:189887007 SNOMEDCT_US_2015_03_01:9001003 UMLS_CUI:C0008441 disease_ontology Chondroblastoma of bone SNOMEDCT_2005_07_31:134337007 spleen angiosarcoma An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. DOID:265 NCI:C4564 SNOMEDCT_US_2015_03_01:187821001 Splenic hemangiosarcoma UMLS_CUI:C0346424 angiosarcoma of spleen (disorder) disease_ontology SNOMEDCT_2005_07_31:187821001 angiosarcoma of spleen (disorder) NCI2004_11_17:C4564 Splenic hemangiosarcoma An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. url:http://radiology.rsna.org/content/235/1/106.full intraductal papillomatosis DOID:2651 Intraductal papillomatosis Intraductal papillomatosis (morphologic abnormality) Intraductal papillomatosis NOS (morphologic abnormality) disease_ontology true Intraductal papillomatosis NCI2004_11_17:C7363 Intraductal papillomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189710005 Intraductal papillomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:32296002 benign fibrous mesothelioma DOID:2653 MSH:D054363 NCI:C4457 SNOMEDCT_US_2015_03_01:15702005 SNOMEDCT_US_2015_03_01:254646001 UMLS_CUI:C0334511 disease_ontology fibrous mesothelioma, benign (morphologic abnormality) localized benign fibrous Mesothelioma SNOMEDCT_2005_07_31:15702005 fibrous mesothelioma, benign (morphologic abnormality) NCI2004_11_17:C4281 localized benign fibrous Mesothelioma serous neoplasm DOID:2654 disease_ontology true breast intracanalicular fibroadenoma DOID:2656 NCI:C4271 SNOMEDCT_US_2015_03_01:189821006 SNOMEDCT_US_2015_03_01:72905006 UMLS_CUI:C0334496 disease_ontology dermoid cyst DOID:2658 Dermoid choristoma Dermoid tumour ICD10CM:K09.8 MSH:D003884 Mature cystic teratoma NCI:C9011 SNOMEDCT_US_2015_03_01:123151001 SNOMEDCT_US_2015_03_01:189117002 SNOMEDCT_US_2015_03_01:189845005 SNOMEDCT_US_2015_03_01:269641006 SNOMEDCT_US_2015_03_01:416529009 SNOMEDCT_US_2015_03_01:417137001 SNOMEDCT_US_2015_03_01:417609007 SNOMEDCT_US_2015_03_01:419952004 SNOMEDCT_US_2015_03_01:439575008 SNOMEDCT_US_2015_03_01:72277008 UMLS_CUI:C0011649 cystic dermoid choristoma disease_ontology teratoma, benign teratoma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:42717009 teratoma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:416529009 cystic dermoid choristoma Dermoid choristoma SNOMEDCT_2005_07_31:417137001 SNOMEDCT_2005_07_31:189119004 teratoma, benign Dermoid tumour SNOMEDCT_2005_07_31:417609007 Mature cystic teratoma NCI2004_11_17:C9011 malignant soft tissue neoplasm of the spleen DOID:266 disease_ontology malignant soft tissue tumor of Spleen true NCI2004_11_17:C7292 malignant soft tissue tumor of Spleen cystic teratoma DOID:2660 NCI:C9014 SNOMEDCT_US_2015_03_01:42717009 UMLS_CUI:C1368903 disease_ontology myoepithelioma A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. DOID:2661 MSH:D009208 Myoepithelial adenoma Myoepithelial neoplasm NCI:C40392 SNOMEDCT_US_2015_03_01:69291002 UMLS_CUI:C0027070 benign myoepithelioma disease_ontology NCI2004_11_17:C7442 benign myoepithelioma Myoepithelial neoplasm NCI2004_11_17:C40392 A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. url:http://medical-dictionary.thefreedictionary.com/myoepithelioma Myoepithelial adenoma SNOMEDCT_2005_07_31:69291002 sweat gland neoplasm DOID:2664 MSH:D013544 NCI:C3398 SNOMEDCT_US_2015_03_01:126490003 SNOMEDCT_US_2015_03_01:12933008 SNOMEDCT_US_2015_03_01:189665000 Sweat gland tumor (morphologic abnormality) Sweat gland tumor NOS (morphologic abnormality) UMLS_CUI:C0038987 disease_ontology neoplasm of sweat gland (disorder) tumor of the Sweat gland SNOMEDCT_2005_07_31:126490003 neoplasm of sweat gland (disorder) SNOMEDCT_2005_07_31:189665000 Sweat gland tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:12933008 Sweat gland tumor (morphologic abnormality) NCI2004_11_17:C3398 tumor of the Sweat gland benign mesenchymoma DOID:2667 Mesenchymoma, benign (morphologic abnormality) NCI:C4267 SNOMEDCT_US_2015_03_01:38406003 UMLS_CUI:C0334491 disease_ontology Mesenchymoma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:38406003 mesenchymoma DOID:2668 MSH:D008637 NCI:C3233 SNOMEDCT_US_2015_03_01:189809007 SNOMEDCT_US_2015_03_01:44524009 UMLS_CUI:C0025464 disease_ontology Pacinian tumor DOID:2669 NCI:C4328 Pacinian Neurofibroma Pacinian neurofibroma (disorder) Pacinian tumor (morphologic abnormality) SNOMEDCT_US_2015_03_01:404033003 SNOMEDCT_US_2015_03_01:4230004 UMLS_CUI:C0334599 disease_ontology Pacinian neurofibroma (disorder) SNOMEDCT_2005_07_31:404033003 NCI2004_11_17:C4328 Pacinian Neurofibroma Pacinian tumor (morphologic abnormality) SNOMEDCT_2005_07_31:4230004 transitional papilloma DOID:2670 NCI:C4115 SNOMEDCT_US_2015_03_01:189575005 SNOMEDCT_US_2015_03_01:44342003 SNOMEDCT_US_2015_03_01:45083001 UMLS_CUI:C0334266 disease_ontology transitional cell papilloma transitional cell papilloma NOS (morphologic abnormality) transitional cell papilloma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:45083001 transitional cell papilloma SNOMEDCT_2005_07_31:44342003 transitional cell papilloma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:189575005 transitional cell papilloma NOS (morphologic abnormality) transitional cell carcinoma A carcinoma that derives_from transitional epithelial cells. DOID:2671 DOID:3995 MSH:D002295 NCI:C2930 NCI:C6783 SNOMEDCT_US_2015_03_01:118287003 SNOMEDCT_US_2015_03_01:189576006 SNOMEDCT_US_2015_03_01:27090000 UMLS_CUI:C0007138 UMLS_CUI:C0334265 disease_ontology transitional carcinoma transitional cell neoplasm transitional cell tumor urothelial cell carcinoma NCI2004_11_17:C2930 transitional carcinoma A carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma NCI2004_11_17:C6783 transitional cell tumor cystic nephroma DOID:2673 disease_ontology papillary pseudomucinous cystadenoma DOID:2676 Papillary mucinous cystadenoma (morphologic abnormality) Papillary mucinous cystadenoma NOS (morphologic abnormality) disease_ontology true Papillary mucinous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189693001 Papillary mucinous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:36721002 adult mesoblastic nephroma A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. DOID:2678 MEST NCI:C37263 NCI:C37264 SNOMEDCT_US_2015_03_01:388985009 UMLS_CUI:C1272677 benign MEST disease_ontology mixed epithelial and stromal tumour of kidney MEST NCI2004_11_17:C37263 SNOMEDCT_2005_07_31:388985009 mixed epithelial and stromal tumour of kidney A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. url:http://www.ncbi.nlm.nih.gov/pubmed/9669345 NCI2004_11_17:C37264 benign MEST dysembryoplastic neuroepithelial tumor DOID:2679 Dysembryoplastic Neuroepithelial neoplasm Dysembryoplastic neuroepithelial tumor (morphologic abnormality) NCI:C9505 SNOMEDCT_US_2015_03_01:128788005 UMLS_CUI:C1266177 disease_ontology Dysembryoplastic neuroepithelial tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128788005 Dysembryoplastic Neuroepithelial neoplasm NCI2004_11_17:C9505 liver angiosarcoma An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. DOID:268 ICD10CM:C22.3 NCI:C4438 SNOMEDCT_US_2015_03_01:109844006 SNOMEDCT_US_2015_03_01:187770005 UMLS_CUI:C0345907 angiosarcoma of liver angiosarcoma of liver (disorder) disease_ontology hemangiosarcoma of the Liver An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. url:http://emedicine.medscape.com/article/276512-overview SNOMEDCT_2005_07_31:187770005 angiosarcoma of liver SNOMEDCT_2005_07_31:109844006 angiosarcoma of liver (disorder) NCI2004_11_17:C4438 hemangiosarcoma of the Liver pediatric central nervous system tumor DOID:2680 disease_ontology pediatric neoplasm of CNS true NCI2004_11_17:C5132 pediatric neoplasm of CNS nevus DOID:2681 Mole NOS Mole of skin disease_ontology nevus nevus (disorder) nevus, NOS skin mole, NOS true CSP2005:0726-9782 nevus SNOMEDCT_2005_07_31:21119008 nevus, NOS MTHICD9_2006:631 Mole NOS SNOMEDCT_2005_07_31:247456007 nevus (disorder) SNOMEDCT_2005_07_31:51697005 skin mole, NOS Mole of skin SNOMEDCT_2005_07_31:109265005 MTH:NOCODE nevus Mole of skin SNOMEDCT_2005_07_31:189051001 intracystic papillary adenoma DOID:2682 Intracystic papillary adenoma (morphologic abnormality) Intracystic papilloma NCI:C4191 SNOMEDCT_US_2015_03_01:47488001 UMLS_CUI:C0334374 disease_ontology Intracystic papilloma NCI2004_11_17:C4191 Intracystic papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:47488001 adenofibroma A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. DOID:2683 MSH:D000232 NCI:C8984 SNOMEDCT_US_2015_03_01:189823009 SNOMEDCT_US_2015_03_01:2962009 UMLS_CUI:C0001422 adenofibroma, no ICD-O subtype (morphologic abnormality) disease_ontology A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. url:http://www.ncbi.nlm.nih.gov/mesh/68000232 SNOMEDCT_2005_07_31:2962009 adenofibroma, no ICD-O subtype (morphologic abnormality) ossifying fibromyxoid tumor DOID:2685 NCI:C6582 Ossifying Fibromyxoma Ossifying fibromyxoid tumor (disorder) Ossifying fibromyxoid tumor (morphologic abnormality) SNOMEDCT_US_2015_03_01:128745002 SNOMEDCT_US_2015_03_01:404076001 UMLS_CUI:C1266128 disease_ontology Ossifying fibromyxoid tumor (disorder) SNOMEDCT_2005_07_31:404076001 NCI2004_11_17:C6582 Ossifying Fibromyxoma Ossifying fibromyxoid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128745002 skin sarcoma Cutaneous sarcoma DOID:2687 NCI:C5585 UMLS_CUI:C0856900 disease_ontology Cutaneous sarcoma NCI2004_11_17:C5585 lymphangiosarcoma A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. DOID:2686 DOID:2689 Lymphangiosarcoma of Stewart and Treves MSH:C537491 MSH:D008204 NCI:C3205 NCI:C4490 SNOMEDCT_US_2015_03_01:403986008 SNOMEDCT_US_2015_03_01:62497000 SNOMEDCT_US_2015_03_01:63373002 Stewart-Treves syndrome (disorder) UMLS_CUI:C0024224 UMLS_CUI:C0346082 disease_ontology malignant Lymphangioendothelioma skin lymphangiosarcoma NCI2004_11_17:C3205 malignant Lymphangioendothelioma A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. ISBN:0-7817-2229-2 PMID:9796078 url:https://en.wikipedia.org/wiki/Lymphangiosarcoma Lymphangiosarcoma of Stewart and Treves NCI2004_11_17:C4490 SNOMEDCT_2005_07_31:62497000 Stewart-Treves syndrome (disorder) myoma DOID:2691 ICD10CM:D21 MSH:D009214 NCI:C4882 SNOMEDCT_US_2015_03_01:66357004 SNOMEDCT_US_2015_03_01:92237006 UMLS_CUI:C0027086 benign neoplasm of the Muscle disease_ontology NCI2004_11_17:C4882 benign neoplasm of the Muscle Leydig cell tumor DOID:2696 Leydig cell neoplasm MSH:D007984 NCI:C3188 SNOMEDCT_US_2015_03_01:189739005 SNOMEDCT_US_2015_03_01:45002009 UMLS_CUI:C0023601 disease_ontology Leydig cell neoplasm NCI2004_11_17:C3188 renal adenoma DOID:2697 NCI:C8383 SNOMEDCT_US_2015_03_01:41627005 UMLS_CUI:C0334684 disease_ontology renal cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:41627005 renal cell adenoma (morphologic abnormality) nephrogenic adenofibroma DOID:2698 Metanephric adenofibroma NCI:C39812 SNOMEDCT_US_2015_03_01:128760004 UMLS_CUI:C1266141 disease_ontology Metanephric adenofibroma SNOMEDCT_2005_07_31:128760004 Metanephric adenofibroma NCI2004_11_17:C39812 sinonasal papilloma DOID:2699 Schneiderian papilloma disease_ontology true NCI2004_11_17:C4117 Schneiderian papilloma liver sarcoma A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. DOID:270 NCI:C4437 SNOMEDCT_US_2015_03_01:254601002 UMLS_CUI:C0345906 disease_ontology hepatic sarcoma A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. url:http://www.cancersupportivecare.com/liver.html NCI2004_11_17:C4437 hepatic sarcoma mucinous adenofibroma DOID:2700 NCI:C8978 SNOMEDCT_US_2015_03_01:10705005 UMLS_CUI:C0334499 disease_ontology nodular tenosynovitis DOID:2665 DOID:2701 NCI:C3829 NCI:C6532 SNOMEDCT_US_2015_03_01:5178002 SNOMEDCT_US_2015_03_01:703702007 SNOMEDCT_US_2015_03_01:71508003 SNOMEDCT_US_2015_03_01:95413004 Synovioma, benign (morphologic abnormality) UMLS_CUI:C0221289 UMLS_CUI:C0588125 benign synovioma benign tumor of Synovium disease_ontology localized Giant cell tumor of Tenosynovium SNOMEDCT_2005_07_31:5178002 Synovioma, benign (morphologic abnormality) NCI2004_11_17:C3829 benign tumor of Synovium NCI2004_11_17:C6532 localized Giant cell tumor of Tenosynovium pigmented villonodular synovitis DOID:2702 Diffuse Giant cell tumor of Tenosynovium ICD10CM:M12.2 MSH:D013586 NCI:C3401 SNOMEDCT_US_2015_03_01:202903009 SNOMEDCT_US_2015_03_01:703703002 SNOMEDCT_US_2015_03_01:71508003 SNOMEDCT_US_2015_03_01:95412009 UMLS_CUI:C0039106 disease_ontology villous tenosynovitis SNOMEDCT_2005_07_31:71508003 villous tenosynovitis Diffuse Giant cell tumor of Tenosynovium NCI2004_11_17:C3401 synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. DOID:2703 MSH:D013585 NCI:C50766 SNOMEDCT_US_2015_03_01:14107000 SNOMEDCT_US_2015_03_01:156666009 SNOMEDCT_US_2015_03_01:268092005 SNOMEDCT_US_2015_03_01:416209007 UMLS_CUI:C0039103 disease_ontology A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. sn:IEDB malignant giant cell tumor of the tendon sheath DOID:2704 Giant cell tumour of tendon sheath, malignant NCI:C6535 SNOMEDCT_US_2015_03_01:128778009 UMLS_CUI:C1266168 disease_ontology malignant Giant cell neoplasm of the Tendon Sheath Giant cell tumour of tendon sheath, malignant SNOMEDCT_2005_07_31:128778009 NCI2004_11_17:C6535 malignant Giant cell neoplasm of the Tendon Sheath malignant giant cell tumor DOID:2705 NCI:C4090 SNOMEDCT_US_2015_03_01:83950009 UMLS_CUI:C0334229 disease_ontology malignant Giant cell neoplasm malignant tumor, giant cell type (morphologic abnormality) SNOMEDCT_2005_07_31:83950009 malignant tumor, giant cell type (morphologic abnormality) NCI2004_11_17:C4090 malignant Giant cell neoplasm synovium cancer DOID:2706 NCI:C6531 UMLS_CUI:C1334624 disease_ontology malignant tumor of Synovium NCI2004_11_17:C6531 malignant tumor of Synovium mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. DOID:2708 ICD10CM:J67.5 ICD9CM:495.5 MSH:D005203 Mushroom workers' lung (disorder) SNOMEDCT_US_2015_03_01:52333004 UMLS_CUI:C0155889 disease_ontology Mushroom workers' lung (disorder) SNOMEDCT_2005_07_31:52333004 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf hemangioma of liver Angioma of Liver DOID:271 NCI:C3869 SNOMEDCT_US_2015_03_01:235879002 SNOMEDCT_US_2015_03_01:93469006 UMLS_CUI:C0238246 disease_ontology hepatic angioma (disorder) Angioma of Liver NCI2004_11_17:C3869 SNOMEDCT_2005_07_31:235879002 hepatic angioma (disorder) sick building syndrome An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. DOID:2710 MSH:D018877 SNOMEDCT_US_2015_03_01:19076009 UMLS_CUI:C0037050 disease_ontology An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome phimosis DOID:2712 ICD10CM:N47.1 MSH:D010688 NCI:C26852 Phimosis (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:155921009 SNOMEDCT_US_2015_03_01:198005005 SNOMEDCT_US_2015_03_01:198006006 SNOMEDCT_US_2015_03_01:198007002 SNOMEDCT_US_2015_03_01:266571009 SNOMEDCT_US_2015_03_01:449826002 SNOMEDCT_US_2015_03_01:52743003 Tight foreskin Tight foreskin (finding) Tight frenulum UMLS_CUI:C0031538 disease_ontology SNOMEDCT_2005_07_31:198005005 Tight frenulum MTHICD9_2006:605 Tight foreskin Phimosis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:52743003 SNOMEDCT_2005_07_31:198006006 Tight foreskin (finding) Bloom syndrome An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome DOID:2717 MSH:D001816 NCI:C2903 OMIM mapping confirmed by DO. [SN]. OMIM:210900 ORDO:125 SNOMEDCT_US_2015_03_01:4434006 UMLS_CUI:C0005859 disease_ontology Bloom-Torre-Machacek syndrome CSP2005:1254-7913 Congenital Telangiectatic Erythema syndrome NCI2004_11_17:C2903 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. PMID:10823897 PMID:9482582 url:http://ghr.nlm.nih.gov/condition/bloom-syndrome url:https://en.wikipedia.org/wiki/Bloom_syndrome hemopneumothorax DOID:2718 Hemopneumothorax (disorder) ICD10CM:J94.2 MSH:D006468 SNOMEDCT_US_2015_03_01:16632002 UMLS_CUI:C0019077 disease_ontology Hemopneumothorax (disorder) SNOMEDCT_2005_07_31:16632002 hepatic vascular disease A vascular disease that is located_in the liver. DOID:272 NCI:C35442 SNOMEDCT_US_2015_03_01:235878005 UMLS_CUI:C0400923 disease_ontology vascular disorder of liver (disorder) A vascular disease that is located_in the liver. url:http://www.ncbi.nlm.nih.gov/pubmed/21055687 SNOMEDCT_2005_07_31:235878005 vascular disorder of liver (disorder) acrodermatitis A dermatitis that selectively affects the hands and feet. CSP:4008-0032 DOID:2722 MSH:D000169 NCI:C84532 SNOMEDCT_US_2015_03_01:8197001 UMLS_CUI:C0001197 disease_ontology A dermatitis that selectively affects the hands and feet. url:http://en.wikipedia.org/wiki/Acrodermatitis dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. DOID:2723 DOID:8614 DOID:8917 ICD10CM:L30.9 MSH:D003872 NCI:C2983 SNOMEDCT_US_2015_03_01:156358005 SNOMEDCT_US_2015_03_01:156388001 SNOMEDCT_US_2015_03_01:182782007 SNOMEDCT_US_2015_03_01:200884006 SNOMEDCT_US_2015_03_01:238538009 SNOMEDCT_US_2015_03_01:267847004 SNOMEDCT_US_2015_03_01:267856007 SNOMEDCT_US_2015_03_01:43116000 SNOMEDCT_US_2015_03_01:4979002 UMLS_CUI:C0011603 disease_ontology eczema skin inflammation A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. url:http://en.wikipedia.org/wiki/Dermatitis url:http://www.nlm.nih.gov/medlineplus/eczema.html port-wine stain Cavernous naevus DOID:2724 Naevus flammeus Port Wine type hemangioma disease_ontology true Naevus flammeus SNOMEDCT_2005_07_31:205560007 Cavernous naevus SNOMEDCT_2005_07_31:189192007 NCI2004_11_17:C3840 Port Wine type hemangioma capillary hemangioma Capillary hemangioma (disorder) Capillary hemangioma (morphologic abnormality) Congenital vascular hamartoma Congenital vascular naevus DOID:2725 ICD10CM:Q82.5 Infantile hemangioma Juvenile hemangioma MSH:D018324 NCI:C6645 SNOMEDCT_US_2015_03_01:205560007 SNOMEDCT_US_2015_03_01:254206003 SNOMEDCT_US_2015_03_01:402867006 SNOMEDCT_US_2015_03_01:56975005 SNOMEDCT_US_2015_03_01:83343001 Strawberry haemangioma Strawberry nevus Strawberry nevus of skin (disorder) UMLS_CUI:C0206733 cellular hemangioma of Infancy (Strawberry nevus) disease_ontology Juvenile hemangioma NCI2004_11_17:C7458 Infantile hemangioma NCI2004_11_17:C7459 SNOMEDCT_2005_07_31:56975005 Strawberry nevus of skin (disorder) NCI2004_11_17:C7394 cellular hemangioma of Infancy (Strawberry nevus) SNOMEDCT_2005_07_31:157014007 Strawberry haemangioma SNOMEDCT_2005_07_31:254781005 Strawberry haemangioma Capillary hemangioma (disorder) SNOMEDCT_2005_07_31:402867006 MTHICD9_2006:757.32 Strawberry nevus Congenital vascular hamartoma SNOMEDCT_2005_07_31:254206003 Congenital vascular naevus SNOMEDCT_2005_07_31:205560007 Capillary hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:83343001 acne nevus DOID:2726 Pilosebaceous Nevoid disorder disease_ontology nevus comedonicus (disorder) true SNOMEDCT_2005_07_31:35962006 nevus comedonicus (disorder) NCI2004_11_17:C3946 Pilosebaceous Nevoid disorder Pilosebaceous hamartoma DOID:2728 disease_ontology true dyskeratosis congenita A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. DOID:2729 MSH:D019871 NCI:C111802 OMIM:127550 OMIM:224230 OMIM:305000 OMIM:613988 OMIM:613989 OMIM:613990 OMIM:615190 ORDO:1775 SNOMEDCT_US_2015_03_01:74911008 UMLS_CUI:C0265965 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. disease_ontology A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita epidermolysis bullosa DOID:2730 Epidermolysis bullosa Epidermolysis bullosa (disorder) ICD10CM:Q81 ICD10CM:Q81.9 MSH:D004820 NCI:C67383 SNOMEDCT_US_2015_03_01:205580008 SNOMEDCT_US_2015_03_01:61003004 UMLS_CUI:C0014527 acantholysis bullosa disease_ontology Epidermolysis bullosa MTHICD9_2006:757.39 Epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:61003004 Epidermolysis bullosa SNOMEDCT_2005_07_31:205580008 CSP2005:0726-9169 acantholysis bullosa vesiculobullous skin disease DOID:2731 MSH:D012872 UMLS_CUI:C0037275 disease_ontology Rothmund-Thomson syndrome Congenital poikiloderma DOID:2732 ICD10CM:Q82.8 MSH:D011038 NCI:C3335 OMIM mapping confirmed by DO. [SN]. OMIM:268400 RTS Rothmund-Thomson syndrome (disorder) SNOMEDCT_US_2015_03_01:205565002 SNOMEDCT_US_2015_03_01:205572001 SNOMEDCT_US_2015_03_01:69093006 UMLS_CUI:C0032339 disease_ontology Congenital poikiloderma MTHICD9_2006:757.33 Rothmund-Thomson syndrome (disorder) SNOMEDCT_2005_07_31:69093006 NCI2004_11_17:C3335 RTS skin atrophy Atrophoderma Atrophoderma (disorder) Atrophy - skin DOID:2733 ICD10CM:L90 ICD10CM:L90.9 NCI:C35163 SNOMEDCT_US_2015_03_01:156391001 SNOMEDCT_US_2015_03_01:16343004 SNOMEDCT_US_2015_03_01:201090001 SNOMEDCT_US_2015_03_01:267857003 SNOMEDCT_US_2015_03_01:399979006 SNOMEDCT_US_2015_03_01:400190005 UMLS_CUI:C0151514 atrophic condition of skin (disorder) disease_ontology Atrophy - skin SNOMEDCT_2005_07_31:267857003 Atrophy - skin SNOMEDCT_2005_07_31:156391001 SNOMEDCT_2005_07_31:400190005 atrophic condition of skin (disorder) Atrophoderma MTHICD9_2006:701.9 Atrophoderma (disorder) SNOMEDCT_2005_07_31:399979006 Atrophoderma SNOMEDCT_2005_07_31:201090001 SNOMEDCT_2005_07_31:16343004 atrophic condition of skin (disorder) keratosis follicularis DARIER-WHITE DISEASE DOID:2734 Darier's disease ICD10CM:E50.8 Keratosis follicularis (disorder) MSH:D007644 NCI:C84665 OMIM mapping confirmed by DO. [SN]. OMIM:124200 SNOMEDCT_US_2015_03_01:157017000 SNOMEDCT_US_2015_03_01:205582000 SNOMEDCT_US_2015_03_01:240633005 SNOMEDCT_US_2015_03_01:268355000 SNOMEDCT_US_2015_03_01:48611009 UMLS_CUI:C0022595 disease_ontology Darier's disease SNOMEDCT_2005_07_31:268355000 CSP2005:0726-9627 Darier's disease Keratosis follicularis (disorder) SNOMEDCT_2005_07_31:48611009 Darier's disease SNOMEDCT_2005_07_31:240633005 Darier's disease SNOMEDCT_2005_07_31:205582000 Darier's disease SNOMEDCT_2005_07_31:157017000 Hajdu-Cheney syndrome DOID:2735 DOID:2736 MSH:D030981 MSH:D031845 NCI:C35545 NCI:C84745 OMIM mapping confirmed by DO. [SN]. OMIM:102500 SNOMEDCT_US_2015_03_01:27201004 SNOMEDCT_US_2015_03_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990 disease_ontology Witkop-Von Sallmann disease DOID:2737 Hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis (disorder) disease_ontology true Hereditary benign intraepithelial dyskeratosis MTH:NOCODE Hereditary benign intraepithelial dyskeratosis (disorder) SNOMEDCT_2005_07_31:400014002 Hereditary benign intraepithelial dyskeratosis (disorder) SNOMEDCT_2005_07_31:68897000 pseudoxanthoma elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. DOID:2738 Gronblad-Strandberg syndrome MSH:D011561 NCI:C85036 OMIM:177850 OMIM:264800 ORDO:758 SNOMEDCT_US_2015_03_01:157017000 SNOMEDCT_US_2015_03_01:205574000 SNOMEDCT_US_2015_03_01:239140003 SNOMEDCT_US_2015_03_01:252246005 SNOMEDCT_US_2015_03_01:268355000 SNOMEDCT_US_2015_03_01:7109007 UMLS_CUI:C0033847 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. url:http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum url:http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract Gilbert syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. Constitutional hyperbilirubinemia DOID:2739 Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome ICD10CM:E80.4 MSH:D005878 NCI:C84729 OMIM mapping confirmed by DO. [SN]. OMIM:143500 SNOMEDCT_US_2015_03_01:154770008 SNOMEDCT_US_2015_03_01:267509000 SNOMEDCT_US_2015_03_01:27503000 UMLS_CUI:C0017551 disease_ontology hereditary nonhemolytic jaundice A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome Constitutional hyperbilirubinemia MTHICD9_2006:277.4 CSP2005:1654-1020 hereditary nonhemolytic jaundice Gilbert's disease SNOMEDCT_2005_07_31:154770008 bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. DOID:2740 DOID:2741 MSH:D006932 MSH:D006933 NCI:C84761 SNOMEDCT_US_2015_03_01:143932000 SNOMEDCT_US_2015_03_01:14783006 SNOMEDCT_US_2015_03_01:154770008 SNOMEDCT_US_2015_03_01:166612004 SNOMEDCT_US_2015_03_01:20505009 SNOMEDCT_US_2015_03_01:235904007 SNOMEDCT_US_2015_03_01:267509000 UMLS_CUI:C0020433 UMLS_CUI:C0020435 disease_ontology hereditary hyperbilirubinemia hyperbilirubinaemia hyperbilirubinemia An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia SNOMEDCT_2005_07_31:154770008 hyperbilirubinaemia CSP2005:1654-1020 hereditary hyperbilirubinemia auditory system disease DOID:1490 DOID:2011 DOID:2742 Destruction - ear drum ICD10CM:H93.9 ICD10CM:H93.90 ICD9CM:388.9 MSH:D004427 NCI:C26757 SNOMEDCT_US_2015_03_01:155253008 SNOMEDCT_US_2015_03_01:155261003 SNOMEDCT_US_2015_03_01:194193002 SNOMEDCT_US_2015_03_01:194410006 SNOMEDCT_US_2015_03_01:25906001 SNOMEDCT_US_2015_03_01:267768008 UMLS_CUI:C0013447 Unspecified disorder of ear disease_ontology disorder of ear (disorder) ear and mastoid disease ear disease ear disorder ear disorder NOS ear disorder NOS (disorder) SNOMEDCT_2005_07_31:194193002 ear disease SNOMEDCT_2005_07_31:194410006 ear disorder NOS (disorder) SNOMEDCT_2005_07_31:25906001 disorder of ear (disorder) Destruction - ear drum SNOMEDCT_2005_07_31:155253008 ICD9CM_2006:388.9 Unspecified disorder of ear CSP2005:0977-5187 ear disorder SNOMEDCT_2005_07_31:155261003 ear disorder NOS Destruction - ear drum SNOMEDCT_2005_07_31:267768008 NCI2004_11_17:C26757 ear disorder pyeloureteritis cystica DOID:2743 ICD10CM:N28.85 ICD9CM:590.3 Pyeloureteritis cystica (disorder) SNOMEDCT_US_2015_03_01:155864003 SNOMEDCT_US_2015_03_01:197776002 SNOMEDCT_US_2015_03_01:266555009 SNOMEDCT_US_2015_03_01:37779008 UMLS_CUI:C0156254 disease_ontology Pyeloureteritis cystica (disorder) SNOMEDCT_2005_07_31:37779008 pyelitis DOID:2744 ICD10CM:N12 MSH:D011702 NCI:C34964 Pyelitis (disorder) Pyelitis NOS Pyelitis unspecified (disorder) SNOMEDCT_US_2015_03_01:197780007 SNOMEDCT_US_2015_03_01:27174002 UMLS_CUI:C0034183 disease_ontology Pyelitis (disorder) SNOMEDCT_2005_07_31:27174002 Pyelitis unspecified (disorder) SNOMEDCT_2005_07_31:197780007 MTHICD9_2006:590.80 Pyelitis NOS narcissistic personality disorder A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. DOID:2745 ICD10CM:F60.81 ICD9CM:301.81 MSH:D010554 NCI:C92635 SNOMEDCT_US_2015_03_01:192493008 SNOMEDCT_US_2015_03_01:80711002 UMLS_CUI:C0027402 disease_ontology A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. url:http://en.wikipedia.org/wiki/Narcissistic_personality_disorder glycogen storage disease V DOID:2746 Glycogen storage disease, type V (disorder) ICD10CM:E74.04 MSH:D006012 McArdle's disease NCI:C84738 OMIM mapping confirmed by DO. [SN]. OMIM:232600 SNOMEDCT_US_2015_03_01:55912009 UMLS_CUI:C0017924 disease_ontology glycogen storage disease type V myophosphorylase deficiency MTHICD9_2006:271.0 McArdle's disease Glycogen storage disease, type V (disorder) SNOMEDCT_2005_07_31:55912009 CSP2005:1849-4007 myophosphorylase deficiency glycogen storage disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. DOID:2747 ICD10CM:E74.0 ICD10CM:E74.00 ICD9CM:271.0 MSH:D006008 NCI:C61272 SNOMEDCT_US_2015_03_01:154738008 SNOMEDCT_US_2015_03_01:190744005 SNOMEDCT_US_2015_03_01:267498002 SNOMEDCT_US_2015_03_01:29633007 UMLS_CUI:C0017919 disease_ontology glycogenoses glycogenosis A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism url:http://en.wikipedia.org/wiki/Glycogen_storage_disease url:http://www.slideshare.net/anjupaed/glcogen-storage-disorders CSP2005:4000-0193 glycogenosis glycogen storage disease III DOID:2748 Glycogen storage disease, type III (disorder) ICD10CM:E74.03 MSH:D006010 NCI:C84736 OMIM mapping confirmed by DO. [SN]. OMIM:232400 SNOMEDCT_US_2015_03_01:124474000 SNOMEDCT_US_2015_03_01:66937008 UMLS_CUI:C0017922 amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin disease_ontology SNOMEDCT_2005_07_31:124472001 deficiency of dextrin CSP2005:1849-3893 amylo 1,6 glucosidase deficiency Glycogen storage disease, type III (disorder) SNOMEDCT_2005_07_31:66937008 SNOMEDCT_2005_07_31:124474000 deficiency of debranching enzyme glycogen storage disease I A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. DOID:2749 Glycogen storage disease, type I (disorder) ICD10CM:E74.01 MSH:D005953 NCI:C84733 OMIM mapping confirmed by DO. [SN]. OMIM:232200 OMIM:232220 OMIM:232240 SNOMEDCT_US_2015_03_01:124437004 SNOMEDCT_US_2015_03_01:154738008 SNOMEDCT_US_2015_03_01:267498002 SNOMEDCT_US_2015_03_01:7265005 UMLS_CUI:C0017920 deficiency of glucose-6-phosphatase disease_ontology glycogen storage disease type I glycogenosis type I von Gierke disease von Gierke's disease SNOMEDCT_2005_07_31:124437004 deficiency of glucose-6-phosphatase MTHICD9_2006:271.0 von Gierke's disease CSP2005:1849-3779 glycogenosis type I SNOMEDCT_2005_07_31:267498002 von Gierke disease Glycogen storage disease, type I (disorder) SNOMEDCT_2005_07_31:7265005 A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:http://en.wikipedia.org/wiki/Von_Gierke%27s_disease url:http://www.ncbi.nlm.nih.gov/books/NBK1312/ gastric hemangioma DOID:275 NCI:C5481 UMLS_CUI:C1333770 disease_ontology hemangioma of stomach NCI2004_11_17:C5481 hemangioma of stomach glycogen storage disease IV Amylopectinosis Branching-transferase deficiency glycogenosis (disorder) DOID:2750 Glycogen storage disease, type IV (disorder) ICD10CM:E74.09 MSH:D006011 NCI:C84737 OMIM mapping confirmed by DO. [SN]. OMIM:232500 SNOMEDCT_US_2015_03_01:11179002 SNOMEDCT_US_2015_03_01:124267007 SNOMEDCT_US_2015_03_01:190742009 UMLS_CUI:C0017923 brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme disease_ontology Amylopectinosis MTHICD9_2006:271.0 Glycogen storage disease, type IV (disorder) SNOMEDCT_2005_07_31:11179002 Branching-transferase deficiency glycogenosis (disorder) SNOMEDCT_2005_07_31:190742009 SNOMEDCT_2005_07_31:124267007 deficiency of 1,4-alpha-glucan branching enzyme CSP2005:1849-3950 brancher deficiency glycogenosis glycogen storage disease VIII DOID:2751 Glycogen storage disease type VIII (disorder) MSH:D006015 SNOMEDCT_US_2015_03_01:297255007 SNOMEDCT_US_2015_03_01:41527003 UMLS_CUI:C0017927 disease_ontology glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency (disorder) Glycogen storage disease type VIII (disorder) SNOMEDCT_2005_07_31:41527003 SNOMEDCT_2005_07_31:297255007 hepatic glycogen phosphorylase kinase deficiency (disorder) CSP2005:1849-4178 glycogenosis type VIII glycogen storage disease II A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. DOID:2752 Generalized glycogenosis (disorder) Glycogen storage disease, type II (disorder) Glycogenosis, type 2 ICD10CM:E74.02 Lysosomal alpha-1,4-glucosidase deficiency (disorder) MSH:D006009 NCI:C84734 OMIM mapping confirmed by DO. [SN]. OMIM:232300 Pompe's disease SNOMEDCT_US_2015_03_01:124454007 SNOMEDCT_US_2015_03_01:124462004 SNOMEDCT_US_2015_03_01:190741002 SNOMEDCT_US_2015_03_01:237967002 SNOMEDCT_US_2015_03_01:237968007 SNOMEDCT_US_2015_03_01:267424007 SNOMEDCT_US_2015_03_01:76219003 UMLS_CUI:C0017921 acid maltase deficiency deficiency of glucoamylase deficiency of maltase disease_ontology glycogen storage disease type II Lysosomal alpha-1,4-glucosidase deficiency (disorder) SNOMEDCT_2005_07_31:237967002 CSP2005:1849-3836 acid maltase deficiency Glycogen storage disease, type II (disorder) SNOMEDCT_2005_07_31:274864009 Pompe's disease SNOMEDCT_2005_07_31:237968007 SNOMEDCT_2005_07_31:124462004 deficiency of maltase Glycogenosis, type 2 SNOMEDCT_2005_07_31:190741002 A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II Generalized glycogenosis (disorder) SNOMEDCT_2005_07_31:267424007 SNOMEDCT_2005_07_31:124454007 deficiency of glucoamylase nervous system lysosomal storage disease DOID:2753 disease_ontology true glycogen storage disease VI A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. DOID:2754 Hers' disease ICD10CM:E74.09 MSH:D006013 OMIM:232700 ORDO:369 SNOMEDCT_US_2015_03_01:237971004 SNOMEDCT_US_2015_03_01:29291001 UMLS_CUI:C0017925 Xref MGI. disease_ontology glycogen storage disease type VI hepatic glycogen phosphorylase deficiency (disorder) hepatophosphorylase deficiency glycogenosis A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI url:http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract SNOMEDCT_2005_07_31:237971004 hepatic glycogen phosphorylase deficiency (disorder) CSP2005:1849-4064 hepatophosphorylase deficiency glycogenosis Mycobacterium avium complex disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. DOID:2755 Infection due to Mycobacterium intracellulare Infection due to Mycobacterium intracellulare (disorder) MAC disease MSH:D015270 Mycobacterium Avium Infection Mycobacterium avium Complex NCI:C36197 SNOMEDCT_US_2015_03_01:14009004 SNOMEDCT_US_2015_03_01:373436002 UMLS_CUI:C0026916 disease_ontology Infection due to Mycobacterium intracellulare SNOMEDCT_2005_07_31:14009004 Mycobacterium Avium Infection NCI2004_11_17:C36197 A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. url:http://hivinsite.ucsf.edu/InSite?page=md-agl-mac url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/mycobacteriumavium_t.htm Infection due to Mycobacterium intracellulare (disorder) SNOMEDCT_2005_07_31:373436002 CSP2005:0322-0521 Mycobacterium avium Complex paratuberculosis DOID:2756 Infection due to Mycobacterium paratuberculosis (disorder) Johne's disease (disorder) disease_ontology true Johne's disease (disorder) SNOMEDCT_2005_07_31:12223006 Infection due to Mycobacterium paratuberculosis (disorder) SNOMEDCT_2005_07_31:373578005 Mycobacterium infectious disease DOID:2757 Infection due to mycobacteria Mycobacterial Infection Mycobacterial disease Mycobacterial disease NOS (disorder) Mycobacterium infection, unspecified (disorder) Unspecified disease due to mycobacteria disease_ontology true Mycobacterial disease SNOMEDCT_2005_07_31:266184007 ICD9CM_2006:031.9 Unspecified disease due to mycobacteria Infection due to mycobacteria SNOMEDCT_2005_07_31:88415009 Mycobacterial Infection NCI2004_11_17:C26831 Mycobacterial disease NOS (disorder) SNOMEDCT_2005_07_31:186345003 Mycobacterial disease SNOMEDCT_2005_07_31:154298007 Mycobacterium infection, unspecified (disorder) SNOMEDCT_2005_07_31:187318007 bone carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2762 NCI:C36082 SNOMEDCT_US_2015_03_01:269568000 UMLS_CUI:C0700110 disease_ontology A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma ethmoid sinus squamous cell carcinoma DOID:2763 Epidermoid carcinoma of the ethmoidal sinus NCI:C6065 UMLS_CUI:C1333477 disease_ontology Epidermoid carcinoma of the ethmoidal sinus NCI2004_11_17:C6065 ethmoid sinus adenoid cystic carcinoma DOID:2764 NCI:C6238 UMLS_CUI:C1333473 adenoid cystic carcinoma of ethmoid sinus adenoid cystic carcinoma of the ethmoid sinus disease_ontology NCI2004_11_17:C6238 adenoid cystic carcinoma of the ethmoid sinus ethmoid sinus adenocarcinoma An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. DOID:2766 NCI:C6237 UMLS_CUI:C1333472 adenocarcinoma of ethmoid sinus adenocarcinoma of the ethmoid sinus disease_ontology An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C6237 adenocarcinoma of the ethmoid sinus transient tic disorder A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. DOID:2768 ICD10CM:F95.0 ICD9CM:307.21 MSH:D013981 SNOMEDCT_US_2015_03_01:192622000 SNOMEDCT_US_2015_03_01:56573006 UMLS_CUI:C0040702 disease_ontology A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. url:http://en.wikipedia.org/wiki/Tic_disorder tic disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. DOID:2769 ICD10CM:F95 ICD10CM:F95.9 ICD9CM:307.2 ICD9CM:307.20 MSH:D013981 SNOMEDCT_US_2015_03_01:112086008 SNOMEDCT_US_2015_03_01:155005001 SNOMEDCT_US_2015_03_01:191988002 SNOMEDCT_US_2015_03_01:191989005 SNOMEDCT_US_2015_03_01:191991002 SNOMEDCT_US_2015_03_01:192621007 SNOMEDCT_US_2015_03_01:192626002 SNOMEDCT_US_2015_03_01:35042001 SNOMEDCT_US_2015_03_01:386783003 SNOMEDCT_US_2015_03_01:393585001 SNOMEDCT_US_2015_03_01:568005 UMLS_CUI:C0040188 disease_ontology A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. url:http://www.minddisorders.com/Py-Z/Tic-disorders.html url:http://www.tsa-usa.org/Medical/definitions.html chorioangioma Chorioangioma (disorder) DOID:277 MSH:D006391 NCI:C4868 Placental hemangioma SNOMEDCT_US_2015_03_01:2099007 SNOMEDCT_US_2015_03_01:237268002 SNOMEDCT_US_2015_03_01:699948001 UMLS_CUI:C0677608 disease_ontology Chorioangioma (disorder) SNOMEDCT_2005_07_31:237268002 NCI2004_11_17:C4868 Placental hemangioma diaper rash DOID:2770 Diaper or napkin erythema Diaper or napkin rash Diaper rash (disorder) ICD10CM:L22 ICD9CM:691.0 Irritant contact dermatitis due to contact with urine and/or faeces Jacquet's dermatitis MSH:D003963 NCI:C111886 SNOMEDCT_US_2015_03_01:238582000 SNOMEDCT_US_2015_03_01:91487003 UMLS_CUI:C0011974 disease_ontology true Irritant contact dermatitis due to contact with urine and/or faeces SNOMEDCT_2005_07_31:402275006 Diaper rash (disorder) SNOMEDCT_2005_07_31:91487003 Diaper or napkin rash ICD9CM_2006:691.0 Jacquet's dermatitis SNOMEDCT_2005_07_31:238582000 Diaper or napkin erythema MTHICD9_2006:691.0 atopic dermatitis and related conditions DOID:2771 disease_ontology true irritant dermatitis DOID:2772 ICD10CM:L24 ICD10CM:L24.9 Irritant Contact Dermatitis Irritant contact dermatitis MSH:D017453 NCI:C27151 SNOMEDCT_US_2015_03_01:110979008 SNOMEDCT_US_2015_03_01:200850007 UMLS_CUI:C0162823 disease_ontology primary irritant dermatitis (disorder) SNOMEDCT_2005_07_31:110979008 primary irritant dermatitis (disorder) Irritant Contact Dermatitis NCI2004_11_17:C27151 Irritant contact dermatitis SNOMEDCT_2005_07_31:200850007 contact dermatitis Contact dermatitis (disorder) Contact dermatitis NOS Contact dermatitis NOS (disorder) Contact dermatitis/eczema Contact eczema DOID:2773 Dermatitis, venenata NOS ICD10CM:L25 ICD10CM:L25.9 MSH:D003877 NCI:C26743 SNOMEDCT_US_2015_03_01:156338009 SNOMEDCT_US_2015_03_01:156348006 SNOMEDCT_US_2015_03_01:200780008 SNOMEDCT_US_2015_03_01:200883000 SNOMEDCT_US_2015_03_01:200889001 SNOMEDCT_US_2015_03_01:267842005 SNOMEDCT_US_2015_03_01:267846008 SNOMEDCT_US_2015_03_01:40275004 UMLS_CUI:C0011616 dermatitis venenata disease_ontology Dermatitis, venenata NOS MTHICD9_2006:692.9 Contact dermatitis/eczema SNOMEDCT_2005_07_31:267842005 Contact dermatitis NOS SNOMEDCT_2005_07_31:267846008 Contact eczema SNOMEDCT_2005_07_31:200780008 Contact dermatitis/eczema SNOMEDCT_2005_07_31:156338009 Contact dermatitis NOS SNOMEDCT_2005_07_31:200889001 Contact dermatitis NOS SNOMEDCT_2005_07_31:156348006 Contact dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200883000 Contact dermatitis (disorder) SNOMEDCT_2005_07_31:40275004 CSP2005:2716-6989 dermatitis venenata long bone adamantinoma An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. DOID:2775 MSH:C562741 NCI:C4305 OMIM mapping confirmed by DO. [SN]. OMIM:102660 SNOMEDCT_US_2015_03_01:189895006 SNOMEDCT_US_2015_03_01:307609003 SNOMEDCT_US_2015_03_01:56763007 UMLS_CUI:C0334556 adamantinoma of long bone adamantinoma of long bone (disorder) adamantinoma of long bones adamantinoma of long bones (morphologic abnormality) disease_ontology An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970057-2 SNOMEDCT_2005_07_31:56763007 adamantinoma of long bones (morphologic abnormality) SNOMEDCT_2005_07_31:307609003 adamantinoma of long bone (disorder) SNOMEDCT_2005_07_31:189895006 adamantinoma of long bones adamantinoma A bone cancer that is located_in almost exclusively in the long bones. DOID:2776 MSH:D050398 NCI:C7644 UMLS_CUI:C1367554 disease_ontology A bone cancer that is located_in almost exclusively in the long bones. url:http://emedicine.medscape.com/article/385977-overview malignant neoplasm of short bones of upper limb DOID:2777 disease_ontology malignant neoplasm of short bone of upper limb true SNOMEDCT_2005_07_31:94004004 malignant neoplasm of short bone of upper limb tumors of body of uterus, with delivery DOID:2778 disease_ontology true tumors of body of uterus complicating pregnancy, childbirth, or the puerperium DOID:2779 disease_ontology true rectosigmoid junction neoplasm DOID:2780 NCI:C4877 Rectosigmoid tumor SNOMEDCT_US_2015_03_01:126848003 UMLS_CUI:C0345873 disease_ontology neoplasm of rectosigmoid junction (disorder) rectosigmoid neoplasm NCI2004_11_17:C4877 Rectosigmoid tumor SNOMEDCT_2005_07_31:126848003 neoplasm of rectosigmoid junction (disorder) CSP2005:2010-1253 rectosigmoid neoplasm rectosigmoid cancer DOID:2781 NCI:C7421 UMLS_CUI:C1327709 disease_ontology rectosigmoid junction cancer DOID:2782 ICD10CM:C19 ICD9CM:154.0 NCI:C7420 SNOMEDCT_US_2015_03_01:363414004 SNOMEDCT_US_2015_03_01:93980002 UMLS_CUI:C0153443 disease_ontology malignant Rectosigmoid tumor malignant neoplasm of rectosigmoid malignant neoplasm of rectosigmoid junction malignant tumor of rectosigmoid junction (disorder) SNOMEDCT_2005_07_31:363414004 malignant tumor of rectosigmoid junction (disorder) NCI2004_11_17:C7420 malignant Rectosigmoid tumor MTHICD9_2006:154.0 malignant neoplasm of rectosigmoid ICD9CM_2006:154.0 malignant neoplasm of rectosigmoid junction lung sarcoma A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. DOID:2784 NCI:C4860 UMLS_CUI:C0598790 disease_ontology pulmonary sarcoma A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. url:http://www.asco.org/ASCOv2/Meetings/Abstracts?&vmview=abst_detail_view&confID=26&abstractID=4315 NCI2004_11_17:C4860 pulmonary sarcoma Dandy-Walker syndrome (Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome) Atresia of foramina of Magendie and Luschka DOID:2785 Dandy-Walker syndrome (disorder) ICD10CM:Q03.1 MSH:D003616 NCI:C75012 OMIM mapping confirmed by DO. [SN]. OMIM:220200 SNOMEDCT_US_2015_03_01:14447001 SNOMEDCT_US_2015_03_01:204063009 UMLS_CUI:C0010964 disease_ontology (Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome) SNOMEDCT_2005_07_31:204063009 Atresia of foramina of Magendie and Luschka MTHICD9_2006:742.3 Dandy-Walker syndrome (disorder) SNOMEDCT_2005_07_31:14447001 cerebellar disease Cerebellar deficiency syndrome (disorder) DOID:2786 MSH:D002526 SNOMEDCT_US_2015_03_01:155010002 SNOMEDCT_US_2015_03_01:192867005 SNOMEDCT_US_2015_03_01:223176004 SNOMEDCT_US_2015_03_01:224186005 SNOMEDCT_US_2015_03_01:267691001 SNOMEDCT_US_2015_03_01:307361005 SNOMEDCT_US_2015_03_01:49784007 UMLS_CUI:C0007760 cerebellar disorder disease_ontology CSP2005:0485-3992 cerebellar disorder Cerebellar deficiency syndrome (disorder) SNOMEDCT_2005_07_31:224186005 Ciliophora infectious disease An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. DOID:2788 disease_ontology true An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. url:http://en.wikipedia.org/wiki/Ciliate parasitic protozoa infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. DOID:0060003 DOID:10553 DOID:2789 DOID:3734 DOID:3804 DOID:947 ICD10CM:B50-B64 ICD10CM:B64 MSH:D011528 NCI:C34953 SNOMEDCT_US_2015_03_01:187247003 SNOMEDCT_US_2015_03_01:187502000 SNOMEDCT_US_2015_03_01:187517001 SNOMEDCT_US_2015_03_01:240627001 SNOMEDCT_US_2015_03_01:367372008 SNOMEDCT_US_2015_03_01:89933001 SNOMEDCT_US_2015_03_01:95896000 UMLS_CUI:C0033740 disease_ontology mastigophora infectious disease sarcomastigophora infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. url:http://en.wikipedia.org/wiki/Protozoan url:http://en.wikipedia.org/wiki/Protozoan_infection necatoriasis A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. DOID:13048 DOID:2790 ICD10CM:B76.1 MSH:D009332 NCI:C34838 SNOMEDCT_US_2015_03_01:36667009 UMLS_CUI:C0027528 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. url:http://en.wikipedia.org/wiki/Necator_americanus hookworm infectious disease A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. DOID:10954 DOID:2791 ancylostomiasis and necatoriasis disease_ontology true A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. url:http://en.wikipedia.org/wiki/Hookworm url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm idiopathic interstitial pneumonia A pneumonia located_in the lung parenchyma of unknown cause. DOID:2797 Diffuse idiopathic pulmonary fibrosis ICD10CM:J84.11 ICD10CM:J84.112 ICD10CM:J84.114 IPF Idiopathic Interstitial Pneumonia Idiopathic fibrosing alveolitis MSH:D011658 SNOMEDCT_US_2015_03_01:129459004 SNOMEDCT_US_2015_03_01:155624004 SNOMEDCT_US_2015_03_01:196123009 SNOMEDCT_US_2015_03_01:196125002 SNOMEDCT_US_2015_03_01:196126001 SNOMEDCT_US_2015_03_01:233721005 SNOMEDCT_US_2015_03_01:236302005 SNOMEDCT_US_2015_03_01:266410004 SNOMEDCT_US_2015_03_01:45157009 SNOMEDCT_US_2015_03_01:700250006 UMLS_CUI:C0085786 disease_ontology A pneumonia located_in the lung parenchyma of unknown cause. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 ICD9CM_2006:516.3 Idiopathic fibrosing alveolitis Idiopathic Interstitial Pneumonia NCI2004_11_17:C35714 CSP2005:4008-0052 IPF Diffuse idiopathic pulmonary fibrosis MTHICD9_2006:516.3 bronchiolitis obliterans A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. Bronchiolitis exudativa Bronchiolitis fibrosa obliterans (disorder) DOID:2799 MSH:D001989 NCI:C62580 Obliterative bronchiolitis SNOMEDCT_US_2015_03_01:40100001 UMLS_CUI:C0006272 disease_ontology A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans Obliterative bronchiolitis SNOMEDCT_2005_07_31:40100001 Bronchiolitis exudativa SNOMEDCT_2005_07_31:52409006 Bronchiolitis fibrosa obliterans (disorder) SNOMEDCT_2005_07_31:31886003 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. DOID:28 ICD10CM:E34.9 ICD9CM:259.9 MSH:D004700 NCI:C3009 SNOMEDCT_US_2015_03_01:118639003 SNOMEDCT_US_2015_03_01:127345001 SNOMEDCT_US_2015_03_01:154648001 SNOMEDCT_US_2015_03_01:154690007 SNOMEDCT_US_2015_03_01:154718007 SNOMEDCT_US_2015_03_01:190231001 SNOMEDCT_US_2015_03_01:190594008 SNOMEDCT_US_2015_03_01:267462005 SNOMEDCT_US_2015_03_01:267475005 SNOMEDCT_US_2015_03_01:267489000 SNOMEDCT_US_2015_03_01:362969004 SNOMEDCT_US_2015_03_01:67432001 UMLS_CUI:C0014130 disease_ontology A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system ear tuberculosis DOID:280 disease_ontology true tuberculosis of ear acute interstitial pneumonia A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. AIP DOID:2800 Hamman-Rich disease Hamman-Rich syndrome ICD10CM:J84.114 ICD9CM:516.33 Idiopathic pulmonary fibrosis, acute fatal form NCI:C35806 SNOMEDCT_US_2015_03_01:129459004 SNOMEDCT_US_2015_03_01:236302005 SNOMEDCT_US_2015_03_01:35037009 SNOMEDCT_US_2015_03_01:45157009 UMLS_CUI:C1279945 accelerated interstitial pneumonia acute interstitial pneumonitis, NOS disease_ontology Idiopathic pulmonary fibrosis, acute fatal form SNOMEDCT_2005_07_31:236302005 SNOMEDCT_2005_07_31:35037009 acute interstitial pneumonitis, NOS AIP NCI2004_11_17:C35806 A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 Idiopathic pulmonary fibrosis, acute fatal form SNOMEDCT_2005_07_31:129459004 nonspecific interstitial pneumonia An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. DOID:2801 NCI:C35717 NSIP Nonspecific interstitial pneumonia (disorder) SNOMEDCT_US_2015_03_01:129452008 UMLS_CUI:C1290344 disease_ontology Nonspecific interstitial pneumonia (disorder) SNOMEDCT_2005_07_31:129452008 An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh primary Bartonellaceae infectious disease DOID:2809 disease_ontology true middle lobe syndrome A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. DOID:2810 MSH:D008878 SNOMEDCT_US_2015_03_01:28295001 UMLS_CUI:C0026069 disease_ontology A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. url:http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf malignant neoplasm of acoustic nerve DOID:2814 ICD10CM:C72.4 NCI:C4539 SNOMEDCT_US_2015_03_01:188310002 SNOMEDCT_US_2015_03_01:254980001 SNOMEDCT_US_2015_03_01:93660000 UMLS_CUI:C0346331 disease_ontology malignant tumor of acoustic vestibular nerve (disorder) malignant tumor of the Vestibulocochlear nerve malignant tumour of acoustic vestibular nerve SNOMEDCT_2005_07_31:188310002 malignant tumour of acoustic vestibular nerve NCI2004_11_17:C4539 malignant tumor of the Vestibulocochlear nerve SNOMEDCT_2005_07_31:254980001 malignant tumor of acoustic vestibular nerve (disorder) cranial nerve malignant neoplasm DOID:2815 ICD10CM:C72.50 ICD9CM:192.0 MSH:D003390 NCI:C3571 SNOMEDCT_US_2015_03_01:188307009 SNOMEDCT_US_2015_03_01:188311003 SNOMEDCT_US_2015_03_01:93767009 UMLS_CUI:C0153644 disease_ontology malignant neoplasm of cranial nerve malignant neoplasm of cranial nerves malignant neoplasm of cranial nerves NOS (disorder) malignant tumor of cranial nerve (disorder) malignant tumor of the Cranial nerve SNOMEDCT_2005_07_31:93767009 malignant neoplasm of cranial nerve SNOMEDCT_2005_07_31:188311003 malignant neoplasm of cranial nerves NOS (disorder) ICD9CM_2006:192.0 malignant neoplasm of cranial nerves SNOMEDCT_2005_07_31:188307009 malignant tumor of cranial nerve (disorder) NCI2004_11_17:C3571 malignant tumor of the Cranial nerve malignant oculomotor nerve tumor DOID:2816 IIIrd Cranial nerve neoplasm, malignant NCI:C6995 SNOMEDCT_US_2015_03_01:93929003 UMLS_CUI:C0686417 disease_ontology primary malignant neoplasm of oculomotor nerve (disorder) IIIrd Cranial nerve neoplasm, malignant NCI2004_11_17:C6995 SNOMEDCT_2005_07_31:93929003 primary malignant neoplasm of oculomotor nerve (disorder) cranial nerve III tumor DOID:2817 NCI:C6994 Oculomotor nerve tumor SNOMEDCT_US_2015_03_01:126969002 UMLS_CUI:C1263895 disease_ontology neoplasm of oculomotor nerve (disorder) NCI2004_11_17:C6994 Oculomotor nerve tumor SNOMEDCT_2005_07_31:126969002 neoplasm of oculomotor nerve (disorder) nose disease DOID:2825 MSH:D009668 SNOMEDCT_US_2015_03_01:89488007 UMLS_CUI:C0028432 disease_ontology disorder of the nose (disorder) nasal disorder SNOMEDCT_2005_07_31:89488007 disorder of the nose (disorder) CSP2005:1997-0936 nasal disorder acalculous cholecystitis DOID:2827 DOID:2828 MSH:D042101 NCI:C35578 SNOMEDCT_US_2015_03_01:19968009 UMLS_CUI:C0267841 acute acalculous cholecystitis acute cholecystitis without calculus (disorder) cholecystitis without calculus (disorder) disease_ontology SNOMEDCT_2005_07_31:19968009 cholecystitis without calculus (disorder) SNOMEDCT_2005_07_31:34346002 acute cholecystitis without calculus (disorder) leukemic reticuloendotheliosis of intra-abdominal lymph nodes DOID:283 Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder) Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) disease_ontology true Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93144003 ICD9CM_2006:202.43 Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188647005 geotrichosis An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. DOID:2832 Geotrichosis (disorder) ICD10CM:B48.3 MSH:D005847 SNOMEDCT_US_2015_03_01:13969006 SNOMEDCT_US_2015_03_01:187105008 UMLS_CUI:C0017455 disease_ontology Geotrichosis (disorder) SNOMEDCT_2005_07_31:13969006 An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. url:http://medind.nic.in/iav/t03/i2/iavt03i2p72.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Hyphomycetes_%28hyaline%29/Geotrichum/ dehydration polycythemia DOID:2833 NCI:C27310 UMLS_CUI:C0856815 disease_ontology acquired polycythemia DOID:2834 ICD10CM:D75.1 ICD9CM:289.0 NCI:C27178 Polycythemia, secondary SNOMEDCT_US_2015_03_01:154835002 SNOMEDCT_US_2015_03_01:191374009 SNOMEDCT_US_2015_03_01:44865000 UMLS_CUI:C1318533 disease_ontology secondary Polycythemia secondary polycythemia secondary polycythemia (disorder) secondary polycythemia NOS (disorder) ICD9CM_2006:289.0 Polycythemia, secondary SNOMEDCT_2005_07_31:154835002 secondary polycythemia NCI2004_11_17:C27178 secondary Polycythemia SNOMEDCT_2005_07_31:44865000 secondary polycythemia (disorder) SNOMEDCT_2005_07_31:191374009 secondary polycythemia NOS (disorder) polycythemia due to hypoxia DOID:2835 NCI:C27312 UMLS_CUI:C0856818 disease_ontology stress polycythemia DOID:2838 Gaisbock's syndrome Gaisbock's syndrome (disorder) ICD10CM:D75.1 NCI:C27174 Polycythemia, emotional SNOMEDCT_US_2015_03_01:191371001 SNOMEDCT_US_2015_03_01:36874002 Stress Polycythemia Stress polycythemia (disorder) Stress polycythemia [dup] (disorder) UMLS_CUI:C0541719 disease_ontology SNOMEDCT_2005_07_31:191371001 Stress polycythemia [dup] (disorder) NCI2004_11_17:C27174 Stress Polycythemia Gaisbock's syndrome (disorder) SNOMEDCT_2005_07_31:48250002 MTHICD9_2006:289.0 Polycythemia, emotional Gaisbock's syndrome SNOMEDCT_2005_07_31:35326002 SNOMEDCT_2005_07_31:36874002 Stress polycythemia (disorder) erythropoietin polycythemia DOID:2839 ICD10CM:D75.1 NCI:C35434 Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous SNOMEDCT_US_2015_03_01:367328005 SNOMEDCT_US_2015_03_01:43918003 UMLS_CUI:C0391869 disease_ontology secondary polycythemia with excess erythropoietin (disorder) MTH:NOCODE Polycythemia due to excess erythopoetin production Nephrogenous polycythemia SNOMEDCT_2005_07_31:43918003 SNOMEDCT_2005_07_31:367328005 secondary polycythemia with excess erythropoietin (disorder) MTHICD9_2006:289.0 Polycythemia, nephrogenous NCI2004_11_17:C35434 Polycythaemia due to Excess Erythropoetin Production malignant neoplasm of abdomen DOID:284 disease_ontology malignant tumor of abdomen (disorder) true SNOMEDCT_2005_07_31:188366002 malignant tumor of abdomen (disorder) asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:2841 DOID:5783 EFO:0000270 Exercise induced asthma ICD10CM:J45 ICD10CM:J45.90 ICD10CM:J45.909 ICD9CM:493 ICD9CM:493.9 KEGG:05310 MSH:D001249 NCI:C28397 OMIM:600807 SNOMEDCT_US_2015_03_01:155574008 SNOMEDCT_US_2015_03_01:155579003 SNOMEDCT_US_2015_03_01:187687003 SNOMEDCT_US_2015_03_01:195967001 SNOMEDCT_US_2015_03_01:195979001 SNOMEDCT_US_2015_03_01:195983001 SNOMEDCT_US_2015_03_01:21341004 SNOMEDCT_US_2015_03_01:266365004 SNOMEDCT_US_2015_03_01:266398009 SNOMEDCT_US_2015_03_01:278517007 UMLS_CUI:C0004096 Xref MGI. bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus disease_ontology exercise-induced asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. url:http://www.aaaai.org/patients/topicofthemonth/0107/ url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html Exercise induced asthma SNOMEDCT_2005_07_31:195983001 Jervell-Lange Nielsen syndrome DOID:2842 Jervell and Lange-Nielson syndrome (disorder) Jervell and Lange-Nielson syndrome (finding) MSH:D029593 NCI:C84793 OMIM mapping confirmed by DO. [SN]. OMIM:220400 OMIM:612347 SNOMEDCT_US_2015_03_01:373905003 SNOMEDCT_US_2015_03_01:49518001 UMLS_CUI:C0022387 disease_ontology Jervell and Lange-Nielson syndrome (disorder) SNOMEDCT_2005_07_31:373905003 Jervell and Lange-Nielson syndrome (finding) SNOMEDCT_2005_07_31:49518001 long QT syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). DOID:2843 DOID:4069 ICD10CM:I45.81 ICD9CM:426.82 LQT MSH:D008133 MSH:D029597 NCI:C34786 NCI:C85049 OMIM mapping confirmed by DO. [SN]. OMIM:170390 OMIM:192500 OMIM:601005 OMIM:603830 OMIM:611818 OMIM:611819 OMIM:611820 OMIM:612955 OMIM:613485 OMIM:613688 OMIM:613693 OMIM:613695 Romano-Ward syndrome Romano-Ward syndrome (disorder) SNOMEDCT_US_2015_03_01:20852007 SNOMEDCT_US_2015_03_01:395649008 SNOMEDCT_US_2015_03_01:9651007 UMLS_CUI:C0023976 UMLS_CUI:C0035828 disease_ontology long Q-T syndrome Romano-Ward syndrome (disorder) SNOMEDCT_2005_07_31:20852007 SNOMEDCT_2005_07_31:395649008 long Q-T syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). url:http://en.wikipedia.org/wiki/Long_QT_syndrome CSP2005:4009-0053 LQT bruxism A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. Bruxism - teeth grinding DOID:2846 DOID:8891 Grinding teeth ICD10CM:F45.8 ICD10CM:G47.63 ICD9CM:327.53 MSH:D002012 MSH:D020186 NCI:C73511 SNOMEDCT_US_2015_03_01:154925009 SNOMEDCT_US_2015_03_01:191983006 SNOMEDCT_US_2015_03_01:192436003 SNOMEDCT_US_2015_03_01:268774006 SNOMEDCT_US_2015_03_01:274950005 SNOMEDCT_US_2015_03_01:367105000 SNOMEDCT_US_2015_03_01:90207007 Teeth grinding UMLS_CUI:C0006325 UMLS_CUI:C0393774 disease_ontology sleep related bruxism Bruxism - teeth grinding SNOMEDCT_2005_07_31:268774006 A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. url:http://en.wikipedia.org/wiki/Bruxism MTHICD9_2006:306.8 Teeth grinding Grinding teeth SNOMEDCT_2005_07_31:367105000 melancholia DOID:2848 MSH:D003866 NCI:C34812 SNOMEDCT_US_2015_03_01:35489007 UMLS_CUI:C0025193 disease_ontology hairy cell leukemia DOID:285 ICD10CM:C91.4 ICD10CM:C91.40 ICD9CM:202.4 MSH:D007943 NCI:C7402 SNOMEDCT_US_2015_03_01:118613001 SNOMEDCT_US_2015_03_01:188644003 SNOMEDCT_US_2015_03_01:188653005 SNOMEDCT_US_2015_03_01:190066005 SNOMEDCT_US_2015_03_01:54087003 SNOMEDCT_US_2015_03_01:85228003 UMLS_CUI:C0023443 disease_ontology atrophy of thyroid DOID:2853 Hypoplasia of thyroid (disorder) Hypoplasia of thyroid (disorder) [Ambiguous] Thyroid Atrophy Thyroid atrophy (disorder) disease_ontology true SNOMEDCT_2005_07_31:190309006 Thyroid atrophy (disorder) NCI2004_11_17:C26942 Thyroid Atrophy Hypoplasia of thyroid (disorder) [Ambiguous] SNOMEDCT_2005_07_31:82482009 Hypoplasia of thyroid (disorder) SNOMEDCT_2005_07_31:367524008 hyperthyroxinemia DOID:2855 MSH:D006981 UMLS_CUI:C0020551 disease_ontology euthyroid sick syndrome DOID:2856 Euthyroid sick syndrome ICD10CM:E07.81 ICD9CM:790.94 MSH:D005067 NCI:C113170 SNOMEDCT_US_2015_03_01:237542005 Sick-euthyroid syndrome (disorder) UMLS_CUI:C0015190 disease_ontology Euthyroid sick syndrome ICD9CM_2006:790.94 SNOMEDCT_2005_07_31:237542005 Sick-euthyroid syndrome (disorder) abscess of thyroid DOID:2857 Thyroid gland abscess abscess of thyroid (disorder) disease_ontology true SNOMEDCT_2005_07_31:102452004 abscess of thyroid (disorder) NCI2004_11_17:C27115 Thyroid gland abscess hemoglobin C disease DOID:2859 Hb-C disease Hemoglobin C disease (disorder) ICD10CM:D58.2 MSH:D006445 NCI:C34675 SNOMEDCT_US_2015_03_01:51053007 UMLS_CUI:C0019021 disease_ontology Hb-C disease MTHICD9_2006:282.7 Hemoglobin C disease (disorder) SNOMEDCT_2005_07_31:51053007 hemoglobinopathy DOID:2860 ICD10CM:D58.2 MSH:D006453 NCI:C3092 SNOMEDCT_US_2015_03_01:154794008 SNOMEDCT_US_2015_03_01:267556002 SNOMEDCT_US_2015_03_01:80141007 UMLS_CUI:C0019045 disease_ontology hemoglobinopathies congenital nonspherocytic hemolytic anemia DOID:2861 HNSHA (disorder) MSH:D000746 OMIM:206300 OMIM:206400 OMIM:300908 OMIM:613470 ORDO:712 SNOMEDCT_US_2015_03_01:300389006 SNOMEDCT_US_2015_03_01:301317008 SNOMEDCT_US_2015_03_01:82775009 UMLS_CUI:C0002882 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. disease_ontology hereditary nonspherocytic hemolytic anemia CSP2005:0427-1697 hereditary nonspherocytic hemolytic anemia HNSHA (disorder) SNOMEDCT_2005_07_31:300389006 glucosephosphate dehydrogenase deficiency A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). DOID:2862 Glucose-6-phosphate dehydrogenase deficiency MSH:D005955 NCI:C98933 OMIM:305900 SNOMEDCT_US_2015_03_01:124134002 SNOMEDCT_US_2015_03_01:154738008 SNOMEDCT_US_2015_03_01:267498002 SNOMEDCT_US_2015_03_01:62403005 UMLS_CUI:C2939465 deficiency of G-6PD disease_ontology SNOMEDCT_2005_07_31:124134002 deficiency of G-6PD Glucose-6-phosphate dehydrogenase deficiency SNOMEDCT_2005_07_31:62403005 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency vision disorder DOID:287 disease_ontology true visual disorder SNOMEDCT_2005_07_31:40031005 visual disorder endometrial adenocarcinoma An endometrial carcinoma that derives_from epithelial cells of glandular origin. DOID:2870 DOID:5827 DOID:6650 NCI:C6287 NCI:C6290 NCI:C7359 SNOMEDCT_US_2015_03_01:123845008 SNOMEDCT_US_2015_03_01:189649001 SNOMEDCT_US_2015_03_01:189652009 SNOMEDCT_US_2015_03_01:309245001 UMLS_CUI:C0279763 UMLS_CUI:C1153706 UMLS_CUI:C1336905 adenocarcinoma of endometrium (disorder) adenocarcinoma of the Endometrium adenocarcinoma of uterus (disorder) disease_ontology endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma NOS (morphologic abnormality) endometrioid adenomas and carcinomas (morphologic abnormality) endometrioid carcinoma of Endometrium An endometrial carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C7359 adenocarcinoma of the Endometrium SNOMEDCT_2005_07_31:309245001 adenocarcinoma of uterus (disorder) NCI2004_11_17:C8027 endometrial endometrioid adenocarcinoma with squamous differentiation SNOMEDCT_2005_07_31:123845008 adenocarcinoma of endometrium (disorder) SNOMEDCT_2005_07_31:189652009 endometrioid adenoma or carcinoma NOS (morphologic abnormality) NCI2004_11_17:C6287 endometrioid carcinoma of Endometrium SNOMEDCT_2005_07_31:189649001 endometrioid adenomas and carcinomas (morphologic abnormality) endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus. DOID:2871 DOID:3000 MSH:D016889 MSH:D018269 NCI:C3769 NCI:C7558 OMIM mapping confirmed by DO. [SN]. OMIM:608089 SNOMEDCT_US_2015_03_01:154526001 SNOMEDCT_US_2015_03_01:254878006 SNOMEDCT_US_2015_03_01:269600001 SNOMEDCT_US_2015_03_01:30289006 SNOMEDCT_US_2015_03_01:93781006 UMLS_CUI:C0206687 UMLS_CUI:C0476089 carcinoma of the Endometrium disease_ontology endometrioid carcinoma endometrioid carcinoma of female Reproductive system NCI2004_11_17:C3769 endometrioid carcinoma of female Reproductive system A endometrial cancer that is located_in the tissue lining the uterus. url:http://www.cancer.gov/cancertopics/types/endometrial NCI2004_11_17:C7558 carcinoma of the Endometrium metastatic tumor to the larynx DOID:2873 disease_ontology true metastasis to the neck DOID:2874 disease_ontology metastatic tumor to the neck true NCI2004_11_17:C8528 metastatic tumor to the neck laryngeal squamous cell carcinoma A laryngeal carcinoma that has_material_basis_in squamous cells. DOID:2876 Epidermoid carcinoma of the Larynx NCI:C4044 SNOMEDCT_US_2015_03_01:405822008 SNOMEDCT_US_2015_03_01:707358000 UMLS_CUI:C0280324 disease_ontology squamous cell carcinoma of larynx (disorder) Epidermoid carcinoma of the Larynx NCI2004_11_17:C4044 SNOMEDCT_2005_07_31:405822008 squamous cell carcinoma of larynx (disorder) A laryngeal carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma larynx sarcoma A sarcoma and malignant neoplasm of larynx that is located_in the larynx. DOID:2877 NCI:C6020 UMLS_CUI:C1334377 disease_ontology sarcoma of larynx A sarcoma and malignant neoplasm of larynx that is located_in the larynx. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20larynx&c=pc&ss= NCI2004_11_17:C6020 sarcoma of larynx throat carcinoma DOID:2878 disease_ontology true nodular degeneration of cornea DOID:2879 ICD10CM:H18.45 ICD9CM:371.46 SNOMEDCT_US_2015_03_01:72620002 UMLS_CUI:C0155122 disease_ontology nodular degeneration of cornea (disorder) SNOMEDCT_2005_07_31:72620002 nodular degeneration of cornea (disorder) endometriosis of uterus Adenomyosis - uterine endomet. DOID:288 Endometriosis interna (disorder) Endometriosis of myometrium Endometriosis of myometrium (disorder) Endometriosis of uterus (disorder) Endometriosis of uterus NOS (disorder) Endometriosis, myometrium ICD10CM:N80.0 ICD9CM:617.0 MSH:D062788 NCI:C6996 OMIM mapping confirmed by DO. [SN]. OMIM:600458 SNOMEDCT_US_2015_03_01:155988000 SNOMEDCT_US_2015_03_01:198246007 SNOMEDCT_US_2015_03_01:198247003 SNOMEDCT_US_2015_03_01:198248008 SNOMEDCT_US_2015_03_01:198249000 SNOMEDCT_US_2015_03_01:237115002 SNOMEDCT_US_2015_03_01:76376003 UMLS_CUI:C0341858 disease_ontology uterine Adenomyosis Endometriosis of myometrium SNOMEDCT_2005_07_31:198248008 Endometriosis of uterus NOS (disorder) SNOMEDCT_2005_07_31:198249000 Endometriosis of myometrium (disorder) SNOMEDCT_2005_07_31:237115002 NCI2004_11_17:C6996 uterine Adenomyosis Endometriosis, myometrium MTHICD9_2006:617.0 Endometriosis interna (disorder) SNOMEDCT_2005_07_31:198247003 Adenomyosis - uterine endomet. SNOMEDCT_2005_07_31:155988000 Adenomyosis - uterine endomet. SNOMEDCT_2005_07_31:198246007 Endometriosis of uterus (disorder) SNOMEDCT_2005_07_31:76376003 Hantavirus infectious disease A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. DOID:2880 disease_ontology true A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. url:http://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome Cysts of iris, ciliary body and anterior chamber Cysts of iris, ciliary body and anterior chamber (disorder) Cysts of iris, ciliary body and anterior chamber NOS (disorder) Cysts of iris, ciliary body, and anterior chamber DOID:2882 disease_ontology true Cysts of iris, ciliary body and anterior chamber NOS (disorder) SNOMEDCT_2005_07_31:193516007 Cysts of iris, ciliary body, and anterior chamber ICD9CM_2006:364.6 Cysts of iris, ciliary body and anterior chamber (disorder) SNOMEDCT_2005_07_31:267621005 prostatic adenoma DOID:2883 MSH:D011470 NCI:C4795 SNOMEDCT_US_2015_03_01:155906003 SNOMEDCT_US_2015_03_01:197957005 SNOMEDCT_US_2015_03_01:21173002 SNOMEDCT_US_2015_03_01:266569009 SNOMEDCT_US_2015_03_01:270536001 UMLS_CUI:C0520477 adenoma - prostate adenoma of prostate benign adenoma of prostate benign adenoma of prostate (disorder) disease_ontology prostate adenoma SNOMEDCT_2005_07_31:155906003 adenoma - prostate SNOMEDCT_2005_07_31:270536001 adenoma - prostate SNOMEDCT_2005_07_31:197957005 benign adenoma of prostate SNOMEDCT_2005_07_31:21173002 benign adenoma of prostate (disorder) SNOMEDCT_2005_07_31:266569009 benign adenoma of prostate NCI2004_11_17:C4795 prostate adenoma MTHICD9_2006:600.2 adenoma of prostate benign prostate phyllodes tumor DOID:2885 DOID:2886 NCI:C5532 NCI:C7574 Phyllodes neoplasm of the prostate UMLS_CUI:C1332535 UMLS_CUI:C1335409 benign Phyllodes neoplasm of the prostate disease_ontology prostate phyllodes tumor NCI2004_11_17:C5532 benign Phyllodes neoplasm of the prostate NCI2004_11_17:C7574 Phyllodes neoplasm of the prostate prostate leiomyoma DOID:2887 NCI:C5544 Prostatic leiomyoma UMLS_CUI:C1335510 disease_ontology NCI2004_11_17:C5544 Prostatic leiomyoma retrocochlear disease DOID:2889 MSH:D012181 UMLS_CUI:C0035352 disease_ontology endometriosis A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. DOID:289 EFO:0001065 ICD10CM:N80 ICD10CM:N80.9 ICD9CM:617 ICD9CM:617.9 MSH:D004715 NCI:C3014 SNOMEDCT_US_2015_03_01:103677003 SNOMEDCT_US_2015_03_01:11871002 SNOMEDCT_US_2015_03_01:129103003 SNOMEDCT_US_2015_03_01:155988000 SNOMEDCT_US_2015_03_01:198246007 SNOMEDCT_US_2015_03_01:198259004 SNOMEDCT_US_2015_03_01:266588002 SNOMEDCT_US_2015_03_01:396224008 UMLS_CUI:C0014175 disease_ontology A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. PMID:20574791 url:https://en.wikipedia.org/?title=Endometriosis primary Klebsiella infectious disease DOID:2890 disease_ontology true thyroid adenoma DOID:2891 MSH:D013964 NCI:C3502 SNOMEDCT_US_2015_03_01:154623004 SNOMEDCT_US_2015_03_01:189174004 SNOMEDCT_US_2015_03_01:255033000 SNOMEDCT_US_2015_03_01:255034006 SNOMEDCT_US_2015_03_01:269644003 UMLS_CUI:C0151468 adenoma of thyroid gland disease_ontology SNOMEDCT_2005_07_31:189174004 adenoma of thyroid gland exocervical carcinoma DOID:2892 NCI:C7453 SNOMEDCT_US_2015_03_01:372100004 UMLS_CUI:C1299238 carcinoma of exocervix carcinoma of the Exocervix disease_ontology SNOMEDCT_2005_07_31:372100004 carcinoma of exocervix NCI2004_11_17:C7453 carcinoma of the Exocervix cervix carcinoma A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2893 MSH:D002583 NCI:C9039 OMIM mapping confirmed by DO. [SN]. OMIM:603956 SNOMEDCT_US_2015_03_01:154522004 SNOMEDCT_US_2015_03_01:154525002 SNOMEDCT_US_2015_03_01:188174005 SNOMEDCT_US_2015_03_01:269596006 SNOMEDCT_US_2015_03_01:269599004 SNOMEDCT_US_2015_03_01:285432005 SNOMEDCT_US_2015_03_01:363354003 SNOMEDCT_US_2015_03_01:93752005 UMLS_CUI:C0302592 cancer of cervix carcinoma OF CERVIX carcinoma cervix uteri carcinoma of cervix (disorder) carcinoma of the Cervix Uteri disease_ontology SNOMEDCT_2005_07_31:93752005 cancer of cervix MTH:166 carcinoma OF CERVIX SNOMEDCT_2005_07_31:285432005 carcinoma of cervix (disorder) A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Cervical_cancer NCI2004_11_17:C9039 carcinoma of the Cervix Uteri SNOMEDCT_2005_07_31:269596006 carcinoma cervix uteri commensal streptococcal infectious disease DOID:2898 Streptococcal infection, unspecified (disorder) Streptococcal infectious disease (disorder) Streptococcus infection disease_ontology true CSP2005:0368-3452 Streptococcus infection SNOMEDCT_2005_07_31:85769006 Streptococcal infectious disease (disorder) SNOMEDCT_2005_07_31:187343001 Streptococcal infection, unspecified (disorder) commensal Escherichia coli infectious disease DOID:2905 E Coli Infection Escherichia coli infection Infection due to Escherichia coli (disorder) disease_ontology true CSP2005:0368-2714 Escherichia coli infection Infection due to Escherichia coli (disorder) SNOMEDCT_2005_07_31:71057007 E Coli Infection NCI2004_11_17:C34594 Rhabditida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. DOID:2906 disease_ontology true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. url:http://en.wikipedia.org/wiki/Rhabditida Goldenhar syndrome A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. DOID:2907 Facio-auriculo-vertebral spectrum (disorder) First AND second branchial arch syndrome First arch syndrome (disorder) HEMIFACIAL MICROSOMIA ICD10CM:Q87.0 MSH:D006053 NCI:C84740 OAV (oculoauriculovertebral) dysplasia OMIM mapping confirmed by DO. [SN]. OMIM:164210 ORDO:374 Otomandibular dysostosis (disorder) SNOMEDCT_US_2015_03_01:109393007 SNOMEDCT_US_2015_03_01:15557005 SNOMEDCT_US_2015_03_01:205418005 SNOMEDCT_US_2015_03_01:254025006 SNOMEDCT_US_2015_03_01:254026007 SNOMEDCT_US_2015_03_01:367462009 SNOMEDCT_US_2015_03_01:46567003 UMLS_CUI:C0265240 disease_ontology Facio-auriculo-vertebral spectrum (disorder) SNOMEDCT_2005_07_31:367462009 First arch syndrome (disorder) SNOMEDCT_2005_07_31:15557005 Otomandibular dysostosis (disorder) SNOMEDCT_2005_07_31:109393007 First AND second branchial arch syndrome SNOMEDCT_2005_07_31:254025006 CSP2005:0725-7823 OAV (oculoauriculovertebral) dysplasia A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. url:http://en.wikipedia.org/wiki/Goldenhar_syndrome url:http://www.faces-cranio.org/Disord/Golden.htm url:http://www.healthline.com/galecontent/goldenhar-syndrome Treacher Collins syndrome (Mandibulofacial dysostosis) or (Franceschetti syndrome) DOID:2908 ICD10CM:Q75.4 MSH:D008342 NCI:C75018 OMIM mapping confirmed by DO. [SN]. OMIM:154500 OMIM:248390 OMIM:613717 SNOMEDCT_US_2015_03_01:205416009 SNOMEDCT_US_2015_03_01:205804007 SNOMEDCT_US_2015_03_01:82203000 UMLS_CUI:C0242387 disease_ontology mandibulofacial dysostosis (Mandibulofacial dysostosis) or (Franceschetti syndrome) SNOMEDCT_2005_07_31:205416009 septic abortion DOID:2910 Septic abortion (disorder) abortion with sepsis disease_ontology true SNOMEDCT_2005_07_31:30260009 abortion with sepsis SNOMEDCT_2005_07_31:8272009 Septic abortion (disorder) acute pancreatitis DOID:2912 DOID:2913 ICD10CM:K85 ICD10CM:K85.9 ICD9CM:577.0 NCI:C95437 PANCREATITIS NECROTIZING SNOMEDCT_US_2015_03_01:155834006 SNOMEDCT_US_2015_03_01:197456007 SNOMEDCT_US_2015_03_01:197457003 SNOMEDCT_US_2015_03_01:197461009 SNOMEDCT_US_2015_03_01:266476001 SNOMEDCT_US_2015_03_01:39726008 UMLS_CUI:C0001339 acute necrotizing pancreatitis acute necrotizing pancreatitis (disorder) acute pancreatitis (disorder) acute pancreatitis (disorder) [Ambiguous] acute pancreatitis NOS acute pancreatitis NOS (disorder) acute pancreatitis unspecified (disorder) disease_ontology SNOMEDCT_2005_07_31:197461009 acute pancreatitis NOS SNOMEDCT_2005_07_31:7881005 acute necrotizing pancreatitis (disorder) SNOMEDCT_2005_07_31:266476001 acute pancreatitis NOS (disorder) SNOMEDCT_2005_07_31:197457003 acute pancreatitis unspecified (disorder) MTH:NOCODE PANCREATITIS NECROTIZING SNOMEDCT_2005_07_31:197456007 acute pancreatitis (disorder) SNOMEDCT_2005_07_31:39726008 acute pancreatitis (disorder) [Ambiguous] immune system disease A disease of anatomical entity that is located_in the immune system. DOID:2914 EFO:0000540 ICD10CM:D89.9 ICD9CM:279 ICD9CM:279.9 SNOMEDCT_US_2015_03_01:154782004 SNOMEDCT_US_2015_03_01:191015009 SNOMEDCT_US_2015_03_01:191019003 SNOMEDCT_US_2015_03_01:191035005 UMLS_CUI:C0041806 disease_ontology A disease of anatomical entity that is located_in the immune system. url:http://en.wikipedia.org/wiki/Immune_system hypersensitivity reaction type IV disease DOID:2916 ICD10CM:C88.9 MSH:D007160 SNOMEDCT_US_2015_03_01:127071007 SNOMEDCT_US_2015_03_01:134363002 SNOMEDCT_US_2015_03_01:86295000 UMLS_CUI:C0021070 disease_ontology immunoproliferative disease cryoglobulinemia A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. CRYOGLOBULINEMIA Cryoimmunoglobulinaemia DOID:2917 ICD10CM:D89.1 MSH:D003449 NCI:C26736 SNOMEDCT_US_2015_03_01:30911005 UMLS_CUI:C0010403 disease_ontology CRYOGLOBULINEMIA MTH:NOCODE Cryoimmunoglobulinaemia SNOMEDCT_2005_07_31:30911005 A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. ls:IEDB url:http://en.wikipedia.org/wiki/Cryoglobulinemia url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm paraproteinemia A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. DOID:2918 Paraproteinaemia Paraproteinemia Paraproteinemia (disorder) Paraproteinemia NOS (disorder) disease_ontology paraproteinemia true Paraproteinemia NOS (disorder) SNOMEDCT_2005_07_31:190816000 A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. url:http://en.wikipedia.org/wiki/Paraproteinemia Paraproteinemia (disorder) SNOMEDCT_2005_07_31:278501001 Paraproteinemia SNOMEDCT_2005_07_31:123061006 NCI2004_11_17:C27468 Paraproteinemia Paraproteinaemia SNOMEDCT_2005_07_31:35601003 CSP2005:0449-2705 paraproteinemia lacrimal system cancer DOID:292 NCI:C5102 SNOMEDCT_US_2015_03_01:416510003 UMLS_CUI:C1334361 disease_ontology lacrimal system neoplasm neoplasm of lacrimal system (disorder) tumor of the lacrimal system NCI2004_11_17:C5102 tumor of the lacrimal system SNOMEDCT_2005_07_31:416510003 neoplasm of lacrimal system (disorder) membranoproliferative glomerulonephritis DOID:2920 Lobular glomerulonephritis MSH:D015432 Membranoproliferative Glomerulonephritis Membranoproliferative glomerulonephritis NOS NCI:C34644 SNOMEDCT_US_2015_03_01:80321008 UMLS_CUI:C0017662 chronic glomerulonephritis, lobular disease_ontology MTHICD9_2006:583.2 Membranoproliferative glomerulonephritis NOS Lobular glomerulonephritis SNOMEDCT_2005_07_31:80321008 Membranoproliferative Glomerulonephritis NCI2004_11_17:C34644 MTHICD9_2006:582.2 chronic glomerulonephritis, lobular glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney. DOID:2921 ICD10CM:N05 ICD10CM:N08 MSH:D005921 NCI:C26784 SNOMEDCT_US_2015_03_01:197648001 SNOMEDCT_US_2015_03_01:36171008 UMLS_CUI:C0017658 disease_ontology A nephritis that causes inflammation of the glomeruli located_in kidney. sn:IEDB url:http://en.wikipedia.org/wiki/Glomerulonephritis Klippel-Trenaunay syndrome A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. DOID:2926 Haemangiectatic hypertrophy ICD10CM:Q87.2 Klippel-Trenaunay-Weber syndrome MSH:D007715 NCI:C84801 OMIM mapping confirmed by DO. [SN]. OMIM:149000 SNOMEDCT_US_2015_03_01:59078009 UMLS_CUI:C0022739 angioosteohypertrophy syndrome disease_ontology Haemangiectatic hypertrophy SNOMEDCT_2005_07_31:59078009 A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome url:http://omim.org/entry/149000 Newcastle disease A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. DOID:2929 MSH:D009521 NCI:C34849 Newcastle disease (disorder) Newcastle disease [Ambiguous] Newcastle's disease Pseudo-fowlpest SNOMEDCT_US_2015_03_01:155162002 SNOMEDCT_US_2015_03_01:231859001 SNOMEDCT_US_2015_03_01:258300000 SNOMEDCT_US_2015_03_01:267734002 SNOMEDCT_US_2015_03_01:89366008 UMLS_CUI:C0027983 disease_ontology A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. url:http://en.wikipedia.org/wiki/Newcastle_disease url:http://www.daff.gov.au/animal-plant-health/pests-diseases-weeds/animal/newcastle url:http://www.inspection.gc.ca/english/sci/bio/anima/disemala/newcaste.shtml Newcastle's disease SNOMEDCT_2005_07_31:155162002 Pseudo-fowlpest SNOMEDCT_2005_07_31:231859001 Newcastle disease (disorder) SNOMEDCT_2005_07_31:258300000 Newcastle's disease SNOMEDCT_2005_07_31:267734002 Newcastle disease [Ambiguous] SNOMEDCT_2005_07_31:89366008 lacrimal gland carcinoma DOID:293 NCI:C6129 UMLS_CUI:C1334358 carcinoma of the lacrimal gland disease_ontology NCI2004_11_17:C6129 carcinoma of the lacrimal gland Avulavirus infectious disease A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. DOID:2930 disease_ontology true A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. url:http://www.expasy.ch/viralzone/all_by_species/84.html aleutian mink disease A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. Aleutian disease (disorder) DOID:2934 MSH:D000453 SNOMEDCT_US_2015_03_01:62251004 UMLS_CUI:C0002016 disease_ontology A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. url:http://en.wikipedia.org/wiki/Aleutian_Disease url:http://www.cdc.gov/eid/content/15/12/2040.htm Aleutian disease (disorder) SNOMEDCT_2005_07_31:62251004 Chediak-Higashi syndrome An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene. CHS Chediak - Steinbrinck anomaly DOID:2935 ICD10CM:D72.0 ICD10CM:E70.330 MSH:D002609 NCI:C2941 OMIM mapping confirmed by DO. [SN]. OMIM:214500 ORDO:167 SNOMEDCT_US_2015_03_01:111396008 SNOMEDCT_US_2015_03_01:123309000 SNOMEDCT_US_2015_03_01:190696004 SNOMEDCT_US_2015_03_01:191356000 UMLS_CUI:C0007965 disease_ontology Chediak - Steinbrinck anomaly SNOMEDCT_2005_07_31:191356000 An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene. PMID:25129365 url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome Parvoviridae infectious disease A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. DOID:2936 disease_ontology true A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. url:http://en.wikipedia.org/wiki/Parvoviridae Human herpesvirus 8 infectious disease A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. DOID:2937 disease_ontology true A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. url:http://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320 Epstein-Barr virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva. DOID:2938 EBV Infection Epstein-Barr virus infection (disorder) Tumor Virus Infections disease_ontology true EBV Infection NCI2004_11_17:C38759 Epstein-Barr virus infection (disorder) SNOMEDCT_2005_07_31:402121009 A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva. url:http://www.cdc.gov/ncidod/diseases/ebv.htm Herpesviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. DOID:2939 Herpesviridae disease Herpesvirus infection (disorder) disease_ontology true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. url:http://en.wikipedia.org/wiki/Herpesviridae CSP2005:3099-9294 Herpesviridae disease Herpesvirus infection (disorder) SNOMEDCT_2005_07_31:23513009 lacrimal gland cancer DOID:291 DOID:294 ICD9CM:190.2 NCI:C3563 NCI:C4360 SNOMEDCT_US_2015_03_01:127004000 SNOMEDCT_US_2015_03_01:188271007 SNOMEDCT_US_2015_03_01:188272000 SNOMEDCT_US_2015_03_01:93853008 UMLS_CUI:C0153627 UMLS_CUI:C0339124 disease_ontology malignant neoplasm of lacrimal gland malignant tumour of lacrimal gland neoplasm of lacrimal gland (disorder) tumor of the lacrimal gland NCI2004_11_17:C4360 tumor of the lacrimal gland SNOMEDCT_2005_07_31:188271007 malignant tumour of lacrimal gland SNOMEDCT_2005_07_31:93853008 malignant neoplasm of lacrimal gland SNOMEDCT_2005_07_31:127004000 neoplasm of lacrimal gland (disorder) bronchiolitis A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. DOID:2942 MSH:D001988 NCI:C39658 SNOMEDCT_US_2015_03_01:4120002 UMLS_CUI:C0006271 disease_ontology A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. url:http://en.wikipedia.org/wiki/Bronchiolitis Poxviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. DOID:2943 Poxviridae disease disease due to unassigned Poxviridae (disorder) disease_ontology true CSP2005:3100-0734 Poxviridae disease SNOMEDCT_2005_07_31:32790009 disease due to unassigned Poxviridae (disorder) A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. url:http://en.wikipedia.org/wiki/Poxviridae severe acute respiratory syndrome A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. DOID:2945 ICD10CM:J12.81 ICD9CM:079.82 MSH:D045169 NCI:C85064 SARS SARS-CoV infection SNOMEDCT_US_2015_03_01:398447004 UMLS_CUI:C1175175 disease_ontology CSP2005:5004-0074 SARS SARS-CoV infection SNOMEDCT_2005_07_31:398447004 A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. url:http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS coronavirus infectious disease A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. DOID:2946 disease_ontology true A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronavirus Yellow fever virus infectious disease A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. DOID:2947 disease_ontology true A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html Coronaviridae infectious disease A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. DOID:2948 disease_ontology true A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronaviridae Nidovirales infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. DOID:2949 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. url:http://en.wikipedia.org/wiki/Nidovirales eye carcinoma An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. DOID:295 NCI:C6079 Ocular carcinoma UMLS_CUI:C0848866 carcinoma of eye disease_ontology NCI2004_11_17:C6079 Ocular carcinoma An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. url:http://www.cancer.gov/dictionary/?CdrID=444991 Orbivirus infectious disease A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. DOID:2950 disease_ontology true A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. url:http://en.wikipedia.org/wiki/Orbivirus motion sickness DOID:2951 ICD10CM:T75.3 ICD9CM:994.6 MSH:D009041 Motion sickness Motion sickness (disorder) Motion sickness NOS (disorder) NCI:C34824 OMIM mapping confirmed by DO. [SN]. OMIM:158280 SNOMEDCT_US_2015_03_01:157749008 SNOMEDCT_US_2015_03_01:212973000 SNOMEDCT_US_2015_03_01:212974006 SNOMEDCT_US_2015_03_01:269278001 SNOMEDCT_US_2015_03_01:37031009 Travel Sickness Travel sickness Travel sickness, unspecified Travel sickness, unspecified (disorder) UMLS_CUI:C0026603 disease_ontology SNOMEDCT_2005_07_31:212973000 Travel sickness, unspecified SNOMEDCT_2005_07_31:269278001 Travel sickness, unspecified (disorder) SNOMEDCT_2005_07_31:157749008 Travel sickness Motion sickness NOS (disorder) SNOMEDCT_2005_07_31:212974006 NCI2004_11_17:C34824 Travel Sickness MTHICD9_2006:994.6 Travel sickness Motion sickness (disorder) SNOMEDCT_2005_07_31:37031009 ICD9CM_2006:994.6 Motion sickness inner ear disease DOID:2952 ICD10CM:H80-H83 ICD10CM:H83.9 ICD10CM:H83.90 Inner ear disorder NCI:C27166 SNOMEDCT_US_2015_03_01:194690003 SNOMEDCT_US_2015_03_01:232297009 UMLS_CUI:C0494559 disease of inner ear (disorder) disease_ontology disorder of inner ear (disorder) SNOMEDCT_2005_07_31:194690003 disease of inner ear (disorder) Inner ear disorder NCI2004_11_17:C27166 SNOMEDCT_2005_07_31:232297009 disorder of inner ear (disorder) intra-abdominal lymphangioma DOID:2956 disease_ontology true pulmonary tuberculosis A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. DOID:2957 ICD10CM:A15 ICD10CM:A15.0 ICD9CM:011 ICD9CM:011.9 ICD9CM:011.90 MSH:D014397 NCI:C26899 SNOMEDCT_US_2015_03_01:154283005 SNOMEDCT_US_2015_03_01:186180006 SNOMEDCT_US_2015_03_01:397190009 SNOMEDCT_US_2015_03_01:700272008 SNOMEDCT_US_2015_03_01:81483001 UMLS_CUI:C0041327 disease_ontology A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis environmental illness DOID:2958 disease_ontology true hyperimmunoglobulin syndrome DOID:2959 NCI:C27579 UMLS_CUI:C1334069 disease_ontology mixed lacrimal gland cancer DOID:296 NCI:C6804 SNOMEDCT_US_2015_03_01:254989000 UMLS_CUI:C0346342 carcinoma Ex Pleomorphic adenoma of the lacrimal gland carcinoma ex pleomorphic adenoma of lacrimal gland (disorder) disease_ontology malignant mixed neoplasm of lacrimal gland NCI2004_11_17:C6090 malignant mixed neoplasm of lacrimal gland SNOMEDCT_2005_07_31:254989000 carcinoma ex pleomorphic adenoma of lacrimal gland (disorder) NCI2004_11_17:C6804 carcinoma Ex Pleomorphic adenoma of the lacrimal gland photosensitive trichothiodystrophy DOID:2960 IBIDS syndrome MSH:D054463 NCI:C4924 OMIM mapping confirmed by DO. [SN]. OMIM:601675 Tay syndrome UMLS_CUI:C1955934 disease_ontology sulfur-deficient brittle hair syndrome trichothiodystrophy trichothiodystrophy with congenital ichthyosis NCI2004_11_17:C4924 trichothiodystrophy DNA repair deficiency A monogenic disease that results from a reduced functionality of DNA repair. DNA Repair disorder DOID:2961 deficiency of DNA repair (finding) disease_ontology true DNA Repair disorder NCI2004_11_17:C7757 A monogenic disease that results from a reduced functionality of DNA repair. url:http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder SNOMEDCT_2005_07_31:28965003 deficiency of DNA repair (finding) Cockayne syndrome An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Cockayne's syndrome DOID:2962 ICD10CM:Q87.1 MSH:D003057 NCI:C9460 OMIM:133540 OMIM:216400 OMIM:216411 ORDO:191 ORDO:90321 ORDO:90322 ORDO:90324 SNOMEDCT_US_2015_03_01:205832003 SNOMEDCT_US_2015_03_01:21086008 UMLS_CUI:C0009207 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology CSP2005:0977-5812 Cockayne's syndrome An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. url:http://en.wikipedia.org/wiki/Cockayne_syndrome url:http://en.wikipedia.org/wiki/ERCC6 url:http://en.wikipedia.org/wiki/ERCC8 url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411 periarthritis DOID:2964 ICD10CM:M77.9 MSH:D010489 SNOMEDCT_US_2015_03_01:156665008 SNOMEDCT_US_2015_03_01:202892006 SNOMEDCT_US_2015_03_01:268091003 SNOMEDCT_US_2015_03_01:50921008 UMLS_CUI:C0031037 disease_ontology bursitis Bursitis (disorder) Bursitis NOS Bursitis NOS (disorder) DOID:2965 ICD10CM:M71.9 MSH:D002062 NCI:C94407 SNOMEDCT_US_2015_03_01:156677003 SNOMEDCT_US_2015_03_01:156686008 SNOMEDCT_US_2015_03_01:202935009 SNOMEDCT_US_2015_03_01:268000007 SNOMEDCT_US_2015_03_01:84017003 UMLS_CUI:C0006444 disease_ontology Bursitis NOS SNOMEDCT_2005_07_31:202935009 Bursitis NOS MTHICD9_2006:727.3 Bursitis (disorder) SNOMEDCT_2005_07_31:84017003 Bursitis NOS SNOMEDCT_2005_07_31:156686008 Bursitis NOS (disorder) SNOMEDCT_2005_07_31:268000007 pleomorphic adenoma carcinoma DOID:297 NCI:C4397 SNOMEDCT_US_2015_03_01:17264009 SNOMEDCT_US_2015_03_01:189811003 UMLS_CUI:C0344460 carcinoma ex pleomorphic adenoma (morphologic abnormality) carcinoma in pleomorphic adenoma disease_ontology SNOMEDCT_2005_07_31:17264009 carcinoma ex pleomorphic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189811003 carcinoma in pleomorphic adenoma renal artery obstruction DOID:2972 ICD10CM:N28.0 MSH:D012078 UMLS_CUI:C0035066 disease_ontology kidney cortex necrosis DOID:2973 ICD10CM:N17.1 MSH:D007673 SNOMEDCT_US_2015_03_01:444691002 SNOMEDCT_US_2015_03_01:45456005 UMLS_CUI:C0022656 disease_ontology renal cortical necrosis renal cortical necrosis NOS MTHICD9_2006:583.6 renal cortical necrosis NOS SNOMEDCT_2005_07_31:45456005 renal cortical necrosis multicystic dysplastic kidney DOID:2974 Multicystic dysplastic kidney Multicystic kidney Multicystic kidney (disorder) disease_ontology true MTHICD9_2006:753.19 Multicystic kidney Multicystic dysplastic kidney SNOMEDCT_2005_07_31:82525005 Multicystic kidney (disorder) SNOMEDCT_2005_07_31:204962002 cystic kidney DOID:2975 KIDNEY CYST MSH:D052177 UMLS_CUI:C0022679 cystic kidney disease disease_ontology renal Cyst KIDNEY CYST MTH:646 SNOMEDCT_2005_07_31:268332003 cystic kidney disease NCI2004_11_17:C3970 renal Cyst glomerular vascular disorder DOID:2976 disease_ontology true primary hyperoxaluria DOID:2977 DOID:2979 ICD10CM:E72.53 MSH:D006959 MSH:D006960 OMIM mapping confirmed by DO. [SN]. OMIM:260000 OMIM:613616 SNOMEDCT_US_2015_03_01:17901006 SNOMEDCT_US_2015_03_01:190766003 SNOMEDCT_US_2015_03_01:367621000119107 UMLS_CUI:C0020500 UMLS_CUI:C0020501 disease_ontology carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. DOID:2978 DOID:9434 ICD9CM:271.8 MSH:D002239 UMLS_CUI:C0007001 UMLS_CUI:C0029777 disease_ontology disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism CSP2005:0551-8201 inborn carbohydrate metabolism disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism lacrimal gland adenocarcinoma A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. DOID:298 NCI:C4541 SNOMEDCT_US_2015_03_01:254988008 UMLS_CUI:C0346341 adenocarcinoma of lacrimal gland disease_ontology A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma bone marrow tansplantation nephropathy DOID:2980 disease_ontology true kidney papillary necrosis DOID:2981 MSH:D007681 Necrotising renal papillitis Necrotizing renal papillitis Papillary necrosis (disorder) SNOMEDCT_US_2015_03_01:197651008 SNOMEDCT_US_2015_03_01:90241004 UMLS_CUI:C0022667 disease_ontology renal PAPILLITIS NECROTIZING MTH:NOCODE renal PAPILLITIS NECROTIZING Papillary necrosis (disorder) SNOMEDCT_2005_07_31:90241004 MTHICD9_2006:584.7 Necrotizing renal papillitis Necrotising renal papillitis SNOMEDCT_2005_07_31:197651008 perinephritis DOID:2982 MSH:D010501 Perinephritis (disorder) SNOMEDCT_US_2015_03_01:111404004 UMLS_CUI:C0031065 disease_ontology Perinephritis (disorder) SNOMEDCT_2005_07_31:111404004 anuria Anuria Anuria (context-dependent category) Anuria (finding) DOID:2983 MSH:D001002 SNOMEDCT_US_2015_03_01:139460001 SNOMEDCT_US_2015_03_01:158479000 SNOMEDCT_US_2015_03_01:207182009 SNOMEDCT_US_2015_03_01:2472002 Suppression of urinary secretion UMLS_CUI:C0003460 disease_ontology Anuria SNOMEDCT_2005_07_31:158479000 Anuria (context-dependent category) SNOMEDCT_2005_07_31:207182009 Anuria (finding) SNOMEDCT_2005_07_31:2472002 MTHICD9_2006:788.5 Suppression of urinary secretion chronic rejection of renal transplant CAN DOID:2985 chronic rejection of renal transplant (disorder) disease_ontology true SNOMEDCT_2005_07_31:236578006 chronic rejection of renal transplant (disorder) CAN NCI2004_11_17:C38145 IgA glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. Berger's IgA or IgG nephropathy (disorder) DOID:2986 EFO:0004194 Focal Glomerulonephritis IGA glomerulonephritis IgA nephropathy IgA nephropathy (disorder) MSH:D005922 NCI:C34643 NCI:C35280 OMIM mapping confirmed by DO. [SN]. OMIM:161950 SNOMEDCT_US_2015_03_01:236407003 UMLS_CUI:C0017661 disease_ontology primary IgA nephropathy (disorder) segmental glomerulonephritis SNOMEDCT_2005_07_31:68779003 primary IgA nephropathy (disorder) Berger's IgA or IgG nephropathy (disorder) SNOMEDCT_2005_07_31:197632002 CSP2005:4006-0049 IgA nephropathy IgA nephropathy NCI2004_11_17:C34643 Focal Glomerulonephritis NCI2004_11_17:C35280 CSP2005:1681-9807 segmental glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. url:http://en.wikipedia.org/wiki/IgA_nephropathy url:http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm IgA nephropathy (disorder) SNOMEDCT_2005_07_31:236407003 familial Mediterranean fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. DOID:2987 ICD10CM:E85.0 ICD9CM:277.31 MSH:D010505 NCI:C84707 OMIM:134610 OMIM:249100 ORDO:342 SNOMEDCT_US_2015_03_01:12579009 UMLS_CUI:C0031069 Xref MGI. OMIM mapping confirmed by DO. [SN]. benign paroxysmal peritonitis disease_ontology A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract MTHICD9_2006:277.3 benign paroxysmal peritonitis antiphospholipid syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). Antiphospholipid syndrome Antiphospholipid syndrome (disorder) DOID:2988 ICD10CM:D68.61 MSH:D016736 NCI:C61283 OMIM mapping confirmed by DO. [SN]. OMIM:107320 SNOMEDCT_US_2015_03_01:19267009 SNOMEDCT_US_2015_03_01:201450008 SNOMEDCT_US_2015_03_01:26843008 UMLS_CUI:C0085278 antiphospholipid antibody syndrome disease_ontology CSP2005:5002-0009 antiphospholipid antibody syndrome Antiphospholipid syndrome SNOMEDCT_2005_07_31:19267009 Antiphospholipid syndrome SNOMEDCT_2005_07_31:201450008 A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). ls:IEDB url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome Antiphospholipid syndrome (disorder) SNOMEDCT_2005_07_31:26843008 Atypical small acinar proliferation of the prostate gland DOID:2989 Prostatic Atypical small acinar Proliferation disease_ontology true NCI2004_11_17:C37268 Prostatic Atypical small acinar Proliferation adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. CSP:2000-0386 DOID:299 MSH:D000230 NCI:C2852 SNOMEDCT_US_2015_03_01:189578007 SNOMEDCT_US_2015_03_01:189582009 SNOMEDCT_US_2015_03_01:35917007 SNOMEDCT_US_2015_03_01:443961001 UMLS_CUI:C0001418 adenocarcinoma NOS (morphologic abnormality) adenocarcinoma, no subtype (morphologic abnormality) adenocarcinomas disease_ontology A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:189578007 adenocarcinomas SNOMEDCT_2005_07_31:189582009 adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:35917007 adenocarcinoma, no subtype (morphologic abnormality) tumor of specialized prostatic stroma DOID:2990 disease_ontology true stromal neoplasm DOID:2991 Stromal tumor (morphologic abnormality) disease_ontology stromal tumors true NCI2004_11_17:C6781 stromal tumors SNOMEDCT_2005_07_31:128752000 Stromal tumor (morphologic abnormality) prostate neuroendocrine neoplasm DOID:2992 NCI:C5545 UMLS_CUI:C1335515 disease_ontology neuroendocrine tumor of the prostate NCI2004_11_17:C5545 neuroendocrine tumor of the prostate germ cell cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. DOID:2157 DOID:2994 MSH:D009373 NCI:C3708 SNOMEDCT_US_2015_03_01:115233005 SNOMEDCT_US_2015_03_01:189839002 SNOMEDCT_US_2015_03_01:189854008 SNOMEDCT_US_2015_03_01:28307001 SNOMEDCT_US_2015_03_01:302853003 SNOMEDCT_US_2015_03_01:402878003 UMLS_CUI:C0205851 disease_ontology germ cell neoplasm germ cell tumour malignant tumor of the germ cell A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. url:http://en.wikipedia.org/wiki/Germ_cell_tumor NCI2004_11_17:C4925 malignant tumor of the germ cell SNOMEDCT_2005_07_31:28307001 germ cell tumour CSP2005:2016-0850 germ cell neoplasm ovarian mixed germ cell-sex cord neoplasm DOID:2995 Ovarian mixed germ cell-Sex Cord tumor disease_ontology true NCI2004_11_17:C7321 Ovarian mixed germ cell-Sex Cord tumor mixed germ cell-sex cord neoplasm DOID:2996 NCI:C5241 SNOMEDCT_US_2015_03_01:406096006 SNOMEDCT_US_2015_03_01:703601005 UMLS_CUI:C1321220 disease_ontology mixed germ cell-Sex Cord tumor mixed germ cell-sex cord-stromal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:406096006 mixed germ cell-sex cord-stromal tumor (morphologic abnormality) NCI2004_11_17:C5241 mixed germ cell-Sex Cord tumor Sertoli-Leydig cell tumor DOID:2997 MSH:D018310 SNOMEDCT_US_2015_03_01:34110004 UMLS_CUI:C0206723 disease_ontology testicular cancer A male reproductive system cancer that is located_in the testicles. DOID:12231 DOID:2998 DOID:5554 ICD10CM:C62 ICD10CM:C62.9 ICD10CM:C62.90 ICD9CM:186 MSH:D013736 NCI:C3404 NCI:C5053 NCI:C7251 OMIM mapping confirmed by DO. [SN]. OMIM:273300 SNOMEDCT_US_2015_03_01:126900000 SNOMEDCT_US_2015_03_01:188228003 SNOMEDCT_US_2015_03_01:236778008 SNOMEDCT_US_2015_03_01:269472003 SNOMEDCT_US_2015_03_01:363449006 SNOMEDCT_US_2015_03_01:94087009 UMLS_CUI:C0039590 UMLS_CUI:C0153594 UMLS_CUI:C1333010 childhood neoplasm of the testis disease_ontology neoplasm of testis (disorder) pediatric testicular neoplasm testicular tumor testicular tumor (disorder) testis cancer testis neoplasm SNOMEDCT_2005_07_31:236778008 testicular tumor (disorder) A male reproductive system cancer that is located_in the testicles. url:http://www.cancer.gov/dictionary?CdrID=445090 NCI2004_11_17:C5053 pediatric testicular neoplasm CSP2005:2016-2999 testis neoplasm SNOMEDCT_2005_07_31:126900000 neoplasm of testis (disorder) NCI2004_11_17:C3404 testicular tumor granulosa cell tumor DOID:2999 DOID:5333 Granulosa cell neoplasm Granulosa cell tumor, adult type (morphologic abnormality) Granulosa cell tumour, sarcomatoid MSH:D006106 NCI:C3070 NCI:C4205 SNOMEDCT_US_2015_03_01:18861007 SNOMEDCT_US_2015_03_01:189734000 SNOMEDCT_US_2015_03_01:46585005 UMLS_CUI:C0018206 UMLS_CUI:C0334401 disease_ontology malignant granulosa cell neoplasm Granulosa cell neoplasm NCI2004_11_17:C3070 Granulosa cell tumor, adult type (morphologic abnormality) SNOMEDCT_2005_07_31:46585005 Granulosa cell tumour, sarcomatoid SNOMEDCT_2005_07_31:18861007 disease by environmental exposure A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. DOID:2711 DOID:3 disease_ontology environmentally induced disease true A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. DO:wk,ls URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment female reproductive endometrioid cancer DOID:3001 NCI:C7113 SNOMEDCT_US_2015_03_01:253013001 UMLS_CUI:C0474809 disease_ontology endometrioid neoplasm endometrioid tumor (morphologic abnormality) female reproductive endometrioid neoplasm SNOMEDCT_2005_07_31:253013001 endometrioid tumor (morphologic abnormality) NCI2004_11_17:C7113 endometrioid neoplasm ovary neuroendocrine neoplasm DOID:3002 NCI:C5237 UMLS_CUI:C1335172 disease_ontology neuroendocrine tumor of Ovary NCI2004_11_17:C5237 neuroendocrine tumor of Ovary nipple neoplasm DOID:3003 NCI:C5212 UMLS_CUI:C1112166 disease_ontology tumor of Nipple NCI2004_11_17:C5212 tumor of Nipple breast myoepithelial neoplasm DOID:3004 NCI:C40389 UMLS_CUI:C1511319 disease_ontology breast ductal carcinoma A breast carcinoma that derives_from the lining of milk ducts. DOID:3007 MSH:D044584 SNOMEDCT_US_2015_03_01:82711006 UMLS_CUI:C1176475 disease_ontology duct carcinoma, NOS A breast carcinoma that derives_from the lining of milk ducts. url:http://cancergenome.nih.gov/cancersselected/breastductal url:http://www.cancer.gov/dictionary?CdrID=45085 SNOMEDCT_2005_07_31:82711006 duct carcinoma, NOS invasive ductal carcinoma DOID:3005 DOID:3008 Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST MSH:D018270 NCI:C4017 NCI:C4194 SNOMEDCT_US_2015_03_01:408643008 SNOMEDCT_US_2015_03_01:58477004 UMLS_CUI:C1134719 UMLS_CUI:C1527349 disease_ontology ductal adenocarcinoma Infiltrating ductal carcinoma of breast SNOMEDCT_2005_07_31:408643008 NCI2004_11_17:C4017 ductal adenocarcinoma Invasive ductal carcinoma, NST NCI2004_11_17:C4194 breast neuroendocrine neoplasm DOID:3009 NCI:C5169 UMLS_CUI:C1332635 disease_ontology neuroendocrine tumor of the breast NCI2004_11_17:C5169 neuroendocrine tumor of the breast lobular neoplasia DOID:3010 Lobular Intraepithelial Neoplasia NCI:C27939 UMLS_CUI:C0861352 disease_ontology lobular carcinoma in situ Lobular Intraepithelial Neoplasia NCI2004_11_17:C27939 breast granular cell tumor DOID:3011 NCI:C40400 UMLS_CUI:C1511312 disease_ontology Li-Fraumeni syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. DOID:3012 Li-Fraumeni Familiar cancer Susceptibility syndrome MSH:D016864 NCI:C3476 OMIM:151623 OMIM:609265 OMIM:609266 ORDO:524 SBLA syndrome SNOMEDCT_US_2015_03_01:428850001 UMLS_CUI:C0085390 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology sarcoma, breast, leukaemia and adrenal gland syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. url:http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome url:http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome Li-Fraumeni Familiar cancer Susceptibility syndrome NCI2004_11_17:C3476 intraductal breast neoplasm DOID:3013 NCI:C36083 UMLS_CUI:C0948967 disease_ontology breast papillary neoplasm DOID:3015 Papillary tumor of breast disease_ontology true NCI2004_11_17:C5206 Papillary tumor of breast breast malignant phyllodes tumor DOID:1632 DOID:3016 DOID:3018 MSH:D003557 NCI:C4275 NCI:C4504 NCI:C7575 Phyllodes breast neoplasm Phyllodes tumor, malignant (morphologic abnormality) SNOMEDCT_US_2015_03_01:134331008 SNOMEDCT_US_2015_03_01:189826001 SNOMEDCT_US_2015_03_01:254844000 SNOMEDCT_US_2015_03_01:87913009 UMLS_CUI:C0238031 UMLS_CUI:C0346154 UMLS_CUI:C0600066 disease_ontology malignant Mammary Phyllodes tumor malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes (morphologic abnormality) malignant phyllodes tumor (morphologic abnormality) malignant phyllodes tumor of breast (disorder) phyllodes breast tumor SNOMEDCT_2005_07_31:254844000 malignant phyllodes tumor of breast (disorder) NCI2004_11_17:C4504 malignant Mammary Phyllodes tumor NCI2004_11_17:C7575 Phyllodes breast neoplasm SNOMEDCT_2005_07_31:189826001 malignant cystosarcoma phyllodes (morphologic abnormality) SNOMEDCT_2005_07_31:134331008 malignant phyllodes tumor (morphologic abnormality) Phyllodes tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:87913009 NCI2004_11_17:C4275 malignant Phyllodes neoplasm breast sarcoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. DOID:3017 NCI:C4670 SNOMEDCT_US_2015_03_01:278050001 UMLS_CUI:C0349667 disease_ontology sarcoma of breast (disorder) A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. url:http://en.wikipedia.org/wiki/Sarcoma SNOMEDCT_2005_07_31:278050001 sarcoma of breast (disorder) postpartum acute renal failure DOID:3019 disease_ontology true substance abuse A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. DOID:302 MSH:D019966 NCI:C16522 SNOMEDCT_US_2015_03_01:26416006 UMLS_CUI:C0013146 disease_ontology A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. url:http://allpsych.com/disorders/substance/substanceabuse.html url:http://en.wikipedia.org/wiki/Substance_abuse Complication of labor and/or delivery DOID:3020 disease_ontology true acute kidney failure DOID:3021 disease_ontology complication of the puerperium DOID:3022 disease_ontology true prostatic acinar adenocarcinoma DOID:3024 NCI:C5596 Prostatic acinar adenocarcinoma UMLS_CUI:C1332139 disease_ontology NCI2004_11_17:C5596 Prostatic acinar adenocarcinoma acinar cell carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. DOID:3025 MSH:D018267 NCI:C3768 SNOMEDCT_US_2015_03_01:45410002 UMLS_CUI:C0206685 acinar cell carcinoma (morphologic abnormality) acinic cell carcinoma disease_ontology SNOMEDCT_2005_07_31:45410002 acinar cell carcinoma (morphologic abnormality) NCI2004_11_17:C3768 acinic cell carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. url:http://radiology.rsna.org/content/232/2/554.full metastatic prostatic adenocarcinoma DOID:3026 disease_ontology true metastatic adenocarcinoma DOID:3027 adenocarcinoma, metastatic (morphologic abnormality) adenocarcinoma, metastatic, NOS (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:189584005 adenocarcinoma, metastatic, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:4590003 adenocarcinoma, metastatic (morphologic abnormality) intramucosal adenocarcinoma colon adenoma Colonic adenoma with Intramucosal adenocarcinoma DOID:3028 adenoma of colon with intramucosal adenocarcinoma disease_ontology true Colonic adenoma with Intramucosal adenocarcinoma NCI2004_11_17:C27413 colon mucinous adenocarcinoma Colonic mucinous adenocarcinoma DOID:3029 NCI:C7966 UMLS_CUI:C0279639 disease_ontology Colonic mucinous adenocarcinoma NCI2004_11_17:C7966 substance-related disorder A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. DOID:303 MSH:D019966 NCI:C92203 UMLS_CUI:C0236969 disease_ontology A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. url:http://allpsych.com/disorders/substance/index.html mucinous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. DOID:3030 DOID:4532 MSH:D002288 Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucin-producing adenocarcinoma (morphologic abnormality) Mucous carcinoma NCI:C26712 NCI:C27379 NCI:C27825 Pseudomyxoma peritonei with unknown primary site SNOMEDCT_US_2015_03_01:72495009 SNOMEDCT_US_2015_03_01:900006 UMLS_CUI:C0007130 UMLS_CUI:C0334368 disease_ontology mucin-producing adenocarcinoma Mucin-Secreting carcinoma NCI2004_11_17:C27825 Mucin-producing adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:900006 Mucin-Secreting adenocarcinoma NCI2004_11_17:C27379 Mucous carcinoma NCI2004_11_17:C26712 Pseudomyxoma peritonei with unknown primary site SNOMEDCT_2005_07_31:72495009 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm url:http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma colon signet ring adenocarcinoma Colonic Signet Ring adenocarcinoma DOID:3033 disease_ontology Colonic Signet Ring adenocarcinoma NCI2004_11_17:C7967 submucosal invasive colon adenocarcinoma DOID:3038 NCI:C38760 UMLS_CUI:C1515024 disease_ontology cecum adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. Cecal adenocarcinoma DOID:3039 NCI:C5543 SNOMEDCT_US_2015_03_01:413446001 UMLS_CUI:C1332866 adenocarcinoma of cecum adenocarcinoma of cecum (disorder) disease_ontology Cecal adenocarcinoma NCI2004_11_17:C5543 A cecum carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:413446001 adenocarcinoma of cecum (disorder) allergic contact dermatitis A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. Allergic Contact Dermatitis Allergic contact dermatitis Allergic contact dermatitis (disorder) DOID:3042 ICD10CM:L23 ICD10CM:L23.9 MSH:D017449 NCI:C26998 SNOMEDCT_US_2015_03_01:200841005 SNOMEDCT_US_2015_03_01:238575004 UMLS_CUI:C0162820 disease_ontology Allergic Contact Dermatitis NCI2004_11_17:C26998 Allergic contact dermatitis (disorder) SNOMEDCT_2005_07_31:238575004 Allergic contact dermatitis SNOMEDCT_2005_07_31:200841005 A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis food allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. DOID:3044 MSH:D005512 SNOMEDCT_US_2015_03_01:157801005 SNOMEDCT_US_2015_03_01:213018006 SNOMEDCT_US_2015_03_01:414285001 SNOMEDCT_US_2015_03_01:52332009 UMLS_CUI:C0016470 disease_ontology food hypersensitivity CSP2005:1525-0902 food hypersensitivity A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. url:http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx Wissler's syndrome A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia. DOID:3047 MSH:D014924 SNOMEDCT_US_2015_03_01:68190001 UMLS_CUI:C0043195 Wissler syndrome Wissler's subsepsis allergica Wissler-Fanconi syndrome (finding) disease_ontology A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia. url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/8150635 SNOMEDCT_2005_07_31:68190001 Wissler-Fanconi syndrome (finding) Churg-Strauss syndrome A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. Allergic Granulomatous Angiitis Allergic granulomatosis angiitis (disorder) Churg-Strauss vasculitis DOID:3049 ICD10CM:M30.1 MSH:D015267 NCI:C34481 SNOMEDCT_US_2015_03_01:195362002 SNOMEDCT_US_2015_03_01:82275008 UMLS_CUI:C0008728 disease_ontology Churg-Strauss vasculitis SNOMEDCT_2005_07_31:195362002 Allergic Granulomatous Angiitis NCI2004_11_17:C34481 A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 Allergic granulomatosis angiitis (disorder) SNOMEDCT_2005_07_31:82275008 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. CSP:2000-1867 DOID:2428 DOID:305 DOID:6570 MSH:D002277 MSH:D009375 NCI:C2916 NCI:C3709 SNOMEDCT_US_2015_03_01:118285006 SNOMEDCT_US_2015_03_01:134207000 SNOMEDCT_US_2015_03_01:154433003 SNOMEDCT_US_2015_03_01:188083002 SNOMEDCT_US_2015_03_01:189546004 SNOMEDCT_US_2015_03_01:189549006 SNOMEDCT_US_2015_03_01:189559007 SNOMEDCT_US_2015_03_01:269513004 SNOMEDCT_US_2015_03_01:68453008 SNOMEDCT_US_2015_03_01:71298006 UMLS_CUI:C0007097 UMLS_CUI:C0553707 UMLS_CUI:C1368683 disease_ontology epithelioma malignant Epithelioma NCI2004_11_17:C6927 malignant Epithelioma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma CSP2005:2000-5801 epithelioma Balkan nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. Balkan endemic nephropathy DEFN DOID:3052 Danubian endemic familial nephropathy ICD10CM:N15.0 MSH:D001449 NCI:C84584 OMIM mapping confirmed by DO. [SN]. OMIM:124100 SNOMEDCT_US_2015_03_01:197748005 SNOMEDCT_US_2015_03_01:26121002 UMLS_CUI:C0004698 disease_ontology An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. url:http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy paratyphoid fever A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. DOID:13324 DOID:13325 DOID:3053 DOID:3055 ICD10CM:A01.1 ICD10CM:A01.2 ICD10CM:A01.3 ICD10CM:A01.4 ICD9CM:002.1 ICD9CM:002.2 ICD9CM:002.3 ICD9CM:002.9 MSH:D010284 NCI:C34894 NCI:C34895 NCI:C34896 NCI:C34897 Paratyphoid Paratyphoid A fever (disorder) Paratyphoid B fever (disorder) Paratyphoid C fever (disorder) Paratyphoid Fever A Paratyphoid Fever B Paratyphoid Fever C Paratyphoid fever A Paratyphoid fever B Paratyphoid fever C SNOMEDCT_US_2015_03_01:154270009 SNOMEDCT_US_2015_03_01:186092009 SNOMEDCT_US_2015_03_01:187268002 SNOMEDCT_US_2015_03_01:266174006 SNOMEDCT_US_2015_03_01:51254007 SNOMEDCT_US_2015_03_01:71085009 SNOMEDCT_US_2015_03_01:76623002 SNOMEDCT_US_2015_03_01:85904008 UMLS_CUI:C0030528 UMLS_CUI:C0343375 UMLS_CUI:C0343376 UMLS_CUI:C0343377 disease_ontology paratyphoid a paratyphoid b paratyphoid c NCI2004_11_17:C34896 Paratyphoid Fever C Paratyphoid A fever (disorder) SNOMEDCT_2005_07_31:76623002 NCI2004_11_17:C34894 Paratyphoid Fever A ICD9CM_2006:002.2 Paratyphoid fever B ICD9CM_2006:002.3 Paratyphoid fever C Paratyphoid SNOMEDCT_2005_07_31:266174006 Paratyphoid B fever (disorder) SNOMEDCT_2005_07_31:71085009 NCI2004_11_17:C34895 Paratyphoid Fever B ICD9CM_2006:002.1 Paratyphoid fever A Paratyphoid C fever (disorder) SNOMEDCT_2005_07_31:51254007 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. url:http://en.wikipedia.org/wiki/Paratyphoid_fever Paramyxoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. DOID:3056 disease_ontology true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. url:http://en.wikipedia.org/wiki/Paramyxoviridae dyskinetic syndrome DOID:306 Dyskinesia disease_ontology true Dyskinesia SNOMEDCT_2005_07_31:206824003 taste disorder DOID:3067 disease_ontology disorder of taste (disorder) taste disorder true SNOMEDCT_2005_07_31:399993004 disorder of taste (disorder) CSP2005:2683-4340 taste disorder glioblastoma multiforme An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes. DOID:3068 DOID:3075 DOID:3080 GBM GBM (Glioblastoma) MSH:D005909 NCI:C3058 NCI:C39750 NCI:C9094 SNOMEDCT_US_2015_03_01:189917003 SNOMEDCT_US_2015_03_01:269506004 SNOMEDCT_US_2015_03_01:63634009 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 adult glioblastoma multiforme disease_ontology grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme GBM (Glioblastoma) NCI2004_11_17:C3058 An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes. url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 CSP2005:2012-6410 spongioblastoma multiforme NCI2004_11_17:C9094 grade IV adult Astrocytic tumor astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. Astrocytic tumor DOID:3069 DOID:4861 MSH:D001254 NCI:C4951 NCI:C60781 NCI:C6958 SNOMEDCT_US_2015_03_01:189914005 SNOMEDCT_US_2015_03_01:38713004 UMLS_CUI:C0004114 UMLS_CUI:C0750935 astrocytoma of Cerebrum astrocytoma of brain (disorder) astrocytoma, no ICD-O subtype (morphologic abnormality) astroglioma cerebral astrocytoma disease_ontology Astrocytic tumor NCI2004_11_17:C6958 SNOMEDCT_2005_07_31:38713004 astrocytoma, no ICD-O subtype (morphologic abnormality) A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. url:http://en.wikipedia.org/wiki/Astrocytoma url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors SNOMEDCT_2005_07_31:254938000 astrocytoma of brain (disorder) NCI2004_11_17:C4951 astrocytoma of Cerebrum CSP2005:2012-6768 astroglioma malignant glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. DOID:2627 DOID:3070 Gliomas (morphologic abnormality) KEGG:05214 MSH:D005910 NCI:C3059 NCI:C4822 Neuroglial tumor OMIM:137800 OMIM:607248 OMIM:613028 OMIM:613029 OMIM:613030 OMIM:613031 OMIM:613032 OMIM:613033 ORDO:182067 SNOMEDCT_US_2015_03_01:115240006 SNOMEDCT_US_2015_03_01:189908003 SNOMEDCT_US_2015_03_01:189909006 SNOMEDCT_US_2015_03_01:189926000 SNOMEDCT_US_2015_03_01:269505000 SNOMEDCT_US_2015_03_01:393564001 SNOMEDCT_US_2015_03_01:416500007 SNOMEDCT_US_2015_03_01:74532006 UMLS_CUI:C0017638 UMLS_CUI:C0555198 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology glial cell tumor glioma glioma (morphologic abnormality) glioma NOS glioma NOS (morphologic abnormality) glioma, NOS glioma, malignant glioma, malignant, no ICD-O subtype malignant Neuroglial tumor malignant glioma (morphologic abnormality) malignant glioma - category SNOMEDCT_2005_07_31:189926000 glioma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:74532006 glioma, malignant, no ICD-O subtype SNOMEDCT_2005_07_31:189909006 glioma NOS Gliomas (morphologic abnormality) SNOMEDCT_2005_07_31:189908003 SNOMEDCT_2005_07_31:189909006 glioma, malignant NCI2004_11_17:C3059 Neuroglial tumor CSP2005:2012-6589 glial cell tumor SNOMEDCT_2005_07_31:115240006 glioma (morphologic abnormality) A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. url:http://en.wikipedia.org/wiki/Malignant_glioma SNOMEDCT_2005_07_31:416500007 malignant glioma - category NCI2004_11_17:C4822 malignant Neuroglial tumor SNOMEDCT_2005_07_31:74532006 glioma, NOS SNOMEDCT_2005_07_31:269505000 malignant glioma (morphologic abnormality) gliosarcoma DOID:3071 Glioblastoma with sarcomatous component MSH:D018316 NCI:C3796 SNOMEDCT_US_2015_03_01:189909006 SNOMEDCT_US_2015_03_01:189918008 SNOMEDCT_US_2015_03_01:35262004 UMLS_CUI:C0206726 disease_ontology Glioblastoma with sarcomatous component SNOMEDCT_2005_07_31:189918008 secondary glioblastoma multiforme DOID:3072 disease_ontology true brain glioblastoma multiforme DOID:3073 Glioblastoma multiforme of brain (disorder) NCI:C4642 SNOMEDCT_US_2015_03_01:276828006 UMLS_CUI:C0349543 brain Glioblastoma disease_ontology Glioblastoma multiforme of brain (disorder) SNOMEDCT_2005_07_31:276828006 NCI2004_11_17:C4642 brain Glioblastoma giant cell glioblastoma A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. DOID:3074 MSH:D005909 Monstrocellular sarcoma [obs] NCI:C4325 SNOMEDCT_US_2015_03_01:44529004 UMLS_CUI:C0334588 disease_ontology Monstrocellular sarcoma [obs] SNOMEDCT_2005_07_31:44529004 A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant-cell_glioblastoma url:http://neuro-oncology.oxfordjournals.org/content/11/6/833.full adult astrocytic tumour DOID:3076 NCI:C7049 UMLS_CUI:C1332183 adult astrocytoma disease_ontology NCI2004_11_17:C7049 adult astrocytoma anaplastic childhood astrocytoma DOID:3077 Undifferentiated pediatric astrocytoma disease_ontology pediatric Glioblastoma Multiforme true NCI2004_11_17:C5136 pediatric Glioblastoma Multiforme NCI2004_11_17:C6215 Undifferentiated pediatric astrocytoma grade III astrocytoma An astrocytoma that is characterized by cells with regular, round to oval nuclei. DOID:3078 MSH:D001254 NCI:C9477 SNOMEDCT_US_2015_03_01:55353007 UMLS_CUI:C0334579 anaplastic astrocytoma disease_ontology grade III Astrocytic tumor NCI2004_11_17:C9477 grade III Astrocytic tumor An astrocytoma that is characterized by cells with regular, round to oval nuclei. url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma url:http://www.abta.org/brain-tumor-information/types-of-tumors/astrocytoma.html url:http://www.cancer.gov/dictionary?CdrID=45591 juvenile astrocytoma DOID:3079 Juvenile astrocytoma Juvenile astrocytoma (morphologic abnormality) NCI:C9022 SNOMEDCT_US_2015_03_01:128854008 SNOMEDCT_US_2015_03_01:253065004 SNOMEDCT_US_2015_03_01:67859002 UMLS_CUI:C1321865 disease_ontology pediatric astrocytoma Juvenile astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:253065004 Juvenile astrocytoma SNOMEDCT_2005_07_31:128854008 NCI2004_11_17:C9022 pediatric astrocytoma Juvenile astrocytoma SNOMEDCT_2005_07_31:67859002 early myoclonic encephalopathy DOID:308 Epileptic seizures - myoclonic (disorder) Epileptic seizures, myoclonic MSH:D004831 Myoclonic seizure Myoclonic seizure disorder SNOMEDCT_US_2015_03_01:192847001 SNOMEDCT_US_2015_03_01:192992007 SNOMEDCT_US_2015_03_01:37356005 UMLS_CUI:C0014550 disease_ontology myoclonia epileptica myoclonic epilepsy CSP2005:0485-7984 myoclonia epileptica Epileptic seizures, myoclonic MTHICD9_2006:345.1 Epileptic seizures - myoclonic (disorder) SNOMEDCT_2005_07_31:192992007 Myoclonic seizure SNOMEDCT_2005_07_31:192847001 Myoclonic seizure disorder SNOMEDCT_2005_07_31:37356005 cystic lymphangioma DOID:3081 MSH:D018191 NCI:C3724 SNOMEDCT_US_2015_03_01:399882002 SNOMEDCT_US_2015_03_01:40225001 SNOMEDCT_US_2015_03_01:423984004 UMLS_CUI:C0206620 cystic Hygroma cystic hygroma (disorder) cystic lymphangioma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:399882002 cystic hygroma (disorder) SNOMEDCT_2005_07_31:40225001 cystic lymphangioma (morphologic abnormality) NCI2004_11_17:C3724 cystic Hygroma interstitial lung disease DOID:3082 ICD10CM:J84.9 ILD MSH:D017563 SNOMEDCT_US_2015_03_01:233703007 SNOMEDCT_US_2015_03_01:64667001 UMLS_CUI:C0206062 disease_ontology CSP2005:4007-0072 ILD chronic obstructive pulmonary disease COLD (chronic obstructive lung disease) COPD DOID:11500 DOID:3083 DOID:6144 EFO:0000341 ICD10CM:J44.9 MSH:D029424 NCI:C3199 SNOMEDCT_US_2015_03_01:10169006 SNOMEDCT_US_2015_03_01:13645005 SNOMEDCT_US_2015_03_01:155565006 SNOMEDCT_US_2015_03_01:155569000 SNOMEDCT_US_2015_03_01:155585005 SNOMEDCT_US_2015_03_01:155617000 SNOMEDCT_US_2015_03_01:195935004 SNOMEDCT_US_2015_03_01:195948000 SNOMEDCT_US_2015_03_01:196003006 SNOMEDCT_US_2015_03_01:413846005 UMLS_CUI:C0024117 chronic obstructive airway disease chronic obstructive lung disease disease_ontology SNOMEDCT_2005_07_31:195948000 chronic obstructive lung disease COPD NCI2004_11_17:C3199 COLD (chronic obstructive lung disease) CSP2005:4004-0004 gingival overgrowth DOID:3086 Gingival enlargement (disorder) Gingival enlargement NOS Gingival enlargement NOS (disorder) ICD10CM:K06.1 MSH:D019214 SNOMEDCT_US_2015_03_01:196375006 SNOMEDCT_US_2015_03_01:271083000 SNOMEDCT_US_2015_03_01:54711002 UMLS_CUI:C0376480 disease_ontology Gingival enlargement (disorder) SNOMEDCT_2005_07_31:54711002 Gingival enlargement NOS MTHICD9_2006:523.8 Gingival enlargement NOS SNOMEDCT_2005_07_31:196375006 Gingival enlargement NOS (disorder) SNOMEDCT_2005_07_31:271083000 gingivitis DOID:10422 DOID:10424 DOID:3087 ICD10CM:K05.0 ICD10CM:K05.00 ICD10CM:K05.1 ICD10CM:K05.10 ICD9CM:523.0 ICD9CM:523.1 MSH:D005891 NCI:C34474 NCI:C34636 SNOMEDCT_US_2015_03_01:155643004 SNOMEDCT_US_2015_03_01:155644005 SNOMEDCT_US_2015_03_01:196355002 SNOMEDCT_US_2015_03_01:196358000 SNOMEDCT_US_2015_03_01:234990002 SNOMEDCT_US_2015_03_01:266490003 SNOMEDCT_US_2015_03_01:31642005 SNOMEDCT_US_2015_03_01:66383009 SNOMEDCT_US_2015_03_01:72621003 UMLS_CUI:C0008684 UMLS_CUI:C0017574 UMLS_CUI:C0155937 acute gingivitis chronic gingivitis disease_ontology ICD9CM_2006:523.1 SNOMEDCT_2005_07_31:155644005 SNOMEDCT_2005_07_31:196355002 SNOMEDCT_2005_07_31:266490003 chronic gingivitis granulomatous orchitis DOID:3089 NCI:C27162 Non-Specific Granulomatous Orchitis SNOMEDCT_US_2015_03_01:50390006 UMLS_CUI:C0436545 disease_ontology NCI2004_11_17:C27162 Non-Specific Granulomatous Orchitis testicular non-neoplastic disease DOID:3090 disease_ontology true Acinetobacter infectious disease DOID:3091 disease_ontology true opportunistic Moraxellaceae infectious disease DOID:3092 disease_ontology true nervous system cancer An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. DOID:1193 DOID:3093 DOID:3195 DOID:4695 ICD9CM:192 ICD9CM:192.9 MSH:D009380 NCI:C35562 SNOMEDCT_US_2015_03_01:188306000 UMLS_CUI:C0027665 UMLS_CUI:C0153643 UMLS_CUI:C1334956 disease_ontology malignant neoplasm of nervous system neoplasm of nervous system (disorder) nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. url:http://emedicine.medscape.com/oncology url:http://en.wikipedia.org/wiki/Nervous_system_disease NCI2004_11_17:C3268 tumor of the nervous system CSP2005:2012-5157 nervous system neoplasm NCI2004_11_17:C35562 neural tumor SNOMEDCT_2005_07_31:126950007 neoplasm of nervous system (disorder) neuroepithelial neoplasm DOID:3094 disease_ontology true tumor of Neuroepithelium NCI2004_11_17:C3787 tumor of Neuroepithelium germ cell and embryonal cancer A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells. DOID:3095 MSH:D009373 UMLS_CUI:C0027658 disease_ontology germ cell and embryonal neoplasm A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells. url:http://en.wikipedia.org/wiki/Germ_cell stenosis of lacrimal sac DOID:3096 ICD10CM:H04.57 ICD10CM:H04.579 ICD9CM:375.54 SNOMEDCT_US_2015_03_01:11772001 Stenosis of lacrimal sac (disorder) UMLS_CUI:C0155246 disease_ontology SNOMEDCT_2005_07_31:11772001 Stenosis of lacrimal sac (disorder) stenosis and insufficiency of lacrimal passage DOID:3097 Stenosis and insufficiency of lacrimal passages (disorder) Stenosis and insufficiency of lacrimal passages NOS (disorder) Stenosis of lacrimal passages disease_ontology true SNOMEDCT_2005_07_31:267739007 Stenosis of lacrimal passages SNOMEDCT_2005_07_31:155184002 Stenosis of lacrimal passages SNOMEDCT_2005_07_31:278514000 Stenosis and insufficiency of lacrimal passages (disorder) SNOMEDCT_2005_07_31:193996003 Stenosis and insufficiency of lacrimal passages NOS (disorder) small cell sarcoma DOID:3098 MSH:D018228 NCI:C3746 SNOMEDCT_US_2015_03_01:73506006 UMLS_CUI:C0206652 disease_ontology MERRF syndrome DOID:310 Fukuhara syndrome (disorder) ICD10CM:E88.42 MSH:D017243 Myoclonic epilepsy - ragged red fibers (disorder) Myoclonus epilepsy AND ragged red fibers (disorder) Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) NCI:C84889 OMIM mapping confirmed by DO. [SN]. OMIM:545000 SNOMEDCT_US_2015_03_01:230426003 SNOMEDCT_US_2015_03_01:57254004 SNOMEDCT_US_2015_03_01:68448003 UMLS_CUI:C0162672 disease_ontology MTHICD9_2006:277.87 Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) Myoclonic epilepsy - ragged red fibers (disorder) SNOMEDCT_2005_07_31:230426003 Myoclonus epilepsy AND ragged red fibers (disorder) SNOMEDCT_2005_07_31:68448003 Fukuhara syndrome (disorder) SNOMEDCT_2005_07_31:57254004 Ureaplasma urealyticum urethritis DOID:3100 disease_ontology true primary Mycoplasmatales infectious disease DOID:3101 disease_ontology true cervical rib syndrome Arterial thoracic outlet syndrome due to cervical rib DOID:3102 disease_ontology true Arterial thoracic outlet syndrome due to cervical rib SNOMEDCT_2005_07_31:413577001 thoracic outlet syndrome A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. DOID:3103 ICD10CM:G54.0 MSH:D013901 NCI:C85188 SNOMEDCT_US_2015_03_01:128210009 SNOMEDCT_US_2015_03_01:193106006 SNOMEDCT_US_2015_03_01:193107002 SNOMEDCT_US_2015_03_01:193108007 SNOMEDCT_US_2015_03_01:2040007 SNOMEDCT_US_2015_03_01:212769008 SNOMEDCT_US_2015_03_01:393578000 TOS - Thoracic outlet syndrome UMLS_CUI:C0039984 disease_ontology A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome SNOMEDCT_2005_07_31:212769008 TOS - Thoracic outlet syndrome Nematoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. DOID:3106 DOID:4190 Nematode infection Roundworm Roundworm infection creeping eruption disease_ontology larva migrans true MTHICD9_2006:127.0 Roundworm infection Roundworm SNOMEDCT_2005_07_31:271435007 A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. url:http://en.wikipedia.org/wiki/Nematode url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783 Nematode infection SNOMEDCT_2005_07_31:84706005 CSP2005:2214-2606 creeping eruption toxascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. DOID:3107 MSH:D017227 UMLS_CUI:C0040522 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. url:http://en.wikipedia.org/wiki/Toxascaris_leonina ascaridiasis A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. DOID:3108 ICD10CM:B77 MSH:D001198 SNOMEDCT_US_2015_03_01:2435008 SNOMEDCT_US_2015_03_01:76160002 UMLS_CUI:C0003952 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. url:http://www.ncbi.nlm.nih.gov/pubmed/18367882 idiopathic CD4-positive T-lymphocytopenia A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. DOID:3109 MSH:D018344 NCI:C84780 UMLS_CUI:C0206744 disease_ontology A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia papillary cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. DOID:3110 MSH:D018283 NCI:C3777 Papillary cystadenocarcinoma Papillary cystadenocarcinoma (morphologic abnormality) Papillary cystadenocarcinoma, NOS (morphologic abnormality) SNOMEDCT_US_2015_03_01:189687009 SNOMEDCT_US_2015_03_01:2735009 UMLS_CUI:C0206700 disease_ontology Papillary cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:2735009 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. url:http://www.sciencedirect.com/science/article/pii/S1741940905000841 NCI2004_11_17:C3777 Papillary cystadenocarcinoma Papillary cystadenocarcinoma, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189687009 cystadenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. DOID:3111 MSH:D003536 NCI:C2971 SNOMEDCT_US_2015_03_01:189681005 SNOMEDCT_US_2015_03_01:21008007 UMLS_CUI:C0010631 cystadenocarcinoma (morphologic abnormality) cystadenocarcinoma NOS (morphologic abnormality) disease_ontology An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. url:http://en.wikipedia.org/wiki/Cystadenocarcinoma SNOMEDCT_2005_07_31:189681005 cystadenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:21008007 cystadenocarcinoma (morphologic abnormality) papillary adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. DOID:3112 DOID:5596 Infiltrating and papillary adenocarcinoma MSH:D000231 NCI:C2853 NCI:C7438 Papillary adenocarcinoma Papillary adenocarcinoma (morphologic abnormality) Papillary adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_US_2015_03_01:189621008 SNOMEDCT_US_2015_03_01:4797003 SNOMEDCT_US_2015_03_01:64524002 UMLS_CUI:C0001420 UMLS_CUI:C1321863 disease_ontology infiltrating papillary adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. url:http://en.wikipedia.org/wiki/Papillary_adenocarcinoma Infiltrating and papillary adenocarcinoma SNOMEDCT_2005_07_31:64524002 Papillary adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189621008 Papillary adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4797003 NCI2004_11_17:C2853 Papillary adenocarcinoma papillary carcinoma A carcinoma that is derived_from epithelial cells with finger like projections. DOID:3113 MSH:D002291 NCI:C2927 Papillary carcinoma Papillary carcinoma (morphologic abnormality) Papillary carcinoma NOS (morphologic abnormality) SNOMEDCT_US_2015_03_01:189562005 SNOMEDCT_US_2015_03_01:25910003 UMLS_CUI:C0007133 disease_ontology Papillary carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189562005 NCI2004_11_17:C2927 Papillary carcinoma Papillary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:25910003 A carcinoma that is derived_from epithelial cells with finger like projections. url:http://breastcancer.about.com/od/types/p/papillary_ca.htm serous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. DOID:3114 MSH:D018284 NCI:C3778 NCI:C40101 SNOMEDCT_US_2015_03_01:189685001 SNOMEDCT_US_2015_03_01:90725004 UMLS_CUI:C0206701 disease_ontology serous adenocarcinoma serous carcinoma serous cystadenocarcinoma, NOS (morphologic abnormality) NCI2004_11_17:C40101 serous adenocarcinoma SNOMEDCT_2005_07_31:90725004 serous carcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:http://ukpmc.ac.uk/abstract/MED/16025006 NCI2004_11_17:C3778 serous adenocarcinoma SNOMEDCT_2005_07_31:189685001 serous cystadenocarcinoma, NOS (morphologic abnormality) urinary tract transitional cell cancer DOID:3115 disease_ontology transitional cell neoplasm of the urinary tract true kidney benign neoplasm DOID:3116 NCI:C7514 UMLS_CUI:C1334323 disease_ontology renal and ureteral tumor NCI2004_11_17:C7514 renal and ureteral tumor hepatobiliary benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. DOID:3117 NCI:C8614 UMLS_CUI:C0854196 disease_ontology hepatobiliary tumors NCI2004_11_17:C8614 hepatobiliary tumors A gastrointestinal system benign neoplasm located_in the hepatobiliary system. url:http://en.wikipedia.org/wiki/Hepatobiliary_system hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract. DOID:3118 NCI:C3959 UMLS_CUI:C0267792 disease_ontology liver and biliary tract disease A gastrointestinal system disease that is located_in the liver and/or biliary tract. url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:3119 DOID:4945 DOID:8377 GI tumor ICD10CM:C26.9 ICD9CM:239.0 MSH:D004067 MSH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2015_03_01:126768004 SNOMEDCT_US_2015_03_01:128348002 SNOMEDCT_US_2015_03_01:128415001 SNOMEDCT_US_2015_03_01:189527000 SNOMEDCT_US_2015_03_01:276806006 SNOMEDCT_US_2015_03_01:367543008 SNOMEDCT_US_2015_03_01:428905002 SNOMEDCT_US_2015_03_01:93811007 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 digestive system cancer disease_ontology gastrointestinal tract cancer NCI2004_11_17:C4890 gastrointestinal tract cancer GI tumor NCI2004_11_17:C3052 An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract tenosynovitis of foot and ankle DOID:312 ICD9CM:727.06 UMLS_CUI:C0158331 disease_ontology gallbladder papillomatosis DOID:3120 NCI:C7130 UMLS_CUI:C1333754 disease_ontology gallbladder cancer A biliary tract cancer that is located_in the gallbladder. DOID:3121 DOID:8090 DOID:8157 ICD10CM:C23 ICD9CM:156.0 MSH:D005706 NCI:C3048 NCI:C35676 NCI:C7481 SNOMEDCT_US_2015_03_01:126854002 SNOMEDCT_US_2015_03_01:154472004 SNOMEDCT_US_2015_03_01:187782001 SNOMEDCT_US_2015_03_01:254602009 SNOMEDCT_US_2015_03_01:269550003 SNOMEDCT_US_2015_03_01:363353009 SNOMEDCT_US_2015_03_01:93810008 UMLS_CUI:C0016978 UMLS_CUI:C0153452 UMLS_CUI:C0278806 disease_ontology gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder SNOMEDCT_2005_07_31:254602009 SNOMEDCT_2005_07_31:93810008 malignant tumour of gallbladder NCI2004_11_17:C7481 malignant tumor of the gallbladder A biliary tract cancer that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder MTH:NOCODE gallbladder neoplasm NCI2004_11_17:C35676 localized malignant gallbladder neoplasm SNOMEDCT_2005_07_31:154472004 gallbladder Ca NCI2004_11_17:C3048 tumor of the gallbladder gastric outlet obstruction DOID:3122 MSH:D017219 SNOMEDCT_US_2015_03_01:196759006 SNOMEDCT_US_2015_03_01:244815007 UMLS_CUI:C0162651 disease_ontology gastric outflow obstruction SNOMEDCT_2005_07_31:244815007 gastric outflow obstruction SNOMEDCT_2005_07_31:196759006 gastric outflow obstruction multiple endocrine neoplasia DOID:3125 MEA MEA - Multiple endocrine adenomatosis Multiple endocrine adenomas (morphologic abnormality) Multiple endocrine adenomatosis disease_ontology true CSP2005:2009-6300 MEA MEA - Multiple endocrine adenomatosis SNOMEDCT_2005_07_31:46724008 Multiple endocrine adenomatosis SNOMEDCT_2005_07_31:190566000 Multiple endocrine adenomas (morphologic abnormality) SNOMEDCT_2005_07_31:60549007 proctitis A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. DOID:3127 ICD10CM:K62.89 MSH:D011349 NCI:C38011 Proctitis (disorder) Proctitis NOS Proctitis NOS (disorder) SNOMEDCT_US_2015_03_01:155806004 SNOMEDCT_US_2015_03_01:197229007 SNOMEDCT_US_2015_03_01:266534007 SNOMEDCT_US_2015_03_01:3951002 UMLS_CUI:C0033246 disease_ontology Proctitis (disorder) SNOMEDCT_2005_07_31:3951002 Proctitis NOS (disorder) SNOMEDCT_2005_07_31:197229007 MTHICD9_2006:569.49 Proctitis NOS A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 anus disease DOID:11479 DOID:11993 DOID:3128 MSH:D001004 NCI:C26695 Nontraumatic tear of anus SNOMEDCT_US_2015_03_01:32110003 Solitary anal ulcer (disorder) UMLS_CUI:C0003462 Ulcer of anus (disorder) anal disease anal disorder anal fissure anal fissure and fistula anal ulcer unspecified (disorder) disease_ontology fissure in ano NCI2004_11_17:C26695 anal disorder MTHICD9_2006:565.0 Nontraumatic tear of anus SNOMEDCT_2005_07_31:20928004 Ulcer of anus (disorder) SNOMEDCT_2005_07_31:197225001 anal ulcer unspecified (disorder) CSP2005:1248-3799 ICD9CM_2006:565.0 SNOMEDCT_2005_07_31:155791009 anal fissure SNOMEDCT_2005_07_31:197224002 Solitary anal ulcer (disorder) synovitis and tenosynovitis DOID:313 disease_ontology true porphyria cutanea tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. DOID:3132 ICD10CM:E80.1 MSH:D017119 NCI:C27725 OMIM:176090 OMIM:176100 ORDO:101330 SNOMEDCT_US_2015_03_01:61860000 UMLS_CUI:C0162566 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. url:http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract acute porphyria A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. DOID:3133 MSH:D017094 OMIM:612740 ORDO:100924 SNOMEDCT_US_2015_03_01:55056006 UMLS_CUI:C0162533 Xref MGI. disease_ontology hepatic porphyria (disorder) SNOMEDCT_2005_07_31:55056006 hepatic porphyria (disorder) A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. url:http://emedicine.medscape.com/article/957604-overview url:http://en.wikipedia.org/wiki/Porphyria url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html facial dermatosis DOID:3134 MSH:D005148 UMLS_CUI:C0015456 disease_ontology scalp dermatosis DOID:3136 Dermatosis of scalp (disorder) MSH:D012536 SNOMEDCT_US_2015_03_01:402694007 UMLS_CUI:C0036271 disease_ontology Dermatosis of scalp (disorder) SNOMEDCT_2005_07_31:402694007 multiple symmetrical lipomatosis DOID:3137 MSH:D008069 Multiple symmetrical lipomatosis (disorder) SNOMEDCT_US_2015_03_01:238902007 SNOMEDCT_US_2015_03_01:254832003 UMLS_CUI:C0023804 disease_ontology Multiple symmetrical lipomatosis (disorder) SNOMEDCT_2005_07_31:238902007 acanthosis nigricans AN - Acanthosis nigricans Acanthosis nigricans (disorder) DOID:3138 ICD10CM:L83 Keratosis nigricans MSH:D000052 NCI:C26687 OMIM mapping confirmed by DO. [SN]. OMIM:100600 OMIM:200170 SNOMEDCT_US_2015_03_01:402599005 SNOMEDCT_US_2015_03_01:72129000 UMLS_CUI:C0000889 disease_ontology keratosis nigricans Keratosis nigricans MTHICD9_2006:701.2 CSP2005:2716-6089 keratosis nigricans AN - Acanthosis nigricans SNOMEDCT_2005_07_31:72129000 Acanthosis nigricans (disorder) SNOMEDCT_2005_07_31:402599005 tenosynovial giant cell tumor DOID:314 Giant cell tumor of Tenosynovium Giant cell tumor of tendon sheath ICD9CM:727.02 NCI:C3402 SNOMEDCT_US_2015_03_01:128777004 SNOMEDCT_US_2015_03_01:310605004 SNOMEDCT_US_2015_03_01:71508003 SNOMEDCT_US_2015_03_01:95412009 SNOMEDCT_US_2015_03_01:95413004 UMLS_CUI:C1318543 disease_ontology fibrous histiocytoma of tendon sheath (disorder) Giant cell tumor of Tenosynovium NCI2004_11_17:C3402 SNOMEDCT_2005_07_31:310605004 fibrous histiocytoma of tendon sheath (disorder) Giant cell tumor of tendon sheath ICD9CM_2006:727.02 scleredema adultorum Buschke's scleredema DOID:3140 MSH:D012592 NCI:C85057 SNOMEDCT_US_2015_03_01:72967001 SNOMEDCT_US_2015_03_01:95323007 UMLS_CUI:C0036413 disease_ontology Buschke's scleredema CSP2005:2716-6810 mucinoses DOID:3141 MSH:D017520 SNOMEDCT_US_2015_03_01:11528001 UMLS_CUI:C0162855 disease_ontology leg dermatosis DOID:3142 MSH:D007868 UMLS_CUI:C0023219 disease_ontology eczematous skin disease Contact dermatitis and other eczema Contact dermatitis and other eczema due to animal (cat) (dog) dander Contact dermatitis and other eczema due to detergents Contact dermatitis and other eczema due to drugs and medicines in contact with skin Contact dermatitis and other eczema due to food in contact with skin Contact dermatitis and other eczema due to oils and greases Contact dermatitis and other eczema due to other chemical products Contact dermatitis and other eczema due to other specified agents Contact dermatitis and other eczema due to plants Contact dermatitis and other eczema due to plants [except food] Contact dermatitis and other eczema due to solvents Contact dermatitis and other eczema, unspecified cause Contact dermatitis and other eczemas Contact dermatitis and other eczemas (disorder) Contact dermatitis due to cosmetics Contact dermatitis due to cosmetics (disorder) Contact dermatitis due to metal (disorder) Contact dermatitis due to metals Contact dermatitis due to metals (disorder) Contact dermatitis: metals DOID:3143 DOID:8546 DOID:8547 DOID:8550 DOID:8588 DOID:8589 DOID:8657 DOID:8723 DOID:8804 DOID:8901 DOID:8908 DOID:9014 DOID:9089 DOID:9147 DOID:9236 Dermatitis due to cosmetics Dermatitis due to metals Dermatitis due to other radiation Dermatitis due to other radiation NOS disease_ontology true Contact dermatitis due to metal (disorder) SNOMEDCT_2005_07_31:78634007 Contact dermatitis due to cosmetics (disorder) SNOMEDCT_2005_07_31:78755001 Contact dermatitis and other eczemas (disorder) SNOMEDCT_2005_07_31:267792000 Contact dermatitis and other eczemas SNOMEDCT_2005_07_31:200780008 Contact dermatitis due to metals SNOMEDCT_2005_07_31:200876007 Contact dermatitis: metals SNOMEDCT_2005_07_31:267845007 Contact dermatitis and other eczema due to plants MTHICD9_2006:692.6 Contact dermatitis due to cosmetics SNOMEDCT_2005_07_31:200868005 SNOMEDCT_2005_07_31:267795003 Dermatitis due to other radiation NOS MTHICD9_2006:692.82 Contact dermatitis due to metals (disorder) SNOMEDCT_2005_07_31:267796002 cutis laxa A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. Cutis laxa Cutis laxa (disorder) DOID:3144 ICD10CM:Q82.8 MSH:D003483 NCI:C84663 OMIM:123700 OMIM:219100 OMIM:219150 OMIM:219200 OMIM:612940 OMIM:613177 OMIM:614434 OMIM:614437 OMIM:614438 ORDO:209 SNOMEDCT_US_2015_03_01:238825007 SNOMEDCT_US_2015_03_01:58588007 UMLS_CUI:C0010495 Xref MGI. disease_ontology loose skin Cutis laxa (disorder) SNOMEDCT_2005_07_31:58588007 Cutis laxa SNOMEDCT_2005_07_31:238825007 CSP2005:2716-6258 loose skin A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. url:http://en.wikipedia.org/wiki/Cutis_laxa url:http://ghr.nlm.nih.gov/condition/cutis-laxa url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract hyperlipoproteinemia type III DOID:3145 MSH:D006952 NCI:C34710 Remnant hyperlipidemia SNOMEDCT_US_2015_03_01:398796005 SNOMEDCT_US_2015_03_01:42569002 UMLS_CUI:C0020479 carbohydrate induced hyperlipemia disease_ontology familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:398796005 familial hypercholesterolaemia with hyperlipaemia NCI2004_11_17:C34710 Remnant hyperlipidemia SNOMEDCT_2005_07_31:42569002 familial type 3 hyperlipoproteinemia (disorder) CSP2005:1849-4681 carbohydrate induced hyperlipemia CSP2005:1849-4738 carbohydrate induced hyperlipemia lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. DOID:3146 MSH:D008052 UMLS_CUI:C0023772 disease_ontology dyslipidemia fatty acid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. url:http://en.wikipedia.org/wiki/Lipid_metabolism dermal unilateral segmental cavernous angioma DOID:3148 SNOMEDCT_US_2015_03_01:254783008 UMLS_CUI:C0474966 Unilateral Segmental Cavernous hemangioma of the skin Unilateral segmental cavernous hemangioma (disorder) disease_ontology NCI2004_11_17:C4750 Unilateral Segmental Cavernous hemangioma of the skin SNOMEDCT_2005_07_31:254783008 Unilateral segmental cavernous hemangioma (disorder) keratoacanthoma DOID:3149 MSH:D007636 NCI:C3146 SNOMEDCT_US_2015_03_01:156395005 SNOMEDCT_US_2015_03_01:201061007 SNOMEDCT_US_2015_03_01:201064004 SNOMEDCT_US_2015_03_01:254662007 SNOMEDCT_US_2015_03_01:267858008 SNOMEDCT_US_2015_03_01:58220003 UMLS_CUI:C0022572 disease_ontology synovium neoplasm DOID:315 NCI:C8964 SNOMEDCT_US_2015_03_01:189829008 SNOMEDCT_US_2015_03_01:189831004 Synovial neoplasm (morphologic abnormality) Synovial neoplasm NOS (morphologic abnormality) UMLS_CUI:C0476203 disease_ontology tumor of Synovium SNOMEDCT_2005_07_31:189829008 Synovial neoplasm (morphologic abnormality) NCI2004_11_17:C8964 tumor of Synovium SNOMEDCT_2005_07_31:189831004 Synovial neoplasm NOS (morphologic abnormality) skin squamous cell carcinoma A skin carcinoma that has_material_basis_in squamous cells. DOID:3151 Epidermoid skin carcinoma NCI:C4819 SNOMEDCT_US_2015_03_01:254651007 UMLS_CUI:C0553723 disease_ontology squamous cell carcinoma of skin A skin carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid skin carcinoma NCI2004_11_17:C4819 lipomatosis DOID:3153 ICD10CM:E88.2 Lipomatosis (disorder) Lipomatosis (morphologic abnormality) MSH:D008068 SNOMEDCT_US_2015_03_01:37095002 SNOMEDCT_US_2015_03_01:402693001 UMLS_CUI:C0023801 disease_ontology Lipomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:37095002 Lipomatosis (disorder) SNOMEDCT_2005_07_31:402693001 incontinentia pigmenti achromians Bloch-Siemans syndrome DOID:3156 Hypomelanosis of Ito Hypomelanosis of Ito [Ambiguous] Incontinentia pigmenti achromians syndrome (disorder) Incontinentia pigmenti syndrome (disorder) [Ambiguous] Ito's nevus MSH:D010859 NCI:C7582 SNOMEDCT_US_2015_03_01:218358001 SNOMEDCT_US_2015_03_01:254202001 SNOMEDCT_US_2015_03_01:254816001 SNOMEDCT_US_2015_03_01:367520004 SNOMEDCT_US_2015_03_01:48543002 SNOMEDCT_US_2015_03_01:806001 UMLS_CUI:C0022283 disease_ontology nevus of Ito (disorder) Hypomelanosis of Ito SNOMEDCT_2005_07_31:254202001 Incontinentia pigmenti syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:806001 Bloch-Siemans syndrome SNOMEDCT_2005_07_31:367520004 Incontinentia pigmenti achromians syndrome (disorder) SNOMEDCT_2005_07_31:218358001 SNOMEDCT_2005_07_31:48543002 nevus of Ito (disorder) Hypomelanosis of Ito [Ambiguous] SNOMEDCT_2005_07_31:254816001 Ito's nevus NCI2004_11_17:C7582 congenital melanocytic nevus Congenital Pigmented skin nevus Congenital melanocytic naevus of skin Congenital melanocytic nevus (disorder) Congenital melanocytic nevus (morphologic abnormality) Congenital pigmented melanocytic naevus Congenital pigmented melanocytic naevus of skin DOID:3157 disease_ontology true Congenital melanocytic nevus (morphologic abnormality) SNOMEDCT_2005_07_31:400151006 Congenital melanocytic nevus (disorder) SNOMEDCT_2005_07_31:84953004 Congenital melanocytic naevus of skin SNOMEDCT_2005_07_31:254203006 Congenital pigmented melanocytic naevus of skin SNOMEDCT_2005_07_31:398943008 Congenital Pigmented skin nevus NCI2004_11_17:C3944 Congenital pigmented melanocytic naevus SNOMEDCT_2005_07_31:398696001 hand dermatosis DOID:3158 MSH:D006229 UMLS_CUI:C0018567 disease_ontology photosensitivity disease DOID:3159 MSH:D010787 Photodermatitis Photodermatitis (disorder) SNOMEDCT_US_2015_03_01:22649008 UMLS_CUI:C0031762 disease_ontology Photodermatitis (disorder) SNOMEDCT_2005_07_31:22649008 MTHICD9_2006:692.79 Photodermatitis NCI2004_11_17:C34929 Photodermatitis malignant spindle cell melanoma A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. DOID:3162 NCI:C4237 SNOMEDCT_US_2015_03_01:189756002 SNOMEDCT_US_2015_03_01:403923002 SNOMEDCT_US_2015_03_01:68827007 Spitzoid malignant melanoma UMLS_CUI:C0334444 desmoplastic melanoma disease_ontology spindle cell malignant melanoma spindle cell melanoma spindle cell melanoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:403923002 Spitzoid malignant melanoma NCI2004_11_17:C4237 spindle cell malignant melanoma SNOMEDCT_2005_07_31:68827007 Spitzoid malignant melanoma MTH:NOCODE spindle cell melanoma A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. url:http://www.skincancer.org/ask-the-expert-what-is-spindle-cell-melanoma.html SNOMEDCT_2005_07_31:189756002 spindle cell melanoma NOS (morphologic abnormality) spindle cell cancer A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. DOID:3163 disease_ontology malignant spindle cell tumor malignant tumor, fusiform cell type (morphologic abnormality) true NCI2004_11_17:C27091 malignant spindle cell tumor A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. url:http://www.cancer.gov/dictionary/?CdrID=44506 SNOMEDCT_2005_07_31:88897007 malignant tumor, fusiform cell type (morphologic abnormality) Hair nevus DOID:3164 Hair nevus (disorder) Hairy naevus Hairy naevus NOS Hairy nevus NOS (morphologic abnormality) Nevoid hypertrichosis disease_ontology true Hair nevus (disorder) SNOMEDCT_2005_07_31:201161009 Hairy naevus SNOMEDCT_2005_07_31:21119008 Hairy nevus NOS (morphologic abnormality) SNOMEDCT_2005_07_31:276499003 Hairy naevus NOS SNOMEDCT_2005_07_31:189748000 NCI2004_11_17:C3074 Nevoid hypertrichosis skin benign neoplasm DOID:3165 MSH:D012878 NCI:C3372 SNOMEDCT_US_2015_03_01:126488004 SNOMEDCT_US_2015_03_01:363230005 UMLS_CUI:C0037286 disease_ontology neoplasm of skin (disorder) neoplasm of skin by site skin neoplasm tumor of the skin NCI2004_11_17:C3372 tumor of the skin SNOMEDCT_2005_07_31:363230005 neoplasm of skin by site SNOMEDCT_2005_07_31:126488004 neoplasm of skin (disorder) CSP2005:2020-0536 skin neoplasm leukemoid reaction DOID:3166 ICD10CM:D72.823 ICD9CM:288.62 LEUKEMOID REACTION Leukemoid reaction Leukemoid reaction (disorder) MSH:D007955 NCI:C3185 SNOMEDCT_US_2015_03_01:56478004 UMLS_CUI:C0023501 disease_ontology transient myeloproliferative disorder Leukemoid reaction (disorder) SNOMEDCT_2005_07_31:56478004 LEUKEMOID REACTION MTH:NOCODE Leukemoid reaction MTHICD9_2006:288.8 squamous cell neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. DOID:3168 Epidermoid cell tumor MSH:D018307 NCI:C3792 SNOMEDCT_US_2015_03_01:118286007 SNOMEDCT_US_2015_03_01:134208005 SNOMEDCT_US_2015_03_01:189560002 UMLS_CUI:C0206720 disease_ontology squamous cell tumor (qualifier value) SNOMEDCT_2005_07_31:134208005 squamous cell tumor (qualifier value) Epidermoid cell tumor NCI2004_11_17:C3792 A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma papillary epithelial neoplasm DOID:3169 disease_ontology true respiratory tract papilloma DOID:3171 disease_ontology papilloma of the respiratory tract true NCI2004_11_17:C8295 papilloma of the respiratory tract papillary adenoma DOID:3172 MSH:D000236 NCI:C79951 Papillary adenoma NOS (morphologic abnormality) SNOMEDCT_US_2015_03_01:189620009 SNOMEDCT_US_2015_03_01:86143001 UMLS_CUI:C0205650 disease_ontology glandular papilloma NCI2004_11_17:C6880 glandular papilloma Papillary adenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189620009 SNOMEDCT_2005_07_31:86143001 glandular papilloma fallopian tube serous papilloma DOID:3173 NCI:C40112 UMLS_CUI:C1517123 disease_ontology verrucous papilloma DOID:3177 NCI:C4101 SNOMEDCT_US_2015_03_01:48218007 UMLS_CUI:C0334243 disease_ontology skin papilloma Cutaneous papilloma DOID:3178 NCI:C4614 SNOMEDCT_US_2015_03_01:154613008 SNOMEDCT_US_2015_03_01:189051001 SNOMEDCT_US_2015_03_01:255184001 SNOMEDCT_US_2015_03_01:269639005 UMLS_CUI:C0347390 cutaneous papilloma disease_ontology papilloma of skin papilloma of skin (disorder) skin papilloma NOS SNOMEDCT_2005_07_31:154613008 skin papilloma NOS CSP2005:2020-2747 cutaneous papilloma SNOMEDCT_2005_07_31:255184001 papilloma of skin (disorder) SNOMEDCT_2005_07_31:189051001 papilloma of skin SNOMEDCT_2005_07_31:269639005 skin papilloma NOS Cutaneous papilloma NCI2004_11_17:C4614 inverted papilloma DOID:3179 Inverted papilloma Inverted papilloma, squamous cell MSH:D018308 NCI:C3793 SNOMEDCT_US_2015_03_01:104081000119103 UMLS_CUI:C0206721 disease_ontology Inverted papilloma, squamous cell SNOMEDCT_2005_07_31:90121000 Inverted papilloma NCI2004_11_17:C3793 progressive muscular atrophy DOID:318 ICD10CM:G12.21 ICD9CM:335.21 MSH:D009134 NCI:C85027 Pure progressive muscular atrophy SNOMEDCT_US_2015_03_01:88923002 UMLS_CUI:C0917981 disease_ontology progressive spinal muscular atrophy MTHICD9_2006:335.21 Pure progressive muscular atrophy CSP2005:2057-3620 progressive spinal muscular atrophy oligodendroglioma DOID:3181 DOID:3182 MSH:D009837 NCI:C6960 UMLS_CUI:C0028945 UMLS_CUI:C1335110 disease_ontology oligodendroglial neoplasm oligodendroglial tumor NCI2004_11_17:C6960 oligodendroglial tumor childhood oligodendroglioma DOID:3183 MSH:D009837 NCI:C4045 UMLS_CUI:C0280475 disease_ontology pediatric Oligodendroglioma NCI2004_11_17:C4045 pediatric Oligodendroglioma spinal cord oligodendroglioma DOID:3184 NCI:C4535 Oligodendroglioma of spinal cord (disorder) SNOMEDCT_US_2015_03_01:254950006 UMLS_CUI:C0346295 Well differentiated Spinal Cord Oligodendroglioma disease_ontology NCI2004_11_17:C4535 Well differentiated Spinal Cord Oligodendroglioma Oligodendroglioma of spinal cord (disorder) SNOMEDCT_2005_07_31:254950006 spinal cord glioma A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. DOID:3185 Glial neoplasm Spinal Cord Glial tumor of spinal cord (disorder) NCI2009_04D:C4534 SNOMEDCT_US_2015_03_01:254947008 UMLS_CUI:C0346294 disease_ontology glioma of spinal cord (disorder) Glial tumor of spinal cord (disorder) SNOMEDCT_2005_07_31:254946004 A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 Glial neoplasm Spinal Cord NCI2004_11_17:C4534 SNOMEDCT_2005_07_31:254947008 glioma of spinal cord (disorder) adult oligodendroglioma DOID:3186 DOID:7355 MSH:D009837 NCI:C4014 NCI:C9376 UMLS_CUI:C0279070 UMLS_CUI:C1332190 adult brain oligodendroglioma disease_ontology grade II adult Oligodendroglial tumor NCI2004_11_17:C4014 grade II adult Oligodendroglial tumor brain oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. DOID:3187 NCI:C9377 Oligodendroglioma of brain (disorder) SNOMEDCT_US_2015_03_01:254940005 UMLS_CUI:C0346286 brain Oligodendroglioma disease_ontology Oligodendroglioma of brain (disorder) SNOMEDCT_2005_07_31:254940005 NCI2004_11_17:C9377 brain Oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. url:http://www.cancer.gov/dictionary?CdrID=46257 spinal cord disease DOID:319 ICD10CM:G95.9 ICD9CM:336.9 MSH:D013118 NCI:C97110 SNOMEDCT_US_2015_03_01:155020007 SNOMEDCT_US_2015_03_01:192908002 SNOMEDCT_US_2015_03_01:192913003 SNOMEDCT_US_2015_03_01:267587000 SNOMEDCT_US_2015_03_01:267695005 SNOMEDCT_US_2015_03_01:48522003 SNOMEDCT_US_2015_03_01:95648003 UMLS_CUI:C0037928 disease_ontology myelopathy nemaline myopathy A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. DOID:3191 ICD10CM:G71.2 MSH:D017696 Nemaline body disease OMIM:161800 OMIM:256030 OMIM:605355 OMIM:609273 OMIM:609284 OMIM:609285 OMIM:610687 OMIM:615348 OMIM:615731 OMIM:616165 ORDO:607 SNOMEDCT_US_2015_03_01:75072002 UMLS_CUI:C0206157 Xref MGI. disease_ontology nemaline rod myopathy rod myopathy MTHICD9_2006:359.0 Nemaline body disease A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. url:http://en.wikipedia.org/wiki/Nemaline_myopathy url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract neurilemmoma DOID:3192 MSH:D009442 NCI:C3269 Neurilemmoma (disorder) Psammomatous schwannoma SNOMEDCT_US_2015_03_01:189948006 SNOMEDCT_US_2015_03_01:404022001 SNOMEDCT_US_2015_03_01:985004 Schwannoma UMLS_CUI:C0027809 disease_ontology schwannoma CSP2005:2012-6947 schwannoma Psammomatous schwannoma SNOMEDCT_2005_07_31:985004 SNOMEDCT_2005_07_31:189948006 Schwannoma Neurilemmoma (disorder) SNOMEDCT_2005_07_31:404022001 NCI2004_11_17:C3269 schwannoma peripheral nerve sheath neoplasm A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. DOID:3193 MSH:D018317 UMLS_CUI:C0751689 disease_ontology neoplasm of the nerve Sheath nerve sheath tumour NCI2004_11_17:C4972 neoplasm of the nerve Sheath SNOMEDCT_2005_07_31:189946005 nerve sheath tumour A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. url:http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor cellular schwannoma A neurilemmoma with a predominantly cellular growth but no Verocay bodies. DOID:3196 NCI:C4724 SNOMEDCT_US_2015_03_01:253086004 SNOMEDCT_US_2015_03_01:404026003 SNOMEDCT_US_2015_03_01:985004 UMLS_CUI:C0431124 cellular Neurinoma disease_ontology A neurilemmoma with a predominantly cellular growth but no Verocay bodies. url:http://www.ncbi.nlm.nih.gov/pubmed/2400975 NCI2004_11_17:C4724 cellular Neurinoma schwannoma of twelfth cranial nerve DOID:3197 Hypoglossal Schwannoma NCI:C5434 UMLS_CUI:C1335928 disease_ontology Hypoglossal Schwannoma NCI2004_11_17:C5434 hypoglossal nerve neoplasm DOID:3198 NCI:C5830 SNOMEDCT_US_2015_03_01:126978008 UMLS_CUI:C1263903 disease_ontology neoplasm of hypoglossal nerve (disorder) tumor of Hypoglossal nerve SNOMEDCT_2005_07_31:126978008 neoplasm of hypoglossal nerve (disorder) NCI2004_11_17:C5830 tumor of Hypoglossal nerve C-P angle neurinoma Cerebellopontine Angle Neurinoma DOID:3199 NCI:C5413 UMLS_CUI:C1332905 disease_ontology Cerebellopontine Angle Neurinoma NCI2004_11_17:C5413 vascular myelopathy DOID:320 ICD10CM:G95.1 ICD9CM:336.1 SNOMEDCT_US_2015_03_01:155018009 SNOMEDCT_US_2015_03_01:192896006 SNOMEDCT_US_2015_03_01:192903006 SNOMEDCT_US_2015_03_01:29774004 UMLS_CUI:C0154685 disease_ontology vascular myelopathies vascular myelopathies (disorder) vascular myelopathy (disorder) vascular myelopathy NOS (disorder) SNOMEDCT_2005_07_31:29774004 vascular myelopathy (disorder) SNOMEDCT_2005_07_31:192896006 vascular myelopathies (disorder) ICD9CM_2006:336.1 vascular myelopathies SNOMEDCT_2005_07_31:155018009 vascular myelopathies SNOMEDCT_2005_07_31:192903006 vascular myelopathy NOS (disorder) cerebellopontine angle tumor Cerebellopontine angle tumor (disorder) DOID:3200 NCI2009_04D:C5414 disease_ontology neoplasm of the Cerebellopontine Angle Cerebellopontine angle tumor (disorder) SNOMEDCT_2005_07_31:126947009 NCI2004_11_17:C5414 neoplasm of the Cerebellopontine Angle sympathetic neurilemmoma DOID:3201 NCI:C5421 UMLS_CUI:C1336543 disease_ontology neurilemmoma of the fifth cranial nerve DOID:3202 NCI:C4655 SNOMEDCT_US_2015_03_01:277185000 Trigeminal Neurilemmoma Trigeminal schwannoma (disorder) UMLS_CUI:C0349582 disease_ontology SNOMEDCT_2005_07_31:277185000 Trigeminal schwannoma (disorder) NCI2004_11_17:C4655 Trigeminal Neurilemmoma macrocystic neurilemmoma DOID:3203 NCI:C5321 UMLS_CUI:C1334540 disease_ontology neurilemmomatosis DOID:3204 ICD10CM:Q85.03 ICD9CM:237.73 MSH:C536641 NCI:C6557 OMIM:162091 OMIM:615670 Schwannomatosis UMLS_CUI:C1335929 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology melanotic neurilemmoma DOID:3205 Melanotic Schwannoma (morphologic abnormality) Melanotic neurilemmoma (disorder) NCI:C6970 Pigmented Neurilemmoma Pigmented schwannoma SNOMEDCT_US_2015_03_01:253088003 SNOMEDCT_US_2015_03_01:404024000 SNOMEDCT_US_2015_03_01:985004 UMLS_CUI:C1306247 disease_ontology Melanotic neurilemmoma (disorder) SNOMEDCT_2005_07_31:404024000 NCI2004_11_17:C6970 Pigmented Neurilemmoma Melanotic Schwannoma (morphologic abnormality) SNOMEDCT_2005_07_31:253088003 Pigmented schwannoma SNOMEDCT_2005_07_31:985004 plexiform schwannoma DOID:3206 NCI:C6969 Plexiform Neurinoma Plexiform Schwannoma (morphologic abnormality) Plexiform neurilemmoma Plexiform schwannoma SNOMEDCT_US_2015_03_01:253087008 SNOMEDCT_US_2015_03_01:404025004 SNOMEDCT_US_2015_03_01:985004 UMLS_CUI:C1370659 disease_ontology NCI2004_11_17:C6969 Plexiform Neurinoma Plexiform schwannoma SNOMEDCT_2005_07_31:985004 Plexiform Schwannoma (morphologic abnormality) SNOMEDCT_2005_07_31:253087008 Plexiform neurilemmoma SNOMEDCT_2005_07_31:404025004 sensation disorder DOID:3208 disease_ontology true junctional epidermolysis bullosa Congenital junctional epidermolysis bullosa (disorder) DOID:3209 MSH:D016109 NCI:C90598 SNOMEDCT_US_2015_03_01:33662006 SNOMEDCT_US_2015_03_01:399971009 SNOMEDCT_US_2015_03_01:76905008 SNOMEDCT_US_2015_03_01:79855003 UMLS_CUI:C0079301 Xref MGI. disease_ontology Congenital junctional epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:79855003 tropical spastic paraparesis A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. DOID:321 HTLV-associated myelopathy ICD10CM:G04.1 MSH:D015493 OMIM mapping confirmed by DO. [LS]. OMIM:159580 SNOMEDCT_US_2015_03_01:192733005 SNOMEDCT_US_2015_03_01:45129002 Tropical spastic paralysis Tropical spastic paraplegia UMLS_CUI:C0030481 disease_ontology SNOMEDCT_2005_07_31:192733005 Tropical spastic paraplegia A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis url:http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html SNOMEDCT_2005_07_31:45129002 Tropical spastic paralysis Pelizaeus-Merzbacher disease DOID:3210 Leukodystrophy, sudanophilic MSH:D020371 OMIM mapping confirmed by DO. [SN]. OMIM:312080 Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher disease (disorder) SNOMEDCT_US_2015_03_01:64855000 UMLS_CUI:C0205711 disease_ontology CSP2005:1849-5479 Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher disease (disorder) SNOMEDCT_2005_07_31:64855000 Leukodystrophy, sudanophilic MTHICD9_2006:330.0 lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. DOID:3211 MSH:D016464 NCI:C61250 SNOMEDCT_US_2015_03_01:23585005 UMLS_CUI:C0085078 disease_ontology disorder of lysosomal enzyme (disorder) inborn lysosomal enzyme disorder lysosomal storage metabolism disorder SNOMEDCT_2005_07_31:23585005 disorder of lysosomal enzyme (disorder) CSP2005:1849-5878 inborn lysosomal enzyme disorder An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease hereditary central nervous system demyelinating disease DOID:3212 disease_ontology true demyelinating disease DOID:3213 MSH:D003711 NCI:C34527 UMLS_CUI:C0011303 demyelinating disorder disease_ontology NCI2004_11_17:C34527 demyelinating disorder infectious bovine rhinotracheitis A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. DOID:3215 Infectious bovine rhinotracheitis (disorder) disease_ontology true A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf url:http://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr Infectious bovine rhinotracheitis (disorder) SNOMEDCT_2005_07_31:68686002 jejunal somatostatinoma DOID:3216 NCI:C5787 Somatosatinoma of Jejunum UMLS_CUI:C1334297 disease_ontology jejunal delta cell somatostatin producing tumor NCI2004_11_17:C5787 Somatosatinoma of Jejunum small intestinal delta cell somatostatin producing tumor DOID:3217 disease_ontology true jejunal neoplasm DOID:3218 Jejunal tumor MSH:D007580 NCI:C8401 SNOMEDCT_US_2015_03_01:126834003 SNOMEDCT_US_2015_03_01:254575004 UMLS_CUI:C0022374 disease_ontology neoplasm of jejunum tumor of jejunum (disorder) Jejunal tumor NCI2004_11_17:C8401 SNOMEDCT_2005_07_31:126834003 neoplasm of jejunum SNOMEDCT_2005_07_31:254575004 tumor of jejunum (disorder) myelitis DOID:322 MSH:D009187 NCI:C26832 SNOMEDCT_US_2015_03_01:192682002 SNOMEDCT_US_2015_03_01:267682000 SNOMEDCT_US_2015_03_01:41370002 UMLS_CUI:C0026975 disease_ontology causalgia Causalgia (disorder) Causalgia NOS Complex regional pain syndrome, type II (disorder) DOID:3222 MSH:D002422 SNOMEDCT_US_2015_03_01:155074001 SNOMEDCT_US_2015_03_01:247397004 SNOMEDCT_US_2015_03_01:267705008 SNOMEDCT_US_2015_03_01:408751001 SNOMEDCT_US_2015_03_01:66056001 UMLS_CUI:C0007462 disease_ontology Complex regional pain syndrome, type II (disorder) SNOMEDCT_2005_07_31:408751001 Causalgia NOS MTHICD9_2006:355.9 Causalgia (disorder) SNOMEDCT_2005_07_31:66056001 complex regional pain syndrome Complex regional pain syndromes (disorder) DOID:3223 MSH:D020918 SNOMEDCT_US_2015_03_01:128200000 UMLS_CUI:C0458219 disease_ontology Complex regional pain syndromes (disorder) SNOMEDCT_2005_07_31:128200000 tracheal disease DOID:3225 ICD10CM:S12.8 MSH:D014133 NCI:C35079 SNOMEDCT_US_2015_03_01:47125007 Tracheal disorder UMLS_CUI:C0040580 disease_ontology disorder of trachea SNOMEDCT_2005_07_31:47125007 disorder of trachea NCI2004_11_17:C35079 Tracheal disorder tracheal stenosis DOID:3227 MSH:D014135 NCI:C78646 SNOMEDCT_US_2015_03_01:11296007 Stenosis of trachea (disorder) UMLS_CUI:C0040583 disease_ontology SNOMEDCT_2005_07_31:11296007 Stenosis of trachea (disorder) gastric dilatation DOID:3229 MSH:D013271 UMLS_CUI:C0038353 disease_ontology stomach dilatation CSP2005:1248-7212 stomach dilatation Human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. DOID:2931 DOID:323 HTLV-1 infectious disease HTLV-I infectious disease disease_ontology true A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. url:http://emedicine.medscape.com/article/219285-overview high pressure neurological syndrome DOID:3230 MSH:D006610 UMLS_CUI:C0019537 disease_ontology occupational disease DOID:3231 disease_ontology occupational disorder true CSP2005:2119-9553 occupational disorder central nervous system lymphoma A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. DOID:3233 DOID:3234 ICD9CM:200.5 Microglioma (disorder) NCI:C9301 SNOMEDCT_US_2015_03_01:190006007 SNOMEDCT_US_2015_03_01:21964009 SNOMEDCT_US_2015_03_01:307649006 SNOMEDCT_US_2015_03_01:69110006 UMLS_CUI:C0280803 UMLS_CUI:C0742472 disease_ontology primary CNS lymphoma Microglioma (disorder) SNOMEDCT_2005_07_31:307649006 A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. url:http://www.braintumor.org/CNSLymphoma/ pigmented spindle cell nevus DOID:2416 DOID:3239 disease_ontology spindle cell nevus spindle cell nevus (disorder) spindle cell nevus (morphologic abnormality) spindle cell nevus of Reed true SNOMEDCT_2005_07_31:810003 spindle cell nevus (morphologic abnormality) SNOMEDCT_2005_07_31:253038006 spindle cell nevus (disorder) aspiration pneumonitis A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. Chemical pneumonitis DOID:13016 DOID:13506 DOID:3240 ICD10CM:J69.0 MSH:D011015 Mendelson's Syndrome SNOMEDCT_US_2015_03_01:422588002 SNOMEDCT_US_2015_03_01:47839005 UMLS_CUI:C0032290 disease_ontology pneumonitis due to inhalation of food or vomitus pneumonitis due to solids and liquids A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. url:http://scalpel.stanford.edu/articles/aspiration--NEJM.pdf url:http://www.merck.com/mmpe/sec05/ch052/ch052f.html lipid pneumonia An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. DOID:13015 DOID:3241 Exogenous lipoid pneumonia ICD10CM:J69.1 Lipoid pneumonitis (disorder) MSH:D011017 Pneumonitis due to inhalation of oils (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:196038008 SNOMEDCT_US_2015_03_01:37629004 SNOMEDCT_US_2015_03_01:416916004 SNOMEDCT_US_2015_03_01:707449006 UMLS_CUI:C0032298 disease_ontology pneumonitis due to inhalation of oils and essences Pneumonitis due to inhalation of oils (disorder) [Ambiguous] SNOMEDCT_2005_07_31:37629004 Exogenous lipoid pneumonia MTHICD9_2006:507.1 An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. url:http://en.wikipedia.org/wiki/Lipid_pneumonia url:http://www.ima.org.il/imaj/ar06jan-8.pdf Lipoid pneumonitis (disorder) SNOMEDCT_2005_07_31:196038008 Lipoid pneumonitis (disorder) SNOMEDCT_2005_07_31:416916004 embryonal rhabdomyosarcoma A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. DOID:3246 MSH:D018233 NCI:C8971 OMIM:268210 ORDO:99757 SNOMEDCT_US_2015_03_01:14269005 SNOMEDCT_US_2015_03_01:404051002 UMLS_CUI:C0206656 Xref MGI. disease_ontology A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors. DOID:3247 MSH:D012208 NCI:C3359 SNOMEDCT_US_2015_03_01:134166003 SNOMEDCT_US_2015_03_01:302847003 SNOMEDCT_US_2015_03_01:30924005 UMLS_CUI:C0035412 disease_ontology A skeletal muscle cancer that arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma pleomorphic rhabdomyosarcoma DOID:3250 NCI:C4258 Pleomorphic rhabdomyosarcoma (disorder) Pleomorphic rhabdomyosarcoma, adult type SNOMEDCT_US_2015_03_01:404054005 SNOMEDCT_US_2015_03_01:77455004 UMLS_CUI:C0334480 anaplastic Rhabdomyosarcoma disease_ontology Pleomorphic rhabdomyosarcoma, adult type SNOMEDCT_2005_07_31:77455004 Pleomorphic rhabdomyosarcoma (disorder) SNOMEDCT_2005_07_31:404054005 NCI2004_11_17:C4258 anaplastic Rhabdomyosarcoma prostate embryonal rhabdomyosarcoma A prostate rhabdomyosarcoma that is most common in children. DOID:3251 Embryonal Rhabdomyosarcoma of the prostate NCI:C5525 UMLS_CUI:C1335508 disease_ontology A prostate rhabdomyosarcoma that is most common in children. url:http://www.google.com/search?hl=en&client=firefox-a&hs=SMK&rls=org.mozilla%3Aen-US%3Aofficial&q=rhabdomyosarcoma+of+prostate&aq=f&aqi=&aql=&oq=&gs_rfai= Embryonal Rhabdomyosarcoma of the prostate NCI2004_11_17:C5525 prostate rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. DOID:3252 NCI:C5522 Rhabdomyosarcoma of the prostate UMLS_CUI:C1335518 disease_ontology NCI2004_11_17:C5522 Rhabdomyosarcoma of the prostate A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. url:http://emedicine.medscape.com/article/988803-overview embryonal extrahepatic bile duct rhabdomyosarcoma DOID:3253 Embryonal extrahepatic bile duct Rhabdomyosarcoma NCI:C5847 UMLS_CUI:C1333505 disease_ontology Embryonal extrahepatic bile duct Rhabdomyosarcoma NCI2004_11_17:C5847 bile duct rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. DOID:3254 NCI:C5860 UMLS_CUI:C2064434 disease_ontology rhabdomyosarcoma of the bile duct A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma NCI2004_11_17:C5860 rhabdomyosarcoma of the bile duct botryoid rhabdomyosarcoma Botryoid sarcoma (morphologic abnormality) Botryoid-type Embryonal Rhabdomyosarcoma DOID:3255 NCI:C9150 SNOMEDCT_US_2015_03_01:14269005 SNOMEDCT_US_2015_03_01:404052009 SNOMEDCT_US_2015_03_01:405943005 UMLS_CUI:C1306573 disease_ontology sarcoma botryoides SNOMEDCT_2005_07_31:404052009 sarcoma botryoides Botryoid sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:405943005 Botryoid-type Embryonal Rhabdomyosarcoma NCI2004_11_17:C9150 SNOMEDCT_2005_07_31:14269005 sarcoma botryoides embryonal childhood rhabdomyosarcoma DOID:3256 disease_ontology pediatric Embryonal Rhabdomyosarcoma true NCI2004_11_17:C7957 pediatric Embryonal Rhabdomyosarcoma pediatric rhabdomyosarcoma DOID:3257 disease_ontology true orbit embryonal rhabdomyosarcoma DOID:3258 Embryonal Rhabdomyosarcoma of the orbit NCI:C6246 UMLS_CUI:C1335127 disease_ontology Embryonal Rhabdomyosarcoma of the orbit NCI2004_11_17:C6246 orbit rhabdomyosarcoma DOID:3259 MSH:C537605 NCI:C4543 Rhabdomyosarcoma of orbit (disorder) Rhabdomyosarcoma of the orbit SNOMEDCT_US_2015_03_01:254994000 UMLS_CUI:C0346347 disease_ontology NCI2004_11_17:C4543 Rhabdomyosarcoma of the orbit Rhabdomyosarcoma of orbit (disorder) SNOMEDCT_2005_07_31:254994000 ischemia A vascular disease that is characterized by a restriction in blood supply to tissues. DOID:326 MSH:D007511 NCI:C34738 SNOMEDCT_US_2015_03_01:52674009 UMLS_CUI:C0022116 disease_ontology A vascular disease that is characterized by a restriction in blood supply to tissues. url:http://en.wikipedia.org/wiki/Ischemia spindle cell rhabdomyosarcoma DOID:3260 NCI:C6519 SNOMEDCT_US_2015_03_01:128749008 SNOMEDCT_US_2015_03_01:404055006 UMLS_CUI:C1266134 disease_ontology spindle cell rhabdomyosarcoma (disorder) spindle cell rhabdomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128749008 spindle cell rhabdomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:404055006 spindle cell rhabdomyosarcoma (disorder) Job's syndrome DOID:3261 ICD10CM:D82.4 Job syndrome MSH:D007589 NCI:C3144 OMIM mapping confirmed by DO. [SN]. OMIM:147060 SNOMEDCT_US_2015_03_01:191009009 SNOMEDCT_US_2015_03_01:191351005 SNOMEDCT_US_2015_03_01:41541007 SNOMEDCT_US_2015_03_01:50926003 UMLS_CUI:C1968689 UMLS_CUI:C2936739 disease_ontology hyperimmunoglobulin E syndrome SNOMEDCT_2005_07_31:191009009 hyperimmunoglobulin E syndrome phagocyte bactericidal dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. DOID:3262 MSH:D010585 UMLS_CUI:C0031306 disease_ontology phagocytic dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. url:http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction CSP2005:0427-7579 phagocytic dysfunction piebaldism DOID:3263 ICD10CM:E70.39 MSH:D016116 NCI:C85009 OMIM mapping confirmed by DO. [SN]. OMIM:172800 PIEBALD TRAIT Partial albinism (disorder) SNOMEDCT_US_2015_03_01:6479008 UMLS_CUI:C0080024 disease_ontology Partial albinism (disorder) SNOMEDCT_2005_07_31:6479008 subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. DOID:3264 ICD9CM:208.2 SNOMEDCT_US_2015_03_01:154601003 SNOMEDCT_US_2015_03_01:188765000 SNOMEDCT_US_2015_03_01:190026006 SNOMEDCT_US_2015_03_01:302855005 SNOMEDCT_US_2015_03_01:49432002 SNOMEDCT_US_2015_03_01:95272003 UMLS_CUI:C0153924 disease_ontology A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. url:http://www.wrongdiagnosis.com/medical/subacute.htm chronic granulomatous disease A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. Bridges-Good syndrome CGD Congenital dysphagocytosis DOID:3265 ICD10CM:D71 MSH:D006105 NCI:C26788 OMIM:138990 OMIM:233690 OMIM:233700 OMIM:233710 OMIM:306400 OMIM:613960 ORDO:379 Quie syndrome SNOMEDCT_US_2015_03_01:11210002 SNOMEDCT_US_2015_03_01:191352003 SNOMEDCT_US_2015_03_01:191354002 SNOMEDCT_US_2015_03_01:387759001 UMLS_CUI:C0018203 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology CGD NCI2004_11_17:C26788 A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. url:http://en.wikipedia.org/wiki/Chronic_granulomatous_disease url:http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstractare-diseases/byID/682/viewAbstract Congenital dysphagocytosis MTHICD9_2006:288.1 mucinous ovarian cystadenoma DOID:3267 NCI:C4512 Ovarian mucinous Cystadenoma SNOMEDCT_US_2015_03_01:119422004 UMLS_CUI:C0346172 disease_ontology mucinous cystadenoma of ovary (disorder) NCI2004_11_17:C4512 Ovarian mucinous Cystadenoma SNOMEDCT_2005_07_31:119422004 mucinous cystadenoma of ovary (disorder) ovarian cystadenoma Cystoma Serosum simplex DOID:3269 NCI:C4060 SNOMEDCT_US_2015_03_01:198297004 UMLS_CUI:C0346169 disease_ontology simple cystoma of ovary simple cystoma of the ovary (disorder) Cystoma Serosum simplex NCI2004_11_17:C4060 SNOMEDCT_2005_07_31:198297004 simple cystoma of the ovary (disorder) MTHICD9_2006:620.2 simple cystoma of ovary syringomyelia DOID:327 MSH:D013595 NCI:C85179 SNOMEDCT_US_2015_03_01:111496009 SNOMEDCT_US_2015_03_01:155020007 SNOMEDCT_US_2015_03_01:267695005 UMLS_CUI:C0039144 disease_ontology proliferative type fibrocystic change of breast DOID:3274 DOID:8101 DOID:8112 Fibrocystic change, proliferative type with atypia (morphologic abnormality) Fibrocystic disease, Proliferative type with Atypia NCI:C8365 Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change SNOMEDCT_US_2015_03_01:35813005 UMLS_CUI:C0334056 disease_ontology Fibrocystic change, proliferative type with atypia (morphologic abnormality) SNOMEDCT_2005_07_31:35813005 NCI2004_11_17:C5204 Proliferating Lesion of the breast without Atypia NCI2004_11_17:C6940 Proliferative Fibrocystic Change thymoma A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. DOID:3275 MSH:D013945 NCI:C3411 SNOMEDCT_US_2015_03_01:128856005 SNOMEDCT_US_2015_03_01:189721001 SNOMEDCT_US_2015_03_01:444231005 UMLS_CUI:C0040100 disease_ontology A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. url:http://cancergenome.nih.gov/cancersselected/Thymoma url:http://en.wikipedia.org/wiki/Thymoma url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 thymus epithelial cancer DOID:3276 Thymic Epithelium neoplasm Thymic epithelial neoplasm (morphologic abnormality) disease_ontology epithelial neoplasm of thymus true NCI2004_11_17:C6450 Thymic Epithelium neoplasm SNOMEDCT_2005_07_31:128621008 Thymic epithelial neoplasm (morphologic abnormality) thymus cancer An immune system cancer located_in the thymus. DOID:10143 DOID:3277 ICD10CM:C37 ICD9CM:164.0 MSH:D013953 NCI:C4962 SNOMEDCT_US_2015_03_01:363434003 SNOMEDCT_US_2015_03_01:94096009 Thymic tumor UMLS_CUI:C0751552 disease_ontology neoplasm of thymus (disorder) thymic neoplasm CSP2005:2004-8826 thymic neoplasm NCI2004_11_17:C3412 Thymic tumor An immune system cancer located_in the thymus. url:http://en.wikipedia.org/wiki/Thymus SNOMEDCT_2005_07_31:127231009 neoplasm of thymus (disorder) encapsulated thymoma DOID:3278 NCI:C7386 UMLS_CUI:C1333383 disease_ontology spindle cell thymoma DOID:3279 Medullary Thymoma NCI:C6454 SNOMEDCT_US_2015_03_01:128707003 Thymoma, medullary UMLS_CUI:C1266091 disease_ontology Medullary Thymoma NCI2004_11_17:C6454 SNOMEDCT_2005_07_31:128707003 Thymoma, medullary mixed type thymoma DOID:3280 NCI:C6885 SNOMEDCT_US_2015_03_01:128709000 Thymoma, mixed type UMLS_CUI:C1266092 disease_ontology SNOMEDCT_2005_07_31:128709000 Thymoma, mixed type combined thymoma DOID:3281 disease_ontology dendritic cell thymoma DOID:3282 NCI:C7114 UMLS_CUI:C1328042 disease_ontology epithelioid Thymoma NCI2004_11_17:C7114 epithelioid Thymoma invasive malignant thymoma DOID:3283 Infiltrating Thymoma NCI:C6453 NCI:C7904 Thymoma malignant Invasive UMLS_CUI:C0278846 disease_ontology NCI2004_11_17:C7904 Thymoma malignant Invasive Infiltrating Thymoma NCI2004_11_17:C6453 thymic carcinoma A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. DOID:3284 MSH:D013945 NCI:C7612 SNOMEDCT_US_2015_03_01:128717008 SNOMEDCT_US_2015_03_01:15949004 SNOMEDCT_US_2015_03_01:444596001 Thymic carcinoma Thymoma, malignant (morphologic abnormality) UMLS_CUI:C0205969 disease_ontology malignant Thymoma A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 SNOMEDCT_2005_07_31:15949004 Thymoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:128717008 Thymic carcinoma NCI2004_11_17:C7612 malignant Thymoma monkeypox A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. DOID:3292 ICD10CM:B04 ICD9CM:059.01 MSH:D045908 SNOMEDCT_US_2015_03_01:186582008 SNOMEDCT_US_2015_03_01:240466002 SNOMEDCT_US_2015_03_01:25157001 SNOMEDCT_US_2015_03_01:359811007 SNOMEDCT_US_2015_03_01:359814004 UMLS_CUI:C0276180 disease_ontology A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. url:http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm lumpy skin disease A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. DOID:3293 disease_ontology true A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf fowlpox A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. DOID:3295 disease_ontology true A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf infectious ectromelia A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. DOID:3296 Mousepox (disorder) disease_ontology true Mousepox (disorder) SNOMEDCT_2005_07_31:73233006 A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. url:http://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg url:http://www.virologyj.com/content/6/1/151 infectious myxomatosis A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. DOID:3297 disease_ontology true A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. url:http://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false vaccinia A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. DOID:3298 MSH:D014615 SNOMEDCT_US_2015_03_01:111852003 UMLS_CUI:C0042214 disease_ontology A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. url:http://en.wikipedia.org/wiki/Vaccinia url:http://www.bt.cdc.gov/agent/smallpox/vaccination/live-virus.asp Yersinia pseudotuberculosis infectious disease DOID:3299 Pasteurella pseudotuberculosis infection Pseudotuberculosis Pseudotuberculosis (disorder) disease_ontology true Pseudotuberculosis (disorder) SNOMEDCT_2005_07_31:36753006 Pseudotuberculosis SNOMEDCT_2005_07_31:186328008 MTHICD9_2006:027.2 Pasteurella pseudotuberculosis infection Yersinia infectious disease DOID:3300 Yersiniosis (disorder) Yersiniosis [Ambiguous] disease_ontology true SNOMEDCT_2005_07_31:240359002 Yersiniosis [Ambiguous] SNOMEDCT_2005_07_31:83436008 Yersiniosis (disorder) gonadoblastoma A cell type benign neoplasm that is composed_of a mixture of gonadal elements. DOID:3301 MSH:D018238 NCI:C3754 OMIM mapping confirmed by DO. [SN]. OMIM:424500 SNOMEDCT_US_2015_03_01:74751003 UMLS_CUI:C0206661 disease_ontology A cell type benign neoplasm that is composed_of a mixture of gonadal elements. url:http://en.wikipedia.org/wiki/Gonadoblastoma chordoma A notochordal cancer that derives_from cellular remnants of the notochord. DOID:3302 MSH:D002817 NCI:C2947 OMIM mapping confirmed by DO. [SN]. OMIM:215400 SNOMEDCT_US_2015_03_01:50007008 UMLS_CUI:C0008487 disease_ontology notochordoma CSP2005:2000-4323 notochordoma A notochordal cancer that derives_from cellular remnants of the notochord. url:http://en.wikipedia.org/wiki/Chordoma notochordal cancer An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. DOID:3303 NCI:C7063 UMLS_CUI:C1335069 disease_ontology notochordal tumor An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. url:http://en.wikipedia.org/wiki/Notochord germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. DOID:3304 MSH:D018237 NCI:C3753 SNOMEDCT_US_2015_03_01:154603000 SNOMEDCT_US_2015_03_01:28307001 UMLS_CUI:C0206660 disease_ontology A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. url:http://en.wikipedia.org/wiki/Germinoma teratocarcinoma A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. DOID:3305 MSH:D018243 NCI:C3756 SNOMEDCT_US_2015_03_01:67830002 Teratocarcinoma (morphologic abnormality) UMLS_CUI:C0206664 disease_ontology mixed Embryonal carcinoma and teratoma SNOMEDCT_2005_07_31:67830002 Teratocarcinoma (morphologic abnormality) A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed NCI2004_11_17:C3756 mixed Embryonal carcinoma and teratoma mixed germ cell cancer A germ cell cancer that occurs in many forms. DOID:3306 NCI:C4290 NCI:C9010 SNOMEDCT_US_2015_03_01:189853002 SNOMEDCT_US_2015_03_01:32844007 UMLS_CUI:C0334524 disease_ontology mixed germ cell neoplasm mixed germ cell tumour mixed teratoma and Seminoma mixed teratoma and seminoma NCI2004_11_17:C4290 mixed germ cell neoplasm NCI2004_11_17:C9010 mixed teratoma and Seminoma SNOMEDCT_2005_07_31:189853002 mixed germ cell tumour SNOMEDCT_2005_07_31:32844007 mixed teratoma and seminoma A germ cell cancer that occurs in many forms. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed teratoma A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. DOID:3307 MSH:D013724 NCI:C3403 SNOMEDCT_US_2015_03_01:189844009 SNOMEDCT_US_2015_03_01:189846006 SNOMEDCT_US_2015_03_01:189848007 SNOMEDCT_US_2015_03_01:55818009 Teratomas (morphologic abnormality) UMLS_CUI:C0039538 disease_ontology A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. url:http://en.wikipedia.org/wiki/Teratoma SNOMEDCT_2005_07_31:189844009 Teratomas (morphologic abnormality) embryonal carcinoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. DOID:3308 DOID:5676 MSH:D018236 NCI:C3752 NCI:C8880 SNOMEDCT_US_2015_03_01:189843003 SNOMEDCT_US_2015_03_01:28047004 UMLS_CUI:C0206659 UMLS_CUI:C0855159 disease_ontology primary extragonadal embryonal carcinoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma neurodermatitis DOID:3309 MSH:D009450 NCI:C111963 SNOMEDCT_US_2015_03_01:156383005 SNOMEDCT_US_2015_03_01:267854005 UMLS_CUI:C0027822 disease_ontology central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. DOID:331 ICD10CM:G96.9 MSH:D002493 NCI:C2934 SNOMEDCT_US_2015_03_01:138748005 SNOMEDCT_US_2015_03_01:154981003 SNOMEDCT_US_2015_03_01:155049004 SNOMEDCT_US_2015_03_01:155059003 SNOMEDCT_US_2015_03_01:192641002 SNOMEDCT_US_2015_03_01:193076009 SNOMEDCT_US_2015_03_01:194566008 SNOMEDCT_US_2015_03_01:23853001 SNOMEDCT_US_2015_03_01:267144009 SNOMEDCT_US_2015_03_01:267679005 SNOMEDCT_US_2015_03_01:267700003 SNOMEDCT_US_2015_03_01:267702006 SNOMEDCT_US_2015_03_01:275539005 UMLS_CUI:C0007682 disease_ontology A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system_disease atopic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. Allergic (intrinsic) eczema (disorder) Atopic dermatitis Atopic dermatitis (disorder) Atopic dermatitis NOS (disorder) Atopic neurodermatitis (disorder) Besnier's prurigo Besnier's prurigo (disorder) DOID:3310 EFO:0000274 ICD10CM:L20 ICD10CM:L20.81 ICD10CM:L20.9 MSH:D003876 OMIM:603165 OMIM:605803 OMIM:605804 OMIM:605805 OMIM:605844 OMIM:605845 OMIM:613064 OMIM:613518 OMIM:613519 SNOMEDCT_US_2015_03_01:156331003 SNOMEDCT_US_2015_03_01:200772001 SNOMEDCT_US_2015_03_01:200775004 SNOMEDCT_US_2015_03_01:200779005 SNOMEDCT_US_2015_03_01:24079001 UMLS_CUI:C0011615 Xref MGI. OMIM mapping confirmed by DO. [SN]. allergic dermatitis atopic eczema disease_ontology CSP2005:2716-6917 allergic dermatitis Besnier's prurigo MTHICD9_2006:691.8 Besnier's prurigo (disorder) SNOMEDCT_2005_07_31:200773006 Atopic dermatitis SNOMEDCT_2005_07_31:156331003 CSP2005:2716-6989 allergic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. ls:IEDB url:http://en.wikipedia.org/wiki/Atopic_dermatitis Atopic neurodermatitis (disorder) SNOMEDCT_2005_07_31:200775004 Allergic (intrinsic) eczema (disorder) SNOMEDCT_2005_07_31:200772001 Atopic dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200779005 Atopic dermatitis (disorder) SNOMEDCT_2005_07_31:24079001 bipolar disorder A mood disorder that involves alternating periods of mania and depression. DOID:3311 DOID:3312 DOID:9554 DOID:9555 Depressive-manic psych. EFO:0000289 ICD10CM:F31 ICD10CM:F31.9 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MSH:D001714 Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder NCI:C34423 NCI:C34424 NCI:C34805 SNOMEDCT_US_2015_03_01:13746004 SNOMEDCT_US_2015_03_01:154871001 SNOMEDCT_US_2015_03_01:16506000 SNOMEDCT_US_2015_03_01:191627008 SNOMEDCT_US_2015_03_01:191646009 SNOMEDCT_US_2015_03_01:191647000 SNOMEDCT_US_2015_03_01:191654006 SNOMEDCT_US_2015_03_01:192355004 SNOMEDCT_US_2015_03_01:192365005 SNOMEDCT_US_2015_03_01:268749008 SNOMEDCT_US_2015_03_01:68569003 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780 bipolar depression bipolar disorder manic phase disease_ontology manic depression manic disorder mixed bipolar disorder Manic Depressive disorder NCI2004_11_17:C34423 Manic Bipolar Affective disorder NCI2004_11_17:C34805 CSP2005:2483-6691 bipolar disorder manic phase Manic bipolar I disorder SNOMEDCT_2005_07_31:68569003 CSP2005:2483-6684 bipolar depression Depressive-manic psych. SNOMEDCT_2005_07_31:154871001 A mood disorder that involves alternating periods of mania and depression. url:http://en.wikipedia.org/wiki/Mood_disorder angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells. Angiomyolipoma (morphologic abnormality) DOID:3314 MSH:D018207 NCI:C3734 SNOMEDCT_US_2015_03_01:19929002 UMLS_CUI:C0206633 disease_ontology A cell type benign neoplasm that from perivascular epithelioid cells. url:http://en.wikipedia.org/wiki/Angiomyolipoma url:http:www.rsroc.org.tw/db/ejournal/article/V33/N4/330405.pdf Angiomyolipoma (morphologic abnormality) SNOMEDCT_2005_07_31:19929002 lipoma A cell type benign neoplasm that is composed of lipocytes. DOID:3154 DOID:3315 DOID:9291 ICD10CM:D17 ICD10CM:D17.9 ICD9CM:214 ICD9CM:214.9 LIPOMATOSIS, FAMILIAL MULTIPLE Lipomatous neoplasm (morphologic abnormality) Lipomatous tumor MSH:D008067 MSH:D018205 NCI:C3192 NCI:C4248 NCI:C4502 OMIM mapping confirmed by DO. [SN]. OMIM:151900 SNOMEDCT_US_2015_03_01:115227001 SNOMEDCT_US_2015_03_01:154612003 SNOMEDCT_US_2015_03_01:189018005 SNOMEDCT_US_2015_03_01:189776008 SNOMEDCT_US_2015_03_01:189785008 SNOMEDCT_US_2015_03_01:254827004 SNOMEDCT_US_2015_03_01:254830006 SNOMEDCT_US_2015_03_01:254831005 SNOMEDCT_US_2015_03_01:46720004 SNOMEDCT_US_2015_03_01:93163002 UMLS_CUI:C0023798 UMLS_CUI:C0206631 UMLS_CUI:C0346118 benign lipomatous tumor benign tumor of Adipose tissue disease_ontology multiple lipomatosis tumor of adipose tissue (disorder) Lipomatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115227001 A cell type benign neoplasm that is composed of lipocytes. url:http://en.wikipedia.org/wiki/Benign_tumor Lipomatous tumor NCI2004_11_17:C4248 NCI2004_11_17:C4502 benign tumor of Adipose tissue SNOMEDCT_2005_07_31:254831005 tumor of adipose tissue (disorder) perivascular tumor DOID:3316 DOID:5234 NCI:C6528 NCI:C6530 UMLS_CUI:C1334611 UMLS_CUI:C1335392 disease_ontology malignant perivascular cancer hepatic angiomyolipoma DOID:3317 NCI:C27485 UMLS_CUI:C1333962 disease_ontology epithelioid type angiomyolipoma DOID:3318 NCI:C38151 UMLS_CUI:C1333426 disease_ontology lymphangioleiomyomatosis DOID:3319 DOID:3682 Lymphangiomyomatosis Lymphangiomyomatosis (morphologic abnormality) NCI:C38153 SNOMEDCT_US_2015_03_01:277844007 UMLS_CUI:C0349649 disease_ontology lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis (disorder) Lymphangiomyomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:73017001 Lymphangiomyomatosis NCI2004_11_17:C3725 SNOMEDCT_2005_07_31:277844007 pulmonary lymphangioleiomyomatosis (disorder) CSP2005:4009-0064 lymphangiomyomatosis amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. ALS DOID:332 EFO:0000253 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 Lou Gehrig's disease MSH:D000690 NCI:C34373 OMIM:105400 OMIM:205100 OMIM:205200 OMIM:602433 OMIM:608030 OMIM:611895 OMIM:612069 OMIM:612577 OMIM:613435 SNOMEDCT_US_2015_03_01:86044005 UMLS_CUI:C0002736 disease_ontology motor neuron disease, bulbar MTHICD9_2006:335.20 motor neuron disease, bulbar A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm ALS NCI2004_11_17:C34373 Tay-Sachs disease DOID:3320 ICD10CM:E75.02 MSH:D013661 NCI:C85184 OMIM mapping confirmed by DO. [SN]. OMIM:272800 SNOMEDCT_US_2015_03_01:111385000 Tay-Sachs disease (disorder) UMLS_CUI:C0039373 disease, Tay-Sachs disease_ontology hexosaminidase A deficiency SNOMEDCT_2005_07_31:111385000 Tay-Sachs disease (disorder) MTHICD9_2006:330.1 disease, Tay-Sachs CSP2005:1849-8690 hexosaminidase A deficiency gangliosidosis GM2 DOID:3321 GM>2< gangliosidosis (disorder) ICD10CM:E75.0 ICD10CM:E75.00 MSH:D020143 SNOMEDCT_US_2015_03_01:33316007 UMLS_CUI:C0268274 disease_ontology GM>2< gangliosidosis (disorder) SNOMEDCT_2005_07_31:33316007 gangliosidosis GM1 Beta-galactosidase deficiency DOID:3322 GM1 gangliosidosis (disorder) GM>1< gangliosidosis (disorder) ICD10CM:E75.19 Landing syndrome MSH:D016537 NCI:C84739 OMIM mapping confirmed by DO. [SN]. OMIM:230500 OMIM:230600 OMIM:230650 SNOMEDCT_US_2015_03_01:238025006 SNOMEDCT_US_2015_03_01:32917001 UMLS_CUI:C0085131 beta-Galactosidase deficiency deficiency of beta-galactosidase (disorder) disease_ontology SNOMEDCT_2005_07_31:33164006 beta-Galactosidase deficiency GM>1< gangliosidosis (disorder) SNOMEDCT_2005_07_31:32917001 SNOMEDCT_2005_07_31:124465002 deficiency of beta-galactosidase (disorder) CSP2005:1849-8633 Landing syndrome GM1 gangliosidosis (disorder) SNOMEDCT_2005_07_31:238025006 Beta-galactosidase deficiency SNOMEDCT_2005_07_31:238044004 Sandhoff disease DOID:3323 ICD10CM:E75.01 MSH:D012497 NCI:C85052 OMIM mapping confirmed by DO. [SN]. OMIM:268800 SNOMEDCT_US_2015_03_01:23849003 Sandhoff Jatzkewitz disease Sandhoff disease (disorder) UMLS_CUI:C0036161 disease_ontology SNOMEDCT_2005_07_31:23849003 Sandhoff disease (disorder) CSP2005:1849-8747 Sandhoff Jatzkewitz disease mood disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:3324 EFO:0004247 ICD10CM:F30-F39 ICD10CM:F39 MSH:D019964 NCI:C92200 SNOMEDCT_US_2015_03_01:192348001 SNOMEDCT_US_2015_03_01:192391006 SNOMEDCT_US_2015_03_01:268713007 SNOMEDCT_US_2015_03_01:46206005 SNOMEDCT_US_2015_03_01:74421008 UMLS_CUI:C0525045 Updating outdated UMLS CUI. disease_ontology episodic mood disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml hyperglobulinemic purpura DOID:3325 MSH:D011694 SNOMEDCT_US_2015_03_01:402852007 UMLS_CUI:C0034151 disease_ontology hyperglobulinemic purpura (disorder) SNOMEDCT_2005_07_31:402852007 hyperglobulinemic purpura (disorder) purpura DOID:3326 ICD10CM:D69.2 MSH:D011693 NCI:C78787 Purpuric disorder SNOMEDCT_US_2015_03_01:118653003 SNOMEDCT_US_2015_03_01:12393003 SNOMEDCT_US_2015_03_01:154822006 SNOMEDCT_US_2015_03_01:191313005 SNOMEDCT_US_2015_03_01:246989006 SNOMEDCT_US_2015_03_01:267564008 SNOMEDCT_US_2015_03_01:387778001 SNOMEDCT_US_2015_03_01:423902002 UMLS_CUI:C0034150 disease_ontology Purpuric disorder SNOMEDCT_2005_07_31:387778001 partial motor epilepsy DOID:3327 Focal motor seizure (disorder) Focal motor seizure, NOS MSH:D020938 NCI:C50847 SNOMEDCT_US_2015_03_01:128612007 SNOMEDCT_US_2015_03_01:67139004 SNOMEDCT_US_2015_03_01:82401000 UMLS_CUI:C0016399 disease_ontology epilepsy, focal motor NOS Focal motor seizure, NOS SNOMEDCT_2005_07_31:67139004 MTHICD9_2006:345.5 epilepsy, focal motor NOS Focal motor seizure (disorder) SNOMEDCT_2005_07_31:128612007 temporal lobe epilepsy DOID:3328 MSH:D004833 SNOMEDCT_US_2015_03_01:155040000 SNOMEDCT_US_2015_03_01:193000002 SNOMEDCT_US_2015_03_01:84340007 UMLS_CUI:C0014556 disease_ontology epilepsy, temporal lobe MTHICD9_2006:345.4 epilepsy, temporal lobe benign epilepsy with centrotemporal spikes BCECTS DOID:3329 MSH:D019305 SNOMEDCT_US_2015_03_01:193024005 UMLS_CUI:C0376532 benign Rolandic epilepsy (disorder) benign childhood epilepsy with centrotemporal spike disease_ontology rolandic epilepsy sylvan seizures SNOMEDCT_2005_07_31:44145005 benign Rolandic epilepsy (disorder) SNOMEDCT_2005_07_31:193024005 benign childhood epilepsy with centrotemporal spike chronic factitious illness with physical symptoms DOID:333 disease_ontology true partial sensory epilepsy DOID:3330 MSH:D020937 UMLS_CUI:C0752322 disease_ontology frontal lobe epilepsy DOID:3331 Frontal lobe epilepsy (disorder) MSH:D017034 SNOMEDCT_US_2015_03_01:230394006 UMLS_CUI:C0085541 disease_ontology Frontal lobe epilepsy (disorder) SNOMEDCT_2005_07_31:230394006 haemonchiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. DOID:3332 MSH:D006188 UMLS_CUI:C0018477 disease_ontology A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. url:http://en.wikipedia.org/wiki/Haemonchus_contortus histrionic personality disorder A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. DOID:334 ICD10CM:F60.4 ICD9CM:301.5 ICD9CM:301.50 MSH:D006677 NCI:C92634 SNOMEDCT_US_2015_03_01:154900000 SNOMEDCT_US_2015_03_01:191764009 SNOMEDCT_US_2015_03_01:191767002 SNOMEDCT_US_2015_03_01:192489002 SNOMEDCT_US_2015_03_01:268758001 SNOMEDCT_US_2015_03_01:55341008 UMLS_CUI:C0019681 disease_ontology A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder lymphangioendothelioma DOID:3340 Lymphangioendothelioma, NOS disease_ontology lymphangioendothelioma true Lymphangioendothelioma, NOS SNOMEDCT_2005_07_31:69044001 CSP2005:2004-0139 lymphangioendothelioma osteitis fibrosa A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. DOID:3341 MSH:D010002 NCI:C34875 Osteitis fibrosa cystica generalisata (disorder) SNOMEDCT_US_2015_03_01:190451000 SNOMEDCT_US_2015_03_01:190453002 SNOMEDCT_US_2015_03_01:84727000 UMLS_CUI:C0029405 Von Recklinghausen's bone disease disease_ontology hyperparathyroid bone disease A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm url:http://www.umm.edu/ency/article/001252.htm Osteitis fibrosa cystica generalisata (disorder) SNOMEDCT_2005_07_31:84727000 SNOMEDCT_2005_07_31:190453002 hyperparathyroid bone disease SNOMEDCT_2005_07_31:190451000 Von Recklinghausen's bone disease bone inflammation disease A bone disease that results_in inflammation of the located_in bone. DOID:3342 Inflammatory disorder of bone MSH:D010000 SNOMEDCT_US_2015_03_01:156780005 SNOMEDCT_US_2015_03_01:274144001 SNOMEDCT_US_2015_03_01:363172002 SNOMEDCT_US_2015_03_01:44462005 UMLS_CUI:C0029400 bone inflammatory disease disease_ontology osteitis Inflammatory disorder of bone SNOMEDCT_2005_07_31:363172002 SNOMEDCT_2005_07_31:156780005 bone inflammatory disease CSP2005:2715-2703 osteitis A bone disease that results_in inflammation of the located_in bone. url:http://en.wikipedia.org/wiki/Osteitis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteitis.aspx url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis glycoproteinosis A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). DOID:3343 ICD10:E77.1 MSH:D009081 Mucolipidosis type I NCI:C61267 OMIM mapping submitted by NeuroDevNet. [LS]. OMIM:256550 SNOMEDCT_US_2015_03_01:70528007 UMLS_CUI:C0026697 disease_ontology sialidosis A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). url:http://en.wikipedia.org/wiki/Sialidosis url:https://en.wikipedia.org/wiki/Glycoproteinosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract xanthomatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. DOID:3345 MSH:D014973 SNOMEDCT_US_2015_03_01:63103006 UMLS_CUI:C0043325 disease_ontology xanthelasmatosis CSP2005:1746-8555 xanthelasmatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. url:http://en.wikipedia.org/wiki/Xanthoma osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. DOID:183 DOID:3347 MSH:D012516 MSH:D018213 NCI:C9145 OMIM mapping confirmed by DO. [SN]. OMIM:259500 Osteogenic sarcoma SNOMEDCT_US_2015_03_01:189878003 SNOMEDCT_US_2015_03_01:21708004 SNOMEDCT_US_2015_03_01:307576001 SNOMEDCT_US_2015_03_01:408387006 Skeletal sarcoma UMLS_CUI:C0029463 UMLS_CUI:C0206639 bone tissue neoplasm disease_ontology osteoid sarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. url:http://en.wikipedia.org/wiki/Osteosarcoma url:http://www.cancer.gov/dictionary?cdrid=45395 CSP2005:2019-1578 osteoid sarcoma NCI2004_11_17:C9312 Skeletal sarcoma NCI2004_11_17:C9145 Osteogenic sarcoma osteogenic neoplasm DOID:3349 Osteogenic tumor disease_ontology true NCI2004_11_17:C6603 Osteogenic tumor mesenchymal cell neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. DOID:1630 DOID:3350 NCI:C6587 NCI:C7059 UMLS_CUI:C1332517 UMLS_CUI:C1334699 benign miscellaneous mesenchymal tumor disease_ontology mesenchymal tumor NCI2004_11_17:C7059 mesenchymal tumor A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. url:http://en.wikipedia.org/wiki/Mesenchymal_cell url:http://www.ncbi.nlm.nih.gov/books/NBK9549/ bone angioendothelial sarcoma DOID:3351 NCI:C6479 UMLS_CUI:C1332574 disease_ontology osseous hemangiosarcoma NCI2004_11_17:C6479 osseous hemangiosarcoma malignant fibrous histiocytoma of bone DOID:3352 NCI:C8563 UMLS_CUI:C0740479 disease_ontology malignant fibrous Histiocytoma of the bone NCI2004_11_17:C8563 malignant fibrous Histiocytoma of the bone fibrosarcoma of bone DOID:3354 Fibrosarcoma of the bone disease_ontology Fibrosarcoma of the bone NCI2004_11_17:C6604 fibrosarcoma A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. DOID:156 DOID:3355 DOID:3509 Fibrocytic tumor MSH:D005354 MSH:D018218 NCI:C3043 NCI:C6605 NCI:C7075 SNOMEDCT_US_2015_03_01:443250000 SNOMEDCT_US_2015_03_01:53654007 UMLS_CUI:C0016057 UMLS_CUI:C0206643 UMLS_CUI:C1336021 disease_ontology fibrosarcoma of soft tissue fibrous tissue neoplasm Fibrocytic tumor NCI2004_11_17:C7075 A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. url:http://en.wikipedia.org/wiki/Fibrosarcoma localized osteosarcoma DOID:3356 NCI:C7780 UMLS_CUI:C0278511 disease_ontology localized Osteogenic sarcoma NCI2004_11_17:C7780 localized Osteogenic sarcoma extraosseous osteosarcoma DOID:3357 NCI:C8810 SNOMEDCT_US_2015_03_01:404077005 UMLS_CUI:C0855052 disease_ontology extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma (disorder) SNOMEDCT_2005_07_31:404077005 extraskeletal osteosarcoma (disorder) NCI2004_11_17:C8810 extraskeletal Osteogenic sarcoma malignant extraskeletal cartilaginous and osseous tumor DOID:3359 disease_ontology true non-traumatic tendon rupture DOID:13772 DOID:14160 DOID:14337 DOID:336 DOID:9887 Nontraumatic rupture of extensor tendons of hand and wrist Nontraumatic rupture of flexor tendons of hand and wrist Nontraumatic rupture of quadriceps tendon Nontraumatic rupture of tendons of biceps Nontraumatic rupture of tendons of biceps (long head) Nontraumatic rupture of tendons of biceps, long head disease_ontology true MTHICD9_2006:727.62 Nontraumatic rupture of tendons of biceps ICD9CM_2006:727.62 Nontraumatic rupture of tendons of biceps (long head) multifocal osteogenic sarcoma DOID:3360 NCI:C6470 SNOMEDCT_US_2015_03_01:431371000124105 UMLS_CUI:C1334820 disease_ontology pediatric osteosarcoma DOID:3361 NCI:C6585 UMLS_CUI:C1332986 disease_ontology coronary aneurysm Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels DOID:3362 ICD10CM:I25.41 ICD9CM:414.11 MSH:D003323 SNOMEDCT_US_2015_03_01:373139003 SNOMEDCT_US_2015_03_01:50570003 UMLS_CUI:C0010051 disease_ontology Aneurysmal lesion of coronary artery SNOMEDCT_2005_07_31:50570003 Aneurysm of coronary vessels ICD9CM_2006:414.11 Aneurysmal lesion of coronary artery SNOMEDCT_2005_07_31:373139003 Arteriovenous aneurysm of coronary vessels MTHICD9_2006:414.11 recurrent osteosarcoma DOID:3365 disease_ontology relapsed Osteosarcoma true NCI2004_11_17:C7881 relapsed Osteosarcoma bone leiomyosarcoma DOID:3367 NCI:C7154 UMLS_CUI:C1332579 disease_ontology bone Ewing's sarcoma A peripheral primitive neuroectodermal tumor that is located_in bone. DOID:3368 DOID:4984 DOID:6392 Ewing's sarcoma of bone (disorder) Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor NCI:C35871 NCI:C4835 NCI:C6623 SNOMEDCT_US_2015_03_01:307608006 Skeletal Ewing's tumor UMLS_CUI:C0585474 UMLS_CUI:C1333481 UMLS_CUI:C1334406 bone Ewing sarcoma bone Ewing's sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma disease_ontology localized Skeletal Ewing's sarcoma NCI2004_11_17:C4835 Skeletal Ewing's tumor Ewing's sarcoma of bone (disorder) SNOMEDCT_2005_07_31:307608006 A peripheral primitive neuroectodermal tumor that is located_in bone. url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma NCI2004_11_17:C6623 localized Skeletal Ewing's sarcoma Ewing sarcoma A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. DOID:0050607 DOID:3369 DOID:4158 DOID:4390 DOID:4391 DOID:4392 DOID:4980 Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor MSH:C563168 MSH:D012512 MSH:D018241 NCI:C27901 NCI:C27903 NCI:C4817 NCI:C7542 NCI:C7806 NCI:C9341 OMIM mapping confirmed by DO. [SN]. OMIM:612219 PNET of Thoracopulmonary Region SNOMEDCT_US_2015_03_01:128783001 SNOMEDCT_US_2015_03_01:134210007 SNOMEDCT_US_2015_03_01:253096008 SNOMEDCT_US_2015_03_01:703707001 SNOMEDCT_US_2015_03_01:73506006 SNOMEDCT_US_2015_03_01:73676002 SNOMEDCT_US_2015_03_01:76909002 UMLS_CUI:C0553580 UMLS_CUI:C0684337 UMLS_CUI:C0796547 UMLS_CUI:C0863029 UMLS_CUI:C0877849 UMLS_CUI:C1334408 disease_ontology localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor NCI2004_11_17:C27901 localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor CSP2005:2008-4746 Ewing's tumor A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor url:http://www.cancer.gov/dictionary?cdrid=383924 NCI2004_11_17:C7806 localized Ewing's tumor NCI2004_11_17:C7542 PNET of Thoracopulmonary Region Ewing's sarcoma/peripheral primitive neuroectodermal tumor NCI2004_11_17:C27291 Ewing's tumor NCI2004_11_17:C4817 spinal accessory nerve neoplasm DOID:337 NCI:C5829 SNOMEDCT_US_2015_03_01:126977003 UMLS_CUI:C1263902 XIth Cranial nerve tumors disease_ontology neoplasm of accessory nerve (disorder) SNOMEDCT_2005_07_31:126977003 neoplasm of accessory nerve (disorder) NCI2004_11_17:C5829 XIth Cranial nerve tumors chondrosarcoma A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage. DOID:3370 DOID:3371 MSH:D002813 NCI:C2946 NCI:C7155 OMIM mapping confirmed by DO. [SN]. OMIM:215300 SNOMEDCT_US_2015_03_01:14990007 SNOMEDCT_US_2015_03_01:189886003 SNOMEDCT_US_2015_03_01:443520009 UMLS_CUI:C0008479 UMLS_CUI:C1335473 chondrosarcoma of bone disease_ontology primary chondrosarcoma of the bone A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage. url:http://en.wikipedia.org/wiki/Chondrosarcoma NCI2004_11_17:C7155 primary chondrosarcoma of the bone SNOMEDCT_2005_07_31:134336003 chondrosarcoma of bone chondroblastic osteosarcoma Chondroblastic osteosarcoma (morphologic abnormality) DOID:3372 NCI:C4021 SNOMEDCT_US_2015_03_01:76312009 UMLS_CUI:C0279603 chondrosarcomatous Osteogenic sarcoma disease_ontology NCI2004_11_17:C4021 chondrosarcomatous Osteogenic sarcoma Chondroblastic osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:76312009 juxtacortical osteosarcoma DOID:3373 MSH:D018217 NCI:C8969 Parosteal Osteogenic sarcoma Parosteal Osteosarcoma SNOMEDCT_US_2015_03_01:128918008 SNOMEDCT_US_2015_03_01:189879006 SNOMEDCT_US_2015_03_01:91242000 UMLS_CUI:C0206642 disease_ontology MTH:NOCODE Parosteal Osteosarcoma NCI2004_11_17:C8969 Parosteal Osteogenic sarcoma peripheral osteosarcoma DOID:3374 NCI:C7134 Surface Osteosarcoma UMLS_CUI:C1332591 disease_ontology NCI2004_11_17:C7134 Surface Osteosarcoma bone osteosarcoma DOID:3376 NCI:C53707 Osteosarcoma of bone (disorder) SNOMEDCT_US_2015_03_01:307576001 UMLS_CUI:C0585442 disease_ontology primary Osteosarcoma of bone Osteosarcoma of bone (disorder) SNOMEDCT_2005_07_31:307576001 NCI2004_11_17:C4834 primary Osteosarcoma of bone small cell osteogenic sarcoma small cell osteosarcoma (morphologic abnormality) DOID:3377 NCI:C4023 Round cell osteosarcoma SNOMEDCT_US_2015_03_01:12302002 SNOMEDCT_US_2015_03_01:189882001 UMLS_CUI:C0279622 disease_ontology small cell Osteosarcoma Round cell osteosarcoma SNOMEDCT_2005_07_31:12302002 NCI2004_11_17:C4023 small cell Osteosarcoma small cell osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:189882001 conventional central osteosarcoma DOID:3378 Medullary Osteosarcoma Medullary osteosarcoma conventional Osteosarcoma disease_ontology Medullary osteosarcoma SNOMEDCT_2005_07_31:128770002 NCI2004_11_17:C35870 conventional Osteosarcoma Medullary Osteosarcoma NCI2004_11_17:C6901 metachronous osteosarcoma of the bone DOID:3379 NCI:C38157 UMLS_CUI:C1334704 disease_ontology cranial nerve neoplasm DOID:338 MSH:D003390 NCI:C2963 SNOMEDCT_US_2015_03_01:126966009 UMLS_CUI:C0010267 disease_ontology neoplasm of cranial nerve (disorder) tumor of the Cranial nerve SNOMEDCT_2005_07_31:126966009 neoplasm of cranial nerve (disorder) NCI2004_11_17:C2963 tumor of the Cranial nerve liposarcoma of bone DOID:3381 Liposarcoma of the bone NCI:C7598 UMLS_CUI:C1332581 disease_ontology Liposarcoma of the bone NCI2004_11_17:C7598 liposarcoma A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum. DOID:3382 MSH:D008080 NCI:C3194 SNOMEDCT_US_2015_03_01:189777004 SNOMEDCT_US_2015_03_01:254829001 SNOMEDCT_US_2015_03_01:49430005 UMLS_CUI:C0023827 disease_ontology A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum. url:http://en.wikipedia.org/wiki/Liposarcoma metastatic osteosarcoma DOID:3384 disease_ontology metastatic Osteogenic sarcoma true NCI2004_11_17:C7781 metastatic Osteogenic sarcoma bacterial vaginosis A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. Bacterial vaginosis Bacterial vaginosis (disorder) DOID:3385 MSH:D016585 NSV - Nonspecific vaginitis SNOMEDCT_US_2015_03_01:155981006 SNOMEDCT_US_2015_03_01:198221007 SNOMEDCT_US_2015_03_01:237092002 SNOMEDCT_US_2015_03_01:266655004 SNOMEDCT_US_2015_03_01:419760006 SNOMEDCT_US_2015_03_01:85569008 UMLS_CUI:C0085166 disease_ontology Bacterial vaginosis (disorder) SNOMEDCT_2005_07_31:85569008 Bacterial vaginosis SNOMEDCT_2005_07_31:155981006 NSV - Nonspecific vaginitis SNOMEDCT_2005_07_31:237092002 A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. url:http://www.rho.org/html/glossary.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis Bacterial vaginosis SNOMEDCT_2005_07_31:198221007 Bacterial vaginosis SNOMEDCT_2005_07_31:266655004 periodontal disease DOID:3388 ICD10CM:K05.6 MSH:D010510 NCI:C63743 Periodontal disease Periodontal disease (disorder) SNOMEDCT_US_2015_03_01:13877006 SNOMEDCT_US_2015_03_01:196354003 SNOMEDCT_US_2015_03_01:2556008 UMLS_CUI:C0031090 disease of supporting structures of teeth, NOS disease_ontology periodontium disorder CSP2005:0828-4279 periodontium disorder Periodontal disease SNOMEDCT_2005_07_31:196354003 SNOMEDCT_2005_07_31:13877006 disease of supporting structures of teeth, NOS Periodontal disease (disorder) SNOMEDCT_2005_07_31:2556008 Papillon-Lefevre disease DOID:3389 MSH:D010214 NCI:C84992 OMIM mapping confirmed by DO. [SN]. OMIM:245000 Papillon Lefevre syndrome Papillon-Lefvre syndrome (disorder) SNOMEDCT_US_2015_03_01:40158001 UMLS_CUI:C0030360 disease_ontology CSP2005:2716-7025 Papillon Lefevre syndrome Papillon-Lefvre syndrome (disorder) SNOMEDCT_2005_07_31:40158001 CSP2005:0828-4592 Papillon Lefevre syndrome accessory nerve disease DOID:339 Eleventh nerve disorder ICD9CM:352.4 MSH:D020436 NCI:C26953 SNOMEDCT_US_2015_03_01:84759007 UMLS_CUI:C0152180 disease_ontology disorder of 11th nerve disorder of accessory [11th] nerve disorder of accessory nerve (disorder) SNOMEDCT_2005_07_31:84759007 disorder of accessory nerve (disorder) Eleventh nerve disorder NCI2004_11_17:C26953 ICD9CM_2006:352.4 disorder of accessory [11th] nerve MTHICD9_2006:352.4 disorder of 11th nerve palmoplantar keratosis A keratosis characterized by abnormal thickening of the palms and the soles. DOID:3390 ICD10CM:L85.2 Keratosis palmaris et plantaris MSH:D007645 NCI:C34748 Palmoplantar Keratoderma SNOMEDCT_US_2015_03_01:205584004 SNOMEDCT_US_2015_03_01:28596004 SNOMEDCT_US_2015_03_01:706885006 UMLS_CUI:C0022596 disease_ontology A keratosis characterized by abnormal thickening of the palms and the soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma NCI2004_11_17:C34748 Palmoplantar Keratoderma Keratosis palmaris et plantaris SNOMEDCT_2005_07_31:205584004 coronary artery disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. CHD (coronary heart disease) Coronary disease DOID:10506 DOID:3363 DOID:3393 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.1 ICD10CM:I25.10 ICD10CM:I25.9 ICD10CM:K76.1 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MSH:D003324 MSH:D003327 MSH:D017202 NCI:C26732 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:608901 OMIM:610938 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 OMIM:614466 SNOMEDCT_US_2015_03_01:155303000 SNOMEDCT_US_2015_03_01:155315001 SNOMEDCT_US_2015_03_01:155316000 SNOMEDCT_US_2015_03_01:155318004 SNOMEDCT_US_2015_03_01:155322009 SNOMEDCT_US_2015_03_01:194795001 SNOMEDCT_US_2015_03_01:194841001 SNOMEDCT_US_2015_03_01:194852007 SNOMEDCT_US_2015_03_01:194878003 SNOMEDCT_US_2015_03_01:195540001 SNOMEDCT_US_2015_03_01:233822007 SNOMEDCT_US_2015_03_01:2610009 SNOMEDCT_US_2015_03_01:266231003 SNOMEDCT_US_2015_03_01:266290000 SNOMEDCT_US_2015_03_01:266291001 SNOMEDCT_US_2015_03_01:271430002 SNOMEDCT_US_2015_03_01:32598000 SNOMEDCT_US_2015_03_01:413838009 SNOMEDCT_US_2015_03_01:413844008 SNOMEDCT_US_2015_03_01:414545008 SNOMEDCT_US_2015_03_01:414795007 SNOMEDCT_US_2015_03_01:41702007 SNOMEDCT_US_2015_03_01:53741008 SNOMEDCT_US_2015_03_01:84537008 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694 Xref MGI. chronic myocardial ischaemia coronary arteriosclerosis coronary heart disease disease_ontology ischemic heart disease myocardial ischemia An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. url:http://en.wikipedia.org/wiki/Coronary_heart_disease Coronary disease NCI2004_11_17:C26732 CHD (coronary heart disease) CSP2005:1393-3397 SNOMEDCT_2005_07_31:194852007 chronic myocardial ischaemia inappropriate ADH syndrome DOID:3401 ICD10CM:E22.2 MSH:D007177 NCI:C3988 SNOMEDCT_US_2015_03_01:389983008 SNOMEDCT_US_2015_03_01:55004003 UMLS_CUI:C0021141 disease_ontology syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion (disorder) NCI2004_11_17:C3988 syndrome of Inappropriate Antidiuretic Hormone Secretion MTHICD9_2006:253.6 syndrome of inappropriate secretion of ADH SNOMEDCT_2005_07_31:55004003 syndrome of inappropriate vasopressin secretion (disorder) SNOMEDCT_2005_07_31:389983008 syndrome of inappropriate secretion of antidiuretic hormone ectopic hormone secretion syndrome associated with neoplasia DOID:3402 disease_ontology neoplasm associated Ectopic Hormone Secretion syndromes true NCI2004_11_17:C4065 neoplasm associated Ectopic Hormone Secretion syndromes hypergammaglobulinemia DOID:3403 disease_ontology hypergammaglobulinaemia hypergammaglobulinemia (finding) hypergammaglobulinemia [dup] (finding) hypergammaglobulinemia, NOS true SNOMEDCT_2005_07_31:127388009 hypergammaglobulinemia (finding) SNOMEDCT_2005_07_31:267571003 hypergammaglobulinaemia SNOMEDCT_2005_07_31:191396003 hypergammaglobulinemia [dup] (finding) SNOMEDCT_2005_07_31:154840005 hypergammaglobulinaemia SNOMEDCT_2005_07_31:58034007 hypergammaglobulinemia, NOS benign monoclonal gammopathy BMH DOID:3404 benign Monoclonal Gammopathy benign monoclonal gammopathy (disorder) disease_ontology true SNOMEDCT_2005_07_31:58648008 benign monoclonal gammopathy (disorder) NCI2004_11_17:C3996 benign Monoclonal Gammopathy BMH MTHICD9_2006:273.1 histiocytosis A lymphatic system disease that is characterized by an excessive number of histiocytes. DOID:3344 DOID:3405 Hand Schuller Christian disease MSH:D015614 NCI:C3106 SNOMEDCT_US_2015_03_01:190957008 SNOMEDCT_US_2015_03_01:60657004 SNOMEDCT_US_2015_03_01:65396000 UMLS_CUI:C0019618 chronic Histiocytosis X disease_ontology MTHICD9_2006:277.89 chronic Histiocytosis X A lymphatic system disease that is characterized by an excessive number of histiocytes. url:http://en.wikipedia.org/wiki/Histiocytosis url:http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm CSP2005:0427-5330 Hand Schuller Christian disease carotid artery disease DOID:3407 MSH:D002340 NCI:C84476 SNOMEDCT_US_2015_03_01:371160000 UMLS_CUI:C0007273 disease_ontology disorder of carotid artery (disorder) SNOMEDCT_2005_07_31:371160000 disorder of carotid artery (disorder) peripheral vascular disease A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. Arterial occlusive disease DOID:2868 DOID:341 ICD9CM:443.81 MSH:D001157 SNOMEDCT_US_2015_03_01:195624006 SNOMEDCT_US_2015_03_01:2929001 UMLS_CUI:C0003838 UMLS_CUI:C0031115 arterial occlusive disease disease_ontology Arterial occlusive disease SNOMEDCT_2005_07_31:2929001 A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. url:http://en.wikipedia.org/wiki/Peripheral_vascular_disease carotid artery thrombosis Carotid artery thrombosis Carotid artery thrombosis (disorder) DOID:3410 MSH:D002341 SNOMEDCT_US_2015_03_01:195181000 SNOMEDCT_US_2015_03_01:86003009 UMLS_CUI:C0007274 disease_ontology Carotid artery thrombosis SNOMEDCT_2005_07_31:195181000 Carotid artery thrombosis (disorder) SNOMEDCT_2005_07_31:86003009 infectious canine hepatitis A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. DOID:3412 disease_ontology true A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. url:http://en.wikipedia.org/wiki/Infectious_canine_hepatitis url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm alpha-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. Alpha-D-mannosidosis DOID:3413 MSH:D008363 NCI:C84548 OMIM mapping confirmed by DO. [SN]. OMIM:248500 SNOMEDCT_US_2015_03_01:124466001 SNOMEDCT_US_2015_03_01:65524005 UMLS_CUI:C0024748 alpha-mannosidase deficiency deficiency of alpha-mannosidase (disorder) disease_ontology Alpha-D-mannosidosis SNOMEDCT_2005_07_31:65524005 A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. url:http://en.wikipedia.org/wiki/Alpha-mannosidosis SNOMEDCT_2005_07_31:124466001 deficiency of alpha-mannosidase (disorder) mannosidase deficiency disease DOID:3414 Mannosidosis Mannosidosis (disorder) disease_ontology mannosidase deficiency true MTHICD9_2006:271.8 Mannosidosis CSP2005:1849-6504 mannosidase deficiency Mannosidosis SNOMEDCT_2005_07_31:190937009 Mannosidosis (disorder) SNOMEDCT_2005_07_31:65524005 glossopharyngeal nerve neoplasm DOID:3417 NCI:C5828 SNOMEDCT_US_2015_03_01:126975006 UMLS_CUI:C1263900 disease_ontology neoplasm of glossopharyngeal nerve (disorder) tumor of Glossopharyngeal nerve SNOMEDCT_2005_07_31:126975006 neoplasm of glossopharyngeal nerve (disorder) NCI2004_11_17:C5828 tumor of Glossopharyngeal nerve glossopharyngeal nerve disease DOID:3418 ICD10CM:G52 ICD9CM:352 SNOMEDCT_US_2015_03_01:193098000 UMLS_CUI:C0154730 disease_ontology optic nerve neoplasm DOID:3419 MSH:D019574 NCI:C4801 SNOMEDCT_US_2015_03_01:126968005 SNOMEDCT_US_2015_03_01:254971001 SNOMEDCT_US_2015_03_01:395505000 Tumour of optic nerve UMLS_CUI:C0524802 disease_ontology neoplasm of optic nerve (disorder) tumor of Second Cranial nerve SNOMEDCT_2005_07_31:395505000 neoplasm of optic nerve (disorder) NCI2004_11_17:C4801 tumor of Second Cranial nerve SNOMEDCT_2005_07_31:126968005 neoplasm of optic nerve (disorder) SNOMEDCT_2005_07_31:254971001 Tumour of optic nerve subclavian artery aneurysm DOID:342 ICD9CM:442.82 SNOMEDCT_US_2015_03_01:40136003 UMLS_CUI:C0155746 disease_ontology neoplasm of visual pathway DOID:3420 disease_ontology true tumor of the visual pathway NCI2004_11_17:C6262 tumor of the visual pathway trochlear nerve neoplasm DOID:3421 NCI:C5825 SNOMEDCT_US_2015_03_01:126970001 UMLS_CUI:C1263896 disease_ontology neoplasm of trochlear nerve (disorder) tumor of Trochlear nerve SNOMEDCT_2005_07_31:126970001 neoplasm of trochlear nerve (disorder) NCI2004_11_17:C5825 tumor of Trochlear nerve vestibular disease DOID:3426 ICD10CM:H81 ICD10CM:H81.9 ICD10CM:H81.90 MSH:D015837 SNOMEDCT_US_2015_03_01:194379003 SNOMEDCT_US_2015_03_01:194695008 SNOMEDCT_US_2015_03_01:20425006 SNOMEDCT_US_2015_03_01:267761002 UMLS_CUI:C0042594 Vertigo, vestibular disorder Vestibular disorder, NOS disease_ontology disorder of vestibular function, unspecified disorder of vestibular function, unspecified (disorder) SNOMEDCT_2005_07_31:267761002 Vertigo, vestibular disorder SNOMEDCT_2005_07_31:194695008 disorder of vestibular function, unspecified (disorder) SNOMEDCT_2005_07_31:20425006 Vestibular disorder, NOS SNOMEDCT_2005_07_31:194379003 disorder of vestibular function, unspecified granulomatous myositis Adding UMLS CUI for synonym. DOID:3428 NCI:C27575 UMLS_CUI:C1334150 disease_ontology inclusion body myositis A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. DOID:3429 Distal Myopathy with Rimmed Vacuoles (DMRV) Distal myopathy, Nonaka type HIBM Hereditary Inclusion Body Myopathy IBM-3 IBM2 ICD10CM:G72.41 ICD9CM:359.71 MSH:D018979 NCI:C84786 Nonaka Myopathy Nonaka myopathy OMIM mapping confirmed by DO. [SN]. OMIM:147421 OMIM:600737 OMIM:605637 OMIM:605820 SNOMEDCT_US_2015_03_01:72315009 UMLS_CUI:C0238190 disease_ontology inclusion body myopathy 2 inclusion body myopathy 3 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. url:http://en.wikipedia.org/wiki/Inclusion_body_myositis url:http://www.jewishgeneticdiseases.org/diseases/hereditary-inclusion-body-myopathy-2/ url:http://www.myositis.org/learn-about-myositis/types-of-myositis/inclusion-body-myositis url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853926/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602 cerebritis DOID:3431 NCI:C27199 UMLS_CUI:C0742115 disease_ontology viral laryngitis A acute laryngitis which is caused by viral infection. DOID:3436 NCI:C27305 SNOMEDCT_US_2015_03_01:441551009 UMLS_CUI:C0853195 disease_ontology A acute laryngitis which is caused by viral infection. url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html laryngitis A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. DOID:3437 MSH:D007827 NCI:C26811 SNOMEDCT_US_2015_03_01:45913009 UMLS_CUI:C0023067 disease_ontology A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. url:http://en.wikipedia.org/wiki/Laryngitis disease of biological process A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. DOID:344 disease_ontology true A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. DO:wk,ls mammary Paget's disease DOID:3443 NCI:C7073 Paget cell neoplasm Paget's disease Paget's disease of the breast UMLS_CUI:C1368019 disease_ontology mammary Paget disease NCI2004_11_17:C7073 Paget cell neoplasm scrotum Paget's disease DOID:3444 NCI:C7728 Paget's disease of scrotum UMLS_CUI:C0238330 disease_ontology scrotum Paget disease NCI2004_11_17:C7728 Paget's disease of scrotum scrotal carcinoma DOID:3445 NCI:C6389 UMLS_CUI:C1370468 carcinoma of scrotum disease_ontology NCI2004_11_17:C6389 carcinoma of scrotum anal Paget's disease DOID:3446 NCI:C5598 Paget's disease of anus Paget's disease of the anus UMLS_CUI:C1332274 anal Paget disease disease_ontology NCI2004_11_17:C5598 Paget's disease of anus anus adenocarcinoma An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. DOID:3447 NCI:C5600 SNOMEDCT_US_2015_03_01:423607006 UMLS_CUI:C1332257 adenocarcinoma of anus adenocarcinoma of the anus disease_ontology An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C5600 adenocarcinoma of anus penis Paget's disease DOID:3448 NCI:C27817 Paget's disease of penis SNOMEDCT_US_2015_03_01:255104003 SNOMEDCT_US_2015_03_01:398768004 UMLS_CUI:C0221286 disease_ontology penis Paget disease Paget's disease of penis SNOMEDCT_2005_07_31:398768004 Paget's disease of penis SNOMEDCT_2005_07_31:255104003 penis carcinoma A penile cancer that is located_in the skin or tissues of the penis. DOID:3449 NCI:C9061 Penile carcinoma SNOMEDCT_US_2015_03_01:372106005 UMLS_CUI:C0853105 carcinoma of penis (disorder) disease_ontology A penile cancer that is located_in the skin or tissues of the penis. url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis SNOMEDCT_2005_07_31:372106005 carcinoma of penis (disorder) NCI2004_11_17:C9061 Penile carcinoma uterine disease A female reproductive system disease that is located_in the uterus. DOID:345 ICD10CM:N85.9 ICD9CM:621.9 MSH:D014591 NCI:C26907 SNOMEDCT_US_2015_03_01:12337004 SNOMEDCT_US_2015_03_01:156004005 SNOMEDCT_US_2015_03_01:156009000 SNOMEDCT_US_2015_03_01:198335006 SNOMEDCT_US_2015_03_01:237068005 UMLS_CUI:C0042131 disease_ontology A female reproductive system disease that is located_in the uterus. url:http://www.merriam-webster.com/dictionary/uterus cutaneous Paget's disease Cutaneous Paget's disease DOID:3450 Paget's disease of skin (morphologic abnormality) cutaneous Paget disease disease_ontology Paget's disease of skin (morphologic abnormality) SNOMEDCT_2005_07_31:232336001 Cutaneous Paget's disease NCI2004_11_17:C4688 skin carcinoma A skin cancer that is located_in tissues of the skin and develops from epithelial cells. DOID:3451 NCI:C4914 Non-melanoma skin cancer UMLS_CUI:C0699893 carcinoma OF SKIN carcinoma of skin disease_ontology MTH:683 carcinoma OF SKIN NCI2004_11_17:C4914 Non-melanoma skin cancer A skin cancer that is located_in tissues of the skin and develops from epithelial cells. url:http://www.cancer.gov/cancertopics/types/skin brain infarction DOID:3454 MSH:D020520 UMLS_CUI:C0751955 disease_ontology cervix erosion DOID:3456 Erosion of cervix Erosion of cervix (disorder) MSH:D002579 SNOMEDCT_US_2015_03_01:156011009 SNOMEDCT_US_2015_03_01:266662008 SNOMEDCT_US_2015_03_01:61253004 UMLS_CUI:C0007869 disease_ontology Erosion of cervix (disorder) SNOMEDCT_2005_07_31:61253004 Erosion of cervix SNOMEDCT_2005_07_31:266662008 Erosion of cervix SNOMEDCT_2005_07_31:156011009 invasive lobular carcinoma DOID:3457 Lobular carcinoma (morphologic abnormality) Lobular carcinoma NOS (morphologic abnormality) Lobular carcinoma of breast (disorder) Lobular carcinoma of the breast MSH:D018275 NCI:C3771 SNOMEDCT_US_2015_03_01:189713007 SNOMEDCT_US_2015_03_01:278054005 SNOMEDCT_US_2015_03_01:89740008 UMLS_CUI:C0206692 disease_ontology Lobular carcinoma of the breast NCI2004_11_17:C3771 Lobular carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189713007 Lobular carcinoma of breast (disorder) SNOMEDCT_2005_07_31:278054005 Lobular carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:89740008 breast adenocarcinoma A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. DOID:3458 Mammary adenocarcinoma NCI:C5214 UMLS_CUI:C0858252 adenocarcinoma of breast disease_ontology A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. url:http://www.virtualmedicalcentre.com/diseases.asp?did=696 Mammary adenocarcinoma NCI2004_11_17:C5214 breast carcinoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:3459 EFO:0000305 Mammary carcinoma NCI:C4872 SNOMEDCT_US_2015_03_01:154513000 SNOMEDCT_US_2015_03_01:254838004 SNOMEDCT_US_2015_03_01:286898006 UMLS_CUI:C0678222 carcinoma OF breast carcinoma of breast carcinoma of breast (disorder) carcinoma of breast NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:286898006 carcinoma of breast NOS (disorder) MTH:118 carcinoma OF breast SNOMEDCT_2005_07_31:154513000 carcinoma of breast SNOMEDCT_2005_07_31:254838004 carcinoma of breast (disorder) A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Breast_cancer Mammary carcinoma NCI2004_11_17:C4872 breast hamartoma DOID:3461 disease_ontology true hamartoma DOID:3462 DOID:3474 disease_ontology hamartoma hamartoma (disorder) hamartoma (morphologic abnormality) hamartomatous polyp hamartomatous polyp (morphologic abnormality) true SNOMEDCT_2005_07_31:400006008 hamartoma (disorder) NCI2004_11_17:C3075 hamartoma SNOMEDCT_2005_07_31:27391005 hamartomatous polyp (morphologic abnormality) SNOMEDCT_2005_07_31:51398009 hamartoma (morphologic abnormality) breast disease A thoracic disease that is located_in the breast. DOID:3463 ICD10CM:N60-N65 ICD10CM:N64.9 ICD9CM:610-612.99 ICD9CM:611.9 MSH:D001941 NCI:C26709 SNOMEDCT_US_2015_03_01:155946009 SNOMEDCT_US_2015_03_01:155962003 SNOMEDCT_US_2015_03_01:155966000 SNOMEDCT_US_2015_03_01:198129001 SNOMEDCT_US_2015_03_01:198566004 SNOMEDCT_US_2015_03_01:266647006 SNOMEDCT_US_2015_03_01:79604008 UMLS_CUI:C0006145 disease_ontology A thoracic disease that is located_in the breast. url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html hamartoma of skin appendage DOID:3464 disease_ontology hamartoma of skin appendage (disorder) skin Appendage hamartoma true NCI2004_11_17:C5562 skin Appendage hamartoma SNOMEDCT_2005_07_31:399906000 hamartoma of skin appendage (disorder) congenital nevus of skin Congenital nevus of the skin DOID:3465 disease_ontology true Congenital nevus of the skin NCI2004_11_17:C5570 cartilaginous hamartoma Cartilagenous hamartoma DOID:3466 cartilaginous hamartoma (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:23604003 cartilaginous hamartoma (morphologic abnormality) Cartilagenous hamartoma NCI2004_11_17:C40424 mesenchymal hamartoma DOID:3467 disease_ontology mesenchymal hamartoma (morphologic abnormality) true SNOMEDCT_2005_07_31:80656004 mesenchymal hamartoma (morphologic abnormality) hamartoma of central nervous system DOID:3470 disease_ontology hamartoma of the CNS true NCI2004_11_17:C5509 hamartoma of the CNS hamartoma of lung DOID:3472 disease_ontology hamartoma of lung (disorder) pulmonary hamartoma true SNOMEDCT_2005_07_31:254644003 hamartoma of lung (disorder) NCI2004_11_17:C3497 pulmonary hamartoma brain hamartoma DOID:3473 disease_ontology hamartoma of brain (disorder) true SNOMEDCT_2005_07_31:277369003 hamartoma of brain (disorder) Lipomatous hamartoma DOID:3476 Lipomatous hamartoma Lipomatous hamartoma (disorder) disease_ontology true Lipomatous hamartoma NCI2004_11_17:C40426 Lipomatous hamartoma (disorder) SNOMEDCT_2005_07_31:400111008 iris cancer DOID:3478 DOID:6353 MSH:D015811 NCI:C3142 NCI:C4554 SNOMEDCT_US_2015_03_01:188264002 SNOMEDCT_US_2015_03_01:231964001 UMLS_CUI:C0022079 UMLS_CUI:C0346372 disease_ontology malignant neoplasm of iris malignant neoplasm of the Iris malignant tumor of iris malignant tumor of iris (disorder) tumor of iris (disorder) tumor of the Iris SNOMEDCT_2005_07_31:231964001 tumor of iris (disorder) MTHICD9_2006:190.0 malignant neoplasm of iris NCI2004_11_17:C4554 malignant neoplasm of the Iris NCI2004_11_17:C3142 tumor of the Iris SNOMEDCT_2005_07_31:188264002 malignant tumor of iris (disorder) uveal cancer DOID:12754 DOID:3479 MSH:D014604 NCI:C3436 NCI:C6105 UMLS_CUI:C0042162 UMLS_CUI:C1334629 Uveal tumor disease_ontology malignant Uveal tumor malignant uvea neoplasm NCI2004_11_17:C6105 malignant Uveal tumor NCI2004_11_17:C3436 Uveal tumor blepharochalasis (Blepharochalasis) or (pseudoptosis) Blepharochalasis (disorder) Blepharochalasis [Ambiguous] DOID:348 ICD10CM:H02.3 ICD9CM:374.34 SNOMEDCT_US_2015_03_01:193944001 SNOMEDCT_US_2015_03_01:193962005 SNOMEDCT_US_2015_03_01:267650003 SNOMEDCT_US_2015_03_01:47704002 UMLS_CUI:C0005742 disease_ontology Blepharochalasis (disorder) SNOMEDCT_2005_07_31:47704002 (Blepharochalasis) or (pseudoptosis) SNOMEDCT_2005_07_31:193944001 Blepharochalasis [Ambiguous] SNOMEDCT_2005_07_31:267650003 uveal disease DOID:3480 MSH:D014603 NCI:C26908 SNOMEDCT_US_2015_03_01:95678007 UMLS_CUI:C0042161 Uveal disorder disease_ontology disorder of uveal tract (disorder) uvea disorder SNOMEDCT_2005_07_31:95678007 disorder of uveal tract (disorder) CSP2005:1114-9583 uvea disorder NCI2004_11_17:C26908 Uveal disorder septicemic plague A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. DOID:3481 ICD10CM:A20.7 ICD9CM:020.2 MSH:D010930 SNOMEDCT_US_2015_03_01:9012003 Septicemic plague (disorder) UMLS_CUI:C0152936 disease_ontology SNOMEDCT_2005_07_31:9012003 Septicemic plague (disorder) A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. url:http://emedicine.medscape.com/article/829233-overview#a0104 url:http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm plague A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. DOID:3482 ICD10CM:A20 ICD10CM:A20.9 ICD9CM:020 ICD9CM:020.9 MSH:D010930 NCI:C85015 SNOMEDCT_US_2015_03_01:186290009 SNOMEDCT_US_2015_03_01:187298009 SNOMEDCT_US_2015_03_01:58750007 UMLS_CUI:C0032064 disease_ontology A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. url:http://emedicine.medscape.com/article/829233-overview#a0104 Oxyurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. DOID:3485 disease_ontology true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. url:http://en.wikipedia.org/wiki/Oxyurida necrobiosis lipoidica DOID:3486 MSH:D009335 NCI:C34840 Necrobiosis lipoidica Necrobiosis lipoidica (disorder) SNOMEDCT_US_2015_03_01:156394009 SNOMEDCT_US_2015_03_01:201317009 SNOMEDCT_US_2015_03_01:201319007 SNOMEDCT_US_2015_03_01:9418005 UMLS_CUI:C0027538 disease_ontology Necrobiosis lipoidica (disorder) SNOMEDCT_2005_07_31:9418005 Necrobiosis lipoidica SNOMEDCT_2005_07_31:201319007 Necrobiosis lipoidica SNOMEDCT_2005_07_31:156394009 Necrobiosis lipoidica SNOMEDCT_2005_07_31:201317009 metabolic skin disease DOID:3487 disease_ontology true cellulitis A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. DOID:2472 DOID:3488 ICD10CM:L03.90 MSH:D002481 NCI:C26715 NCI:C34454 SNOMEDCT_US_2015_03_01:128045006 SNOMEDCT_US_2015_03_01:156313004 SNOMEDCT_US_2015_03_01:156317003 SNOMEDCT_US_2015_03_01:191132005 SNOMEDCT_US_2015_03_01:200693005 SNOMEDCT_US_2015_03_01:267833003 SNOMEDCT_US_2015_03_01:385627004 SNOMEDCT_US_2015_03_01:62837005 SNOMEDCT_US_2015_03_01:74276003 UMLS_CUI:C0007642 UMLS_CUI:C0007646 disease_ontology A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. url:http://en.wikipedia.org/wiki/Cellulitis systemic mastocytosis DOID:349 MSH:D034721 NCI:C9235 SMCD - systemic mast cell disease SNOMEDCT_US_2015_03_01:123310005 SNOMEDCT_US_2015_03_01:397016004 SNOMEDCT_US_2015_03_01:50150000 UMLS_CUI:C0221013 disease_ontology systemic tissue mast cell disease SMCD - systemic mast cell disease SNOMEDCT_2005_07_31:397016004 MTHICD9_2006:202.6 systemic tissue mast cell disease Noonan syndrome DOID:3490 ICD10CM:Q87.1 MSH:D009634 NCI:C34854 NCI:C75459 OMIM mapping confirmed by DO. [SN]. OMIM:163950 OMIM:609942 OMIM:610733 OMIM:611553 OMIM:613224 OMIM:613706 SNOMEDCT_US_2015_03_01:205684007 SNOMEDCT_US_2015_03_01:205794007 SNOMEDCT_US_2015_03_01:205824006 SNOMEDCT_US_2015_03_01:88327006 Turner's phenotype, karyotype normal (disorder) UMLS_CUI:C0028326 disease_ontology SNOMEDCT_2005_07_31:205684007 Turner's phenotype, karyotype normal (disorder) Turner syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome NOS Bonnevie-Ullrich syndrome NOS (disorder) DOID:3491 DOID:5448 Gonadal dysgenesis - Turner ICD10CM:Q96 ICD10CM:Q96.0 ICD10CM:Q96.9 Karyotype 45, X MSH:D014424 Monosomy X NCI:C26900 NCI:C34434 NCI:C36630 NCI:C85210 No OMIM mapping, confirmed by DO. [LS]. SNOMEDCT_US_2015_03_01:157020008 SNOMEDCT_US_2015_03_01:205685008 SNOMEDCT_US_2015_03_01:205691005 SNOMEDCT_US_2015_03_01:254279009 SNOMEDCT_US_2015_03_01:268299006 SNOMEDCT_US_2015_03_01:268356004 SNOMEDCT_US_2015_03_01:38804009 Turner syndrome (disorder) Turner's syndrome NOS Turner's syndrome NOS (disorder) UMLS_CUI:C0041408 UMLS_CUI:C1527168 XO syndrome disease_ontology monosomy X syndrome SNOMEDCT_2005_07_31:38804009 Turner syndrome (disorder) MTHICD9_2006:758.6 XO syndrome Monosomy X NCI2004_11_17:C36630 Karyotype 45, X SNOMEDCT_2005_07_31:205685008 SNOMEDCT_2005_07_31:205691005 Turner's syndrome NOS Bonnevie-Ullrich syndrome NOS (disorder) SNOMEDCT_2005_07_31:254279009 Bonnevie-Ullrich syndrome SNOMEDCT_2005_07_31:38804009 CSP2005:1254-8447 monosomy X syndrome Gonadal dysgenesis - Turner SNOMEDCT_2005_07_31:157020008 SNOMEDCT_2005_07_31:268299006 Turner's syndrome NOS (disorder) Gonadal dysgenesis - Turner SNOMEDCT_2005_07_31:268356004 Bonnevie-Ullrich syndrome NOS SNOMEDCT_2005_07_31:205691005 mixed connective tissue disease A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. Connective tissue disease overlap syndrome (disorder) DOID:3492 ICD10CM:M35.1 MSH:D008947 NCI:C84892 SNOMEDCT_US_2015_03_01:33110008 SNOMEDCT_US_2015_03_01:398021003 SNOMEDCT_US_2015_03_01:398049005 UMLS_CUI:C0026272 disease_ontology mixed collagen vascular disease (disorder) Connective tissue disease overlap syndrome (disorder) SNOMEDCT_2005_07_31:398021003 SNOMEDCT_2005_07_31:33110008 mixed collagen vascular disease (disorder) A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html SNOMEDCT_2005_07_31:398049005 mixed collagen vascular disease (disorder) signet ring cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. DOID:3493 MSH:D018279 NCI:C3774 SNOMEDCT_US_2015_03_01:189701002 SNOMEDCT_US_2015_03_01:189702009 SNOMEDCT_US_2015_03_01:87737001 Signet Ring cell adenocarcinoma Signet ring carcinoma NOS (morphologic abnormality) Signet ring cell carcinoma Signet ring cell carcinoma (morphologic abnormality) UMLS_CUI:C0206696 disease_ontology SNOMEDCT_2005_07_31:87737001 Signet ring cell carcinoma (morphologic abnormality) NCI2004_11_17:C3774 Signet Ring cell adenocarcinoma SNOMEDCT_2005_07_31:189701002 Signet ring cell carcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. url:http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma SNOMEDCT_2005_07_31:189702009 Signet ring carcinoma NOS (morphologic abnormality) bile duct signet ring cell carcinoma DOID:3494 NCI:C5776 UMLS_CUI:C0861859 bile duct Signet Ring cell carcinoma disease_ontology NCI2004_11_17:C5776 bile duct Signet Ring cell carcinoma extrahepatic bile duct adenocarcinoma An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. DOID:3495 NCI:C7975 UMLS_CUI:C0279659 adenocarcinoma of extrahepatic bile duct adenocarcinoma of the extrahepatic bile duct disease_ontology An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C7975 adenocarcinoma of extrahepatic bile duct pancreatic signet ring cell adenocarcinoma DOID:3497 NCI:C5720 Signet Ring cell carcinoma of pancreas UMLS_CUI:C1335317 disease_ontology pancreatic signet ring cell carcinoma NCI2004_11_17:C5720 Signet Ring cell carcinoma of pancreas pancreatic ductal adenocarcinoma A pancreas adenocarcinoma that derives_from pancreatic duct cells. DOID:3498 NCI:C9120 UMLS_CUI:C1335302 disease_ontology ductal adenocarcinoma of the pancreas NCI2004_11_17:C9120 ductal adenocarcinoma of the pancreas A pancreas adenocarcinoma that derives_from pancreatic duct cells. url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma url:http://en.wikipedia.org/wiki/Pancreatic_cancer gallbladder signet ring cell adenocarcinoma DOID:3499 NCI:C5745 Signet Ring cell carcinoma of the gallbladder UMLS_CUI:C1333758 disease_ontology NCI2004_11_17:C5745 Signet Ring cell carcinoma of the gallbladder mastocytosis DOID:350 ICD10CM:Q82.2 MSH:D008415 NCI:C84269 OMIM mapping confirmed by DO. [LS]. OMIM:154800 SNOMEDCT_US_2015_03_01:125541005 SNOMEDCT_US_2015_03_01:397007003 SNOMEDCT_US_2015_03_01:78745000 UMLS_CUI:C0024899 disease_ontology mast cell hyperplasia CSP2005:4006-0061 mast cell hyperplasia gallbladder adenocarcinoma A gallbladder carcinoma that derives_from epithelial cells of glandular origin. DOID:3500 NCI:C9166 UMLS_CUI:C0279651 adenocarcinoma of the gallbladder disease_ontology NCI2004_11_17:C9166 adenocarcinoma of the gallbladder A gallbladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ampullary signet ring cell adenocarcinoma DOID:3501 NCI:C6656 UMLS_CUI:C1332249 ampullary signet ring cell carcinoma disease_ontology ampulla of Vater adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. DOID:3502 NCI:C6650 UMLS_CUI:C1332243 adenocarcinoma of ampulla of vater ampullary adenocarcinoma disease_ontology NCI2004_11_17:C6650 ampullary adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma breast signet ring cell adenocarcinoma DOID:3503 Mammary Signet Ring cell carcinoma NCI:C5175 UMLS_CUI:C1335964 disease_ontology signet ring cell carcinoma of breast Mammary Signet Ring cell carcinoma NCI2004_11_17:C5175 prostate signet ring cell adenocarcinoma DOID:3504 NCI:C5535 Signet Ring cell carcinoma of prostate UMLS_CUI:C1335520 disease_ontology prostate signet ring cell carcinoma NCI2004_11_17:C5535 Signet Ring cell carcinoma of prostate dermatofibrosarcoma protuberans A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. DOID:3507 MSH:C538219 added from NeuroDevNet [WAK]. MSH:D018223 SNOMEDCT_US_2015_03_01:134160009 SNOMEDCT_US_2015_03_01:276799004 SNOMEDCT_US_2015_03_01:302844005 SNOMEDCT_US_2015_03_01:76594008 UMLS_CUI:C0206647 disease_ontology A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. url:http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans url:http://www.cancer.gov/dictionary?CdrID=44276 stricture or kinking of ureter DOID:3508 ICD9CM:593.3 UMLS_CUI:C0156261 disease_ontology neurofibrosarcoma DOID:3512 MSH:D018319 Neurosarcoma [obs] SNOMEDCT_US_2015_03_01:19897006 SNOMEDCT_US_2015_03_01:404037002 UMLS_CUI:C0206729 disease_ontology Neurosarcoma [obs] SNOMEDCT_2005_07_31:19897006 adult fibrosarcoma DOID:3516 NCI:C7809 UMLS_CUI:C0278595 disease_ontology conventional fibrosarcoma DOID:3517 NCI:C9429 UMLS_CUI:C1333156 disease_ontology non-metastatic fibrosarcoma DOID:3519 disease_ontology true pediatric fibrosarcoma DOID:3520 NCI:C8088 UMLS_CUI:C0279981 disease_ontology childhood soft tissue sarcoma A sarcoma that affects children and is located_in the soft tissues of the body. DOID:3521 disease_ontology pediatric sarcoma of the soft tissue true A sarcoma that affects children and is located_in the soft tissues of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient NCI2004_11_17:C7715 pediatric sarcoma of the soft tissue lateral medullary syndrome DOID:3522 ICD10CM:G46.3 MSH:D014854 NCI:C84807 Posterior inferior cerebellar artery syndrome (disorder) SNOMEDCT_US_2015_03_01:195193009 SNOMEDCT_US_2015_03_01:78569004 UMLS_CUI:C0043019 Wallenberg syndrome disease_ontology Posterior inferior cerebellar artery syndrome (disorder) SNOMEDCT_2005_07_31:78569004 SNOMEDCT_2005_07_31:195193009 Wallenberg syndrome brain stem infarction Brainstem infarction Brainstem infarction NOS Brainstem infarction NOS (disorder) DOID:3523 MSH:D020526 SNOMEDCT_US_2015_03_01:195191006 SNOMEDCT_US_2015_03_01:195192004 SNOMEDCT_US_2015_03_01:230697005 SNOMEDCT_US_2015_03_01:95457000 UMLS_CUI:C0521542 brain stem infarction (disorder) disease_ontology SNOMEDCT_2005_07_31:95457000 brain stem infarction (disorder) Brainstem infarction NOS (disorder) SNOMEDCT_2005_07_31:230697005 Brainstem infarction NOS SNOMEDCT_2005_07_31:195191006 Brainstem infarction SNOMEDCT_2005_07_31:195192004 middle cerebral artery infarction DOID:3525 MSH:D020244 UMLS_CUI:C0740392 disease_ontology cerebral infarction CVA - Cerebral infarction Cerebral infarct Cerebral infarction Cerebral infarction NOS Cerebral infarction NOS (disorder) DOID:3526 ICD10CM:I63 ICD10CM:I63.9 MSH:D002544 NCI:C50486 SNOMEDCT_US_2015_03_01:155405006 SNOMEDCT_US_2015_03_01:195188006 SNOMEDCT_US_2015_03_01:195191006 SNOMEDCT_US_2015_03_01:20059004 SNOMEDCT_US_2015_03_01:266256009 SNOMEDCT_US_2015_03_01:266315008 SNOMEDCT_US_2015_03_01:432504007 UMLS_CUI:C0007785 disease_ontology Cerebral infarction NOS (disorder) SNOMEDCT_2005_07_31:266256009 Cerebral infarction NOS SNOMEDCT_2005_07_31:195191006 CVA - Cerebral infarction SNOMEDCT_2005_07_31:20059004 Cerebral infarct SNOMEDCT_2005_07_31:155405006 Cerebral infarction SNOMEDCT_2005_07_31:195188006 Cerebral infarct SNOMEDCT_2005_07_31:266315008 cerebral arterial disease DOID:3527 MSH:D002539 UMLS_CUI:C0007774 disease_ontology anterior cerebral artery infarction DOID:3528 MSH:D020243 UMLS_CUI:C0751843 disease_ontology central core myopathy DOID:3529 ICD10CM:G71.2 MSH:D020512 NCI:C83010 OMIM mapping confirmed by DO. [SN]. OMIM:117000 SNOMEDCT_US_2015_03_01:43152001 UMLS_CUI:C0751951 central core disease central core disease (disorder) disease_ontology MTHICD9_2006:359.0 central core disease SNOMEDCT_2005_07_31:43152001 central core disease (disorder) chronic wasting disease DOID:3530 MSH:D034081 UMLS_CUI:C1135993 disease_ontology peste des petits ruminants infectious disease A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. DOID:3532 Goat plague Ovine rinderpest PPR Pseudorinderpest Stomatitis-Pneumoenteritis Syndrome disease_ontology true A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf PPR SNOMEDCT_2005_07_31:13261002 Morbillivirus infectious disease A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. DOID:3533 disease_ontology true A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. url:http://en.wikipedia.org/wiki/Morbillivirus Lafora disease DOID:3534 Lafora Progressive Myoclonic Epilepsy Lafora disease (disorder) Lafora's disease MSH:D020192 MYOCLONIC EPILEPSY OF LAFORA NCI:C84804 OMIM mapping confirmed by DO. [SN]. OMIM:254780 SNOMEDCT_US_2015_03_01:230425004 UMLS_CUI:C0751783 disease_ontology Lafora disease (disorder) SNOMEDCT_2005_07_31:230425004 CSP2005:0485-7984 Lafora's disease Unverricht-Lundborg syndrome DOID:3535 MSH:D020194 OMIM mapping confirmed by DO. [LS]. OMIM:254800 SNOMEDCT_US_2015_03_01:192844008 SNOMEDCT_US_2015_03_01:192847001 SNOMEDCT_US_2015_03_01:230423006 SNOMEDCT_US_2015_03_01:230424000 SNOMEDCT_US_2015_03_01:89480000 UMLS_CUI:C0751785 Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease disease_ontology CSP2005:0485-7984 Unverricht's disease SNOMEDCT_2005_07_31:192847001 Unverricht - Lundborg disease SNOMEDCT_2005_07_31:89480000 Unverricht-Lundborg disease choroid plexus cancer A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. DOID:3540 MSH:D016545 NCI:C3473 SNOMEDCT_US_2015_03_01:254942002 UMLS_CUI:C0085138 choroid plexus neoplasm disease_ontology tumor of choroid plexus (disorder) tumor of the Choroid Plexus SNOMEDCT_2005_07_31:254942002 tumor of choroid plexus (disorder) A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. url:http://en.wikipedia.org/wiki/Choroid_plexus NCI2004_11_17:C3473 tumor of the Choroid Plexus cerebral ventricle cancer A cerebrum cancer that is located_in the cerebral ventricles. DOID:10856 DOID:3541 ICD10CM:C71.5 ICD9CM:191.5 Intraventricular tumor of brain MSH:D002551 NCI:C2937 SNOMEDCT_US_2015_03_01:126958000 SNOMEDCT_US_2015_03_01:188294008 SNOMEDCT_US_2015_03_01:363471001 SNOMEDCT_US_2015_03_01:93748005 UMLS_CUI:C0007798 UMLS_CUI:C0346906 cerebral ventricle neoplasm disease_ontology A cerebrum cancer that is located_in the cerebral ventricles. url:http://en.wikipedia.org/wiki/Ventricular_system CSP2005:2006-2736 cerebral ventricle neoplasm Intraventricular tumor of brain NCI2004_11_17:C2937 adult choroid plexus cancer DOID:3542 NCI:C8568 UMLS_CUI:C0796430 adult choroid plexus tumor disease_ontology neoplasm of the adult Choroid Plexus NCI2004_11_17:C8568 neoplasm of the adult Choroid Plexus atypical choroid plexus papilloma Atypical Choroid Plexus papilloma Atypical choroid plexus papilloma (morphologic abnormality) DOID:3544 NCI:C53686 SNOMEDCT_US_2015_03_01:128904001 UMLS_CUI:C1266176 disease_ontology Atypical Choroid Plexus papilloma NCI2004_11_17:C8382 Atypical choroid plexus papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:128904001 childhood choroid plexus cancer DOID:3545 NCI:C42080 UMLS_CUI:C0280623 childhood choroid plexus neoplasm disease_ontology somatosensory disorder DOID:3546 disease_ontology true mast-cell sarcoma DOID:355 ICD10CM:C96.2 ICD9CM:202.6 MSH:D012515 NCI:C9348 SNOMEDCT_US_2015_03_01:118615008 SNOMEDCT_US_2015_03_01:13583002 SNOMEDCT_US_2015_03_01:188660004 SNOMEDCT_US_2015_03_01:188661000 SNOMEDCT_US_2015_03_01:188670002 SNOMEDCT_US_2015_03_01:307591004 SNOMEDCT_US_2015_03_01:397010005 UMLS_CUI:C0036221 disease_ontology superior mesenteric artery syndrome DOID:3557 MSH:D013478 NCI:C85175 SNOMEDCT_US_2015_03_01:197006009 SNOMEDCT_US_2015_03_01:24988007 Superior mesenteric artery syndrome Superior mesenteric artery syndrome (disorder) UMLS_CUI:C0038828 disease_ontology SNOMEDCT_2005_07_31:24988007 Superior mesenteric artery syndrome MTHICD9_2006:557.1 Superior mesenteric artery syndrome SNOMEDCT_2005_07_31:197006009 Superior mesenteric artery syndrome (disorder) duodenal obstruction DOID:3558 ICD10CM:K31.5 MSH:D004380 NCI:C79548 SNOMEDCT_US_2015_03_01:95532008 UMLS_CUI:C0013292 disease_ontology pseudomyxoma peritonei An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. DOID:3559 ICD10:C78.6 MSH:D011553 NCI:C3345 Pseudomyxoma peritonei (disorder) Pseudomyxoma peritonei (morphologic abnormality) SNOMEDCT_US_2015_03_01:112679004 SNOMEDCT_US_2015_03_01:307601000 UMLS_CUI:C0033822 disease_ontology mucinous Ascites Pseudomyxoma peritonei (morphologic abnormality) SNOMEDCT_2005_07_31:112679004 An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. url:http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei url:http://www.cancer.gov/dictionary?CdrID=44256 url:http://www.ncbi.nlm.nih.gov/pubmed/14567019 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract NCI2004_11_17:C3345 mucinous Ascites Pseudomyxoma peritonei (disorder) SNOMEDCT_2005_07_31:307601000 intrathoracic lymph node mast cell malignancy DOID:356 Mast cell malignancy of intrathoracic lymph nodes (disorder) disease_ontology malignant mast cell tumors involving intrathoracic lymph nodes true Mast cell malignancy of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188663002 ICD9CM_2006:202.62 malignant mast cell tumors involving intrathoracic lymph nodes meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges. DOID:1137 DOID:3554 DOID:3565 DOID:3567 DOID:4750 ICD10CM:D32.9 MSH:D008577 MSH:D008579 NCI:C3229 NCI:C3230 NCI:C4656 NCI:C6971 NCI:C7048 SNOMEDCT_US_2015_03_01:126965008 SNOMEDCT_US_2015_03_01:127579001 SNOMEDCT_US_2015_03_01:134307003 SNOMEDCT_US_2015_03_01:154621002 SNOMEDCT_US_2015_03_01:189940004 SNOMEDCT_US_2015_03_01:189941000 SNOMEDCT_US_2015_03_01:189945009 SNOMEDCT_US_2015_03_01:269643009 SNOMEDCT_US_2015_03_01:302820008 SNOMEDCT_US_2015_03_01:393566004 UMLS_CUI:C0025284 UMLS_CUI:C0025286 UMLS_CUI:C0349604 UMLS_CUI:C1334698 UMLS_CUI:C1336537 disease_ontology intracranial meningioma meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor supratentorial meningioma NCI2004_11_17:C6971 primary Meningeal tumor A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges. url:http://en.wikipedia.org/wiki/Meningioma NCI2004_11_17:C3229 neoplasm of the meninges viral hemorrhagic septicemia A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. DOID:3568 Egtved Disease disease_ontology true A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. url:http://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia upper limb lymph node mast cell malignancy DOID:357 Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) disease_ontology malignant mast cell tumors involving lymph nodes of axilla and upper limb true Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188665009 ICD9CM_2006:202.64 malignant mast cell tumors involving lymph nodes of axilla and upper limb liver cancer A gastrointestinal system cancer that is located_in the liver. Ca liver - primary (disorder) DOID:12300 DOID:269 DOID:3571 DOID:7330 DOID:915 DOID:919 ICD10CM:C22.0 ICD10CM:C22.9 ICD9CM:155.0 ICD9CM:155.2 MSH:D008113 NCI:C34803 NCI:C7692 Resectable malignant neoplasm of Liver SNOMEDCT_US_2015_03_01:126851005 SNOMEDCT_US_2015_03_01:154470007 SNOMEDCT_US_2015_03_01:187768001 SNOMEDCT_US_2015_03_01:187771009 SNOMEDCT_US_2015_03_01:187779006 SNOMEDCT_US_2015_03_01:269548006 SNOMEDCT_US_2015_03_01:363361004 SNOMEDCT_US_2015_03_01:93870000 SNOMEDCT_US_2015_03_01:95214007 UMLS_CUI:C0023903 UMLS_CUI:C0024620 UMLS_CUI:C0345904 UMLS_CUI:C0854795 ca liver - primary disease_ontology hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver (disorder) malignant neoplasm of liver unspecified (disorder) malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver (disorder) neoplasm of liver (disorder) non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of Liver primary malignant neoplasm of liver primary malignant neoplasm of liver (disorder) primary malignant neoplasm of liver NOS (disorder) resectable malignant neoplasm of the liver SNOMEDCT_2005_07_31:187771009 primary malignant neoplasm of liver NOS (disorder) SNOMEDCT_2005_07_31:93870000 malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:187779006 malignant neoplasm of liver unspecified (disorder) SNOMEDCT_2005_07_31:95214007 primary malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:187768001 SNOMEDCT_2005_07_31:93870000 primary malignant neoplasm of liver A gastrointestinal system cancer that is located_in the liver. url:http://en.wikipedia.org/wiki/Liver NCI2004_11_17:C34803 primary malignant neoplasm of Liver ICD9CM_2006:155.0 malignant neoplasm of liver, primary SNOMEDCT_2005_07_31:126851005 neoplasm of liver (disorder) Ca liver - primary (disorder) SNOMEDCT_2005_07_31:269548006 CSP2005:2003-2810 hepatic neoplasm ICD9CM_2006:155.2 malignant neoplasm of liver, not specified as primary or secondary NCI2004_11_17:C7692 Resectable malignant neoplasm of Liver CSP2005:2003-2810 hepatic cancer SNOMEDCT_2005_07_31:363361004 malignant tumor of liver (disorder) intracranial sinus thrombosis DOID:3572 MSH:D012851 UMLS_CUI:C0037198 disease_ontology lateral sinus thrombosis DOID:3574 MSH:D020227 SNOMEDCT_US_2015_03_01:192761004 SNOMEDCT_US_2015_03_01:21258007 Thrombosis of lateral venous sinus (disorder) Thrombosis transverse sinus (disorder) UMLS_CUI:C0270639 disease_ontology SNOMEDCT_2005_07_31:21258007 Thrombosis of lateral venous sinus (disorder) SNOMEDCT_2005_07_31:192761004 Thrombosis transverse sinus (disorder) cavernous sinus thrombosis DOID:3575 MSH:D020226 SNOMEDCT_US_2015_03_01:89980009 Thrombosis of cavernous venous sinus (disorder) UMLS_CUI:C0238454 disease_ontology SNOMEDCT_2005_07_31:89980009 Thrombosis of cavernous venous sinus (disorder) sagittal sinus thrombosis DOID:3576 MSH:D020225 SNOMEDCT_US_2015_03_01:192760003 SNOMEDCT_US_2015_03_01:70607008 Thrombosis of superior longitudinal sinus (disorder) Thrombosis of superior sagittal sinus (disorder) UMLS_CUI:C0338575 disease_ontology SNOMEDCT_2005_07_31:70607008 Thrombosis of superior sagittal sinus (disorder) SNOMEDCT_2005_07_31:192760003 Thrombosis of superior longitudinal sinus (disorder) Sertoli cell tumor DOID:3577 MSH:D012707 NCI:C39976 SNOMEDCT_US_2015_03_01:128857001 SNOMEDCT_US_2015_03_01:189738002 SNOMEDCT_US_2015_03_01:89089007 UMLS_CUI:C0036769 disease_ontology tubular androblastoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189738002 tubular androblastoma NOS (morphologic abnormality) ovarian gonadoblastoma DOID:3578 NCI:C39985 UMLS_CUI:C1518716 disease_ontology testicular gonadoblastoma DOID:3579 NCI:C39911 UMLS_CUI:C1515283 disease_ontology testicular mixed germ cell-sex cord-stromal neoplasm DOID:3580 disease_ontology testicular mixed germ cell-Sex Cord tumor true NCI2004_11_17:C7322 testicular mixed germ cell-Sex Cord tumor enterotoxemia DOID:3583 disease_ontology true commensal Clostridium infectious disease DOID:3584 clostridial infection disease_ontology true CSP2005:0368-2583 clostridial infection Puerperal pyrexia of unknown origin DOID:3586 disease_ontology true pancreatic ductal carcinoma A pancreatic carcinoma located_in the pancreatic duct. DOID:10023 DOID:3587 ICD10CM:C25.3 ICD9CM:157.3 MSH:D021441 SNOMEDCT_US_2015_03_01:187793004 SNOMEDCT_US_2015_03_01:93939009 UMLS_CUI:C0153461 UMLS_CUI:C0887833 disease_ontology malignant neoplasm of duct of Wirsung pancreatic duct cancer A pancreatic carcinoma located_in the pancreatic duct. url:http://en.wikipedia.org/wiki/Pancreatic_cancer url:http://en.wikipedia.org/wiki/Pancreatic_duct MTHICD9_2006:157.3 malignant neoplasm of duct of Wirsung Poor Prognosis metastatic Gestational Trophoblastic tumor DOID:3589 disease_ontology true gestational trophoblastic neoplasm DOID:14071 DOID:3590 DOID:3598 ICD10CM:O01 ICD10CM:O01.0 ICD10CM:O01.9 ICD9CM:630 MSH:D006828 MSH:D031901 NCI:C3110 NCI:C4699 NCI:C7887 OMIM mapping confirmed by DO. [SN]. OMIM:231090 SNOMEDCT_US_2015_03_01:123300001 SNOMEDCT_US_2015_03_01:156085008 SNOMEDCT_US_2015_03_01:189856005 SNOMEDCT_US_2015_03_01:198610008 SNOMEDCT_US_2015_03_01:198611007 SNOMEDCT_US_2015_03_01:235323008 SNOMEDCT_US_2015_03_01:236118006 SNOMEDCT_US_2015_03_01:237251001 SNOMEDCT_US_2015_03_01:367455000 SNOMEDCT_US_2015_03_01:41491009 SNOMEDCT_US_2015_03_01:416441004 SNOMEDCT_US_2015_03_01:417044008 SNOMEDCT_US_2015_03_01:417475006 SNOMEDCT_US_2015_03_01:44782008 SNOMEDCT_US_2015_03_01:48430004 SNOMEDCT_US_2015_03_01:609517002 SNOMEDCT_US_2015_03_01:609519004 UMLS_CUI:C0020217 UMLS_CUI:C0278796 UMLS_CUI:C1135868 disease_ontology gestational trophoblastic neoplasia hydatidiform mole molar pregnancy NCI2004_11_17:C4699 gestational trophoblastic neoplasia CSP2005:2403-0989 NCI2004_11_17:C3110 molar pregnancy Nonmetastatic Gestational Trophoblastic tumor DOID:3591 disease_ontology true epithelioid trophoblastic tumor DOID:3593 NCI:C6900 SNOMEDCT_US_2015_03_01:128767001 SNOMEDCT_US_2015_03_01:609515005 UMLS_CUI:C1266159 disease_ontology choriocarcinoma Choriocarcinoma (disorder) Choriocarcinoma, no ICD-O subtype (morphologic abnormality) Chorioepithelioma Chorioepithelioma NOS DOID:3594 ICD10CM:C58 MSH:D002822 NCI:C2948 SNOMEDCT_US_2015_03_01:188188009 SNOMEDCT_US_2015_03_01:189444004 SNOMEDCT_US_2015_03_01:44769000 UMLS_CUI:C0008497 chorioepithelioma disease_ontology Chorioepithelioma NCI2004_11_17:C2948 Choriocarcinoma (disorder) SNOMEDCT_2005_07_31:188188009 CSP2005:2403-0675 chorioepithelioma Choriocarcinoma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:44769000 Chorioepithelioma NOS MTHICD9_2006:181 placental site trophoblastic tumor DOID:3596 MSH:D018245 NCI:C3757 Placental site trophoblastic tumor (disorder) Placental site trophoblastic tumor (morphologic abnormality) Placental-Site Gestational Trophoblastic neoplasm SNOMEDCT_US_2015_03_01:237252008 SNOMEDCT_US_2015_03_01:75320001 UMLS_CUI:C0206666 disease_ontology NCI2004_11_17:C3757 Placental-Site Gestational Trophoblastic neoplasm Placental site trophoblastic tumor (morphologic abnormality) SNOMEDCT_2005_07_31:75320001 Placental site trophoblastic tumor (disorder) SNOMEDCT_2005_07_31:237252008 Good Prognosis metastatic Gestational Trophoblastic tumor DOID:3597 disease_ontology true toxic encephalopathy DOID:3602 MSH:D020258 NCI:C27961 Neurotoxicity (disorder) SNOMEDCT_US_2015_03_01:19466003 UMLS_CUI:C0235032 disease_ontology neurotoxicity neurotoxicity syndrome Neurotoxicity (disorder) SNOMEDCT_2005_07_31:19466003 NCI2004_11_17:C27961 neurotoxicity CSP2005:4006-0067 neurotoxicity mucinous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. DOID:3603 MSH:D018282 NCI:C3776 Pseudomucinous cystadenocarcinoma SNOMEDCT_US_2015_03_01:189692006 SNOMEDCT_US_2015_03_01:79143006 UMLS_CUI:C0206699 disease_ontology mucinous cystadenocarcinoma (morphologic abnormality) mucinous cystadenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:79143006 mucinous cystadenocarcinoma (morphologic abnormality) A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. url:http://www.wisegeek.com/what-is-a-mucinous-cystadenocarcinoma.htm NCI2004_11_17:C3776 Pseudomucinous cystadenocarcinoma SNOMEDCT_2005_07_31:189692006 mucinous cystadenocarcinoma NOS (morphologic abnormality) ovarian mucinous cystadenocarcinoma DOID:3604 NCI:C4026 Ovarian mucinous cystadenocarcinoma SNOMEDCT_US_2015_03_01:254851009 UMLS_CUI:C0279665 disease_ontology mucinous cystadenocarcinoma of ovary (disorder) NCI2004_11_17:C4026 Ovarian mucinous cystadenocarcinoma SNOMEDCT_2005_07_31:254851009 mucinous cystadenocarcinoma of ovary (disorder) ovarian cystadenocarcinoma DOID:3605 NCI:C5228 SNOMEDCT_US_2015_03_01:314191009 UMLS_CUI:C1096638 cystadenocarcinoma of ovary (disorder) cystadenocarcinoma of the Ovary disease_ontology NCI2004_11_17:C5228 cystadenocarcinoma of the Ovary SNOMEDCT_2005_07_31:314191009 cystadenocarcinoma of ovary (disorder) ovarian mucinous adenocarcinoma DOID:3606 NCI:C5243 UMLS_CUI:C1335167 disease_ontology mucinous carcinoma of Ovary NCI2004_11_17:C5243 mucinous carcinoma of Ovary appendix mucinous cystadenocarcinoma Colloidal cystadenocarcinoma of the appendix DOID:3607 NCI:C5511 UMLS_CUI:C1096639 disease_ontology Colloidal cystadenocarcinoma of the appendix NCI2004_11_17:C5511 appendix adenocarcinoma An appendix carcinoma that derives_from epithelial cells of glandular origin. Appendiceal adenocarcinoma DOID:3608 NCI:C7718 SNOMEDCT_US_2015_03_01:413445002 UMLS_CUI:C0238003 adenocarcinoma of appendix adenocarcinoma of appendix (disorder) disease_ontology An appendix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Appendiceal adenocarcinoma NCI2004_11_17:C7718 SNOMEDCT_2005_07_31:413445002 adenocarcinoma of appendix (disorder) breast mucinous cystadenocarcinoma DOID:3609 NCI:C40354 UMLS_CUI:C1511318 disease_ontology cervix endometriosis DOID:361 Endometriosis of cervix (disorder) NCI:C27623 SNOMEDCT_US_2015_03_01:61640006 UMLS_CUI:C0269107 cervical Endometriosis disease_ontology NCI2004_11_17:C27623 cervical Endometriosis Endometriosis of cervix (disorder) SNOMEDCT_2005_07_31:61640006 breast mucinous carcinoma DOID:3610 Invasive mucinous breast carcinoma NCI:C9131 SNOMEDCT_US_2015_03_01:444712000 UMLS_CUI:C1334807 disease_ontology mucinous carcinoma of breast Invasive mucinous breast carcinoma NCI2004_11_17:C9131 acute retinal necrosis syndrome DOID:3611 MSH:D015882 SNOMEDCT_US_2015_03_01:231986000 UMLS_CUI:C0035319 acute retinal necrosis (disorder) disease_ontology SNOMEDCT_2005_07_31:231986000 acute retinal necrosis (disorder) retinitis DOID:3612 ICD10CM:H30.9 MSH:D012173 SNOMEDCT_US_2015_03_01:193450000 SNOMEDCT_US_2015_03_01:35426003 SNOMEDCT_US_2015_03_01:399463004 UMLS_CUI:C0035333 disease_ontology Canavan disease CANAVAN-VAN BOGAERT-BERTRAND DISEASE DOID:3613 MSH:D017825 NCI:C84611 OMIM mapping confirmed by DO. [SN]. OMIM:271900 SNOMEDCT_US_2015_03_01:80544005 Spongy degeneration of central nervous system (disorder) UMLS_CUI:C0206307 disease_ontology SNOMEDCT_2005_07_31:80544005 Spongy degeneration of central nervous system (disorder) Kallmann syndrome DOID:3614 Hypogonadism with anosmia (disorder) ICD10CM:E23.0 Kallman syndrome Kallman's syndrome MSH:D017436 NCI:C75479 OMIM mapping confirmed by DO. [SN]. OMIM:147950 OMIM:244200 OMIM:610628 OMIM:612370 OMIM:612702 SNOMEDCT_US_2015_03_01:190559001 SNOMEDCT_US_2015_03_01:33927004 SNOMEDCT_US_2015_03_01:93559003 UMLS_CUI:C0162809 disease_ontology familial hypogonadism with anosmia Kallman syndrome SNOMEDCT_2005_07_31:33927004 CSP2005:2586-8846 familial hypogonadism with anosmia Hypogonadism with anosmia (disorder) SNOMEDCT_2005_07_31:93559003 Kallman's syndrome SNOMEDCT_2005_07_31:190559001 infiltrating angiolipoma Angiolipoma, infiltrating (morphologic abnormality) DOID:3615 Infiltrating angiolipoma NCI:C7449 SNOMEDCT_US_2015_03_01:189781004 SNOMEDCT_US_2015_03_01:24045002 UMLS_CUI:C1305256 disease_ontology Infiltrating angiolipoma SNOMEDCT_2005_07_31:24045002 Angiolipoma, infiltrating (morphologic abnormality) SNOMEDCT_2005_07_31:189781004 angiolipoma A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. DOID:3616 MSH:D018206 NCI:C3733 SNOMEDCT_US_2015_03_01:189780003 SNOMEDCT_US_2015_03_01:404057003 SNOMEDCT_US_2015_03_01:73219006 UMLS_CUI:C0206632 disease_ontology A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. url:http://en.wikipedia.org/wiki/Angiolipoma epidural spinal canal angiolipoma Angiolipoma of Extradural Spinal canal DOID:3617 NCI:C5424 UMLS_CUI:C1333416 disease_ontology Angiolipoma of Extradural Spinal canal NCI2004_11_17:C5424 epidural neoplasm DOID:3618 Extradural tumor MSH:D015174 NCI:C3019 UMLS_CUI:C0014536 disease_ontology Extradural tumor NCI2004_11_17:C3019 central nervous system cancer A nervous system cancer that is located_in the central nervous system. CNS neoplasm DOID:0060093 DOID:1318 DOID:3620 EFO:0000326 ICD10CM:C72.9 MSH:D016543 NCI:C4627 NCI:C9293 SNOMEDCT_US_2015_03_01:126951006 SNOMEDCT_US_2015_03_01:190135002 SNOMEDCT_US_2015_03_01:372062007 SNOMEDCT_US_2015_03_01:93744007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 central nervous system tumor central nervous system tumors disease_ontology malignant neoplasm of central nervous system, NOS malignant tumor of CNS neoplasm of central nervous system (disorder) CNS neoplasm CSP2005:2012-5421 NCI2004_11_17:C4627 malignant tumor of CNS NCI2004_11_17:C9293 central nervous system tumors SNOMEDCT_2005_07_31:93744007 malignant neoplasm of central nervous system, NOS SNOMEDCT_2005_07_31:126951006 neoplasm of central nervous system (disorder) A nervous system cancer that is located_in the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system central nervous system neuroepithelial neoplasm DOID:3621 disease_ontology true aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. Aortic aneurysm of unspecified site, ruptured Aortic aneurysm of unspecified site, ruptured (disorder) DOID:11138 DOID:3627 DOID:7682 DOID:7692 DOID:7703 ICD10CM:I71.1 ICD10CM:I71.3 ICD10CM:I71.5 ICD10CM:I71.8 ICD10CM:I71.9 ICD9CM:441.1 ICD9CM:441.3 ICD9CM:441.5 ICD9CM:441.6 MSH:D001014 MSH:D001019 NCI:C26697 NCI:C27046 NCI:C27198 NCI:C27299 Ruptured Aortic Aneurysm Ruptured Thoracic Aneurysm Ruptured abdominal Aortic Aneurysm Ruptured abdominal aortic aneurysm (disorder) Ruptured aortic aneurysm (disorder) Ruptured aortic aneurysm NOS Ruptured aortic aneurysm NOS (disorder) Ruptured thoracic aortic aneurysm (disorder) SNOMEDCT_US_2015_03_01:14336007 SNOMEDCT_US_2015_03_01:155419006 SNOMEDCT_US_2015_03_01:155423003 SNOMEDCT_US_2015_03_01:155424009 SNOMEDCT_US_2015_03_01:195258006 SNOMEDCT_US_2015_03_01:195264004 SNOMEDCT_US_2015_03_01:195265003 SNOMEDCT_US_2015_03_01:195269009 SNOMEDCT_US_2015_03_01:195615002 SNOMEDCT_US_2015_03_01:34365005 SNOMEDCT_US_2015_03_01:67362008 SNOMEDCT_US_2015_03_01:73067008 Thoracic aortic aneurysm which has ruptured (disorder) Thoracic aortic aneurysm, ruptured Thoracoabdominal aortic aneurysm, ruptured (disorder) UMLS_CUI:C0003486 UMLS_CUI:C0265010 UMLS_CUI:C0265012 UMLS_CUI:C0741160 UMLS_CUI:C1305122 abdominal aortic aneurysm, ruptured disease_ontology ruptured abdominal aortic aneurysm ruptured aortic aneurysm ruptured thoracic aortic aneurysm ruptured thoracoabdominal aortic aneurysm Aortic aneurysm of unspecified site, ruptured ICD9CM_2006:441.5 ICD9CM_2006:441.3 abdominal aortic aneurysm, ruptured Ruptured thoracic aortic aneurysm (disorder) SNOMEDCT_2005_07_31:34365005 SNOMEDCT_2005_07_31:195265003 Thoracoabdominal aortic aneurysm, ruptured (disorder) NCI2004_11_17:C27299 Ruptured Thoracic Aneurysm Ruptured aortic aneurysm (disorder) SNOMEDCT_2005_07_31:73067008 Ruptured abdominal aortic aneurysm (disorder) SNOMEDCT_2005_07_31:14336007 NCI2004_11_17:C27198 Ruptured Aortic Aneurysm Aortic aneurysm of unspecified site, ruptured (disorder) SNOMEDCT_2005_07_31:195615002 An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. url:http://en.wikipedia.org/wiki/Aortic_aneurysm SNOMEDCT_2005_07_31:195258006 Thoracic aortic aneurysm which has ruptured (disorder) Ruptured aortic aneurysm NOS SNOMEDCT_2005_07_31:155423003 Ruptured aortic aneurysm NOS (disorder) SNOMEDCT_2005_07_31:195264004 NCI2004_11_17:C27046 Ruptured abdominal Aortic Aneurysm ICD9CM_2006:441.1 Thoracic aortic aneurysm, ruptured uterine cancer A female reproductive organ cancer that is located_in the uterus. CA - cancer of uterus Ca uterus NOS DOID:363 DOID:4363 ICD10CM:C55 ICD9CM:179 MSH:D014594 NCI:C3435 NCI:C3552 SNOMEDCT_US_2015_03_01:126908007 SNOMEDCT_US_2015_03_01:156169001 SNOMEDCT_US_2015_03_01:188173004 SNOMEDCT_US_2015_03_01:269613007 SNOMEDCT_US_2015_03_01:371973000 SNOMEDCT_US_2015_03_01:93718007 SNOMEDCT_US_2015_03_01:94127009 Tumour of uterus UMLS_CUI:C0042138 UMLS_CUI:C0153567 disease_ontology malignant neoplasm of uterus (disorder) malignant uterine tumor neoplasm of uterus (disorder) uterine tumor uterus neoplasm SNOMEDCT_2005_07_31:126908007 neoplasm of uterus (disorder) CA - cancer of uterus SNOMEDCT_2005_07_31:93718007 A female reproductive organ cancer that is located_in the uterus. url:http://www.cancer.gov/dictionary?CdrID=445094 SNOMEDCT_2005_07_31:156169001 Tumour of uterus NCI2004_11_17:C3435 uterine tumor NCI2004_11_17:C3552 malignant uterine tumor Ca uterus NOS SNOMEDCT_2005_07_31:269613007 SNOMEDCT_2005_07_31:371973000 malignant neoplasm of uterus (disorder) CSP2005:2016-1566 uterus neoplasm beta-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. Beta-D-mannosidosis (disorder) DOID:3633 MSH:D044905 NCI:C84596 OMIM mapping confirmed by DO. [SN]. OMIM:248510 SNOMEDCT_US_2015_03_01:238047006 UMLS_CUI:C0342849 beta-mannosidase deficiency disease_ontology lysosomal beta-mannosidase deficiency Beta-D-mannosidosis (disorder) SNOMEDCT_2005_07_31:238047006 A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. url:http://en.wikipedia.org/wiki/Beta-mannosidosis congenital myasthenic syndrome A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). DOID:3635 MSH:D020294 NCI:C84647 OMIM:254210 OMIM:254300 OMIM:601462 OMIM:605809 OMIM:608930 OMIM:608931 OMIM:610542 OMIM:614198 OMIM:614750 OMIM:615120 OMIM:616040 OMIM:616227 OMIM:616228 OMIM:616304 OMIM:616313 OMIM:616314 OMIM:616321 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:616325 OMIM:616326 OMIM:616330 ORDO:590 SNOMEDCT_US_2015_03_01:230672006 UMLS_CUI:C0751882 Xref MGI. disease_ontology familial infantile myasthenia 1 familial limb-girdle myasthenia A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 commensal Desulfovibrionaceae infectious disease DOID:3636 disease_ontology true childhood spinal cord tumor DOID:3637 NCI:C9234 UMLS_CUI:C1134515 childhood Spinal Cord neoplasm disease_ontology NCI2004_11_17:C9234 childhood Spinal Cord neoplasm spinal cord intramedullary teratoma DOID:3639 Intramedullary Spinal teratoma NCI:C5428 UMLS_CUI:C1334259 disease_ontology Intramedullary Spinal teratoma NCI2004_11_17:C5428 spontaneous rupture of bladder DOID:364 Nontraumatic rupture of bladder (disorder) [Ambiguous] Rupture of bladder, nontraumatic disease_ontology spontaneous rupture of bladder (disorder) true Nontraumatic rupture of bladder (disorder) [Ambiguous] SNOMEDCT_2005_07_31:840001 SNOMEDCT_2005_07_31:197881002 spontaneous rupture of bladder (disorder) ICD9CM_2006:596.6 Rupture of bladder, nontraumatic central nervous system teratoma CNS teratoma DOID:3640 NCI:C5441 UMLS_CUI:C1332895 disease_ontology CNS teratoma NCI2004_11_17:C5441 conus medullaris neoplasm DOID:3641 NCI:C5443 UMLS_CUI:C1333153 disease_ontology tumor of Conus Medullaris NCI2004_11_17:C5443 tumor of Conus Medullaris empty sella syndrome DOID:3642 Empty sella syndrome Empty sella syndrome (disorder) MSH:D004652 NCI:C84686 SNOMEDCT_US_2015_03_01:190489005 SNOMEDCT_US_2015_03_01:237722004 SNOMEDCT_US_2015_03_01:393569006 UMLS_CUI:C0014008 disease_ontology Empty sella syndrome SNOMEDCT_2005_07_31:393569006 Empty sella syndrome SNOMEDCT_2005_07_31:190489005 Empty sella syndrome (disorder) SNOMEDCT_2005_07_31:237722004 sella turcica neoplasm DOID:3643 NCI:C4944 UMLS_CUI:C0748616 disease_ontology tumor of Sella Turcica NCI2004_11_17:C4944 tumor of Sella Turcica hypothalamic neoplasm DOID:3644 MSH:D007029 NCI:C3129 SNOMEDCT_US_2015_03_01:254968009 UMLS_CUI:C0020659 disease_ontology neoplasm of the Hypothalamus tumor of hypothalamus (disorder) SNOMEDCT_2005_07_31:254968009 tumor of hypothalamus (disorder) NCI2004_11_17:C3129 neoplasm of the Hypothalamus necrosis of pituitary DOID:3646 NCI:C27066 Pituitary necrosis SNOMEDCT_US_2015_03_01:59572000 UMLS_CUI:C0271558 disease_ontology necrosis of pituitary (disorder) NCI2004_11_17:C27066 Pituitary necrosis SNOMEDCT_2005_07_31:59572000 necrosis of pituitary (disorder) inborn errors pyruvate metabolism DOID:3648 Inborn error of pyruvate metabolism (disorder) disease_ontology true Inborn error of pyruvate metabolism (disorder) SNOMEDCT_2005_07_31:53210006 pyruvate decarboxylase deficiency A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. DOID:3649 ICD10CM:E74.4 MSH:D015325 NCI:C103968 OMIM:245348 OMIM:245349 OMIM:312170 OMIM:608782 OMIM:614111 ORDO:79243 SNOMEDCT_US_2015_03_01:124160001 SNOMEDCT_US_2015_03_01:190761008 SNOMEDCT_US_2015_03_01:46683007 UMLS_CUI:C0034345 Xref MGI. OMIM mapping confirmed by DO. [SN]. deficiency of pyruvic dehydrogenase disease_ontology pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency SNOMEDCT_2005_07_31:46683007 deficiency of pyruvic dehydrogenase SNOMEDCT_2005_07_31:190761008 pyruvate dehydrogenase deficiency SNOMEDCT_2005_07_31:124160001 deficiency of pyruvic dehydrogenase A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. url:http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency url:http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract bladder disease A urinary system disease that is located_in the bladder. DOID:365 ICD10CM:N32.9 ICD9CM:596.9 MSH:D001745 NCI:C2900 SNOMEDCT_US_2015_03_01:155886002 SNOMEDCT_US_2015_03_01:155890000 SNOMEDCT_US_2015_03_01:197897007 SNOMEDCT_US_2015_03_01:266630005 SNOMEDCT_US_2015_03_01:42643001 UMLS_CUI:C0005686 Urinary Bladder Disease disease_ontology A urinary system disease that is located_in the bladder. url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html lactic acidosis An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. DOID:3650 ICD10CM:E87.2 MSH:D000140 NCI:C98969 SNOMEDCT_US_2015_03_01:91273001 UMLS_CUI:C0001125 disease_ontology An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. url:http://en.wikipedia.org/wiki/Lactic_acidosis pyruvate carboxylase deficiency disease DOID:3651 ICD10CM:E74.4 MSH:D015324 NCI:C85040 OMIM mapping confirmed by DO. [SN]. OMIM:266150 SNOMEDCT_US_2015_03_01:124716008 SNOMEDCT_US_2015_03_01:87694001 UMLS_CUI:C0034341 deficiency of pyruvic carboxylase disease_ontology SNOMEDCT_2005_07_31:124716008 deficiency of pyruvic carboxylase SNOMEDCT_2005_07_31:87694001 deficiency of pyruvic carboxylase Leigh disease A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. DOID:3652 ICD10CM:G31.82 Infantile necrotizing encephalomyelopathy Leigh syndrome MSH:D007888 NCI:C84814 OMIM:220111 OMIM:256000 OMIM:308930 ORDO:506 SNOMEDCT_US_2015_03_01:29570005 UMLS_CUI:C0023264 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology juvenile subacute necrotizing encephalomyelopathy subacute necrotizing encephalomyelopathy CSP2005:1254-7727 subacute necrotizing encephalomyelopathy A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. url:http://en.wikipedia.org/wiki/Leigh%27s_disease url:http://ghr.nlm.nih.gov/condition/leigh-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract Infantile necrotizing encephalomyelopathy MTHICD9_2006:330.8 laboratory infectious disease DOID:3653 disease_ontology laboratory infection true CSP2005:2119-8616 laboratory infection sialuria A lysosomal storage disease characterized by increased sialic acid in the urine. DOID:3659 MSH:D029461 NCI:C85067 OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS]. OMIM:269921 OMIM:604369 SNOMEDCT_US_2015_03_01:238051008 UMLS_CUI:C0342853 disease_ontology A lysosomal storage disease characterized by increased sialic acid in the urine. url:http://en.wikipedia.org/wiki/Sialuria url:http://www.ncbi.nlm.nih.gov/books/NBK1164/ url:http://www.omim.org/entry/269921 olfactory nerve neoplasm DOID:366 NCI:C5121 SNOMEDCT_US_2015_03_01:126967000 UMLS_CUI:C0346319 disease_ontology neoplasm of olfactory nerve (disorder) tumor of Olfactory nerve SNOMEDCT_2005_07_31:126967000 neoplasm of olfactory nerve (disorder) NCI2004_11_17:C5121 tumor of Olfactory nerve wheat allergic reaction DOID:3660 MSH:D021182 SNOMEDCT_US_2015_03_01:420174000 UMLS_CUI:C0949570 disease_ontology cutaneous mastocytosis CM Cutaneous mastocytosis (disorder) DOID:3663 MSH:D034701 NCI:C7137 SNOMEDCT_US_2015_03_01:397012002 SNOMEDCT_US_2015_03_01:703827008 UMLS_CUI:C1136033 disease_ontology CM NCI2004_11_17:C7137 Cutaneous mastocytosis (disorder) SNOMEDCT_2005_07_31:397012002 mast cell neoplasm A hematologic cancer that has_material_basis_in mast cells. DOID:3664 ICD10CM:D47.0 Mast cell Proliferative disease NCI:C9295 SNOMEDCT_US_2015_03_01:127581004 SNOMEDCT_US_2015_03_01:190021001 SNOMEDCT_US_2015_03_01:414653009 SNOMEDCT_US_2015_03_01:89796001 UMLS_CUI:C0334664 disease_ontology mast cell tumor mastocytoma NCI2004_11_17:C9303 mastocytoma A hematologic cancer that has_material_basis_in mast cells. url:http://en.wikipedia.org/wiki/Mastocytoma url:http://www.cancer.gov/dictionary?CdrID=410729 Mast cell Proliferative disease NCI2004_11_17:C9295 diffuse cutaneous mastocytosis DOID:3665 Diffuse Cutaneous Mastocytosis MSH:D034701 NCI:C3218 SNOMEDCT_US_2015_03_01:703826004 UMLS_CUI:C0024901 disease_ontology Diffuse Cutaneous Mastocytosis NCI2004_11_17:C3218 cutaneous solitary mastocytoma DOID:3666 Solitary Mastocytoma of skin Solitary mastocytoma disease_ontology SNOMEDCT_2005_07_31:397013007 Solitary mastocytoma NCI2004_11_17:C7138 Solitary Mastocytoma of skin Cardiovirus infectious disease A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. DOID:3667 disease_ontology true A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. url:http://vir.sgmjournals.org/cgi/content/full/91/6/1418 Picornaviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. DOID:3668 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. url:http://en.wikipedia.org/wiki/Picornaviridae intermittent claudication Charcot's syndrome DOID:3669 ICD10CM:I73.9 Intermittent claudication Intermittent claudication (disorder) Intermittent claudication NOS MSH:D007383 SNOMEDCT_US_2015_03_01:155430009 SNOMEDCT_US_2015_03_01:195312007 SNOMEDCT_US_2015_03_01:63491006 UMLS_CUI:C0021775 disease_ontology CSP2005:0571-6915 Charcot's syndrome Intermittent claudication SNOMEDCT_2005_07_31:195312007 Intermittent claudication SNOMEDCT_2005_07_31:155430009 CSP2005:0413-3711 Charcot's syndrome Intermittent claudication (disorder) SNOMEDCT_2005_07_31:63491006 CSP2005:4000-0117 Charcot's syndrome Intermittent claudication NOS MTHICD9_2006:443.9 olfactory nerve disease DOID:367 ICD10CM:G52.0 ICD9CM:352.0 MSH:D020431 NCI:C27210 SNOMEDCT_US_2015_03_01:68982002 UMLS_CUI:C0751937 disease_ontology disorder of 1st nerve disorder of olfactory [1st] nerve disorder of olfactory nerve (disorder) ICD9CM_2006:352.0 disorder of olfactory [1st] nerve MTHICD9_2006:352.0 disorder of 1st nerve NCI2004_11_17:C27210 disorder of 1st nerve SNOMEDCT_2005_07_31:68982002 disorder of olfactory nerve (disorder) pericoronitis DOID:3671 MSH:D010497 Pericoronitis (disorder) SNOMEDCT_US_2015_03_01:22240003 UMLS_CUI:C0031055 disease_ontology Pericoronitis (disorder) SNOMEDCT_2005_07_31:22240003 rhabdoid cancer A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. DOID:3672 MSH:D018335 NCI:C3808 Rhabdoid sarcoma SNOMEDCT_US_2015_03_01:189812005 SNOMEDCT_US_2015_03_01:83118000 UMLS_CUI:C0206743 disease_ontology malignant rhabdoid tumour rhabdoid tumor Rhabdoid sarcoma SNOMEDCT_2005_07_31:189812005 NCI2004_11_17:C3808 Rhabdoid sarcoma A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. url:http://www.cancer.iu.edu/renaltumors/rhabdoid/facts/ SNOMEDCT_2005_07_31:83118000 malignant rhabdoid tumour kidney rhabdoid cancer A embryonal cancer that is located in the kidney. DOID:3674 NCI:C8715 UMLS_CUI:C0854917 disease_ontology kidney rhabdoid tumor renal Rhabdoid tumor A embryonal cancer that is located in the kidney. url:http://www.childrenshospital.org/az/Site1526/mainpageS1526P0.html NCI2004_11_17:C8715 renal Rhabdoid tumor childhood kidney neoplasm DOID:3675 NCI:C6563 UMLS_CUI:C1333003 disease_ontology pediatric renal tumor NCI2004_11_17:C6563 pediatric renal tumor pulmonary plasma cell granuloma DOID:3677 Lymphocytic pseudotumor of lung (disorder) MSH:D016726 SNOMEDCT_US_2015_03_01:1648002 SNOMEDCT_US_2015_03_01:254641006 SNOMEDCT_US_2015_03_01:707373004 Sclerosing hemangiocytoma of lung UMLS_CUI:C0085269 disease_ontology granuloma, plasma cell, pulmonary Lymphocytic pseudotumor of lung (disorder) SNOMEDCT_2005_07_31:1648002 SNOMEDCT_2005_07_31:254641006 Sclerosing hemangiocytoma of lung cerebrum cancer A supratentorial cancer that is located_in the cerebrum. DOID:368 DOID:912 ICD9CM:191.8 NCI:C4874 SNOMEDCT_US_2015_03_01:126953009 SNOMEDCT_US_2015_03_01:188300006 SNOMEDCT_US_2015_03_01:188304002 UMLS_CUI:C0153642 UMLS_CUI:C1263885 cerebral cancer disease_ontology neoplasm of cerebrum (disorder) tumor of Cerebrum NCI2004_11_17:C4874 tumor of Cerebrum SNOMEDCT_2005_07_31:126953009 neoplasm of cerebrum (disorder) A supratentorial cancer that is located_in the cerebrum. url:http://en.wikipedia.org/wiki/Cerebrum malignant neoplasm of lip, oral cavity and pharynx DOID:3680 DOID:8722 DOID:8862 DOID:8894 DOID:8952 disease_ontology malignant Oral cavity neoplasm malignant Oral neoplasm malignant Pharyngeal tumor malignant neoplasm of mouth malignant neoplasm of mouth NOS (disorder) malignant neoplasm of mouth, unspecified malignant neoplasm of oral cavity NOS malignant neoplasm of other specified mouth parts (disorder) malignant neoplasm of other specified parts of mouth malignant neoplasm of palate NOS (disorder) malignant neoplasm of palate unspecified (disorder) malignant neoplasm of palate, unspecified malignant neoplasm of pharynx malignant neoplasm of pharynx unspecified (disorder) malignant neoplasm of pharynx, NOS malignant neoplasm of pharynx, unspecified malignant neoplasm of roof of mouth malignant tumor of oral cavity (disorder) malignant tumor of palate (disorder) malignant tumor of pharynx (disorder) malignant tumor of the Palate malignant tumour of mouth true MTH:NOCODE malignant neoplasm of mouth SNOMEDCT_2005_07_31:187669001 malignant neoplasm of other specified mouth parts (disorder) NCI2004_11_17:C3530 malignant tumor of the Palate SNOMEDCT_2005_07_31:363507003 malignant tumor of pharynx (disorder) SNOMEDCT_2005_07_31:363505006 malignant tumor of oral cavity (disorder) NCI2004_11_17:C9314 malignant Oral cavity neoplasm SNOMEDCT_2005_07_31:93897007 malignant tumour of mouth NCI2004_11_17:C7545 malignant Pharyngeal tumor SNOMEDCT_2005_07_31:187665007 malignant neoplasm of palate unspecified (disorder) MTHICD9_2006:145.9 malignant neoplasm of oral cavity NOS SNOMEDCT_2005_07_31:187670000 malignant neoplasm of mouth NOS (disorder) SNOMEDCT_2005_07_31:93961004 malignant neoplasm of pharynx, NOS SNOMEDCT_2005_07_31:363390005 malignant tumor of palate (disorder) MTH:NOCODE malignant neoplasm of pharynx SNOMEDCT_2005_07_31:187667004 malignant neoplasm of palate NOS (disorder) SNOMEDCT_2005_07_31:187714006 malignant neoplasm of pharynx unspecified (disorder) NCI2004_11_17:C9316 malignant Oral neoplasm MTHICD9_2006:145.5 SNOMEDCT_2005_07_31:93935003 malignant neoplasm of roof of mouth lung benign neoplasm DOID:3683 MSH:D008175 NCI:C3200 SNOMEDCT_US_2015_03_01:126713003 UMLS_CUI:C0024121 disease_ontology tumor of the lung NCI2004_11_17:C3200 tumor of the lung Helicobacter pylori infectious disease DOID:3686 Helicobacter Pylori Infection disease_ontology true Helicobacter Pylori Infection NCI2004_11_17:C39293 MELAS syndrome DOID:3687 ICD10CM:E88.41 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MSH:D017241 OMIM mapping confirmed by DO. [SN]. OMIM:540000 SNOMEDCT_US_2015_03_01:240097009 SNOMEDCT_US_2015_03_01:39925003 UMLS_CUI:C0162671 disease_ontology plexopathy DOID:3688 NCI:C27744 UMLS_CUI:C1335437 disease_ontology brachial plexus neuritis Brachial neuritis Brachial neuritis (disorder) DOID:3689 ICD10CM:G54.5 MSH:D020968 NCI:C84600 Parsonage-Aldren-Turner syndrome SNOMEDCT_US_2015_03_01:156642003 SNOMEDCT_US_2015_03_01:26609002 SNOMEDCT_US_2015_03_01:268079007 SNOMEDCT_US_2015_03_01:3548001 SNOMEDCT_US_2015_03_01:72893007 UMLS_CUI:C0221759 disease_ontology MTHICD9_2006:353.5 Parsonage-Aldren-Turner syndrome Brachial neuritis SNOMEDCT_2005_07_31:268079007 Parsonage-Aldren-Turner syndrome SNOMEDCT_2005_07_31:26609002 Brachial neuritis SNOMEDCT_2005_07_31:3548001 Brachial neuritis (disorder) SNOMEDCT_2005_07_31:72893007 Brachial neuritis SNOMEDCT_2005_07_31:156642003 olfactory neuroblastoma Asthesioneuroblastoma (morphologic abnormality) DOID:369 Esthesioneuroblastoma (morphologic abnormality) Esthesioneuroepithelioma (morphologic abnormality) Esthesioneuroepithelioma [dup] (morphologic abnormality) MSH:D018304 NCI:C3789 NCI:C6016 Olfactory Esthesioneuroblastoma SNOMEDCT_US_2015_03_01:189937004 SNOMEDCT_US_2015_03_01:189938009 SNOMEDCT_US_2015_03_01:422886007 SNOMEDCT_US_2015_03_01:68614005 SNOMEDCT_US_2015_03_01:76060004 UMLS_CUI:C0206717 disease_ontology paranasal sinus Olfactory neuroblastoma NCI2004_11_17:C6016 paranasal sinus Olfactory neuroblastoma NCI2004_11_17:C3789 Olfactory Esthesioneuroblastoma Esthesioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:76060004 Esthesioneuroepithelioma (morphologic abnormality) SNOMEDCT_2005_07_31:68614005 Asthesioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:189937004 Esthesioneuroepithelioma [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:189938009 brachial plexus neuropathy Brachial plexus disorder DOID:3690 ICD10CM:G54.0 MSH:D020516 NCI:C27194 SNOMEDCT_US_2015_03_01:3548001 UMLS_CUI:C0700251 brachial plexopathy disease_ontology NCI2004_11_17:C27194 brachial plexopathy Brachial plexus disorder SNOMEDCT_2005_07_31:3548001 anal colloid adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. DOID:3691 NCI:C5606 UMLS_CUI:C1332272 disease_ontology mucinous adenocarcinoma of anus An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C5606 mucinous adenocarcinoma of anus anal canal adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. DOID:3692 NCI:C7471 UMLS_CUI:C1332259 adenocarcinoma of anal canal adenocarcinoma of the anal canal disease_ontology An anal canal cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C7471 adenocarcinoma of the anal canal ampulla of Vater mucinous adenocarcinoma DOID:3693 NCI:C27416 UMLS_CUI:C1332248 disease_ontology adnexal mucinous adenocarcinoma DOID:3694 disease_ontology true adnexa adenocarcinoma DOID:3695 adenocarcinoma of the adnexa adenocarcinoma of the skin Appendage disease_ontology true NCI2004_11_17:C5571 adenocarcinoma of the skin Appendage acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. DOID:3696 ICD9CM:381.03 SNOMEDCT_US_2015_03_01:77478005 UMLS_CUI:C0395865 acute sanguinous otitis media (disorder) disease_ontology A acute transudative otitis media which involves bloody effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false SNOMEDCT_2005_07_31:77478005 acute sanguinous otitis media (disorder) acute transudative otitis media A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. DOID:3697 ICD9CM:381.0 ICD9CM:381.00 SNOMEDCT_US_2015_03_01:11957006 SNOMEDCT_US_2015_03_01:155218001 SNOMEDCT_US_2015_03_01:194238001 SNOMEDCT_US_2015_03_01:194239009 SNOMEDCT_US_2015_03_01:194244002 SNOMEDCT_US_2015_03_01:35183001 SNOMEDCT_US_2015_03_01:359609001 SNOMEDCT_US_2015_03_01:36958006 UMLS_CUI:C0271432 acute non-suppurative otitis media acute non-suppurative otitis media (disorder) acute non-suppurative otitis media NOS (disorder) acute non-suppurative otitis media [Ambiguous] acute nonsuppurative otitis media acute nonsuppurative otitis media (disorder) acute nonsuppurative otitis media, unspecified acute otitis media with effusion (disorder) acute secretory otitis media acute transudative otitis media (disorder) disease_ontology ICD9CM_2006:381.00 acute nonsuppurative otitis media, unspecified SNOMEDCT_2005_07_31:36958006 acute nonsuppurative otitis media (disorder) SNOMEDCT_2005_07_31:359609001 acute non-suppurative otitis media (disorder) SNOMEDCT_2005_07_31:155218001 acute non-suppurative otitis media SNOMEDCT_2005_07_31:35183001 acute transudative otitis media (disorder) SNOMEDCT_2005_07_31:11957006 acute secretory otitis media ICD9CM_2006:381.0 acute nonsuppurative otitis media SNOMEDCT_2005_07_31:194239009 acute secretory otitis media SNOMEDCT_2005_07_31:270490007 acute otitis media with effusion (disorder) SNOMEDCT_2005_07_31:194244002 acute non-suppurative otitis media NOS (disorder) SNOMEDCT_2005_07_31:194238001 acute non-suppurative otitis media [Ambiguous] A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 bile duct mucinous adenocarcinoma DOID:3698 NCI:C5846 UMLS_CUI:C0861856 disease_ontology mucinous carcinoma of the bile duct NCI2004_11_17:C5846 mucinous carcinoma of the bile duct uterine ligament mucinous adenocarcinoma DOID:3699 NCI:C40137 UMLS_CUI:C1519869 disease_ontology skin disease An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:37 DOID:6486 DOID:8948 Dermatitis due to Unspecified Substance taken Internally Dermatitis due to substances taken internally Dermatitis due to substances taken internally (disorder) Dermatitis due to unspecified substance taken internally Dermatitis due to unspecified substance taken internally (disorder) Genodermatosis (disorder) Genodermatosis, NOS ICD9CM:702 MSH:D012871 MSH:D012873 NCI:C27554 NCI:C3371 SNOMEDCT_US_2015_03_01:156292006 SNOMEDCT_US_2015_03_01:156396006 SNOMEDCT_US_2015_03_01:156400006 SNOMEDCT_US_2015_03_01:156445005 SNOMEDCT_US_2015_03_01:199879009 SNOMEDCT_US_2015_03_01:200580005 SNOMEDCT_US_2015_03_01:201095006 SNOMEDCT_US_2015_03_01:201107006 SNOMEDCT_US_2015_03_01:239001006 SNOMEDCT_US_2015_03_01:267806002 SNOMEDCT_US_2015_03_01:267859000 SNOMEDCT_US_2015_03_01:267860005 SNOMEDCT_US_2015_03_01:267873009 SNOMEDCT_US_2015_03_01:5613003 SNOMEDCT_US_2015_03_01:80659006 SNOMEDCT_US_2015_03_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 disease_ontology genetic skin disease skin and subcutaneous tissue disease Dermatitis due to substances taken internally (disorder) SNOMEDCT_2005_07_31:13582007 Genodermatosis (disorder) SNOMEDCT_2005_07_31:239001006 Genodermatosis, NOS SNOMEDCT_2005_07_31:199879009 SNOMEDCT_2005_07_31:5613003 Dermatitis due to Unspecified Substance taken Internally NCI2004_11_17:C35224 Dermatitis due to unspecified substance taken internally (disorder) SNOMEDCT_2005_07_31:201367002 Dermatitis due to substances taken internally ICD9CM_2006:693 An integumentary system disease that is located_in skin. url:http://en.wikipedia.org/wiki/Skin_disease malignant olfactory nerve tumor DOID:370 disease_ontology malignant tumor of Olfactory nerve primary malignant neoplasm of olfactory nerve true NCI2004_11_17:C4768 malignant tumor of Olfactory nerve SNOMEDCT_2005_07_31:93930008 primary malignant neoplasm of olfactory nerve uterine ligament adenocarcinoma DOID:3700 NCI:C40135 UMLS_CUI:C1519866 disease_ontology cervical mucinous adenocarcinoma DOID:3701 NCI:C36095 UMLS_CUI:C1332919 disease_ontology cervical adenocarcinoma A cervix carcinoma that derives_from epithelial cells of glandular origin. DOID:3702 NCI:C4029 SNOMEDCT_US_2015_03_01:154522004 SNOMEDCT_US_2015_03_01:254887002 SNOMEDCT_US_2015_03_01:269596006 UMLS_CUI:C0279672 adenocarcinoma cervix uteri adenocarcinoma of cervix (disorder) adenocarcinoma of the uterine Cervix disease_ontology SNOMEDCT_2005_07_31:254887002 adenocarcinoma of cervix (disorder) NCI2004_11_17:C4029 adenocarcinoma of the uterine Cervix A cervix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:269596006 adenocarcinoma cervix uteri SNOMEDCT_2005_07_31:154522004 adenocarcinoma cervix uteri prostate colloid adenocarcinoma DOID:3703 NCI:C5537 UMLS_CUI:C1335513 acinar Colloid prostate adenocarcinoma disease_ontology NCI2004_11_17:C5537 acinar Colloid prostate adenocarcinoma fallopian tube mucinous adenocarcinoma DOID:3704 NCI:C40103 UMLS_CUI:C1517119 disease_ontology fallopian tube mucinous tumor DOID:3705 NCI:C40109 UMLS_CUI:C1517120 disease_ontology fallopian tube adenocarcinoma A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. DOID:3706 NCI:C6265 UMLS_CUI:C1333590 adenocarcinoma of the fallopian tube disease_ontology A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C6265 adenocarcinoma of the fallopian tube endometrial mucinous adenocarcinoma DOID:3707 NCI:C40144 UMLS_CUI:C1519859 disease_ontology uterine Corpus mucinous adenocarcinoma NCI2004_11_17:C40144 uterine Corpus mucinous adenocarcinoma rectum mucinous adenocarcinoma Colloidal adenocarcinoma of rectum DOID:3709 NCI:C7973 UMLS_CUI:C0279652 disease_ontology Colloidal adenocarcinoma of rectum NCI2004_11_17:C7973 extracranial neuroblastoma DOID:371 NCI:C5437 UMLS_CUI:C1333499 disease_ontology bladder colloid adenocarcinoma DOID:3710 NCI:C39837 UMLS_CUI:C1511193 disease_ontology bladder adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. DOID:3711 NCI:C39836 NCI:C4032 SNOMEDCT_US_2015_03_01:255110003 UMLS_CUI:C0279682 adenocarcinoma of bladder (disorder) adenocarcinoma of the urinary bladder bladder adenocarcinoma, Not Otherwise Specified disease_ontology NCI2004_11_17:C4032 adenocarcinoma of the urinary bladder A bladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:255110003 adenocarcinoma of bladder (disorder) NCI2004_11_17:C39836 bladder adenocarcinoma, Not Otherwise Specified ovary adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. DOID:3713 DOID:7816 NCI:C7700 Ovarian adenocarcinoma UMLS_CUI:C0948216 adenocarcinoma of the ovary disease_ontology ovarian adenoacanthoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C7700 Ovarian adenocarcinoma non-suppurative otitis media and eustachian tube disorder A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. DOID:3715 disease_ontology true A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 mucinous stomach adenocarcinoma DOID:3716 NCI:C5248 UMLS_CUI:C1334809 disease_ontology mucinous adenocarcinoma of the stomach NCI2004_11_17:C5248 mucinous adenocarcinoma of the stomach gastric adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. DOID:3717 NCI:C4004 SNOMEDCT_US_2015_03_01:408647009 UMLS_CUI:C0278701 adenocarcinoma of stomach (disorder) disease_ontology stomach adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:408647009 adenocarcinoma of stomach (disorder) NCI2004_11_17:C4004 stomach adenocarcinoma Arterivirus infectious disease A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. DOID:3718 disease_ontology true A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. url:http://en.wikipedia.org/wiki/Arterivirus extramedullary plasmacytoma DOID:3720 Extramedullary plasmacytoma Extramedullary plasmacytoma (clinical) ICD10CM:C90.2 ICD10CM:C90.20 NCI:C4002 SNOMEDCT_US_2015_03_01:10639003 SNOMEDCT_US_2015_03_01:109987008 SNOMEDCT_US_2015_03_01:128921005 SNOMEDCT_US_2015_03_01:188718006 UMLS_CUI:C0278619 disease_ontology extraosseous plasmacytoma plasmacytoma, extramedullary (not occurring in bone) NCI2004_11_17:C4002 extraosseous plasmacytoma SNOMEDCT_2005_07_31:128921005 plasmacytoma, extramedullary (not occurring in bone) Extramedullary plasmacytoma (clinical) SNOMEDCT_2005_07_31:188718006 Extramedullary plasmacytoma (clinical) SNOMEDCT_2005_07_31:109987008 Extramedullary plasmacytoma SNOMEDCT_2005_07_31:10639003 plasmacytoma DOID:3721 ICD10CM:C90.3 ICD10CM:C90.30 MSH:D010954 Myeloma - solitary Myeloma, solitary NCI:C6932 NCI:C9349 SNOMEDCT_US_2015_03_01:10639003 SNOMEDCT_US_2015_03_01:109987008 SNOMEDCT_US_2015_03_01:154644004 SNOMEDCT_US_2015_03_01:188719003 SNOMEDCT_US_2015_03_01:188720009 SNOMEDCT_US_2015_03_01:189507001 SNOMEDCT_US_2015_03_01:190016004 SNOMEDCT_US_2015_03_01:190017008 SNOMEDCT_US_2015_03_01:190019006 SNOMEDCT_US_2015_03_01:269652000 SNOMEDCT_US_2015_03_01:274907000 SNOMEDCT_US_2015_03_01:302852008 SNOMEDCT_US_2015_03_01:308122007 SNOMEDCT_US_2015_03_01:415112005 Solitary myeloma Solitary plasmacytoma UMLS_CUI:C0032131 disease_ontology MTHICD9_2006:238.6 Solitary myeloma Myeloma, solitary SNOMEDCT_2005_07_31:269652000 NCI2004_11_17:C6932 Solitary plasmacytoma Myeloma - solitary SNOMEDCT_2005_07_31:189507001 solitary osseous plasmacytoma DOID:3722 Isolated osseous plasmacytoma NCI:C7812 SNOMEDCT_US_2015_03_01:42215000 SNOMEDCT_US_2015_03_01:426336007 Solitary plasmacytoma of bone UMLS_CUI:C0272256 disease_ontology Isolated osseous plasmacytoma NCI2004_11_17:C7812 SNOMEDCT_2005_07_31:42215000 Solitary plasmacytoma of bone solitary plasmacytoma of chest wall DOID:3723 NCI:C6711 Solitary plasmacytoma of the Chest Wall UMLS_CUI:C1332936 disease_ontology NCI2004_11_17:C6711 Solitary plasmacytoma of the Chest Wall puerperal disease DOID:3726 disease_ontology disorder of puerperium (disorder) disorder of the puerperium puerperal disorder true SNOMEDCT_2005_07_31:362973001 disorder of puerperium (disorder) CSP2005:2404-6473 puerperal disorder SNOMEDCT_2005_07_31:156262002 disorder of the puerperium acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. DOID:3728 ICD9CM:381.06 SNOMEDCT_US_2015_03_01:17866004 SNOMEDCT_US_2015_03_01:194243008 UMLS_CUI:C0155420 acute allergic sanguinous otitis media (disorder) disease_ontology SNOMEDCT_2005_07_31:17866004 acute allergic sanguinous otitis media (disorder) A acute sanguinous otitis media caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 Respirovirus infectious disease A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. DOID:3729 disease due to Paramyxovirus (disorder) disease_ontology true A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. url:http://expasy.org/viralzone/all_by_species/87.html SNOMEDCT_2005_07_31:84118005 disease due to Paramyxovirus (disorder) infant nutrition disorder DOID:373 disease_ontology infant nutrition disorder true CSP2005:2116-7820 infant nutrition disorder pneumonic pasteurellosis A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. DOID:3730 Pneumonic pasteurellosis disease_ontology true Pneumonic pasteurellosis SNOMEDCT_2005_07_31:61532009 A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm primary Pasteurellaceae infectious disease DOID:3731 disease_ontology true bovine respiratory disease complex A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. DOID:3732 disease_ontology true A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm url:http://www.jstor.org/stable/pdfplus/1349519.pdf theileriasis A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. DOID:3733 Infection by Theileria (disorder) MSH:D013801 SNOMEDCT_US_2015_03_01:68771000 UMLS_CUI:C0039753 disease_ontology theileriosis A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. url:http://en.wikipedia.org/wiki/East_Coast_fever Infection by Theileria (disorder) SNOMEDCT_2005_07_31:68771000 verrucous carcinoma A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. DOID:3737 MSH:D018289 NCI:C3781 SNOMEDCT_US_2015_03_01:189563000 SNOMEDCT_US_2015_03_01:403904009 SNOMEDCT_US_2015_03_01:89906000 UMLS_CUI:C0206706 Warty carcinoma disease_ontology verrucous carcinoma NOS (morphologic abnormality) verrucous squamous carcinoma verrucous squamous cell carcinoma (disorder) NCI2004_11_17:C3781 verrucous squamous carcinoma SNOMEDCT_2005_07_31:399408005 Warty carcinoma SNOMEDCT_2005_07_31:189563000 verrucous carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:89906000 Warty carcinoma SNOMEDCT_2005_07_31:403904009 verrucous squamous cell carcinoma (disorder) A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. url:http://en.wikipedia.org/wiki/Verrucous_carcinoma human papillomavirus related squamous cell carcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. DOID:3739 HPV-Related squamous cell carcinoma disease_ontology true A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. url:http://emedicine.medscape.com/article/219110-overview url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma HPV-Related squamous cell carcinoma NCI2004_11_17:C27683 nutrition disease An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. DOID:374 MSH:D009748 NCI:C26836 Nutritional disorder SNOMEDCT_US_2015_03_01:191077005 SNOMEDCT_US_2015_03_01:2492009 UMLS_CUI:C3714509 disease_ontology NCI2004_11_17:C26836 Nutritional disorder An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. url:http://www.who.int/topics/nutrition_disorders/en/ vulva verrucous carcinoma DOID:3740 NCI:C6383 UMLS_CUI:C1336983 disease_ontology verrucous carcinoma of Vulva NCI2004_11_17:C6383 verrucous carcinoma of Vulva bladder verrucous squamous cell carcinoma DOID:3741 NCI:C39832 UMLS_CUI:C1511208 disease_ontology bladder squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. DOID:3742 Epidermoid carcinoma of the urinary bladder NCI:C4031 SNOMEDCT_US_2015_03_01:255111004 UMLS_CUI:C0279681 disease_ontology squamous cell carcinoma of bladder (disorder) Epidermoid carcinoma of the urinary bladder NCI2004_11_17:C4031 SNOMEDCT_2005_07_31:255111004 squamous cell carcinoma of bladder (disorder) A carcinoma of bladder that is manifested in squamous cells of the bladder. url:http://www.cancer.gov/cancertopics/types/bladder cervical verrucous carcinoma DOID:3743 NCI:C40190 UMLS_CUI:C1516435 disease_ontology cervical squamous cell carcinoma A cervix carcinoma that has_material_basis_in squamous cells of the cervix. DOID:3744 NCI:C4028 SNOMEDCT_US_2015_03_01:254886006 UMLS_CUI:C0279671 disease_ontology squamous cell carcinoma of cervix (disorder) squamous cell carcinoma of the Cervix Uteri SNOMEDCT_2005_07_31:254886006 squamous cell carcinoma of cervix (disorder) NCI2004_11_17:C4028 squamous cell carcinoma of the Cervix Uteri A cervix carcinoma that has_material_basis_in squamous cells of the cervix. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=752829 esophagus verrucous carcinoma DOID:3747 NCI:C27420 UMLS_CUI:C1333470 disease_ontology verrucous carcinoma of esophagus verrucous carcinoma of the esophagus NCI2004_11_17:C27420 verrucous carcinoma of esophagus esophagus squamous cell carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. DOID:3748 MSH:C562729 NCI:C4024 OMIM mapping confirmed by DO. [SN]. OMIM:133239 SCC of esophagus SNOMEDCT_US_2015_03_01:276804009 UMLS_CUI:C0279626 disease_ontology squamous cell carcinoma of esophagus squamous cell carcinoma of esophagus (disorder) NCI2004_11_17:C4024 SCC of esophagus SNOMEDCT_2005_07_31:276804009 squamous cell carcinoma of esophagus (disorder) An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. url:http://www.cancer.gov/cancertopics/types/esophageal urethral verrucous carcinoma DOID:3749 NCI:C39874 UMLS_CUI:C1519827 disease_ontology urethra squamous cell carcinoma A cancer of urethra that shows squamous cell differentiation. DOID:3750 NCI:C6165 UMLS_CUI:C1336890 disease_ontology urethral Epidermoid carcinoma A cancer of urethra that shows squamous cell differentiation. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma NCI2004_11_17:C6165 urethral Epidermoid carcinoma plantar verrucous skin carcinoma DOID:3751 NCI:C6811 UMLS_CUI:C1335424 disease_ontology larynx verrucous carcinoma DOID:3752 NCI:C8188 UMLS_CUI:C0280328 disease_ontology verrucous carcinoma of the Larynx NCI2004_11_17:C8188 verrucous carcinoma of the Larynx Hermansky-Pudlak syndrome An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. DOID:3753 HPS (Hermansky Pudlak syndrome) ICD10CM:E70.331 MSH:D022861 NCI:C37261 OMIM:203300 OMIM:608233 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:614076 OMIM:614077 OMIM:614171 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2015_03_01:190697008 SNOMEDCT_US_2015_03_01:60255003 SNOMEDCT_US_2015_03_01:9311003 UMLS_CUI:C0079504 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology CSP2005:0446-1413 HPS (Hermansky Pudlak syndrome) An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract antithrombin III deficiency AT III deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins. DOID:3755 ICD10CM:D68.59 MSH:D020152 NCI:C98815 OMIM:613118 SNOMEDCT_US_2015_03_01:36351005 UMLS_CUI:C0272375 Xref MGI. disease_ontology hereditary thrombophilia due to congenital antithrombin deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins. url:http://en.wikipedia.org/wiki/Antithrombin_III_deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract protein C deficiency DOID:3756 ICD10CM:D68.59 MSH:D020151 NCI:C99025 SNOMEDCT_US_2015_03_01:76407009 UMLS_CUI:C0398625 disease_ontology Fusobacterium infectious disease DOID:3758 disease_ontology true cytochrome-c oxidase deficiency disease DOID:3762 MITOCHONDRIAL COMPLEX IV DEFICIENCY MSH:D030401 NCI:C98910 OMIM mapping confirmed by DO. [SN]. OMIM:220110 SNOMEDCT_US_2015_03_01:124199009 SNOMEDCT_US_2015_03_01:237991006 SNOMEDCT_US_2015_03_01:67434000 UMLS_CUI:C0268237 disease_ontology hermaphroditism DOID:3763 MSH:D012734 NCI:C45909 SNOMEDCT_US_2015_03_01:237821001 SNOMEDCT_US_2015_03_01:52572004 UMLS_CUI:C0019269 disease_ontology Denys-Drash syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). DOID:3764 MSH:D030321 NCI:C84668 OMIM mapping confirmed by DO. [SN]. OMIM:194080 SNOMEDCT_US_2015_03_01:236385009 UMLS_CUI:C0950121 disease_ontology An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN pseudohermaphroditism DOID:11226 DOID:3765 ICD10CM:Q56 ICD10CM:Q56.3 ICD9CM:752.7 Indeterminate sex and pseudohermaphroditism MSH:D012734 SNOMEDCT_US_2015_03_01:204895009 SNOMEDCT_US_2015_03_01:204897001 SNOMEDCT_US_2015_03_01:268229003 SNOMEDCT_US_2015_03_01:268328009 SNOMEDCT_US_2015_03_01:75164001 UMLS_CUI:C0021193 UMLS_CUI:C0033804 disease_ontology leukorrhea DOID:3766 ICD10CM:N89.8 LEUKORRHEA Leukorrhagia (finding) Leukorrhea (finding) Leukorrhea (finding) [Ambiguous] Leukorrhea NOS of vagina Leukorrhoea MSH:D007973 NCI:C34775 SNOMEDCT_US_2015_03_01:11057009 SNOMEDCT_US_2015_03_01:156017008 SNOMEDCT_US_2015_03_01:237101004 SNOMEDCT_US_2015_03_01:266664009 SNOMEDCT_US_2015_03_01:278070007 SNOMEDCT_US_2015_03_01:289552002 SNOMEDCT_US_2015_03_01:70856007 UMLS_CUI:C0023533 discharge - leukorrhea disease_ontology LEUKORRHEA MTH:NOCODE Leukorrhagia (finding) SNOMEDCT_2005_07_31:11057009 SNOMEDCT_2005_07_31:156017008 discharge - leukorrhea Leukorrhea (finding) SNOMEDCT_2005_07_31:237101004 SNOMEDCT_2005_07_31:266664009 discharge - leukorrhea Leukorrhoea SNOMEDCT_2005_07_31:278070007 Leukorrhea NOS of vagina MTHICD9_2006:623.5 Leukorrhea (finding) [Ambiguous] SNOMEDCT_2005_07_31:70856007 vaginal discharge DOID:3767 MSH:D019522 NCI:C50795 SNOMEDCT_US_2015_03_01:139439007 SNOMEDCT_US_2015_03_01:162159008 SNOMEDCT_US_2015_03_01:198369007 SNOMEDCT_US_2015_03_01:271939006 SNOMEDCT_US_2015_03_01:70856007 UMLS_CUI:C0227791 disease_ontology pulmonary fibrosis DOID:3770 Fibrosis of lung (disorder) MSH:D011658 NCI:C26869 SNOMEDCT_US_2015_03_01:155613001 SNOMEDCT_US_2015_03_01:196121006 SNOMEDCT_US_2015_03_01:51615001 UMLS_CUI:C0034069 disease_ontology Fibrosis of lung (disorder) SNOMEDCT_2005_07_31:51615001 intraventricular meningioma DOID:3772 MSH:D008579 NCI:C5273 UMLS_CUI:C1334271 disease_ontology third ventricle chordoid glioma Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle DOID:3773 NCI:C5592 SNOMEDCT_US_2015_03_01:128789002 UMLS_CUI:C1322252 disease_ontology Chordoid glioma of third ventricle SNOMEDCT_2005_07_31:128789002 Chordoid glioma of 3rd Ventricle NCI2004_11_17:C6961 chordoid glioma Chordoid glioma Chordoid glioma (morphologic abnormality) DOID:3774 NCI:C5592 SNOMEDCT_US_2015_03_01:128789002 UMLS_CUI:C1322252 disease_ontology Chordoid glioma (morphologic abnormality) SNOMEDCT_2005_07_31:128789002 Chordoid glioma NCI2004_11_17:C5592 granuloma annulare DOID:3777 Granuloma annulare Granuloma annulare (disorder) Granulome annulare ICD10CM:L92.0 MSH:D016460 NCI:C3470 SNOMEDCT_US_2015_03_01:156368000 SNOMEDCT_US_2015_03_01:200953005 SNOMEDCT_US_2015_03_01:267850001 SNOMEDCT_US_2015_03_01:65508009 UMLS_CUI:C0085074 disease_ontology Granulome annulare SNOMEDCT_2005_07_31:156368000 Granuloma annulare SNOMEDCT_2005_07_31:200953005 Granulome annulare SNOMEDCT_2005_07_31:267850001 Granuloma annulare (disorder) SNOMEDCT_2005_07_31:65508009 anovulation Anovulation (finding) DOID:3781 MSH:D000858 NCI:C34388 SNOMEDCT_US_2015_03_01:34571000 UMLS_CUI:C0003128 disease_ontology Anovulation (finding) SNOMEDCT_2005_07_31:34571000 Coffin-Lowry syndrome Coffin-Lowry syndrome (disorder) DOID:3783 MSH:D038921 NCI:C84643 OMIM mapping confirmed by DO. [SN]. OMIM:303600 SNOMEDCT_US_2015_03_01:15182000 UMLS_CUI:C0265252 disease_ontology Coffin-Lowry syndrome (disorder) SNOMEDCT_2005_07_31:15182000 external ear disease DOID:13122 DOID:379 DOID:835 ICD10CM:H60-H62 ICD10CM:H61.9 ICD9CM:380 ICD9CM:380.9 NCI:C26972 Preauricular cyst Preauricular cyst (disorder) Preauricular sinus and fistula (disorder) Preauricular sinus or fistula Preauricular sinus or fistula NOS (disorder) SNOMEDCT_US_2015_03_01:155209003 SNOMEDCT_US_2015_03_01:155216002 SNOMEDCT_US_2015_03_01:194236002 SNOMEDCT_US_2015_03_01:194664001 SNOMEDCT_US_2015_03_01:267751009 SNOMEDCT_US_2015_03_01:49130001 UMLS_CUI:C0155388 disease_ontology Preauricular sinus or fistula NOS (disorder) SNOMEDCT_2005_07_31:204273002 Preauricular cyst (disorder) SNOMEDCT_2005_07_31:18820007 Preauricular sinus and fistula (disorder) SNOMEDCT_2005_07_31:204270004 pleural empyema A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. DOID:11023 DOID:13630 DOID:14304 DOID:3798 Empyema (& pleural) Empyema (disorder) Empyema (morphologic abnormality) Empyema NOS Empyema NOS (& pleural) Empyema of pleura (disorder) Empyema of pleura without fistula (disorder) Empyema with fistula Empyema with fistula (& pleural) Empyema with fistula (disorder) Empyema with fistula NOS (& pleural) Empyema with no fistula Empyema with no fistula NOS Empyema with pleural fistula (disorder) Empyema with pleural fistula NOS (disorder) Empyema with thoracic fistula NOS (disorder) Empyema without mention of fistula Empyema, chest ICD10CM:J86 ICD10CM:J86.9 MSH:D016724 NCI:C45692 Pleural empyema Pleural empyema (disorder) Pleural empyema NOS (disorder) Pleural empyema with fistula (disorder) Pleural empyema with no fistula (disorder) Purulent pleurisy (disorder) SNOMEDCT_US_2015_03_01:155604003 SNOMEDCT_US_2015_03_01:196058009 SNOMEDCT_US_2015_03_01:196068004 SNOMEDCT_US_2015_03_01:196069007 SNOMEDCT_US_2015_03_01:196070008 SNOMEDCT_US_2015_03_01:196071007 SNOMEDCT_US_2015_03_01:196072000 SNOMEDCT_US_2015_03_01:196074004 SNOMEDCT_US_2015_03_01:271502000 SNOMEDCT_US_2015_03_01:271506002 SNOMEDCT_US_2015_03_01:405950009 SNOMEDCT_US_2015_03_01:405951008 SNOMEDCT_US_2015_03_01:58554001 SNOMEDCT_US_2015_03_01:69947005 SNOMEDCT_US_2015_03_01:75952005 Thorax abscess NOS (disorder) UMLS_CUI:C0014013 Updating outdated UMLS CUI. abscess of pleural cavity (disorder) abscess of thorax (disorder) disease_ontology empyema empyema with fistula lung empyema NOS (disorder) pleural empyema with no fistula pulmonary Empyema purulent pleuritis pyothorax Pleural empyema with fistula (disorder) SNOMEDCT_2005_07_31:271503005 Empyema with no fistula NOS SNOMEDCT_2005_07_31:196073005 Pleural empyema SNOMEDCT_2005_07_31:155604003 Empyema, chest MTHICD9_2006:510.9 Empyema (morphologic abnormality) SNOMEDCT_2005_07_31:66696003 NCI2004_11_17:C34574 pulmonary Empyema Empyema NOS (& pleural) SNOMEDCT_2005_07_31:196074004 Pleural empyema NOS (disorder) SNOMEDCT_2005_07_31:271506002 Pleural empyema SNOMEDCT_2005_07_31:196071007 Empyema with fistula (& pleural) SNOMEDCT_2005_07_31:196059001 Empyema without mention of fistula ICD9CM_2006:510.9 Empyema (& pleural) SNOMEDCT_2005_07_31:196058009 Empyema with fistula NCI2004_11_17:C34573 Empyema of pleura (disorder) SNOMEDCT_2005_07_31:58554001 Empyema with fistula (disorder) SNOMEDCT_2005_07_31:41354004 SNOMEDCT_2005_07_31:196068004 Thorax abscess NOS (disorder) Pleural empyema (disorder) SNOMEDCT_2005_07_31:271502000 Pleural empyema SNOMEDCT_2005_07_31:196072000 Purulent pleurisy (disorder) SNOMEDCT_2005_07_31:75952005 SNOMEDCT_2005_07_31:405950009 abscess of thorax (disorder) Empyema with pleural fistula NOS (disorder) SNOMEDCT_2005_07_31:196063008 SNOMEDCT_2005_07_31:196070008 lung empyema NOS (disorder) Empyema with no fistula SNOMEDCT_2005_07_31:196066000 Pleural empyema with no fistula (disorder) SNOMEDCT_2005_07_31:271504004 Empyema with pleural fistula (disorder) SNOMEDCT_2005_07_31:43570006 SNOMEDCT_2005_07_31:69947005 abscess of thorax (disorder) Empyema (disorder) SNOMEDCT_2005_07_31:312682007 Empyema NOS SNOMEDCT_2005_07_31:196074004 Empyema with fistula NOS (& pleural) SNOMEDCT_2005_07_31:196065001 Pleural empyema SNOMEDCT_2005_07_31:196069007 Empyema of pleura without fistula (disorder) SNOMEDCT_2005_07_31:15995006 SNOMEDCT_2005_07_31:405951008 abscess of pleural cavity (disorder) A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. url:http://en.wikipedia.org/wiki/Pleural_empyema url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh Empyema with thoracic fistula NOS (disorder) SNOMEDCT_2005_07_31:196064002 feline panleukopenia A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. DOID:3799 Feline panleukemia disease_ontology true Feline panleukemia SNOMEDCT_2005_07_31:29386004 A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Feline_panleukopenia avian leukosis A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. DOID:3800 Tumor Virus Infections disease_ontology true A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm Crigler-Najjar syndrome A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I (disorder) DOID:3803 ICD10CM:E80.5 MSH:D003414 NCI:C84656 OMIM mapping confirmed by DO. [SN]. OMIM:218800 SNOMEDCT_US_2015_03_01:190933008 SNOMEDCT_US_2015_03_01:28259009 SNOMEDCT_US_2015_03_01:8933000 UMLS_CUI:C0010324 disease_ontology A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). url:http://emedicine.medscape.com/article/172858-overview#a0104 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002114/ Crigler-Najjar syndrome, type I (disorder) SNOMEDCT_2005_07_31:8933000 CSP2005:1654-1020 Crigler Najjar syndrome Bilirubin UDP glucuronyl transferase deficiency SNOMEDCT_2005_07_31:190933008 porokeratosis DOID:3805 DOID:8668 Disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis (disorder) ICD10CM:L56.5 ICD9CM:692.75 MSH:D017499 NCI:C85019 OMIM:175800 Porokeratosis (disorder) Porokeratosis, NOS SNOMEDCT_US_2015_03_01:201086003 SNOMEDCT_US_2015_03_01:238630009 SNOMEDCT_US_2015_03_01:400080004 SNOMEDCT_US_2015_03_01:41495000 SNOMEDCT_US_2015_03_01:80432009 UMLS_CUI:C0162839 UMLS_CUI:C0265970 Xref MGI. disease_ontology disseminated superficial actinic porokeratosis disseminated superficial actinic porokeratosis (DSAP) Porokeratosis (disorder) SNOMEDCT_2005_07_31:400080004 Disseminated superficial actinic porokeratosis SNOMEDCT_2005_07_31:201086003 Disseminated superficial actinic porokeratosis (disorder) SNOMEDCT_2005_07_31:41495000 Porokeratosis, NOS SNOMEDCT_2005_07_31:80432009 epidural spinal canal meningioma DOID:3809 NCI:C5310 UMLS_CUI:C1333417 disease_ontology arthropathy A bone inflammation disease that is located_in joint. Ankylosis of joint of ankle and/or foot (disorder) Ankylosis of joint of forearm (disorder) Ankylosis of joint of hand (disorder) Ankylosis of joint of lower leg (disorder) Ankylosis of joint of multiple sites (disorder) Ankylosis of joint of shoulder region (disorder) Ankylosis of joint of upper arm (disorder) Ankylosis of multiple joints DOID:13871 DOID:13960 DOID:1843 DOID:1903 DOID:226 DOID:2317 DOID:2318 DOID:381 DOID:546 DOID:9489 ICD10CM:M00-M02 ICD10CM:M12.9 ICD10CM:M19.90 ICD10CM:M25.9 ICD9CM:711 ICD9CM:716.9 ICD9CM:716.90 ICD9CM:719.9 ICD9CM:719.90 Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot (disorder) Joint ankylosis of the forearm Joint ankylosis of the forearm (disorder) Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the lower leg (disorder) Joint ankylosis of the pelvic region and thigh Joint ankylosis of the pelvic region and thigh (disorder) Joint ankylosis of the shoulder region Joint ankylosis of the shoulder region (disorder) Joint ankylosis of the upper arm Joint ankylosis of the upper arm (disorder) MSH:D007592 NCI:C35760 NCI:C78402 SNOMEDCT_US_2015_03_01:156508002 SNOMEDCT_US_2015_03_01:156514009 SNOMEDCT_US_2015_03_01:156616003 SNOMEDCT_US_2015_03_01:196415003 SNOMEDCT_US_2015_03_01:201455003 SNOMEDCT_US_2015_03_01:202059001 SNOMEDCT_US_2015_03_01:202061005 SNOMEDCT_US_2015_03_01:202073005 SNOMEDCT_US_2015_03_01:202634006 SNOMEDCT_US_2015_03_01:202635007 SNOMEDCT_US_2015_03_01:202645009 SNOMEDCT_US_2015_03_01:202647001 SNOMEDCT_US_2015_03_01:203721006 SNOMEDCT_US_2015_03_01:203747002 SNOMEDCT_US_2015_03_01:227588009 SNOMEDCT_US_2015_03_01:267888004 SNOMEDCT_US_2015_03_01:267904003 SNOMEDCT_US_2015_03_01:268051001 SNOMEDCT_US_2015_03_01:268056006 SNOMEDCT_US_2015_03_01:268070006 SNOMEDCT_US_2015_03_01:363162000 SNOMEDCT_US_2015_03_01:371412008 SNOMEDCT_US_2015_03_01:396233005 SNOMEDCT_US_2015_03_01:396275006 SNOMEDCT_US_2015_03_01:399269003 SNOMEDCT_US_2015_03_01:48548006 SNOMEDCT_US_2015_03_01:80843008 SNOMEDCT_US_2015_03_01:8316001 SNOMEDCT_US_2015_03_01:83486002 UMLS_CUI:C0022408 UMLS_CUI:C0157749 ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint disease_ontology Joint ankylosis of the upper arm (disorder) SNOMEDCT_2005_07_31:267932007 Joint ankylosis of the forearm SNOMEDCT_2005_07_31:202300000 Joint ankylosis of the shoulder region SNOMEDCT_2005_07_31:156561005 Ankylosis of joint of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:57137004 Ankylosis of joint of hand (disorder) SNOMEDCT_2005_07_31:56923001 Joint ankylosis of the ankle and/or foot (disorder) SNOMEDCT_2005_07_31:267936005 Ankylosis of joint of lower leg (disorder) SNOMEDCT_2005_07_31:43534008 Ankylosis of multiple joints SNOMEDCT_2005_07_31:156560006 Joint ankylosis of the lower leg SNOMEDCT_2005_07_31:202303003 Joint ankylosis of the pelvic region and thigh SNOMEDCT_2005_07_31:202301001 Joint ankylosis of the hand SNOMEDCT_2005_07_31:156564002 Ankylosis of joint of upper arm (disorder) SNOMEDCT_2005_07_31:9064009 Ankylosis of joint of multiple sites (disorder) SNOMEDCT_2005_07_31:90242006 Ankylosis of joint of shoulder region (disorder) SNOMEDCT_2005_07_31:2890007 Joint ankylosis of the forearm (disorder) SNOMEDCT_2005_07_31:267933002 A bone inflammation disease that is located_in joint. ls:IEDB url:http://en.wikipedia.org/wiki/Arthropathy Joint ankylosis of the ankle and foot SNOMEDCT_2005_07_31:156567009 SNOMEDCT_2005_07_31:202304009 Ankylosis of joint of forearm (disorder) SNOMEDCT_2005_07_31:39147002 Joint ankylosis of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:267934008 Joint ankylosis of the upper arm SNOMEDCT_2005_07_31:202299008 Joint ankylosis of the lower leg (disorder) SNOMEDCT_2005_07_31:267935009 Joint ankylosis of the shoulder region (disorder) SNOMEDCT_2005_07_31:202298000 chondrogenic neoplasm Chondromatous neoplasm (morphologic abnormality) Chondromatous neoplasm NOS (morphologic abnormality) Chondromatous tumor DOID:3810 cartilage neoplasm disease_ontology true Chondromatous neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189889005 Chondromatous tumor NCI2004_11_17:C4755 CSP2005:2019-1220 cartilage neoplasm Chondromatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189884000 mediastinum chondroma Chondroma of mediastinum DOID:3812 disease_ontology true Chondroma of mediastinum NCI2004_11_17:C6596 central nervous system chondroma Chondroma of the CNS DOID:3813 NCI:C7001 UMLS_CUI:C1333019 disease_ontology Chondroma of the CNS NCI2004_11_17:C7001 extraskeletal chondroma DOID:3814 disease_ontology glossopharyngeal nerve paralysis DOID:3816 NCI:C27335 UMLS_CUI:C0919940 disease_ontology cranial nerve palsy Cranial nerve Paralysis Cranial nerve palsy DOID:3817 MSH:D003389 NCI:C26941 SNOMEDCT_US_2015_03_01:73013002 UMLS_CUI:C0151311 disease_ontology Cranial nerve Paralysis NCI2004_11_17:C26941 Cranial nerve palsy SNOMEDCT_2005_07_31:73013002 photoallergic dermatitis DOID:3818 MSH:D017454 Photoallergic contact dermatitis Photoallergic dermatitis (disorder) Photoallergic eczema SNOMEDCT_US_2015_03_01:111209006 SNOMEDCT_US_2015_03_01:238523008 SNOMEDCT_US_2015_03_01:238524002 SNOMEDCT_US_2015_03_01:367334003 UMLS_CUI:C0162824 disease_ontology Photoallergic eczema SNOMEDCT_2005_07_31:367334003 Photoallergic contact dermatitis SNOMEDCT_2005_07_31:238524002 Photoallergic eczema SNOMEDCT_2005_07_31:238523008 Photoallergic dermatitis (disorder) SNOMEDCT_2005_07_31:111209006 toxicodendron dermatitis Contact dermatitis due to Genus Toxicodendron DOID:3819 MSH:D011040 Rhus dermatitis SNOMEDCT_US_2015_03_01:410049000 UMLS_CUI:C0032342 disease_ontology Contact dermatitis due to Genus Toxicodendron SNOMEDCT_2005_07_31:410049000 CSP2005:2716-6989 Rhus dermatitis primary Chlamydiaceae infectious disease DOID:3820 chlamydiaceae infection disease_ontology true CSP2005:0638-2797 chlamydiaceae infection posterior cerebral artery infarction DOID:3821 MSH:D020762 UMLS_CUI:C0752132 disease_ontology Shwartzman phenomenon DOID:3825 MSH:D012790 SNOMEDCT_US_2015_03_01:24453002 Shwartzman reaction (function) UMLS_CUI:C0037018 disease_ontology SNOMEDCT_2005_07_31:24453002 Shwartzman reaction (function) congenital diaphragmatic hernia A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. DOID:3827 Diaphragmatic Hernia ICD10CM:K44 ICD10CM:K44.9 MSH:D006548 NCI:C34687 OMIM:142340 OMIM:222400 OMIM:610187 ORDO:2140 SNOMEDCT_US_2015_03_01:155748004 SNOMEDCT_US_2015_03_01:155750007 SNOMEDCT_US_2015_03_01:196901006 SNOMEDCT_US_2015_03_01:196911004 SNOMEDCT_US_2015_03_01:196912006 SNOMEDCT_US_2015_03_01:266444006 SNOMEDCT_US_2015_03_01:266511003 SNOMEDCT_US_2015_03_01:39839004 UMLS_CUI:C0019284 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology Diaphragmatic Hernia NCI2004_11_17:C34687 A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. url:http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia url:http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia chromophobe adenoma Chromophobe adenoma of the Pituitary gland DOID:3828 MSH:D000238 NCI:C2857 SNOMEDCT_US_2015_03_01:37039006 UMLS_CUI:C0001432 disease_ontology Chromophobe adenoma of the Pituitary gland NCI2004_11_17:C2857 pituitary adenoma DOID:3829 MSH:D010911 NCI:C3329 SNOMEDCT_US_2015_03_01:128664001 SNOMEDCT_US_2015_03_01:154621002 SNOMEDCT_US_2015_03_01:189178001 SNOMEDCT_US_2015_03_01:254956000 SNOMEDCT_US_2015_03_01:269643009 SNOMEDCT_US_2015_03_01:367095008 UMLS_CUI:C0032000 adenoma of the Pituitary gland disease_ontology NCI2004_11_17:C3329 adenoma of the Pituitary gland posttransplantation lymphoproliferative disease DOID:3836 disease_ontology true benign lymphoproliferative disease DOID:3837 disease_ontology true skin lymphoproliferative disease DOID:3838 Lymphoproliferative disorder of skin disease_ontology true Lymphoproliferative disorder of skin NCI2004_11_17:C7614 Wolff-Parkinson-White syndrome Anomalous A-V excitation DOID:10392 DOID:384 ICD10CM:I45.6 ICD9CM:426.7 MSH:D014927 NCI:C35132 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. OMIM:194200 SNOMEDCT_US_2015_03_01:155360000 SNOMEDCT_US_2015_03_01:17869006 SNOMEDCT_US_2015_03_01:195057009 SNOMEDCT_US_2015_03_01:195061003 SNOMEDCT_US_2015_03_01:251115003 SNOMEDCT_US_2015_03_01:266304003 SNOMEDCT_US_2015_03_01:74390002 UMLS_CUI:C0043202 UMLS_CUI:C0392470 Wolff-Parkinson-White pattern (finding) anomalous atrioventricular excitation disease_ontology SNOMEDCT_2005_07_31:251115003 Wolff-Parkinson-White pattern (finding) Anomalous A-V excitation SNOMEDCT_2005_07_31:266304003 craniopharyngioma DOID:3840 MSH:D003397 NCI:C2964 SNOMEDCT_US_2015_03_01:189179009 SNOMEDCT_US_2015_03_01:40009002 UMLS_CUI:C0010276 craniopharyngioma (disorder) craniopharyngioma (morphologic abnormality) disease_ontology neoplasm of Rathke's Pouch SNOMEDCT_2005_07_31:189179009 craniopharyngioma (disorder) NCI2004_11_17:C2964 neoplasm of Rathke's Pouch SNOMEDCT_2005_07_31:40009002 craniopharyngioma (morphologic abnormality) skull base neoplasm DOID:3842 MSH:D019292 NCI:C4676 UMLS_CUI:C0376527 disease_ontology tumors of Skull Base NCI2004_11_17:C4676 tumors of Skull Base diencephalic neoplasm DOID:3843 DOID:6097 NCI:C5125 NCI:C5126 UMLS_CUI:C1333286 UMLS_CUI:C1334576 disease_ontology malignant Diencephalic tumor malignant diencephalic neoplasm tumor of Diencephalon NCI2004_11_17:C5125 tumor of Diencephalon NCI2004_11_17:C5126 malignant Diencephalic tumor pediatric craniopharyngioma DOID:3844 disease_ontology pediatric Rathke's Pouch tumor true NCI2004_11_17:C7816 pediatric Rathke's Pouch tumor childhood intracranial neoplasm DOID:3845 disease_ontology true adamantinous craniopharyngioma Adamantinous Rathke's Pouch tumor Adamantinous craniopharyngioma (morphologic abnormality) DOID:3846 MSH:D003397 NCI:C4726 SNOMEDCT_US_2015_03_01:128781004 SNOMEDCT_US_2015_03_01:134216001 UMLS_CUI:C0431129 craniopharyngioma, adamantinomatous disease_ontology Adamantinous Rathke's Pouch tumor NCI2004_11_17:C4726 Adamantinous craniopharyngioma (morphologic abnormality) SNOMEDCT_2005_07_31:134216001 SNOMEDCT_2005_07_31:128781004 craniopharyngioma, adamantinomatous papillary craniopharyngioma DOID:3847 MSH:D003397 NCI:C4725 Papillary Rathke's Pouch tumor Papillary craniopharyngioma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128782006 SNOMEDCT_US_2015_03_01:134215002 UMLS_CUI:C0431128 craniopharyngioma, papillary (morphologic abnormality) disease_ontology Papillary craniopharyngioma (morphologic abnormality) SNOMEDCT_2005_07_31:134215002 SNOMEDCT_2005_07_31:128782006 craniopharyngioma, papillary (morphologic abnormality) NCI2004_11_17:C4725 Papillary Rathke's Pouch tumor adult craniopharyngioma DOID:3848 adult Rathke's Pouch tumor disease_ontology true NCI2004_11_17:C4010 adult Rathke's Pouch tumor adult intracranial neoplasm DOID:3849 adult intracranial tumor disease_ontology true NCI2004_11_17:C5478 adult intracranial tumor hemangiopericytic tumor DOID:3850 Hemangiopericytic neoplasm Hemangiopericytic neoplasm NOS (morphologic abnormality) NCI:C7076 SNOMEDCT_US_2015_03_01:189866002 SNOMEDCT_US_2015_03_01:189867006 UMLS_CUI:C0476144 disease_ontology Hemangiopericytic neoplasm SNOMEDCT_2005_07_31:189866002 Hemangiopericytic neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189867006 Peutz-Jeghers syndrome Colonic hamartomatous polyp DOID:3852 DOID:4133 DOID:4134 DOID:6252 DOID:6253 ICD10CM:Q85.8 MSH:D010580 NCI:C3324 NCI:C4733 NCI:C7755 OMIM mapping confirmed by DO. [SN]. OMIM:175200 Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine SNOMEDCT_US_2015_03_01:157029009 SNOMEDCT_US_2015_03_01:277161008 SNOMEDCT_US_2015_03_01:53633000 SNOMEDCT_US_2015_03_01:54411001 UMLS_CUI:C0031269 UMLS_CUI:C0265323 UMLS_CUI:C0456487 UMLS_CUI:C1333088 disease_ontology gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma NCI2004_11_17:C7755 Peutz-Jeghers polyp of small Intestine Colonic hamartomatous polyp NCI2004_11_17:C5519 seminal vesicle tumor DOID:3855 NCI:C39908 SNOMEDCT_US_2015_03_01:236740006 Seminal Vesicle neoplasm UMLS_CUI:C0341767 disease_ontology tumor of seminal vesicle (disorder) SNOMEDCT_2005_07_31:236740006 tumor of seminal vesicle (disorder) NCI2004_11_17:C39908 Seminal Vesicle neoplasm male reproductive organ cancer A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. DOID:10284 DOID:3856 ICD10CM:C60-C63 ICD10CM:C63.9 ICD9CM:187.9 MSH:D005834 NCI:C3054 NCI:C8561 SNOMEDCT_US_2015_03_01:126895004 SNOMEDCT_US_2015_03_01:190127000 SNOMEDCT_US_2015_03_01:190130007 SNOMEDCT_US_2015_03_01:363515000 SNOMEDCT_US_2015_03_01:93885006 UMLS_CUI:C0017417 UMLS_CUI:C0153606 disease_ontology male genital cancer male genital neoplasm male reproductive system neoplasm malignant neoplasm of male genital organ or tract malignant neoplasm of male genital organ, NOS malignant neoplasm of male genital organ, site unspecified malignant neoplasm of male genital organ, unspecified (disorder) malignant neoplasm of male genital organs (disorder) malignant tumor of male Reproductive system malignant tumor of male genital organ malignant tumor of male genital organ (disorder) neoplasm of male genital organ tumor of male Reproductive system SNOMEDCT_2005_07_31:190127000 malignant neoplasm of male genital organs (disorder) SNOMEDCT_2005_07_31:190130007 malignant neoplasm of male genital organ, unspecified (disorder) MTH:U001031 malignant tumor of male genital organ SNOMEDCT_2005_07_31:126895004 neoplasm of male genital organ CSP2005:2016-2462 male reproductive system neoplasm ICD9CM_2006:187.9 malignant neoplasm of male genital organ, site unspecified SNOMEDCT_2005_07_31:363515000 malignant tumor of male genital organ (disorder) NCI2004_11_17:C8561 malignant tumor of male Reproductive system SNOMEDCT_2005_07_31:93885006 malignant neoplasm of male genital organ, NOS NCI2004_11_17:C3054 tumor of male Reproductive system A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm large cell medulloblastoma A medulloblastoma that is characterized by cells that are larger than would be normally expected. DOID:3857 NCI:C6904 SNOMEDCT_US_2015_03_01:128790006 UMLS_CUI:C1266180 disease_ontology large cell Medulloblastoma large cell medulloblastoma (morphologic abnormality) NCI2004_11_17:C6904 large cell Medulloblastoma A medulloblastoma that is characterized by cells that are larger than would be normally expected. url:http://en.wikipedia.org/wiki/Large_cell SNOMEDCT_2005_07_31:128790006 large cell medulloblastoma (morphologic abnormality) relapsed medulloblastoma DOID:3859 disease_ontology true postpericardiotomy syndrome DOID:386 Postcardiotomy syndrome disease_ontology true Postcardiotomy syndrome SNOMEDCT_2005_07_31:157793008 cerebellar vermis medulloblastoma DOID:3860 NCI:C5401 UMLS_CUI:C1332903 Vermis Medulloblastoma disease_ontology NCI2004_11_17:C5401 Vermis Medulloblastoma medullomyoblastoma DOID:3861 MSH:D008527 Medullomyoblastoma (morphologic abnormality) NCI:C3706 SNOMEDCT_US_2015_03_01:24604009 UMLS_CUI:C0205833 disease_ontology Medullomyoblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:24604009 FAP associated medulloblastoma DOID:3862 disease_ontology true region 17p13 allelic loss associated medulloblastoma DOID:3863 disease_ontology true adult medulloblastoma DOID:3864 DOID:6380 MSH:D008527 NCI:C4011 NCI:C9373 UMLS_CUI:C0278876 UMLS_CUI:C1332188 adult brain medulloblastoma disease_ontology adult central nervous system primitive neuroectodermal neoplasm DOID:3865 NCI:C5411 UMLS_CUI:C1332196 adult CNS PNET disease_ontology NCI2004_11_17:C5411 adult CNS PNET desmoplastic medulloblastoma DOID:3866 DOID:6926 OMIM mapping confirmed by DO. [SN]. desmoplastic medulloblastoma (morphologic abnormality) desmoplastic nodular medulloblastoma disease_ontology true SNOMEDCT_2005_07_31:32456001 desmoplastic nodular medulloblastoma SNOMEDCT_2005_07_31:32456001 desmoplastic medulloblastoma (morphologic abnormality) nevoid basal cell carcinoma syndrome associated medulloblastoma DOID:3867 disease_ontology true melanotic medulloblastoma DOID:3868 MSH:D008527 Medulloblastoma, melanotic (morphologic abnormality) Melanotic Medulloblastoma NCI:C9497 SNOMEDCT_US_2015_03_01:397380008 SNOMEDCT_US_2015_03_01:83217000 UMLS_CUI:C1275668 disease_ontology Melanotic Medulloblastoma NCI2004_11_17:C9497 Medulloblastoma, melanotic (morphologic abnormality) SNOMEDCT_2005_07_31:397380008 childhood medulloblastoma DOID:3869 MSH:D008527 NCI:C3997 UMLS_CUI:C0278510 disease_ontology pediatric Medulloblastoma NCI2004_11_17:C3997 pediatric Medulloblastoma childhood central nervous system primitive neuroectodermal neoplasm DOID:3870 NCI:C5961 UMLS_CUI:C1332957 disease_ontology pediatric CNS PNET NCI2004_11_17:C5961 pediatric CNS PNET medulloblastoma with leptomeningeal spread DOID:3871 disease_ontology true leptomeningeal metastases DOID:3872 Meningeal carcinomatosis disease_ontology malignant meningitis (disorder) metastatic tumor to the Leptomeninges true SNOMEDCT_2005_07_31:230156002 malignant meningitis (disorder) Meningeal carcinomatosis NCI2004_11_17:C27383 NCI2004_11_17:C3814 metastatic tumor to the Leptomeninges nodular medulloblastoma DOID:3873 NCI:C5407 UMLS_CUI:C1334970 disease_ontology thrombophlebitis A phlebitis that results from a blood clot in the vessel. DOID:1146 DOID:3875 ICD10CM:I80.0 ICD9CM:451.0 MSH:D013924 NCI:C3410 Phlebitis and thrombophlebitis of superficial vessels of lower extremities SNOMEDCT_US_2015_03_01:195401008 SNOMEDCT_US_2015_03_01:195433004 SNOMEDCT_US_2015_03_01:266266001 SNOMEDCT_US_2015_03_01:40283005 SNOMEDCT_US_2015_03_01:64156001 Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein NOS (disorder) Thrombophlebitis of superficial veins of lower extremity (disorder) UMLS_CUI:C0040046 UMLS_CUI:C0265057 disease_ontology ICD9CM_2006:451.0 Phlebitis and thrombophlebitis of superficial vessels of lower extremities A phlebitis that results from a blood clot in the vessel. url:http://en.wikipedia.org/wiki/Thrombophlebitis url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html url:http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm SNOMEDCT_2005_07_31:195401008 Thrombophlebitis of a superficial leg vein NOS (disorder) SNOMEDCT_2005_07_31:40283005 Thrombophlebitis of superficial veins of lower extremity (disorder) colonic pseudo-obstruction DOID:3876 MSH:D003112 SNOMEDCT_US_2015_03_01:35065006 UMLS_CUI:C0009377 disease_ontology primary chronic pseudo-obstruction of colon (disorder) SNOMEDCT_2005_07_31:35065006 primary chronic pseudo-obstruction of colon (disorder) functional colonic disease DOID:3877 MSH:D003109 UMLS_CUI:C0009374 disease_ontology intestinal pseudo-obstruction DOID:3878 MSH:D007418 NCI:C34733 Pseudo-obstruction of intestine (disorder) SNOMEDCT_US_2015_03_01:235825006 UMLS_CUI:C0021847 disease_ontology intestinal Pseudo-obstruction intestine pseudoobstruction CSP2005:1248-5896 intestine pseudoobstruction Pseudo-obstruction of intestine (disorder) SNOMEDCT_2005_07_31:235825006 NCI2004_11_17:C34733 intestinal Pseudo-obstruction Proteus infectious disease DOID:3881 Proteus infection Proteus infection (disorder) Proteus infection NOS (disorder) disease_ontology true Proteus infection (disorder) SNOMEDCT_2005_07_31:186437007 CSP2005:0368-2705 Proteus infection Proteus infection NOS (disorder) SNOMEDCT_2005_07_31:186438002 Lynch syndrome An autosomal dominant disease that is characterized by and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. COCA 1 DOID:0050586 DOID:3040 DOID:3883 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome MSH:D003123 NCI:C8494 OMIM mapping confirmed by DO. [SN]. OMIM:120435 OMIM:609310 OMIM:613244 OMIM:614331 OMIM:614337 OMIM:614350 OMIM:614385 ORDO:144 SNOMEDCT_US_2015_03_01:315058005 UMLS_CUI:C0009405 UMLS_CUI:C1333990 disease_ontology hereditary non-polyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm COCA 1 NCI2004_11_17:C6725 Hereditary Defective Mismatch Repair syndrome NCI2004_11_17:C8494 An autosomal dominant disease that is characterized by and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. url:http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer url:http://ghr.nlm.nih.gov/condition/lynch-syndrome HNPCC - hereditary nonpolyposis colon cancer SNOMEDCT_2005_07_31:315058005 acute intermittent porphyria AIP - acute intermittent porphyria DOID:3890 MSH:D017118 NCI:C84536 OMIM:176000 Pyrroloporphyria SNOMEDCT_US_2015_03_01:190914003 SNOMEDCT_US_2015_03_01:234422006 SNOMEDCT_US_2015_03_01:90842001 UMLS_CUI:C0162565 disease_ontology porphyria intermittent acute MTHICD9_2006:277.1 Pyrroloporphyria CSP2005:1849-7674 porphyria intermittent acute AIP - acute intermittent porphyria SNOMEDCT_2005_07_31:190914003 placental insufficiency A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. DOID:3891 MSH:D010927 SNOMEDCT_US_2015_03_01:156185006 SNOMEDCT_US_2015_03_01:199610002 SNOMEDCT_US_2015_03_01:237292005 SNOMEDCT_US_2015_03_01:267337006 UMLS_CUI:C0032051 disease_ontology A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. url:http://en.wikipedia.org/wiki/Placental_insufficiency insulinoma An adenoma that is located_in the pancreas and is characterized by overproduction of insulin. DOID:3892 DOID:3903 Insulin-Producing tumor of Islet cells Islet cell adenoma (morphologic abnormality) MSH:D007340 MSH:D007516 NCI:C3140 NCI:C65184 NCI:C95598 SNOMEDCT_US_2015_03_01:134154009 SNOMEDCT_US_2015_03_01:189586007 SNOMEDCT_US_2015_03_01:25324008 SNOMEDCT_US_2015_03_01:302822000 SNOMEDCT_US_2015_03_01:76345009 UMLS_CUI:C0021670 UMLS_CUI:C0022134 disease_ontology An adenoma that is located_in the pancreas and is characterized by overproduction of insulin. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001424/ Insulin-Producing tumor of Islet cells NCI2004_11_17:C3140 Islet cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:76345009 hidrocystoma Apocrine Cystadenoma Apocrine cystadenoma Apocrine cystadenoma (disorder) DOID:3893 Eccrine Cystadenoma Eccrine hidrocystoma of skin (disorder) Hidrocystoma (morphologic abnormality) MSH:D018251 NCI:C3760 SNOMEDCT_US_2015_03_01:80549000 UMLS_CUI:C0206672 disease_ontology Apocrine cystadenoma (disorder) SNOMEDCT_2005_07_31:254725004 Apocrine cystadenoma SNOMEDCT_2005_07_31:36318001 Apocrine Cystadenoma NCI2004_11_17:C3760 Eccrine hidrocystoma of skin (disorder) SNOMEDCT_2005_07_31:254716005 Eccrine Cystadenoma NCI2004_11_17:C7565 Hidrocystoma (morphologic abnormality) SNOMEDCT_2005_07_31:80549000 apocrine adenoma Apocrine adenoma Apocrine adenoma (disorder) Apocrine adenoma (morphologic abnormality) DOID:3895 NCI:C27527 NCI:C4168 SNOMEDCT_US_2015_03_01:307596009 SNOMEDCT_US_2015_03_01:36318001 UMLS_CUI:C0334345 disease_ontology tubular Apocrine adenoma NCI2004_11_17:C27527 tubular Apocrine adenoma Apocrine adenoma (disorder) SNOMEDCT_2005_07_31:307596009 Apocrine adenoma NCI2004_11_17:C4168 Apocrine adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:36318001 hidradenoma DOID:3896 Hidradenoma Hidradenoma morphology Hidradenoma of skin (disorder) MSH:D006607 NCI:C7560 NCI:C7563 SNOMEDCT_US_2015_03_01:189051001 SNOMEDCT_US_2015_03_01:189664001 SNOMEDCT_US_2015_03_01:253020008 SNOMEDCT_US_2015_03_01:254719003 SNOMEDCT_US_2015_03_01:255182002 SNOMEDCT_US_2015_03_01:307574003 SNOMEDCT_US_2015_03_01:400099008 SNOMEDCT_US_2015_03_01:81393009 Sweat gland adenoma Sweat gland adenoma (morphologic abnormality) Syringoadenoma Syringoadenoma (disorder) UMLS_CUI:C0019522 disease_ontology Hidradenoma morphology SNOMEDCT_2005_07_31:307574003 Hidradenoma morphology SNOMEDCT_2005_07_31:189664001 Hidradenoma of skin (disorder) SNOMEDCT_2005_07_31:253020008 SNOMEDCT_2005_07_31:255182002 Syringoadenoma (disorder) SNOMEDCT_2005_07_31:189051001 Syringoadenoma SNOMEDCT_2005_07_31:81393009 Sweat gland adenoma (morphologic abnormality) NCI2004_11_17:C7560 Sweat gland adenoma Hidradenoma NCI2004_11_17:C7563 skin appendage adenoma Adnexal adenoma DOID:3898 adenoma of skin appendage disease_ontology skin appendage adenoma (morphologic abnormality) true SNOMEDCT_2005_07_31:189660005 skin appendage adenoma (morphologic abnormality) Adnexal adenoma NCI2004_11_17:C7580 SNOMEDCT_2005_07_31:55681005 skin appendage adenoma (morphologic abnormality) skin appendage neoplasm Adnexal and skin appendage neoplasm (morphologic abnormality) Adnexal and skin appendage neoplasm NOS (morphologic abnormality) Adnexal and skin appendage tumor (qualifier value) DOID:3899 disease_ontology true Adnexal and skin appendage tumor (qualifier value) SNOMEDCT_2005_07_31:134319006 Adnexal and skin appendage neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189658008 Adnexal and skin appendage neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189675002 obstetric venous problem Antenatal deep vein thrombosis Antenatal deep vein thrombosis NOS (disorder) Antenatal deep vein thrombosis unspecified (disorder) Antepartum deep phlebothrombosis (disorder) DOID:11956 DOID:11957 DOID:13384 DOID:13385 DOID:390 Deep phlebothrombosis, antepartum Deep phlebothrombosis, antepartum, unspecified as to episode of care Deep phlebothrombosis, antepartum, with delivery Deep phlebothrombosis, postpartum, with delivery antepartum deep-vein thrombosis disease_ontology postpartum deep-vein thrombosis true Antepartum deep phlebothrombosis (disorder) SNOMEDCT_2005_07_31:49956009 Antenatal deep vein thrombosis SNOMEDCT_2005_07_31:156268003 Antenatal deep vein thrombosis unspecified (disorder) SNOMEDCT_2005_07_31:200231004 Antenatal deep vein thrombosis NOS (disorder) SNOMEDCT_2005_07_31:200234007 Deep phlebothrombosis, antepartum ICD9CM_2006:671.3 ICD9CM_2006:671.33 Deep phlebothrombosis, antepartum, unspecified as to episode of care ICD9CM_2006:671.30 vulvitis DOID:3901 ICD10CM:N76.2 MSH:D014847 SNOMEDCT_US_2015_03_01:155981006 SNOMEDCT_US_2015_03_01:198214007 SNOMEDCT_US_2015_03_01:266586003 SNOMEDCT_US_2015_03_01:266655004 SNOMEDCT_US_2015_03_01:63144007 UMLS_CUI:C0042996 Vulvitis (disorder) Vulvitis - non sp. Vulvitis NOS Vulvitis unspecified Vulvitis unspecified (disorder) disease_ontology MTHICD9_2006:616.10 Vulvitis NOS SNOMEDCT_2005_07_31:155981006 Vulvitis - non sp. SNOMEDCT_2005_07_31:198214007 Vulvitis unspecified SNOMEDCT_2005_07_31:266655004 Vulvitis - non sp. SNOMEDCT_2005_07_31:63144007 Vulvitis (disorder) SNOMEDCT_2005_07_31:266586003 Vulvitis unspecified (disorder) pseudorabies A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. Aujeszky's disease DOID:3902 disease_ontology mad itch true A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. url:http://en.wikipedia.org/wiki/Pseudorabies url:http://www.plospathogens.org/article/info:doi%2F10.1371%2Fjournal.ppat.1000640 bronchus carcinoma A bronchus cancer that has_material_basis_in epithelial cells. BC - Bronchogenic carcinoma CSP:2017-6052 DOID:3904 MSH:D002283 NCI:C35875 SNOMEDCT_US_2015_03_01:154485001 SNOMEDCT_US_2015_03_01:254622008 SNOMEDCT_US_2015_03_01:269561006 SNOMEDCT_US_2015_03_01:363493006 UMLS_CUI:C0007121 disease_ontology A bronchus cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma BC - Bronchogenic carcinoma SNOMEDCT_2005_07_31:254622008 lung carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. DOID:3905 EFO:0001071 ICD10CM:C34.90 NCI:C4878 OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2015_03_01:154485001 SNOMEDCT_US_2015_03_01:187875007 SNOMEDCT_US_2015_03_01:269561006 UMLS_CUI:C0684249 cancer of lung carcinoma of lung disease_ontology A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. url:https://merck.com/mmpe/sec05/ch062/ch062b.html NCI2004_11_17:C4878 cancer of lung bronchial neoplasm DOID:3906 MSH:D001984 SNOMEDCT_US_2015_03_01:126705004 UMLS_CUI:C0006264 bronchus neoplasm disease_ontology neoplasm of bronchus (disorder) SNOMEDCT_2005_07_31:126705004 neoplasm of bronchus (disorder) CSP2005:2017-5516 bronchus neoplasm lung squamous cell carcinoma A non-small cell lung carcinoma that has_material_basis_in the squamous cell. DOID:3907 Epidermoid cell carcinoma of the lung NCI:C3493 SNOMEDCT_US_2015_03_01:254634000 UMLS_CUI:C0149782 disease_ontology squamous cell carcinoma of lung A non-small cell lung carcinoma that has_material_basis_in the squamous cell. url:http://cancergenome.nih.gov/cancersselected/lungsquamouscell url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung url:http://www.cancer.gov/dictionary?CdrID=46595 Epidermoid cell carcinoma of the lung NCI2004_11_17:C3493 non-small cell lung carcinoma A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. DOID:3908 EFO:0003060 KEGG:05223 MSH:D002289 NCI:C2926 NSCLC Non-small cell lung cancer (disorder) SNOMEDCT_US_2015_03_01:254637007 UMLS_CUI:C0007131 disease_ontology NCI2004_11_17:C2926 NSCLC A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. url:http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma Non-small cell lung cancer (disorder) SNOMEDCT_2005_07_31:254637007 CSP2005:4005-0042 NSCLC bronchogenic lung adenocarcinoma Bronchiogenic adenocarcinoma DOID:3909 disease_ontology Bronchiogenic adenocarcinoma NCI2004_11_17:C7948 lung adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. DOID:3910 DOID:4826 EFO:0000571 MSH:C538231 NCI:C27745 NCI:C3512 SNOMEDCT_US_2015_03_01:254626006 UMLS_CUI:C0152013 UMLS_CUI:C1335060 adenocarcinoma of lung disease_ontology nonsmall cell adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung progeria DOID:3911 HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease Hutchinson-Gilford syndrome (disorder) ICD10CM:E34.8 MSH:D011371 NCI:C34951 OMIM mapping confirmed by DO. [SN]. OMIM:176670 Progeria (disorder) Progeria syndrome (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:190590004 SNOMEDCT_US_2015_03_01:238869000 SNOMEDCT_US_2015_03_01:238870004 SNOMEDCT_US_2015_03_01:46238000 UMLS_CUI:C0033300 disease_ontology Hutchinson-Gilford syndrome (disorder) SNOMEDCT_2005_07_31:238870004 CSP2005:0071-4237 Hutchinson Gilford syndrome Progeria syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:46238000 Progeria (disorder) SNOMEDCT_2005_07_31:190590004 Hutchinson-Gilford disease NCI2004_11_17:C34951 serous cystadenoma of ovary DOID:3914 Ovarian serous Cystadenoma disease_ontology true NCI2004_11_17:C4511 Ovarian serous Cystadenoma borderline malignancy serous cystadenoma Atypical proliferating serous tumour DOID:3916 Low Malignancy Potential serous Cystadenoma disease_ontology true Low Malignancy Potential serous Cystadenoma NCI2004_11_17:C4177 Atypical proliferating serous tumour SNOMEDCT_2005_07_31:128849004 pancreatic serous cystadenoma DOID:3917 NCI:C5712 UMLS_CUI:C1335316 disease_ontology pancreatic cystadenoma DOID:3918 NCI:C4374 SNOMEDCT_US_2015_03_01:235967003 UMLS_CUI:C0341486 disease_ontology pancreatic serous cystic neoplasm DOID:3919 NCI:C41248 UMLS_CUI:C1518875 disease_ontology diffuse lipomatosis DOID:3923 NCI:C6504 UMLS_CUI:C1333298 disease_ontology main bronchus cancer Ca main bronchus Ca main bronchus (disorder) DOID:3924 ICD10CM:C34.0 ICD9CM:162.2 SNOMEDCT_US_2015_03_01:154487009 SNOMEDCT_US_2015_03_01:187856002 SNOMEDCT_US_2015_03_01:187859009 SNOMEDCT_US_2015_03_01:269563009 SNOMEDCT_US_2015_03_01:372065009 UMLS_CUI:C0153490 disease_ontology malignant neoplasm of main bronchus malignant neoplasm of main bronchus (disorder) malignant neoplasm of main bronchus NOS (disorder) SNOMEDCT_2005_07_31:187856002 malignant neoplasm of main bronchus ICD9CM_2006:162.2 malignant neoplasm of main bronchus Ca main bronchus SNOMEDCT_2005_07_31:154487009 SNOMEDCT_2005_07_31:187859009 malignant neoplasm of main bronchus NOS (disorder) SNOMEDCT_2005_07_31:372065009 malignant neoplasm of main bronchus (disorder) Ca main bronchus (disorder) SNOMEDCT_2005_07_31:269563009 steroid lipomatosis DOID:3925 NCI:C27487 UMLS_CUI:C1336506 disease_ontology mediastinal lipomatosis DOID:3926 NCI:C27488 UMLS_CUI:C1334662 disease_ontology pelvic lipomatosis DOID:3927 MSH:C535549 NCI:C27486 SNOMEDCT_US_2015_03_01:190802005 UMLS_CUI:C0406608 disease_ontology pelvic lipomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:190802005 pelvic lipomatosis (morphologic abnormality) adiposis dolorosa DOID:3928 Dercum disease ICD10CM:E88.2 MSH:D000274 NCI:C84540 OMIM mapping confirmed by DO. [SN]. OMIM:103200 SNOMEDCT_US_2015_03_01:71404003 UMLS_CUI:C0001529 disease_ontology otitis interna A otitis which involves inflammation of the inner ear. DOID:3930 NCI:C27339 UMLS_CUI:C1168225 disease_ontology inner ear infection A otitis which involves inflammation of the inner ear. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna anterior compartment syndrome Anterior compartment syndrome DOID:3933 ICD10CM:M76.81 MSH:D000868 SNOMEDCT_US_2015_03_01:12694001 SNOMEDCT_US_2015_03_01:157669006 SNOMEDCT_US_2015_03_01:212379008 SNOMEDCT_US_2015_03_01:269407005 UMLS_CUI:C0003152 disease_ontology Anterior compartment syndrome SNOMEDCT_2005_07_31:157669006 Anterior compartment syndrome SNOMEDCT_2005_07_31:269407005 Anterior compartment syndrome SNOMEDCT_2005_07_31:212379008 lipomatous cancer DOID:3939 NCI:C4501 SNOMEDCT_US_2015_03_01:254828009 UMLS_CUI:C0346117 disease_ontology malignant lipomatous tumor (disorder) malignant tumor of Adipose tissue SNOMEDCT_2005_07_31:254828009 malignant lipomatous tumor (disorder) NCI2004_11_17:C4501 malignant tumor of Adipose tissue Arenaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. DOID:3944 disease_ontology true A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. url:http://en.wikipedia.org/wiki/Arenaviridae pituitary-dependent Cushing's disease DOID:3946 ICD10CM:E24.0 MSH:D047748 Overproduction of ACTH SNOMEDCT_US_2015_03_01:190502001 SNOMEDCT_US_2015_03_01:9545009 UMLS_CUI:C0221406 disease_ontology pituitary-dependent Cushing disease MTHICD9_2006:255.3 Overproduction of ACTH adrenal gland hyperfunction Adrenocortical hyperfunction DOID:3947 MSH:D000308 NCI:C113208 NCI:C113210 Overproduction of cortisol SNOMEDCT_US_2015_03_01:111561007 SNOMEDCT_US_2015_03_01:190520005 SNOMEDCT_US_2015_03_01:275437005 SNOMEDCT_US_2015_03_01:47270006 UMLS_CUI:C0001622 disease_ontology disorder of corticoadrenal overactivity hyperadrenalism hypercortisolism hypercortisolism (disorder) MTHICD9_2006:255.0 Overproduction of cortisol SNOMEDCT_2005_07_31:47270006 hypercortisolism (disorder) CSP2005:0060-4042 hyperadrenalism CSP2005:4006-0047 hypercortisolism Adrenocortical hyperfunction SNOMEDCT_2005_07_31:190520005 SNOMEDCT_2005_07_31:275437005 disorder of corticoadrenal overactivity SNOMEDCT_2005_07_31:111561007 disorder of corticoadrenal overactivity adrenocortical carcinoma Adrenal cortical carcinoma (morphologic abnormality) An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:3948 MSH:D018268 NCI:C9325 OMIM:202300 SNOMEDCT_US_2015_03_01:2227007 SNOMEDCT_US_2015_03_01:255035007 UMLS_CUI:C0206686 carcinoma of the Adrenal cortex disease_ontology NCI2004_11_17:C9325 carcinoma of the Adrenal cortex Adrenal cortical carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:2227007 An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma url:http://www.cancer.gov/cancertopics/types/adrenocortical adrenal carcinoma An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:3950 SNOMEDCT_US_2015_03_01:255035007 UMLS_CUI:C1370740 carcinoma of the Adrenal gland disease_ontology NCI2004_11_17:C9324 carcinoma of the Adrenal gland An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma acute myocarditis DOID:3951 ICD10CM:I40 ICD10CM:I40.9 ICD9CM:422 ICD9CM:422.90 NCI:C35206 SNOMEDCT_US_2015_03_01:155336004 SNOMEDCT_US_2015_03_01:194953001 SNOMEDCT_US_2015_03_01:194961006 SNOMEDCT_US_2015_03_01:195569005 SNOMEDCT_US_2015_03_01:46701001 UMLS_CUI:C0155686 disease_ontology adrenal cortex disease DOID:3952 MSH:D000303 SNOMEDCT_US_2015_03_01:129636003 UMLS_CUI:C0001614 disease_ontology disorder of adrenal cortex (disorder) SNOMEDCT_2005_07_31:129636003 disorder of adrenal cortex (disorder) adrenal gland cancer An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. DOID:11007 DOID:3953 ICD10CM:C74 ICD10CM:C74.9 ICD9CM:194.0 MSH:D000310 NCI:C2859 NCI:C9338 SNOMEDCT_US_2015_03_01:127021009 SNOMEDCT_US_2015_03_01:188337000 SNOMEDCT_US_2015_03_01:188338005 SNOMEDCT_US_2015_03_01:363355002 SNOMEDCT_US_2015_03_01:93665005 UMLS_CUI:C0001624 UMLS_CUI:C0750887 adrenal cancer adrenal neoplasm disease_ontology malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland (disorder) tumor of the Adrenal gland ICD9CM_2006:194.0 SNOMEDCT_2005_07_31:188337000 SNOMEDCT_2005_07_31:93665005 malignant neoplasm of adrenal gland An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. url:http://en.wikipedia.org/wiki/Adrenal_gland SNOMEDCT_2005_07_31:127021009 neoplasm of adrenal gland (disorder) CSP2005:2009-6040 adrenal neoplasm NCI2004_11_17:C9338 malignant Adrenal tumor NCI2004_11_17:C2859 tumor of the Adrenal gland adrenal cortical adenocarcinoma Adrenal cortex adenocarcinoma Adrenal cortical adenocarcinoma An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. DOID:3959 disease_ontology Adrenal cortical adenocarcinoma SNOMEDCT_2005_07_31:2227007 Adrenal cortex adenocarcinoma NCI2004_11_17:C9326 Adrenal cortical adenocarcinoma SNOMEDCT_2005_07_31:255035007 An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma Loeffler endocarditis A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. DOID:396 Eosinophilic Endomyocardial disease ICD10CM:I42.3 NCI:C27044 SNOMEDCT_US_2015_03_01:33258008 UMLS_CUI:C0264834 disease_ontology Eosinophilic Endomyocardial disease NCI2004_11_17:C27044 A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis follicular thyroid carcinoma A thyroid carcinoma that has_material_basis_in follicular cells. DOID:3962 Follicular adenocarcinoma (morphologic abnormality) Follicular adenocarcinoma, well differentiated (morphologic abnormality) Follicular carcinoma Follicular carcinoma of the Thyroid gland Follicular thyroid carcinoma (disorder) MSH:D018263 NCI:C8054 OMIM mapping confirmed by DO. [SN]. OMIM:188470 SNOMEDCT_US_2015_03_01:189642005 SNOMEDCT_US_2015_03_01:255028004 SNOMEDCT_US_2015_03_01:28173006 SNOMEDCT_US_2015_03_01:5257006 Thyroid adenocarcinoma UMLS_CUI:C0206682 disease_ontology Follicular adenocarcinoma, well differentiated (morphologic abnormality) SNOMEDCT_2005_07_31:28173006 Follicular adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:5257006 Follicular carcinoma of the Thyroid gland NCI2004_11_17:C8054 NCI2004_11_17:C27380 Thyroid adenocarcinoma Follicular thyroid carcinoma (disorder) SNOMEDCT_2005_07_31:255028004 A thyroid carcinoma that has_material_basis_in follicular cells. url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer Follicular carcinoma SNOMEDCT_2005_07_31:189642005 thyroid carcinoma A thyroid cancer that has_material_basis_in epithelial cells. DOID:3963 EFO:0002892 MSH:D013964 NCI:C4815 UMLS_CUI:C0549473 disease_ontology head and neck cancer, Thyroid A thyroid cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI2004_11_17:C4815 head and neck cancer, Thyroid trabecular follicular adenocarcinoma DOID:3964 Follicular adenocarcinoma, trabecular (morphologic abnormality) SNOMEDCT_US_2015_03_01:72174007 Trabecular Follicular carcinoma UMLS_CUI:C0334327 disease_ontology Follicular adenocarcinoma, trabecular (morphologic abnormality) SNOMEDCT_2005_07_31:72174007 NCI2004_11_17:C7385 Trabecular Follicular carcinoma Merkel cell carcinoma DOID:3965 NCI:C4068 SNOMEDCT_US_2015_03_01:29792007 Trabecular adenocarcinoma (morphologic abnormality) UMLS_CUI:C0302182 disease_ontology trabecular carcinoma SNOMEDCT_2005_07_31:29792007 Trabecular adenocarcinoma (morphologic abnormality) papillary follicular thyroid adenocarcinoma DOID:3968 MSH:D018265 NCI:C7380 SNOMEDCT_US_2015_03_01:189643000 SNOMEDCT_US_2015_03_01:21968007 UMLS_CUI:C0206683 disease_ontology papillary thyroid carcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. DOID:3969 MSH:C536915 NCI:C4035 OMIM mapping confirmed by DO. [SN]. OMIM:188550 Papillary carcinoma of the Thyroid gland SNOMEDCT_US_2015_03_01:255029007 SNOMEDCT_US_2015_03_01:4797003 UMLS_CUI:C0238463 disease_ontology A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. url:http://cancergenome.nih.gov/cancersselected/thyroid url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer url:http://www.ncbi.nlm.nih.gov/pubmed/21455196 NCI2004_11_17:C4035 Papillary carcinoma of the Thyroid gland restrictive cardiomyopathy Cardiomyopathy, constrictive DOID:397 Familial restrictive cardiomyopathy ICD10CM:I42.5 MSH:D002313 NCI:C62798 OMIM:115210 OMIM:609578 OMIM:612422 OMIM:615248 ORDO:75249 Restrictive cardiomyopathy Restrictive cardiomyopathy (disorder) SNOMEDCT_US_2015_03_01:389996009 SNOMEDCT_US_2015_03_01:415295002 SNOMEDCT_US_2015_03_01:90828009 UMLS_CUI:C0007196 Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. disease_ontology primary restrictive cardiomyopathy (disorder) Familial restrictive cardiomyopathy OMIM:115210 Cardiomyopathy, constrictive MTHICD9_2006:425.4 SNOMEDCT_2005_07_31:90828009 primary restrictive cardiomyopathy (disorder) Restrictive cardiomyopathy SNOMEDCT_2005_07_31:389996009 Restrictive cardiomyopathy (disorder) SNOMEDCT_2005_07_31:415295002 thyroid medullary carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. DOID:3973 MSH:C536914 Medullary carcinoma of the Thyroid gland Medullary thyroid carcinoma (disorder) NCI:C3879 SNOMEDCT_US_2015_03_01:128916007 SNOMEDCT_US_2015_03_01:255032005 SNOMEDCT_US_2015_03_01:32913002 UMLS_CUI:C0238462 Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour disease_ontology medullary thyroid carcinoma SNOMEDCT_2005_07_31:32913002 Ultimobranchial thyroid tumor Medullary thyroid carcinoma (disorder) SNOMEDCT_2005_07_31:255032005 SNOMEDCT_2005_07_31:128916007 Ultimobranchial thyroid tumour Medullary carcinoma of the Thyroid gland NCI2004_11_17:C3879 CSP2005:4003-0036 medullary thyroid carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer medullary carcinoma DOID:3974 Medullary carcinoma Medullary carcinoma (morphologic abnormality) Medullary carcinoma NOS (morphologic abnormality) disease_ontology true Medullary carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189711009 Medullary carcinoma NCI2004_11_17:C8998 Medullary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:32913002 extrinsic cardiomyopathy A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. DOID:3978 ICD9CM:425.8 SNOMEDCT_US_2015_03_01:195580005 UMLS_CUI:C0155699 disease_ontology A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html cutaneous tuberculosis DOID:1031 DOID:398 Tuberculosis cutis Tuberculosis of skin (disorder) Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination disease_ontology true tuberculosis of skin and subcutaneous cellular tissue MTHICD9_2006:017.0 Tuberculosis cutis SNOMEDCT_2005_07_31:66986005 Tuberculosis of skin (disorder) ICD9CM_2006:017.00 Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination pantothenate kinase-associated neurodegeneration A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. DOID:3981 Hallervorden-Spatz disease Hallervorden-Spatz syndrome ICD10CM:G23.0 MSH:D006211 NCI:C84988 NCI:C8967 OMIM mapping confirmed by DO. [SN]. OMIM:234200 OMIM:256600 OMIM:300894 OMIM:606159 OMIM:610217 OMIM:614298 OMIM:615643 Pigmentary pallidal degeneration (disorder) SNOMEDCT_US_2015_03_01:2992000 UMLS_CUI:C0018523 brain Iron Accumulation type I syndrome disease_ontology neurodegeneration with brain iron accumulation 1 A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration url:http://www.ninds.nih.gov/disorders/nbia/nbia.htm NCI2004_11_17:C8967 brain Iron Accumulation type I syndrome Hallervorden-Spatz disease MTHICD9_2006:333.0 Pigmentary pallidal degeneration (disorder) SNOMEDCT_2005_07_31:2992000 Meige syndrome A cranio-facial dystonia that is accompanied by blepharospasm. DOID:3982 MSH:D008538 Meige syndrome (disorder) SNOMEDCT_US_2015_03_01:230325003 UMLS_CUI:C0025183 disease_ontology Meige syndrome (disorder) SNOMEDCT_2005_07_31:230325003 A cranio-facial dystonia that is accompanied by blepharospasm. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm oesophagostomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. DOID:3983 Infection by Oesophagostomum MSH:D009814 SNOMEDCT_US_2015_03_01:22500005 UMLS_CUI:C0028887 disease_ontology Infection by Oesophagostomum SNOMEDCT_2005_07_31:22500005 A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. url:http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm Strongylus equinus infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. DOID:3984 Infection by Strongylus equinus (disorder) disease_ontology equine strongyle infectious disease true Infection by Strongylus equinus (disorder) SNOMEDCT_2005_07_31:67509002 A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf ostertagiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. DOID:3985 MSH:D010029 UMLS_CUI:C0029471 disease_ontology A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. url:http://jvdi.org/cgi/reprint/1/2/195.pdf tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. DOID:10096 DOID:12688 DOID:12691 DOID:399 DOID:415 DOID:9901 DOID:9902 EFOpat_id:863 MSH:D014375 SNOMEDCT_US_2015_03_01:15202009 Tuberculosis of mother, with delivery Tuberculosis pregnancy Tuberculosis, antepartum Tuberculosis, postpartum UMLS_CUI:C0041295 disease_ontology tuberculous abscess A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. url:http://www.merckmanuals.com/home/sec17/ch193/ch193a.html url:www.uphs.upenn.edu/bugdrug/antibiotic_manual/atstbdx99.pdf urinary system cancer An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. DOID:3996 ICD10CM:C68.9 ICD9CM:189.9 SNOMEDCT_US_2015_03_01:190132004 UMLS_CUI:C0348371 disease_ontology An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system urinary tract infiltrating transitional cell carcinoma DOID:3997 disease_ontology true Bartholin's gland transitional cell carcinoma Bartholin gland transitional cell carcinoma DOID:3998 NCI:C40297 UMLS_CUI:C1511053 disease_ontology Bartholin's gland carcinoma A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. Bartholin gland carcinoma Bartholin's gland cancer Bartholin's gland carcinoma (morphologic abnormality) DOID:3999 NCI:C9055 SNOMEDCT_US_2015_03_01:276876007 SNOMEDCT_US_2015_03_01:399533005 UMLS_CUI:C0349561 carcinoma of Bartholin's gland carcinoma of Bartholin's gland (disorder) disease_ontology A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. url:http://en.wikipedia.org/wiki/Bartholin%27s_gland url:http://en.wikipedia.org/wiki/Carcinoma Bartholin's gland carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:399533005 Bartholin's gland cancer NCI2004_11_17:C9055 SNOMEDCT_2005_07_31:276876007 carcinoma of Bartholin's gland (disorder) disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. DOID:4 MSH:D004194 NCI:C2991 SNOMEDCT_US_2015_03_01:64572001 UMLS_CUI:C0012634 disease_ontology A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. url:http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf ovary transitional cell carcinoma DOID:2637 DOID:4000 DOID:4002 NCI:C40089 NCI:C5240 NCI:C7280 UMLS_CUI:C1335184 UMLS_CUI:C1335185 UMLS_CUI:C1518237 disease_ontology malignant ovarian transitional cell neoplasm ovarian transitional cell cancer ovarian transitional cell neoplasm transitional cell carcinoma of Ovary NCI2004_11_17:C5240 transitional cell carcinoma of Ovary ovarian carcinoma DOID:4001 EFO:0001075 MSH:C538090 NCI:C4908 OMIM mapping confirmed by DO. [SN]. Ovarian carcinoma UMLS_CUI:C0677886 disease_ontology NCI2004_11_17:C4908 Ovarian carcinoma Schneiderian carcinoma Cylindrical cell carcinoma DOID:4003 NCI:C54287 SNOMEDCT_US_2015_03_01:5600009 UMLS_CUI:C0334270 disease_ontology Cylindrical cell carcinoma SNOMEDCT_2005_07_31:5600009 endometrial transitional cell carcinoma DOID:4005 NCI:C40154 UMLS_CUI:C1516864 disease_ontology bladder transitional cell carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. DOID:4006 NCI:C39851 SNOMEDCT_US_2015_03_01:255109008 SNOMEDCT_US_2015_03_01:393562002 UMLS_CUI:C0279680 disease_ontology transitional cell carcinoma of bladder (disorder) urinary bladder Urothelial carcinoma urothelial bladder carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. url:http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma url:http://www.cancer.gov/dictionary?cdrid=46629 NCI2004_11_17:C39851 urinary bladder Urothelial carcinoma SNOMEDCT_2005_07_31:255109008 transitional cell carcinoma of bladder (disorder) bladder carcinoma A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4007 EFO:0000292 NCI:C4912 SNOMEDCT_US_2015_03_01:154540000 SNOMEDCT_US_2015_03_01:255108000 SNOMEDCT_US_2015_03_01:269607003 UMLS_CUI:C0699885 carcinoma OF BLADDER carcinoma bladder carcinoma of bladder carcinoma of bladder (disorder) carcinoma of urinary bladder disease_ontology SNOMEDCT_2005_07_31:154540000 carcinoma bladder NCI2004_11_17:C4912 carcinoma of urinary bladder MTH:108 carcinoma OF BLADDER A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://nci.nih.gov/cancertopics/types/bladder SNOMEDCT_2005_07_31:269607003 carcinoma bladder SNOMEDCT_2005_07_31:255108000 carcinoma of bladder (disorder) fallopian tube transitional cell carcinoma DOID:4008 NCI:C40104 UMLS_CUI:C1517128 disease_ontology renal pelvis and ureter transitional cell cancer DOID:4009 Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology true NCI2004_11_17:C7716 Urothelial carcinoma of the renal Pelvis and Ureter multidrug-resistant tuberculosis A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. DOID:401 MSH:D018088 SNOMEDCT_US_2015_03_01:423092005 UMLS_CUI:C0206526 disease_ontology A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. url:http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis renal pelvis and ureter cancer DOID:4010 disease_ontology true prostate transitional cell carcinoma DOID:4011 disease_ontology transitional cell carcinoma of prostate NCI2004_11_17:C5540 transitional cell carcinoma of prostate papillary transitional carcinoma A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. DOID:4012 NCI:C4122 Papillary transitional cell carcinoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:12400006 UMLS_CUI:C0334274 disease_ontology Papillary transitional cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:12400006 A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. url:http://esynopsis.uchc.edu/eAtlas/GU/908.htm urethra transitional cell carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. DOID:4013 NCI:C6166 UMLS_CUI:C0863015 disease_ontology urethral transitional cell carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. url:http://cancer.emedtv.com/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29.html NCI2004_11_17:C6166 urethral transitional cell carcinoma sarcomatoid transitional cell carcinoma A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. DOID:4014 NCI:C4120 SNOMEDCT_US_2015_03_01:112676006 UMLS_CUI:C0334271 disease_ontology transitional cell carcinoma, sarcomatoid transitional spindle cell carcinoma SNOMEDCT_2005_07_31:112676006 transitional cell carcinoma, sarcomatoid A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. url:http://www.sciencedirect.com/science/article/pii/S0090429505013439 url:http://www.tua.org.tw/magazine/FileM/dw2008331112526_10734.pdf NCI2004_11_17:C4120 transitional spindle cell carcinoma spindle cell carcinoma A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. DOID:4015 MSH:D002277 NCI:C27004 SNOMEDCT_US_2015_03_01:23109009 SNOMEDCT_US_2015_03_01:65692009 UMLS_CUI:C0205697 disease_ontology sarcomatoid carcinoma spindle cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:65692009 spindle cell carcinoma (morphologic abnormality) NCI2004_11_17:C27004 sarcomatoid carcinoma A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. url:http://medical-dictionary.thefreedictionary.com/spindle+cell+carcinoma SNOMEDCT_2005_07_31:23109009 sarcomatoid carcinoma oral tuberculosis A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. DOID:402 MSH:D014393 Oral tuberculosis (disorder) SNOMEDCT_US_2015_03_01:235067001 UMLS_CUI:C0041323 disease_ontology A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. url:http://www.ncbi.nlm.nih.gov/pubmed/16900894 Oral tuberculosis (disorder) SNOMEDCT_2005_07_31:235067001 psychomotor disease DOID:4020 disease_ontology psychomotor disorder true CSP2005:2484-1601 psychomotor disorder ureterocele DOID:4022 MSH:D014518 OMIM mapping confirmed by DO. [LS]. OMIM:191650 SNOMEDCT_US_2015_03_01:12818004 UMLS_CUI:C0041960 disease_ontology linitis plastica DOID:4023 Leather-bottle stomach Linitis plastica (morphologic abnormality) MSH:D008039 NCI:C3190 SNOMEDCT_US_2015_03_01:307594007 SNOMEDCT_US_2015_03_01:37995004 UMLS_CUI:C0023743 disease_ontology Leather-bottle stomach SNOMEDCT_2005_07_31:307594007 Linitis plastica (morphologic abnormality) SNOMEDCT_2005_07_31:37995004 scirrhous adenocarcinoma An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. DOID:4024 MSH:D002293 NCI:C2928 SNOMEDCT_US_2015_03_01:4584002 Scirrhous adenocarcinoma (morphologic abnormality) UMLS_CUI:C0007135 adenocarcinoma with Productive Fibrosis disease_ontology SNOMEDCT_2005_07_31:4584002 Scirrhous adenocarcinoma (morphologic abnormality) An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. url:http://www.online-medical-dictionary.org/Scirrhous+Adenocarcinoma.asp?q=Scirrhous+Adenocarcinoma NCI2004_11_17:C2928 adenocarcinoma with Productive Fibrosis steatitis DOID:4025 MSH:D013231 UMLS_CUI:C0038235 disease_ontology vitamin E deficiency DOID:4026 disease_ontology true fetal distress DOID:4027 FETAL DISTRESS Fetal distress Fetal distress (finding) Fetal distress NOS Fetal distress NOS (finding) Fetal distress unspecified (finding) disease_ontology true Fetal distress (finding) SNOMEDCT_2005_07_31:130955003 Fetal distress SNOMEDCT_2005_07_31:267336002 Fetal distress NOS (finding) SNOMEDCT_2005_07_31:199604002 Fetal distress NOS SNOMEDCT_2005_07_31:157103006 Fetal distress SNOMEDCT_2005_07_31:268873007 Fetal distress unspecified (finding) SNOMEDCT_2005_07_31:199591006 Fetal distress SNOMEDCT_2005_07_31:157098009 FETAL DISTRESS MTH:NOCODE angioma serpiginosum A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. Angioma serpiginosum of skin DOID:4028 ICD10CM:L81.7 MSH:C536366 NCI:C3926 OMIM:106050 OMIM:300652 OMIM:600652 ORDO:95429 SNOMEDCT_US_2015_03_01:11790000 SNOMEDCT_US_2015_03_01:195382003 SNOMEDCT_US_2015_03_01:49465005 UMLS_CUI:C0263637 Xref MGI. disease_ontology A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. url:http://www.dermnetnz.org/vascular/angioma-serpiginosa.html Angioma serpiginosum of skin SNOMEDCT_2005_07_31:195382003 gastritis A stomach disease that is an inflammation of the lining of the stomach. DOID:4029 DOID:4032 DOID:8697 DOID:8845 DOID:9190 Erosive Gastritis Erosive gastropathy (disorder) GASTRITIS HEMORRHAGIC Gastritis (disorder) Gastritis [Ambiguous] Gastritis unspecified (disorder) Hemorrhagic Gastritis ICD10CM:K29.7 Idiopathic erosive/hemorrhagic gastritis (disorder) MSH:D005756 NCI:C26780 SNOMEDCT_US_2015_03_01:155711008 SNOMEDCT_US_2015_03_01:196743006 SNOMEDCT_US_2015_03_01:235653009 SNOMEDCT_US_2015_03_01:266503008 SNOMEDCT_US_2015_03_01:4556007 UMLS_CUI:C0017152 acute Gastritis acute gastric mucosal erosion (disorder) acute gastritis with hemorrhage acute gastritis without mention of hemorrhage acute gastritis, with hemorrhage acute gastritis, without mention of hemorrhage acute haemorrhagic gastritis chronic Gastritis chronic gastritis chronic gastritis (disorder) chronic gastritis NOS (disorder) disease_ontology Hemorrhagic Gastritis NCI2004_11_17:C26928 Erosive Gastritis NCI2004_11_17:C27013 SNOMEDCT_2005_07_31:196736000 chronic gastritis NOS (disorder) MTHICD9_2006:535.01 acute gastritis with hemorrhage Gastritis (disorder) SNOMEDCT_2005_07_31:4556007 Erosive gastropathy (disorder) SNOMEDCT_2005_07_31:413216002 Idiopathic erosive/hemorrhagic gastritis (disorder) SNOMEDCT_2005_07_31:18338004 Gastritis unspecified (disorder) SNOMEDCT_2005_07_31:196743006 GASTRITIS HEMORRHAGIC MTH:NOCODE MTHICD9_2006:535.00 acute gastritis without mention of hemorrhage NCI2004_11_17:C26929 chronic Gastritis SNOMEDCT_2005_07_31:18665000 acute gastric mucosal erosion (disorder) A stomach disease that is an inflammation of the lining of the stomach. url:http://en.wikipedia.org/wiki/Gastritis Gastritis [Ambiguous] SNOMEDCT_2005_07_31:235653009 SNOMEDCT_2005_07_31:196732003 acute haemorrhagic gastritis SNOMEDCT_2005_07_31:8493009 chronic gastritis (disorder) NCI2004_11_17:C26933 acute Gastritis mouth disease A gastrointestinal system disease that is located_in the mouth. DOID:403 MSH:D009059 NCI:C27641 NCI:C3240 SNOMEDCT_US_2015_03_01:118938008 SNOMEDCT_US_2015_03_01:155630004 SNOMEDCT_US_2015_03_01:266484002 UMLS_CUI:C0026636 disease_ontology A gastrointestinal system disease that is located_in the mouth. url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology eosinophilic gastritis DOID:4030 Eosinophilic Gastritis Eosinophilic gastritis (disorder) Eosinophilic gastritis [Ambiguous] ICD9CM:535.7 MSH:C535952 NCI:C27052 SNOMEDCT_US_2015_03_01:196738004 SNOMEDCT_US_2015_03_01:66329006 UMLS_CUI:C0267154 disease_ontology Eosinophilic gastritis (disorder) SNOMEDCT_2005_07_31:66329006 Eosinophilic gastritis [Ambiguous] SNOMEDCT_2005_07_31:196738004 Eosinophilic Gastritis NCI2004_11_17:C27052 eosinophilic gastroenteritis DOID:4031 Eosinophilic Gastroenteritis Eosinophilic gastroenteritis Eosinophilic gastroenteritis (disorder) ICD9CM:558.41 MSH:C535952 NCI:C35330 SNOMEDCT_US_2015_03_01:32183007 SNOMEDCT_US_2015_03_01:359804008 SNOMEDCT_US_2015_03_01:68270003 UMLS_CUI:C1262481 disease_ontology Eosinophilic gastroenteritis (disorder) SNOMEDCT_2005_07_31:359804008 Eosinophilic gastroenteritis SNOMEDCT_2005_07_31:32183007 Eosinophilic Gastroenteritis NCI2004_11_17:C35330 bacterial gastritis A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. DOID:4033 NCI:C27340 UMLS_CUI:C0948039 disease_ontology A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. url:http://digestive.niddk.nih.gov/ddiseases/pubs/gastritis/ url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html fungal gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. DOID:4034 NCI:C27342 UMLS_CUI:C0948638 disease_ontology A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. url:url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html lymphocytic gastritis DOID:4035 Lymphocytic Gastritis Lymphocytic gastritis (disorder) Lymphocytic gastritis [Ambiguous] NCI:C27051 SNOMEDCT_US_2015_03_01:235658000 SNOMEDCT_US_2015_03_01:360375007 UMLS_CUI:C1283271 disease_ontology Lymphocytic gastritis (disorder) SNOMEDCT_2005_07_31:360375007 Lymphocytic Gastritis NCI2004_11_17:C27051 Lymphocytic gastritis [Ambiguous] SNOMEDCT_2005_07_31:235658000 Helicobacter pylori gastritis A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. DOID:4036 Helicobacter gastritis Helicobacter-associated gastritis (disorder) disease_ontology true Helicobacter gastritis SNOMEDCT_2005_07_31:196741008 Helicobacter gastritis SNOMEDCT_2005_07_31:186143000 A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. url:http://jcp.bmjjournals.com/content/54/10/774.full url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html Helicobacter-associated gastritis (disorder) SNOMEDCT_2005_07_31:89538001 Helicobacter gastritis SNOMEDCT_2005_07_31:155716003 necrotizing gastritis DOID:4037 NCI:C27329 UMLS_CUI:C0877152 disease_ontology granulomatous gastritis DOID:4038 ICD10CM:K29.6 NCI:C27348 UMLS_CUI:C1112577 disease_ontology Crohn's associated gastritis DOID:4039 disease_ontology true gastrointestinal tuberculosis An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. DOID:404 DOID:9802 MSH:D014385 SNOMEDCT_US_2015_03_01:154286002 SNOMEDCT_US_2015_03_01:186228005 SNOMEDCT_US_2015_03_01:240376003 Tuberculosis of gastrointestinal tract Tuberculosis of gastrointestinal tract (disorder) Tuberculosis of gastrointestinal tract NOS (disorder) Tuberculosis of intestines, peritoneum and mesenteric glands (disorder) Tuberculosis of intestines, peritoneum, and mesenteric glands UMLS_CUI:C0041312 disease_ontology tuberculosis of intestines, peritoneum and mesenteric glands SNOMEDCT_2005_07_31:186228005 Tuberculosis of gastrointestinal tract NOS (disorder) SNOMEDCT_2005_07_31:186225008 Tuberculosis of intestines, peritoneum and mesenteric glands (disorder) SNOMEDCT_2005_07_31:154286002 Tuberculosis of gastrointestinal tract SNOMEDCT_2005_07_31:240376003 Tuberculosis of gastrointestinal tract (disorder) ICD9CM_2006:014 Tuberculosis of intestines, peritoneum, and mesenteric glands An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. url:http://emedicine.medscape.com/article/376015-overview url:http://smj.sma.org.sg/5006/5006pe1.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/12864956 skeletal muscle cancer DOID:4043 NCI:C6516 UMLS_CUI:C1334619 disease_ontology malignant tumor of Skeletal Muscle NCI2004_11_17:C6516 malignant tumor of Skeletal Muscle skeletal muscle neoplasm DOID:4044 NCI:C6514 SNOMEDCT_US_2015_03_01:189798004 SNOMEDCT_US_2015_03_01:189800006 SNOMEDCT_US_2015_03_01:402877008 SNOMEDCT_US_2015_03_01:699955004 UMLS_CUI:C1335971 disease_ontology tumor of Skeletal Muscle NCI2004_11_17:C6514 tumor of Skeletal Muscle muscle cancer A musculoskeletal system cancer that is located_in muscle. DOID:4045 DOID:4046 ICD10CM:C49 MSH:D009217 MSH:D019042 Myosarcoma (morphologic abnormality) NCI:C4883 SNOMEDCT_US_2015_03_01:20667008 SNOMEDCT_US_2015_03_01:363495004 SNOMEDCT_US_2015_03_01:93913006 UMLS_CUI:C0027095 UMLS_CUI:C0684743 disease_ontology malignant neoplasm of muscle, NOS malignant tumor of muscle (disorder) malignant tumor of the Muscle myosarcoma A musculoskeletal system cancer that is located_in muscle. url:http://en.wikipedia.org/wiki/Muscle NCI2004_11_17:C4883 malignant tumor of the Muscle SNOMEDCT_2005_07_31:93913006 malignant neoplasm of muscle, NOS SNOMEDCT_2005_07_31:363495004 malignant tumor of muscle (disorder) Myosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:20667008 liver rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. DOID:4047 NCI:C5834 Rhabdomyosarcoma of Liver UMLS_CUI:C1333975 disease_ontology NCI2004_11_17:C5834 Rhabdomyosarcoma of Liver A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 central nervous system rhabdomyosarcoma DOID:4048 NCI:C5464 Rhabdomyosarcoma of the CNS UMLS_CUI:C1332891 disease_ontology NCI2004_11_17:C5464 Rhabdomyosarcoma of the CNS mediastinum rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents. DOID:4049 NCI:C6617 Rhabdomyosarcoma of mediastinum UMLS_CUI:C1334677 disease_ontology NCI2004_11_17:C6617 Rhabdomyosarcoma of mediastinum A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents. url:http://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=655;epage=656;aulast=Moorthy mediastinum sarcoma A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. DOID:4050 NCI:C6606 UMLS_CUI:C1334678 disease_ontology sarcoma of mediastinum NCI2004_11_17:C6606 sarcoma of mediastinum A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. url:http://www.searchmedica.com/search.html?q=mediastinal%20sarcoma alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma Alveolar rhabdomyosarcoma (disorder) Alveolar rhabdomyosarcoma (morphologic abnormality) DOID:4051 DOID:4382 MSH:D018232 NCI:C3749 NCI:C7958 OMIM mapping confirmed by DO. [SN]. OMIM:268220 SNOMEDCT_US_2015_03_01:404053004 SNOMEDCT_US_2015_03_01:63449009 UMLS_CUI:C0206655 UMLS_CUI:C0279613 alveolar childhood rhabdomyosarcoma disease_ontology pediatric Alveolar Rhabdomyosarcoma NCI2004_11_17:C7958 pediatric Alveolar Rhabdomyosarcoma Alveolar Rhabdomyosarcoma NCI2004_11_17:C3749 Alveolar rhabdomyosarcoma (disorder) SNOMEDCT_2005_07_31:404053004 Alveolar rhabdomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:63449009 rhabdomyosarcoma recurrent DOID:4052 disease_ontology relapsed Rhabdomyosarcoma true NCI2004_11_17:C8824 relapsed Rhabdomyosarcoma rectum rhabdomyosarcoma A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. DOID:4053 NCI:C5627 Rhabdomyosarcoma of rectum UMLS_CUI:C1335687 disease_ontology A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma NCI2004_11_17:C5627 Rhabdomyosarcoma of rectum prostate sarcoma A prostate cancer that is located_in the prostate. DOID:4054 NCI:C7731 UMLS_CUI:C0238393 disease_ontology sarcoma of the prostate A prostate cancer that is located_in the prostate. url:http://www.searchmedica.com/search.html?q=prostate%20sarcoma NCI2004_11_17:C7731 sarcoma of the prostate ectomesenchymoma DOID:4055 NCI:C4716 Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) SNOMEDCT_US_2015_03_01:128750008 UMLS_CUI:C0431111 disease_ontology Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) SNOMEDCT_2005_07_31:128750008 adult rhabdomyosarcoma DOID:4056 disease_ontology true gallbladder rhabdomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. DOID:4057 NCI:C5839 Rhabdomyosarcoma of the gallbladder UMLS_CUI:C1333756 disease_ontology A gallbladder sarcoma that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:http://gut.bmj.com/content/35/6/854 NCI2004_11_17:C5839 Rhabdomyosarcoma of the gallbladder gallbladder sarcoma A sarcoma that is located_in the gallbladder. DOID:4058 NCI:C5736 UMLS_CUI:C1333757 disease_ontology malignant mesenchymal tumor of gallbladder A sarcoma that is located_in the gallbladder. url:http://www.searchmedica.com/search.html?q=gallbladder%20sarcoma&c=pc&ss=defLink&fr=true NCI2004_11_17:C5736 malignant mesenchymal tumor of gallbladder ovary rhabdomyosarcoma DOID:4059 NCI:C5236 Rhabdomyosarcoma of Ovary UMLS_CUI:C1335176 disease_ontology NCI2004_11_17:C5236 Rhabdomyosarcoma of Ovary breast rhabdomyosarcoma DOID:4060 NCI:C5190 Rhabdomyosarcoma of the breast UMLS_CUI:C1332637 disease_ontology NCI2004_11_17:C5190 Rhabdomyosarcoma of the breast testis rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. DOID:4061 NCI:C6378 Rhabdomyosarcoma of testis UMLS_CUI:C1336726 disease_ontology NCI2004_11_17:C6378 Rhabdomyosarcoma of testis A testis sarcoma that arises from mesenchymal cells and is located_in the testis. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21470524 testis sarcoma A sarcoma and malignant neoplasm of testis that is located_in the testis. DOID:4062 NCI:C6359 UMLS_CUI:C1336727 disease_ontology sarcoma of testis NCI2004_11_17:C6359 sarcoma of testis A sarcoma and malignant neoplasm of testis that is located_in the testis. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss= bile duct sarcoma A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. DOID:4064 NCI:C5029 UMLS_CUI:C2205442 disease_ontology sarcoma of the bile duct NCI2004_11_17:C5029 sarcoma of the bile duct A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Sarcoma_botryoides mixed type rhabdomyosarcoma DOID:4065 SNOMEDCT_US_2015_03_01:62383007 UMLS_CUI:C0334481 disease_ontology mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma mixed type Rhabdomyosarcoma NCI2004_11_17:C4259 mixed type Rhabdomyosarcoma SNOMEDCT_2005_07_31:62383007 mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma anus rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. DOID:4066 NCI:C5610 UMLS_CUI:C1332276 disease_ontology rhabdomyosarcoma of anus A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://wiki.medpedia.com/Childhood_Rhabdomyosarcoma NCI2004_11_17:C5610 rhabdomyosarcoma of anus anus sarcoma A sarcoma and malignant neoplasm of anus that is located_in the anus. DOID:4067 NCI:C5611 UMLS_CUI:C1332277 disease_ontology sarcoma of anus A sarcoma and malignant neoplasm of anus that is located_in the anus. url:http://en.wikipedia.org/wiki/Sarcoma NCI2004_11_17:C5611 sarcoma of anus hepatic tuberculosis A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. DOID:407 MSH:D014386 SNOMEDCT_US_2015_03_01:186273003 Tuberculosis of liver (disorder) UMLS_CUI:C0041313 disease_ontology A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. url:http://lrsitbrd.nic.in/IJTB/Year%201994/July%201994/July%201994%20B.pdf SNOMEDCT_2005_07_31:186273003 Tuberculosis of liver (disorder) duodenogastric reflux DOID:4071 Duodenogastric reflux (finding) MSH:D004383 SNOMEDCT_US_2015_03_01:9733003 UMLS_CUI:C0013299 disease_ontology Duodenogastric reflux (finding) SNOMEDCT_2005_07_31:9733003 duodenal disease DOID:4072 MSH:D004378 SNOMEDCT_US_2015_03_01:196598004 SNOMEDCT_US_2015_03_01:52182008 UMLS_CUI:C0013289 disease_ontology duodenum disorder CSP2005:1248-4501 duodenum disorder pancreatic cystadenocarcinoma DOID:4073 NCI:C3874 SNOMEDCT_US_2015_03_01:235966007 UMLS_CUI:C0238337 cystadenocarcinoma of pancreas (disorder) disease_ontology SNOMEDCT_2005_07_31:235966007 cystadenocarcinoma of pancreas (disorder) pancreas adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. DOID:4074 NCI:C8294 SNOMEDCT_US_2015_03_01:700423003 UMLS_CUI:C0281361 adenocarcinoma of the pancreas disease_ontology pancreatic adenocarcinoma NCI2004_11_17:C8294 pancreatic adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma bile duct cystadenocarcinoma DOID:4075 NCI:C4130 SNOMEDCT_US_2015_03_01:50422007 UMLS_CUI:C0334286 bile duct cystadenocarcinoma (morphologic abnormality) biliary cystadenocarcinoma disease_ontology SNOMEDCT_2005_07_31:50422007 bile duct cystadenocarcinoma (morphologic abnormality) NCI2004_11_17:C4130 biliary cystadenocarcinoma pleomorphic adenoma of the breast DOID:4076 disease_ontology true metastasizing mixed tumor of salivary gland DOID:4077 disease_ontology true tricuspid valve stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. DOID:4078 MSH:D014264 NCI:C50783 SNOMEDCT_US_2015_03_01:155346002 SNOMEDCT_US_2015_03_01:266296006 SNOMEDCT_US_2015_03_01:49915006 Tricuspid stenosis Tricuspid valve stenosis (disorder) UMLS_CUI:C0040963 disease_ontology MTHICD9_2006:397.0 Tricuspid stenosis SNOMEDCT_2005_07_31:266296006 Tricuspid stenosis SNOMEDCT_2005_07_31:155346002 Tricuspid stenosis SNOMEDCT_2005_07_31:49915006 Tricuspid valve stenosis (disorder) A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis heart valve disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). DOID:4079 DOID:989 MSH:D006349 MSH:D016127 NCI:C45525 SNOMEDCT_US_2015_03_01:195013005 SNOMEDCT_US_2015_03_01:368009 SNOMEDCT_US_2015_03_01:398995000 UMLS_CUI:C0018824 UMLS_CUI:C0079485 Valvular heart disease (disorder) disease_ontology A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). url:http://en.wikipedia.org/wiki/Heart_valve_disease SNOMEDCT_2005_07_31:195013005 Valvular heart disease (disorder) tricuspid valve insufficiency A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. DOID:4080 MSH:D014262 NCI:C50842 NCI:C50843 SNOMEDCT_US_2015_03_01:111287006 SNOMEDCT_US_2015_03_01:155347006 SNOMEDCT_US_2015_03_01:251009000 SNOMEDCT_US_2015_03_01:266298007 Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation (disorder) UMLS_CUI:C0040961 disease_ontology SNOMEDCT_2005_07_31:266298007 Tricuspid incompetence SNOMEDCT_2005_07_31:111287006 Tricuspid valve regurgitation (disorder) MTHICD9_2006:397.0 Tricuspid regurgitation SNOMEDCT_2005_07_31:155347006 Tricuspid incompetence A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency SNOMEDCT_2005_07_31:251009000 Tricuspid regurgitation testicular trophoblastic tumor DOID:4084 NCI:C39934 UMLS_CUI:C1515301 disease_ontology trophoblastic neoplasm A germ cell and embryonal cancer that derives_from trophoblastic tissue. DOID:4085 MSH:D014328 NCI:C3422 SNOMEDCT_US_2015_03_01:115234004 SNOMEDCT_US_2015_03_01:134334000 SNOMEDCT_US_2015_03_01:189855009 SNOMEDCT_US_2015_03_01:189858006 Trophoblastic neoplasm (morphologic abnormality) Trophoblastic neoplasm NOS (morphologic abnormality) Trophoblastic tumor Trophoblastic tumor (qualifier value) UMLS_CUI:C0041182 disease_ontology SNOMEDCT_2005_07_31:134334000 Trophoblastic tumor (qualifier value) SNOMEDCT_2005_07_31:115234004 Trophoblastic neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189858006 Trophoblastic neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189855009 Trophoblastic neoplasm (morphologic abnormality) NCI2004_11_17:C3422 Trophoblastic tumor A germ cell and embryonal cancer that derives_from trophoblastic tissue. url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm testicular germ cell tumor non-seminomatous DOID:4086 NCI:C9313 UMLS_CUI:C1336724 disease_ontology testicular pure germ cell tumor DOID:4087 NCI:C39915 UMLS_CUI:C1514608 disease_ontology Torovirus infectious disease A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. DOID:4088 disease_ontology true A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. url:http://www.expasy.org/viralzone/all_by_species/127.html liver disease DOID:2164 DOID:2165 DOID:409 DOID:46 ICD10CM:K70-K77 ICD10CM:K76.9 ICD9CM:573.9 MSH:D008107 NCI:C3196 SNOMEDCT_US_2015_03_01:155807008 SNOMEDCT_US_2015_03_01:155817003 SNOMEDCT_US_2015_03_01:155822003 SNOMEDCT_US_2015_03_01:197375001 SNOMEDCT_US_2015_03_01:197551000 SNOMEDCT_US_2015_03_01:235856003 SNOMEDCT_US_2015_03_01:266535008 SNOMEDCT_US_2015_03_01:62857009 UMLS_CUI:C0023895 disease_ontology disorder of liver (disorder) hepatic disorder NCI2004_11_17:C3196 hepatic disorder SNOMEDCT_2005_07_31:235856003 disorder of liver (disorder) agnosia A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. DOID:4019 DOID:4090 Dyspraxia (finding) Dyspraxia syndrome ICD10CM:R48.1 ICD10CM:R48.2 MSH:D000377 MSH:D001072 NCI:C84542 SNOMEDCT_US_2015_03_01:158320000 SNOMEDCT_US_2015_03_01:158322008 SNOMEDCT_US_2015_03_01:192146008 SNOMEDCT_US_2015_03_01:206989009 SNOMEDCT_US_2015_03_01:206991001 SNOMEDCT_US_2015_03_01:250058008 SNOMEDCT_US_2015_03_01:271724003 SNOMEDCT_US_2015_03_01:42341009 SNOMEDCT_US_2015_03_01:68345001 SNOMEDCT_US_2015_03_01:6950007 UMLS_CUI:C0001816 UMLS_CUI:C0003635 disease_ontology Dyspraxia syndrome MTHICD9_2006:315.4 SNOMEDCT_2005_07_31:192146008 Dyspraxia (finding) SNOMEDCT_2005_07_31:6950007 A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. url:http://en.wikipedia.org/wiki/Agnosia Caliciviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. DOID:4091 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. url:http://en.wikipedia.org/wiki/Caliciviridae vesicular exanthema of swine A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. DOID:4092 VES disease_ontology true SNOMEDCT_2005_07_31:17811000 VES A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm metastatic squamous cell carcinoma DOID:4099 disease_ontology metastatic squamous cell carcinoma metastatic squamous cell carcinoma (disorder) squamous cell carcinoma, metastatic (morphologic abnormality) squamous cell carcinoma, metastatic NOS (morphologic abnormality) true SNOMEDCT_2005_07_31:403906006 metastatic squamous cell carcinoma (disorder) NCI2004_11_17:C4104 metastatic squamous cell carcinoma SNOMEDCT_2005_07_31:189567004 squamous cell carcinoma, metastatic NOS (morphologic abnormality) SNOMEDCT_2005_07_31:64204000 squamous cell carcinoma, metastatic (morphologic abnormality) tuberculous ascites DOID:410 Tuberculous Ascites Tuberculous ascites (disorder) disease_ontology true SNOMEDCT_2005_07_31:4501007 Tuberculous ascites (disorder) NCI2004_11_17:C27076 Tuberculous Ascites secondary carcinoma DOID:4102 disease_ontology secondary carcinoma secondary carcinoma NOS (disorder) true SNOMEDCT_2005_07_31:79282002 secondary carcinoma SNOMEDCT_2005_07_31:287689004 secondary carcinoma NOS (disorder) rinderpest A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. DOID:4104 cattle plague disease_ontology steppe murrain true A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. url:http://en.wikipedia.org/wiki/Rinderpest canine distemper A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. DOID:4105 disease_ontology true A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. url:http://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp commensal Bacteroidaceae infectious disease DOID:4106 disease_ontology true primary Flavobacteriaceae infectious disease DOID:4107 disease_ontology true tick infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. DOID:4109 MSH:D013984 UMLS_CUI:C0040196 disease_ontology A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. url:http://en.wikipedia.org/wiki/Tick url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm bovine tuberculosis Bovine tuberculosis (disorder) DOID:411 Infection due to Mycobacterium bovis (disorder) disease_ontology true Bovine tuberculosis (disorder) SNOMEDCT_2005_07_31:61888006 Infection due to Mycobacterium bovis (disorder) SNOMEDCT_2005_07_31:373437006 parasitic ectoparasitic infectious disease A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. DOID:4110 MSH:D004478 UMLS_CUI:C0013578 disease_ontology ectoparasitism CSP2005:2214-2667 ectoparasitism A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. url:http://en.wikipedia.org/wiki/Ectoparasitic_infestation cervical adenosarcoma A cervical carcinosarcoma that is located_in the cervix. DOID:4111 NCI:C40229 UMLS_CUI:C1516426 cervical mullerian adenosarcoma disease_ontology A cervical carcinosarcoma that is located_in the cervix. url:http://dx.doi.org/10.1016/j.ygyno.2006.12.029 cervical carcinosarcoma DOID:4112 DOID:4431 DOID:6173 NCI:C36097 NCI:C40226 NCI:C40228 UMLS_CUI:C1332917 UMLS_CUI:C1516420 UMLS_CUI:C1518168 cervical malignant mixed Mullerian tumor cervical malignant mixed mesodermal mullerian tumor cervical mixed epithelial and mesenchymal neoplasm disease_ontology uterine corpus adenosarcoma An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. DOID:4113 NCI:C6336 UMLS_CUI:C1336917 adenosarcoma of uterine corpus disease_ontology uterine Corpus mullerian adenosarcoma An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm NCI2004_11_17:C6336 uterine Corpus mullerian adenosarcoma uterine body mixed cancer A uterine corpus cancer that has_material_basis_in more than one type of cell. DOID:4114 NCI:C6311 UMLS_CUI:C1334628 disease_ontology malignant mixed tumor of Corpus Uteri A uterine corpus cancer that has_material_basis_in more than one type of cell. url:http://en.wikipedia.org/wiki/Uterine_cancer NCI2004_11_17:C6311 malignant mixed tumor of Corpus Uteri ovarian mesodermal adenosarcoma An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary. DOID:4115 NCI:C7317 Ovarian mullerian Adenosarcoma UMLS_CUI:C1335169 disease_ontology An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary. url:http://www.google.com/search?q=ovarian+mesodermal+adenosarcoma&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla:en-US:official&client=firefox-a NCI2004_11_17:C7317 Ovarian mullerian Adenosarcoma vaginal adenosarcoma A vaginal carcinosarcoma derives_from the glands that line the uterus. DOID:4117 NCI:C40277 UMLS_CUI:C1519914 disease_ontology A vaginal carcinosarcoma derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm colon neuroendocrine neoplasm Colonic neuroendocrine tumor DOID:4118 NCI:C5697 UMLS_CUI:C1333097 disease_ontology Colonic neuroendocrine tumor NCI2004_11_17:C5697 intestinal neuroendocrine benign tumor DOID:4119 NCI:C5695 UMLS_CUI:C1334231 disease_ontology neuroendocrine tumor of Intestine NCI2004_11_17:C5695 neuroendocrine tumor of Intestine atypical Mycobacterium infectious disease Atypical mycobacterium infection NOS DOID:412 Infection due to mycobacterium, non-TB Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder) Mycobacterial infection, NOS (excluding tuberculosis and leprosy) disease_ontology true Infection due to mycobacterium, non-TB SNOMEDCT_2005_07_31:373087006 Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder) SNOMEDCT_2005_07_31:111811007 Mycobacterial infection, NOS (excluding tuberculosis and leprosy) SNOMEDCT_2005_07_31:88415009 Atypical mycobacterium infection NOS MTHICD9_2006:031.9 Infection due to mycobacterium, non-TB SNOMEDCT_2005_07_31:111812000 West Nile virus infectious disease A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. DOID:4121 disease_ontology true A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. url:http://en.wikipedia.org/wiki/West_Nile_virus url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm nail disease An integumentary system disease that is located_in nail. DOID:4123 ICD10CM:L60 ICD10CM:L60.9 ICD9CM:703 ICD9CM:703.9 MSH:D009260 SNOMEDCT_US_2015_03_01:156401005 SNOMEDCT_US_2015_03_01:17790008 SNOMEDCT_US_2015_03_01:201127007 SNOMEDCT_US_2015_03_01:267861009 UMLS_CUI:C0027339 disease_ontology An integumentary system disease that is located_in nail. url:http://en.wikipedia.org/wiki/Nail_disease avian tuberculosis A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. Avian tuberculosis (disorder) DOID:413 Infection due to Mycobacterium avium (disorder) disease_ontology true Avian tuberculosis (disorder) SNOMEDCT_2005_07_31:55356004 Avian tuberculosis (disorder) SNOMEDCT_2005_07_31:371684009 Infection due to Mycobacterium avium (disorder) SNOMEDCT_2005_07_31:371685005 A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. url:http://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf erythrasma DOID:4131 Erythrasma (disorder) Erythrasma (disorder) [Ambiguous] ICD10CM:L08.1 Infection due to Corynebacterium minutissimum (disorder) MSH:D004894 SNOMEDCT_US_2015_03_01:111797001 SNOMEDCT_US_2015_03_01:154314007 SNOMEDCT_US_2015_03_01:186393009 SNOMEDCT_US_2015_03_01:200726000 SNOMEDCT_US_2015_03_01:238418005 SNOMEDCT_US_2015_03_01:266185008 UMLS_CUI:C0014752 disease_ontology Infection due to Corynebacterium minutissimum (disorder) SNOMEDCT_2005_07_31:264207005 Erythrasma (disorder) [Ambiguous] SNOMEDCT_2005_07_31:111797001 Erythrasma (disorder) SNOMEDCT_2005_07_31:238418005 myxosarcoma DOID:4136 MSH:D009236 Myxosarcoma (morphologic abnormality) NCI:C3255 SNOMEDCT_US_2015_03_01:28351005 UMLS_CUI:C0027155 disease_ontology Myxosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:28351005 common bile duct disease DOID:4137 MSH:D003137 UMLS_CUI:C0009440 disease_ontology bile duct disease DOID:4138 MSH:D001649 NCI:C96716 SNOMEDCT_US_2015_03_01:118926004 SNOMEDCT_US_2015_03_01:197455006 UMLS_CUI:C0005395 bile duct disorder NOS (disorder) disease_ontology disorder of bile duct (disorder) SNOMEDCT_2005_07_31:118926004 disorder of bile duct (disorder) SNOMEDCT_2005_07_31:197455006 bile duct disorder NOS (disorder) cardiovascular tuberculosis DOID:414 disease_ontology true biliary dyskinesia A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. DOID:4139 DOID:4140 HP:0012396 MSH:D001657 SNOMEDCT_US_2015_03_01:197432008 SNOMEDCT_US_2015_03_01:43469007 UMLS_CUI:C0005416 disease_ontology sphincter of oddi dysfunction A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. url:http://en.wikipedia.org/wiki/Biliary_dyskinesia intraorbital meningioma A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. DOID:4141 MSH:D008579 NCI:C6778 UMLS_CUI:C1334261 disease_ontology A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. url:http://www.mayfieldclinic.com/pe-meni.htm meningioma by site DOID:4142 disease_ontology true orbital cancer A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. DOID:4143 DOID:9984 ICD10CM:C69.6 ICD9CM:190.1 MSH:D009918 NCI:C3290 NCI:C3562 SNOMEDCT_US_2015_03_01:127003006 SNOMEDCT_US_2015_03_01:188270008 SNOMEDCT_US_2015_03_01:363462005 SNOMEDCT_US_2015_03_01:93932000 UMLS_CUI:C0029185 UMLS_CUI:C0153626 disease_ontology malignant neoplasm of orbit neoplasm of orbit proper (disorder) orbit cancer orbital tumor NCI2004_11_17:C3290 orbital tumor A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. url:http://eyecancer.com/Patient/Condition.aspx?nID=19&Category=Orbital+Tumors&Condition=General+Information+About+Orbital+Tumors ICD9CM_2006:190.1 malignant neoplasm of orbit SNOMEDCT_2005_07_31:127003006 neoplasm of orbit proper (disorder) herpes zoster dermatitis DOID:4144 Herpes zoster dermatitis (disorder) disease_ontology true Herpes zoster dermatitis (disorder) SNOMEDCT_2005_07_31:400020001 gastrointestinal adenoma DOID:4147 GI adenoma NCI:C36207 UMLS_CUI:C0948101 disease_ontology gastrointestinal neuroendocrine benign tumor DOID:4148 NCI:C27721 UMLS_CUI:C1333799 disease_ontology skull base chordoma A chordoma that is located_in the skull base. Chordoma of the Skull Base DOID:4151 NCI:C5453 UMLS_CUI:C1335975 disease_ontology A chordoma that is located_in the skull base. url:http://www.bcm.edu/oto/grand/10192.html Chordoma of the Skull Base NCI2004_11_17:C5453 chondroid chordoma A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. Chondroid chordoma (morphologic abnormality) DOID:4152 NCI:C6902 SNOMEDCT_US_2015_03_01:128784007 UMLS_CUI:C1266173 disease_ontology A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. url:http://www.bcm.edu/oto/grand/10192.html Chondroid chordoma (morphologic abnormality) SNOMEDCT_2005_07_31:128784007 spinal chordoma A chordoma that derives_from the spine. Chordoma of Spine DOID:4153 NCI2009_04D:C5156 disease_ontology A chordoma that derives_from the spine. url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html Chordoma of Spine NCI2004_11_17:C5156 dentinogenesis imperfecta DOID:4154 ICD10CM:K00.5 MSH:D003811 NCI:C84667 OMIM mapping confirmed by DO. [SN]. OMIM:125490 OMIM:125500 SNOMEDCT_US_2015_03_01:196286005 SNOMEDCT_US_2015_03_01:367461002 SNOMEDCT_US_2015_03_01:45742009 UMLS_CUI:C0011436 disease_ontology primary syphilis A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. DOID:4156 ICD9CM:091 SNOMEDCT_US_2015_03_01:186846005 SNOMEDCT_US_2015_03_01:57334003 Symptomatic early syphilis (disorder) UMLS_CUI:C0153139 disease_ontology early symptomatic syphilis early symptomatic syphilis (disorder) early syphilis, symptomatic SNOMEDCT_2005_07_31:186846005 early symptomatic syphilis (disorder) SNOMEDCT_2005_07_31:57334003 Symptomatic early syphilis (disorder) ICD9CM_2006:091 early syphilis, symptomatic A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis secondary syphilis A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. DOID:12122 DOID:4157 ICD9CM:091.9 MSH:C536773 SNOMEDCT_US_2015_03_01:154382002 SNOMEDCT_US_2015_03_01:186865002 SNOMEDCT_US_2015_03_01:240557004 UMLS_CUI:C0149985 disease_ontology secondary syphilis of viscera or bone A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. CA - skin cancer DOID:4159 MSH:D012878 NCI:C2920 SNOMEDCT_US_2015_03_01:188143008 SNOMEDCT_US_2015_03_01:190107001 SNOMEDCT_US_2015_03_01:363511009 SNOMEDCT_US_2015_03_01:372130007 SNOMEDCT_US_2015_03_01:94047004 UMLS_CUI:C0007114 cancer of skin disease_ontology malignant neoplasm of skin melanoma and Non-melanoma skin cancer NCI2004_11_17:C2920 melanoma and Non-melanoma skin cancer CA - skin cancer SNOMEDCT_2005_07_31:363511009 MTH:NOCODE malignant neoplasm of skin An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002414/ differentiating neuroblastoma DOID:4160 NCI:C42048 UMLS_CUI:C1511934 disease_ontology relapsed neuroblastoma DOID:4161 disease_ontology true ganglioneuroblastoma DOID:4163 Ganglioneuroblastoma (morphologic abnormality) MSH:D018305 NCI:C3790 SNOMEDCT_US_2015_03_01:69515008 UMLS_CUI:C0206718 disease_ontology Ganglioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:69515008 cerebral neuroblastoma DOID:4164 NCI:C4826 SNOMEDCT_US_2015_03_01:281560004 UMLS_CUI:C0559458 disease_ontology neuroblastoma of Cerebrum neuroblastoma of brain (disorder) neuroblastoma of the cerebral hemisphere NCI2004_11_17:C4826 neuroblastoma of Cerebrum SNOMEDCT_2005_07_31:281560004 neuroblastoma of brain (disorder) regional neuroblastoma DOID:4165 disease_ontology true syphilis A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. DOID:11095 DOID:4166 ICD10CM:A51.0 MSH:D002601 SNOMEDCT_US_2015_03_01:266127002 SNOMEDCT_US_2015_03_01:58433006 UMLS_CUI:C0007939 disease_ontology syphilitic chancre A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. url:http://emedicine.medscape.com/article/229461-overview#a0101 url:http://en.wikipedia.org/wiki/Syphilis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis hypersensitivity reaction type II disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. DOID:417 ICD9CM:720 UMLS_CUI:C0003089 Xref MGI. autoimmune disease disease_ontology An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. ls:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_disease localized resectable neuroblastoma DOID:4170 disease_ontology true localized unresectable neuroblastoma DOID:4172 disease_ontology true disseminated neuroblastoma DOID:4173 disease_ontology metastatic neuroblastoma true NCI2004_11_17:C6641 metastatic neuroblastoma Rh isoimmunization DOID:4175 MSH:D012203 NCI:C113150 Rh incompatibility affecting management of mother SNOMEDCT_US_2015_03_01:156182009 SNOMEDCT_US_2015_03_01:199580004 SNOMEDCT_US_2015_03_01:199581000 SNOMEDCT_US_2015_03_01:199584008 SNOMEDCT_US_2015_03_01:44795003 UMLS_CUI:C0035404 disease_ontology MTHICD9_2006:656.1 Rh incompatibility affecting management of mother blood group incompatibility CSP:0440-3703 DOID:4176 MSH:D001787 UMLS_CUI:C0005806 disease_ontology systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. DOID:418 EFO:0000717 ICD10CM:M34.0 ICD10CM:M34.9 ICD9CM:710.1 MSH:D012595 NCI:C72070 PSS (progressive systemic sclerosis) SNOMEDCT_US_2015_03_01:128457007 SNOMEDCT_US_2015_03_01:156451000 SNOMEDCT_US_2015_03_01:201440007 SNOMEDCT_US_2015_03_01:268049000 SNOMEDCT_US_2015_03_01:89155008 Scleroderma Scleroderma (& [systemic sclerosis]) Scleroderma syndrome UMLS_CUI:C0036421 disease_ontology progressive systemic sclerosis systemic sclerosis SNOMEDCT_2005_07_31:201440007 Scleroderma SNOMEDCT_2005_07_31:268049000 Scleroderma (& [systemic sclerosis]) CSP2005:4008-0097 PSS (progressive systemic sclerosis) A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. sn:IEDB SNOMEDCT_2005_07_31:89155008 Scleroderma syndrome MTHICD9_2006:710.1 progressive systemic sclerosis SNOMEDCT_2005_07_31:156451000 Scleroderma (& [systemic sclerosis]) SNOMEDCT_2005_07_31:128457007 Scleroderma syndrome ICD9CM_2006:710.1 systemic sclerosis pseudopseudohypoparathyroidism DOID:4183 MSH:D011556 Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous] OMIM mapping confirmed by DO. [SN]. OMIM:612463 Pseudopseudohypoparathyroidism (disorder) SNOMEDCT_US_2015_03_01:190867002 SNOMEDCT_US_2015_03_01:237659007 SNOMEDCT_US_2015_03_01:8084001 UMLS_CUI:C0033835 disease_ontology Pseudopseudohypoparathyroidism (disorder) SNOMEDCT_2005_07_31:237659007 Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous] SNOMEDCT_2005_07_31:8084001 pseudohypoparathyroidism DOID:4184 ICD10CM:E20.1 MSH:D011547 NCI:C99027 OMIM mapping confirmed by DO. [SN]. OMIM:603233 OMIM:612462 SNOMEDCT_US_2015_03_01:154697005 SNOMEDCT_US_2015_03_01:190867002 SNOMEDCT_US_2015_03_01:267479004 SNOMEDCT_US_2015_03_01:58976002 UMLS_CUI:C0033806 disease_ontology articulation disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. Articulation impairment DOID:4186 ICD10CM:F80.0 MSH:D001184 NCI:C92564 Phonological disorder SNOMEDCT_US_2015_03_01:229719002 SNOMEDCT_US_2015_03_01:386701004 SNOMEDCT_US_2015_03_01:8187005 UMLS_CUI:C0003910 disease_ontology Articulation impairment SNOMEDCT_2005_07_31:8187005 MTHICD9_2006:315.39 Phonological disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. url:http://www.psllcnj.com/articulation_disorders.htm echolalia A speech disorder that involves the automatic repetition of vocalizations made by another person. DOID:4188 MSH:D004454 NCI:C97166 SNOMEDCT_US_2015_03_01:64712007 UMLS_CUI:C0013528 disease_ontology A speech disorder that involves the automatic repetition of vocalizations made by another person. url:http://en.wikipedia.org/wiki/Echolalia mutism A speech disorder that involves a complete inability to speak. DOID:4189 MSH:D009155 SNOMEDCT_US_2015_03_01:267771000 SNOMEDCT_US_2015_03_01:88052002 UMLS_CUI:C0026884 disease_ontology A speech disorder that involves a complete inability to speak. url:http://en.wikipedia.org/wiki/Mutism url:http://en.wikipedia.org/wiki/Speech_disorder scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. DOID:419 MSH:D012594 NCI:C26746 SNOMEDCT_US_2015_03_01:128457007 SNOMEDCT_US_2015_03_01:156451000 SNOMEDCT_US_2015_03_01:156454008 SNOMEDCT_US_2015_03_01:201440007 SNOMEDCT_US_2015_03_01:201441006 SNOMEDCT_US_2015_03_01:267874003 SNOMEDCT_US_2015_03_01:268049000 SNOMEDCT_US_2015_03_01:287005009 SNOMEDCT_US_2015_03_01:89155008 UMLS_CUI:C0011644 dermatosclerosis disease_ontology A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp CSP2005:2716-6998 dermatosclerosis intracranial thrombosis DOID:12751 DOID:4193 ICD9CM:434.0 MSH:D020767 SNOMEDCT_US_2015_03_01:155401002 UMLS_CUI:C0079102 UMLS_CUI:C0752143 cerebral thrombosis disease_ontology glucose metabolism disease DOID:4194 MSH:D044882 NCI:C53655 SNOMEDCT_US_2015_03_01:126877002 UMLS_CUI:C1257958 disease_ontology disorder of glucose metabolism (disorder) SNOMEDCT_2005_07_31:126877002 disorder of glucose metabolism (disorder) hyperglycemia DOID:4195 ICD10CM:R73.9 MSH:D006943 NCI:C26797 SNOMEDCT_US_2015_03_01:144187006 SNOMEDCT_US_2015_03_01:154719004 SNOMEDCT_US_2015_03_01:207289007 SNOMEDCT_US_2015_03_01:207643008 SNOMEDCT_US_2015_03_01:237598005 SNOMEDCT_US_2015_03_01:270004003 SNOMEDCT_US_2015_03_01:315299009 SNOMEDCT_US_2015_03_01:390730002 SNOMEDCT_US_2015_03_01:80394007 UMLS_CUI:C0020456 disease_ontology femoral neuropathy DOID:4196 Femoral nerve lesions Femoral neuropathy (disorder) ICD10CM:G57.2 ICD10CM:G57.20 MSH:D020428 NCI:C27595 SNOMEDCT_US_2015_03_01:193146000 SNOMEDCT_US_2015_03_01:25690000 UMLS_CUI:C0751931 disease_ontology Femoral neuropathy (disorder) SNOMEDCT_2005_07_31:25690000 Femoral nerve lesions SNOMEDCT_2005_07_31:193146000 hypertrichosis DOID:420 ICD10CM:L68 ICD10CM:L68.3 ICD10CM:L68.9 MSH:D006983 NCI:C79597 SNOMEDCT_US_2015_03_01:156409007 SNOMEDCT_US_2015_03_01:201164001 SNOMEDCT_US_2015_03_01:201165000 SNOMEDCT_US_2015_03_01:271607001 SNOMEDCT_US_2015_03_01:29966009 SNOMEDCT_US_2015_03_01:40090008 UMLS_CUI:C0020555 disease_ontology hypertrichosis (disorder) hypertrichosis NOS (disorder) SNOMEDCT_2005_07_31:201165000 hypertrichosis NOS (disorder) SNOMEDCT_2005_07_31:29966009 hypertrichosis (disorder) commensal Bifidobacteriales infectious disease DOID:4200 disease_ontology true peroneal neuropathy DOID:4201 MSH:D020427 NCI:C27596 Peroneal Neuropathy UMLS_CUI:C0747533 disease_ontology NCI2004_11_17:C27596 Peroneal Neuropathy brain stem glioma Brainstem Neuroglial tumor DOID:4202 NCI:C8501 SNOMEDCT_US_2015_03_01:444545003 UMLS_CUI:C0677865 disease_ontology Brainstem Neuroglial tumor NCI2004_11_17:C8501 brain stem cancer DOID:13974 DOID:4203 DOID:4204 DOID:4208 ICD10CM:C71.7 ICD9CM:191.7 MSH:D020295 NCI:C3570 NCI:C4869 NCI:C4975 NCI:C5967 SNOMEDCT_US_2015_03_01:126961004 SNOMEDCT_US_2015_03_01:154549004 SNOMEDCT_US_2015_03_01:188299003 SNOMEDCT_US_2015_03_01:363473003 SNOMEDCT_US_2015_03_01:93726004 UMLS_CUI:C0153641 UMLS_CUI:C0677866 UMLS_CUI:C0751886 UMLS_CUI:C1332192 disease_ontology malignant neoplasm of brain stem malignant neoplasm of brainstem malignant neoplasm of brainstem (disorder) malignant neoplasm of brainstem NOS (disorder) malignant tumor of Brainstem neoplasm of adult brain stem neoplasm of brain stem (disorder) primary brain Stem tumor primary brain stem neoplasm tumor of adult Brainstem tumor of the Brainstem SNOMEDCT_2005_07_31:154549004 malignant neoplasm of brainstem NCI2004_11_17:C3570 malignant tumor of Brainstem SNOMEDCT_2005_07_31:188299003 malignant neoplasm of brainstem NOS (disorder) SNOMEDCT_2005_07_31:126961004 neoplasm of brain stem (disorder) SNOMEDCT_2005_07_31:363473003 malignant neoplasm of brainstem (disorder) NCI2004_11_17:C5967 tumor of adult Brainstem NCI2004_11_17:C4869 tumor of the Brainstem NCI2004_11_17:C4975 primary brain Stem tumor cerebellum cancer DOID:12786 DOID:4205 ICD10CM:C71.6 ICD9CM:191.6 MSH:D002528 NCI:C2935 NCI:C3569 SNOMEDCT_US_2015_03_01:126960003 SNOMEDCT_US_2015_03_01:154548007 SNOMEDCT_US_2015_03_01:363472008 SNOMEDCT_US_2015_03_01:449420002 UMLS_CUI:C0007762 UMLS_CUI:C0153640 cerebellar cancer disease_ontology malignant tumor of Cerebellum NCI2004_11_17:C3569 malignant tumor of Cerebellum childhood brain stem neoplasm DOID:4206 NCI:C5969 UMLS_CUI:C1332951 disease_ontology pediatric tumor of Brainstem NCI2004_11_17:C5969 pediatric tumor of Brainstem childhood infratentorial neoplasm DOID:4207 NCI:C5802 UMLS_CUI:C1332973 disease_ontology pediatric Infratentorial tumor NCI2004_11_17:C5802 pediatric Infratentorial tumor brainstem intraparenchymal clear cell meningioma DOID:4209 Intraparenchymal Clear cell meningioma of the Brainstem NCI:C5295 UMLS_CUI:C1332612 disease_ontology Intraparenchymal Clear cell meningioma of the Brainstem NCI2004_11_17:C5295 hair disease An integumentary system disease that is located_in hair. DOID:421 MSH:D006201 NCI:C34656 SNOMEDCT_US_2015_03_01:156407009 SNOMEDCT_US_2015_03_01:267862002 SNOMEDCT_US_2015_03_01:279425004 UMLS_CUI:C0018500 disease_ontology An integumentary system disease that is located_in hair. url:http://en.wikipedia.org/wiki/Hair_disease clear cell meningioma Clear cell meningioma Clear cell meningioma (morphologic abnormality) DOID:4210 MSH:D008579 NCI:C4722 SNOMEDCT_US_2015_03_01:134213009 SNOMEDCT_US_2015_03_01:57606003 UMLS_CUI:C0431121 disease_ontology Clear cell meningioma SNOMEDCT_2005_07_31:134213009 Clear cell meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:57606003 posterior cranial fossa meningioma DOID:4211 NCI:C6775 UMLS_CUI:C1335448 disease_ontology meningioma of the Posterior Cranial Fossa NCI2004_11_17:C6775 meningioma of the Posterior Cranial Fossa malignant ovarian Brenner tumor Brenner tumor, malignant (morphologic abnormality) DOID:4217 MSH:D001948 NCI:C4270 SNOMEDCT_US_2015_03_01:42194009 UMLS_CUI:C0334495 disease_ontology malignant Ovarian Brenner tumor NCI2004_11_17:C4270 malignant Ovarian Brenner tumor Brenner tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:42194009 congenital structural myopathy DOID:422 MSH:D020914 NCI:C84648 UMLS_CUI:C0752282 disease_ontology pyoderma DOID:4223 ICD10CM:L08.0 ICD9CM:686.0 ICD9CM:686.00 MSH:D011711 Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. SNOMEDCT_US_2015_03_01:156323008 SNOMEDCT_US_2015_03_01:200719000 SNOMEDCT_US_2015_03_01:267838007 SNOMEDCT_US_2015_03_01:70759006 UMLS_CUI:C0034212 disease_ontology Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. url:http://en.wikipedia.org/wiki/Pyoderma url:http://en.wikipedia.org/wiki/Pyogenic adult soft tissue sarcoma A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. DOID:4224 adult sarcoma of the soft tissue disease_ontology true A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. url:http://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma NCI2004_11_17:C7707 adult sarcoma of the soft tissue endometrial stromal sarcoma DOID:4226 ESS MSH:D018203 NCI:C8973 SNOMEDCT_US_2015_03_01:699356008 SNOMEDCT_US_2015_03_01:70555003 UMLS_CUI:C0206630 Undifferentiated endometrial sarcoma disease_ontology endometrial stromal sarcoma, high grade NCI2004_11_17:C8972 Undifferentiated endometrial sarcoma SNOMEDCT_2005_07_31:70555003 endometrial stromal sarcoma, high grade ESS NCI2004_11_17:C8973 uterine corpus endometrial stromal sarcoma DOID:1374 DOID:4227 NCI:C40217 NCI:C40219 UMLS_CUI:C1519848 UMLS_CUI:C1519849 disease_ontology uterine corpus endometrial stromal tumor stromal sarcoma DOID:4228 Stromal sarcoma Stromal sarcoma (morphologic abnormality) disease_ontology true NCI2004_11_17:C6926 Stromal sarcoma SNOMEDCT_2005_07_31:128753005 Stromal sarcoma (morphologic abnormality) myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness. DOID:423 ICD10CM:G72.9 ICD10CM:M60-M63 ICD10CM:M62.9 ICD9CM:359.9 MSH:D009135 NCI:C101216 SNOMEDCT_US_2015_03_01:129565002 SNOMEDCT_US_2015_03_01:155094005 SNOMEDCT_US_2015_03_01:155099000 SNOMEDCT_US_2015_03_01:203833006 SNOMEDCT_US_2015_03_01:203845002 SNOMEDCT_US_2015_03_01:267711006 SNOMEDCT_US_2015_03_01:267714003 SNOMEDCT_US_2015_03_01:268103006 SNOMEDCT_US_2015_03_01:52794005 SNOMEDCT_US_2015_03_01:75047002 UMLS_CUI:C0026848 disease_ontology A muscular disease in which the muscle fibers do not function resulting in muscular weakness. url:http://en.wikipedia.org/wiki/Myopathy smooth muscle cancer DOID:4230 NCI:C6511 UMLS_CUI:C1334620 disease_ontology malignant tumor of Smooth Muscle NCI2004_11_17:C6511 malignant tumor of Smooth Muscle histiocytoma DOID:4231 MSH:D051642 NCI:C35765 SNOMEDCT_US_2015_03_01:128741006 SNOMEDCT_US_2015_03_01:154614002 SNOMEDCT_US_2015_03_01:189773000 SNOMEDCT_US_2015_03_01:302843004 SNOMEDCT_US_2015_03_01:72079004 UMLS_CUI:C1509147 disease_ontology extraosseous Ewing's sarcoma DOID:4232 NCI:C27293 UMLS_CUI:C1333514 disease_ontology extraosseous Ewing sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor clear cell sarcoma A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. Clear cell sarcoma (morphologic abnormality) Clear cell sarcoma of soft Parts DOID:4233 DOID:4881 MSH:D018227 NCI:C27370 NCI:C3745 SNOMEDCT_US_2015_03_01:12622007 SNOMEDCT_US_2015_03_01:271944004 SNOMEDCT_US_2015_03_01:402561003 UMLS_CUI:C0206651 UMLS_CUI:C1332198 adult soft part clear cell sarcoma disease_ontology malignant melanoma of soft parts malignant melanoma of soft tissues (disorder) melanoma, malignant, of soft parts Clear cell sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:271944004 A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma SNOMEDCT_2005_07_31:402561003 malignant melanoma of soft tissues (disorder) Clear cell sarcoma of soft Parts NCI2004_11_17:C3745 SNOMEDCT_2005_07_31:12622007 melanoma, malignant, of soft parts spindle cell sarcoma A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. DOID:4235 MSH:D012509 NCI:C27005 SNOMEDCT_US_2015_03_01:9801004 UMLS_CUI:C0205945 disease_ontology A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. url:http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma carcinosarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:1971 DOID:2610 DOID:4234 DOID:4236 MMMT MSH:D002296 MSH:D018199 MSH:D018200 Mesodermal mixed tumor (morphologic abnormality) NCI:C34448 NCI:C3730 NCI:C8975 SNOMEDCT_US_2015_03_01:112684005 SNOMEDCT_US_2015_03_01:189808004 SNOMEDCT_US_2015_03_01:63264007 SNOMEDCT_US_2015_03_01:84427001 UMLS_CUI:C0007140 UMLS_CUI:C0206627 UMLS_CUI:C1334603 disease_ontology malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor mullerian mixed tumor (morphologic abnormality) MMMT NCI2004_11_17:C8975 SNOMEDCT_2005_07_31:84427001 mullerian mixed tumor (morphologic abnormality) Mesodermal mixed tumor (morphologic abnormality) SNOMEDCT_2005_07_31:112684005 NCI2004_11_17:C3730 mixed Mesodermal (mullerian) tumor A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor url:http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English url:http://www.cancer.gov/dictionary/?CdrID=44003 malignant soft tissue neoplasm of central nervous system DOID:4238 disease_ontology malignant soft tissue tumor of CNS true NCI2004_11_17:C6758 malignant soft tissue tumor of CNS alveolar soft part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. Alveolar Soft Part sarcoma DOID:4239 DOID:5315 DOID:5318 MSH:D018234 NCI:C3750 NCI:C7943 NCI:C8092 OMIM mapping confirmed by DO. [SN]. OMIM:606243 SNOMEDCT_US_2015_03_01:302839003 SNOMEDCT_US_2015_03_01:404056007 SNOMEDCT_US_2015_03_01:88195001 UMLS_CUI:C0206657 UMLS_CUI:C0279544 UMLS_CUI:C0279985 adult alveolar soft part sarcoma childhood alveolar soft part sarcoma disease_ontology pediatric Alveolar soft Part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. url:http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma NCI2004_11_17:C8092 pediatric Alveolar soft Part sarcoma Alveolar Soft Part sarcoma NCI2004_11_17:C3750 pulmonary immaturity DOID:424 ICD10CM:P28.0 ICD9CM:770.4 SNOMEDCT_US_2015_03_01:123275009 SNOMEDCT_US_2015_03_01:42908004 UMLS_CUI:C0270163 disease_ontology primary atelectasis of newborn primary atelectasis, in perinatal period (disorder) ICD9CM_2006:770.4 primary atelectasis of newborn SNOMEDCT_2005_07_31:42908004 primary atelectasis, in perinatal period (disorder) malignant miscellaneous mesenchymal tumor DOID:4240 disease_ontology true kidney sarcoma A kidney cancer that is located_in the kidney's connective tissue. DOID:4242 NCI:C4525 SNOMEDCT_US_2015_03_01:254918001 UMLS_CUI:C0346251 disease_ontology renal sarcoma sarcoma of kidney (disorder) SNOMEDCT_2005_07_31:254918001 sarcoma of kidney (disorder) A kidney cancer that is located_in the kidney's connective tissue. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp NCI2004_11_17:C4525 renal sarcoma extraskeletal cartilaginous and osseous tumor DOID:4245 disease_ontology true malignant mediastinal mesenchymal tumor DOID:4246 disease_ontology malignant soft tissue tumor of mediastinum true NCI2004_11_17:C6642 malignant soft tissue tumor of mediastinum coronary restenosis DOID:4247 MSH:D023903 UMLS_CUI:C0948480 disease_ontology coronary stenosis Coronary artery stenosis (disorder) DOID:4248 MSH:D023921 NCI:C80427 SNOMEDCT_US_2015_03_01:233970002 UMLS_CUI:C0242231 disease_ontology Coronary artery stenosis (disorder) SNOMEDCT_2005_07_31:233970002 Gerstmann-Straussler-Scheinker syndrome A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. DOID:4249 Gerstmann-Straussler-Scheinker disease ICD10CM:A81.82 ICD9CM:046.71 MSH:D016098 NCI:C84727 OMIM mapping confirmed by DO. [SN]. OMIM:137440 PRION DEMENTIA SNOMEDCT_US_2015_03_01:67155006 UMLS_CUI:C0017495 disease_ontology A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease url:http://www.cdc.gov/ncidod/dvrd/prions/ certain conditions originating in the perinatal period DOID:425 disease_ontology true conjunctivochalasis Conjunctivochalasis (disorder) DOID:4250 ICD10CM:H11.82 ICD9CM:372.81 SNOMEDCT_US_2015_03_01:408663001 UMLS_CUI:C0878693 disease_ontology Conjunctivochalasis (disorder) SNOMEDCT_2005_07_31:408663001 conjunctival disease DOID:4251 ICD10CM:H10-H11 ICD10CM:H11.9 ICD9CM:372 ICD9CM:372.9 MSH:D003229 NCI:C27605 SNOMEDCT_US_2015_03_01:155161009 SNOMEDCT_US_2015_03_01:155169006 SNOMEDCT_US_2015_03_01:193906005 SNOMEDCT_US_2015_03_01:194583004 SNOMEDCT_US_2015_03_01:267735001 SNOMEDCT_US_2015_03_01:59698003 UMLS_CUI:C0009759 disease_ontology Alexander disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. Alexander's disease Alexander's disease (disorder) DOID:4252 MSH:D038261 NCI:C84545 OMIM mapping confirmed by DO. [SN]. OMIM:203450 SNOMEDCT_US_2015_03_01:81854007 UMLS_CUI:C0270726 disease_ontology Alexander's disease CSP2005:1849-5479 A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. url:http://en.wikipedia.org/wiki/Alexander_disease url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm url:http://www.omim.org/entry/203450 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract Alexander's disease (disorder) SNOMEDCT_2005_07_31:81854007 melorheostosis An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. DOID:4253 MSH:D008557 NCI:C84887 OMIM mapping confirmed by DO. [SN]. OMIM:155950 SNOMEDCT_US_2015_03_01:240173003 SNOMEDCT_US_2015_03_01:44697002 UMLS_CUI:C0025239 disease_ontology An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. url:http://en.wikipedia.org/wiki/Melorheostosis url:http://www.melorheostosis.com/ url:http://www.orthopaedia.com/display/Main/Melorheostosis osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass. DOID:4254 ICD10CM:Q78.2 MSH:D010026 NCI:C41236 SNOMEDCT_US_2015_03_01:49347007 UMLS_CUI:C0029464 disease_ontology A bone remodeling disease that results_in abnormal elevated bone density or mass. url:http://en.wikipedia.org/wiki/Osteosclerosis url:http://medical-dictionary.thefreedictionary.com/osteosclerosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteosclerosis.aspx rheumatism DOID:4256 disease_ontology true Caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. DOID:4257 ICD10CM:M89.8 MSH:D006958 NCI:C84645 OMIM mapping confirmed by DO. [SN]. OMIM:114000 SNOMEDCT_US_2015_03_01:123258003 SNOMEDCT_US_2015_03_01:24752008 UMLS_CUI:C0020497 cortical congenital hyperostosis disease_ontology infantile cortical hyperostosis A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. url:http://emedicine.medscape.com/article/406697-overview url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/c/caffeys_disease.aspx Weissenbacher-Zweymüller syndrome An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. DOID:4258 ICD10CM:Q87.0 MSH:D010855 NCI:C85010 OMIM:261800 Piere-Robin syndrome Pierre Robin Malformation SNOMEDCT_US_2015_03_01:156908005 SNOMEDCT_US_2015_03_01:268313009 SNOMEDCT_US_2015_03_01:4602007 UMLS_CUI:C0031900 disease_ontology Piere-Robin syndrome SNOMEDCT_2005_07_31:268313009 An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. url:http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome url:http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351 url:http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1 gait apraxia DOID:4260 Gait apraxia (finding) MSH:D020235 SNOMEDCT_US_2015_03_01:30767006 UMLS_CUI:C1510417 disease_ontology Gait apraxia (finding) SNOMEDCT_2005_07_31:30767006 drug-induced akathisia DOID:4263 Drug-induced akathisia (disorder) disease_ontology true Drug-induced akathisia (disorder) SNOMEDCT_2005_07_31:230333002 angiomyoma Angiomyoma (morphologic abnormality) DOID:4265 MSH:D018229 NCI:C3747 SNOMEDCT_US_2015_03_01:86959002 UMLS_CUI:C0206653 disease_ontology vascular leiomyoma NCI2004_11_17:C3747 vascular leiomyoma Angiomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:86959002 intravascular angioleiomyoma DOID:4266 NCI:C5355 UMLS_CUI:C1334267 disease_ontology akinetic mutism A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. Coma vigilans (finding) DOID:4267 MSH:D000405 SNOMEDCT_US_2015_03_01:5124002 SNOMEDCT_US_2015_03_01:53333005 UMLS_CUI:C0001889 disease_ontology Coma vigilans (finding) SNOMEDCT_2005_07_31:5124002 A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. url:http://en.wikipedia.org/wiki/Akinetic_mutism url:http://www.ncbi.nlm.nih.gov/pubmed/14642361 encephalitozoonosis A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. DOID:4270 Infection by Encephalitozoon (disorder) MSH:D016890 SNOMEDCT_US_2015_03_01:12825006 UMLS_CUI:C0085412 disease_ontology A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. url:http://jvdi.org/cgi/reprint/5/4/649.pdf url:http://www.petplace.com/dogs/encephalitozoonosis/page1.aspx Infection by Encephalitozoon (disorder) SNOMEDCT_2005_07_31:12825006 microsporidiosis An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. DOID:4271 ICD10CM:B60.8 Infection by Microspora (disorder) Infection by Microsporea (disorder) Infection by Microsporida (disorder) MSH:D016881 NCI:C84891 SNOMEDCT_US_2015_03_01:61842000 SNOMEDCT_US_2015_03_01:65883009 SNOMEDCT_US_2015_03_01:699676006 SNOMEDCT_US_2015_03_01:78142009 UMLS_CUI:C0085407 disease_ontology Infection by Microspora (disorder) SNOMEDCT_2005_07_31:65883009 Infection by Microsporea (disorder) SNOMEDCT_2005_07_31:78142009 Infection by Microsporida (disorder) SNOMEDCT_2005_07_31:61842000 An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. url:http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm bovine hemorrhagic syndrome A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. DOID:4273 disease_ontology true A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. url:http://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML Pestivirus infectious disease A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. DOID:4274 disease_ontology true A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. url:http://en.wikipedia.org/wiki/Pestivirus penis basal cell carcinoma DOID:4277 NCI:C39961 UMLS_CUI:C1518949 basal cell carcinoma of the penis disease_ontology scrotum basal cell carcinoma Basal cell carcinoma of scrotum DOID:4278 NCI:C6386 UMLS_CUI:C1335934 basal cell carcinoma of the scrotum disease_ontology Basal cell carcinoma of scrotum NCI2004_11_17:C6386 infundibulocystic basal cell carcinoma DOID:4279 OMIM:604451 Xref MGI. disease_ontology skin infundibulocystic basal cell carcinoma nodular basal cell carcinoma Basal cell carcinoma, nodular (morphologic abnormality) Circumscribed solid basal cell carcinoma DOID:4280 DOID:4296 NCI:C62282 SNOMEDCT_US_2015_03_01:128636006 SNOMEDCT_US_2015_03_01:403910009 UMLS_CUI:C1304300 disease_ontology skin nodulo-ulcerative basal cell carcinoma skin solid (nodular) Basal cell carcinoma Circumscribed solid basal cell carcinoma SNOMEDCT_2005_07_31:403910009 Basal cell carcinoma, nodular (morphologic abnormality) SNOMEDCT_2005_07_31:128636006 NCI2004_11_17:C5616 skin solid (nodular) Basal cell carcinoma metatypical basal cell carcinoma Basosquamous carcinoma of skin (disorder) DOID:4281 disease_ontology skin Metatypical carcinoma skin metatypical basal cell carcinoma NCI2004_11_17:C2922 skin Metatypical carcinoma Basosquamous carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254702000 pigmented basal cell carcinoma DOID:4282 disease_ontology skin pigmented basal cell carcinoma anal margin basal cell carcinoma Basal cell carcinoma of Perianal skin DOID:4283 ICD10CM:C44.510 NCI:C7473 UMLS_CUI:C1332269 basal cell carcinoma of anal margin disease_ontology Basal cell carcinoma of Perianal skin NCI2004_11_17:C7473 anal margin carcinoma An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). DOID:4284 NCI:C7472 Perianal skin carcinoma SNOMEDCT_US_2015_03_01:255084004 UMLS_CUI:C0349534 carcinoma of anal margin disease_ontology An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp NCI2004_11_17:C7472 Perianal skin carcinoma complications of pregnancy, childbirth and the puerperium DOID:4285 disease_ontology true sebaceous basal cell carcinoma DOID:4286 disease_ontology skin basosebaceous basal cell carcinoma external ear basal cell carcinoma Basal cell carcinoma of the External ear DOID:4287 NCI:C6082 UMLS_CUI:C1333491 basal cell carcinoma of external ear disease_ontology Basal cell carcinoma of the External ear NCI2004_11_17:C6082 external ear carcinoma An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4288 NCI:C6081 UMLS_CUI:C1333492 carcinoma of external ear carcinoma of the External ear disease_ontology An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI2004_11_17:C6081 carcinoma of the External ear micronodular basal cell carcinoma DOID:4289 disease_ontology skin micronodular basal cell carcinoma gynatresia DOID:429 MSH:D006175 NCI:C84743 UMLS_CUI:C0018414 disease_ontology adamantinoid basal cell epithelioma Basal cell carcinoma - adamantinoid (disorder) DOID:4290 Melanotic adamantinoma of skin (disorder) NCI:C7585 SNOMEDCT_US_2015_03_01:254728002 SNOMEDCT_US_2015_03_01:402524007 UMLS_CUI:C1304295 disease_ontology skin adamantinoid basal cell epithelioma Basal cell carcinoma - adamantinoid (disorder) SNOMEDCT_2005_07_31:402524007 Melanotic adamantinoma of skin (disorder) SNOMEDCT_2005_07_31:254728002 fibroepithelial basal cell carcinoma DOID:4291 Fibroepithelioma of Pinkus (disorder) Fibroepithelioma of Pinkus type NCI:C4109 Pinkus tumor SNOMEDCT_US_2015_03_01:254703005 SNOMEDCT_US_2015_03_01:43369006 UMLS_CUI:C0346013 disease_ontology Fibroepithelioma of Pinkus (disorder) SNOMEDCT_2005_07_31:254703005 Fibroepithelioma of Pinkus type SNOMEDCT_2005_07_31:43369006 NCI2004_11_17:C4109 Pinkus tumor morpheaform basal cell carcinoma Basal cell carcinoma, morphea Cicatricial basal-cell carcinoma DOID:4292 Morphea-type (Sclerosing) Basal cell carcinoma NCI:C27182 SNOMEDCT_US_2015_03_01:134152008 SNOMEDCT_US_2015_03_01:302821007 SNOMEDCT_US_2015_03_01:403913006 SNOMEDCT_US_2015_03_01:56665009 UMLS_CUI:C0555191 disease_ontology Morphea-type (Sclerosing) Basal cell carcinoma NCI2004_11_17:C27182 Basal cell carcinoma, morphea SNOMEDCT_2005_07_31:56665009 clear cell basal cell carcinoma DOID:4293 NCI:C27536 UMLS_CUI:C1516599 disease_ontology skin clear cell basal cell carcinoma adenoid basal cell carcinoma DOID:4294 disease_ontology skin adenoid basal cell carcinoma follicular basal cell carcinoma DOID:4295 disease_ontology follicular (pilar) basal cell carcinoma scimitar syndrome DOID:4297 ICD10CM:Q26.2 ICD10CM:Q26.8 ICD9CM:747.41 MSH:D012587 NCI:C85056 NCI:C98585 OMIM:106700 SNOMEDCT_US_2015_03_01:111323005 SNOMEDCT_US_2015_03_01:204458000 SNOMEDCT_US_2015_03_01:39905002 UMLS_CUI:C0036400 disease_ontology pulmonary venolobar syndrome total anomalous pulmonary venous return respiratory system abnormality DOID:4298 disease_ontology true infiltrative basal cell carcinoma DOID:4299 disease_ontology skin infiltrating basal cell carcinoma superficial basal cell carcinoma DOID:4300 Multifocal superficial basal cell carcinoma (morphologic abnormality) NCI:C4108 SNOMEDCT_US_2015_03_01:61098004 Superficial multicentric basal-cell carcinoma UMLS_CUI:C0334256 disease_ontology multicentric basal cell carcinoma Multifocal superficial basal cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:61098004 vulva basal cell carcinoma Basal cell carcinoma of Vulva DOID:4301 NCI:C6381 UMLS_CUI:C1336977 basal cell carcinoma of the vulva disease_ontology Basal cell carcinoma of Vulva NCI2004_11_17:C6381 cystic basal cell carcinoma DOID:4302 disease_ontology skin cystic basal cell carcinoma sarcomatoid basal cell carcinoma DOID:4303 NCI:C38111 UMLS_CUI:C1519182 disease_ontology skin sarcomatoid basal cell carcinoma signet ring basal cell carcinoma DOID:4304 NCI:C38110 UMLS_CUI:C1519320 disease_ontology skin signet ring cell basal cell carcinoma bone giant cell tumor A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). DOID:4305 Giant cell neoplasm of bone Giant cell tumor of bone (morphologic abnormality) Giant cell tumor of bone NOS (morphologic abnormality) MSH:D018212 NCI:C3738 SNOMEDCT_US_2015_03_01:189891002 SNOMEDCT_US_2015_03_01:57500000 SNOMEDCT_US_2015_03_01:697970009 UMLS_CUI:C0206638 disease_ontology giant cell myeloma osteoclastoma Giant cell neoplasm of bone NCI2004_11_17:C3738 Giant cell tumor of bone (morphologic abnormality) SNOMEDCT_2005_07_31:57500000 A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone Giant cell tumor of bone NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189891002 radiculopathy DOID:4306 ICD10CM:M54.1 ICD10CM:M54.10 MSH:D011843 SNOMEDCT_US_2015_03_01:394640000 SNOMEDCT_US_2015_03_01:72274001 UMLS_CUI:C0700594 disease_ontology nerve root disorder nerve root disorder, NOS SNOMEDCT_2005_07_31:394640000 nerve root disorder SNOMEDCT_2005_07_31:72274001 nerve root disorder, NOS polyradiculopathy DOID:4307 MSH:D011128 NCI:C34934 Polyradiculopathy (disorder) SNOMEDCT_US_2015_03_01:75572007 UMLS_CUI:C0032586 disease_ontology Polyradiculopathy (disorder) SNOMEDCT_2005_07_31:75572007 polyradiculoneuropathy DOID:4308 MSH:D011129 Polyradiculoneuropathy (disorder) SNOMEDCT_US_2015_03_01:128078004 UMLS_CUI:C0032587 disease_ontology Polyradiculoneuropathy (disorder) SNOMEDCT_2005_07_31:128078004 myofascial pain syndrome DOID:431 MSH:D009209 UMLS_CUI:C0027073 disease_ontology smooth muscle tumor Smooth muscle tumor NOS (morphologic abnormality) DOID:4310 MSH:D018235 NCI:C3751 SNOMEDCT_US_2015_03_01:189799007 SNOMEDCT_US_2015_03_01:75109009 Smooth muscle tumour of uncertain malignant potential UMLS_CUI:C0206658 disease_ontology neoplasm of the Smooth Muscle NCI2004_11_17:C3751 neoplasm of the Smooth Muscle SNOMEDCT_2005_07_31:75109009 Smooth muscle tumour of uncertain malignant potential Smooth muscle tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189799007 epidermolysis bullosa acquisita DOID:4313 ICD10CM:L12.3 ICD10CM:L12.30 MSH:D016107 NCI:C84690 SNOMEDCT_US_2015_03_01:200911009 SNOMEDCT_US_2015_03_01:2772003 UMLS_CUI:C0079293 acquired epidermolysis bullosa acquired epidermolysis bullosa (disorder) disease_ontology SNOMEDCT_2005_07_31:200911009 acquired epidermolysis bullosa SNOMEDCT_2005_07_31:2772003 acquired epidermolysis bullosa (disorder) visna A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. DOID:4318 Ovine encephalomyelitis disease_ontology true A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf Ovine encephalomyelitis SNOMEDCT_2005_07_31:59350003 non-gestational choriocarcinoma DOID:4320 MSH:D031954 UMLS_CUI:C1135873 disease_ontology large cell acanthoma DOID:4321 NCI:C27518 UMLS_CUI:C1334362 disease_ontology pilar sheath acanthoma DOID:4322 MSH:D049309 NCI:C4468 Pilar Sheath acanthoma Pilar sheath acanthoma (disorder) SNOMEDCT_US_2015_03_01:254693008 UMLS_CUI:C0346005 disease_ontology NCI2004_11_17:C4468 Pilar Sheath acanthoma Pilar sheath acanthoma (disorder) SNOMEDCT_2005_07_31:254693008 epidermolytic acanthoma DOID:4323 NCI:C27516 UMLS_CUI:C1333414 disease_ontology acantholytic acanthoma Acantholytic acanthoma DOID:4324 NCI:C27517 SNOMEDCT_US_2015_03_01:397188008 UMLS_CUI:C1301270 disease_ontology Acantholytic acanthoma NCI2004_11_17:C27517 Ebola hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. DOID:4325 Ebola virus disease ICD10CM:A98.4 MSH:D019142 NCI:C36171 SNOMEDCT_US_2015_03_01:123323003 SNOMEDCT_US_2015_03_01:186746000 SNOMEDCT_US_2015_03_01:37109004 UMLS_CUI:C0282687 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm Ebola virus disease SNOMEDCT_2005_07_31:186746000 Filoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. DOID:4326 disease_ontology true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. url:http://en.wikipedia.org/wiki/Filoviridae Marburg hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. DOID:4327 ICD10CM:A98.3 MSH:D008379 Marburg disease Marburg virus disease NCI:C84883 SNOMEDCT_US_2015_03_01:123322008 SNOMEDCT_US_2015_03_01:77503002 UMLS_CUI:C0024788 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm MTHICD9_2006:078.89 Marburg disease Erdheim-Chester disease DOID:4329 MSH:D031249 NCI:C53972 SNOMEDCT_US_2015_03_01:699537002 SNOMEDCT_US_2015_03_01:703711007 UMLS_CUI:C0878675 disease_ontology Intraventricular hemorrhage from any perinatal cause DOID:433 disease_ontology true non-langerhans-cell histiocytosis DOID:4330 MSH:D015616 Non-Langerhans cell histiocytosis SNOMEDCT_US_2015_03_01:127069007 UMLS_CUI:C0019624 disease_ontology Non-Langerhans cell histiocytosis SNOMEDCT_2005_07_31:127069007 burning mouth syndrome DOID:4331 MSH:D002054 NCI:C62545 Orodynia SNOMEDCT_US_2015_03_01:111349000 SNOMEDCT_US_2015_03_01:399165002 Stomatopyrosis UMLS_CUI:C0006430 disease_ontology SNOMEDCT_2005_07_31:399165002 Stomatopyrosis Orodynia SNOMEDCT_2005_07_31:111349000 familial hypophosphatemia DOID:4332 Hypophosphatemia, familial disease_ontology familial hypophosphataemia true Hypophosphatemia, familial MTH:U000306 SNOMEDCT_2005_07_31:237901003 familial hypophosphataemia parovarian cyst Cyst, fimbrial DOID:4333 Embryonic fimbrial cyst (disorder) ICD10CM:Q50.4 ICD10CM:Q50.5 MSH:D010310 Parovarian cyst SNOMEDCT_US_2015_03_01:204831002 SNOMEDCT_US_2015_03_01:64233004 UMLS_CUI:C0030584 disease_ontology Embryonic fimbrial cyst (disorder) SNOMEDCT_2005_07_31:64233004 Parovarian cyst SNOMEDCT_2005_07_31:204831002 Cyst, fimbrial MTHICD9_2006:752.11 splenic manifestation of prolymphocytic leukemia DOID:4334 NCI:C7297 UMLS_CUI:C1336066 disease_ontology tinea favosa A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. DOID:0050109 DOID:4336 Favus Favus NOS ICD10CM:B35 MSH:D014007 NCI:C35072 SNOMEDCT_US_2015_03_01:85375000 Tinea favosa (disorder) UMLS_CUI:C0040254 disease_ontology favus Favus NCI2004_11_17:C35072 Favus NOS MTHICD9_2006:110.9 A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm SNOMEDCT_2005_07_31:85375000 Tinea favosa (disorder) tinea capitis A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. DOID:0050114 DOID:12319 DOID:4337 Dermatophytosis of Scalp and Beard Dermatophytosis of scalp Dermatophytosis of scalp and beard Dermatophytosis of scalp or beard (disorder) Dermatophytosis of scalp or beard NOS (disorder) ICD9CM:110.0 NCI:C34536 SNOMEDCT_US_2015_03_01:186985002 SNOMEDCT_US_2015_03_01:186987005 SNOMEDCT_US_2015_03_01:266148000 Scalp ringworm Tinea capitis (disorder) Trichophyton rubrum tinea capitis UMLS_CUI:C0011640 dermatophytosis of scalp or beard disease_ontology tinea capitis due to Trichophyton rubrum Dermatophytosis of scalp or beard NOS (disorder) SNOMEDCT_2005_07_31:186987005 SNOMEDCT_2005_07_31:154396008 Scalp ringworm A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm Dermatophytosis of scalp or beard (disorder) SNOMEDCT_2005_07_31:266148000 SNOMEDCT_2005_07_31:5441008 Tinea capitis (disorder) Dermatophytosis of scalp and beard ICD9CM_2006:110.0 Dermatophytosis of Scalp and Beard NCI2004_11_17:C34536 anterior mediastinum cancer DOID:434 disease_ontology true variegate porphyria DOID:4346 MSH:D046350 NCI:C85219 OMIM:176200 Protocoproporphyria Protoporphyrinogen oxidase deficiency SNOMEDCT_US_2015_03_01:276264004 SNOMEDCT_US_2015_03_01:58275005 UMLS_CUI:C0162532 Variegate porphyria (disorder) disease_ontology Protoporphyrinogen oxidase deficiency SNOMEDCT_2005_07_31:276264004 SNOMEDCT_2005_07_31:58275005 Variegate porphyria (disorder) MTHICD9_2006:277.1 Protocoproporphyria lymphocele DOID:4347 Lymph cyst (disorder) Lymphocele (disorder) Lymphocyst (morphologic abnormality) MSH:D008210 NCI:C78442 SNOMEDCT_US_2015_03_01:12167004 SNOMEDCT_US_2015_03_01:234109007 SNOMEDCT_US_2015_03_01:234110002 UMLS_CUI:C0024248 disease_ontology Lymphocele (disorder) SNOMEDCT_2005_07_31:234109007 Lymphocyst (morphologic abnormality) SNOMEDCT_2005_07_31:12167004 Lymph cyst (disorder) SNOMEDCT_2005_07_31:234110002 complications occurring mainly in the course of labor and delivery DOID:11084 DOID:11085 DOID:4349 Rupture of uterus before onset of labor, antepartum Rupture of uterus before onset of labor, with delivery disease_ontology true malignant neoplasm of thymus, heart and mediastinum DOID:435 disease_ontology true bovine anaplasmosis Anaplasmosis (disorder) DOID:4350 disease_ontology true Anaplasmosis (disorder) SNOMEDCT_2005_07_31:13906002 primary Anaplasmataceae infectious disease DOID:4351 disease_ontology true ciliary body cancer DOID:4352 DOID:6352 ICD10CM:C69.4 NCI:C4364 NCI:C4766 SNOMEDCT_US_2015_03_01:126998003 SNOMEDCT_US_2015_03_01:188263008 SNOMEDCT_US_2015_03_01:93756008 UMLS_CUI:C0339349 UMLS_CUI:C0496833 disease_ontology malignant neoplasm of ciliary body malignant tumor of ciliary body (disorder) malignant tumor of the Ciliary body neoplasm of ciliary body (disorder) tumor of the Ciliary body NCI2004_11_17:C4766 malignant tumor of the Ciliary body NCI2004_11_17:C4364 tumor of the Ciliary body SNOMEDCT_2005_07_31:126998003 neoplasm of ciliary body (disorder) SNOMEDCT_2005_07_31:188263008 malignant tumor of ciliary body (disorder) ciliary body disease Ciliary body disorder DOID:4353 NCI:C35775 SNOMEDCT_US_2015_03_01:155116005 SNOMEDCT_US_2015_03_01:193481009 SNOMEDCT_US_2015_03_01:267719008 SNOMEDCT_US_2015_03_01:68575007 UMLS_CUI:C0271100 disease_ontology disorder of ciliary body (disorder) SNOMEDCT_2005_07_31:68575007 disorder of ciliary body (disorder) Ciliary body disorder SNOMEDCT_2005_07_31:193481009 Ciliary body disorder SNOMEDCT_2005_07_31:267719008 Ciliary body disorder SNOMEDCT_2005_07_31:155116005 regressing malignant melanoma DOID:4356 disease_ontology malignant melanoma, regressing (morphologic abnormality) regressing malignant melanoma regressing melanoma true SNOMEDCT_2005_07_31:189750008 regressing malignant melanoma SNOMEDCT_2005_07_31:39896009 malignant melanoma, regressing (morphologic abnormality) NCI2004_11_17:C4228 regressing melanoma experimental melanoma DOID:4357 Experimental malignant melanoma disease_ontology true Experimental malignant melanoma NCI2004_11_17:C16835 metastatic melanoma DOID:4358 disease_ontology true amelanotic melanoma Amelanotic melanoma Amelanotic melanoma (morphologic abnormality) DOID:4359 MSH:D018328 NCI:C3802 SNOMEDCT_US_2015_03_01:70594002 UMLS_CUI:C0206735 disease_ontology Amelanotic melanoma NCI2004_11_17:C3802 Amelanotic melanoma (morphologic abnormality) SNOMEDCT_2005_07_31:70594002 posterior mediastinum cancer DOID:436 ICD10CM:C38.2 ICD9CM:164.3 SNOMEDCT_US_2015_03_01:187888005 SNOMEDCT_US_2015_03_01:448670003 UMLS_CUI:C0153502 disease_ontology epithelioid cell melanoma DOID:4360 NCI:C4236 SNOMEDCT_US_2015_03_01:37138001 UMLS_CUI:C0334443 disease_ontology epithelioid cell melanoma (morphologic abnormality) epithelioid melanoma NCI2004_11_17:C4236 epithelioid melanoma SNOMEDCT_2005_07_31:37138001 epithelioid cell melanoma (morphologic abnormality) cervical cancer A female reproductive organ cancer that is located_in the cervix. DOID:4361 DOID:4362 ICD10CM:C53 ICD10CM:C53.9 ICD9CM:180 ICD9CM:180.9 MSH:D002583 NCI:C2940 NCI:C9311 SNOMEDCT_US_2015_03_01:123841004 SNOMEDCT_US_2015_03_01:188174005 SNOMEDCT_US_2015_03_01:188186008 SNOMEDCT_US_2015_03_01:254885005 SNOMEDCT_US_2015_03_01:363354003 SNOMEDCT_US_2015_03_01:93752005 UMLS_CUI:C0007847 UMLS_CUI:C0007873 cervical neoplasm cervix cancer cervix uteri cancer disease_ontology neoplasm of uterine cervix (disorder) tumor of the Cervix Uteri uterine cervical neoplasm A female reproductive organ cancer that is located_in the cervix. url:http://cancergenome.nih.gov/cancersselected/cervicalcancer url:http://en.wikipedia.org/wiki/Cervical_cancer url:http://www.cancer.gov/dictionary?CdrID=444973 CSP2005:2016-1746 cervical neoplasm SNOMEDCT_2005_07_31:123841004 neoplasm of uterine cervix (disorder) NCI2004_11_17:C2940 tumor of the Cervix Uteri malignant breast melanoma DOID:4364 NCI:C8410 SNOMEDCT_US_2015_03_01:188050009 UMLS_CUI:C0346787 breast melanoma disease_ontology malignant melanoma of breast (disorder) SNOMEDCT_2005_07_31:188050009 malignant melanoma of breast (disorder) NCI2004_11_17:C8410 breast melanoma apparent mineralocorticoid excess syndrome DOID:4367 MSH:D043204 SNOMEDCT_US_2015_03_01:237770005 UMLS_CUI:C0342488 disease_ontology syndrome of apparent mineralocorticoid excess (disorder) SNOMEDCT_2005_07_31:237770005 syndrome of apparent mineralocorticoid excess (disorder) brain hypoxia-Ischemia DOID:4369 disease_ontology true myasthenia gravis DOID:437 DOID:443 DOID:444 ICD10CM:G70.0 ICD10CM:G70.00 ICD9CM:358.0 ICD9CM:358.00 MSH:D009157 NCI:C60989 OMIM mapping confirmed by DO. [SN]. OMIM:254200 SNOMEDCT_US_2015_03_01:155092009 SNOMEDCT_US_2015_03_01:193208002 SNOMEDCT_US_2015_03_01:91637004 UMLS_CUI:C0026896 UMLS_CUI:C1260409 disease_ontology stomach diverticulosis DOID:4370 MSH:D045724 UMLS_CUI:C1148546 disease_ontology Schnitzler syndrome DOID:4371 MSH:D019873 SNOMEDCT_US_2015_03_01:402415001 Schnitzler syndrome (disorder) UMLS_CUI:C0524988 disease_ontology SNOMEDCT_2005_07_31:402415001 Schnitzler syndrome (disorder) intracranial embolism Cerebral embolism with cerebral infarction DOID:1957 DOID:1958 DOID:4372 ICD10CM:I66 ICD9CM:434.1 MSH:D020766 SNOMEDCT_US_2015_03_01:155402009 SNOMEDCT_US_2015_03_01:75543006 UMLS_CUI:C0007780 UMLS_CUI:C0752140 cerebral embolism disease_ontology silo filler's disease DOID:4374 MSH:D012832 SNOMEDCT_US_2015_03_01:61233003 Silo-fillers' disease Silo-fillers' disease (disorder) UMLS_CUI:C0037120 disease_ontology silo filler disease MTHICD9_2006:506.9 Silo-fillers' disease SNOMEDCT_2005_07_31:61233003 Silo-fillers' disease (disorder) agricultural workers' disease DOID:4375 disease_ontology true milk allergic reaction A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. DOID:4376 MSH:D016269 UMLS_CUI:C0079840 disease_ontology A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. url:http://en.wikipedia.org/wiki/Milk_hypersensitivity egg allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. Allergy to eggs (disorder) DOID:4377 Egg allergy MSH:D021181 SNOMEDCT_US_2015_03_01:157802003 SNOMEDCT_US_2015_03_01:213019003 SNOMEDCT_US_2015_03_01:91930004 UMLS_CUI:C0559469 disease_ontology Egg allergy SNOMEDCT_2005_07_31:213019003 A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy#Foods Egg allergy SNOMEDCT_2005_07_31:157802003 Allergy to eggs (disorder) SNOMEDCT_2005_07_31:91930004 peanut allergic reaction A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. Allergy to peanuts (disorder) DOID:4378 MSH:D021183 Peanut allergy SNOMEDCT_US_2015_03_01:213021008 SNOMEDCT_US_2015_03_01:91935009 UMLS_CUI:C0559470 disease_ontology Peanut allergy SNOMEDCT_2005_07_31:213021008 Allergy to peanuts (disorder) SNOMEDCT_2005_07_31:91935009 A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy#Foods nut allergic reaction Allergy to nuts (disorder) Allergy to nuts other than peanuts DOID:4379 MSH:D021184 Nut allergy SNOMEDCT_US_2015_03_01:395654004 SNOMEDCT_US_2015_03_01:91934008 UMLS_CUI:C0577620 disease_ontology Allergy to nuts other than peanuts MTHICD9_2006:V15.05 Nut allergy SNOMEDCT_2005_07_31:395654004 Allergy to nuts (disorder) SNOMEDCT_2005_07_31:91934008 autoimmune disease of the nervous system DOID:438 MSH:D020274 NCI:C99383 UMLS_CUI:C0751871 autoimmune nervous system disorder disease_ontology CSP2005:1560-5548 autoimmune nervous system disorder conventional alveolar rhabdomyosarcoma DOID:4381 disease_ontology true solid alveolar rhabdomyosarcoma DOID:4383 OMIM mapping confirmed by DO. [SN]. disease_ontology true orbit alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma of the orbit DOID:4384 NCI:C6247 UMLS_CUI:C1335126 disease_ontology Alveolar Rhabdomyosarcoma of the orbit NCI2004_11_17:C6247 papillary squamous carcinoma A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. DOID:4385 NCI:C4102 SNOMEDCT_US_2015_03_01:39056008 UMLS_CUI:C0334244 disease_ontology papillary epidermoid carcinoma A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. url:http://www.sciencedirect.com/science/article/pii/S0090825803003299 myofibroma DOID:4386 Lipoleiomyoma MSH:D047708 Myofibroma Myofibroma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128917003 SNOMEDCT_US_2015_03_01:44598004 UMLS_CUI:C1266121 disease_ontology Lipoleiomyoma SNOMEDCT_2005_07_31:44598004 Myofibroma SNOMEDCT_2005_07_31:128917003 recurrent peripheral primitive neuroectodermal tumor DOID:4387 disease_ontology true bone peripheral neuroepithelioma DOID:4388 NCI:C8776 UMLS_CUI:C0855009 disease_ontology osseous peripheral Neuroepithelioma NCI2004_11_17:C8776 osseous peripheral Neuroepithelioma soft tissue peripheral neuroepithelioma DOID:4389 NCI:C27471 UMLS_CUI:C1112437 disease_ontology peripheral Neuroectodermal tumor of soft tissues NCI2004_11_17:C27471 peripheral Neuroectodermal tumor of soft tissues neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. DOID:439 MSH:D020511 SNOMEDCT_US_2015_03_01:128213006 UMLS_CUI:C0751950 disease_ontology A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. url:http://en.wikipedia.org/wiki/Neuromuscular_junction_disease Henipavirus infectious disease A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. DOID:4393 disease_ontology true A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. url:http://en.wikipedia.org/wiki/Henipavirus url:http://www.expasy.org/viralzone/all_by_species/85.html reticulohistiocytic granuloma DOID:4394 MSH:D015616 NCI:C3356 Reticulohistiocytic granuloma (morphologic abnormality) Reticulohistiocytoma SNOMEDCT_US_2015_03_01:128741006 SNOMEDCT_US_2015_03_01:15960008 SNOMEDCT_US_2015_03_01:189097004 SNOMEDCT_US_2015_03_01:404162004 Solitary Reticulohistiocytoma Solitary reticulohistiocytoma UMLS_CUI:C0035290 disease_ontology SNOMEDCT_2005_07_31:404162004 Solitary reticulohistiocytoma Reticulohistiocytic granuloma (morphologic abnormality) SNOMEDCT_2005_07_31:15960008 Reticulohistiocytoma SNOMEDCT_2005_07_31:128741006 Reticulohistiocytoma SNOMEDCT_2005_07_31:189097004 NCI2004_11_17:C3356 Solitary Reticulohistiocytoma granulomatous dermatitis DOID:4397 NCI:C3505 UMLS_CUI:C0743086 disease_ontology pustulosis of palm and sole Acropustulosis DOID:4398 ICD10CM:L40.3 MSH:D011565 NCI:C34888 Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles SNOMEDCT_US_2015_03_01:238610005 SNOMEDCT_US_2015_03_01:27520001 UMLS_CUI:C0030246 disease_ontology Pustular psoriasis of the palms and/or soles SNOMEDCT_2005_07_31:27520001 NCI2004_11_17:C34888 Palmoplantar Pustulosis Acropustulosis SNOMEDCT_2005_07_31:238610005 acneiform dermatitis DOID:4399 NCI:C35277 UMLS_CUI:C0234894 disease_ontology neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles. DOID:440 ICD10CM:G70.9 ICD9CM:358 ICD9CM:358.9 MSH:D009468 SNOMEDCT_US_2015_03_01:1664005 SNOMEDCT_US_2015_03_01:193218007 SNOMEDCT_US_2015_03_01:255522009 SNOMEDCT_US_2015_03_01:257277002 UMLS_CUI:C0027868 disease_ontology A neuropathy that affect the nerves that control the voluntary muscles. url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html dermatosis papulosa nigra DOID:4400 Dermatosis papulosa nigra Dermatosis papulosa nigra (disorder) Dermatosis papulosa nigra (morphologic abnormality) ICD10CM:L82 MSH:C562379 NCI:C2984 OMIM mapping confirmed by DO. [SN]. OMIM:125600 SNOMEDCT_US_2015_03_01:103672009 SNOMEDCT_US_2015_03_01:254669003 SNOMEDCT_US_2015_03_01:25499005 UMLS_CUI:C0011645 disease_ontology Dermatosis papulosa nigra (disorder) SNOMEDCT_2005_07_31:254669003 Dermatosis papulosa nigra (morphologic abnormality) SNOMEDCT_2005_07_31:103672009 Dermatosis papulosa nigra SNOMEDCT_2005_07_31:25499005 cervical glandular tumor DOID:4403 disease_ontology true occupational dermatitis DOID:4404 MSH:D009783 NCI:C34859 Occupational Dermatitis Occupational allergic contact dermatitis (disorder) Occupational dermatitis Occupational dermatitis (disorder) Occupational eczema Occupational eczema (disorder) Occupational eczema (disorder) [Ambiguous] SNOMEDCT_US_2015_03_01:156338009 SNOMEDCT_US_2015_03_01:200780008 SNOMEDCT_US_2015_03_01:225055005 SNOMEDCT_US_2015_03_01:238578002 SNOMEDCT_US_2015_03_01:267842005 SNOMEDCT_US_2015_03_01:402587003 SNOMEDCT_US_2015_03_01:83252008 UMLS_CUI:C0028796 disease_ontology Occupational eczema (disorder) [Ambiguous] SNOMEDCT_2005_07_31:83252008 NCI2004_11_17:C34859 Occupational Dermatitis Occupational allergic contact dermatitis (disorder) SNOMEDCT_2005_07_31:238578002 Occupational eczema SNOMEDCT_2005_07_31:156338009 Occupational dermatitis SNOMEDCT_2005_07_31:200780008 Occupational eczema (disorder) SNOMEDCT_2005_07_31:225055005 Occupational dermatitis (disorder) SNOMEDCT_2005_07_31:402587003 Occupational eczema SNOMEDCT_2005_07_31:267842005 spongiotic dermatitis DOID:4406 NCI:C27037 SNOMEDCT_US_2015_03_01:23615008 Spongiotic dermatitis (disorder) UMLS_CUI:C0262984 disease_ontology SNOMEDCT_2005_07_31:23615008 Spongiotic dermatitis (disorder) phototoxic dermatitis DOID:4407 MSH:D017484 NCI:C4816 Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness Phototoxic dermatitis (disorder) SNOMEDCT_US_2015_03_01:53597009 SNOMEDCT_US_2015_03_01:84326006 UMLS_CUI:C0162830 disease_ontology NCI2004_11_17:C4816 Photosensitive Dermatitis MTHICD9_2006:692.79 Photosensitiveness Photosensitisation reaction SNOMEDCT_2005_07_31:84326006 Phototoxic dermatitis (disorder) SNOMEDCT_2005_07_31:53597009 folliculitis (Folliculitis) or (seborrhea capitis) DOID:4409 MSH:D005499 NCI:C94408 SNOMEDCT_US_2015_03_01:13600006 SNOMEDCT_US_2015_03_01:156411003 SNOMEDCT_US_2015_03_01:201177005 SNOMEDCT_US_2015_03_01:201183008 SNOMEDCT_US_2015_03_01:267863007 UMLS_CUI:C0016436 disease_ontology (Folliculitis) or (seborrhea capitis) SNOMEDCT_2005_07_31:201177005 contact dermatitis due to arnica Allergic Dermatitis due to Arnica Contact dermatitis due to arnica (disorder) DOID:4410 Dermatitis due to arnica disease_ontology true Contact dermatitis due to arnica (disorder) SNOMEDCT_2005_07_31:40712008 Allergic Dermatitis due to Arnica NCI2004_11_17:C35308 Dermatitis due to arnica MTHICD9_2006:692.3 hepatitis E A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. DOID:12431 DOID:4411 MSH:D016751 SNOMEDCT_US_2015_03_01:7111000119109 UMLS_CUI:C0085293 disease_ontology A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1 Astroviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. DOID:4412 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. url:http://en.wikipedia.org/wiki/Astroviridae cervix melanoma DOID:4413 NCI:C40239 UMLS_CUI:C0877611 disease_ontology fibrous histiocytoma DOID:4415 Fibroxanthoma NOS (morphologic abnormality) MSH:D018219 NCI:C3739 SNOMEDCT_US_2015_03_01:189769003 SNOMEDCT_US_2015_03_01:189770002 SNOMEDCT_US_2015_03_01:25889007 UMLS_CUI:C0206644 benign fibrous histiocytoma (morphologic abnormality) disease_ontology fibrous Histiocytoma fibrous histiocytoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189769003 fibrous histiocytoma NOS (morphologic abnormality) Fibroxanthoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189770002 NCI2004_11_17:C3739 fibrous Histiocytoma SNOMEDCT_2005_07_31:25889007 benign fibrous histiocytoma (morphologic abnormality) cutaneous fibrous histiocytoma DOID:4417 DOID:4418 Dermatofibroma Dermatofibroma NOS Dermatofibroma, no ICD-O subtype (morphologic abnormality) Fibrohistiocytic neoplasm Fibrohistiocytic tumor (disorder) MSH:D018219 NCI:C6801 NCI:C8402 Pleomorphic fibroma SNOMEDCT_US_2015_03_01:134302009 SNOMEDCT_US_2015_03_01:189051001 SNOMEDCT_US_2015_03_01:254749001 SNOMEDCT_US_2015_03_01:254750001 SNOMEDCT_US_2015_03_01:254753004 SNOMEDCT_US_2015_03_01:302843004 SNOMEDCT_US_2015_03_01:403997008 SNOMEDCT_US_2015_03_01:403999006 SNOMEDCT_US_2015_03_01:427186000 SNOMEDCT_US_2015_03_01:448015002 SNOMEDCT_US_2015_03_01:72079004 Sclerosing angioma (morphologic abnormality) Sclerosing angioma of skin UMLS_CUI:C0002991 UMLS_CUI:C0346049 benign Cutaneous fibrous Histiocytoma dermatofibroma disease_ontology fibrohistiocytic tumor fibrous histiocytoma of skin (disorder) fibrous xanthoma of skin (disorder) Dermatofibroma NOS SNOMEDCT_2005_07_31:302843004 SNOMEDCT_2005_07_31:134302009 Sclerosing angioma (morphologic abnormality) SNOMEDCT_2005_07_31:254750001 fibrous histiocytoma of skin (disorder) CSP2005:2004-1029 dermatofibroma Fibrohistiocytic neoplasm NCI2004_11_17:C8402 Fibrohistiocytic tumor (disorder) SNOMEDCT_2005_07_31:254749001 NCI2004_11_17:C6801 benign Cutaneous fibrous Histiocytoma SNOMEDCT_2005_07_31:403999006 Sclerosing angioma of skin Dermatofibroma SNOMEDCT_2005_07_31:189051001 SNOMEDCT_2005_07_31:254753004 fibrous xanthoma of skin (disorder) Dermatofibroma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:72079004 Pleomorphic fibroma SNOMEDCT_2005_07_31:403997008 benign deep fibrous histiocytoma DOID:4419 NCI:C6492 SNOMEDCT_US_2015_03_01:128741006 UMLS_CUI:C1266125 disease_ontology malignant adenofibroma DOID:4422 NCI:C40035 UMLS_CUI:C1510778 disease_ontology sea-blue histiocyte syndrome DOID:4423 MSH:D012618 NCI:C85062 OMIM mapping confirmed by DO. [SN]. OMIM:269600 SNOMEDCT_US_2015_03_01:37821003 Sea-blue histiocyte syndrome (disorder) UMLS_CUI:C0036489 disease_ontology SNOMEDCT_2005_07_31:37821003 Sea-blue histiocyte syndrome (disorder) juvenile xanthogranuloma DOID:4424 MSH:D014972 Multiple eruptive juvenile xanthogranuloma NCI:C3451 Naevoxanthoendothelioma SNOMEDCT_US_2015_03_01:189098009 SNOMEDCT_US_2015_03_01:400031009 SNOMEDCT_US_2015_03_01:400204000 SNOMEDCT_US_2015_03_01:71709009 UMLS_CUI:C0043324 Xanthoma neviforme disease_ontology SNOMEDCT_2005_07_31:400031009 Xanthoma neviforme Naevoxanthoendothelioma SNOMEDCT_2005_07_31:189098009 SNOMEDCT_2005_07_31:71709009 Xanthoma neviforme Multiple eruptive juvenile xanthogranuloma SNOMEDCT_2005_07_31:400204000 lipogranuloma DOID:4425 Lipogranuloma (disorder) Lipogranuloma (morphologic abnormality) Oil granuloma (disorder) Xanthogranuloma Xanthogranuloma (disorder) disease_ontology lipogranulomatosis true CSP2005:1746-4981 lipogranulomatosis SNOMEDCT_2005_07_31:189099001 Xanthogranuloma (disorder) NCI2004_11_17:C27302 Xanthogranuloma Lipogranuloma (morphologic abnormality) SNOMEDCT_2005_07_31:36279001 Oil granuloma (disorder) SNOMEDCT_2005_07_31:238892000 Lipogranuloma (disorder) SNOMEDCT_2005_07_31:416439000 dyslexia A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. DOID:4428 ICD10CM:F81.0 MSH:D004410 NCI:C96410 OMIM:127700 OMIM:300509 OMIM:600202 OMIM:604254 OMIM:606616 OMIM:606896 OMIM:608995 SNOMEDCT_US_2015_03_01:154954003 SNOMEDCT_US_2015_03_01:158318003 SNOMEDCT_US_2015_03_01:192137002 SNOMEDCT_US_2015_03_01:206987006 SNOMEDCT_US_2015_03_01:268788005 SNOMEDCT_US_2015_03_01:52824009 SNOMEDCT_US_2015_03_01:59770006 SNOMEDCT_US_2015_03_01:9236007 UMLS_CUI:C0476254 Xref MGI. disease_ontology A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. url:http://en.wikipedia.org/wiki/Dyslexia somatostatinoma DOID:4430 MSH:D013005 NCI:C3379 SNOMEDCT_US_2015_03_01:128642005 SNOMEDCT_US_2015_03_01:253006001 Somatostatin cell neoplasm Somatostatin cell tumour Somatostatinoma (disorder) UMLS_CUI:C0037661 disease_ontology SNOMEDCT_2005_07_31:253006001 Somatostatinoma (disorder) SNOMEDCT_2005_07_31:128642005 Somatostatin cell tumour NCI2004_11_17:C3379 Somatostatin cell neoplasm pancreatic somatostatinoma DOID:4432 NCI:C8006 NCI:C95595 UMLS_CUI:C1368041 disease_ontology pancreatic Somatostatin cell tumor pancreatic delta cell somatostatin producing neoplasm NCI2004_11_17:C8006 pancreatic Somatostatin cell tumor pancreatic delta cell neoplasm DOID:4433 NCI:C28396 UMLS_CUI:C1335301 disease_ontology pancreatic Delta cell tumor NCI2004_11_17:C28396 pancreatic Delta cell tumor small intestine neuroendocrine neoplasm DOID:4434 NCI:C5803 UMLS_CUI:C1336005 disease_ontology small Intestine neuroendocrine tumor NCI2004_11_17:C5803 small Intestine neuroendocrine tumor cavernous sinus meningioma DOID:4435 NCI:C5268 UMLS_CUI:C1332865 disease_ontology meningioma of the Cavernous sinus NCI2004_11_17:C5268 meningioma of the Cavernous sinus anterior cranial fossa meningioma DOID:4436 NCI:C5286 UMLS_CUI:C1332301 disease_ontology meningioma of the Anterior Fossa NCI2004_11_17:C5286 meningioma of the Anterior Fossa skull base meningioma DOID:4437 NCI:C5272 UMLS_CUI:C1335976 disease_ontology meningioma of the Skull Base NCI2004_11_17:C5272 meningioma of the Skull Base central nervous system germinoma DOID:4438 NCI:C7009 UMLS_CUI:C1333813 disease_ontology germinoma of CNS NCI2004_11_17:C7009 germinoma of CNS central nervous system germ cell tumor DOID:4439 NCI:C5461 UMLS_CUI:C1332880 disease_ontology germ cell tumor of the CNS NCI2004_11_17:C5461 germ cell tumor of the CNS seminoma A germinoma that has_material_basis_in cells that make sperm and eggs. DOID:4440 MSH:D018239 NCI:C7328 NCI:C9309 OMIM mapping confirmed by DO. [LS]. OMIM:273300 SNOMEDCT_US_2015_03_01:154532006 SNOMEDCT_US_2015_03_01:188228003 SNOMEDCT_US_2015_03_01:189840000 SNOMEDCT_US_2015_03_01:189841001 SNOMEDCT_US_2015_03_01:255107005 SNOMEDCT_US_2015_03_01:269603004 SNOMEDCT_US_2015_03_01:36741007 SNOMEDCT_US_2015_03_01:443675005 Seminoma, Pure UMLS_CUI:C0036631 disease_ontology NCI2004_11_17:C9309 Seminoma, Pure A germinoma that has_material_basis_in cells that make sperm and eggs. url:http://www.cancer.gov/dictionary?CdrID=46577 dysgerminoma A germ cell cancer that derives_from cells that give rise to egg cells. DOID:4441 MSH:D004407 NCI:C2996 SNOMEDCT_US_2015_03_01:60718004 UMLS_CUI:C0013377 disease_ontology A germ cell cancer that derives_from cells that give rise to egg cells. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 cervical alveolar soft part sarcoma An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. DOID:4442 NCI:C40225 UMLS_CUI:C1516408 disease_ontology An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. url:http://www.ncbi.nlm.nih.gov/pubmed/2479947 cervical soft tissue tumor DOID:4443 disease_ontology true arachnoid cyst Arachnoid cyst Arachnoid cyst (disorder) DOID:4445 Leptomeningeal Cyst disease_ontology true Arachnoid cyst (disorder) SNOMEDCT_2005_07_31:33595009 Arachnoid cyst MTHICD9_2006:348.0 Leptomeningeal Cyst NCI2004_11_17:C3455 central nervous system cyst Cyst of central nervous system (disorder) Cyst of the CNS DOID:4446 disease_ontology true Cyst of central nervous system (disorder) SNOMEDCT_2005_07_31:277333006 Cyst of the CNS NCI2004_11_17:C4657 cystoid macular edema Cystoid Macular Edema Cystoid macular edema Cystoid macular edema (disorder) DOID:4447 MSH:D008269 NCI:C34794 OMIM mapping confirmed by DO. [SN]. OMIM:153880 SNOMEDCT_US_2015_03_01:193387007 UMLS_CUI:C0024440 disease_ontology Cystoid macular edema MTHICD9_2006:362.53 Cystoid Macular Edema NCI2004_11_17:C34794 Cystoid macular edema (disorder) SNOMEDCT_2005_07_31:193387007 macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. DOID:4448 Macular degeneration of retina, unspecified ORDO:279 SNOMEDCT_US_2015_03_01:302891003 SNOMEDCT_US_2015_03_01:422338006 UMLS_CUI:C0024437 Xref MGI. disease_ontology MTHICD9_2006:362.50 Macular degeneration of retina, unspecified A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration url:http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 macular retinal edema DOID:4449 MACULAR EDEMA MSH:D008269 Macular Edema Macular retinal edema (disorder) NCI:C35468 SNOMEDCT_US_2015_03_01:37231002 UMLS_CUI:C0271051 disease_ontology macular edema CSP2005:0465-4760 macular edema MACULAR EDEMA MTH:NOCODE CSP2005:1114-9311 macular edema Macular retinal edema (disorder) SNOMEDCT_2005_07_31:37231002 Macular Edema NCI2004_11_17:C35468 Bartter disease Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome DOID:445 ICD10CM:E26.81 ICD9CM:255.13 MSH:D001477 NCI:C34412 OMIM:241200 OMIM:601678 OMIM:602522 OMIM:607364 OMIM:613090 SNOMEDCT_US_2015_03_01:190506003 SNOMEDCT_US_2015_03_01:707742001 SNOMEDCT_US_2015_03_01:71275003 UMLS_CUI:C0004775 disease_ontology Bartter's syndrome NCI2004_11_17:C34412 Bartter's syndrome CSP2005:1849-1690 Bartter's syndrome ICD9CM_2006:255.13 Aldosteronism with hyperplasia of the adrenal cortex SNOMEDCT_2005_07_31:71275003 Bartter's syndrome SNOMEDCT_2005_07_31:190506003 renal cell carcinoma A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. DOID:4450 EFO:0000681 MSH:D002292 NCI:C9385 OMIM:300854 RCC SNOMEDCT_US_2015_03_01:254915003 SNOMEDCT_US_2015_03_01:41607009 SNOMEDCT_US_2015_03_01:702391001 UMLS_CUI:C0007134 Xref MGI. adenocarcinoma of kidney disease_ontology hypernephroma (disorder) SNOMEDCT_2005_07_31:254915003 adenocarcinoma of kidney A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=661352 CSP2005:4003-0049 RCC SNOMEDCT_2005_07_31:188251003 hypernephroma (disorder) renal carcinoma A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). DOID:4451 NCI:C9384 SNOMEDCT_US_2015_03_01:254915003 UMLS_CUI:C1378703 carcinoma of kidney disease_ontology kidney carcinoma SNOMEDCT_2005_07_31:254915003 carcinoma of kidney A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma recurrent renal cell carcinoma DOID:4452 Relapsed Renal cell carcinoma disease_ontology true NCI2004_11_17:C7825 Relapsed Renal cell carcinoma childhood kidney cell carcinoma DOID:4454 NCI:C6568 UMLS_CUI:C1333001 disease_ontology pediatric renal cell carcinoma NCI2004_11_17:C6568 pediatric renal cell carcinoma hereditary renal cell carcinoma DOID:4455 disease_ontology hyperaldosteronism An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. DOID:446 ICD10CM:E26 ICD10CM:E26.9 ICD9CM:255.1 ICD9CM:255.10 MSH:D006929 NCI:C113213 OMIM:605635 OMIM:613677 ORDO:235936 SNOMEDCT_US_2015_03_01:154709005 SNOMEDCT_US_2015_03_01:190506003 SNOMEDCT_US_2015_03_01:190509005 SNOMEDCT_US_2015_03_01:267484005 SNOMEDCT_US_2015_03_01:88213004 UMLS_CUI:C0020428 Xref MGI. disease_ontology An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. url:http://en.wikipedia.org/wiki/Hyperaldosteronism multilocular clear cell renal cell carcinoma DOID:4463 NCI:C4524 SNOMEDCT_US_2015_03_01:254916002 UMLS_CUI:C0346249 cystadenocarcinoma of kidney (disorder) disease_ontology renal cystadenocarcinoma SNOMEDCT_2005_07_31:254916002 cystadenocarcinoma of kidney (disorder) NCI2004_11_17:C4524 renal cystadenocarcinoma collecting duct carcinoma Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). DOID:4464 MSH:D002292 NCI:C6194 NCI:C7572 SNOMEDCT_US_2015_03_01:128669006 UMLS_CUI:C1266044 carcinoma of renal Collecting duct disease_ontology renal Medullary carcinoma renal carcinoma, collecting duct type NCI2004_11_17:C6194 carcinoma of renal Collecting duct Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html NCI2004_11_17:C7572 renal Medullary carcinoma SNOMEDCT_2005_07_31:128669006 renal carcinoma, collecting duct type papillary renal cell carcinoma A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. Chromophil carcinoma of kidney DOID:4465 DOID:8063 MSH:C538614 MSH:D002292 NCI:C27890 NCI:C6975 OMIM mapping confirmed by DO. [SN]. OMIM:605074 Papillary renal cell carcinoma SNOMEDCT_US_2015_03_01:4797003 UMLS_CUI:C1306837 UMLS_CUI:C1336078 disease_ontology papillary kidney carcinoma sporadic papillary renal cell carcinoma Papillary renal cell carcinoma SNOMEDCT_2005_07_31:4797003 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/kidneypapillary url:http://www.omim.org/entry/605074 Chromophil carcinoma of kidney NCI2004_11_17:C6975 renal clear cell carcinoma A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. Clear cell carcinoma of kidney (disorder) Clear-cell metastatic renal cell carcinoma DOID:4467 MSH:C538445 added from NeuroDevNet [WAK]. MSH:D002292 NCI:C4033 SNOMEDCT_US_2015_03_01:188251003 SNOMEDCT_US_2015_03_01:254915003 SNOMEDCT_US_2015_03_01:41607009 UMLS_CUI:C0279702 clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma disease_ontology A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/kidneyclearcell url:http://www.cancer.gov/dictionary?CdrID=45063 Clear cell carcinoma of kidney (disorder) SNOMEDCT_2005_07_31:254915003 MTH:NOCODE conventional (Clear cell) renal cell carcinoma Clear-cell metastatic renal cell carcinoma MSH:C538445 NCI2004_11_17:C4033 conventional renal cell carcinoma clear cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. Clear cell adenocarcinoma (morphologic abnormality) Clear cell adenocarcinoma NOS (morphologic abnormality) DOID:2617 DOID:4468 DOID:4940 MSH:D008649 MSH:D018262 Mesonephroid Clear cell carcinoma Mesonephroma NOS (morphologic abnormality) Mesonephroma, malignant (morphologic abnormality) NCI:C36815 NCI:C3766 NCI:C4072 NCI:C4156 SNOMEDCT_US_2015_03_01:189633003 SNOMEDCT_US_2015_03_01:189861007 SNOMEDCT_US_2015_03_01:2221008 SNOMEDCT_US_2015_03_01:30546008 SNOMEDCT_US_2015_03_01:80727009 UMLS_CUI:C0025490 UMLS_CUI:C0206681 UMLS_CUI:C0334322 Water-Clear cell adenocarcinoma Water-clear cell adenocarcinoma (morphologic abnormality) Water-clear cell carcinoma Wolffian duct neoplasm disease_ontology malignant Mesonephroma mesonephroma NCI2004_11_17:C6782 Wolffian duct neoplasm NCI2004_11_17:C4072 malignant Mesonephroma SNOMEDCT_2005_07_31:80727009 Water-clear cell adenocarcinoma (morphologic abnormality) Clear cell adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189633003 Mesonephroma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:2221008 Clear cell adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:30546008 An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 Mesonephroma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189861007 NCI2004_11_17:C4156 Water-Clear cell adenocarcinoma Mesonephroid Clear cell carcinoma NCI2004_11_17:C3766 renal tubular transport disease DOID:447 MSH:D015499 UMLS_CUI:C0035091 disease_ontology inborn renal tubular transport disorder CSP2005:1849-8301 inborn renal tubular transport disorder chromophobe adenocarcinoma A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. Chromophobe carcinoma of kidney DOID:4471 MSH:D002292 NCI:C4146 SNOMEDCT_US_2015_03_01:128667008 SNOMEDCT_US_2015_03_01:1443001 UMLS_CUI:C1266042 chromophobe renal cell carcinoma disease_ontology kidney chromophobe renal cell carcinoma, chromophobe cell A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/ChromophobeRenalCellCarcinoma url:http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf Chromophobe carcinoma of kidney NCI2004_11_17:C4146 SNOMEDCT_2005_07_31:128667008 renal cell carcinoma, chromophobe cell mucinous tubular and spindle renal cell carcinoma DOID:4472 NCI:C39807 UMLS_CUI:C1513719 disease_ontology sarcomatoid renal cell carcinoma DOID:4473 MSH:D002292 NCI:C27893 SNOMEDCT_US_2015_03_01:128668003 UMLS_CUI:C1266043 disease_ontology renal cell carcinoma, spindle cell SNOMEDCT_2005_07_31:128668003 renal cell carcinoma, spindle cell drug-Induced dyskinesia DOID:4478 Drug-induced dyskinesia Drug-induced dyskinesia (disorder) disease_ontology true Drug-induced dyskinesia (disorder) SNOMEDCT_2005_07_31:102448004 Drug-induced dyskinesia SNOMEDCT_2005_07_31:38941006 pseudohypoaldosteronism DOID:4479 MSH:D011546 NCI:C85034 Pseudohypoaldosteronism (disorder) SNOMEDCT_US_2015_03_01:77098009 UMLS_CUI:C0033805 disease_ontology Pseudohypoaldosteronism (disorder) SNOMEDCT_2005_07_31:77098009 facial neoplasm DOID:448 disease_ontology face neoplasm neoplasm of face (disorder) true SNOMEDCT_2005_07_31:126632002 neoplasm of face (disorder) CSP2005:2005-4325 face neoplasm achondroplasia Achondroplastic physique An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. Chondrodystrophia DOID:4480 ICD10CM:Q77.4 MSH:D000130 NCI:C34345 OMIM mapping confirmed by DO. [SN]. OMIM:100800 SNOMEDCT_US_2015_03_01:190584003 SNOMEDCT_US_2015_03_01:205467007 SNOMEDCT_US_2015_03_01:248299001 SNOMEDCT_US_2015_03_01:268273004 SNOMEDCT_US_2015_03_01:268350005 SNOMEDCT_US_2015_03_01:86268005 UMLS_CUI:C0001080 disease_ontology osteosclerosis congenita CSP2005:2715-2940 osteosclerosis congenita An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. url:http://en.wikipedia.org/wiki/Achondroplasia url:http://ghr.nlm.nih.gov/condition/achondroplasia url:http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms url:http://www.medicinenet.com/achondroplasia/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm Achondroplastic physique SNOMEDCT_2005_07_31:190584003 Chondrodystrophia MTHICD9_2006:756.4 allergic rhinitis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. Allergic rhinitis due to pollen Allergic rhinitis due to pollen (disorder) Allergy to pollen (disorder) DOID:12089 DOID:14030 DOID:4481 DOID:8241 DOID:8242 EFO:0003956 Hay Fever Hay fever - pollens NCI:C34987 Non-seasonal allergic rhinitis OMIM:607154 Perenial allergic rhinitis Pollinosis SNOMEDCT_US_2015_03_01:38103000 Seasonal allergic rhinitis Seasonal allergic rhinitis (disorder) Seasonal allergic rhinitis (disorder) [Ambiguous] UMLS_CUI:C0002103 allergic rhinitis due to animal (cat) (dog) hair and dander allergic rhinitis due to food atopic rhinitis disease_ontology hay fever pollenosis seasonal allergic rhinitis Hay fever - pollens SNOMEDCT_2005_07_31:195818002 Allergy to pollen (disorder) SNOMEDCT_2005_07_31:300910009 SNOMEDCT_2005_07_31:70369002 Seasonal allergic rhinitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:367498001 Seasonal allergic rhinitis (disorder) Hay Fever MTH:040 Perenial allergic rhinitis SNOMEDCT_2005_07_31:266386004 Allergic rhinitis due to pollen ICD9CM_2006:477.0 Non-seasonal allergic rhinitis SNOMEDCT_2005_07_31:38103000 MTHICD9_2006:477.0 Pollinosis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_rhinitis url:http://en.wikipedia.org/wiki/Rhinitis url:http://www.aaaai.org/patients/resources/easy_reader/rhinitis.pdf url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis CSP2005:1524-8625 CSP2005:1525-2316 pollenosis Perenial allergic rhinitis SNOMEDCT_2005_07_31:155537009 Allergic rhinitis due to pollen (disorder) SNOMEDCT_2005_07_31:21719001 SNOMEDCT_2005_07_31:155536000 SNOMEDCT_2005_07_31:155537009 SNOMEDCT_2005_07_31:266386004 Seasonal allergic rhinitis rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. DOID:4483 MSH:D012220 NCI:C34986 SNOMEDCT_US_2015_03_01:70076002 UMLS_CUI:C0035455 disease_ontology runny nose A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. url:http://en.wikipedia.org/wiki/Rhinitis malignant biphasic mesothelioma DOID:4486 Mesothelioma, biphasic, malignant (morphologic abnormality) NCI:C4282 SNOMEDCT_US_2015_03_01:30383009 UMLS_CUI:C0334515 disease_ontology mixed Mesothelioma Mesothelioma, biphasic, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:30383009 NCI2004_11_17:C4282 mixed Mesothelioma sarcomatoid mesothelioma DOID:4488 NCI:C45655 SNOMEDCT_US_2015_03_01:209241006 SNOMEDCT_US_2015_03_01:399477001 SNOMEDCT_US_2015_03_01:54443001 UMLS_CUI:C0334513 disease_ontology malignant fibrous Mesothelioma malignant fibrous mesothelioma (morphologic abnormality) sarcomatoid mesothelioma (morphologic abnormality) spindled mesothelioma SNOMEDCT_2005_07_31:54443001 spindled mesothelioma SNOMEDCT_2005_07_31:209241006 malignant fibrous mesothelioma (morphologic abnormality) SNOMEDCT_2005_07_31:399477001 sarcomatoid mesothelioma (morphologic abnormality) NCI2004_11_17:C6747 malignant fibrous Mesothelioma malignant epithelial mesothelioma DOID:4489 NCI:C7985 SNOMEDCT_US_2015_03_01:65278006 UMLS_CUI:C0862312 disease_ontology epithelioid mesothelioma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:65278006 epithelioid mesothelioma, malignant (morphologic abnormality) head neoplasm DOID:449 disease_ontology head neoplasm neoplasm of head (disorder) neoplasm of the head true SNOMEDCT_2005_07_31:126631009 neoplasm of head (disorder) CSP2005:2005-4325 head neoplasm malignant peritoneal solitary fibrous tumor DOID:4490 Pleural and peritoneal Solitary fibrous tumor disease_ontology NCI2004_11_17:C6893 Pleural and peritoneal Solitary fibrous tumor persian gulf syndrome A syndrome affecting returning military veterans and civilian workers of the Gulf War. DOID:4491 Gulf war syndrome (disorder) MSH:D018923 SNOMEDCT_US_2015_03_01:95877004 UMLS_CUI:C0282550 disease_ontology A syndrome affecting returning military veterans and civilian workers of the Gulf War. url:http://en.wikipedia.org/wiki/Gulf_War_syndrome Gulf war syndrome (disorder) SNOMEDCT_2005_07_31:95877004 avian influenza An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. DOID:4492 ICD10CM:J09.X MSH:D005585 SNOMEDCT_US_2015_03_01:55604004 UMLS_CUI:C0016627 avian flu bird flu disease_ontology An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. url:http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm url:http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza Orthomyxoviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. DOID:4493 Orthomyxoviridae disease disease due to Orthomyxoviridae (disorder) disease_ontology true CSP2005:3099-9876 Orthomyxoviridae disease SNOMEDCT_2005_07_31:65093003 disease due to Orthomyxoviridae (disorder) A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae metastatic malignant neoplasm to the cervix DOID:4496 disease_ontology metastasis to the Cervix Uteri secondary malignant neoplasm of cervix uteri (disorder) secondary malignant neoplasm of uterine cervix (disorder) true SNOMEDCT_2005_07_31:188469005 secondary malignant neoplasm of cervix uteri (disorder) NCI2004_11_17:C6385 metastasis to the Cervix Uteri SNOMEDCT_2005_07_31:94251007 secondary malignant neoplasm of uterine cervix (disorder) child nutrition disorder DOID:4499 disease_ontology true myotonic disease A muscular dystrophy that is characterized by progressive muscle wasting and weakness. DOID:450 ICD10CM:G71.1 ICD9CM:359.2 MSH:D020967 NCI:C84913 SNOMEDCT_US_2015_03_01:155096007 SNOMEDCT_US_2015_03_01:193237003 SNOMEDCT_US_2015_03_01:193240003 SNOMEDCT_US_2015_03_01:267713009 UMLS_CUI:C0553604 disease_ontology A muscular dystrophy that is characterized by progressive muscle wasting and weakness. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://www.genome.gov/25521207 hypokalemia DOID:4500 NCI:C34939 UMLS_CUI:C1514284 disease_ontology hypopotassemia potassium deficiency disorder orofaciodigital syndrome A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. DOID:4501 MSH:D009958 UMLS_CUI:C0029294 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome relapsed angiosarcoma DOID:4502 disease_ontology relapsed hemangiosarcoma true NCI2004_11_17:C5384 relapsed hemangiosarcoma central nervous system angiosarcoma A central nervous system sarcoma that is located_in the inner lining of blood vessels. DOID:4504 NCI:C5450 UMLS_CUI:C1332875 disease_ontology hemangiosarcoma of the CNS NCI2004_11_17:C5450 hemangiosarcoma of the CNS A central nervous system sarcoma that is located_in the inner lining of blood vessels. url:http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073 pediatric angiosarcoma An angiosarcoma that affects children. DOID:4505 NCI:C9174 UMLS_CUI:C0279988 disease_ontology pediatric hemangiosarcoma An angiosarcoma that affects children. url:http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ NCI2004_11_17:C9174 pediatric hemangiosarcoma angiosarcoma associated with lymphedema DOID:4509 disease_ontology true aorta angiosarcoma An angiosarcoma that is located_in the aorta. Aortic hemangiosarcoma DOID:4510 NCI:C5376 UMLS_CUI:C1332312 disease_ontology An angiosarcoma that is located_in the aorta. url:http://icvts.ctsnetjournals.org/cgi/content/full/6/6/832 Aortic hemangiosarcoma NCI2004_11_17:C5376 breast angiosarcoma An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. DOID:4511 MSH:C536368 NCI:C5184 UMLS_CUI:C1332614 disease_ontology hemangiosarcoma of the breast An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. url:http://breastcancer.about.com/od/types/p/angiosarcoma.htm NCI2004_11_17:C5184 hemangiosarcoma of the breast conventional angiosarcoma DOID:4512 NCI:C9426 UMLS_CUI:C1333155 disease_ontology gallbladder angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. DOID:4513 NCI:C5840 UMLS_CUI:C1333742 disease_ontology hemangiosarcoma of gallbladder An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. url:http://www.ncbi.nlm.nih.gov/pubmed/15861270 NCI2004_11_17:C5840 hemangiosarcoma of gallbladder thyroid angiosarcoma A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. DOID:4514 NCI:C6043 UMLS_CUI:C1336748 disease_ontology hemangiosarcoma of the Thyroid A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. url:http://www.pathologyoutlines.com/thyroid.html NCI2004_11_17:C6043 hemangiosarcoma of the Thyroid thyroid sarcoma A thyroid cancer that is located_in the supporting cells of the thyroid. DOID:4515 NCI:C6041 UMLS_CUI:C1336756 disease_ontology sarcoma of the Thyroid gland NCI2004_11_17:C6041 sarcoma of the Thyroid gland A thyroid cancer that is located_in the supporting cells of the thyroid. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp skin angiosarcoma An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. DOID:4517 NCI:C4489 SNOMEDCT_US_2015_03_01:254794007 UMLS_CUI:C0346081 angiosarcoma of skin (disorder) disease_ontology hemangiosarcoma of the skin NCI2004_11_17:C4489 hemangiosarcoma of the skin An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. url:http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 SNOMEDCT_2005_07_31:254794007 angiosarcoma of skin (disorder) pleomorphic adenoma A gastrointestinal benign neoplasm that is a located_in the salivary glands. DOID:452 MSH:D008949 NCI:C35691 NCI:C8602 OMIM:181030 Pleomorphic adenoma Pleomorphic adenoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:8360001 UMLS_CUI:C0026277 disease_ontology mixed tumor of the Salivary gland Pleomorphic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8360001 NCI2004_11_17:C35691 mixed tumor of the Salivary gland NCI2004_11_17:C8602 Pleomorphic adenoma A gastrointestinal benign neoplasm that is a located_in the salivary glands. url:http://en.wikipedia.org/wiki/Pleomorphic_adenoma cervical endometrial stromal sarcoma DOID:4520 NCI:C40220 UMLS_CUI:C3642326 disease_ontology endometrial stromal sarcoma of the cervix cervix endometrial stromal tumor DOID:4521 NCI:C40218 UMLS_CUI:C3642325 disease_ontology superior vena cava angiosarcoma DOID:4522 NCI:C5378 UMLS_CUI:C1336530 angiosarcoma of the Superior Vena Cava disease_ontology NCI2004_11_17:C5378 angiosarcoma of the Superior Vena Cava prostate angiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. DOID:4524 NCI:C5528 Prostatic hemangiosarcoma UMLS_CUI:C1335504 disease_ontology NCI2004_11_17:C5528 Prostatic hemangiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. url:http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat mediastinum angiosarcoma An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. DOID:4525 NCI:C6613 UMLS_CUI:C1334649 disease_ontology hemangiosarcoma of mediastinum An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. url:http://meeting.chestpubs.org/cgi/content/abstract/124/4/286S NCI2004_11_17:C6613 hemangiosarcoma of mediastinum ovarian angiosarcoma DOID:4527 NCI:C5232 UMLS_CUI:C1335152 disease_ontology hemangiosarcoma of Ovary NCI2004_11_17:C5232 hemangiosarcoma of Ovary mucoepidermoid carcinoma A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. DOID:4531 MEC MSH:D018277 Mucoepidermoid carcinoma (morphologic abnormality) NCI:C3772 SNOMEDCT_US_2015_03_01:4079000 UMLS_CUI:C0206694 disease_ontology Mucoepidermoid carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4079000 MEC NCI2004_11_17:C3772 A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma Hallermann-Streiff syndrome A syndrome that affects growth, cranial development, hair growth and dental development. DOID:4534 Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome MSH:D006210 NCI:C84746 OMIM mapping confirmed by DO. [SN]. OMIM:234100 ORDO:2108 SNOMEDCT_US_2015_03_01:205417000 SNOMEDCT_US_2015_03_01:7903009 UMLS_CUI:C0018522 disease_ontology A syndrome that affects growth, cranial development, hair growth and dental development. url:http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome Hallerman - Streiff syndrome SNOMEDCT_2005_07_31:205417000 hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. DOID:4535 MSH:D007039 NCI:C34720 OMIM:146520 OMIM:146550 OMIM:278150 OMIM:601553 OMIM:604379 OMIM:605389 OMIM:607903 OMIM:612841 OMIM:613981 OMIM:614237 OMIM:614238 OMIM:615059 OMIM:615885 OMIM:615896 ORDO:55654 SNOMEDCT_US_2015_03_01:53602002 UMLS_CUI:C0020678 Xref MGI. disease_ontology A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. url:http://en.wikipedia.org/wiki/Hypotrichosis url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis labyrinthine disease DOID:4539 MSH:D007759 SNOMEDCT_US_2015_03_01:20425006 SNOMEDCT_US_2015_03_01:267761002 SNOMEDCT_US_2015_03_01:267763004 SNOMEDCT_US_2015_03_01:286945007 UMLS_CUI:C0022890 disease_ontology dysgraphia A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. DOID:4540 ICD10CM:R48.8 MSH:D000381 SNOMEDCT_US_2015_03_01:158321001 SNOMEDCT_US_2015_03_01:206990000 SNOMEDCT_US_2015_03_01:27206009 UMLS_CUI:C0001825 disease_ontology A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. url:http://en.wikipedia.org/wiki/Dysgraphia url:http://www.ncld.org/ld-basics/ld-aamp-language/written-expression/dysgraphia url:http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm nominal aphasia An agnosia that involves a severe problem with recalling words or names. Anomic aphasia (finding) DOID:4541 MSH:D000849 NCI:C34386 SNOMEDCT_US_2015_03_01:10325006 UMLS_CUI:C0003113 anomia disease_ontology CSP2005:1579-3166 anomia Anomic aphasia (finding) SNOMEDCT_2005_07_31:10325006 An agnosia that involves a severe problem with recalling words or names. url:http://en.wikipedia.org/wiki/Nominal_aphasia basophil adenoma DOID:4542 MSH:D000237 NCI:C2856 Pituitary gland Basophilic adenoma SNOMEDCT_US_2015_03_01:9436005 UMLS_CUI:C0001431 disease_ontology NCI2004_11_17:C2856 Pituitary gland Basophilic adenoma retrograde amnesia An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. DOID:4543 ICD10CM:R41.2 MSH:D000648 NCI:C34372 SNOMEDCT_US_2015_03_01:158178004 SNOMEDCT_US_2015_03_01:206784007 SNOMEDCT_US_2015_03_01:51921000 UMLS_CUI:C0002624 disease_ontology An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. url:http://en.wikipedia.org/wiki/Amnesia mesenchymal chondrosarcoma DOID:4545 MSH:D018211 NCI:C3737 SNOMEDCT_US_2015_03_01:56565002 UMLS_CUI:C0206637 disease_ontology pediatric mesenchymal chondrosarcoma DOID:4546 NCI:C27374 UMLS_CUI:C1332982 disease_ontology adult mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. DOID:4547 NCI:C27375 UMLS_CUI:C1332207 disease_ontology An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. url:http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html extraskeletal mesenchymal chondrosarcoma DOID:4548 NCI:C27481 SNOMEDCT_US_2015_03_01:404080006 UMLS_CUI:C1275279 disease_ontology extraskeletal mesenchymal chondrosarcoma (disorder) mesenchymal extraosseous chondrosarcoma NCI2004_11_17:C27481 mesenchymal extraosseous chondrosarcoma SNOMEDCT_2005_07_31:404080006 extraskeletal mesenchymal chondrosarcoma (disorder) extraosseous chondrosarcoma A chondrosarcoma that is located_in exclusively soft tissue. DOID:4549 disease_ontology A chondrosarcoma that is located_in exclusively soft tissue. url:http://www.ncbi.nlm.nih.gov/pubmed/16084955 anal gland neoplasm DOID:4550 MSH:D000694 UMLS_CUI:C0002757 disease_ontology anus neoplasm DOID:4551 MSH:D001005 NCI:C2877 SNOMEDCT_US_2015_03_01:126849006 UMLS_CUI:C0003463 anal neoplasm anal tumors disease_ontology neoplasm of anus (disorder) NCI2004_11_17:C2877 anal tumors CSP2005:2010-1432 anal neoplasm SNOMEDCT_2005_07_31:126849006 neoplasm of anus (disorder) large cell carcinoma A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. DOID:4552 MSH:D018287 NCI:C3780 SNOMEDCT_US_2015_03_01:189551005 SNOMEDCT_US_2015_03_01:22687000 UMLS_CUI:C0206704 disease_ontology A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. url:http://chemo.net/large.htm url:http://en.wikipedia.org/wiki/Carcinoma thymus large cell carcinoma DOID:4553 NCI:C6461 UMLS_CUI:C1334364 disease_ontology large cell carcinoma of the Thymus NCI2004_11_17:C6461 large cell carcinoma of the Thymus type C thymoma DOID:4554 NCI:C7569 SNOMEDCT_US_2015_03_01:128717008 SNOMEDCT_US_2015_03_01:444374006 Thymoma, type C (morphologic abnormality) UMLS_CUI:C1322286 disease_ontology SNOMEDCT_2005_07_31:128717008 Thymoma, type C (morphologic abnormality) ovarian large-cell neuroendocrine carcinoma DOID:4555 NCI:C5238 Non-small-cell type neuroendocrine carcinoma of Ovary UMLS_CUI:C1335174 disease_ontology NCI2004_11_17:C5238 Non-small-cell type neuroendocrine carcinoma of Ovary lung large cell carcinoma DOID:4556 NCI:C4450 SNOMEDCT_US_2015_03_01:254629004 UMLS_CUI:C0345958 disease_ontology large cell carcinoma of lung (disorder) large cell lung carcinoma NCI2004_11_17:C4450 large cell lung carcinoma SNOMEDCT_2005_07_31:254629004 large cell carcinoma of lung (disorder) oral leukoedema DOID:4557 Leukedema of mouth MSH:D007967 SNOMEDCT_US_2015_03_01:67795000 UMLS_CUI:C0023523 disease_ontology Leukedema of mouth SNOMEDCT_2005_07_31:67795000 Ludwig's angina DOID:4558 Ludwig angina MSH:D008158 SNOMEDCT_US_2015_03_01:196542004 SNOMEDCT_US_2015_03_01:54572003 UMLS_CUI:C0024081 cellulitis of floor of mouth disease_ontology MTHICD9_2006:528.3 cellulitis of floor of mouth ascariasis A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. Ascariasis - roundworm Ascaris lumbricoides infection CSP:1248-7284 DOID:456 ICD10CM:B77 ICD10CM:B77.9 ICD9CM:127.0 MSH:D001196 SNOMEDCT_US_2015_03_01:154411000 SNOMEDCT_US_2015_03_01:187172007 SNOMEDCT_US_2015_03_01:187536006 SNOMEDCT_US_2015_03_01:2435008 SNOMEDCT_US_2015_03_01:271435007 UMLS_CUI:C0003950 disease_ontology A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. url:http://en.wikipedia.org/wiki/Ascariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh Ascariasis - roundworm SNOMEDCT_2005_07_31:271435007 non specific chronic endometritis DOID:4560 NCI:C27625 UMLS_CUI:C1335061 disease_ontology granulomatous endometritis DOID:4561 NCI:C27626 UMLS_CUI:C1333876 disease_ontology subacute bacterial endocarditis DOID:4562 Endocarditis lenta MSH:D004698 NCI:C34583 SBE - Subacute bacterial endocarditis SNOMEDCT_US_2015_03_01:155334001 SNOMEDCT_US_2015_03_01:194923008 SNOMEDCT_US_2015_03_01:50194006 SNOMEDCT_US_2015_03_01:73774007 Subacute bacterial endocarditis Subacute bacterial endocarditis (disorder) Subacute endocarditis, lenta UMLS_CUI:C0014122 disease_ontology SNOMEDCT_2005_07_31:73774007 Subacute bacterial endocarditis (disorder) Endocarditis lenta SNOMEDCT_2005_07_31:50194006 SNOMEDCT_2005_07_31:155334001 Subacute bacterial endocarditis SBE - Subacute bacterial endocarditis SNOMEDCT_2005_07_31:194923008 MTHICD9_2006:421.0 Subacute endocarditis, lenta Ascaridida infectious disease A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. DOID:457 disease_ontology true A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. url:http://en.wikipedia.org/wiki/Ascaridida metastatic meningioma DOID:4582 disease_ontology true deletion of short arm of chromosome 1 (1p) associated meningioma DOID:4583 disease_ontology true choroid plexus meningioma Choroid meningioma (morphologic abnormality) DOID:4584 NCI:C4719 SNOMEDCT_US_2015_03_01:253082002 UMLS_CUI:C0431118 disease_ontology meningioma of the Choroid Plexus Choroid meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253082002 NCI2004_11_17:C4719 meningioma of the Choroid Plexus relapsed meningioma DOID:4585 disease_ontology true familial meningioma DOID:4586 MSH:C537443 NCI:C5301 OMIM mapping confirmed by DO. [SN]. OMIM:607174 UMLS_CUI:C1333989 disease_ontology benign meningioma DOID:4587 MSH:D008579 NCI:C4055 UMLS_CUI:C0281784 disease_ontology meningioma, benign NCI2004_11_17:C4055 meningioma, benign secretory meningioma DOID:4588 MSH:D008579 NCI:C4718 SNOMEDCT_US_2015_03_01:19453003 SNOMEDCT_US_2015_03_01:253081009 Secretory meningioma Secretory meningioma (morphologic abnormality) UMLS_CUI:C1384406 disease_ontology NCI2004_11_17:C4718 Secretory meningioma SNOMEDCT_2005_07_31:253081009 Secretory meningioma (morphologic abnormality) deletion of chromosome 22 associated meningioma DOID:4589 disease_ontology true multiple meningiomas DOID:4590 disease_ontology meningiomatosis meningiomatosis (morphologic abnormality) meningiomatosis NOS (morphologic abnormality) true SNOMEDCT_2005_07_31:40935003 meningiomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:189942007 meningiomatosis NOS (morphologic abnormality) NCI2004_11_17:C3707 meningiomatosis lymphoplasmacyte-rich meningioma DOID:4591 Lymphoplasmacyte-Rich meningioma Lymphoplasmocyte-rich meningioma (morphologic abnormality) NCI:C4720 SNOMEDCT_US_2015_03_01:19453003 SNOMEDCT_US_2015_03_01:253083007 UMLS_CUI:C0431119 disease_ontology Lymphoplasmocyte-rich meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253083007 Lymphoplasmacyte-Rich meningioma NCI2004_11_17:C4720 pediatric meningioma DOID:4593 NCI:C8264 UMLS_CUI:C0280656 disease_ontology microcystic meningioma DOID:4594 MSH:D008579 Microcystic meningioma Microcystic meningioma (morphologic abnormality) NCI:C4721 SNOMEDCT_US_2015_03_01:19453003 SNOMEDCT_US_2015_03_01:253084001 UMLS_CUI:C1384408 disease_ontology Microcystic meningioma NCI2004_11_17:C4721 Microcystic meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253084001 adult meningioma DOID:4595 disease_ontology true central nervous system adult tumor DOID:4596 disease_ontology neoplasm of adult CNS true NCI2004_11_17:C5131 neoplasm of adult CNS deletion of chromosome 3p associated meningioma DOID:4598 disease_ontology true epidermolytic hyperkeratosis Bullous ichthyosiform erythroderma (disorder) DOID:4603 Epidermolytic palmoplantar hyperkeratosis ICD10CM:Q80.3 MSH:D017488 NCI:C62569 OMIM mapping confirmed by DO. [SN]. OMIM:113800 SNOMEDCT_US_2015_03_01:20512000 SNOMEDCT_US_2015_03_01:239071005 SNOMEDCT_US_2015_03_01:254167000 UMLS_CUI:C0079153 bullous congenital ichthyosiform erythroderma disease_ontology Bullous ichthyosiform erythroderma (disorder) SNOMEDCT_2005_07_31:254167000 Epidermolytic palmoplantar hyperkeratosis SNOMEDCT_2005_07_31:239071005 bile duct cancer A biliary tract cancer that is located_in the bile duct. Ca extrahepatic bile ducts DOID:10019 DOID:4606 ICD10CM:C24.0 ICD9CM:156.1 MSH:D001650 NCI:C2898 NCI:C7483 SNOMEDCT_US_2015_03_01:154473009 SNOMEDCT_US_2015_03_01:187787007 SNOMEDCT_US_2015_03_01:363416002 SNOMEDCT_US_2015_03_01:93790004 UMLS_CUI:C0005396 UMLS_CUI:C0153453 bile duct tumor disease_ontology malignant neoplasm of the extrahepatic bile duct NCI2004_11_17:C7483 malignant neoplasm of the extrahepatic bile duct NCI2004_11_17:C2898 bile duct tumor Ca extrahepatic bile ducts SNOMEDCT_2005_07_31:154473009 A biliary tract cancer that is located_in the bile duct. url:http://www.cancer.gov/dictionary/?CdrID=527370 biliary tract cancer A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. DOID:4607 DOID:8092 ICD10CM:C24.9 ICD9CM:156.9 MSH:D001661 SNOMEDCT_US_2015_03_01:126853008 SNOMEDCT_US_2015_03_01:363415003 SNOMEDCT_US_2015_03_01:93688006 UMLS_CUI:C0005426 UMLS_CUI:C0750952 disease_ontology malignant tumour of biliary tract A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. url:http://en.wikipedia.org/wiki/Biliary_tract_cancer SNOMEDCT_2005_07_31:93688006 malignant tumour of biliary tract common bile duct neoplasm DOID:4608 MSH:D003138 SNOMEDCT_US_2015_03_01:126857009 UMLS_CUI:C0009442 disease_ontology neoplasm of common bile duct (disorder) SNOMEDCT_2005_07_31:126857009 neoplasm of common bile duct (disorder) muscle benign neoplasm DOID:2692 DOID:461 MSH:D009379 MSH:D019042 Myomatous neoplasm (morphologic abnormality) Myomatous neoplasm NOS (morphologic abnormality) Myomatous tumor Myomatous tumor (qualifier value) NCI:C4063 SNOMEDCT_US_2015_03_01:115228006 SNOMEDCT_US_2015_03_01:126616000 SNOMEDCT_US_2015_03_01:134329004 SNOMEDCT_US_2015_03_01:189786009 SNOMEDCT_US_2015_03_01:189801005 UMLS_CUI:C0027664 UMLS_CUI:C0282606 disease_ontology muscle neoplasm muscle tissue neoplasm neoplasm of muscle (disorder) Myomatous tumor (qualifier value) SNOMEDCT_2005_07_31:134329004 Myomatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115228006 CSP2005:2011-3484 muscle neoplasm Myomatous tumor NCI2004_11_17:C4063 Myomatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189786009 Myomatous neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189801005 SNOMEDCT_2005_07_31:126616000 neoplasm of muscle (disorder) intestinal benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine. DOID:4610 MSH:D007414 NCI:C3141 SNOMEDCT_US_2015_03_01:126769007 UMLS_CUI:C0021841 disease_ontology intestinal tumors intestine growth neoplasm of intestinal tract NCI2004_11_17:C3141 intestinal tumors A gastrointestinal system benign neoplasm that is located_in the intestine. url:http://en.wikipedia.org/wiki/Benign_tumor CSP2005:2010-1074 intestine growth SNOMEDCT_2005_07_31:126769007 neoplasm of intestinal tract ulnar neuropathy DOID:4613 MSH:D020424 SNOMEDCT_US_2015_03_01:359837005 SNOMEDCT_US_2015_03_01:367399005 SNOMEDCT_US_2015_03_01:394515001 SNOMEDCT_US_2015_03_01:395205004 SNOMEDCT_US_2015_03_01:55802003 UMLS_CUI:C0154743 Ulnar neuropathy Ulnar neuropathy (disorder) Ulnar neuropathy (disorder) [Ambiguous] disease_ontology SNOMEDCT_2005_07_31:359837005 Ulnar neuropathy (disorder) SNOMEDCT_2005_07_31:395205004 Ulnar neuropathy SNOMEDCT_2005_07_31:367399005 Ulnar neuropathy SNOMEDCT_2005_07_31:55802003 Ulnar neuropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:394515001 Ulnar neuropathy carcinoma of unknown primary DOID:4615 carcinoma of unknown primary disease_ontology true NCI2004_11_17:C3812 carcinoma of unknown primary bovine atypical interstitial pneumonia A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. Atypical interstitial pneumonia of cattle (disorder) DOID:4616 Fog fever acute bovine pulmonary emphysema AND edema (disorder) disease_ontology true SNOMEDCT_2005_07_31:20606002 acute bovine pulmonary emphysema AND edema (disorder) A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf Atypical interstitial pneumonia of cattle (disorder) SNOMEDCT_2005_07_31:15341009 periapical granuloma Apical granuloma (disorder) DOID:4617 MSH:D010484 Periapical granuloma SNOMEDCT_US_2015_03_01:196344002 SNOMEDCT_US_2015_03_01:81407003 UMLS_CUI:C0031029 disease_ontology Periapical granuloma SNOMEDCT_2005_07_31:196344002 Apical granuloma (disorder) SNOMEDCT_2005_07_31:81407003 maxillary neoplasm A jaw cancer and maxillary disease that effects the maxilla or upper jaw. DOID:4618 MSH:D008441 SNOMEDCT_US_2015_03_01:126550004 UMLS_CUI:C0024954 disease_ontology maxillary neoplasm upper jaw bone cancer A jaw cancer and maxillary disease that effects the maxilla or upper jaw. url:http://www.vitals.com/disorders/ny-new_york-musculoskeletal_diseases-c05-upper_jaw_bone_cancer_maxillary_neoplasm-8094.html cancer by anatomical entity A cancer that affects an anatomical entity. DOID:462 DOID:8996 disease_ontology malignant neoplasm of aortic body and other paraganglia malignant neoplasm of aortic body and other paraganglia (disorder) true SNOMEDCT_2005_07_31:188343003 malignant neoplasm of aortic body and other paraganglia (disorder) A cancer that affects an anatomical entity. DO:lh holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. DOID:4621 Holoprosencephaly sequence (disorder) ICD10CM:Q04.2 MSH:D016142 NCI:C74988 OMIM:142945 OMIM:142946 OMIM:157170 OMIM:236100 OMIM:605934 OMIM:609408 OMIM:609637 OMIM:610828 OMIM:610829 OMIM:614226 ORDO:2162 SNOMEDCT_US_2015_03_01:30915001 SNOMEDCT_US_2015_03_01:44519006 UMLS_CUI:C0079541 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology Holoprosencephaly sequence (disorder) SNOMEDCT_2005_07_31:30915001 A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. url:http://en.wikipedia.org/wiki/Holoprosencephaly url:http://www.ncbi.nlm.nih.gov/books/NBK1530/ Ollier disease A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. DOID:4624 DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata ICD10CM:Q78.4 Kast's syndrome MSH:D004687 NCI:C3213 OMIM mapping confirmed by DO. [SN]. OMIM:166000 ORDO:296 OSTEOCHONDROMATOSIS SNOMEDCT_US_2015_03_01:205470006 SNOMEDCT_US_2015_03_01:234135008 SNOMEDCT_US_2015_03_01:46041001 UMLS_CUI:C0024454 disease_ontology Kast's syndrome SNOMEDCT_2005_07_31:205470006 A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. url:http://en.wikipedia.org/wiki/Ollier_disease url:http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx Enchondromatosis with haemangiomata SNOMEDCT_2005_07_31:234135008 enchondromatosis DOID:4625 Enchondromatosis (disorder) Ollier disease Ollier's disease disease_ontology true Ollier disease SNOMEDCT_2005_07_31:16535008 Ollier's disease SNOMEDCT_2005_07_31:205469005 NCI2004_11_17:C3008 Ollier's disease Enchondromatosis (disorder) SNOMEDCT_2005_07_31:268274005 MTHICD9_2006:756.4 Ollier's disease hydranencephaly DOID:4626 Hydranencephaly (disorder) ICD10CM:Q04.3 MSH:D006832 NCI:C98949 SNOMEDCT_US_2015_03_01:30023002 UMLS_CUI:C0020225 disease_ontology Hydranencephaly (disorder) SNOMEDCT_2005_07_31:30023002 ideomotor apraxia Classic apraxia (finding) [Ambiguous] DOID:4627 Ideomotor dyspraxia (disorder) Limb-kinetic apraxia (finding) MSH:D020240 SNOMEDCT_US_2015_03_01:229706001 SNOMEDCT_US_2015_03_01:333633007 SNOMEDCT_US_2015_03_01:334621009 SNOMEDCT_US_2015_03_01:39746003 Transcortical apraxia (finding) UMLS_CUI:C0234523 disease_ontology Classic apraxia (finding) [Ambiguous] SNOMEDCT_2005_07_31:39746003 Limb-kinetic apraxia (finding) SNOMEDCT_2005_07_31:334621009 SNOMEDCT_2005_07_31:333633007 Transcortical apraxia (finding) Ideomotor dyspraxia (disorder) SNOMEDCT_2005_07_31:229706001 porcine reproductive and respiratory syndrome A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. DOID:4629 disease_ontology true A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf inverted transitional papilloma DOID:4630 NCI:C4118 SNOMEDCT_US_2015_03_01:46580000 UMLS_CUI:C0334269 disease_ontology transitional papilloma, inverted SNOMEDCT_2005_07_31:46580000 transitional papilloma, inverted inverted papilloma of paranasal sinus DOID:4631 Inverting papilloma of Accessory sinus disease_ontology true Inverting papilloma of Accessory sinus NCI2004_11_17:C8195 nasal cavity inverting papilloma DOID:4633 Inverting papilloma of the nasal cavity NCI:C8194 UMLS_CUI:C0280336 disease_ontology Inverting papilloma of the nasal cavity NCI2004_11_17:C8194 submandibular adenitis DOID:4636 NCI:C27016 SNOMEDCT_US_2015_03_01:15170009 Submandibular Lymphadenitis Submandibular lymphadenitis (disorder) UMLS_CUI:C0235591 disease_ontology SNOMEDCT_2005_07_31:15170009 Submandibular lymphadenitis (disorder) NCI2004_11_17:C27016 Submandibular Lymphadenitis cervical adenitis DOID:4637 NCI:C26937 SNOMEDCT_US_2015_03_01:3502005 UMLS_CUI:C0149642 cervical Lymphadenitis cervical lymphadenitis (disorder) disease_ontology SNOMEDCT_2005_07_31:3502005 cervical lymphadenitis (disorder) NCI2004_11_17:C26937 cervical Lymphadenitis postauricular lymphadenitis DOID:4638 NCI:C27332 UMLS_CUI:C0919638 disease_ontology suppurative lymphadenitis DOID:4639 NCI:C27135 SNOMEDCT_US_2015_03_01:48573006 Suppurative lymphadenopathy (disorder) UMLS_CUI:C0392051 disease_ontology SNOMEDCT_2005_07_31:48573006 Suppurative lymphadenopathy (disorder) axillary adenitis DOID:4640 NCI:C27333 UMLS_CUI:C0919797 disease_ontology Bacteroides infectious disease DOID:4641 disease_ontology true epidermolysis bullosa simplex DOID:4644 Epidermolysis bullosa simplex Epidermolysis bullosa simplex (disorder) ICD10CM:Q81.0 MSH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 SNOMEDCT_US_2015_03_01:205585003 SNOMEDCT_US_2015_03_01:67144006 UMLS_CUI:C0079298 disease_ontology Epidermolysis bullosa simplex (disorder) SNOMEDCT_2005_07_31:67144006 Epidermolysis bullosa simplex SNOMEDCT_2005_07_31:205585003 retinal cancer DOID:4645 DOID:770 ICD10CM:C69.2 ICD9CM:190.5 MSH:D019572 NCI:C3216 NCI:C4800 Retinal tumor SNOMEDCT_US_2015_03_01:127002001 SNOMEDCT_US_2015_03_01:363465007 SNOMEDCT_US_2015_03_01:93987004 UMLS_CUI:C0024622 UMLS_CUI:C0524801 disease_ontology malignant Retinal neoplasm malignant neoplasm of retina malignant tumor of retina (disorder) neoplasm of retina SNOMEDCT_2005_07_31:363465007 malignant tumor of retina (disorder) NCI2004_11_17:C3216 malignant Retinal neoplasm NCI2004_11_17:C4800 Retinal tumor SNOMEDCT_2005_07_31:127002001 neoplasm of retina trilateral retinoblastoma A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. DOID:4647 OMIM mapping confirmed by DO. [LS]. OMIM:180200 disease_ontology A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. url:http://www.ncbi.nlm.nih.gov/pubmed/10391573 familial retinoblastoma DOID:4648 Hereditary Retinoblastoma MSH:D012175 NCI:C8495 UMLS_CUI:C0751483 disease_ontology Hereditary Retinoblastoma NCI2004_11_17:C8495 bilateral retinoblastoma A retinoblastoma that develops in both eyes. DOID:4650 NCI:C8713 UMLS_CUI:C0854914 disease_ontology A retinoblastoma that develops in both eyes. url:http://en.wikipedia.org/wiki/Retinoblastoma unilateral retinoblastoma A retinoblastoma that effects only one eye. DOID:4651 NCI:C8714 UMLS_CUI:C0854915 disease_ontology A retinoblastoma that effects only one eye. url:http://en.wikipedia.org/wiki/Retinoblastoma intraocular retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. DOID:4653 Intraocular Retinoblastoma NCI:C7846 UMLS_CUI:C0278717 disease_ontology A retinoblastoma that is located_in the eye and has not spread to other parts of the body. url:http://www.answers.com/topic/intraocular-retinoblastoma Intraocular Retinoblastoma NCI2004_11_17:C7846 relapsed retinoblastoma DOID:4655 disease_ontology true extraocular retinoblastoma A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. DOID:4656 Extraocular Retinoblastoma NCI:C7848 UMLS_CUI:C0278719 disease_ontology Extraocular Retinoblastoma NCI2004_11_17:C7848 A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 benign mastocytoma DOID:4658 ICD10CM:D47.0 NCI:C9303 SNOMEDCT_US_2015_03_01:134333006 SNOMEDCT_US_2015_03_01:189506005 SNOMEDCT_US_2015_03_01:190020000 SNOMEDCT_US_2015_03_01:404171008 SNOMEDCT_US_2015_03_01:89796001 UMLS_CUI:C0024897 benign Mastocytoma disease_ontology NCI2004_11_17:C3217 benign Mastocytoma extracutaneous mastocytoma DOID:4659 Extracutaneous mastocytoma MSH:D034801 NCI:C7136 SNOMEDCT_US_2015_03_01:63175003 UMLS_CUI:C0272202 disease_ontology Extracutaneous mastocytoma SNOMEDCT_2005_07_31:63175003 indolent systemic mastocytosis DOID:4660 ICD10CM:D47.0 ISM Indolent systemic mastocytosis (disorder) Indolent systemic mastocytosis (morphologic abnormality) MSH:D034721 NCI:C9286 SNOMEDCT_US_2015_03_01:397356009 SNOMEDCT_US_2015_03_01:70910003 UMLS_CUI:C0272203 disease_ontology ISM NCI2004_11_17:C9286 Indolent systemic mastocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:397356009 Indolent systemic mastocytosis (disorder) SNOMEDCT_2005_07_31:70910003 multiple chemical sensitivity 20th century disease A syndrome that is an adverse physical reaction to low levels of many common chemicals. DOID:4661 MSH:D018777 SNOMEDCT_US_2015_03_01:702772003 UMLS_CUI:C0242992 chemical AIDS disease_ontology environmental illness idiopathic environmental illness total allergy syndrome A syndrome that is an adverse physical reaction to low levels of many common chemicals. url:http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity url:http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html thalamic disease DOID:4662 MSH:D013786 NCI:C85186 UMLS_CUI:C0039726 disease_ontology filamentary keratitis DOID:4664 Filamentary keratitis (disorder) ICD10CM:H16.12 ICD9CM:370.23 SNOMEDCT_US_2015_03_01:51286002 UMLS_CUI:C0155077 disease_ontology Filamentary keratitis (disorder) SNOMEDCT_2005_07_31:51286002 superficial keratitis without conjunctivitis DOID:4665 disease_ontology true kyphosis A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. DOID:4667 Kyphosis deformity of spine disease_ontology true A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.mayoclinic.com/health/kyphosis/DS00681 url:http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm congenital kyphosis A kyphosis that results_in abnormal formation located_in body of vertebra. DOID:4668 disease_ontology true A kyphosis that results_in abnormal formation located_in body of vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp urlXX:http://www.wheelessonline.com/ortho/congenital_kyphosis venous hemangioma DOID:467 NCI:C4296 SNOMEDCT_US_2015_03_01:403968005 SNOMEDCT_US_2015_03_01:56468002 UMLS_CUI:C0334532 Venous hemangioma (disorder) Venous hemangioma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:56468002 Venous hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:403968005 Venous hemangioma (disorder) freemartinism DOID:4671 MSH:D005611 UMLS_CUI:C0016697 disease_ontology androgen insensitivity syndrome A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. Androgen resistance syndrome (disorder) Androgen-Insensitivity Syndrome DOID:4672 DOID:4674 Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome ICD10CM:E34.5 ICD10CM:E34.50 ICD10CM:E34.51 ICD9CM:259.5 ICD9CM:259.51 MSH:D013734 NCI:C27226 OMIM mapping confirmed by DO. [SN]. OMIM:300068 SNOMEDCT_US_2015_03_01:12313004 SNOMEDCT_US_2015_03_01:154713003 SNOMEDCT_US_2015_03_01:190562003 SNOMEDCT_US_2015_03_01:237802009 SNOMEDCT_US_2015_03_01:267486007 SNOMEDCT_US_2015_03_01:368851000119102 SNOMEDCT_US_2015_03_01:52832001 UMLS_CUI:C0039585 UMLS_CUI:C0936016 disease_ontology testicular Feminization syndrome testicular feminization testicular feminization (disorder) Goldberg - Maxwell syndrome SNOMEDCT_2005_07_31:190562003 SNOMEDCT_2005_07_31:52832001 testicular feminization (disorder) MTH:NOCODE NCI2004_11_17:C27226 testicular Feminization syndrome Androgen resistance syndrome (disorder) SNOMEDCT_2005_07_31:12313004 CSP2005:2586-8897 testicular feminization A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. url:http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/ url:http://www.omim.org/entry/300068?search=300068&highlight=300068 Feminisation - testicular SNOMEDCT_2005_07_31:154713003 SNOMEDCT_2005_07_31:267486007 Goldberg-Maxwell syndrome SNOMEDCT_2005_07_31:237802009 uremic neuropathy DOID:4675 NCI:C27055 SNOMEDCT_US_2015_03_01:11659006 UMLS_CUI:C0268708 Uremic Neuropathy Uremic neuropathy (disorder) disease_ontology NCI2004_11_17:C27055 Uremic Neuropathy SNOMEDCT_2005_07_31:11659006 Uremic neuropathy (disorder) uremia DOID:4676 ICD10CM:N19 MSH:D014511 SNOMEDCT_US_2015_03_01:197656003 SNOMEDCT_US_2015_03_01:266616000 SNOMEDCT_US_2015_03_01:44730006 UMLS_CUI:C0041948 UREMIA OF renal ORIGIN disease_ontology MTH:NOCODE UREMIA OF renal ORIGIN keratitis DOID:4677 ICD10CM:H16 ICD10CM:H16.9 ICD9CM:370 ICD9CM:370.9 MSH:D007634 NCI:C26805 SNOMEDCT_US_2015_03_01:155151002 SNOMEDCT_US_2015_03_01:155155006 SNOMEDCT_US_2015_03_01:193757003 SNOMEDCT_US_2015_03_01:193793001 SNOMEDCT_US_2015_03_01:267730006 SNOMEDCT_US_2015_03_01:5888003 UMLS_CUI:C0022568 disease_ontology thymus mucoepidermoid carcinoma DOID:4678 Mucoepidermoid carcinoma of the Thymus NCI:C6457 UMLS_CUI:C1334814 disease_ontology Mucoepidermoid carcinoma of the Thymus NCI2004_11_17:C6457 breast mucoepidermoid carcinoma DOID:4679 Mucoepidermoid carcinoma of the breast NCI:C5166 UMLS_CUI:C1334813 disease_ontology mucoepidermoid carcinoma of breast Mucoepidermoid carcinoma of the breast NCI2004_11_17:C5166 intramuscular hemangioma DOID:468 Intramuscular Angioma Intramuscular hemangioma (morphologic abnormality) MSH:D006391 NCI:C3699 SNOMEDCT_US_2015_03_01:54249004 UMLS_CUI:C0205789 disease_ontology Intramuscular Angioma NCI2004_11_17:C3699 Intramuscular hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:54249004 breast metaplastic carcinoma DOID:4680 Metaplastic carcinoma of the breast NCI:C5164 UMLS_CUI:C1334708 disease_ontology metaplastic carcinoma of breast Metaplastic carcinoma of the breast NCI2004_11_17:C5164 bile duct mucoepidermoid carcinoma DOID:4681 Mucoepidermoid carcinoma of the bile duct NCI:C5862 UMLS_CUI:C1332552 disease_ontology Mucoepidermoid carcinoma of the bile duct NCI2004_11_17:C5862 extrahepatic bile duct carcinoma DOID:4682 NCI:C3860 SNOMEDCT_US_2015_03_01:254603004 SNOMEDCT_US_2015_03_01:269551004 SNOMEDCT_US_2015_03_01:372101000 SNOMEDCT_US_2015_03_01:93790004 UMLS_CUI:C0238019 carcinoma of extrahepatic bile duct (disorder) disease_ontology extrahepatic bile duct cancer NCI2004_11_17:C3860 extrahepatic bile duct cancer SNOMEDCT_2005_07_31:372101000 carcinoma of extrahepatic bile duct (disorder) cutaneous mucoepidermoid carcinoma DOID:4683 Mucoepidermoid carcinoma of skin (disorder) Mucoepidermoid skin carcinoma NCI:C4472 SNOMEDCT_US_2015_03_01:254713002 UMLS_CUI:C0346019 disease_ontology Mucoepidermoid carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254713002 Mucoepidermoid skin carcinoma NCI2004_11_17:C4472 skin appendage carcinoma DOID:4684 carcinoma of adnexa disease_ontology skin appendage carcinoma (morphologic abnormality) true SNOMEDCT_2005_07_31:64000002 skin appendage carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:189661009 skin appendage carcinoma (morphologic abnormality) NCI2004_11_17:C3775 carcinoma of adnexa lacrimal gland mucoepidermoid carcinoma DOID:4685 Mucoepidermoid carcinoma of the lacrimal gland NCI:C6091 UMLS_CUI:C1334359 disease_ontology Mucoepidermoid carcinoma of the lacrimal gland NCI2004_11_17:C6091 mucoepidermoid esophageal carcinoma DOID:4686 Mucoepidermoid carcinoma of the esophagus NCI:C5343 UMLS_CUI:C1333461 disease_ontology Mucoepidermoid carcinoma of the esophagus NCI2004_11_17:C5343 mucoepidermoid thyroid carcinoma DOID:4687 NCI:C38762 UMLS_CUI:C1513721 disease_ontology laryngeal mucoepidermoid carcinoma DOID:4688 Mucoepidermoid carcinoma of Larynx NCI:C9463 UMLS_CUI:C1334373 disease_ontology Mucoepidermoid carcinoma of Larynx NCI2004_11_17:C9463 deep angioma DOID:469 NCI:C6555 UMLS_CUI:C1333265 disease_ontology childhood mediastinal neurogenic tumor DOID:4690 NCI:C5429 UMLS_CUI:C1332981 disease_ontology pediatric neurogenic tumor of mediastinum NCI2004_11_17:C5429 pediatric neurogenic tumor of mediastinum malignant mediastinal neurogenic neoplasm A mediastinal cancer that has_material_basis_in neural cells. DOID:4691 NCI:C6624 UMLS_CUI:C1334672 disease_ontology neurogenic tumor of mediastinum A mediastinal cancer that has_material_basis_in neural cells. url:http://www.ncbi.nlm.nih.gov/pubmed/11154721 NCI2004_11_17:C6624 neurogenic tumor of mediastinum endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye. DOID:4692 MSH:D009877 NCI:C34586 SNOMEDCT_US_2015_03_01:123052006 SNOMEDCT_US_2015_03_01:128295000 SNOMEDCT_US_2015_03_01:1847009 SNOMEDCT_US_2015_03_01:82255004 UMLS_CUI:C0014236 disease_ontology A globe disease that is characterized by inflammation of the inside of the eye. url:://www.merck.com/mmhe/sec20/ch234/ch234i.html url:http://en.wikipedia.org/wiki/Endophthalmitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis nerve plexus neoplasm DOID:4693 NCI:C5822 UMLS_CUI:C1334945 disease_ontology neural Plexus tumors NCI2004_11_17:C5822 neural Plexus tumors malignant peripheral nerve neoplasm DOID:4694 disease_ontology malignant tumor of PNS malignant tumor of peripheral nerve (disorder) true SNOMEDCT_2005_07_31:254986007 malignant tumor of peripheral nerve (disorder) NCI2004_11_17:C4961 malignant tumor of PNS intraneural perineurioma DOID:4696 Intraneural Perineurioma NCI:C6911 SNOMEDCT_US_2015_03_01:128795001 UMLS_CUI:C1370658 disease_ontology Intraneural Perineurioma NCI2004_11_17:C6911 perineurioma DOID:4697 DOID:8371 MSH:D018317 NCI:C4973 NCI:C6912 SNOMEDCT_US_2015_03_01:128795001 SNOMEDCT_US_2015_03_01:404036006 UMLS_CUI:C0751691 UMLS_CUI:C1370657 disease_ontology perineurioma (disorder) perineurioma (morphologic abnormality) soft tissue Perineurioma soft tissue perineurioma NCI2004_11_17:C6912 soft tissue Perineurioma SNOMEDCT_2005_07_31:128795001 perineurioma (morphologic abnormality) SNOMEDCT_2005_07_31:404036006 perineurioma (disorder) nerve root neoplasm DOID:4698 NCI:C5119 UMLS_CUI:C1334946 disease_ontology tumor of nerve Root NCI2004_11_17:C5119 tumor of nerve Root epicardium cancer DOID:14537 DOID:4699 Epicardial tumor NCI2009_04D:C5347 NCI:C5347 SNOMEDCT_US_2015_03_01:126733004 SNOMEDCT_US_2015_03_01:93782004 UMLS_CUI:C0346610 UMLS_CUI:C1290403 disease_ontology malignant Epicardial tumor malignant neoplasm of epicardium Epicardial tumor NCI2004_11_17:C5347 NCI2004_11_17:C4568 malignant Epicardial tumor prostate disease DOID:47 ICD10CM:N42.9 ICD9CM:602.9 MSH:D011469 NCI:C26865 SNOMEDCT_US_2015_03_01:197979000 SNOMEDCT_US_2015_03_01:30281009 UMLS_CUI:C0033575 disease_ontology verrucous keratotic hemangioma DOID:470 NCI:C4299 SNOMEDCT_US_2015_03_01:20985003 UMLS_CUI:C0334540 disease_ontology verrucous keratotic hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:20985003 verrucous keratotic hemangioma (morphologic abnormality) bathing trunk nevus Congenital giant pigmented nevus of skin (disorder) DOID:4700 Giant Pigmented nevus of the skin Intermediate and giant congenital naevus disease_ontology true Intermediate and giant congenital naevus SNOMEDCT_2005_07_31:10291008 Congenital giant pigmented nevus of skin (disorder) SNOMEDCT_2005_07_31:254815002 Giant Pigmented nevus of the skin NCI2004_11_17:C4234 mongolian spot DOID:4702 Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS] MSH:D049328 Mongolian Macula Mongolian spot (disorder) NCI:C3945 SNOMEDCT_US_2015_03_01:157017000 SNOMEDCT_US_2015_03_01:268355000 SNOMEDCT_US_2015_03_01:40467008 UMLS_CUI:C0265985 disease_ontology Mongolian Macula NCI2004_11_17:C3945 Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS] SNOMEDCT_2005_07_31:268355000 Mongolian spot (disorder) SNOMEDCT_2005_07_31:40467008 Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS] SNOMEDCT_2005_07_31:157017000 childhood brain tumor DOID:4705 disease_ontology pediatric neoplasm of brain true NCI2004_11_17:C7703 pediatric neoplasm of brain infratentorial cancer A brain cancer that is located_in the infratentorial region. DOID:4706 DOID:4789 ICD10CM:C71.7 MSH:D015192 NCI:C3139 NCI:C4966 UMLS_CUI:C0021432 UMLS_CUI:C0751593 brain neoplasm, Infratentorial disease_ontology malignant Infratentorial tumors A brain cancer that is located_in the infratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli url:http://www.ncbi.nlm.nih.gov/mesh/68015192 NCI2004_11_17:C3139 brain neoplasm, Infratentorial NCI2004_11_17:C4966 malignant Infratentorial tumors cervicomedullary junction neoplasm DOID:4707 NCI:C5423 UMLS_CUI:C1332923 disease_ontology tumor of the Cervicomedullary Junction NCI2004_11_17:C5423 tumor of the Cervicomedullary Junction foramen magnum meningioma DOID:4708 NCI:C5280 UMLS_CUI:C1333630 disease_ontology meningioma of the Foramen Magnum NCI2004_11_17:C5280 meningioma of the Foramen Magnum skin hemangioma Angioma of the skin Angiomatous naevus of skin DOID:471 NCI:C4905 SNOMEDCT_US_2015_03_01:189195009 SNOMEDCT_US_2015_03_01:254773009 SNOMEDCT_US_2015_03_01:93471006 UMLS_CUI:C0687140 disease_ontology hemangioma of skin (disorder) Angiomatous naevus of skin SNOMEDCT_2005_07_31:254773009 Angioma of the skin NCI2004_11_17:C4905 SNOMEDCT_2005_07_31:93471006 hemangioma of skin (disorder) krebs 2 carcinoma DOID:4711 disease_ontology true gastric mesenchymal neoplasm DOID:4712 disease_ontology mesenchymal tumor of stomach true NCI2004_11_17:C5487 mesenchymal tumor of stomach obstetrical pelvic hematoma DOID:12829 DOID:4714 disease_ontology postpartum pelvic hematoma true gastric neuroendocrine neoplasm DOID:4715 NCI:C5696 UMLS_CUI:C1333783 disease_ontology neuroendocrine tumor of the stomach NCI2004_11_17:C5696 neuroendocrine tumor of the stomach malignant gastric germ cell tumor DOID:4716 NCI:C6448 UMLS_CUI:C1333769 disease_ontology germ cell tumor of the stomach NCI2004_11_17:C6448 germ cell tumor of the stomach extragonadal germ cell cancer A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. DOID:4717 DOID:5839 NCI:C3918 NCI:C8881 UMLS_CUI:C0262963 UMLS_CUI:C1334581 disease_ontology extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell tumor of extragonadal germ cell A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. url:http://tcrc.acor.org/egc.html url:http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell NCI2004_11_17:C3918 neoplasm of Extragonadal germ cell bone giant cell sarcoma A malignant giant cell tumor that is composed_of multinucleated giant cells. DOID:4719 Giant cell sarcoma of the bone Giant cell tumor of bone, malignant (morphologic abnormality) NCI:C4304 SNOMEDCT_US_2015_03_01:10069009 UMLS_CUI:C0334552 disease_ontology Giant cell tumor of bone, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:10069009 Giant cell sarcoma of the bone NCI2004_11_17:C4304 A malignant giant cell tumor that is composed_of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone subglottic angioma DOID:472 NCI:C6026 UMLS_CUI:C1336518 disease_ontology hemangioma of the Subglottis NCI2004_11_17:C6026 hemangioma of the Subglottis intracranial hypotension DOID:4723 MSH:D019585 SNOMEDCT_US_2015_03_01:433691000124104 UMLS_CUI:C0524812 disease_ontology brain edema DOID:4724 MSH:D001929 SNOMEDCT_US_2015_03_01:2032001 SNOMEDCT_US_2015_03_01:85974009 UMLS_CUI:C1527311 disease_ontology intracranial swelling wet brain CSP2005:0485-0998 wet brain SNOMEDCT_2005_07_31:2032001 intracranial swelling SNOMEDCT_2005_07_31:85974009 intracranial swelling neck neoplasm DOID:4725 disease_ontology neck neoplasm neck neoplasm (Including All Pharyngeal Related neoplasm) neoplasm of neck (disorder) true NCI2004_11_17:C3260 neck neoplasm (Including All Pharyngeal Related neoplasm) CSP2005:2005-4325 neck neoplasm SNOMEDCT_2005_07_31:126635000 neoplasm of neck (disorder) Anterior synechiae Anterior synechiae (disorder) Anterior synechiae of iris DOID:4726 disease_ontology true Anterior synechiae of iris ICD9CM_2006:364.72 Anterior synechiae (disorder) SNOMEDCT_2005_07_31:70992005 adhesions of iris DOID:4727 Synechia (iris) Synechiae NOS Unspecified adhesions of iris (disorder) adhesions of iris (disorder) adhesions of iris, unspecified disease_ontology true ICD9CM_2006:364.70 adhesions of iris, unspecified SNOMEDCT_2005_07_31:78778007 adhesions of iris (disorder) SNOMEDCT_2005_07_31:193518008 Unspecified adhesions of iris (disorder) SNOMEDCT_2005_07_31:267720002 Synechia (iris) MTHICD9_2006:364.70 Synechiae NOS vasomotor rhinitis A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. DOID:4730 ICD10CM:J30.0 MSH:D012223 NCI:C34988 SNOMEDCT_US_2015_03_01:155537009 SNOMEDCT_US_2015_03_01:266386004 SNOMEDCT_US_2015_03_01:8229003 UMLS_CUI:C0035460 Vasomotor Rhinitis Vasomotor rhinitis Vasomotor rhinitis (disorder) disease_ontology A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. url:http://en.wikipedia.org/wiki/Rhinitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis SNOMEDCT_2005_07_31:266386004 Vasomotor rhinitis SNOMEDCT_2005_07_31:155537009 Vasomotor rhinitis NCI2004_11_17:C34988 Vasomotor Rhinitis SNOMEDCT_2005_07_31:8229003 Vasomotor rhinitis (disorder) atrophic rhinitis A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. DOID:4731 MSH:D012222 Ozaena Rhinitis, atrophic SNOMEDCT_US_2015_03_01:28111002 UMLS_CUI:C0035459 atrophic rhinitis (disorder) disease_ontology dry rhinitis ozena rhinitis sicca A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. url:http://en.wikipedia.org/wiki/atrophic_rhinitis url:http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf MTHICD9_2006:472.0 Rhinitis, atrophic SNOMEDCT_2005_07_31:28111002 atrophic rhinitis (disorder) calciphylaxis Calciphylaxis (disorder) DOID:4734 MSH:D002115 NCI:C84607 SNOMEDCT_US_2015_03_01:237900002 UMLS_CUI:C0006666 disease_ontology Calciphylaxis (disorder) SNOMEDCT_2005_07_31:237900002 somatoform disorder A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. DOID:10133 DOID:144 DOID:4737 ICD10CM:F45 ICD10CM:F45.0 ICD10CM:F45.9 ICD9CM:300.8 ICD9CM:300.81 ICD9CM:306.8 MSH:D013001 NCI:C34956 SNOMEDCT_US_2015_03_01:154892001 SNOMEDCT_US_2015_03_01:191743005 SNOMEDCT_US_2015_03_01:192035008 SNOMEDCT_US_2015_03_01:192430009 SNOMEDCT_US_2015_03_01:192431008 SNOMEDCT_US_2015_03_01:192437007 SNOMEDCT_US_2015_03_01:31297008 SNOMEDCT_US_2015_03_01:397795007 SNOMEDCT_US_2015_03_01:397826007 SNOMEDCT_US_2015_03_01:397923000 SNOMEDCT_US_2015_03_01:60368009 SNOMEDCT_US_2015_03_01:9514005 UMLS_CUI:C0029824 UMLS_CUI:C0037650 UMLS_CUI:C0520482 disease_ontology physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder CSP2005:2482-7019 psychosomatic disorder A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. url:http://allpsych.com/disorders/somatoform/index.html url:http://en.wikipedia.org/wiki/Somatoform_disorder Iris or ciliary body disorder DOID:4738 disease_ontology true testicular Brenner tumor DOID:4739 NCI:C39953 UMLS_CUI:C1515281 disease_ontology histiocytoid hemangioma Angiolymphoid hyperplasia with eosinophilia (disorder) DOID:474 MSH:D006391 NCI:C4298 SNOMEDCT_US_2015_03_01:125574005 SNOMEDCT_US_2015_03_01:189869009 SNOMEDCT_US_2015_03_01:189870005 SNOMEDCT_US_2015_03_01:253054009 SNOMEDCT_US_2015_03_01:33929001 SNOMEDCT_US_2015_03_01:69159005 UMLS_CUI:C0205788 disease_ontology epithelioid haemangioma epithelioid hemangioma epithelioid hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:189869009 epithelioid haemangioma SNOMEDCT_2005_07_31:33929001 epithelioid hemangioma (morphologic abnormality) Angiolymphoid hyperplasia with eosinophilia (disorder) SNOMEDCT_2005_07_31:125574005 NCI2004_11_17:C4298 epithelioid hemangioma mixed embryonal carcinoma and teratoma of the testis DOID:4742 disease_ontology mixed Embryonal carcinoma and teratoma of testis true NCI2004_11_17:C6351 mixed Embryonal carcinoma and teratoma of testis mixed testicular germ cell tumor A mixed germ cell cancer that is located_in the testis. DOID:4743 NCI:C6347 UMLS_CUI:C1336720 disease_ontology mixed germ cell tumor of testis A mixed germ cell cancer that is located_in the testis. url:http://en.wikipedia.org/wiki/Germ_cell_tumor NCI2004_11_17:C6347 mixed germ cell tumor of testis placenta accreta A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. DOID:4744 ICD10CM:O43.21 MSH:D010921 NCI:C26856 SNOMEDCT_US_2015_03_01:70129008 UMLS_CUI:C0032044 disease_ontology A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. url:http://en.wikipedia.org/wiki/Placenta_accreta olfaction disorder DOID:4746 disease_ontology disorder of smell (disorder) true SNOMEDCT_2005_07_31:275462005 disorder of smell (disorder) childhood supratentorial neoplasm DOID:4748 disease_ontology pediatric Supratentorial tumor true NCI2004_11_17:C5960 pediatric Supratentorial tumor middle cranial fossa meningioma DOID:4749 NCI:C5586 UMLS_CUI:C1334757 disease_ontology meningioma of the middle Cranial Fossa NCI2004_11_17:C5586 meningioma of the middle Cranial Fossa striatonigral degeneration DOID:4751 ICD10CM:G23.2 MSH:D020955 OMIM mapping confirmed by DO. [LS]. OMIM:271930 OMIM:500003 OMIM:609161 SNOMEDCT_US_2015_03_01:29618004 UMLS_CUI:C0270733 disease_ontology multiple system atrophy DOID:11510 DOID:4752 MSH:D012791 MSH:D019578 Multiple system atrophy (disorder) NCI:C84909 NCI:C85066 OMIM mapping confirmed by DO. [LS]. OMIM:146500 SNOMEDCT_US_2015_03_01:16576004 SNOMEDCT_US_2015_03_01:230297002 Shy-Drager syndrome UMLS_CUI:C0037019 UMLS_CUI:C0393571 disease_ontology Multiple system atrophy (disorder) SNOMEDCT_2005_07_31:230297002 Dictyocaulus infectious disease A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. DOID:4754 Infection by Dictyocaulus (disorder) disease_ontology true Infection by Dictyocaulus (disorder) SNOMEDCT_2005_07_31:28713008 A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. url:http://en.wikipedia.org/wiki/Dictyocaulus testicular Leydig cell tumor DOID:4756 NCI:C6356 UMLS_CUI:C0863027 disease_ontology testicular Leydig cell neoplasm NCI2004_11_17:C6356 testicular Leydig cell neoplasm sex cord-stromal neoplasm DOID:4757 NCI:C6358 SNOMEDCT_US_2015_03_01:702406000 Sex Cord-Stromal tumor of testis UMLS_CUI:C3840076 disease_ontology NCI2004_11_17:C6358 Sex Cord-Stromal tumor of testis peripheral anterior synechiae DOID:4758 Goniosynechiae Goniosynechiae (disorder) disease_ontology peripheral anterior synechiae (disorder) true Goniosynechiae ICD9CM_2006:364.73 Goniosynechiae (disorder) SNOMEDCT_2005_07_31:71902007 Goniosynechiae SNOMEDCT_2005_07_31:193519000 SNOMEDCT_2005_07_31:247034002 peripheral anterior synechiae (disorder) breast hemangioma Angioma of the breast DOID:476 NCI:C5353 UMLS_CUI:C0853715 disease_ontology hemangioma of breast Angioma of the breast NCI2004_11_17:C5353 malignant catarrh A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. DOID:4760 Gangrenous Coryza Snotsiekte disease_ontology malignant catarrhal fever true A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf vasculogenic impotence DOID:4762 MSH:D018783 UMLS_CUI:C0243000 disease_ontology pulmonary blastoma An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. Blastoma of lung DOID:4765 MSH:D018202 NCI:C3732 SNOMEDCT_US_2015_03_01:189815007 SNOMEDCT_US_2015_03_01:43149009 UMLS_CUI:C0206629 disease_ontology Blastoma of lung NCI2004_11_17:C3732 An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. url:http://www.cancer.gov/dictionary/?CdrID=446557 embryoma A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. Blastoma, NOS DOID:4766 NCI:C8997 SNOMEDCT_US_2015_03_01:86049000 UMLS_CUI:C0936282 disease_ontology A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. url:http://en.wikipedia.org/wiki/Embryoma Blastoma, NOS SNOMEDCT_2005_07_31:86049000 classic pulmonary blastoma DOID:4767 NCI:C36054 UMLS_CUI:C1332556 disease_ontology epithelial predominant pulmonary blastoma DOID:4768 NCI:C36053 UMLS_CUI:C1333420 disease_ontology pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. DOID:4769 MSH:C537516 NCI:C5669 OMIM mapping confirmed by DO. [SN]. OMIM:601200 Pleuropulmonary blastoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128763002 SNOMEDCT_US_2015_03_01:707670009 UMLS_CUI:C1266144 disease_ontology A pulmonary blastoma that derives_from the lung or pleural cavity. url:http://do-wiki.nubic.northwestern.edu/index.php/Relations_in_DO Pleuropulmonary blastoma (morphologic abnormality) SNOMEDCT_2005_07_31:128763002 mesoblastic nephroma A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. DOID:4772 MSH:D018201 Mesoblastic Nephroma Mesoblastic nephroma (disorder) Mesoblastic nephroma (morphologic abnormality) SNOMEDCT_US_2015_03_01:11793003 SNOMEDCT_US_2015_03_01:307604008 UMLS_CUI:C0206628 disease_ontology Mesoblastic Nephroma NCI2004_11_17:C3731 Mesoblastic nephroma (disorder) SNOMEDCT_2005_07_31:307604008 A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. url:http://en.wikipedia.org/wiki/Mesoblastic_nephroma Mesoblastic nephroma (morphologic abnormality) SNOMEDCT_2005_07_31:11793003 congenital mesoblastic nephroma DOID:4773 MSH:D018201 NCI:C6569 UMLS_CUI:C1332965 disease_ontology feline acquired immunodeficiency syndrome A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. DOID:4775 disease_ontology true A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. url:http://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission url:http://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html rapidly progressive glomerulonephritis DOID:4776 ICD10CM:N01 NCI:C35264 Rapidly progressive Glomerulonephritis Rapidly progressive glomerulonephritis (disorder) SNOMEDCT_US_2015_03_01:236392004 SNOMEDCT_US_2015_03_01:45406000 UMLS_CUI:C0221239 disease_ontology Rapidly progressive glomerulonephritis (disorder) SNOMEDCT_2005_07_31:236392004 NCI2004_11_17:C35264 Rapidly progressive Glomerulonephritis exudative glomerulonephritis DOID:4777 NCI:C35706 UMLS_CUI:C0546345 disease_ontology proliferative glomerulonephritis DOID:4778 NCI:C35281 Proliferative Glomerulonephritis SNOMEDCT_US_2015_03_01:441815006 UMLS_CUI:C0235618 disease_ontology NCI2004_11_17:C35281 Proliferative Glomerulonephritis focal embolic glomerulonephritis DOID:4779 NCI:C35707 UMLS_CUI:C0238143 disease_ontology breast vascular neoplasm DOID:478 disease_ontology true vascular tumor of breast NCI2004_11_17:C5209 vascular tumor of breast anti-basement membrane glomerulonephritis DOID:4780 NCI:C35798 UMLS_CUI:C1332309 disease_ontology diffuse glomerulonephritis DOID:4781 NCI:C35799 UMLS_CUI:C0859036 disease_ontology subacute glomerulonephritis DOID:4782 NCI:C35801 SNOMEDCT_US_2015_03_01:123609007 Subacute Glomerulonephritis Subacute glomerulonephritis (disorder) UMLS_CUI:C1263744 disease_ontology NCI2004_11_17:C35801 Subacute Glomerulonephritis SNOMEDCT_2005_07_31:123609007 Subacute glomerulonephritis (disorder) mesangial proliferative glomerulonephritis DOID:4783 Mesangial proliferative glomerulonephritis (disorder) NCI:C35445 SNOMEDCT_US_2015_03_01:35546006 UMLS_CUI:C0221238 disease_ontology Mesangial proliferative glomerulonephritis (disorder) SNOMEDCT_2005_07_31:35546006 immune-complex glomerulonephritis DOID:4784 Immune Complex Glomerulonephritis Immune-complex glomerulonephritis (disorder) NCI:C35800 SNOMEDCT_US_2015_03_01:123752003 UMLS_CUI:C0744421 disease_ontology Immune Complex Glomerulonephritis NCI2004_11_17:C35800 Immune-complex glomerulonephritis (disorder) SNOMEDCT_2005_07_31:123752003 primitive neuroectodermal tumor with Leptomeningeal Spread DOID:4786 disease_ontology true cerebellopontine angle primitive neuroectodermal Cerebellopontine Angle PNET DOID:4787 NCI:C5436 UMLS_CUI:C1332904 disease_ontology Cerebellopontine Angle PNET NCI2004_11_17:C5436 intracranial primitive neuroectodermal tumor DOID:4788 NCI:C5817 UMLS_CUI:C1334246 disease_ontology intracranial PNET NCI2004_11_17:C5817 intracranial PNET angiokeratoma Angiokeratoma (morphologic abnormality) Angiokeratoma of skin (disorder) CSP:2007-0683 Cutaneous Angiokeratoma DOID:479 DOID:665 MSH:D000794 NCI:C2874 NCI:C4488 SNOMEDCT_US_2015_03_01:254788004 SNOMEDCT_US_2015_03_01:26810009 UMLS_CUI:C0002985 UMLS_CUI:C0346075 disease_ontology skin angiokeratoma Cutaneous Angiokeratoma NCI2004_11_17:C4488 Angiokeratoma (morphologic abnormality) SNOMEDCT_2005_07_31:26810009 Angiokeratoma of skin (disorder) SNOMEDCT_2005_07_31:254788004 medulloepithelioma DOID:4790 Diktyoma, malignant MSH:D018242 Medulloepithelioma NOS (morphologic abnormality) Medulloepithelioma, central nervous system NCI:C4327 NCI:C66808 SNOMEDCT_US_2015_03_01:189932005 SNOMEDCT_US_2015_03_01:39005004 UMLS_CUI:C0334596 disease_ontology Diktyoma, malignant SNOMEDCT_2005_07_31:39005004 Medulloepithelioma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189932005 Medulloepithelioma, central nervous system NCI2004_11_17:C4327 supratentorial primitive neuroectodermal tumor DOID:4791 NCI:C6968 SNOMEDCT_US_2015_03_01:39781001 SNOMEDCT_US_2015_03_01:699318007 Supratentorial PNET UMLS_CUI:C1336538 disease_ontology SNOMEDCT_2005_07_31:39781001 Supratentorial PNET ependymoblastoma DOID:4794 MSH:D018242 NCI:C4915 SNOMEDCT_US_2015_03_01:21589007 SNOMEDCT_US_2015_03_01:253070006 UMLS_CUI:C0700367 disease_ontology Tay-Sachs disease AB variant DOID:4795 MSH:D049290 OMIM mapping confirmed by DO. [SN]. OMIM:272750 SNOMEDCT_US_2015_03_01:71253000 Tay-Sachs disease, variant AB (disorder) UMLS_CUI:C0268275 disease_ontology SNOMEDCT_2005_07_31:71253000 Tay-Sachs disease, variant AB (disorder) space motion sickness DOID:4796 MSH:D018489 SNOMEDCT_US_2015_03_01:21162009 UMLS_CUI:C0242700 disease_ontology SM-AHNMD DOID:4797 NCI:C9284 SNOMEDCT_US_2015_03_01:397015000 SNOMEDCT_US_2015_03_01:397357000 UMLS_CUI:C1301365 disease_ontology systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) SNOMEDCT_2005_07_31:397015000 systemic mastocytosis with associated clonal haematological non-mast cell lineage disease SNOMEDCT_2005_07_31:397357000 systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) aggressive systemic mastocytosis ASM Aggressive systemic mastocytosis (morphologic abnormality) DOID:4798 ICD10CM:C96.2 Lymphadenopathic mastocytosis with eosinophilia MSH:D034721 NCI:C9285 SNOMEDCT_US_2015_03_01:397008008 SNOMEDCT_US_2015_03_01:397358005 UMLS_CUI:C1112486 disease_ontology Aggressive systemic mastocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:397358005 Lymphadenopathic mastocytosis with eosinophilia SNOMEDCT_2005_07_31:397008008 ASM NCI2004_11_17:C9285 AIDS-related idiopathic thrombocytopenic purpura DOID:4799 disease_ontology true male reproductive system disease A reproductive system disease that affects male reproductive organs. DOID:48 ICD10CM:N50.9 ICD9CM:600-608.99 ICD9CM:608.9 MSH:D005832 SNOMEDCT_US_2015_03_01:155905004 SNOMEDCT_US_2015_03_01:155933004 SNOMEDCT_US_2015_03_01:155945008 SNOMEDCT_US_2015_03_01:198089001 SNOMEDCT_US_2015_03_01:198553004 SNOMEDCT_US_2015_03_01:64557000 UMLS_CUI:C0017412 disease_ontology A reproductive system disease that affects male reproductive organs. url:https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/ movement disease DOID:480 MSH:D009069 SNOMEDCT_US_2015_03_01:60342002 UMLS_CUI:C0026650 disease_ontology iris vascular disorder DOID:4800 disease_ontology true border disease A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. DOID:4804 disease_ontology hairy shaker disease true A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. url:http://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf swine vesicular disease An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. DOID:4807 disease_ontology true An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. url:http://en.wikipedia.org/wiki/Swine_vesicular_disease Enterovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. DOID:4808 disease_ontology true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. url:http://www.idph.state.il.us/public/hb/hbentero.htm enzootic porcine encephalomyelitis A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. DOID:4809 Poliomyelitis Suum Porcine polioencephalomyelitis Talfan disease Teschen disease disease_ontology true A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf central nervous system hereditary degenerative disease DOID:481 SNOMEDCT_US_2015_03_01:192838009 SNOMEDCT_US_2015_03_01:192842007 UMLS_CUI:C0014887 disease_ontology cerebrotendinous xanthomatosis A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. Cholestanol storage disease (disorder) DOID:4810 MSH:D019294 NCI:C84628 OMIM mapping confirmed by DO. [SN]. OMIM:213700 SNOMEDCT_US_2015_03_01:63246000 UMLS_CUI:C0238052 disease_ontology Cholestanol storage disease (disorder) SNOMEDCT_2005_07_31:63246000 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://rarediseasesnetwork.epi.usf.edu/stair/ctx/ url:http://www.ncbi.nlm.nih.gov/books/NBK1409/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 adult brainstem gliosarcoma DOID:4812 NCI:C9370 UMLS_CUI:C1377914 adult brain stem Gliosarcoma disease_ontology NCI2004_11_17:C9370 adult brain stem Gliosarcoma adult brain stem glioma DOID:4813 NCI:C9091 UMLS_CUI:C0278873 adult Brainstem Neuroglial tumor disease_ontology NCI2004_11_17:C9091 adult Brainstem Neuroglial tumor ganglioneuroma of the retroperitoneum DOID:4814 Ganglioneuroma of Retroperitoneum disease_ontology true Ganglioneuroma of Retroperitoneum NCI2004_11_17:C5427 maturing ganglioneuroma DOID:4816 disease_ontology true ganglioneuroma DOID:4817 NCI:C42065 UMLS_CUI:C1513025 disease_ontology lung occult non-small cell carcinoma DOID:4818 Occult Non-small cell carcinoma of the lung disease_ontology occult non-small cell carcinoma of lung true NCI2004_11_17:C9038 Occult Non-small cell carcinoma of the lung lung occult carcinoma DOID:4819 Occult carcinoma of the lung disease_ontology occult carcinoma of lung true NCI2004_11_17:C5641 Occult carcinoma of the lung hemangioma of peripheral nerve DOID:482 NCI:C27507 UMLS_CUI:C1333956 disease_ontology metastatic lung carcinoma DOID:4828 Unspecified stage IV carcinoma of lung disease_ontology true NCI2004_11_17:C8774 Unspecified stage IV carcinoma of lung adenosquamous cell lung carcinoma Adenosquamous lung carcinoma DOID:4829 NCI:C9133 UMLS_CUI:C0279557 disease_ontology Adenosquamous lung carcinoma NCI2004_11_17:C9133 cavernous hemangioma Cavernoma Cavernous haemangioma (disorder) Cavernous hemangioma (morphologic abnormality) DOID:483 ICD10CM:D18.0 MSH:D006392 NCI:C3086 SNOMEDCT_US_2015_03_01:157014007 SNOMEDCT_US_2015_03_01:189192007 SNOMEDCT_US_2015_03_01:254781005 SNOMEDCT_US_2015_03_01:33377007 SNOMEDCT_US_2015_03_01:416824008 SNOMEDCT_US_2015_03_01:56975005 SNOMEDCT_US_2015_03_01:67668002 UMLS_CUI:C0018920 disease_ontology Cavernous haemangioma (disorder) SNOMEDCT_2005_07_31:416824008 Cavernous hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:33377007 Cavernoma NCI2004_11_17:C3086 adenosquamous carcinoma A squamous cell carcinoma that contains squamous cells and gland-like cells. Adenosquamous carcinoma (morphologic abnormality) Adenosquamous cell carcinoma (disorder) DOID:4830 MSH:D018196 NCI:C3727 SNOMEDCT_US_2015_03_01:403902008 SNOMEDCT_US_2015_03_01:59367005 UMLS_CUI:C0206623 disease_ontology mixed adenocarcinoma and squamous carcinoma A squamous cell carcinoma that contains squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/ Adenosquamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403902008 Adenosquamous carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:59367005 NCI2004_11_17:C3727 mixed adenocarcinoma and squamous carcinoma spleen mast cell malignancy DOID:4831 Mast cell malignancy of spleen (disorder) disease_ontology malignant mast cell tumors involving spleen true Mast cell malignancy of spleen (disorder) SNOMEDCT_2005_07_31:188668006 ICD9CM_2006:202.67 malignant mast cell tumors involving spleen non small cell lung cancer recurrent DOID:4832 disease_ontology recurrent NSCLC true NCI2004_11_17:C7783 recurrent NSCLC recurrent lung carcinoma DOID:4833 disease_ontology relapsed Unspecified carcinoma of the lung true NCI2004_11_17:C8953 relapsed Unspecified carcinoma of the lung Gorham's disease A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. DOID:4837 Disappearing bone disease (disorder) Gorham disease Gorham-Stout Syndrome MSH:D010015 SNOMEDCT_US_2015_03_01:240161003 UMLS_CUI:C0029436 disease_ontology essential osteolysis massive osteolysis phantom bone disease Disappearing bone disease (disorder) SNOMEDCT_2005_07_31:240161003 A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. url:http://en.wikipedia.org/wiki/Gorham%27s_disease url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease myoepithelial carcinoma A carcinoma that derives_from myoepithelial cells. DOID:4838 NCI:C7596 SNOMEDCT_US_2015_03_01:128884000 SNOMEDCT_US_2015_03_01:24292006 UMLS_CUI:C0334699 disease_ontology A carcinoma that derives_from myoepithelial cells. url:http://www.diagnosticpathology.org/content/3/1/7 sebaceous adenocarcinoma DOID:4839 MSH:D018266 NCI:C40310 SNOMEDCT_US_2015_03_01:307599002 SNOMEDCT_US_2015_03_01:54734006 Sebaceous carcinoma UMLS_CUI:C0206684 adenocarcinoma of the Sebaceous gland disease_ontology NCI2004_11_17:C40310 Sebaceous carcinoma NCI2004_11_17:C3767 adenocarcinoma of the Sebaceous gland vascular hemostatic disease DOID:484 MSH:D020141 SNOMEDCT_US_2015_03_01:21112004 UMLS_CUI:C0600502 disease_ontology sebaceous carcinoma DOID:4840 ICD10CM:C44 NCI:C8409 SNOMEDCT_US_2015_03_01:188083002 SNOMEDCT_US_2015_03_01:255094009 UMLS_CUI:C1382026 disease_ontology malignant Sebaceous tumor malignant neoplasm of sebaceous gland SNOMEDCT_2005_07_31:188083002 malignant neoplasm of sebaceous gland NCI2004_11_17:C8409 malignant Sebaceous tumor SNOMEDCT_2005_07_31:255094009 malignant neoplasm of sebaceous gland SNOMEDCT_2005_07_31:94000008 malignant neoplasm of sebaceous gland malignant tumor of epidermal appendage DOID:4841 disease_ontology malignant skin Appendage neoplasm malignant tumor of epidermal appendage (disorder) true NCI2004_11_17:C4573 malignant skin Appendage neoplasm SNOMEDCT_2005_07_31:255093003 malignant tumor of epidermal appendage (disorder) subependymal glioma DOID:4843 MSH:D018315 NCI:C3795 OMIM:600139 SNOMEDCT_US_2015_03_01:189910001 SNOMEDCT_US_2015_03_01:4553004 Subependymal astrocytoma Subependymal astrocytoma NOS UMLS_CUI:C0206725 WHO grade I Ependymal tumor disease_ontology mixed subependymoma-ependymoma NCI2004_11_17:C6989 Subependymal astrocytoma SNOMEDCT_2005_07_31:189910001 Subependymal astrocytoma NOS NCI2004_11_17:C3795 WHO grade I Ependymal tumor SNOMEDCT_2005_07_31:4553004 mixed subependymoma-ependymoma benign ependymoma DOID:4844 MSH:D004806 NCI:C3017 SNOMEDCT_US_2015_03_01:189913004 SNOMEDCT_US_2015_03_01:253066003 SNOMEDCT_US_2015_03_01:443643007 SNOMEDCT_US_2015_03_01:57706008 UMLS_CUI:C0014474 WHO grade II Ependymal tumor disease_ontology epithelial ependymoma NCI2004_11_17:C3017 WHO grade II Ependymal tumor SNOMEDCT_2005_07_31:253066003 epithelial ependymoma pilomyxoid astrocytoma DOID:4845 NCI:C40315 SNOMEDCT_US_2015_03_01:388600004 UMLS_CUI:C1519086 disease_ontology cauda equina intradural extramedullary astrocytoma DOID:4846 Intradural Extramedullary Astrocytic tumor of the Cauda Equina NCI:C5408 UMLS_CUI:C1334254 disease_ontology Intradural Extramedullary Astrocytic tumor of the Cauda Equina NCI2004_11_17:C5408 cauda equina neoplasm DOID:4847 NCI:C5479 SNOMEDCT_US_2015_03_01:126963001 UMLS_CUI:C1263892 disease_ontology tumor of the Cauda Equina NCI2004_11_17:C5479 tumor of the Cauda Equina cerebellar astrocytoma DOID:4848 NCI:C9475 UMLS_CUI:C0740480 astrocytoma of Cerebellum disease_ontology NCI2004_11_17:C9475 astrocytoma of Cerebellum glioma of visual pathway DOID:4850 disease_ontology glioma of the optic tract true NCI2004_11_17:C8567 glioma of the optic tract pilocytic astrocytoma An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. DOID:4851 MSH:D001254 NCI:C4047 Piloid astrocytoma SNOMEDCT_US_2015_03_01:128854008 SNOMEDCT_US_2015_03_01:189915006 SNOMEDCT_US_2015_03_01:253064000 SNOMEDCT_US_2015_03_01:67859002 UMLS_CUI:C0334583 disease_ontology grade I Astrocytic tumor Piloid astrocytoma SNOMEDCT_2005_07_31:253064000 NCI2004_11_17:C4047 grade I Astrocytic tumor An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. url:http://en.wikipedia.org/wiki/Pilocytic_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=44341 pleomorphic xanthoastrocytoma DOID:4852 NCI:C4323 Pleomorphic Xantho-astrocytoma SNOMEDCT_US_2015_03_01:189924002 SNOMEDCT_US_2015_03_01:78838008 UMLS_CUI:C0334586 disease_ontology NCI2004_11_17:C4323 Pleomorphic Xantho-astrocytoma pilocytic astrocytoma of cerebellum Cerebellar Pilocytic astrocytoma DOID:4853 NCI:C6809 Pilocytic astrocytoma of cerebellum (disorder) SNOMEDCT_US_2015_03_01:277507004 UMLS_CUI:C0349620 disease_ontology Pilocytic astrocytoma of cerebellum (disorder) SNOMEDCT_2005_07_31:277507004 Cerebellar Pilocytic astrocytoma NCI2004_11_17:C6809 diencephalic astrocytomas DOID:4855 NCI:C5128 UMLS_CUI:C1333284 astrocytoma of Diencephalon disease_ontology NCI2004_11_17:C5128 astrocytoma of Diencephalon gliofibroma DOID:4856 Gliofibroma (morphologic abnormality) NCI:C5419 SNOMEDCT_US_2015_03_01:128909006 UMLS_CUI:C1266178 disease_ontology Gliofibroma (morphologic abnormality) SNOMEDCT_2005_07_31:128909006 diffuse astrocytoma DOID:4857 Diffuse astrocytoma (morphologic abnormality) Diffuse astrocytoma, low grade WHO grade II astrocytoma disease_ontology true Diffuse astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:397381007 Diffuse astrocytoma, low grade SNOMEDCT_2005_07_31:38713004 NCI2004_11_17:C7173 WHO grade II astrocytoma pineal gland astrocytoma DOID:4858 NCI:C8274 Pineal Astrocytic tumor UMLS_CUI:C0280795 disease_ontology NCI2004_11_17:C8274 Pineal Astrocytic tumor glomeruloid hemangioma DOID:486 Glomeruloid hemangioma (disorder) NCI:C27505 SNOMEDCT_US_2015_03_01:403976007 UMLS_CUI:C1304511 disease_ontology Glomeruloid hemangioma (disorder) SNOMEDCT_2005_07_31:403976007 brain stem astrocytic neoplasm Brainstem astrocytoma DOID:4860 NCI:C7445 UMLS_CUI:C1332608 disease_ontology Brainstem astrocytoma NCI2004_11_17:C7445 spinal cord astrocytoma DOID:4863 NCI:C4641 SNOMEDCT_US_2015_03_01:254948003 Spinal astrocytoma UMLS_CUI:C0349540 astrocytoma of spinal cord (disorder) disease_ontology SNOMEDCT_2005_07_31:254948003 astrocytoma of spinal cord (disorder) NCI2004_11_17:C4641 Spinal astrocytoma Rubella virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. DOID:4864 Rubivirus infectious disease disease_ontology true A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. url:http://www.ictvdb.org/ICTVdB/00.073.0.02.htm Togaviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. DOID:4865 disease_ontology true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. url:http://en.wikipedia.org/wiki/Togaviridae salivary gland adenoid cystic carcinoma A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. Cylindroma (morphologic abnormality) Cylindroma NOS DOID:4866 MSH:D003528 NCI:C2970 SNOMEDCT_US_2015_03_01:11671000 SNOMEDCT_US_2015_03_01:189594000 SNOMEDCT_US_2015_03_01:302827006 UMLS_CUI:C0010606 adenoid cystic cancer adenoid cystic carcinoma (morphologic abnormality) disease_ontology Cylindroma (morphologic abnormality) SNOMEDCT_2005_07_31:302827006 Cylindroma NOS SNOMEDCT_2005_07_31:189594000 NCI2004_11_17:C2970 adenoid cystic cancer A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:http://www.cigna.com/healthinfo/nord1109.html SNOMEDCT_2005_07_31:11671000 adenoid cystic carcinoma (morphologic abnormality) cervical adenoid cystic carcinoma DOID:4867 NCI:C6346 UMLS_CUI:C1332911 adenoid cystic carcinoma of the Cervix Uteri disease_ontology NCI2004_11_17:C6346 adenoid cystic carcinoma of the Cervix Uteri prostate adenoid cystic carcinoma DOID:4868 NCI:C5539 UMLS_CUI:C1335502 adenoid cystic carcinoma of prostate adenoid cystic carcinoma of the prostate disease_ontology NCI2004_11_17:C5539 adenoid cystic carcinoma of the prostate laryngeal adenoid cystic carcinoma DOID:4869 NCI:C9462 UMLS_CUI:C1334368 adenoid cystic carcinoma of Larynx disease_ontology NCI2004_11_17:C9462 adenoid cystic carcinoma of Larynx lacrimal gland adenoid cystic carcinoma DOID:4870 NCI:C4540 SNOMEDCT_US_2015_03_01:254987003 UMLS_CUI:C0346340 adenoid cystic carcinoma of lacrimal gland disease_ontology cutaneous adenocystic carcinoma DOID:4871 NCI:C4471 SNOMEDCT_US_2015_03_01:254711000 SNOMEDCT_US_2015_03_01:399968001 UMLS_CUI:C0346017 adenoid cystic carcinoma of the skin adenoid cystic eccrine carcinoma (morphologic abnormality) adenoid cystic eccrine carcinoma of skin (disorder) disease_ontology SNOMEDCT_2005_07_31:254711000 adenoid cystic eccrine carcinoma of skin (disorder) NCI2004_11_17:C4471 adenoid cystic carcinoma of the skin SNOMEDCT_2005_07_31:399968001 adenoid cystic eccrine carcinoma (morphologic abnormality) lung adenoid cystic carcinoma DOID:4872 NCI:C5666 UMLS_CUI:C1334439 adenoid cystic carcinoma of lung disease_ontology pulmonary adenoid cystic carcinoma NCI2004_11_17:C5666 pulmonary adenoid cystic carcinoma anterior horn cell disease DOID:4873 ICD9CM:335 ICD9CM:335.9 MSH:D016472 SNOMEDCT_US_2015_03_01:155014006 SNOMEDCT_US_2015_03_01:192884004 SNOMEDCT_US_2015_03_01:192892008 SNOMEDCT_US_2015_03_01:267693003 SNOMEDCT_US_2015_03_01:85672005 UMLS_CUI:C0154681 disease_ontology trachea adenoid cystic carcinoma DOID:4875 NCI:C6051 SNOMEDCT_US_2015_03_01:254619006 Tracheal adenoid cystic carcinoma UMLS_CUI:C0345945 adenoid cystic carcinoma of trachea adenoid cystic carcinoma of trachea (disorder) disease_ontology NCI2004_11_17:C6051 Tracheal adenoid cystic carcinoma SNOMEDCT_2005_07_31:254619006 adenoid cystic carcinoma of trachea (disorder) trachea carcinoma (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) A tracheal cancer that effects the airway that leads from the larynx to the bronchi. DOID:4876 SNOMEDCT_US_2015_03_01:154486000 SNOMEDCT_US_2015_03_01:269562004 UMLS_CUI:C0848879 carcinoma of the trachea disease_ontology (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) SNOMEDCT_2005_07_31:269562004 A tracheal cancer that effects the airway that leads from the larynx to the bronchi. url:http://nci.nih.gov/dictionary/?CdrID=46623 (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) SNOMEDCT_2005_07_31:154486000 breast adenoid cystic carcinoma DOID:4877 Mammary Adenocystic carcinoma NCI:C5130 UMLS_CUI:C1332167 adenoid cystic carcinoma of breast disease_ontology Mammary Adenocystic carcinoma NCI2004_11_17:C5130 esophageal adenoid cystic carcinoma An esophageal carcinoma that derives_from epithelial cells of the salivary gland. DOID:4878 NCI:C5342 UMLS_CUI:C1333441 adenoid cystic carcinoma, esophagus disease_ontology NCI2004_11_17:C5342 adenoid cystic carcinoma, esophagus An esophageal carcinoma that derives_from epithelial cells of the salivary gland. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma Bartholin's gland adenoid cystic carcinoma Bartholin gland adenoid cystic carcinoma DOID:4879 NCI:C40295 UMLS_CUI:C1511047 disease_ontology malignant bone vascular tumor DOID:488 bone vascular neoplasm disease_ontology osseous vascular tumor true NCI2004_11_17:C6478 osseous vascular tumor kidney clear cell sarcoma Clear cell sarcoma of kidney (morphologic abnormality) A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. Clear cell sarcoma of kidney (morphologic abnormality) DOID:4880 DOID:7745 NCI:C4264 SNOMEDCT_US_2015_03_01:189813000 SNOMEDCT_US_2015_03_01:24007003 UMLS_CUI:C0334488 childhood kidney clear cell sarcoma disease_ontology pediatric renal Clear cell sarcoma renal Clear cell sarcoma NCI2004_11_17:C4264 renal Clear cell sarcoma Clear cell sarcoma of kidney (morphologic abnormality) SNOMEDCT_2005_07_31:24007003 NCI2004_11_17:C6564 pediatric renal Clear cell sarcoma A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney url:http://www.cancer.gov/dictionary?CdrID=44997 Clear cell sarcoma of kidney (morphologic abnormality) SNOMEDCT_2005_07_31:189813000 pediatric soft part clear cell sarcoma DOID:4882 disease_ontology true peritoneal neoplasm DOID:4884 disease_ontology neoplasm of peritoneum (disorder) peritoneal neoplasm peritoneum neoplasm true SNOMEDCT_2005_07_31:126865007 neoplasm of peritoneum (disorder) CSP2005:2005-3788 peritoneum neoplasm NCI2004_11_17:C3322 peritoneal neoplasm Colorado tick fever A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. DOID:4885 ICD10CM:A93.2 MSH:D003121 SNOMEDCT_US_2015_03_01:186607005 SNOMEDCT_US_2015_03_01:6452009 Tick fever, American mountain UMLS_CUI:C0009400 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. url:http://emedicine.medscape.com/article/786688-overview MTHICD9_2006:066.1 Tick fever, American mountain Rotavirus infectious disease A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. DOID:4887 disease_ontology true A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/rotavirus/about/symptoms.html lymph node tuberculosis An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. DOID:4888 DOID:4889 ICD10CM:A18.2 Lymph Node Tuberculosis MSH:D014388 MSH:D018601 NCI:C26896 SNOMEDCT_US_2015_03_01:10893003 SNOMEDCT_US_2015_03_01:186260002 Tuberculous adenitis Tuberculous lymphadenopathy UMLS_CUI:C0041316 UMLS_CUI:C0242830 disease_ontology king's evil scrofula An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf SNOMEDCT_2005_07_31:186260002 Tuberculous adenitis MTHICD9_2006:017.2 Tuberculous adenitis SNOMEDCT_2005_07_31:10893003 Tuberculous lymphadenopathy Lymph Node Tuberculosis NCI2004_11_17:C26896 juvenile myoclonic epilepsy A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. DOID:0050326 DOID:4890 Janz syndrome MSH:D020190 NCI:C84796 OMIM:254770 OMIM:607631 OMIM:608816 OMIM:611364 OMIM:614280 ORDO:862 SNOMEDCT_US_2015_03_01:6204001 UMLS_CUI:C0270853 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. url:http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy url:http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic url:http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo middle ear adenocarcinoma A middle ear carcinoma that derives_from epithelial cells of glandular origin. DOID:4892 NCI:C6848 UMLS_CUI:C1334758 adenocarcinoma of middle ear adenocarcinoma of the middle ear disease_ontology A middle ear carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C6848 adenocarcinoma of the middle ear middle ear carcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4893 NCI:C6089 UMLS_CUI:C1334760 carcinoma of middle ear carcinoma of the middle ear disease_ontology NCI2004_11_17:C6089 carcinoma of the middle ear A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma rete ovarii adenocarcinoma DOID:4894 NCI:C40017 SNOMEDCT_US_2015_03_01:703655009 UMLS_CUI:C3840223 disease_ontology rete ovarii neoplasm DOID:4895 NCI:C40016 UMLS_CUI:C1514909 disease_ontology bile duct adenocarcinoma A bile duct carcinoma that derives_from epithelial cells of glandular origin. DOID:4896 NCI:C27813 SNOMEDCT_US_2015_03_01:70179006 UMLS_CUI:C1370800 disease_ontology A bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma bile duct carcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4897 MSH:D001650 NCI:C27814 SNOMEDCT_US_2015_03_01:70179006 UMLS_CUI:C0740277 disease_ontology A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp adenocarcinoma in a polyp DOID:4898 adenocarcinoma in adenomatous polyp adenocarcinoma in adenomatous polyp (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:43233001 adenocarcinoma in adenomatous polyp (morphologic abnormality) NCI2004_11_17:C7676 adenocarcinoma in adenomatous polyp hemangioma of lung DOID:490 disease_ontology pulmonary hemangioma NCI2004_11_17:C7747 pulmonary hemangioma mixed cell adenocarcinoma DOID:4900 disease_ontology mixed cell adenocarcinoma mixed cell adenocarcinoma (morphologic abnormality) true NCI2004_11_17:C4158 mixed cell adenocarcinoma SNOMEDCT_2005_07_31:38958001 mixed cell adenocarcinoma (morphologic abnormality) peritoneal serous adenocarcinoma DOID:4901 NCI:C40023 UMLS_CUI:C1514429 disease_ontology primary peritoneal serous adenocarcinoma appendix carcinoma (Ca appendix) or (appendix carcinoma) An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. Ca appendix DOID:4902 NCI:C9330 SNOMEDCT_US_2015_03_01:154462002 SNOMEDCT_US_2015_03_01:269541000 UMLS_CUI:C0728951 carcinoma of appendix disease_ontology (Ca appendix) or (appendix carcinoma) SNOMEDCT_2005_07_31:154462002 Ca appendix SNOMEDCT_2005_07_31:269541000 NCI2004_11_17:C9330 carcinoma of appendix An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma granular cell carcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. DOID:4903 MSH:D000230 NCI:C3681 SNOMEDCT_US_2015_03_01:69028005 UMLS_CUI:C0205644 disease_ontology granular cell adenocarcinoma granular cell carcinoma (morphologic abnormality) NCI2004_11_17:C3681 granular cell adenocarcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. url:http://en.wikipedia.org/wiki/Granular_cell_tumor SNOMEDCT_2005_07_31:69028005 granular cell carcinoma (morphologic abnormality) intestinal type carcinoma DOID:4904 adenocarcinoma, intestinal type (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:25190001 adenocarcinoma, intestinal type (morphologic abnormality) pancreatic carcinoma A pancreas cancer that derives_from epithelial cells located_in the pancreas. DOID:4905 EFO:0002618 Exocrine pancreas carcinoma MSH:C562463 NCI:C3850 OMIM mapping confirmed by DO. [SN]. OMIM:260350 Pancreatic carcinoma, familial SNOMEDCT_US_2015_03_01:154475002 SNOMEDCT_US_2015_03_01:255089009 SNOMEDCT_US_2015_03_01:372142002 SNOMEDCT_US_2015_03_01:93938001 UMLS_CUI:C0235974 carcinoma of pancreas carcinoma of pancreas (disorder) disease_ontology exocrine cancer SNOMEDCT_2005_07_31:93938001 carcinoma of pancreas SNOMEDCT_2005_07_31:372142002 carcinoma of pancreas (disorder) SNOMEDCT_2005_07_31:154475002 carcinoma of pancreas A pancreas cancer that derives_from epithelial cells located_in the pancreas. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.gov/cancertopics/types/pancreatic Exocrine pancreas carcinoma NCI2004_11_17:C3850 MSH:C535837 Pancreatic carcinoma, familial SNOMEDCT_2005_07_31:255089009 carcinoma of pancreas small intestine adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. DOID:4906 NCI:C7888 SNOMEDCT_US_2015_03_01:424440001 UMLS_CUI:C0278803 adenocarcinoma of small Intestine disease_ontology small intestinal adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C7888 small intestinal adenocarcinoma small intestine carcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. DOID:4907 NCI:C7724 UMLS_CUI:C0238196 cancer of the small bowel disease_ontology small bowel cancer small intestinal carcinoma NCI2004_11_17:C7724 small intestinal carcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine_cancer anal carcinoma A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. Ca anus DOID:4908 MSH:D001005 NCI:C9291 SNOMEDCT_US_2015_03_01:154467008 SNOMEDCT_US_2015_03_01:187762000 SNOMEDCT_US_2015_03_01:255084004 SNOMEDCT_US_2015_03_01:269546005 UMLS_CUI:C0279637 carcinoma of anus disease_ontology A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. url:http://en.wikipedia.org/wiki/Anal_cancer Ca anus SNOMEDCT_2005_07_31:269546005 NCI2004_11_17:C9291 carcinoma of anus urethra adenocarcinoma An urethra cancer that derives_from epithelial cells of glandular origin. DOID:4910 NCI:C6167 UMLS_CUI:C1336885 adenocarcinoma of the urethra disease_ontology NCI2004_11_17:C6167 adenocarcinoma of the urethra An urethra cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma superficial spreading adenocarcinoma DOID:4911 Superficial Spreading adenocarcinoma Superficial spreading adenocarcinoma (morphologic abnormality) disease_ontology true NCI2004_11_17:C4125 Superficial Spreading adenocarcinoma SNOMEDCT_2005_07_31:81446001 Superficial spreading adenocarcinoma (morphologic abnormality) disseminated adenocarcinoma DOID:4912 Disseminated adenocarcinoma Disseminated adenocarcinoma (morphologic abnormality) disease_ontology true Disseminated adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:301036008 Disseminated adenocarcinoma NCI2004_11_17:C27185 esophagus adenocarcinoma An esophageal carcinoma that derives_from epithelial cells of glandular origin. DOID:4914 MSH:C562730 NCI:C4025 Oesophageal adenocarcinoma NOS SNOMEDCT_US_2015_03_01:276803003 UMLS_CUI:C0279628 adenocarcinoma of esophagus adenocarcinoma of esophagus (disorder) disease_ontology NCI2004_11_17:C4025 Oesophageal adenocarcinoma NOS An esophageal carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_2005_07_31:276803003 adenocarcinoma of esophagus (disorder) basophilic carcinoma Basophil adenocarcinoma Basophil carcinoma (morphologic abnormality) DOID:4915 NCI:C4150 SNOMEDCT_US_2015_03_01:47107000 UMLS_CUI:C0334314 disease_ontology Basophil carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:47107000 Basophil adenocarcinoma NCI2004_11_17:C27392 pituitary carcinoma DOID:4916 MSH:D010911 NCI:C4536 SNOMEDCT_US_2015_03_01:128665000 SNOMEDCT_US_2015_03_01:254955001 UMLS_CUI:C0346300 carcinoma of the Pituitary gland disease_ontology NCI2004_11_17:C4536 carcinoma of the Pituitary gland villous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. DOID:4917 NCI:C4142 SNOMEDCT_US_2015_03_01:28558000 UMLS_CUI:C0334306 disease_ontology villous adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:28558000 villous adenocarcinoma (morphologic abnormality) An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. url:http://www.ncbi.nlm.nih.gov/pubmed/15489649 renal pelvis adenocarcinoma A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. DOID:4918 NCI:C6143 UMLS_CUI:C1335748 adenocarcinoma of renal pelvis adenocarcinoma of the kidney Pelvis disease_ontology A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C6143 adenocarcinoma of the kidney Pelvis renal pelvis carcinoma DOID:12343 DOID:4919 ICD10CM:C65 ICD9CM:189.1 NCI:C6142 NCI:C7525 SNOMEDCT_US_2015_03_01:188254006 SNOMEDCT_US_2015_03_01:363457009 SNOMEDCT_US_2015_03_01:93985007 UMLS_CUI:C0153618 UMLS_CUI:C1335749 carcinoma of kidney Pelvis disease_ontology malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis NOS (disorder) malignant renal Pelvis neoplasm malignant tumor of renal pelvis (disorder) renal pelvis cancer NCI2004_11_17:C7525 malignant renal Pelvis neoplasm NCI2004_11_17:C6142 carcinoma of kidney Pelvis ICD9CM_2006:189.1 SNOMEDCT_2005_07_31:93985007 malignant neoplasm of renal pelvis SNOMEDCT_2005_07_31:363457009 malignant tumor of renal pelvis (disorder) SNOMEDCT_2005_07_31:188254006 malignant neoplasm of renal pelvis NOS (disorder) acquired hemangioma DOID:492 NCI:C27018 UMLS_CUI:C0856897 disease_ontology eccrine adenocarcinoma An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. DOID:4920 Eccrine adenocarcinoma Eccrine adenocarcinoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128686000 UMLS_CUI:C1266066 disease_ontology Eccrine adenocarcinoma NCI2004_11_17:C27255 Eccrine adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128686000 An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma eccrine sweat gland cancer DOID:4921 NCI:C5559 UMLS_CUI:C1334577 disease_ontology malignant Eccrine tumor malignant eccrine skin neoplasm NCI2004_11_17:C5559 malignant Eccrine tumor breast secretory carcinoma DOID:4922 DOID:6586 Juvenile Secretory carcinoma of breast Juvenile carcinoma of the breast (morphologic abnormality) MSH:C537535 NCI:C4189 SNOMEDCT_US_2015_03_01:41919003 UMLS_CUI:C0334371 disease_ontology juvenile breast carcinoma juvenile carcinoma of the breast Juvenile Secretory carcinoma of breast NCI2004_11_17:C4189 Juvenile carcinoma of the breast (morphologic abnormality) SNOMEDCT_2005_07_31:41919003 thymus adenocarcinoma A thymic carcinoma that derives_from epithelial cells of glandular origin. DOID:4923 NCI:C6459 UMLS_CUI:C1336743 adenocarcinoma of the Thymus disease_ontology NCI2004_11_17:C6459 adenocarcinoma of the Thymus A thymic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma human papillomavirus related adenocarcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. DOID:4924 HPV-Related adenocarcinoma disease_ontology true HPV-Related adenocarcinoma NCI2004_11_17:C27684 A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://www.springerlink.com/content/7652866m7198p524/fulltext.pdf human papillomavirus related carcinoma A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. DOID:4925 HPV-Related carcinoma disease_ontology true A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. url:http://emedicine.medscape.com/article/219110-overview HPV-Related carcinoma NCI2004_11_17:C27674 bronchiolo-alveolar adenocarcinoma Alveolar adenocarcinoma (morphologic abnormality) Bronchioalveolar lung carcinoma Bronchiolo-alveolar adenocarcinoma (morphologic abnormality) Bronchioloalveolar adenocarcinoma Bronchioloalveolar carcinoma (disorder) DOID:4926 MSH:D002282 NCI:C2923 SNOMEDCT_US_2015_03_01:112677002 SNOMEDCT_US_2015_03_01:307595008 SNOMEDCT_US_2015_03_01:36310008 SNOMEDCT_US_2015_03_01:373627005 UMLS_CUI:C0007120 disease_ontology Bronchioloalveolar adenocarcinoma SNOMEDCT_2005_07_31:307595008 Alveolar adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:36310008 Bronchioalveolar lung carcinoma NCI2004_11_17:C2923 Bronchiolo-alveolar adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:112677002 Bronchioloalveolar carcinoma (disorder) SNOMEDCT_2005_07_31:373627005 Klatskin's tumor DOID:4927 Klatskin tumor Klatskin's tumor (disorder) Klatskin's tumor (morphologic abnormality) MSH:D018285 NCI:C36077 Perihilar extrahepatic bile duct carcinoma SNOMEDCT_US_2015_03_01:253017000 SNOMEDCT_US_2015_03_01:6492006 UMLS_CUI:C0206702 disease_ontology hilar cholangiocarcinoma NCI2004_11_17:C5859 Perihilar extrahepatic bile duct carcinoma Klatskin's tumor (morphologic abnormality) SNOMEDCT_2005_07_31:6492006 Klatskin's tumor (disorder) SNOMEDCT_2005_07_31:253017000 intrahepatic cholangiocarcinoma DOID:4928 ICD10CM:C22.1 Intrahepatic bile duct carcinoma (disorder) MSH:C535533 NCI:C35417 SNOMEDCT_US_2015_03_01:109842005 UMLS_CUI:C0345905 disease_ontology peripheral Cholangiocarcinoma Intrahepatic bile duct carcinoma (disorder) SNOMEDCT_2005_07_31:109842005 NCI2004_11_17:C35417 peripheral Cholangiocarcinoma tubular adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. DOID:4929 MSH:D000230 NCI:C65192 SNOMEDCT_US_2015_03_01:4631006 UMLS_CUI:C0205645 disease_ontology tubular adenocarcinoma (morphologic abnormality) tubular carcinoma SNOMEDCT_2005_07_31:4631006 tubular adenocarcinoma (morphologic abnormality) NCI2004_11_17:C3682 tubular carcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. url:http://onlinelibrary.wiley.com/store/10.1002/dc.2161/asset/2161_ftp.pdf?v=1&t=gpju9amb&s=f4e446d3a3c1e806325be5d11994dc6fb4670edf nasal cavity adenocarcinoma A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. DOID:4930 NCI:C6015 UMLS_CUI:C1334920 adenocarcinoma of nasal cavity adenocarcinoma of the nasal cavity disease_ontology NCI2004_11_17:C6015 adenocarcinoma of the nasal cavity A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma nasal cavity carcinoma A nasal cavity cancer that_has_material_basis_in epithelial cells. DOID:4931 NCI:C9336 UMLS_CUI:C1377785 cancer of nasal cavity carcinoma of nasal cavity disease_ontology NCI2004_11_17:C9336 cancer of nasal cavity A nasal cavity cancer that_has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma ampulla of Vater carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4932 NCI:C3908 SNOMEDCT_US_2015_03_01:254609000 UMLS_CUI:C0262401 ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater (disorder) disease_ontology An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI2004_11_17:C3908 ampulla of vater cancer SNOMEDCT_2005_07_31:254609000 carcinoma of ampulla of vater (disorder) apocrine adenocarcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. Apocrine adenocarcinoma (morphologic abnormality) Apocrine carcinoma DOID:4933 DOID:5571 SNOMEDCT_US_2015_03_01:57141000 UMLS_CUI:C0334346 apocrine gland carcinoma carcinoma of the Apocrine gland disease_ontology Apocrine adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:57141000 An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI2004_11_17:C5575 carcinoma of the Apocrine gland Apocrine carcinoma NCI2004_11_17:C4169 apocrine sweat gland cancer DOID:4934 NCI:C6800 UMLS_CUI:C1334561 disease_ontology malignant Apocrine tumor NCI2004_11_17:C6800 malignant Apocrine tumor acidophil carcinoma Acidophil carcinoma (morphologic abnormality) DOID:4935 Eosinophil carcinoma disease_ontology true Acidophil carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:51217003 Eosinophil carcinoma NCI2004_11_17:C4147 mixed eosinophil-basophil carcinoma DOID:4936 disease_ontology mixed acidophil-basophil carcinoma (morphologic abnormality) true SNOMEDCT_2005_07_31:23444003 mixed acidophil-basophil carcinoma (morphologic abnormality) oxyphilic adenocarcinoma DOID:4937 Follicular carcinoma, oxyphilic cell Hurthle cell adenocarcinoma disease_ontology true Follicular carcinoma, oxyphilic cell SNOMEDCT_2005_07_31:57596004 Hurthle cell adenocarcinoma NCI2004_11_17:C3679 ureter adenocarcinoma An ureter carcinoma that derives_from epithelial cells of glandular origin. DOID:4938 NCI:C6155 UMLS_CUI:C1336873 adenocarcinoma of ureter disease_ontology ureteral adenocarcinoma NCI2004_11_17:C6155 ureteral adenocarcinoma An ureter carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ureter carcinoma An ureter cancer that is located_in the ureter. DOID:4939 NCI:C8993 UMLS_CUI:C0600079 disease_ontology ureteral carcinoma NCI2004_11_17:C8993 ureteral carcinoma An ureter cancer that is located_in the ureter. url:http://www.mayoclinic.org/ureter-cancer/ combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma (disorder) Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) DOID:4942 carcinoma of Liver and Intrahepatic biliary tract disease_ontology true Combined hepatocellular carcinoma and cholangiocarcinoma (disorder) SNOMEDCT_2005_07_31:274902006 Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:52178006 NCI2004_11_17:C3828 carcinoma of Liver and Intrahepatic biliary tract adenocarcinoma in situ DOID:4943 MSH:D065311 NCI:C4123 SNOMEDCT_US_2015_03_01:51642000 UMLS_CUI:C0334276 adenocarcinoma in situ (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:51642000 adenocarcinoma in situ (morphologic abnormality) gastroesophageal junction adenocarcinoma DOID:4944 NCI:C9296 UMLS_CUI:C1332166 adenocarcinoma of Cardioesophageal junction adenocarcinoma of gastroesophageal junction disease_ontology NCI2004_11_17:C9296 adenocarcinoma of Cardioesophageal junction cholangiocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. DOID:4947 DOID:5249 ICD10CM:C22.1 MSH:D018281 NCI:C4436 NCI:C8265 SNOMEDCT_US_2015_03_01:312104005 SNOMEDCT_US_2015_03_01:70179006 UMLS_CUI:C0206698 UMLS_CUI:C0280725 adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma disease_ontology NCI2004_11_17:C4436 cholangiosarcoma NCI2004_11_17:C8265 adult primary Cholangiocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. url:http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma url:http://en.wikipedia.org/wiki/Cholangiocarcinoma url:http://www.cancer.gov/dictionary?CdrID=335064 gallbladder carcinoma A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:4948 NCI:C3844 SNOMEDCT_US_2015_03_01:187782001 SNOMEDCT_US_2015_03_01:255085003 SNOMEDCT_US_2015_03_01:372140005 SNOMEDCT_US_2015_03_01:93810008 UMLS_CUI:C0235782 cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder (disorder) disease_ontology SNOMEDCT_2005_07_31:372140005 carcinoma of gallbladder (disorder) NCI2004_11_17:C3844 cancer of the gallbladder A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://nci.nih.gov/cancertopics/types/gallbladder/ SNOMEDCT_2005_07_31:255085003 carcinoma gallbladder SNOMEDCT_2005_07_31:93810008 carcinoma gallbladder SNOMEDCT_2005_07_31:187782001 carcinoma gallbladder sclerosing hemangioma DOID:495 SNOMEDCT_US_2015_03_01:134302009 SNOMEDCT_US_2015_03_01:72079004 Sclerosing haemangioma Sclerosing hemangioma UMLS_CUI:C1509148 disease_ontology SNOMEDCT_2005_07_31:134302009 Sclerosing haemangioma SNOMEDCT_2005_07_31:72079004 Sclerosing haemangioma MTH:NOCODE Sclerosing hemangioma postpoliomyelitis syndrome A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. DOID:4952 ICD10CM:G14 MSH:D016262 Postpolio syndrome SNOMEDCT_US_2015_03_01:31097004 SNOMEDCT_US_2015_03_01:367094007 UMLS_CUI:C0080040 disease_ontology Postpolio syndrome SNOMEDCT_2005_07_31:367094007 A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. url:http://en.wikipedia.org/wiki/Postpolio_syndrome url:http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms poliomyelitis A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. DOID:4953 ICD10CM:A80 ICD10CM:A80.9 ICD9CM:045 ICD9CM:045.9 MSH:D011051 NCI:C35550 SNOMEDCT_US_2015_03_01:154320008 SNOMEDCT_US_2015_03_01:186475007 SNOMEDCT_US_2015_03_01:186481004 SNOMEDCT_US_2015_03_01:187390004 SNOMEDCT_US_2015_03_01:266189002 SNOMEDCT_US_2015_03_01:367318001 SNOMEDCT_US_2015_03_01:398102009 SNOMEDCT_US_2015_03_01:398256009 SNOMEDCT_US_2015_03_01:54839009 UMLS_CUI:C0032371 disease_ontology A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. url:http://en.wikipedia.org/wiki/Poliomyelitis url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms central nervous system melanocytic neoplasm DOID:4954 DOID:4955 NCI:C4661 NCI:C5504 SNOMEDCT_US_2015_03_01:277523004 UMLS_CUI:C0349623 UMLS_CUI:C1332887 central nervous system primary melanocytic lesion disease_ontology melanocytic tumor of the CNS primary melanocytic Lesions of the CNS primary melanocytic lesion of meninges (disorder) NCI2004_11_17:C5504 melanocytic tumor of the CNS NCI2004_11_17:C4661 primary melanocytic Lesions of the CNS SNOMEDCT_2005_07_31:277523004 primary melanocytic lesion of meninges (disorder) leptomeningeal neoplasm DOID:4956 disease_ontology true tumor of leptomeninges NCI2004_11_17:C4958 tumor of leptomeninges meninges hemangiopericytoma DOID:4957 Meningeal hemangiopericytoma NCI:C4660 SNOMEDCT_US_2015_03_01:277522009 UMLS_CUI:C0349622 disease_ontology hemangiopericytoma of meninges (disorder) Meningeal hemangiopericytoma NCI2004_11_17:C4660 SNOMEDCT_2005_07_31:277522009 hemangiopericytoma of meninges (disorder) central nervous system hemangiopericytoma A hemangiopericytoma which is manifested in the central nervous system. DOID:4958 disease_ontology true A hemangiopericytoma which is manifested in the central nervous system. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:http://www.ncbi.nlm.nih.gov/pubmed/1985083 epidermolysis bullosa dystrophica DOID:4959 Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa (disorder) ICD10CM:Q81.2 MSH:D016108 NCI:C84691 SNOMEDCT_US_2015_03_01:205587006 SNOMEDCT_US_2015_03_01:254185007 UMLS_CUI:C0079294 disease_ontology Dystrophic epidermolysis bullosa SNOMEDCT_2005_07_31:205587006 Dystrophic epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:254185007 spindle cell hemangioma DOID:496 NCI:C4754 SCH SNOMEDCT_US_2015_03_01:128769003 SNOMEDCT_US_2015_03_01:134304005 SNOMEDCT_US_2015_03_01:403967000 UMLS_CUI:C1304508 disease_ontology spindle cell angioendothelioma spindle cell hemangioendothelioma [dup] (morphologic abnormality) spindle cell hemangioma (disorder) SNOMEDCT_2005_07_31:134304005 spindle cell hemangioendothelioma [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:128769003 spindle cell angioendothelioma SNOMEDCT_2005_07_31:403967000 spindle cell hemangioma (disorder) NCI2004_11_17:C4754 SCH bone marrow cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. DOID:2356 DOID:2761 DOID:4960 EFO:0004251 ICD10CM:D47.1 MSH:D009196 Myeloid neoplasm (morphologic abnormality) Myeloproliferative disease NOS Myeloproliferative disease, NOS Myeloproliferative disease, no ICD-O subtype (morphologic abnormality) Myeloproliferative disorder (morphologic abnormality) Myeloproliferative tumors SNOMEDCT_US_2015_03_01:128925001 SNOMEDCT_US_2015_03_01:188772004 SNOMEDCT_US_2015_03_01:20921005 SNOMEDCT_US_2015_03_01:414794006 SNOMEDCT_US_2015_03_01:425333006 UMLS_CUI:C0027022 bone Marrow tumor bone marrow neoplasm disease_ontology malignant bone Marrow tumor malignant neoplasm of bone marrow myeloproliferative disease myeloproliferative disorder myeloproliferative neoplasm neoplasm of bone marrow (disorder) primary malignant neoplasm of bone marrow (disorder) SNOMEDCT_2005_07_31:414824005 neoplasm of bone marrow (disorder) Myeloproliferative disease, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:128925001 Myeloproliferative tumors NCI2004_11_17:C9290 CSP2005:2004-0492 bone marrow neoplasm NCI2004_11_17:C35501 malignant bone Marrow tumor NCI2004_11_17:C35370 bone Marrow tumor SNOMEDCT_2005_07_31:93720005 primary malignant neoplasm of bone marrow (disorder) Myeloid neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:414792005 MTHICD9_2006:238.7 Myeloproliferative disease NOS A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. url:http://nci.nih.gov/dictionary/?CdrID=430857 Myeloproliferative disorder (morphologic abnormality) SNOMEDCT_2005_07_31:414794006 CSP2005:2004-0893 myeloproliferative neoplasm Myeloproliferative disease, NOS SNOMEDCT_2005_07_31:20921005 bone marrow disease DOID:4961 MSH:D001855 NCI:C34433 SNOMEDCT_US_2015_03_01:127035006 UMLS_CUI:C0005956 bone marrow disorder disease_ontology CSP2005:0427-3773 bone marrow disorder pericardial tuberculosis An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. DOID:4962 ICD10CM:A18.84 MSH:D010495 SNOMEDCT_US_2015_03_01:67256000 UMLS_CUI:C0031049 disease_ontology tuberculous pericarditis An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf neurotic disorder An anxiety disorder that involves discress but neither delusions nor hallucinations. DOID:4964 DOID:6342 DOID:9687 ICD10CM:F34.1 ICD10CM:F48.9 MSH:D000275 MSH:D003866 MSH:D009497 NCI:C34533 NCI:C34848 NCI:C35369 Neurotic depression reactive type Neurotic depressive state Psychoneurosis NOS SNOMEDCT_US_2015_03_01:111475002 SNOMEDCT_US_2015_03_01:154881002 SNOMEDCT_US_2015_03_01:154889000 SNOMEDCT_US_2015_03_01:191740008 SNOMEDCT_US_2015_03_01:191748001 SNOMEDCT_US_2015_03_01:192372006 SNOMEDCT_US_2015_03_01:192442004 SNOMEDCT_US_2015_03_01:268632008 SNOMEDCT_US_2015_03_01:268753005 SNOMEDCT_US_2015_03_01:78667006 SNOMEDCT_US_2015_03_01:87414006 UMLS_CUI:C0011579 UMLS_CUI:C0027932 UMLS_CUI:C0282126 depressive neurosis disease_ontology neurosis neurotic depression reactive depression An anxiety disorder that involves discress but neither delusions nor hallucinations. url:http://en.wikipedia.org/wiki/Neurosis CSP2005:2483-6707 neurosis Neurotic depression reactive type SNOMEDCT_2005_07_31:191740008 MTHICD9_2006:300.4 Neurotic depressive state MTHICD9_2006:300.9 Psychoneurosis NOS MTH:NOCODE depressive neurosis adrenocortical hyperplasia Adrenal Cortical hyperplasia Adrenocortical hyperplasia (disorder) DOID:4966 disease_ontology true Adrenocortical hyperplasia (disorder) SNOMEDCT_2005_07_31:237777008 Adrenal Cortical hyperplasia NCI2004_11_17:C3506 adrenal hyperplasia Adrenal gland hyperplasia Adrenal hypertrophy or hyperplasia (disorder) DOID:4967 disease_ontology true Adrenal hypertrophy or hyperplasia (disorder) SNOMEDCT_2005_07_31:237775000 Adrenal gland hyperplasia NCI2004_11_17:C35408 Nelson syndrome DOID:4968 ICD10CM:E24.1 MSH:D009347 NCI:C84917 Nelson syndrome (disorder) Nelson's syndrome SNOMEDCT_US_2015_03_01:190503006 SNOMEDCT_US_2015_03_01:43019009 UMLS_CUI:C0027577 disease_ontology Nelson's syndrome SNOMEDCT_2005_07_31:190503006 Nelson syndrome (disorder) SNOMEDCT_2005_07_31:43019009 Gerstmann syndrome A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. Aphasia-angular gyrus syndrome (disorder) DOID:4969 MEDDRA:10048608 MSH:D005862 ORDO:221117 SNOMEDCT_US_2015_03_01:36785009 UMLS_CUI:C0017494 disease_ontology Aphasia-angular gyrus syndrome (disorder) SNOMEDCT_2005_07_31:36785009 A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. url:http://en.wikipedia.org/wiki/Gerstmann_syndrome url:http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm prosopagnosia An agnosia that results in the loss of the ability to consciously recognize familiar faces. DOID:4970 ICD10CM:R48.3 MSH:D020238 NCI:C85031 SNOMEDCT_US_2015_03_01:18358003 UMLS_CUI:C0234512 disease_ontology An agnosia that results in the loss of the ability to consciously recognize familiar faces. url:http://en.wikipedia.org/wiki/Agnosia myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. Agnogenic myeloid metaplasia Aleukemic myelosis DOID:4971 DOID:5737 ICD10CM:D47.4 ICD10CM:D75.81 ICD9CM:238.76 ICD9CM:289.83 MSH:D055728 Megakaryocytic myelosclerosis NCI:C2862 NCI:C3248 OMIM mapping confirmed by DO. [SN]. OMIM:254450 SNOMEDCT_US_2015_03_01:128843003 SNOMEDCT_US_2015_03_01:154841009 SNOMEDCT_US_2015_03_01:188773009 SNOMEDCT_US_2015_03_01:22265001 SNOMEDCT_US_2015_03_01:267572005 SNOMEDCT_US_2015_03_01:307651005 SNOMEDCT_US_2015_03_01:52967002 SNOMEDCT_US_2015_03_01:78956007 UMLS_CUI:C0001815 UMLS_CUI:C0026987 bone Marrow Fibrosis disease_ontology myelosclerosis primary myelofibrosis NCI2004_11_17:C36212 bone Marrow Fibrosis Megakaryocytic myelosclerosis SNOMEDCT_2005_07_31:189508006 CSP2005:2004-0936 myelosclerosis Aleukemic myelosis MTHICD9_2006:205.8 Agnogenic myeloid metaplasia SNOMEDCT_2005_07_31:52967002 A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. url:http://en.wikipedia.org/wiki/Myelofibrosis myelodysplastic myeloproliferative cancer A bone marrow cancer that results_in the overproduction of white blood cells. DOID:4972 DOID:6470 MSH:D054437 Myeloproliferative/Myelodysplastic syndromes NCI:C27262 SNOMEDCT_US_2015_03_01:397336008 SNOMEDCT_US_2015_03_01:445738007 UMLS_CUI:C1301355 disease_ontology myelodysplastic myeloproliferative disease Myeloproliferative/Myelodysplastic syndromes NCI2004_11_17:C27262 A bone marrow cancer that results_in the overproduction of white blood cells. url:http://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print actinobacillosis A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. Actinobacillosis, NOS DOID:4974 MSH:D000187 SNOMEDCT_US_2015_03_01:16140007 UMLS_CUI:C0001247 disease_ontology Actinobacillosis, NOS SNOMEDCT_2005_07_31:16140007 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/50100.htm url:http://www.sciencedirect.com/science/article/pii/073646799500066J url:www.jrheum.com/subscribers/04/08/tables/PDF/1663.pdf Actinobacillus infectious disease Actinobacillus infection (disorder) DOID:4975 disease_ontology true Actinobacillus infection (disorder) SNOMEDCT_2005_07_31:16140007 elephantiasis DOID:4976 Elephantiasis NOS MSH:D004604 NCI:C34569 SNOMEDCT_US_2015_03_01:155485008 SNOMEDCT_US_2015_03_01:240820001 SNOMEDCT_US_2015_03_01:266334008 UMLS_CUI:C0013882 disease_ontology Elephantiasis NOS MTHICD9_2006:457.1 lymphedema DOID:4977 Lymphatic edema (morphologic abnormality) Lymphoedema NOS MSH:D008209 NCI:C3207 SNOMEDCT_US_2015_03_01:155485008 SNOMEDCT_US_2015_03_01:195486001 SNOMEDCT_US_2015_03_01:234097001 SNOMEDCT_US_2015_03_01:266334008 SNOMEDCT_US_2015_03_01:30213001 UMLS_CUI:C0024236 disease_ontology Lymphatic edema (morphologic abnormality) SNOMEDCT_2005_07_31:30213001 Lymphoedema NOS SNOMEDCT_2005_07_31:266334008 Ewing's family recurrent tumor DOID:4978 disease_ontology recurrent Askin's tumor recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor true NCI2004_11_17:C27900 recurrent Askin's tumor NCI2004_11_17:C27898 recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor recurrent primitive neuroectodermal tumor DOID:4979 disease_ontology true metastatic Ewing's sarcoma DOID:4982 Ewing's sarcoma, metastatic disease_ontology true Ewing's sarcoma, metastatic NCI2004_11_17:C7807 metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4983 disease_ontology true extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 NCI:C7135 UMLS_CUI:C0279980 disease_ontology extraosseous Ewing's tumor NCI2004_11_17:C7135 extraosseous Ewing's tumor nonparalytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. DOID:4986 ICD10CM:A80.4 ICD9CM:045.2 ICD9CM:045.20 SNOMEDCT_US_2015_03_01:14535005 UMLS_CUI:C0152998 acute nonparalytic poliomyelitis disease_ontology non-paralytic aseptic meningitis A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms recurrent Ewing's sarcoma DOID:4987 disease_ontology relapsed Ewing's sarcoma true NCI2004_11_17:C7808 relapsed Ewing's sarcoma alcoholic pancreatitis DOID:4988 MSH:D019512 SNOMEDCT_US_2015_03_01:445507008 UMLS_CUI:C0376670 disease_ontology pancreatitis DOID:4989 EFO:0000278 ICD10CM:K85.9 MSH:D010195 NCI:C3306 SNOMEDCT_US_2015_03_01:197461009 SNOMEDCT_US_2015_03_01:393591004 SNOMEDCT_US_2015_03_01:75694006 UMLS_CUI:C0030305 disease_ontology essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. DOID:4990 ICD10CM:G25.0 MSH:D020329 OMIM:190300 OMIM:602134 OMIM:611456 OMIM:614782 ORDO:862 SNOMEDCT_US_2015_03_01:192839001 SNOMEDCT_US_2015_03_01:632009 UMLS_CUI:C0270736 Xref MGI. benign essential tremor disease_ontology essential hereditary tremor shaky hand syndrome A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. url:http://en.wikipedia.org/wiki/Essential_tremor url:http://ghr.nlm.nih.gov/condition/essential-tremor MTHICD9_2006:333.1 benign essential tremor optic nerve astrocytoma Astrocytic tumor of optic nerve DOID:4849 DOID:4991 NCI:C6769 NCI:C7533 UMLS_CUI:C1335114 UMLS_CUI:C1336971 disease_ontology optic tract astrocytoma Astrocytic tumor of optic nerve NCI2004_11_17:C6769 optic nerve glioma DOID:4992 MSH:D020339 NCI:C4537 SNOMEDCT_US_2015_03_01:254976006 SNOMEDCT_US_2015_03_01:404662003 UMLS_CUI:C0346326 disease_ontology glioma of the optic nerve NCI2004_11_17:C4537 glioma of the optic nerve atypical polypoid adenomyoma Atypical polypoid adenomyoma Atypical polypoid adenomyoma (morphologic abnormality) DOID:4993 NCI:C6895 SNOMEDCT_US_2015_03_01:388987001 SNOMEDCT_US_2015_03_01:40293003 UMLS_CUI:C1300347 disease_ontology Atypical polypoid adenomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:388987001 Atypical polypoid adenomyoma NCI2004_11_17:C6895 adenomyoma of uterine corpus DOID:4994 NCI:C6338 UMLS_CUI:C1336903 adenomyoma of Corpus Uteri disease_ontology NCI2004_11_17:C6338 adenomyoma of Corpus Uteri cervical adenomyoma DOID:4995 NCI:C40231 UMLS_CUI:C1516404 disease_ontology Camurati-Engelmann disease An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. DOID:4997 Diaphyseal dysplasia Engelman's disease ICD10CM:Q78.3 MSH:D003966 NCI:C84610 OMIM:131300 OMIM:606631 SNOMEDCT_US_2015_03_01:205505000 SNOMEDCT_US_2015_03_01:240174009 SNOMEDCT_US_2015_03_01:34643004 UMLS_CUI:C0011989 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology progressive diaphyseal dysplasia Diaphyseal dysplasia SNOMEDCT_2005_07_31:205505000 An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. url:http://en.wikipedia.org/wiki/Camurati-Engelmann_disease url:http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease url:http://www.ncbi.nlm.nih.gov/books/NBK1156/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328 url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease Engelman's disease SNOMEDCT_2005_07_31:240174009 trichorhinophalangeal syndrome type II An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. DOID:4998 Langer-Giedion syndrome MSH:D015826 NCI:C75118 OMIM mapping confirmed by DO. [SN]. OMIM:150230 SNOMEDCT_US_2015_03_01:239017000 SNOMEDCT_US_2015_03_01:41069008 Trichorhinophalangeal dysplasia type II UMLS_CUI:C0023003 disease_ontology An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome url:http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome url:http://www.healthline.com/galecontent/langer-giedion-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract SNOMEDCT_2005_07_31:239017000 Trichorhinophalangeal dysplasia type II syphilitic alopecia DOID:4999 Syphilitic alopecia (disorder) disease_ontology true SNOMEDCT_2005_07_31:59307008 Syphilitic alopecia (disorder) thyroid gland disease An endocrine system disease that is located_in the thyroid. DOID:50 ICD10CM:E00-E07 ICD10CM:E07.9 ICD9CM:240-246.99 ICD9CM:246.9 MSH:D013959 NCI:C26893 SNOMEDCT_US_2015_03_01:14304000 SNOMEDCT_US_2015_03_01:154649009 SNOMEDCT_US_2015_03_01:190232008 SNOMEDCT_US_2015_03_01:190311002 SNOMEDCT_US_2015_03_01:191036006 UMLS_CUI:C0040128 disease_ontology An endocrine system disease that is located_in the thyroid. url:http://en.wikipedia.org/wiki/Thyroid cutaneous syphilis DOID:5000 Syphilitic skin disorder disease_ontology true SNOMEDCT_2005_07_31:371237000 Syphilitic skin disorder equine infectious anemia A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. DOID:5002 Fever, swamp disease_ontology true A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. url:http://en.wikipedia.org/wiki/Equine_infectious_anemia Fever, swamp MTHICD9_2006:100.89 eunuchism A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. DOID:5003 Eunuchism (disorder) MSH:D005058 SNOMEDCT_US_2015_03_01:190559001 SNOMEDCT_US_2015_03_01:267403002 UMLS_CUI:C0238117 disease_ontology Eunuchism (disorder) SNOMEDCT_2005_07_31:267403002 A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. url:http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058 adult primary liver cancer DOID:5006 adult primary cancer of the Liver disease_ontology true NCI2004_11_17:C7711 adult primary cancer of the Liver resectable hepatocellular carcinoma DOID:5007 Resectable Hepatoma disease_ontology true NCI2004_11_17:C7691 Resectable Hepatoma central nervous system hemangioma DOID:501 NCI:C7004 UMLS_CUI:C1333957 disease_ontology hemangioma of CNS NCI2004_11_17:C7004 hemangioma of CNS hepatocellular fibrolamellar carcinoma DOID:5015 Fibrolamellar hepatocellular carcinoma (disorder) Hepatocellular carcinoma, fibrolamellar (morphologic abnormality) MSH:C537258 NCI:C4131 Oncocytic Hepatocellular tumor SNOMEDCT_US_2015_03_01:15619004 SNOMEDCT_US_2015_03_01:253018005 UMLS_CUI:C0334287 disease_ontology Hepatocellular carcinoma, fibrolamellar (morphologic abnormality) SNOMEDCT_2005_07_31:15619004 NCI2004_11_17:C4131 Oncocytic Hepatocellular tumor Fibrolamellar hepatocellular carcinoma (disorder) SNOMEDCT_2005_07_31:253018005 hepatocellular clear cell carcinoma Clear cell carcinoma of the Liver cells DOID:5016 NCI:C5754 UMLS_CUI:C1333067 disease_ontology Clear cell carcinoma of the Liver cells NCI2004_11_17:C5754 hepatitis virus related hepatocellular carcinoma DOID:5017 disease_ontology true non-resectable hepatocellular carcinoma DOID:5019 disease_ontology true central nervous system mesenchymal non-meningothelial tumor DOID:502 Non-meningothelial mesenchymal tumor disease_ontology NCI2004_11_17:C6972 Non-meningothelial mesenchymal tumor aflatoxins-related hepatocellular carcinoma DOID:5022 NCI:C27922 UMLS_CUI:C1332222 disease_ontology sclerosing hepatic carcinoma DOID:5026 NCI:C27388 SNOMEDCT_US_2015_03_01:128646008 Sclerosing Hepatocellular carcinoma Sclerosing hepatic carcinoma UMLS_CUI:C1266018 disease_ontology NCI2004_11_17:C27388 Sclerosing Hepatocellular carcinoma SNOMEDCT_2005_07_31:128646008 Sclerosing hepatic carcinoma recurrent hepatocellular carcinoma DOID:5027 disease_ontology relapsed Hepatoma true NCI2004_11_17:C9264 relapsed Hepatoma recurrent cancer of Liver DOID:5028 disease_ontology relapsed cancer of the Liver true NCI2004_11_17:C7110 relapsed cancer of the Liver Alphavirus infectious disease A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. DOID:5029 disease_ontology true A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. url:http://en.wikipedia.org/wiki/Alphavirus pineal parenchymal tumor of intermediate differentiation DOID:5030 NCI:C6967 Pineal Parenchymal tumor of Intermediate differentiation Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) Pineal parenchymal tumour of intermediate differentiation SNOMEDCT_US_2015_03_01:31671006 SNOMEDCT_US_2015_03_01:397379005 UMLS_CUI:C1367859 disease_ontology NCI2004_11_17:C6967 Pineal Parenchymal tumor of Intermediate differentiation Pineal parenchymal tumour of intermediate differentiation SNOMEDCT_2005_07_31:31671006 Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) SNOMEDCT_2005_07_31:397379005 adult pineal parenchymal tumor DOID:5031 NCI:C8273 UMLS_CUI:C0280794 adult Pineal Parenchymal neoplasm disease_ontology NCI2004_11_17:C8273 adult Pineal Parenchymal neoplasm pineal gland cancer An endocrine gland located_in the pineal gland located in the brain. DOID:1662 DOID:4859 DOID:5032 ICD10CM:C75.3 ICD9CM:194.4 MSH:D010871 NCI:C3328 NCI:C3573 NCI:C6965 Pinealoma (disorder) Pineocytic tumor SNOMEDCT_US_2015_03_01:127026004 SNOMEDCT_US_2015_03_01:359619007 SNOMEDCT_US_2015_03_01:363483004 SNOMEDCT_US_2015_03_01:47598005 SNOMEDCT_US_2015_03_01:93962006 UMLS_CUI:C0031941 UMLS_CUI:C0153655 UMLS_CUI:C1412004 disease_ontology malignant Pineal Region tumor malignant tumor of pineal gland (disorder) neoplasm of pineal gland (disorder) neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region CSP2005:2006-6484 pineal body neoplasm SNOMEDCT_2005_07_31:127026004 neoplasm of pineal gland (disorder) An endocrine gland located_in the pineal gland located in the brain. url:http://en.wikipedia.org/wiki/Pineal_gland Pinealoma (disorder) SNOMEDCT_2005_07_31:359619007 SNOMEDCT_2005_07_31:363483004 malignant tumor of pineal gland (disorder) NCI2004_11_17:C3328 neoplasm of the Pineal Region NCI2004_11_17:C6965 Pineocytic tumor NCI2004_11_17:C3573 malignant Pineal Region tumor myoblastoma DOID:5039 MSH:D009379 NCI:C3252 UMLS_CUI:C0027043 benign granular cell tumor disease_ontology NCI2004_11_17:C3252 benign granular cell tumor malignant granular cell esophageal tumor DOID:5040 NCI:C5700 UMLS_CUI:C1333448 disease_ontology granular cell tumor of esophagus NCI2004_11_17:C5700 granular cell tumor of esophagus esophageal cancer A gastrointestinal system cancer that is located_in the esophagus. Ca lower third oesophagus Ca middle third oesophagus DOID:10291 DOID:10292 DOID:10448 DOID:1102 DOID:1104 DOID:5041 ICD10CM:C15.3 ICD10CM:C15.4 ICD10CM:C15.5 ICD9CM:150.2 ICD9CM:150.3 ICD9CM:150.4 ICD9CM:150.5 ICD9CM:150.8 MSH:D004938 NCI:C3028 NCI:C3533 NCI:C3534 NCI:C3535 NCI:C4764 SNOMEDCT_US_2015_03_01:126817006 SNOMEDCT_US_2015_03_01:154443000 SNOMEDCT_US_2015_03_01:154444006 SNOMEDCT_US_2015_03_01:187724003 SNOMEDCT_US_2015_03_01:187725002 SNOMEDCT_US_2015_03_01:187726001 SNOMEDCT_US_2015_03_01:187727005 SNOMEDCT_US_2015_03_01:187729008 SNOMEDCT_US_2015_03_01:269523008 SNOMEDCT_US_2015_03_01:269524002 SNOMEDCT_US_2015_03_01:93656003 SNOMEDCT_US_2015_03_01:93877002 SNOMEDCT_US_2015_03_01:93895004 SNOMEDCT_US_2015_03_01:94119000 UMLS_CUI:C0014859 UMLS_CUI:C0153413 UMLS_CUI:C0153414 UMLS_CUI:C0153415 UMLS_CUI:C0153416 UMLS_CUI:C0496775 disease_ontology esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus NCI2004_11_17:C3535 malignant tumor of Distal Third of esophagus NCI2004_11_17:C3533 malignant tumor of Proximal Third of esophagus SNOMEDCT_2005_07_31:94119000 malignant neoplasm of upper third esophagus MTHICD9_2006:150.3 malignant neoplasm of proximal third of esophagus MTHICD9_2006:150.5 malignant neoplasm of distal third of esophagus Ca lower third oesophagus SNOMEDCT_2005_07_31:154444006 A gastrointestinal system cancer that is located_in the esophagus. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Esophagus NCI2004_11_17:C3534 malignant tumor of the middle Third of the esophagus Ca middle third oesophagus SNOMEDCT_2005_07_31:154443000 SNOMEDCT_2005_07_31:93895004 malignant neoplasm of middle third of oesophagus NCI2004_11_17:C4764 malignant tumor of abdominal esophagus SNOMEDCT_2005_07_31:93877002 malignant neoplasm of lower third of oesophagus malignant granular cell myoblastoma DOID:5042 NCI:C4336 SNOMEDCT_US_2015_03_01:13238004 SNOMEDCT_US_2015_03_01:404041003 UMLS_CUI:C0334618 disease_ontology granular cell tumor, malignant (morphologic abnormality) malignant granular cell neoplasm malignant granular cell tumor (disorder) SNOMEDCT_2005_07_31:13238004 granular cell tumor, malignant (morphologic abnormality) NCI2004_11_17:C4336 malignant granular cell neoplasm SNOMEDCT_2005_07_31:404041003 malignant granular cell tumor (disorder) vulvar granular cell tumor DOID:5043 NCI:C40328 UMLS_CUI:C1520083 disease_ontology cardiac granular cell neoplasm DOID:5044 NCI:C5360 UMLS_CUI:C1332845 disease_ontology granular cell tumor of Heart NCI2004_11_17:C5360 granular cell tumor of Heart mediastinal granular cell myoblastoma DOID:5046 NCI:C6601 UMLS_CUI:C1334656 disease_ontology granular cell tumor of mediastinum NCI2004_11_17:C6601 granular cell tumor of mediastinum neurohypophysis granular cell tumor DOID:5047 NCI:C7017 SNOMEDCT_US_2015_03_01:699331002 UMLS_CUI:C1333873 disease_ontology posterior pituitary gland neoplasm DOID:5048 NCI:C7157 Posterior Pituitary tumor UMLS_CUI:C1334957 disease_ontology NCI2004_11_17:C7157 Posterior Pituitary tumor hobnail hemangioma DOID:505 disease_ontology ehrlich tumor carcinoma DOID:5050 Ehrlich's tumor MSH:D002286 UMLS_CUI:C0007125 disease_ontology CSP2005:2000-2080 Ehrlich's tumor melioidosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. DOID:0050062 DOID:0050064 DOID:5052 ICD10CM:A24.9 ICD9CM:025 MSH:D008554 Melioidosis, unspecified (disorder) Nightcliff gardener's disease Pseudoglanders Pseudoglanders (disorder) SNOMEDCT_US_2015_03_01:187306003 SNOMEDCT_US_2015_03_01:34458001 SNOMEDCT_US_2015_03_01:428111003 UMLS_CUI:C0025229 Whitmore's disease acute and fulminating melioidosis disease_ontology subacute and chronic melioidosis Pseudoglanders (disorder) SNOMEDCT_2005_07_31:34458001 Melioidosis, unspecified (disorder) SNOMEDCT_2005_07_31:187306003 MTHICD9_2006:025 Pseudoglanders A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. url:http://www.cdc.gov/melioidosis/symptoms/index.html primary Burkholderia infectious disease DOID:5053 disease_ontology true neuronal and mixed neuronal-glial tumor of cerebellum DOID:5055 disease_ontology true adult cerebellar neoplasm DOID:5056 NCI:C5968 UMLS_CUI:C1332197 disease_ontology tumor of adult Cerebellum NCI2004_11_17:C5968 tumor of adult Cerebellum papillary meningioma of the cerebellum DOID:5057 NCI:C5270 Papillary meningioma of Cerebellum UMLS_CUI:C1332902 disease_ontology NCI2004_11_17:C5270 Papillary meningioma of Cerebellum rhabdoid meningioma DOID:5058 NCI:C6909 Papillary meningioma Papillary meningioma (morphologic abnormality) Rhabdoid meningioma SNOMEDCT_US_2015_03_01:399469000 UMLS_CUI:C0259786 disease_ontology meningioma, rhabdoid (morphologic abnormality) Papillary meningioma SNOMEDCT_2005_07_31:57606003 NCI2004_11_17:C6909 Rhabdoid meningioma NCI2004_11_17:C3904 Papillary meningioma SNOMEDCT_2005_07_31:399469000 meningioma, rhabdoid (morphologic abnormality) Papillary meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:128840000 childhood cerebellar neoplasm DOID:5059 NCI:C5970 UMLS_CUI:C1332959 disease_ontology pediatric tumor of Cerebellum NCI2004_11_17:C5970 pediatric tumor of Cerebellum phencyclidine abuse A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. DOID:5062 MSH:D010623 PCP abuse (disorder) Phencyclidine abuse SNOMEDCT_US_2015_03_01:7071007 UMLS_CUI:C0031391 disease_ontology A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Phencyclidine MTHICD9_2006:305.9 Phencyclidine abuse PCP abuse (disorder) SNOMEDCT_2005_07_31:7071007 basosquamous carcinoma Basisquamous cell carcinoma DOID:5063 MSH:D002281 Metatypical carcinoma (morphologic abnormality) NCI:C2922 SNOMEDCT_US_2015_03_01:254702000 SNOMEDCT_US_2015_03_01:37304002 SNOMEDCT_US_2015_03_01:6641007 UMLS_CUI:C0007118 basosquamous cell carcinoma disease_ontology Basisquamous cell carcinoma SNOMEDCT_2005_07_31:37304002 CSP2005:2000-2932 basosquamous cell carcinoma Metatypical carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:6641007 uterine corpus soft tissue neoplasm DOID:5069 disease_ontology true adjustment disorder A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. DOID:507 ICD9CM:309 ICD9CM:309.9 SNOMEDCT_US_2015_03_01:17226007 SNOMEDCT_US_2015_03_01:192068001 SNOMEDCT_US_2015_03_01:268781004 SNOMEDCT_US_2015_03_01:367487002 SNOMEDCT_US_2015_03_01:63608001 UMLS_CUI:C0040701 adjustment disease adjustment reaction disease_ontology A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. url:http://en.wikipedia.org/wiki/Adjustment_disorder url:http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704 url:http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm neoplasm of body of uterus DOID:5070 disease_ontology neoplasm of body of uterus (disorder) true tumor of Corpus Uteri NCI2004_11_17:C6300 tumor of Corpus Uteri SNOMEDCT_2005_07_31:126909004 neoplasm of body of uterus (disorder) central nervous system soft tissue neoplasm DOID:5071 disease_ontology soft tissue tumor of the CNS true NCI2004_11_17:C5449 soft tissue tumor of the CNS meninges gliomatosis DOID:5072 Gliomatosis of the meninges disease_ontology true Gliomatosis of the meninges NCI2004_11_17:C5446 malignant neoplasm of meninges DOID:5073 disease_ontology malignant Meningeal tumor malignant meningeal neoplasm (morphologic abnormality) malignant neoplasm of meninges NOS malignant neoplasm of meninges, unspecified malignant neoplasm of meninges, unspecified (disorder) malignant tumor of meninges (disorder) true SNOMEDCT_2005_07_31:188332006 malignant neoplasm of meninges, unspecified SNOMEDCT_2005_07_31:190136001 malignant neoplasm of meninges, unspecified (disorder) MTHICD9_2006:192.1 malignant neoplasm of meninges NOS SNOMEDCT_2005_07_31:363497007 malignant tumor of meninges (disorder) NCI2004_11_17:C4628 malignant Meningeal tumor SNOMEDCT_2005_07_31:414647009 malignant meningeal neoplasm (morphologic abnormality) malignant ependymoma A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. DOID:0060107 DOID:5074 Ependymal neoplasm NCI:C6770 UMLS_CUI:C1333407 disease_ontology ependymal tumors Ependymal neoplasm NCI2004_11_17:C6770 A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors myxopapillary ependymoma DOID:5075 MSH:D004806 Myxopapillary Ependymoma Myxopapillary ependymoma (morphologic abnormality) NCI:C3697 SNOMEDCT_US_2015_03_01:1623000 UMLS_CUI:C0205769 disease_ontology Myxopapillary ependymoma (morphologic abnormality) SNOMEDCT_2005_07_31:1623000 Myxopapillary Ependymoma NCI2004_11_17:C3697 mixed glioma DOID:5076 MSH:D005910 NCI:C3903 SNOMEDCT_US_2015_03_01:22217002 SNOMEDCT_US_2015_03_01:443937008 UMLS_CUI:C0259783 disease_ontology mixed Neuroglial tumor mixed glioma (morphologic abnormality) mixed gliomas SNOMEDCT_2005_07_31:22217002 mixed glioma (morphologic abnormality) MTH:NOCODE mixed gliomas NCI2004_11_17:C3903 mixed Neuroglial tumor subependymal giant cell astrocytoma DOID:5077 MSH:D001254 NCI:C3696 SEGA SNOMEDCT_US_2015_03_01:1586004 SNOMEDCT_US_2015_03_01:449799008 Subependymal giant cell astrocytoma (morphologic abnormality) UMLS_CUI:C0205768 disease_ontology NCI2004_11_17:C3696 SEGA SNOMEDCT_2005_07_31:1586004 Subependymal giant cell astrocytoma (morphologic abnormality) ganglioglioma A cell type benign neoplasm that has_material_basis_in glial-type cells. CNS ganglioglioma DOID:5078 DOID:5606 DOID:5607 MSH:D018303 NCI:C27362 NCI:C27363 NCI:C3788 SNOMEDCT_US_2015_03_01:89880005 UMLS_CUI:C0206716 UMLS_CUI:C1332202 UMLS_CUI:C1332969 adult ganglioglioma childhood ganglioglioma disease_ontology A cell type benign neoplasm that has_material_basis_in glial-type cells. url:http://en.wikipedia.org/wiki/Ganglioglioma url:http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD liver cirrhosis Cirrhosis DOID:5082 EFO:0001422 ICD10CM:K74.60 MSH:D008103 NCI:C2951 SNOMEDCT_US_2015_03_01:155809006 SNOMEDCT_US_2015_03_01:197309008 SNOMEDCT_US_2015_03_01:19943007 SNOMEDCT_US_2015_03_01:235891006 SNOMEDCT_US_2015_03_01:266537000 UMLS_CUI:C0023890 cirrhosis of liver disease_ontology Cirrhosis SNOMEDCT_2005_07_31:266537000 iodine hypothyroidism DOID:5083 ICD9CM:244.2 Iodine hypothyroidism (disorder) SNOMEDCT_US_2015_03_01:190279008 UMLS_CUI:C0154159 disease_ontology Iodine hypothyroidism (disorder) SNOMEDCT_2005_07_31:190279008 transmissible gastroenteritis of swine A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. DOID:5085 disease_ontology true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. url:http://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm transmissible enteritis of turkeys A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. Bluecomb disease (disorder) DOID:5086 disease_ontology mud fever true Bluecomb disease (disorder) SNOMEDCT_2005_07_31:68246002 A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. url:http://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg feline infectious peritonitis A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. DOID:5087 disease_ontology true A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. url:http://www.vet.cornell.edu/fhc/brochures/fip.html mixed epithelial stromal tumour DOID:5088 NCI:C37265 UMLS_CUI:C1334602 disease_ontology sternum cancer A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. DOID:5090 DOID:6763 NCI:C6730 NCI:C8408 SNOMEDCT_US_2015_03_01:126559003 Sternal tumor UMLS_CUI:C1290244 UMLS_CUI:C1382025 disease_ontology malignant Sternal tumor malignant sternal neoplasm neoplasm of sternum neoplasm of sternum (disorder) SNOMEDCT_2005_07_31:126559003 neoplasm of sternum (disorder) NCI2004_11_17:C8408 malignant Sternal tumor A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. url:http://www.cancer.gov/dictionary/?CdrID=482347 NCI2004_11_17:C6730 Sternal tumor thoracic cancer An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. DOID:3937 DOID:5093 ICD10CM:C76.1 ICD9CM:195.1 MSH:D013899 NCI:C3406 NCI:C3576 SNOMEDCT_US_2015_03_01:188361007 SNOMEDCT_US_2015_03_01:188365003 SNOMEDCT_US_2015_03_01:255058005 Thoracic tumor UMLS_CUI:C0039981 UMLS_CUI:C0153661 disease_ontology thorax cancer thorax neoplasm tumor of thorax (disorder) NCI2004_11_17:C3406 Thoracic tumor CSP2005:2005-5041 thorax neoplasm SNOMEDCT_2005_07_31:255058005 tumor of thorax (disorder) An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. url:http://www.advocatehealth.com/cmc/body.cfm?id=203 axillary cancer Axillary neoplasm DOID:5097 disease_ontology neoplasm of axilla (disorder) true SNOMEDCT_2005_07_31:126639006 neoplasm of axilla (disorder) Axillary neoplasm NCI2004_11_17:C35749 middle ear cancer An auditory system cancer that is located_in the middle ear. DOID:5099 NCI:C4412 SNOMEDCT_US_2015_03_01:127006003 UMLS_CUI:C0345617 disease_ontology neoplasm of middle ear (disorder) tumor of the middle ear SNOMEDCT_2005_07_31:127006003 neoplasm of middle ear (disorder) NCI2004_11_17:C4412 tumor of the middle ear An auditory system cancer that is located_in the middle ear. url:http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors middle ear disease DOID:5100 NCI:C27065 SNOMEDCT_US_2015_03_01:155260002 SNOMEDCT_US_2015_03_01:194327004 SNOMEDCT_US_2015_03_01:232250008 SNOMEDCT_US_2015_03_01:300195001 SNOMEDCT_US_2015_03_01:68996008 UMLS_CUI:C0271428 disease_ontology disorder of middle ear (disorder) middle ear disease - other middle ear disease - other (disorder) middle ear disorder middle ear problem (finding) SNOMEDCT_2005_07_31:68996008 disorder of middle ear (disorder) SNOMEDCT_2005_07_31:232250008 middle ear disease - other (disorder) NCI2004_11_17:C27065 middle ear disorder CSP2005:0977-6947 middle ear disorder SNOMEDCT_2005_07_31:300195001 middle ear problem (finding) SNOMEDCT_2005_07_31:194327004 middle ear disease - other auricular cancer DOID:5101 MSH:D004428 UMLS_CUI:C0751094 disease_ontology malignant tumor of ear NCI2004_11_17:C9337 malignant tumor of ear inner ear cancer DOID:5102 NCI:C39784 UMLS_CUI:C1512779 disease_ontology testicular infarct DOID:5104 NCI:C27617 SNOMEDCT_US_2015_03_01:33793000 UMLS_CUI:C0392041 disease_ontology infarction of testis (disorder) testicular infarction SNOMEDCT_2005_07_31:33793000 infarction of testis (disorder) NCI2004_11_17:C27617 testicular infarction achromic nevus Achromic nevus (disorder) DOID:5107 Nonpigmented nevus Nonpigmented nevus (morphologic abnormality) disease_ontology true NCI2004_11_17:C27095 Nonpigmented nevus Achromic nevus (disorder) SNOMEDCT_2005_07_31:403541001 Nonpigmented nevus (morphologic abnormality) SNOMEDCT_2005_07_31:112680001 swayback DOID:5112 MSH:D013540 SNOMEDCT_US_2015_03_01:78714004 Swayback of sheep (disorder) UMLS_CUI:C0038981 disease_ontology SNOMEDCT_2005_07_31:78714004 Swayback of sheep (disorder) nutritional deficiency disease DOID:5113 MSH:D003677 UMLS_CUI:C0011156 disease_ontology bovine virus diarrhea-mucosal disease A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. DOID:5115 disease_ontology true A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. url:http://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf central nervous system dermoid cyst DOID:5116 Dermoid Cyst of the CNS disease_ontology true Dermoid Cyst of the CNS NCI2004_11_17:C5508 dermoid cyst of ovary DOID:5117 Dermoid cyst (& [ovarian]) Dermoid cyst of ovary Dermoid cyst of ovary (disorder) MSH:C562731 NCI:C3856 OMIM mapping confirmed by DO. [SN]. OMIM:166950 Ovarian Dermoid Cyst SNOMEDCT_US_2015_03_01:119424003 SNOMEDCT_US_2015_03_01:154618004 SNOMEDCT_US_2015_03_01:189116006 SNOMEDCT_US_2015_03_01:269641006 UMLS_CUI:C0237020 disease_ontology Dermoid cyst of ovary SNOMEDCT_2005_07_31:189116006 Dermoid cyst (& [ovarian]) SNOMEDCT_2005_07_31:269641006 NCI2004_11_17:C3856 Ovarian Dermoid Cyst Dermoid cyst of ovary (disorder) SNOMEDCT_2005_07_31:119424003 Dermoid cyst (& [ovarian]) SNOMEDCT_2005_07_31:154618004 ovarian cystic teratoma DOID:5118 NCI:C7283 UMLS_CUI:C1335155 disease_ontology ovarian cyst DOID:5119 ICD10CM:N83.2 ICD9CM:620.2 SNOMEDCT_US_2015_03_01:198586000 UMLS_CUI:C0029513 disease_ontology epididymal neoplasm DOID:512 NCI:C39958 SNOMEDCT_US_2015_03_01:126902008 UMLS_CUI:C0346239 disease_ontology neoplasm of epididymis (disorder) SNOMEDCT_2005_07_31:126902008 neoplasm of epididymis (disorder) Roseolovirus infectious disease A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. DOID:5120 disease_ontology true A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. url:http://en.wikipedia.org/wiki/Roseolovirus mediastinum leiomyoma DOID:5123 NCI:C6598 UMLS_CUI:C1334659 disease_ontology leiomyoma of mediastinum NCI2004_11_17:C6598 leiomyoma of mediastinum fallopian tube leiomyoma DOID:5124 NCI:C40127 UMLS_CUI:C1517115 disease_ontology extrahepatic bile duct leiomyoma DOID:5125 NCI:C5855 UMLS_CUI:C1333507 disease_ontology leiomyoma of the extrahepatic bile duct NCI2004_11_17:C5855 leiomyoma of the extrahepatic bile duct central nervous system leiomyoma DOID:5126 NCI:C6998 UMLS_CUI:C1334382 disease_ontology leiomyoma of CNS NCI2004_11_17:C6998 leiomyoma of CNS bizarre leiomyoma Atypical leiomyoma DOID:5127 NCI:C4257 Pleomorphic leiomyoma SNOMEDCT_US_2015_03_01:48897006 Symplastic leiomyoma UMLS_CUI:C0334478 disease_ontology NCI2004_11_17:C6513 Pleomorphic leiomyoma Atypical leiomyoma NCI2004_11_17:C4257 SNOMEDCT_2005_07_31:48897006 Symplastic leiomyoma deep leiomyoma DOID:5128 NCI:C6512 UMLS_CUI:C1333266 disease_ontology simple partial epilepsy DOID:5129 ICD9CM:345.51 UMLS_CUI:C0154712 disease_ontology leiomyoma cutis Cutaneous leiomyoma (disorder) DOID:5132 NCI:C4482 SNOMEDCT_US_2015_03_01:254767008 UMLS_CUI:C0346064 disease_ontology leiomyoma of the skin Cutaneous leiomyoma (disorder) SNOMEDCT_2005_07_31:254767008 NCI2004_11_17:C4482 leiomyoma of the skin skin tumor of smooth muscle origin DOID:5133 Smooth Muscle skin neoplasm disease_ontology skin tumor of smooth muscle origin (disorder) true NCI2004_11_17:C4480 Smooth Muscle skin neoplasm SNOMEDCT_2005_07_31:254765000 skin tumor of smooth muscle origin (disorder) anus leiomyoma DOID:5134 NCI:C5608 UMLS_CUI:C1332266 disease_ontology leiomyoma of anus NCI2004_11_17:C5608 leiomyoma of anus lung leiomyoma DOID:5136 NCI:C5660 SNOMEDCT_US_2015_03_01:707374005 UMLS_CUI:C1334447 disease_ontology pulmonary leiomyoma NCI2004_11_17:C5660 pulmonary leiomyoma pericardium leiomyoma DOID:5137 NCI:C6743 UMLS_CUI:C1335380 disease_ontology leiomyoma of Pericardium NCI2004_11_17:C6743 leiomyoma of Pericardium leiomyomatosis DOID:5138 MSH:D018231 NCI:C3748 SNOMEDCT_US_2015_03_01:189789002 SNOMEDCT_US_2015_03_01:75210008 UMLS_CUI:C0206654 disease_ontology leiomyomatosis, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:75210008 leiomyomatosis, no ICD-O subtype (morphologic abnormality) cellular leiomyoma DOID:5139 NCI:C4256 SNOMEDCT_US_2015_03_01:90955001 UMLS_CUI:C0334477 cellular leiomyoma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:90955001 cellular leiomyoma (morphologic abnormality) gallbladder leiomyoma DOID:5140 NCI:C5747 UMLS_CUI:C1333745 disease_ontology leiomyoma of the gallbladder NCI2004_11_17:C5747 leiomyoma of the gallbladder vulvar leiomyoma DOID:5142 NCI:C40326 UMLS_CUI:C1520087 disease_ontology large bowel leiomyoma DOID:5143 NCI:C5677 UMLS_CUI:C1333113 disease_ontology leiomyoma of large Intestine NCI2004_11_17:C5677 leiomyoma of large Intestine appendix leiomyoma Appendiceal leiomyoma DOID:5146 NCI:C5514 UMLS_CUI:C1332327 disease_ontology Appendiceal leiomyoma NCI2004_11_17:C5514 dartoic leiomyoma DOID:5147 Dartoic leiomyoma Dartoic myoma (disorder) NCI:C4483 SNOMEDCT_US_2015_03_01:254770007 UMLS_CUI:C0346066 disease_ontology Dartoic leiomyoma NCI2004_11_17:C4483 Dartoic myoma (disorder) SNOMEDCT_2005_07_31:254770007 epithelioid neurofibroma DOID:5149 NCI:C6558 SNOMEDCT_US_2015_03_01:404032008 UMLS_CUI:C1275264 disease_ontology epithelioid Neurofibroma epithelioid neurofibroma (disorder) NCI2004_11_17:C6558 epithelioid Neurofibroma SNOMEDCT_2005_07_31:404032008 epithelioid neurofibroma (disorder) neurofibroma of gallbladder DOID:5150 NCI:C5746 Neurofibroma of the gallbladder UMLS_CUI:C1333751 disease_ontology NCI2004_11_17:C5746 Neurofibroma of the gallbladder plexiform neurofibroma DOID:5151 MSH:D018318 NCI:C3797 SNOMEDCT_US_2015_03_01:403818001 SNOMEDCT_US_2015_03_01:41252002 UMLS_CUI:C0206728 disease_ontology cellular neurofibroma DOID:5152 NCI:C41427 UMLS_CUI:C1516371 disease_ontology atypical neurofibroma DOID:5153 NCI:C41426 UMLS_CUI:C1510961 disease_ontology borna disease A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. DOID:5154 Enzootic encephalomyelitis MSH:D001890 SNOMEDCT_US_2015_03_01:76851008 UMLS_CUI:C0006023 disease_ontology A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. url:http://www.biomedcentral.com/1471-244X/10/70 Enzootic encephalomyelitis SNOMEDCT_2005_07_31:76851008 multiple mucosal neuroma DOID:5155 NCI:C6559 UMLS_CUI:C1334828 disease_ontology benign pleural mesothelioma DOID:5157 Mesothelioma of Pleura NCI:C9351 UMLS_CUI:C1377913 disease_ontology Mesothelioma of Pleura NCI2004_11_17:C9351 pleural cancer A connective tissue cancer that located_in the pleura. DOID:5158 DOID:9917 ICD10CM:C38.4 ICD9CM:163 ICD9CM:163.9 MSH:D010997 NCI:C3332 NCI:C3547 Pleural tumor SNOMEDCT_US_2015_03_01:126719004 SNOMEDCT_US_2015_03_01:187880003 SNOMEDCT_US_2015_03_01:363433009 SNOMEDCT_US_2015_03_01:93966009 UMLS_CUI:C0032229 UMLS_CUI:C0153494 disease_ontology neoplasm of pleura SNOMEDCT_2005_07_31:126719004 neoplasm of pleura NCI2004_11_17:C3332 Pleural tumor A connective tissue cancer that located_in the pleura. url:http://en.wikipedia.org/wiki/Pleural_cavity arteriosclerosis obliterans Arteriosclerosis obliterans (disorder) Arteriosclerosis obliterans (disorder) [Ambiguous] DOID:5160 MSH:D001162 SNOMEDCT_US_2015_03_01:361133006 SNOMEDCT_US_2015_03_01:60625000 UMLS_CUI:C0003851 disease_ontology Arteriosclerosis obliterans (disorder) SNOMEDCT_2005_07_31:361133006 Arteriosclerosis obliterans (disorder) [Ambiguous] SNOMEDCT_2005_07_31:60625000 Monckeberg arteriosclerosis DOID:5161 disease_ontology arteriolosclerosis Arteriolosclerosis (morphologic abnormality) DOID:5162 ICD10CM:I70 MSH:D050379 NCI:C35543 SNOMEDCT_US_2015_03_01:17941002 UMLS_CUI:C0878486 disease_ontology Arteriolosclerosis (morphologic abnormality) SNOMEDCT_2005_07_31:17941002 uterine corpus sarcoma An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. DOID:5165 NCI:C6339 SNOMEDCT_US_2015_03_01:254877001 UMLS_CUI:C0338113 disease_ontology sarcoma of Corpus Uteri sarcoma of uterus (disorder) NCI2004_11_17:C6339 sarcoma of Corpus Uteri An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient SNOMEDCT_2005_07_31:254877001 sarcoma of uterus (disorder) endometrial stromal tumor DOID:5166 MSH:D036821 SNOMEDCT_US_2015_03_01:446887007 SNOMEDCT_US_2015_03_01:68738004 UMLS_CUI:C0334695 disease_ontology endometrial Stromal neoplasm endometrial stromal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:68738004 endometrial stromal tumor (morphologic abnormality) NCI2004_11_17:C8384 endometrial Stromal neoplasm ovarian endometrioid stromal sarcoma DOID:5169 NCI:C40065 UMLS_CUI:C1518714 disease_ontology vaginal endometrial stromal sarcoma DOID:5170 NCI:C40270 UMLS_CUI:C3642329 disease_ontology vaginal endometrial stromal tumor DOID:5171 NCI:C40269 UMLS_CUI:C3642328 disease_ontology endometrium carcinoma in situ DOID:5172 ICD10CM:D07.0 SNOMEDCT_US_2015_03_01:189343006 SNOMEDCT_US_2015_03_01:92582009 UMLS_CUI:C0346191 carcinoma in situ of endometrium (disorder) disease_ontology endometrial carcinoma in situ SNOMEDCT_2005_07_31:92582009 carcinoma in situ of endometrium (disorder) NCI2004_11_17:C9071 endometrial carcinoma in situ renal Wilms' tumor DOID:5176 NCI:C6951 Nonanaplastic renal Wilm's tumor UMLS_CUI:C1335062 disease_ontology nonanaplastic renal wilms tumor NCI2004_11_17:C6951 Nonanaplastic renal Wilm's tumor metachronous kidney Wilms' tumor DOID:5178 NCI:C38158 UMLS_CUI:C1334705 disease_ontology metachronous Wilms tumor of the kidney mixed cell type kidney Wilms' tumor DOID:5179 NCI:C9149 UMLS_CUI:C0279611 disease_ontology mixed cell type renal Wilms tumor NCI2004_11_17:C9149 mixed cell type renal Wilms tumor scrotum neoplasm DOID:13158 DOID:518 ICD10CM:C63.2 ICD9CM:187.7 NCI:C3560 NCI:C4380 SNOMEDCT_US_2015_03_01:126905005 SNOMEDCT_US_2015_03_01:154538005 SNOMEDCT_US_2015_03_01:363454002 SNOMEDCT_US_2015_03_01:93999006 Scrotal Ca Scrotal tumor UMLS_CUI:C0153604 UMLS_CUI:C0341790 disease_ontology malignant Scrotal neoplasm malignant tumor of scrotum (disorder) malignant tumour of scrotum neoplasm of scrotum (disorder) scrotum cancer SNOMEDCT_2005_07_31:363454002 malignant tumor of scrotum (disorder) NCI2004_11_17:C3560 malignant Scrotal neoplasm SNOMEDCT_2005_07_31:93999006 Scrotal Ca SNOMEDCT_2005_07_31:126905005 neoplasm of scrotum (disorder) SNOMEDCT_2005_07_31:154538005 malignant tumour of scrotum NCI2004_11_17:C4380 Scrotal tumor blastema predominant kidney Wilms' tumor Blastema Predominant renal Wilms tumor DOID:5182 NCI:C9147 UMLS_CUI:C0279609 blastema predominant kidney adenosarcoma disease_ontology Blastema Predominant renal Wilms tumor NCI2004_11_17:C9147 hereditary Wilms' tumor A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. DOID:5183 Hereditary Wilms tumor NCI:C8496 UMLS_CUI:C0677779 WT1 disease_ontology hereditary Wilms' tumor Hereditary Wilms tumor NCI2004_11_17:C8496 A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. url:http://www.cancerindex.org/geneweb/X210202.htm recurrent nephroblastoma A nephroblastoma that recurs over time. DOID:5184 disease_ontology relapsed renal Wilms' tumor true A nephroblastoma that recurs over time. url:https://health.google.com/health/ref/Wilms+tumor NCI2004_11_17:C7845 relapsed renal Wilms' tumor anaplastic renal Wilms' tumor A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. DOID:5185 anaplastic renal Wilm's tumor anaplastic renal Wilms tumor disease_ontology true NCI2004_11_17:C6952 anaplastic renal Wilm's tumor A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp epithelial predominant Wilms' tumor DOID:5189 NCI:C9146 UMLS_CUI:C0279608 disease_ontology epithelial Predominant renal Wilms tumor epithelial predominant kidney adenosarcoma NCI2004_11_17:C9146 epithelial Predominant renal Wilms tumor aortitis Aortitis (disorder) Aortitis NOS DOID:519 ICD10CM:I77.6 MSH:D001025 NCI:C97085 SNOMEDCT_US_2015_03_01:195368003 SNOMEDCT_US_2015_03_01:70933002 UMLS_CUI:C0003509 disease_ontology Aortitis (disorder) SNOMEDCT_2005_07_31:70933002 Aortitis NOS MTHICD9_2006:447.6 cervical Wilms' tumor A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. DOID:5190 NCI:C40236 UMLS_CUI:C1516437 cervical Wilms tumor disease_ontology A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. url:http://www.ncbi.nlm.nih.gov/pubmed/10620450 stromal predominant kidney Wilms' tumor DOID:5191 NCI:C9148 Stromal Predominant renal Wilms tumor UMLS_CUI:C0279610 disease_ontology NCI2004_11_17:C9148 Stromal Predominant renal Wilms tumor nodular ganglioneuroblastoma DOID:5193 NCI:C42058 UMLS_CUI:C1517445 disease_ontology intermixed schwannian stroma-rich ganglioneuroblastoma DOID:5194 NCI:C42057 UMLS_CUI:C1517444 disease_ontology peripheral nervous system ganglioneuroblastoma DOID:5195 NCI:C6594 PNS Ganglioneuroblastoma UMLS_CUI:C1335387 disease_ontology NCI2004_11_17:C6594 PNS Ganglioneuroblastoma fallopian tube adenomatoid tumor DOID:5196 NCI:C40129 UMLS_CUI:C1517110 disease_ontology ureteral obstruction DOID:5199 ICD9CM:593.4 SNOMEDCT_US_2015_03_01:197807001 UMLS_CUI:C0029866 disease_ontology aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall. DOID:520 MSH:D001018 NCI:C101253 SNOMEDCT_US_2015_03_01:47040006 UMLS_CUI:C0003493 aortic disorder disease_ontology disorder of the aorta (disorder) SNOMEDCT_2005_07_31:47040006 disorder of the aorta (disorder) CSP2005:0571-0627 aortic disorder An artery disease that is characterized by degeneration of the cells composing the aortic wall. url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html url:https://www.cedars-sinai.edu/Patients/Programs-and-Services/Heart-Institute/Conditions/Aortic-Disease.aspx#3 urinary tract obstruction DOID:5200 ICD10CM:N13.9 ICD9CM:599.6 ICD9CM:599.60 NCI:C3675 NCI:C79805 Obstructive Uropathy SNOMEDCT_US_2015_03_01:197936002 SNOMEDCT_US_2015_03_01:266567006 SNOMEDCT_US_2015_03_01:266636004 SNOMEDCT_US_2015_03_01:7163005 UMLS_CUI:C0178879 disease_ontology urinary obstruction NCI2004_11_17:C3675 Obstructive Uropathy ICD9CM_2006:599.6 urinary obstruction fructose-1,6-bisphosphatase deficiency A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. DOID:5204 ICD10CM:E74.19 MSH:D015319 OMIM mapping confirmed by DO. [SN]. OMIM:229700 SNOMEDCT_US_2015_03_01:28183005 UMLS_CUI:C0016756 disease_ontology fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency CSP2005:1849-3494 fructose 1 phosphate aldolase deficiency A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. url:http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency url:http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency url:http://omim.org/entry/229700 inborn errors fructose metabolism DOID:5205 disease_ontology true monodermal teratoma DOID:5207 Monodermal teratoma (morphologic abnormality) NCI:C7286 Ovarian Monodermal teratoma SNOMEDCT_US_2015_03_01:399632009 UMLS_CUI:C1302569 disease_ontology Monodermal teratoma (morphologic abnormality) SNOMEDCT_2005_07_31:399632009 NCI2004_11_17:C7286 Ovarian Monodermal teratoma malignant struma ovarii DOID:5208 NCI:C4291 SNOMEDCT_US_2015_03_01:18854008 Struma ovarii, malignant (morphologic abnormality) UMLS_CUI:C0334525 disease_ontology SNOMEDCT_2005_07_31:18854008 Struma ovarii, malignant (morphologic abnormality) benign struma ovarii DOID:5209 NCI:C40012 UMLS_CUI:C1511104 disease_ontology congenital disorder of glycosylation A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. DOID:5212 MSH:D018981 NCI:C84615 OMIM:212065 OMIM:212066 ORDO:137 SNOMEDCT_US_2015_03_01:238049009 UMLS_CUI:C0282577 Xref MGI. carbohydrate-deficient glycoprotein syndrome disease_ontology A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation chronic inflammatory demyelinating polyradiculoneuropathy DOID:5213 MSH:D020277 NCI:C84636 SNOMEDCT_US_2015_03_01:128209004 UMLS_CUI:C0393819 chronic inflammatory demyelinating polyradiculoneuropathy (disorder) disease_ontology SNOMEDCT_2005_07_31:128209004 chronic inflammatory demyelinating polyradiculoneuropathy (disorder) demyelinating polyneuropathy DOID:5214 NCI:C27062 SNOMEDCT_US_2015_03_01:23414001 UMLS_CUI:C0270922 disease_ontology peripheral demyelinating neuropathy (disorder) SNOMEDCT_2005_07_31:23414001 peripheral demyelinating neuropathy (disorder) ephemeral fever A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. Bovine ephemeral fever DOID:5215 Ephemeral fever of cattle Three-Day Sickness Three-Day Stiffsickness disease_ontology true Ephemeral fever of cattle SNOMEDCT_2005_07_31:69869002 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. url:http://en.wikipedia.org/wiki/Bovine_ephemeral_fever url:http://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf chronic polyneuropathy DOID:5221 NCI:C36071 UMLS_CUI:C1167650 disease_ontology acute necrotizing encephalitis DOID:5222 MSH:D004684 NCI:C35383 SNOMEDCT_US_2015_03_01:111897007 UMLS_CUI:C0338418 acute Necrotizing Encephalitis acute necrotizing encephalitis (disorder) disease_ontology NCI2004_11_17:C35383 acute Necrotizing Encephalitis SNOMEDCT_2005_07_31:111897007 acute necrotizing encephalitis (disorder) infertility DOID:5223 MSH:D007246 NCI:C3836 SNOMEDCT_US_2015_03_01:15296000 SNOMEDCT_US_2015_03_01:162186008 SNOMEDCT_US_2015_03_01:289179008 SNOMEDCT_US_2015_03_01:8619003 UMLS_CUI:C0021359 disease_ontology acute hemorrhagic encephalitis DOID:5224 NCI:C35796 UMLS_CUI:C1332149 disease_ontology von Economo's disease DOID:5225 Encephalitis Lethargica Encephalitis lethargica Encephalitis lethargica (disorder) Encephalitis lethargica (disorder) [Ambiguous] ICD10CM:A85.8 NCI:C26761 SNOMEDCT_US_2015_03_01:186499007 SNOMEDCT_US_2015_03_01:186500003 SNOMEDCT_US_2015_03_01:20411005 UMLS_CUI:C0014040 disease_ontology von Economo disease Encephalitis Lethargica NCI2004_11_17:C26761 Encephalitis Lethargica MTH:NOCODE Encephalitis lethargica (disorder) [Ambiguous] SNOMEDCT_2005_07_31:20411005 Encephalitis lethargica (disorder) SNOMEDCT_2005_07_31:186499007 Encephalitis lethargica SNOMEDCT_2005_07_31:186500003 vaginal blue nevus DOID:5226 disease_ontology true cellular blue nevus DOID:5227 cellular Blue nevus of the skin cellular blue nevus (morphologic abnormality) cellular blue nevus of skin (disorder) disease_ontology true SNOMEDCT_2005_07_31:254808005 cellular blue nevus of skin (disorder) SNOMEDCT_2005_07_31:88006009 cellular blue nevus (morphologic abnormality) NCI2004_11_17:C4241 cellular Blue nevus of the skin common blue nevus Blue nevus of Jadassohn-Tieche Common Blue nevus Common blue nevus of skin (disorder) DOID:5228 disease_ontology true Common blue nevus of skin (disorder) SNOMEDCT_2005_07_31:254807000 Common Blue nevus NCI2004_11_17:C4496 hepatoerythropoietic porphyria DOID:5230 MSH:D017121 NCI:C84754 UMLS_CUI:C0162569 disease_ontology peritoneal and retroperitoneal tumors DOID:5231 disease_ontology true aortic valve prolapse DOID:5232 MSH:D001023 UMLS_CUI:C0003505 disease_ontology glomangiosarcoma DOID:5233 NCI:C4221 SNOMEDCT_US_2015_03_01:128908003 SNOMEDCT_US_2015_03_01:13875003 UMLS_CUI:C1266111 disease_ontology malignant Glomus neoplasm NCI2004_11_17:C4221 malignant Glomus neoplasm subungual glomus tumor DOID:5236 NCI:C36079 SNOMEDCT_US_2015_03_01:403973004 Subungual Glomus tumor UMLS_CUI:C1304510 disease_ontology NCI2004_11_17:C36079 Subungual Glomus tumor benign perivascular tumor DOID:5238 NCI:C6529 UMLS_CUI:C1332532 disease_ontology glomus tumor of uncertain malignant potential DOID:5239 disease_ontology true central nervous system AIDS arteritis A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. DOID:524 disease_ontology true A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://jnnp.bmj.com/content/80/8/831.long retinal hemangioblastoma DOID:5240 NCI:C39783 UMLS_CUI:C1514915 disease_ontology hemangioblastoma Capillary Hemangioblastoma DOID:5241 MSH:D018325 NCI:C3801 SNOMEDCT_US_2015_03_01:81201000 UMLS_CUI:C0206734 disease_ontology Capillary Hemangioblastoma NCI2004_11_17:C3801 resectable cholangiocellular carcinoma DOID:5242 disease_ontology true visual alteration DOID:5244 disease_ontology true recurrent cholangiocellular carcinoma DOID:5245 disease_ontology true hilar cholangiocellular carcinoma DOID:5246 NCI2009_04D:C36077 disease_ontology liver fluke-related cholangiocarcinoma DOID:5247 Opisthorchis Viverrini-Related Cholangiocellular carcinoma disease_ontology true NCI2004_11_17:C27769 Opisthorchis Viverrini-Related Cholangiocellular carcinoma parasite-related carcinoma DOID:5248 disease_ontology true central nervous system vasculitis DOID:525 MSH:D020293 NCI:C84622 UMLS_CUI:C0751878 disease_ontology non-resectable cholangiocellular carcinoma DOID:5250 disease_ontology true inflammatory leiomyosarcoma DOID:5251 NCI:C27495 UMLS_CUI:C1334179 disease_ontology leiomyosarcoma recurrent DOID:5252 disease_ontology relapsed leiomyosarcoma true NCI2004_11_17:C8815 relapsed leiomyosarcoma conventional leiomyosarcoma DOID:5253 NCI:C9428 UMLS_CUI:C1333157 disease_ontology central nervous system leiomyosarcoma DOID:5254 NCI:C6999 UMLS_CUI:C1334385 disease_ontology leiomyosarcoma of the CNS NCI2004_11_17:C6999 leiomyosarcoma of the CNS leiomyosarcoma nonmetastatic DOID:5255 Non-metastatic leiomyosarcoma disease_ontology true NCI2004_11_17:C8814 Non-metastatic leiomyosarcoma granular cell leiomyosarcoma DOID:5258 NCI:C27494 UMLS_CUI:C1333871 disease_ontology colon leiomyosarcoma A leiomyosarcoma and sarcoma of colon that is located_in the colon. Colonic leiomyosarcoma DOID:5259 NCI:C5494 UMLS_CUI:C1333093 disease_ontology A leiomyosarcoma and sarcoma of colon that is located_in the colon. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm Colonic leiomyosarcoma NCI2004_11_17:C5494 Human immunodeficiency virus infectious disease A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. DOID:526 HIV infection ICD10CM:B20 ICD10CM:B20-B20 ICD9CM:042 ICD9CM:042-042.99 MSH:D015658 NCI:C3108 SNOMEDCT_US_2015_03_01:123321001 SNOMEDCT_US_2015_03_01:186705005 SNOMEDCT_US_2015_03_01:187438009 SNOMEDCT_US_2015_03_01:187453001 SNOMEDCT_US_2015_03_01:86406008 UMLS_CUI:C0019693 disease_ontology CSP2005:1560-6305 HIV infection A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. url:http://en.wikipedia.org/wiki/HIV url:http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm colon sarcoma A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. Colonic sarcoma DOID:5260 NCI:C5495 UMLS_CUI:C1333098 disease_ontology A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. url:http://www3.interscience.wiley.com/journal/76043/abstract Colonic sarcoma NCI2004_11_17:C5495 heart leiomyosarcoma DOID:5261 NCI:C5364 UMLS_CUI:C1332848 disease_ontology leiomyosarcoma of Heart NCI2004_11_17:C5364 leiomyosarcoma of Heart heart sarcoma A sarcoma and malignant neoplasm of heart that is located_in the heart. DOID:5262 NCI:C7723 UMLS_CUI:C0238152 cardiac sarcoma disease_ontology sarcoma of Heart A sarcoma and malignant neoplasm of heart that is located_in the heart. url:http://www.urmc.rochester.edu/encyclopedia/content.cfm?pageid=P06597 NCI2004_11_17:C7723 sarcoma of Heart ovary leiomyosarcoma DOID:5263 NCI:C5234 UMLS_CUI:C1335163 disease_ontology leiomyosarcoma of Ovary NCI2004_11_17:C5234 leiomyosarcoma of Ovary epithelioid leiomyosarcoma DOID:5264 MSH:D007890 NCI:C3700 SNOMEDCT_US_2015_03_01:42392001 UMLS_CUI:C0205815 disease_ontology lung leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. DOID:5265 NCI:C5667 UMLS_CUI:C1334448 disease_ontology pulmonary leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. url:www.chestjournal.org/cgi/reprint/56/5/452.pdf NCI2004_11_17:C5667 pulmonary leiomyosarcoma leiomyosarcoma metastatic DOID:5266 disease_ontology true anus leiomyosarcoma A leiomyosarcoma and sarcoma of the anus that is located_in the anus. DOID:5267 NCI:C5599 UMLS_CUI:C1332267 disease_ontology leiomyosarcoma of anus A leiomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://www.springerlink.com/content/t57853114066u8n8/ NCI2004_11_17:C5599 leiomyosarcoma of anus myxoid leiomyosarcoma DOID:5268 MSH:D007890 Myxoid leiomyosarcoma Myxoid leiomyosarcoma (morphologic abnormality) NCI:C3701 SNOMEDCT_US_2015_03_01:16090008 SNOMEDCT_US_2015_03_01:189792003 UMLS_CUI:C0205816 disease_ontology Myxoid leiomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:16090008 Myxoid leiomyosarcoma SNOMEDCT_2005_07_31:189792003 Myxoid leiomyosarcoma NCI2004_11_17:C3701 small intestine leiomyosarcoma A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. DOID:5271 NCI:C7085 UMLS_CUI:C0920305 disease_ontology leiomyosarcoma of the small Bowel smooth muscle connective tissue tumor A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. url:http://en.wikipedia.org/wiki/Leiomyosarcoma NCI2004_11_17:C7085 leiomyosarcoma of the small Bowel small intestinal sarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. DOID:5272 NCI:C5335 UMLS_CUI:C1336007 disease_ontology sarcoma of the Small Intestine NCI2004_11_17:C5335 sarcoma of the Small Intestine A sarcoma and malignant tumor of small intestine that is located_in the small intestine. url:http://www.cancer.gov/cancertopics/types/smallintestine cutaneous leiomyosarcoma Cutaneous leiomyosarcoma (disorder) DOID:5273 NCI:C4484 SNOMEDCT_US_2015_03_01:254771006 UMLS_CUI:C0346067 disease_ontology leiomyosarcoma of the skin Cutaneous leiomyosarcoma (disorder) SNOMEDCT_2005_07_31:254771006 NCI2004_11_17:C4484 leiomyosarcoma of the skin malignant dermis tumor DOID:5274 NCI:C4574 SNOMEDCT_US_2015_03_01:255096006 UMLS_CUI:C0346811 disease_ontology malignant neoplasm of Dermis malignant tumor of dermis (disorder) NCI2004_11_17:C4574 malignant neoplasm of Dermis SNOMEDCT_2005_07_31:255096006 malignant tumor of dermis (disorder) gallbladder leiomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. DOID:5275 NCI:C5841 UMLS_CUI:C1333746 disease_ontology leiomyosarcoma of the gallbladder NCI2004_11_17:C5841 leiomyosarcoma of the gallbladder A gallbladder sarcoma that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Leiomyosarcoma url:http://www.ncbi.nlm.nih.gov/pubmed/2278917 esophagus leiomyosarcoma DOID:5276 NCI:C5334 UMLS_CUI:C1333454 disease_ontology leiomyosarcoma of esophagus NCI2004_11_17:C5334 leiomyosarcoma of esophagus pediatric leiomyosarcoma DOID:5278 disease_ontology true hydrarthrosis DOID:528 ICD9CM:719.08 SNOMEDCT_US_2015_03_01:156579009 SNOMEDCT_US_2015_03_01:202370001 UMLS_CUI:C0158157 disease_ontology gastric leiomyosarcoma DOID:5280 NCI:C27200 SNOMEDCT_US_2015_03_01:447785000 UMLS_CUI:C0744295 disease_ontology malignant mesenchymal neoplasm of the stomach DOID:5281 disease_ontology malignant mesenchymal neoplasm of stomach true NCI2004_11_17:C27439 malignant mesenchymal neoplasm of stomach prostate leiomyosarcoma A prostate sarcoma that is located_in the prostate. DOID:5282 NCI:C5526 UMLS_CUI:C1335511 disease_ontology leiomyosarcoma of the prostate NCI2004_11_17:C5526 leiomyosarcoma of the prostate A prostate sarcoma that is located_in the prostate. url:http://www3.interscience.wiley.com/journal/112677325/abstract vagina leiomyosarcoma DOID:5283 NCI:C6326 UMLS_CUI:C1336940 disease_ontology leiomyosarcoma of the vagina NCI2004_11_17:C6326 leiomyosarcoma of the vagina retroperitoneal leiomyosarcoma DOID:5284 NCI2009_04D:C27904 disease_ontology breast leiomyosarcoma DOID:5285 NCI:C5186 UMLS_CUI:C1332631 disease_ontology leiomyosarcoma of the breast NCI2004_11_17:C5186 leiomyosarcoma of the breast vulvar leiomyosarcoma DOID:5286 NCI2009_04D:C40318 disease_ontology kidney leiomyosarcoma A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. DOID:5287 NCI:C6183 UMLS_CUI:C1335743 disease_ontology leiomyosarcoma of kidney A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. url:http://www.sage-hindawi.com/journals/pri/2010/652398.html NCI2004_11_17:C6183 leiomyosarcoma of kidney larynx leiomyosarcoma A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx. DOID:5288 NCI:C6022 UMLS_CUI:C1334371 disease_ontology leiomyosarcoma of Larynx A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx. url:http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ NCI2004_11_17:C6022 leiomyosarcoma of Larynx uterus leiomyosarcoma A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. DOID:5289 NCI:C6340 SNOMEDCT_US_2015_03_01:447389009 UMLS_CUI:C0280631 disease_ontology leiomyosarcoma of Corpus Uteri NCI2004_11_17:C6340 leiomyosarcoma of Corpus Uteri A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. url:http://en.wikipedia.org/wiki/Leiomyosarcoma blepharospasm A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. Blepharospasm (disorder) DOID:529 ICD10CM:G24.5 ICD9CM:333.81 MSH:D001764 OMIM mapping confirmed by DO. [SN]. OMIM:606798 SNOMEDCT_US_2015_03_01:155009007 SNOMEDCT_US_2015_03_01:267690000 UMLS_CUI:C0005747 disease_ontology A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Blepharospasm (disorder) SNOMEDCT_2005_07_31:59026006 uterine corpus smooth muscle neoplasm DOID:5290 disease_ontology true adult leiomyosarcoma DOID:5291 disease_ontology true mediastinum leiomyosarcoma A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. DOID:5292 NCI:C6619 UMLS_CUI:C1334660 disease_ontology leiomyosarcoma of mediastinum NCI2004_11_17:C6619 leiomyosarcoma of mediastinum A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. url:http://ejcts.ctsnetjournals.org/cgi/content/full/21/5/943 extrahepatic bile duct leiomyosarcoma A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. DOID:5293 NCI:C5848 UMLS_CUI:C1333508 disease_ontology leiomyosarcoma of the bile duct A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. url:http://www.cancer.gov/dictionary/?CdrID=44498 url:http://www.cancer.gov/dictionary/?CdrID=46027 NCI2004_11_17:C5848 leiomyosarcoma of the bile duct vessel leiomyosarcoma DOID:5294 disease_ontology leiomyosarcoma of Vessels true NCI2004_11_17:C5387 leiomyosarcoma of Vessels intestinal disease A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:5295 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MSH:D007410 NCI:C26801 SNOMEDCT_US_2015_03_01:155629009 SNOMEDCT_US_2015_03_01:197266001 SNOMEDCT_US_2015_03_01:266483008 SNOMEDCT_US_2015_03_01:85919009 UMLS_CUI:C0021831 disease_ontology A gastrointestinal system disease that is located_in the intestine. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract liver leiomyosarcoma A leiomyosarcoma and sarcoma of liver that is located_in the liver. DOID:5296 NCI:C5756 UMLS_CUI:C1333969 disease_ontology leiomyosarcoma of the Liver A leiomyosarcoma and sarcoma of liver that is located_in the liver. url:http://www.cancer.gov/dictionary/?CdrID=46027 NCI2004_11_17:C5756 leiomyosarcoma of the Liver rectum leiomyosarcoma A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. DOID:5297 NCI:C5549 UMLS_CUI:C1335683 disease_ontology leiomyosarcoma of rectum NCI2004_11_17:C5549 leiomyosarcoma of rectum A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm endometrial clear cell adenocarcinoma Clear cell carcinoma of Endometrium DOID:5299 NCI:C8028 UMLS_CUI:C0279765 disease_ontology Clear cell carcinoma of Endometrium NCI2004_11_17:C8028 pituitary gland disease An endocrine system disease that is located_in the pituitary gland. DOID:2445 DOID:53 DOID:8713 DOID:8714 ICD9CM:253.1 UMLS_CUI:C0029493 disease_ontology pituitary disease An endocrine system disease that is located_in the pituitary gland. url:http://en.wikipedia.org/wiki/Pituitary_disease eyelid disease An adnexa disease that is located_in the eyelid. DOID:530 ICD10CM:H02.9 ICD9CM:374.9 MSH:D005141 NCI:C26768 SNOMEDCT_US_2015_03_01:155180006 SNOMEDCT_US_2015_03_01:193970000 SNOMEDCT_US_2015_03_01:267737009 SNOMEDCT_US_2015_03_01:60113004 UMLS_CUI:C0015423 disease_ontology An adnexa disease that is located_in the eyelid. url:http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit fallopian tube clear cell adenocarcinoma Clear cell carcinoma of the fallopian tube DOID:5301 NCI:C6280 UMLS_CUI:C1333591 disease_ontology Clear cell carcinoma of the fallopian tube NCI2004_11_17:C6280 uterine ligament clear cell adenocarcinoma DOID:5302 NCI:C40139 UMLS_CUI:C1519867 disease_ontology cervical clear cell adenocarcinoma Clear cell carcinoma of the Cervix Uteri DOID:5303 NCI:C6344 UMLS_CUI:C1332912 disease_ontology Clear cell carcinoma of the Cervix Uteri NCI2004_11_17:C6344 ovarian clear cell adenocarcinoma DOID:5304 NCI:C40078 UMLS_CUI:C1518693 disease_ontology malignant ovarian clear cell neoplasm DOID:5305 disease_ontology true bladder clear cell adenocarcinoma DOID:5306 NCI:C6179 UMLS_CUI:C1332557 bladder Mesonephric adenocarcinoma clear cell adenocarcinoma of bladder disease_ontology NCI2004_11_17:C6179 bladder Mesonephric adenocarcinoma urethra clear cell adenocarcinoma Clear cell adenocarcinoma of the urethra DOID:5307 NCI:C6172 UMLS_CUI:C1336886 disease_ontology Clear cell adenocarcinoma of the urethra NCI2004_11_17:C6172 ampulla of Vater clear cell adenocarcinoma DOID:5308 NCI:C27414 UMLS_CUI:C1332246 disease_ontology epithelial-myoepithelial carcinoma DOID:5309 NCI:C4199 SNOMEDCT_US_2015_03_01:189722008 SNOMEDCT_US_2015_03_01:9618003 UMLS_CUI:C0334392 disease_ontology glycogen-rich clear cell breast carcinoma DOID:5310 DOID:5311 Glycogen-Rich carcinoma Glycogen-rich carcinoma (morphologic abnormality) NCI:C40368 NCI:C4153 SNOMEDCT_US_2015_03_01:189656007 SNOMEDCT_US_2015_03_01:74280008 UMLS_CUI:C0334319 UMLS_CUI:C1512224 disease_ontology glycogen-rich carcinoma Glycogen-rich carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:74280008 Glycogen-Rich carcinoma NCI2004_11_17:C4153 miscellaneous mesenchymal neoplasm DOID:5312 disease_ontology true vulvar alveolar soft part sarcoma An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. DOID:5313 NCI:C40320 UMLS_CUI:C1520069 disease_ontology An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. url:http://www.ncbi.nlm.nih.gov/pubmed/7060986 alveolar soft part sarcoma recurrent An alveolar soft part sarcoma that recurs over time. DOID:5314 disease_ontology relapsed Alveolar soft Part sarcoma true An alveolar soft part sarcoma that recurs over time. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html NCI2004_11_17:C8798 relapsed Alveolar soft Part sarcoma alveolar soft part sarcoma nonmetastatic An alveolar soft part sarcoma that has not spread to other parts of the body. DOID:5316 Non-metastatic Alveolar soft Part sarcoma disease_ontology true NCI2004_11_17:C8797 Non-metastatic Alveolar soft Part sarcoma An alveolar soft part sarcoma that has not spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html alveolar soft part sarcoma metastatic An alveolar soft part sarcoma that has spread to other parts of the body. DOID:5317 disease_ontology true An alveolar soft part sarcoma that has spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html fallopian tube serous tumor DOID:5323 disease_ontology true fallopian tube germ cell cancer DOID:5324 NCI:C40130 UMLS_CUI:C1517114 disease_ontology fallopian tube germ cell neoplasm Roberts syndrome DOID:5325 LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE MSH:C535687 NCI:C4681 OMIM mapping confirmed by DO. [SN]. OMIM:268300 SNOMEDCT_US_2015_03_01:48718006 UMLS_CUI:C0392475 disease_ontology Partial recent retinal detachment with single defect DOID:5326 Partial recent retinal detachment with single defect (disorder) Recent retinal detachment, partial, with single defect disease_ontology true ICD9CM_2006:361.01 Recent retinal detachment, partial, with single defect Partial recent retinal detachment with single defect (disorder) SNOMEDCT_2005_07_31:3598000 retinal detachment DOID:5327 ICD10CM:H33.2 ICD9CM:361.9 MSH:D012163 NCI:C26874 OMIM mapping confirmed by DO. [SN]. OMIM:312530 SNOMEDCT_US_2015_03_01:155103005 SNOMEDCT_US_2015_03_01:193347002 SNOMEDCT_US_2015_03_01:42059000 UMLS_CUI:C0035305 disease_ontology retinal detachment and defect DOID:5328 Retinal detachment with defect NOS (disorder) Retinal detachment with retinal defect Retinal detachment with retinal defect (disorder) Retinal detachment with retinal defect, unspecified Unspecified retinal detachment with retinal defect (disorder) disease_ontology true SNOMEDCT_2005_07_31:193318009 Unspecified retinal detachment with retinal defect (disorder) Retinal detachment with defect NOS (disorder) SNOMEDCT_2005_07_31:193328000 ICD9CM_2006:361.0 Retinal detachment with retinal defect ICD9CM_2006:361.00 Retinal detachment with retinal defect, unspecified Retinal detachment with retinal defect (disorder) SNOMEDCT_2005_07_31:56202001 thymus gland disease DOID:11024 DOID:533 ICD10CM:E32 ICD10CM:E32.9 ICD9CM:254 ICD9CM:254.9 NCI:C26962 SNOMEDCT_US_2015_03_01:154703006 SNOMEDCT_US_2015_03_01:190500009 SNOMEDCT_US_2015_03_01:20673009 SNOMEDCT_US_2015_03_01:267482009 UMLS_CUI:C0154199 disease of thymus gland disease_ontology dental pulp disease DOID:5330 Dental pulp disorder MSH:D003788 NCI:C34530 SNOMEDCT_US_2015_03_01:57203004 UMLS_CUI:C0011405 disease_ontology disorder of pulp of tooth (disorder) pulp disorder CSP2005:0834-4423 pulp disorder SNOMEDCT_2005_07_31:57203004 disorder of pulp of tooth (disorder) Dental pulp disorder NCI2004_11_17:C34530 testicular granulosa cell tumor DOID:5331 Granulosa cell tumor of testis NCI:C6357 UMLS_CUI:C1336709 disease_ontology Granulosa cell tumor of testis NCI2004_11_17:C6357 paraphimosis DOID:5334 ICD10CM:N47.2 MSH:D010263 NCI:C34893 Paraphimosis (disorder) SNOMEDCT_US_2015_03_01:13758004 SNOMEDCT_US_2015_03_01:155922002 UMLS_CUI:C0030483 disease_ontology Paraphimosis (disorder) SNOMEDCT_2005_07_31:13758004 renal neoplasm with t(6;11)(p21;q12) DOID:5335 disease_ontology true epulis DOID:5337 Epulis (morphologic abnormality) Gingival polyp Gingival polyp (disorder) MSH:D005882 NCI:C3948 SNOMEDCT_US_2015_03_01:45676007 SNOMEDCT_US_2015_03_01:71708001 UMLS_CUI:C0266919 disease_ontology epulides polyp of Gum Gingival polyp (disorder) SNOMEDCT_2005_07_31:45676007 Epulis (morphologic abnormality) SNOMEDCT_2005_07_31:71708001 Gingival polyp MTHICD9_2006:523.8 NCI2004_11_17:C3948 polyp of Gum gingival hypertrophy DOID:5338 MSH:D005886 SNOMEDCT_US_2015_03_01:441787004 SNOMEDCT_US_2015_03_01:54711002 UMLS_CUI:C0017567 disease_ontology hypertrophy of gingivae SNOMEDCT_2005_07_31:54711002 hypertrophy of gingivae cyclic hematopoiesis Cyclic Hematopoiesis Cyclic neutropenia (disorder) Cyclical neutropenia Cyclical neutropenia (disorder) DOID:5339 ICD10CM:D70.4 ICD9CM:288.02 MSH:C536227 NCI:C3820 Neutropenia, periodic OMIM mapping confirmed by DO. [SN]. OMIM:162800 SNOMEDCT_US_2015_03_01:191347008 SNOMEDCT_US_2015_03_01:234575007 SNOMEDCT_US_2015_03_01:69295006 UMLS_CUI:C0221023 cyclic agranulocytosis disease_ontology Cyclical neutropenia SNOMEDCT_2005_07_31:234575007 MTHICD9_2006:288.0 Neutropenia, periodic Cyclical neutropenia (disorder) SNOMEDCT_2005_07_31:191347008 Cyclic Hematopoiesis NCI2004_11_17:C3820 Cyclic neutropenia (disorder) SNOMEDCT_2005_07_31:69295006 persistent disorder of initiating or maintaining wakefulness DOID:534 disease_ontology true anterograde amnesia An amnestic disorder that involves the impaired or lost ability to memorize new things. DOID:5340 ICD10CM:R41.1 MSH:D020324 SNOMEDCT_US_2015_03_01:206789002 SNOMEDCT_US_2015_03_01:88822006 UMLS_CUI:C0233795 disease_ontology An amnestic disorder that involves the impaired or lost ability to memorize new things. url:http://en.wikipedia.org/wiki/Amnesia pineal region yolk sac tumor DOID:5341 NCI:C6752 Pineal Region Yolk Sac neoplasm UMLS_CUI:C1335420 disease_ontology NCI2004_11_17:C6752 Pineal Region Yolk Sac neoplasm childhood endodermal sinus tumor An endodermal sinus tumor that occurs in children. DOID:5342 NCI:C27364 UMLS_CUI:C1333016 childhood endodermal sinus neoplasm disease_ontology pediatric Yolk Sac tumor NCI2004_11_17:C27364 pediatric Yolk Sac tumor An endodermal sinus tumor that occurs in children. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor central nervous system endodermal sinus tumor DOID:5343 DOID:6051 NCI:C6209 NCI:C7011 UMLS_CUI:C1337040 UMLS_CUI:C1377613 Yolk Sac tumor of the CNS childhood central nervous system endodermal sinus neoplasm disease_ontology pediatric central nervous system Yolk Sac tumor NCI2004_11_17:C7011 Yolk Sac tumor of the CNS NCI2004_11_17:C6209 pediatric central nervous system Yolk Sac tumor testicular yolk sac tumor DOID:5344 NCI:C8000 UMLS_CUI:C0279708 disease_ontology testicular Yolk Sac neoplasm NCI2004_11_17:C8000 testicular Yolk Sac neoplasm testicular non-seminomatous germ cell cancer DOID:5345 NCI:C5027 UMLS_CUI:C1334625 disease_ontology malignant Non-Seminomatous germ cell tumor of testis NCI2004_11_17:C5027 malignant Non-Seminomatous germ cell tumor of testis mediastinal endodermal sinus tumor DOID:5346 Yolk Sac tumor of mediastinum disease_ontology mediastinal endodermal sinus neoplasm true NCI2004_11_17:C6443 Yolk Sac tumor of mediastinum mediastinal non-seminomatous germ cell cancer DOID:5347 Non-Seminomatous malignant germ cell tumor of mediastinum disease_ontology true NCI2004_11_17:C6439 Non-Seminomatous malignant germ cell tumor of mediastinum adult endodermal sinus tumor An endodermal sinus tumor that occurs in adults. DOID:5348 NCI:C27241 UMLS_CUI:C1332221 adult Yolk Sac neoplasm adult endodermal sinus neoplasm disease_ontology NCI2004_11_17:C27241 adult Yolk Sac neoplasm An endodermal sinus tumor that occurs in adults. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor central nervous system adult germ cell tumor DOID:5349 NCI:C6285 UMLS_CUI:C0280796 disease_ontology germ cell tumor of the adult CNS NCI2004_11_17:C6285 germ cell tumor of the adult CNS sleep disorder A disease of mental health that involves disruption of sleep patterns. DOID:535 DOID:9028 ICD9CM:307.4 Non-organic sleep disorder UMLS_CUI:C0154564 disease_ontology Non-organic sleep disorder SNOMEDCT_2005_07_31:192453005 A disease of mental health that involves disruption of sleep patterns. url:http://en.wikipedia.org/wiki/Sleep_disorder ovarian endodermal sinus tumor DOID:5350 Endodermal sinus tumor of ovary (disorder) NCI:C8107 Ovarian Yolk Sac tumor SNOMEDCT_US_2015_03_01:254876005 UMLS_CUI:C0346188 disease_ontology Endodermal sinus tumor of ovary (disorder) SNOMEDCT_2005_07_31:254876005 NCI2004_11_17:C8107 Ovarian Yolk Sac tumor ovarian primitive germ cell tumor DOID:5351 NCI:C39986 UMLS_CUI:C1518727 disease_ontology colonic disease DOID:10758 DOID:5353 MSH:D003108 SNOMEDCT_US_2015_03_01:128524007 UMLS_CUI:C0009373 colon disorder disease_ontology CSP2005:1248-3971 colon disorder lung PAP-AD DOID:5354 disease_ontology true mucinous bronchioloalveolar lung carcinoma DOID:5355 disease_ontology mucinous Bronchoalveolar lung carcinoma true NCI2004_11_17:C7268 mucinous Bronchoalveolar lung carcinoma non-mucinous bronchioloalveolar lung carcinoma DOID:5358 Non-mucinous Bronchoalveolar lung carcinoma disease_ontology true NCI2004_11_17:C7269 Non-mucinous Bronchoalveolar lung carcinoma pure BAC DOID:5359 disease_ontology true persistent disorder of initiating or maintaining sleep DOID:536 disease_ontology true AD-BAC DOID:5360 disease_ontology true mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma DOID:5361 disease_ontology mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma true NCI2004_11_17:C7270 mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma focal epithelial hyperplasia A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. DOID:5362 Heck disease Heck's disease MSH:D017573 Multifocal epithelial hyperplasia NCI:C97083 OMIM mapping confirmed by DO. [SN]. OMIM:229045 SNOMEDCT_US_2015_03_01:36949004 SNOMEDCT_US_2015_03_01:6121001 UMLS_CUI:C0206067 disease_ontology Multifocal epithelial hyperplasia SNOMEDCT_2005_07_31:6121001 A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. url:http://www.ams.ac.ir/aim/010131/0012.pdf myxoid liposarcoma DOID:5363 MSH:D018208 Myxoid Liposarcoma Myxoid liposarcoma (disorder) Myxoid liposarcoma (morphologic abnormality) NCI:C3735 OMIM mapping confirmed by DO. [SN]. OMIM:613488 SNOMEDCT_US_2015_03_01:27849002 SNOMEDCT_US_2015_03_01:404069006 UMLS_CUI:C0206634 disease_ontology Myxoid Liposarcoma NCI2004_11_17:C3735 Myxoid liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:27849002 Myxoid liposarcoma (disorder) SNOMEDCT_2005_07_31:404069006 pulmonary coin lesion Coin lesion lung Coin lesion of lung Coin lesion of lung (context-dependent category) Coin lesion of lung (finding) DOID:5364 ICD10CM:R91.1 MSH:D003074 SNOMEDCT_US_2015_03_01:158600006 SNOMEDCT_US_2015_03_01:207405001 SNOMEDCT_US_2015_03_01:308689002 UMLS_CUI:C0009250 disease_ontology Coin lesion lung MTHICD9_2006:793.1 Coin lesion of lung (finding) SNOMEDCT_2005_07_31:308689002 Coin lesion of lung (context-dependent category) SNOMEDCT_2005_07_31:207405001 Coin lesion of lung SNOMEDCT_2005_07_31:158600006 Wolffian duct adenocarcinoma DOID:5368 NCI:C40254 UMLS_CUI:C1516419 disease_ontology ovine progressive interstitial pneumonia A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. DOID:5369 disease_ontology progressive interstitial pneumonia of sheep progressive pneumonia of sheep (disorder) true A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm SNOMEDCT_2005_07_31:48722001 progressive pneumonia of sheep (disorder) breast hemangiopericytoma A hemangiopericytoma that is manifested in the breast. DOID:5370 NCI:C40396 UMLS_CUI:C1511313 disease_ontology A hemangiopericytoma that is manifested in the breast. url:http://www.jaoa.org/cgi/content/abstract/91/6/606 retroperitoneal hemangiopericytoma DOID:5373 NCI:C5386 UMLS_CUI:C1335777 disease_ontology pilomatrixoma DOID:5374 DOID:5377 MSH:D018296 NCI:C7368 OMIM mapping confirmed by DO. [SN]. OMIM:132600 Pilomatricoma Pilomatrixoma (disorder) Pilomatrixoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:274901004 SNOMEDCT_US_2015_03_01:44155009 UMLS_CUI:C0206711 benign pilomatricoma disease_ontology Pilomatrixoma (morphologic abnormality) SNOMEDCT_2005_07_31:44155009 Pilomatrixoma (disorder) SNOMEDCT_2005_07_31:274901004 NCI2004_11_17:C7368 Pilomatricoma hair follicle neoplasm DOID:5375 Hair Matrix neoplasm Hair matrix tumour NCI:C7367 SNOMEDCT_US_2015_03_01:44155009 UMLS_CUI:C0859920 disease_ontology Hair matrix tumour SNOMEDCT_2005_07_31:44155009 Hair Matrix neoplasm NCI2004_11_17:C7367 skin pilomatrix carcinoma DOID:5376 NCI:C4114 Pilomatricoma, malignant Pilomatrix carcinoma of skin (disorder) SNOMEDCT_US_2015_03_01:24762001 SNOMEDCT_US_2015_03_01:307610008 UMLS_CUI:C0585475 disease_ontology malignant Pilomatricoma pilomatrix carcinoma of skin NCI2004_11_17:C4114 malignant Pilomatricoma Pilomatricoma, malignant SNOMEDCT_2005_07_31:24762001 Pilomatrix carcinoma of skin (disorder) SNOMEDCT_2005_07_31:307610008 hemoglobin D disease DOID:5378 Hb-D disease Hemoglobin D disease Hemoglobin D disease (disorder) ICD10CM:D58.2 NCI:C35344 SNOMEDCT_US_2015_03_01:66729008 UMLS_CUI:C0272080 disease_ontology Hemoglobin D disease (disorder) SNOMEDCT_2005_07_31:66729008 Hemoglobin D disease NCI2004_11_17:C35344 Hb-D disease MTHICD9_2006:282.7 hemoglobin E disease DOID:5379 EFOpat_id:3654 Hb-E disease Hemoglobin E disease Hemoglobin E disease (disorder) ICD10CM:D58.2 NCI:C35287 SNOMEDCT_US_2015_03_01:25065001 UMLS_CUI:C0238159 disease_ontology Hb-E disease MTHICD9_2006:282.7 Hemoglobin E disease (disorder) SNOMEDCT_2005_07_31:25065001 Hemoglobin E disease NCI2004_11_17:C35287 internuclear ophthalmoplegia DOID:538 ICD10CM:H51.2 ICD9CM:378.86 Internuclear ophthalmoplegia Internuclear ophthalmoplegia (disorder) MSH:D015835 SNOMEDCT_US_2015_03_01:49823009 UMLS_CUI:C0152134 disease_ontology Internuclear ophthalmoplegia (disorder) SNOMEDCT_2005_07_31:49823009 ICD9CM_2006:378.86 Internuclear ophthalmoplegia lupus vulgaris DOID:5380 Lupus - tuberculous Lupus exedens Lupus vulgaris Lupus vulgaris (disorder) Tuberculosis - lupus NOS (disorder) disease_ontology lupus tuberculosis true Lupus vulgaris SNOMEDCT_2005_07_31:186249006 CSP2005:0729-7721 lupus tuberculosis Lupus exedens MTHICD9_2006:017.0 SNOMEDCT_2005_07_31:186251005 Tuberculosis - lupus NOS (disorder) Lupus vulgaris (disorder) SNOMEDCT_2005_07_31:10528009 Lupus - tuberculous SNOMEDCT_2005_07_31:186248003 Lupus vulgaris SNOMEDCT_2005_07_31:154290000 bile duct adenoma An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. Cholangioadenoma DOID:5381 MSH:D002759 NCI:C2942 SNOMEDCT_US_2015_03_01:189591008 SNOMEDCT_US_2015_03_01:39471001 SNOMEDCT_US_2015_03_01:424091006 UMLS_CUI:C0008309 bile duct adenoma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:189591008 bile duct adenoma (morphologic abnormality) Cholangioadenoma NCI2004_11_17:C2942 An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/one/000001598.htm SNOMEDCT_2005_07_31:39471001 bile duct adenoma (morphologic abnormality) Bartholin's gland adenoma Bartholin gland adenoma DOID:5382 NCI:C40299 UMLS_CUI:C1511048 disease_ontology bile duct cystadenoma Cystadenoma of the bile duct DOID:5384 NCI:C4129 SNOMEDCT_US_2015_03_01:83025009 UMLS_CUI:C0334285 bile duct cystadenoma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:83025009 bile duct cystadenoma (morphologic abnormality) Cystadenoma of the bile duct NCI2004_11_17:C4129 mixed cell adenoma DOID:5385 NCI:C4157 SNOMEDCT_US_2015_03_01:89773001 UMLS_CUI:C0334323 disease_ontology lung adenoma DOID:5386 NCI:C4455 SNOMEDCT_US_2015_03_01:254642004 UMLS_CUI:C0345964 adenoma of lung (disorder) disease_ontology pulmonary adenoma SNOMEDCT_2005_07_31:254642004 adenoma of lung (disorder) NCI2004_11_17:C4455 pulmonary adenoma middle ear adenoma DOID:5387 NCI:C6834 UMLS_CUI:C1334759 adenoma of middle ear adenoma of the middle ear disease_ontology NCI2004_11_17:C6834 adenoma of the middle ear oxyphilic adenoma DOID:5389 Follicular adenoma, oxyphilic cell MSH:D018249 NCI:C3759 Oncocytoma SNOMEDCT_US_2015_03_01:89439007 UMLS_CUI:C1510502 disease_ontology Follicular adenoma, oxyphilic cell SNOMEDCT_2005_07_31:89439007 NCI2004_11_17:C3759 Oncocytoma ophthalmoplegia DOID:10868 DOID:539 ICD9CM:378.56 MSH:D009886 NCI:C79697 Ophthalmoplegia (disorder) Ophthalmoplegia NOS SNOMEDCT_US_2015_03_01:155196009 SNOMEDCT_US_2015_03_01:16110005 SNOMEDCT_US_2015_03_01:267745004 SNOMEDCT_US_2015_03_01:78097002 Total ophthalmoplegia Total ophthalmoplegia (disorder) UMLS_CUI:C0029089 UMLS_CUI:C0155338 disease_ontology oculomotor paralysis SNOMEDCT_2005_07_31:78097002 Total ophthalmoplegia (disorder) MTHICD9_2006:378.9 Ophthalmoplegia NOS Ophthalmoplegia (disorder) SNOMEDCT_2005_07_31:16110005 CSP2005:1115-2778 oculomotor paralysis Ophthalmoplegia NOS SNOMEDCT_2005_07_31:267745004 Ophthalmoplegia NOS SNOMEDCT_2005_07_31:155196009 clear cell adenoma An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. Clear cell adenoma (morphologic abnormality) DOID:5390 NCI:C4151 SNOMEDCT_US_2015_03_01:1752006 UMLS_CUI:C0334315 disease_ontology An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 Clear cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:1752006 bronchus adenoma Bronchial adenoma Bronchial adenoma NOS (morphologic abnormality) Bronchial adenoma, NOS DOID:5391 NCI:C3494 SNOMEDCT_US_2015_03_01:189617001 SNOMEDCT_US_2015_03_01:24482001 UMLS_CUI:C0149845 adenoma of the bronchus disease_ontology Bronchial adenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189617001 Bronchial adenoma, NOS SNOMEDCT_2005_07_31:24482001 Bronchial adenoma NCI2004_11_17:C3494 acidophil adenoma DOID:5392 Eosinophil adenoma MSH:D000239 NCI:C6780 SNOMEDCT_US_2015_03_01:21109002 UMLS_CUI:C0001433 disease_ontology Eosinophil adenoma NCI2004_11_17:C6780 brain angioma DOID:5393 NCI:C7739 UMLS_CUI:C0238814 disease_ontology prolactinoma DOID:5394 MSH:D015175 NCI:C3342 OMIM mapping confirmed by DO. [SN]. OMIM:600634 PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland SNOMEDCT_US_2015_03_01:134209002 SNOMEDCT_US_2015_03_01:34337008 SNOMEDCT_US_2015_03_01:367098005 UMLS_CUI:C0033375 disease_ontology familial prolactinoma NCI2004_11_17:C3342 Prolactinoma of Pituitary gland functioning pituitary adenoma DOID:5395 NCI:C8388 Secretory adenoma of the Pituitary gland UMLS_CUI:C0854486 disease_ontology NCI2004_11_17:C8388 Secretory adenoma of the Pituitary gland prolactin producing pituitary tumor DOID:5396 DOID:6272 NCI:C5962 NCI:C7910 Prolactin Secreting tumor of Pituitary UMLS_CUI:C0278863 UMLS_CUI:C1334614 disease_ontology malignant Prolactinoma malignant prolactin producing neoplasm of pituitary gland NCI2004_11_17:C5962 malignant Prolactinoma NCI2004_11_17:C7910 Prolactin Secreting tumor of Pituitary ductal adenoma DOID:5397 disease_ontology true lipoadenoma An adenoma that is composed_of adipose tissue. DOID:5398 Lipoadenoma (morphologic abnormality) NCI:C4159 SNOMEDCT_US_2015_03_01:22024005 UMLS_CUI:C0334325 disease_ontology An adenoma that is composed_of adipose tissue. url:http://en.wiktionary.org/wiki/lipoadenoma Lipoadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:22024005 ovine pulmonary adenomatosis A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. DOID:3802 DOID:5399 Jaagziekte (disorder) Tumor Virus Infections disease_ontology ovine pulmonary adenomatosis pulmonary adenomatosis pulmonary adenomatosis (morphologic abnormality) true Jaagziekte (disorder) SNOMEDCT_2005_07_31:7238003 SNOMEDCT_2005_07_31:32434004 pulmonary adenomatosis (morphologic abnormality) A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf NCI2004_11_17:C3763 pulmonary adenomatosis strabismus DOID:540 ICD10CM:H50.8 ICD10CM:H50.89 ICD9CM:378.7 SNOMEDCT_US_2015_03_01:194125000 SNOMEDCT_US_2015_03_01:194128003 SNOMEDCT_US_2015_03_01:194651002 UMLS_CUI:C0029831 disease_ontology trabecular adenoma DOID:5400 Trabecular adenoma Trabecular adenoma (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:21930005 Trabecular adenoma (morphologic abnormality) NCI2004_11_17:C3688 Trabecular adenoma water-clear cell adenoma An adenoma that derives_from epithelial cells which have clear cytoplasm. DOID:5401 NCI:C4155 SNOMEDCT_US_2015_03_01:26638004 UMLS_CUI:C0334321 Water-clear cell adenoma (morphologic abnormality) disease_ontology An adenoma that derives_from epithelial cells which have clear cytoplasm. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 SNOMEDCT_2005_07_31:26638004 Water-clear cell adenoma (morphologic abnormality) vaginal adenoma DOID:5402 NCI:C40256 UMLS_CUI:C1519913 disease_ontology microcystic adenoma DOID:5403 MSH:D000236 Microcystic adenoma Microcystic adenoma (morphologic abnormality) NCI:C3685 SNOMEDCT_US_2015_03_01:189580001 SNOMEDCT_US_2015_03_01:79494009 UMLS_CUI:C0205648 disease_ontology Microcystic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:79494009 Microcystic adenoma SNOMEDCT_2005_07_31:189580001 Microcystic adenoma NCI2004_11_17:C3685 atypical adenoma Atypical adenoma (morphologic abnormality) DOID:5404 disease_ontology true Atypical adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:24482001 Paget's disease of bone A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. DOID:5408 EFO:0004261 Familial Paget's disease of bone ICD10CM:M88 MSH:D010001 NCI:C3292 OMIM:167250 OMIM:602080 OMIM:606263 ORDO:280110 PAGET'S BONE DISEASE Paget disease of bone SNOMEDCT_US_2015_03_01:156811005 SNOMEDCT_US_2015_03_01:156812003 SNOMEDCT_US_2015_03_01:203353000 SNOMEDCT_US_2015_03_01:203354006 SNOMEDCT_US_2015_03_01:2089002 UMLS_CUI:C0029401 Xref MGI. MSH:C538098 added from NeuroDevNet [WAK]. disease_ontology osseous Paget's disease osteitis deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. url:http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=A00076 url:http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 url:http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html Familial Paget's disease of bone MSH:C538098 MTH:547 PAGET'S BONE DISEASE NCI2004_11_17:C3292 osseous Paget's disease lung small cell carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. DOID:5409 KEGG:05222 MSH:D055752 NCI:C4917 OMIM mapping confirmed by DO. [SN]. OMIM:182280 Oat cell carcinoma of lung (disorder) SCLC SNOMEDCT_US_2015_03_01:254632001 SNOMEDCT_US_2015_03_01:254633006 UMLS_CUI:C0149925 disease_ontology small cell carcinoma of lung small cell carcinoma of lung (disorder) small cell neuroendocrine carcinoma of lung Oat cell carcinoma of lung (disorder) SNOMEDCT_2005_07_31:254633006 SNOMEDCT_2005_07_31:254632001 small cell carcinoma of lung (disorder) A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. url:http://en.wikipedia.org/wiki/Small-cell_carcinoma NCI2004_11_17:C4917 small cell neuroendocrine carcinoma of lung CSP2005:2017-6589 SCLC convergence insufficiency or palsy DOID:541 disease_ontology true pulmonary neuroendocrine tumor DOID:5410 NCI:C5670 SNOMEDCT_US_2015_03_01:707594002 UMLS_CUI:C1334452 disease_ontology lung oat cell carcinoma DOID:5411 MSH:D018288 NCI:C3915 Oat cell carcinoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:189555001 SNOMEDCT_US_2015_03_01:74364000 SNOMEDCT_US_2015_03_01:76817009 UMLS_CUI:C0262584 disease_ontology oat cell carcinoma poorly differentiated Endocrine neoplasm NCI2004_11_17:C3915 poorly differentiated Endocrine neoplasm CSP2005:2017-6589 oat cell carcinoma Oat cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:76817009 lung occult small cell carcinoma DOID:5414 NCI:C6683 Occult small cell carcinoma of the lung UMLS_CUI:C1335099 disease_ontology occult small cell carcinoma of lung NCI2004_11_17:C6683 Occult small cell carcinoma of the lung recurrent small cell lung cancer DOID:5416 disease_ontology relapsed small cell carcinoma of the lung true NCI2004_11_17:C9050 relapsed small cell carcinoma of the lung schizoaffective disorder A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. DOID:5418 ICD10CM:F25 ICD10CM:F25.9 ICD9CM:295.7 MSH:D011618 NCI:C94378 SNOMEDCT_US_2015_03_01:191567000 SNOMEDCT_US_2015_03_01:191568005 SNOMEDCT_US_2015_03_01:191575006 SNOMEDCT_US_2015_03_01:192345003 SNOMEDCT_US_2015_03_01:231490005 SNOMEDCT_US_2015_03_01:68890003 UMLS_CUI:C0036337 disease_ontology A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. url:http://en.wikipedia.org/wiki/Schizoaffective_disorder url:http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 DOID:5419 EFO:0000692 HP:0100753 ICD9CM:295.8 ICD9CM:295.80 OMIM:181500 OMIM:181510 OMIM:600511 OMIM:600850 OMIM:603013 OMIM:603175 OMIM:603176 OMIM:603206 OMIM:603342 OMIM:604906 OMIM:605419 OMIM:608078 OMIM:608543 OMIM:612361 OMIM:613025 OMIM:613950 OMIM:613959 OMIM:615232 UMLS_CUI:C0029838 UMLS_CUI:C0220702 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology schizophrenia-1 A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. url:http://en.wikipedia.org/wiki/Schizophrenia lung combined type small cell carcinoma A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. Combined small cell carcinoma of the lung DOID:5421 NCI:C9137 UMLS_CUI:C1333125 combined type small cell carcinoma of lung disease_ontology Combined small cell carcinoma of the lung NCI2004_11_17:C9137 A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma combined carcinoma of lung Combined carcinoma of the lung DOID:5422 disease_ontology true Combined carcinoma of the lung NCI2004_11_17:C7591 central nervous system hemangioblastoma DOID:5423 Hemangioblastoma of the CNS disease_ontology true Hemangioblastoma of the CNS NCI2004_11_17:C7007 ovarian hyperstimulation syndrome DOID:5425 MSH:D016471 OMIM mapping confirmed by DO. [SN]. OMIM:608115 SNOMEDCT_US_2015_03_01:129635004 UMLS_CUI:C0085083 disease_ontology secondary Meig's syndrome SNOMEDCT_2005_07_31:129635004 secondary Meig's syndrome premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. DOID:5426 MSH:D016649 OMIM:300510 OMIM:300511 OMIM:300604 OMIM:311360 OMIM:608996 OMIM:611548 OMIM:612310 OMIM:612964 OMIM:615723 OMIM:615724 ORDO:619 SNOMEDCT_US_2015_03_01:237788002 UMLS_CUI:C0085215 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology hypergonadotropic hypogonadism premature menopause premature ovarian insufficiency primary ovarian insufficiency An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. url:http://en.wikipedia.org/wiki/Premature_ovarian_failure url:http://www.merckmanuals.com/professional/gynecology_and_obstetrics/menstrual_abnormalities/premature_ovarian_insufficiency_or_failure.html urinary bladder villous adenoma DOID:5427 NCI:C7414 UMLS_CUI:C1336893 disease_ontology villous adenoma of urinary bladder NCI2004_11_17:C7414 villous adenoma of urinary bladder bladder flat intraepithelial lesion DOID:5429 Flat Intraepithelial Lesion of the urinary bladder NCI:C37266 UMLS_CUI:C1332559 disease_ontology Flat Intraepithelial Lesion of the urinary bladder NCI2004_11_17:C37266 dystonia DOID:543 DOID:544 ICD10CM:G24 ICD10CM:G24.9 MSH:D004421 MSH:D020821 NCI:C34563 SNOMEDCT_US_2015_03_01:15802004 SNOMEDCT_US_2015_03_01:192863009 SNOMEDCT_US_2015_03_01:194478005 SNOMEDCT_US_2015_03_01:250068003 UMLS_CUI:C0013421 UMLS_CUI:C0393593 disease_ontology dystonic disease intraurothelial neoplasia DOID:5430 disease_ontology true bladder papillary transitional cell neoplasm DOID:5432 NCI:C39857 UMLS_CUI:C1511197 disease_ontology urinary bladder Papillary Urothelial neoplasm NCI2004_11_17:C39857 urinary bladder Papillary Urothelial neoplasm urinary tract papillary transitional cell benign neoplasm DOID:5433 DOID:6120 Inverted papilloma of urinary tract NCI:C27883 NCI:C6192 Papillary transitional cell neoplasm of the urinary tract UMLS_CUI:C1334282 UMLS_CUI:C1335329 disease_ontology urinary tract inverted papilloma NCI2004_11_17:C27883 Papillary transitional cell neoplasm of the urinary tract Inverted papilloma of urinary tract NCI2004_11_17:C6192 scrapie DOID:5434 MSH:D012608 SNOMEDCT_US_2015_03_01:35103004 UMLS_CUI:C0036457 disease_ontology variant Creutzfeldt-Jakob disease Bovine spongiform encephalopathy (disorder) DOID:5435 MSH:D016643 SNOMEDCT_US_2015_03_01:52869003 UMLS_CUI:C0085209 bovine spongiform encephalopathy disease_ontology Bovine spongiform encephalopathy (disorder) SNOMEDCT_2005_07_31:52869003 intrahepatic bile duct adenoma DOID:5437 NCI:C7126 UMLS_CUI:C1331535 adenoma of intrahepatic bile duct adenoma of the Intrahepatic bile duct disease_ontology NCI2004_11_17:C7126 adenoma of the Intrahepatic bile duct extrahepatic bile duct adenoma A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. DOID:5438 NCI:C5857 UMLS_CUI:C1331534 adenoma of extrahepatic bile duct adenoma of the extrahepatic bile duct disease_ontology A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. url:http://www.joplink.net/prev/200803/08.html NCI2004_11_17:C5857 adenoma of the extrahepatic bile duct papillary hidradenoma DOID:5439 NCI:C4171 SNOMEDCT_US_2015_03_01:134157002 SNOMEDCT_US_2015_03_01:307597000 SNOMEDCT_US_2015_03_01:89791006 UMLS_CUI:C0334348 disease_ontology eccrine acrospiroma DOID:5442 Eccrine acrospiroma Eccrine hidradenoma (disorder) Eccrine hidradenoma of skin MSH:D018250 NCI:C7568 Poroma (Acrospiroma) SNOMEDCT_US_2015_03_01:253020008 SNOMEDCT_US_2015_03_01:254719003 SNOMEDCT_US_2015_03_01:400099008 SNOMEDCT_US_2015_03_01:81143000 SNOMEDCT_US_2015_03_01:81393009 UMLS_CUI:C0206671 disease_ontology Eccrine hidradenoma (disorder) SNOMEDCT_2005_07_31:254719003 Eccrine hidradenoma of skin SNOMEDCT_2005_07_31:400099008 NCI2004_11_17:C27273 Poroma (Acrospiroma) Eccrine acrospiroma SNOMEDCT_2005_07_31:81143000 clear cell hidradenoma Clear cell Hidradenoma Clear cell hidradenoma (morphologic abnormality) Clear cell myoepithelioma DOID:5443 NCI:C7567 SNOMEDCT_US_2015_03_01:254719003 SNOMEDCT_US_2015_03_01:400099008 SNOMEDCT_US_2015_03_01:81143000 UMLS_CUI:C1370701 disease_ontology Clear cell Hidradenoma NCI2004_11_17:C7567 Clear cell hidradenoma (morphologic abnormality) SNOMEDCT_2005_07_31:81143000 Clear cell myoepithelioma SNOMEDCT_2005_07_31:400099008 Clear cell myoepithelioma SNOMEDCT_2005_07_31:254719003 spiradenoma DOID:1617 DOID:5444 Eccrine spiradenoma (morphologic abnormality) Eccrine spiradenoma of skin NCI:C4170 SNOMEDCT_US_2015_03_01:403938001 SNOMEDCT_US_2015_03_01:4977000 UMLS_CUI:C0334347 benign eccrine spiradenoma disease_ontology Eccrine spiradenoma of skin SNOMEDCT_2005_07_31:403938001 Eccrine spiradenoma (morphologic abnormality) SNOMEDCT_2005_07_31:4977000 syringocystadenoma papilliferum DOID:5445 NCI:C4172 Papillary Syringadenoma (Syringocystadenoma Papilliferum) Papillary syringadenoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:239121009 SNOMEDCT_US_2015_03_01:8934006 Syringocystadenoma papilliferum (disorder) UMLS_CUI:C0406803 disease_ontology NCI2004_11_17:C4172 Papillary Syringadenoma (Syringocystadenoma Papilliferum) Papillary syringadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8934006 SNOMEDCT_2005_07_31:239121009 Syringocystadenoma papilliferum (disorder) eccrine papillary adenoma Eccrine papillary adenoma (morphologic abnormality) DOID:5446 Eccrine papillary adenoma (morphologic abnormality) Eccrine papillary adenoma morphology (morphologic abnormality) Eccrine papillary adenoma of skin (disorder) NCI:C4173 SNOMEDCT_US_2015_03_01:10060008 SNOMEDCT_US_2015_03_01:134345002 SNOMEDCT_US_2015_03_01:189674003 SNOMEDCT_US_2015_03_01:253021007 UMLS_CUI:C0334350 disease_ontology Eccrine papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:10060008 Eccrine papillary adenoma of skin (disorder) SNOMEDCT_2005_07_31:253021007 Eccrine papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189674003 Eccrine papillary adenoma morphology (morphologic abnormality) SNOMEDCT_2005_07_31:134345002 pulmonary venoocclusive disease DOID:5453 MSH:D011668 NCI:C85039 OMIM mapping confirmed by DO. [SN]. OMIM:265450 SNOMEDCT_US_2015_03_01:89420002 UMLS_CUI:C0034091 disease_ontology pulmonary veno-occlusive disease (disorder) SNOMEDCT_2005_07_31:89420002 pulmonary veno-occlusive disease (disorder) pulmonary vascular disorder DOID:5455 disease_ontology true spinal vascular disorder DOID:5456 disease_ontology true laryngeal neuroendocrine tumor DOID:5457 NCI:C6023 SNOMEDCT_US_2015_03_01:707625001 UMLS_CUI:C1334374 disease_ontology neuroendocrine tumor of Larynx NCI2004_11_17:C6023 neuroendocrine tumor of Larynx contagious pleuropneumonia A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). DOID:5460 disease_ontology true A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia primary Mycoplasma infectious disease DOID:5461 Eaton's agent infection (disorder) Mycoplasma infection (disorder) Mycoplasma infection with Eaton's agent Mycoplasma infection, unspecified (disorder) Mycoplasmosis (disorder) disease caused by Mycoplasma [Ambiguous] disease caused by Mycoplasma, NOS disease_ontology true MTHICD9_2006:041.81 Mycoplasma infection with Eaton's agent SNOMEDCT_2005_07_31:59846002 disease caused by Mycoplasma [Ambiguous] SNOMEDCT_2005_07_31:367480000 disease caused by Mycoplasma, NOS Mycoplasmosis (disorder) SNOMEDCT_2005_07_31:174536008 Mycoplasma infection, unspecified (disorder) SNOMEDCT_2005_07_31:187345008 Mycoplasma infection (disorder) SNOMEDCT_2005_07_31:186464008 Eaton's agent infection (disorder) SNOMEDCT_2005_07_31:186462007 African swine fever A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. African swine fever African swine fever (disorder) DOID:5462 disease_ontology swine hemorrhagic fever true African swine fever MTH:NOCODE African swine fever (disorder) SNOMEDCT_2005_07_31:31713007 A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. url:http://en.wikipedia.org/wiki/African_swine_fever url:http://www.oie.int/eng/maladies/fiches/a_A120.htm cochlear disease DOID:5463 MSH:D015834 UMLS_CUI:C0009197 disease_ontology conjunctival intraepithelial neoplasm DOID:5465 Intraepithelial Neoplasia of Conjunctiva NCI:C6120 SNOMEDCT_US_2015_03_01:418134006 UMLS_CUI:C1333148 disease_ontology Intraepithelial Neoplasia of Conjunctiva NCI2004_11_17:C6120 conjunctival cancer Conjunctival tumor DOID:1750 DOID:5467 ICD10CM:C69.0 ICD9CM:190.3 MSH:D003230 NCI:C2961 NCI:C3564 SNOMEDCT_US_2015_03_01:126996004 SNOMEDCT_US_2015_03_01:363463000 SNOMEDCT_US_2015_03_01:93764002 UMLS_CUI:C0009761 UMLS_CUI:C0153628 disease_ontology malignant Conjunctival tumor malignant neoplasm of conjunctiva malignant neoplasm of conjunctiva (primary) malignant tumor of conjunctiva (disorder) neoplasm of conjunctiva NCI2004_11_17:C3564 malignant Conjunctival tumor SNOMEDCT_2005_07_31:363463000 malignant tumor of conjunctiva (disorder) Conjunctival tumor NCI2004_11_17:C2961 SNOMEDCT_2005_07_31:93764002 malignant neoplasm of conjunctiva (primary) SNOMEDCT_2005_07_31:126996004 neoplasm of conjunctiva biliary papillomatosis A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. DOID:5468 NCI:C65198 SNOMEDCT_US_2015_03_01:128663007 UMLS_CUI:C1266038 bile duct papillomatosis disease_ontology NCI2004_11_17:C6881 bile duct papillomatosis A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. url:http://www.ncbi.nlm.nih.gov/pubmed/21988050 biliary tract intraductal papillary mucinous neoplasm DOID:5469 NCI:C37215 disease_ontology tumor of the thecoma fibroma group DOID:5472 disease_ontology true ovarian serous adenofibroma DOID:5474 NCI:C40031 UMLS_CUI:C1518729 disease_ontology uterine corpus adenofibroma DOID:5475 NCI:C6337 UMLS_CUI:C1336901 adenofibroma of Corpus Uteri adenofibroma of uterine corpus disease_ontology NCI2004_11_17:C6337 adenofibroma of Corpus Uteri cervical adenofibroma DOID:5476 NCI:C40230 UMLS_CUI:C1516402 disease_ontology clear cell adenofibroma Clear cell adenofibroma Clear cell adenofibroma (morphologic abnormality) DOID:5477 MSH:D062625 NCI:C8985 NCI:C8987 SNOMEDCT_US_2015_03_01:2962009 SNOMEDCT_US_2015_03_01:58161009 UMLS_CUI:C0334317 disease_ontology Clear cell adenofibroma NCI2004_11_17:C8987 Clear cell adenofibroma (morphologic abnormality) SNOMEDCT_2005_07_31:58161009 fallopian tube adenofibroma DOID:5478 NCI:C40113 UMLS_CUI:C1517109 disease_ontology papillary adenofibroma DOID:5479 NCI:C8986 Papillary adenofibroma SNOMEDCT_US_2015_03_01:2962009 UMLS_CUI:C1377850 disease_ontology Papillary adenofibroma SNOMEDCT_2005_07_31:2962009 malignant hypertensive heart disease DOID:548 disease_ontology malignant hypertensive heart disease (disorder) malignant hypertensive heart disease NOS (disorder) true SNOMEDCT_2005_07_31:54225002 malignant hypertensive heart disease (disorder) SNOMEDCT_2005_07_31:194764008 malignant hypertensive heart disease NOS (disorder) ovarian endometrioid adenofibroma DOID:5480 NCI2009_04D:C27287 disease_ontology cystadenofibroma An adenofibroma that is composed_of epithelial ovarian tissue. Cystadenofibroma, NOS DOID:5482 MSH:D062625 NCI:C8985 NCI:C8987 SNOMEDCT_US_2015_03_01:2962009 SNOMEDCT_US_2015_03_01:58161009 UMLS_CUI:C0334317 disease_ontology Cystadenofibroma, NOS SNOMEDCT_2005_07_31:2962009 An adenofibroma that is composed_of epithelial ovarian tissue. url:http://www.ajronline.org/cgi/content/full/182/5/1259 fibrous synovial sarcoma DOID:5484 NCI:C6533 UMLS_CUI:C1333616 disease_ontology fibrous sarcoma of Synovium NCI2004_11_17:C6533 fibrous sarcoma of Synovium synovial sarcoma A synovium cancer which develops in the synovial membrane of the joints. DOID:5485 MSH:D013584 NCI:C3400 OMIM:300813 OMIM:312820 SNOMEDCT_US_2015_03_01:302851001 SNOMEDCT_US_2015_03_01:63211008 UMLS_CUI:C0039101 Xref MGI. disease_ontology A synovium cancer which develops in the synovial membrane of the joints. url:http://en.wikipedia.org/wiki/Synovial_sarcoma url:http://www.cancer.gov/dictionary?cdrid=44626 metastatic synovial sarcoma DOID:5486 disease_ontology true spindle cell synovial sarcoma DOID:5487 NCI:C4277 SNOMEDCT_US_2015_03_01:37206003 Synovial sarcoma with spindle cell Components Synovial sarcoma, monophasic fibrous UMLS_CUI:C0334505 disease_ontology NCI2004_11_17:C4277 Synovial sarcoma with spindle cell Components SNOMEDCT_2005_07_31:37206003 Synovial sarcoma, monophasic fibrous mediastinum synovial sarcoma A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum. DOID:5488 NCI:C6618 Synovial sarcoma of mediastinum UMLS_CUI:C1334681 disease_ontology NCI2004_11_17:C6618 Synovial sarcoma of mediastinum A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ adult synovial sarcoma An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. DOID:5489 disease_ontology true An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. url:http://sarcomahelp.org/learning_center/synovial_sarcoma.html pediatric synovial sarcoma DOID:5491 disease_ontology true biphasic synovial sarcoma Biphasic sarcoma of Synovium DOID:5492 NCI:C4279 SNOMEDCT_US_2015_03_01:18588008 Synovial sarcoma, biphasic (morphologic abnormality) UMLS_CUI:C0334507 disease_ontology Biphasic sarcoma of Synovium NCI2004_11_17:C4279 SNOMEDCT_2005_07_31:18588008 Synovial sarcoma, biphasic (morphologic abnormality) recurrent synovial sarcoma DOID:5493 disease_ontology relapsed Synovial sarcoma true NCI2004_11_17:C8827 relapsed Synovial sarcoma epithelioid cell synovial sarcoma DOID:5494 NCI:C4278 SNOMEDCT_US_2015_03_01:56422000 Synovial sarcoma, epithelioid cell (morphologic abnormality) UMLS_CUI:C0334506 disease_ontology epithelioid Synovial sarcoma NCI2004_11_17:C4278 epithelioid Synovial sarcoma SNOMEDCT_2005_07_31:56422000 Synovial sarcoma, epithelioid cell (morphologic abnormality) monophasic synovial sarcoma DOID:5495 Monophasic sarcoma of Synovium NCI:C6534 UMLS_CUI:C1334801 disease_ontology Monophasic sarcoma of Synovium NCI2004_11_17:C6534 nonmetastatic synovial sarcoma DOID:5496 Non-metastatic Synovial sarcoma disease_ontology true NCI2004_11_17:C8826 Non-metastatic Synovial sarcoma Hepadnaviridae infectious disease A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. DOID:5497 disease_ontology true A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. url:http://en.wikipedia.org/wiki/Hepadnaviridae cellular ependymoma DOID:5500 MSH:D004806 NCI:C4713 NCI:C4714 SNOMEDCT_US_2015_03_01:253067007 SNOMEDCT_US_2015_03_01:253068002 SNOMEDCT_US_2015_03_01:57706008 UMLS_CUI:C1384403 disease_ontology Pediculus humanus capitis infestation A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. DOID:5501 ICD10CM:B85.0 ICD9CM:132.0 Pediculosis capitis (disorder) Pediculus capitis Pediculus capitis [head louse] Pediculus capitis infestation SNOMEDCT_US_2015_03_01:243682006 SNOMEDCT_US_2015_03_01:271544006 SNOMEDCT_US_2015_03_01:81000006 UMLS_CUI:C0030757 disease_ontology head louse infestation Pediculus capitis SNOMEDCT_2005_07_31:243682006 Pediculosis capitis (disorder) SNOMEDCT_2005_07_31:81000006 ICD9CM_2006:132.0 Pediculus capitis [head louse] SNOMEDCT_2005_07_31:271544006 head louse infestation A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. url:http://en.wikipedia.org/wiki/Head-louse_infestation url:http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm MTHICD9_2006:132.0 Pediculus capitis lice infestation A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. DOID:5490 DOID:5502 DOID:5523 ICD10CM:B85.2 ICD9CM:132.9 Infestation by Pediculus (disorder) Lice infestation, NOS Louse infestation (& [pediculosis and phthirus] or [lice]) Louse infestation (disorder) MSH:D010373 Pediculosis + lice NOS Pediculosis and phthirus infection NOS (disorder) Pediculosis and phthirus infections (disorder) Pediculosis and phthirus infestation Pediculosis, unspecified Pediculosis, unspecified (disorder) SNOMEDCT_US_2015_03_01:154417001 SNOMEDCT_US_2015_03_01:187207005 SNOMEDCT_US_2015_03_01:187212006 SNOMEDCT_US_2015_03_01:187545007 SNOMEDCT_US_2015_03_01:20848007 SNOMEDCT_US_2015_03_01:266223008 SNOMEDCT_US_2015_03_01:414618002 SNOMEDCT_US_2015_03_01:74949007 UMLS_CUI:C0030756 disease_ontology mixed pediculosis mixed pediculosis (disorder) mixed pediculosis infestation pediculosis pediculosis and phthirus infection Louse infestation (& [pediculosis and phthirus] or [lice]) SNOMEDCT_2005_07_31:187207005 Pediculosis + lice NOS SNOMEDCT_2005_07_31:154417001 Pediculosis and phthirus infection NOS (disorder) SNOMEDCT_2005_07_31:187213001 Pediculosis and phthirus infections (disorder) SNOMEDCT_2005_07_31:266166005 Pediculosis, unspecified SNOMEDCT_2005_07_31:187212006 ICD9CM_2006:132.3 mixed pediculosis infestation Pediculosis + lice NOS SNOMEDCT_2005_07_31:266223008 ICD9CM_2006:132 Pediculosis and phthirus infestation Pediculosis, unspecified (disorder) SNOMEDCT_2005_07_31:187545007 SNOMEDCT_2005_07_31:91566005 mixed pediculosis (disorder) A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. url:http://en.wikipedia.org/wiki/Pediculosis Louse infestation (disorder) SNOMEDCT_2005_07_31:414618002 Infestation by Pediculus (disorder) SNOMEDCT_2005_07_31:20848007 Lice infestation, NOS SNOMEDCT_2005_07_31:74949007 ICD9CM_2006:132.9 Pediculosis, unspecified spinal cord ependymoma A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. DOID:5503 Ependymal neoplasm of the Spinal Cord NCI:C3875 SNOMEDCT_US_2015_03_01:254949006 UMLS_CUI:C0238432 disease_ontology A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. url:http://www.cancer.gov/dictionary?CdrID=46432 Ependymal neoplasm of the Spinal Cord NCI2004_11_17:C3875 tanycytic ependymoma DOID:5504 NCI:C6903 SNOMEDCT_US_2015_03_01:397378002 SNOMEDCT_US_2015_03_01:57706008 UMLS_CUI:C1370500 disease_ontology papillary ependymoma DOID:5505 MSH:D004806 NCI:C4319 SNOMEDCT_US_2015_03_01:112686007 SNOMEDCT_US_2015_03_01:128839002 UMLS_CUI:C0334578 disease_ontology clear cell ependymoma DOID:5507 disease_ontology brain stem ependymoma DOID:5508 Ependymoma of the Brainstem NCI:C5098 UMLS_CUI:C1332609 disease_ontology Ependymoma of the Brainstem NCI2004_11_17:C5098 pediatric ependymoma DOID:5509 NCI2009_04D:C8578 disease_ontology toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. DOID:549 DOID:550 DOID:551 DOID:553 DOID:554 ICD9CM:506.9 Pneumonitis due to fumes and/or vapors (disorder) UMLS_CUI:C0041881 acute chemical fume pulmonary edema acute chemical pulmonary edema acute pulmonary edema due to fumes and vapors bronchitis and pneumonitis due to fumes and vapors disease_ontology Pneumonitis due to fumes and/or vapors (disorder) SNOMEDCT_2005_07_31:22343003 SNOMEDCT_2005_07_31:155594004 acute chemical fume pulmonary edema A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. url:http://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306 ICD9CM_2006:506.1 acute pulmonary edema due to fumes and vapors pineal dysgerminoma DOID:5510 NCI:C7169 UMLS_CUI:C1335415 disease_ontology dysgerminoma of ovary A dysgerminoma that is located_in the ovary. DOID:5511 Dysgerminoma of ovary (disorder) NCI:C8106 Ovarian Dysgerminoma SNOMEDCT_US_2015_03_01:254874008 UMLS_CUI:C0346185 disease_ontology A dysgerminoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 NCI2004_11_17:C8106 Ovarian Dysgerminoma Dysgerminoma of ovary (disorder) SNOMEDCT_2005_07_31:254874008 Pediculus humanus corporis infestation A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. DOID:5513 ICD10CM:B85.1 ICD9CM:132.1 Pediculus corporis Pediculus corporis [body louse] Pediculus humanus infestation SNOMEDCT_US_2015_03_01:25188002 UMLS_CUI:C0030758 body louse infestation disease_ontology ICD9CM_2006:132.1 Pediculus corporis [body louse] Pediculus humanus infestation SNOMEDCT_2005_07_31:25188002 A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm MTHICD9_2006:132.1 Pediculus corporis breast squamous cell carcinoma DOID:5514 DOID:7300 NCI2009_04D:C5177 NCI:C5177 SCC of breast UMLS_CUI:C1336079 breast primary squamous cell carcinoma disease_ontology primary squamous cell carcinoma of breast primary squamous cell carcinoma of the breast squamous cell carcinoma of breast NCI2004_11_17:C5177 SCC of breast NCI2004_11_17:C5179 primary squamous cell carcinoma of the breast nasal cavity squamous cell carcinoma A nasal cavity carcinoma that has_material_basis_in squamous cells. DOID:5515 NCI:C8192 UMLS_CUI:C0280333 disease_ontology squamous cell carcinoma of nasal cavity squamous cell carcinoma of the nasal cavity A nasal cavity carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma NCI2004_11_17:C8192 squamous cell carcinoma of the nasal cavity gastric squamous cell carcinoma DOID:5516 NCI:C5475 UMLS_CUI:C1333789 disease_ontology squamous cell carcinoma of stomach NCI2004_11_17:C5475 squamous cell carcinoma of stomach stomach carcinoma A stomach cancer that is located_in the stomach. DOID:5517 EFO:0000178 NCI:C4911 SNOMEDCT_US_2015_03_01:154446008 SNOMEDCT_US_2015_03_01:255080008 SNOMEDCT_US_2015_03_01:372143007 UMLS_CUI:C0699791 cancer of the stomach carcinoma of stomach carcinoma of stomach (disorder) disease_ontology gastric carcinoma NCI2004_11_17:C4911 cancer of the stomach A stomach cancer that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_cancer SNOMEDCT_2005_07_31:372143007 carcinoma of stomach (disorder) SNOMEDCT_2005_07_31:255080008 carcinoma of stomach (disorder) SNOMEDCT_2005_07_31:154446008 carcinoma of stomach penis squamous cell carcinoma A penis carcinoma that has_material_basis_in squamous cells. DOID:5518 DOID:8008 Epidermoid cell carcinoma of penis NCI:C6979 NCI:C7729 SNOMEDCT_US_2015_03_01:403468003 UMLS_CUI:C0238348 UMLS_CUI:C1336081 disease_ontology squamous cell carcinoma of penis Epidermoid cell carcinoma of penis NCI2004_11_17:C7729 A penis carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma colon squamous cell carcinoma Colonic Epidermoid carcinoma DOID:5519 NCI:C5490 UMLS_CUI:C1333100 disease_ontology squamous cell carcinoma of colon Colonic Epidermoid carcinoma NCI2004_11_17:C5490 pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. DOID:10509 DOID:11742 DOID:552 DOID:5871 MSH:D011014 NCI:C3333 SNOMEDCT_US_2015_03_01:155548002 SNOMEDCT_US_2015_03_01:155552002 SNOMEDCT_US_2015_03_01:155558003 SNOMEDCT_US_2015_03_01:233604007 SNOMEDCT_US_2015_03_01:266391003 SNOMEDCT_US_2015_03_01:274103002 SNOMEDCT_US_2015_03_01:60363000 UMLS_CUI:C0032285 acute pneumonia disease_ontology A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. url:http://en.wikipedia.org/wiki/Pneumonia head and neck squamous cell carcinoma A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. DOID:5520 MSH:C535575 NCI:C34447 NCI:C35850 OMIM mapping confirmed by DO. [SN]. OMIM:275355 UMLS_CUI:C1168401 carcinoma of the head and neck disease_ontology squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck NCI2004_11_17:C34447 squamous cell carcinoma of the head and neck NCI2004_11_17:C35850 carcinoma of the head and neck A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. url:http://atlasgeneticsoncology.org/Tumors/HeadNeckSCCID5090.html url:http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=597171 keratinizing squamous cell carcinoma A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. DOID:5521 Keratinizing squamous cell carcinoma NCI:C4105 SNOMEDCT_US_2015_03_01:18048008 SNOMEDCT_US_2015_03_01:189568009 UMLS_CUI:C0334247 disease_ontology keratinizing epidermoid carcinoma squamous cell carcinoma, keratinizing (morphologic abnormality) SNOMEDCT_2005_07_31:18048008 squamous cell carcinoma, keratinizing (morphologic abnormality) Keratinizing squamous cell carcinoma NCI2004_11_17:C4105 A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false basaloid squamous cell carcinoma A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. Basaloid carcinoma Basaloid carcinoma (morphologic abnormality) Basaloid squamous cell carcinoma (morphologic abnormality) DOID:5522 NCI:C54244 SNOMEDCT_US_2015_03_01:128634009 UMLS_CUI:C1266005 disease_ontology Basaloid carcinoma NCI2004_11_17:C4121 Basaloid squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128634009 A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. url:http://www.ncbi.nlm.nih.gov/pubmed/19738459 Basaloid carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:5843004 adenoid squamous cell carcinoma A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. Acantholytic squamous cell carcinoma (disorder) DOID:5524 DOID:6593 NCI:C4106 NCI:C4200 Pseudoglandular squamous carcinoma SNOMEDCT_US_2015_03_01:15176003 SNOMEDCT_US_2015_03_01:403901001 SNOMEDCT_US_2015_03_01:85956000 UMLS_CUI:C0334250 UMLS_CUI:C0334393 adenoacanthoma adenocarcinoma with squamous metaplasia (morphologic abnormality) adenoid squamous cell carcinoma (morphologic abnormality) disease_ontology NCI2004_11_17:C4106 Pseudoglandular squamous carcinoma A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. url:http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma SNOMEDCT_2005_07_31:15176003 adenocarcinoma with squamous metaplasia (morphologic abnormality) SNOMEDCT_2005_07_31:85956000 adenoid squamous cell carcinoma (morphologic abnormality) Acantholytic squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403901001 anal squamous cell carcinoma An anal carcinoma that arises near the squamocolumnar junction. DOID:5525 Epidermoid anal carcinoma NCI:C9161 SNOMEDCT_US_2015_03_01:255084004 UMLS_CUI:C1412036 disease_ontology Epidermoid anal carcinoma NCI2004_11_17:C9161 An anal carcinoma that arises near the squamocolumnar junction. url:http://en.wikipedia.org/wiki/Anal_cancer middle ear squamous cell carcinoma A middle ear carcinoma that has_material_basis_in squamous cells. DOID:5526 Epidermoid carcinoma of the middle ear NCI:C6086 UMLS_CUI:C1334762 disease_ontology squamous cell carcinoma of middle ear Epidermoid carcinoma of the middle ear NCI2004_11_17:C6086 A middle ear carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma ampulla of Vater squamous cell carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. DOID:5527 NCI:C27417 UMLS_CUI:C1332251 disease_ontology An ampulla of Vater carcinoma that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma rectum squamous cell carcinoma DOID:5528 NCI:C5554 UMLS_CUI:C1335690 disease_ontology squamous carcinoma of rectum squamous cell carcinoma of the rectum NCI2004_11_17:C5554 squamous carcinoma of rectum lacrimal gland squamous cell carcinoma DOID:5529 Epidermoid carcinoma of the lacrimal gland NCI:C6092 UMLS_CUI:C1334360 disease_ontology squamous cell carcinoma of lacrimal gland Epidermoid carcinoma of the lacrimal gland NCI2004_11_17:C6092 thymus squamous cell carcinoma DOID:5530 Epidermoid Thymic carcinoma NCI:C6455 UMLS_CUI:C1336082 disease_ontology Epidermoid Thymic carcinoma NCI2004_11_17:C6455 ovarian squamous cell carcinoma DOID:5531 NCI2009_04D:C40093 disease_ontology ovarian squamous cell neoplasm DOID:5532 NCI:C40092 UMLS_CUI:C1518739 disease_ontology endometrial squamous cell carcinoma DOID:5533 NCI:C8719 UMLS_CUI:C1333396 disease_ontology squamous cell carcinoma of Endometrium NCI2004_11_17:C8719 squamous cell carcinoma of Endometrium renal pelvis squamous cell carcinoma DOID:5534 Epidermoid carcinoma of the kidney Pelvis NCI:C7732 UMLS_CUI:C0238409 disease_ontology squamous cell carcinoma of renal pelvis Epidermoid carcinoma of the kidney Pelvis NCI2004_11_17:C7732 gallbladder squamous cell carcinoma DOID:5535 Epidermoid gallbladder carcinoma NCI:C9170 UMLS_CUI:C0279658 disease_ontology squamous cell carcinoma of the gallbladder Epidermoid gallbladder carcinoma NCI2004_11_17:C9170 sarcomatoid squamous cell skin carcinoma DOID:5536 NCI:C27084 NCI:C4666 SNOMEDCT_US_2015_03_01:10288008 SNOMEDCT_US_2015_03_01:254653005 SNOMEDCT_US_2015_03_01:403900000 UMLS_CUI:C0349656 disease_ontology spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell skin carcinoma spindle cell squamous carcinoma of skin (disorder) spindle cell squamous cell carcinoma (disorder) squamous cell carcinoma, sarcomatoid SNOMEDCT_2005_07_31:403900000 spindle cell squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:254653005 spindle cell squamous carcinoma of skin (disorder) SNOMEDCT_2005_07_31:10288008 squamous cell carcinoma, sarcomatoid NCI2004_11_17:C4666 spindle cell (sarcomatoid) squamous cell skin carcinoma NCI2004_11_17:C27084 spindle cell (sarcomatoid) squamous cell carcinoma squamous cell bile duct carcinoma DOID:5537 NCI:C5777 UMLS_CUI:C0861861 bile duct squamous cell carcinoma disease_ontology NCI2004_11_17:C5777 bile duct squamous cell carcinoma external ear squamous cell carcinoma DOID:5538 Epidermoid carcinoma of the External ear NCI:C6083 UMLS_CUI:C1333494 disease_ontology squamous cell carcinoma of external ear Epidermoid carcinoma of the External ear NCI2004_11_17:C6083 ureter squamous cell carcinoma DOID:5539 NCI:C6154 UMLS_CUI:C1336879 disease_ontology ureteral Epidermoid carcinoma NCI2004_11_17:C6154 ureteral Epidermoid carcinoma fallopian tube squamous cell carcinoma DOID:5540 NCI:C6282 UMLS_CUI:C1333596 disease_ontology squamous cell carcinoma of the fallopian tube NCI2004_11_17:C6282 squamous cell carcinoma of the fallopian tube anal neuroendocrine tumor DOID:5545 NCI:C5603 UMLS_CUI:C1332273 disease_ontology neuroendocrine tumor of anus NCI2004_11_17:C5603 neuroendocrine tumor of anus femoral cancer A bone cancer that is located_in the femur. DOID:5546 MSH:D005266 SNOMEDCT_US_2015_03_01:126583006 UMLS_CUI:C0015807 disease_ontology femoral neoplasm neoplasm of femur SNOMEDCT_2005_07_31:126583006 neoplasm of femur A bone cancer that is located_in the femur. url:http://lib.bioinfo.pl/meid:61888 pulmonary artery choriocarcinoma DOID:5547 NCI:C5381 Syncytioma of pulmonary artery UMLS_CUI:C1335571 disease_ontology NCI2004_11_17:C5381 Syncytioma of pulmonary artery CNS choriocarcinoma Choriocarcinoma of CNS DOID:5549 disease_ontology true Choriocarcinoma of CNS NCI2004_11_17:C7012 choriocarcinoma of ovary Choriocarcinoma of ovary (disorder) DOID:5550 NCI:C4515 Ovarian Choriocarcinoma SNOMEDCT_US_2015_03_01:254870004 UMLS_CUI:C0346181 disease_ontology Choriocarcinoma of ovary (disorder) SNOMEDCT_2005_07_31:254870004 NCI2004_11_17:C4515 Ovarian Choriocarcinoma choriocarcinoma of the testis DOID:5551 NCI:C7733 UMLS_CUI:C0238449 disease_ontology testicular Choriocarcinoma NCI2004_11_17:C7733 testicular Choriocarcinoma mediastinum choriocarcinoma Choriocarcinoma of mediastinum DOID:5552 disease_ontology true Choriocarcinoma of mediastinum NCI2004_11_17:C6440 pineal region choriocarcinoma DOID:5553 NCI:C6759 Pineal Choriocarcinoma UMLS_CUI:C1335414 disease_ontology NCI2004_11_17:C6759 Pineal Choriocarcinoma testicular malignant germ cell cancer DOID:5556 NCI:C9063 UMLS_CUI:C0855197 disease_ontology malignant germ cell tumor of testis NCI2004_11_17:C9063 malignant germ cell tumor of testis testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells. DOID:5557 MSH:C563236 NCI:C8591 OMIM:273300 OMIM:300228 ORDO:3636504 UMLS_CUI:C1336708 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology germ cell tumor of testis testicular germ cell neoplasm NCI2004_11_17:C8591 germ cell tumor of testis A testicular cancer that has_material_basis_in germ cells. url:http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer url:http://www.cancer.gov/dictionary?CdrID=445090 url:http://www.cancer.gov/dictionary?CdrID=695185 mediastinal cancer A thoracic cancer that is located_in the mediastinum. DOID:5559 DOID:9914 ICD10CM:C38.3 ICD9CM:164.9 MSH:D008479 NCI:C3221 NCI:C3549 SNOMEDCT_US_2015_03_01:126725000 SNOMEDCT_US_2015_03_01:187889002 SNOMEDCT_US_2015_03_01:190097009 SNOMEDCT_US_2015_03_01:363494000 SNOMEDCT_US_2015_03_01:93891008 SNOMEDCT_US_2015_03_01:94147001 Tumour of mediastinum UMLS_CUI:C0025063 UMLS_CUI:C0153504 disease_ontology mediastinal tumor mediastinum cancer neoplasm of mediastinum (disorder) NCI2004_11_17:C3221 mediastinal tumor A thoracic cancer that is located_in the mediastinum. url:http://en.wikipedia.org/wiki/Mediastinal SNOMEDCT_2005_07_31:126725000 neoplasm of mediastinum (disorder) SNOMEDCT_2005_07_31:94147001 Tumour of mediastinum mediastinal mesenchymal tumor DOID:5560 NCI:C6637 UMLS_CUI:C1334669 disease_ontology soft tissue tumor of mediastinum NCI2004_11_17:C6637 soft tissue tumor of mediastinum gastric teratoma DOID:5561 NCI:C5259 UMLS_CUI:C1333790 disease_ontology teratoma of stomach NCI2004_11_17:C5259 teratoma of stomach dermoid cyst with malignant transformation DOID:5562 Dermoid cyst with malignant transformation (morphologic abnormality) disease_ontology teratoma with malignant Transformation teratoma with malignant transformation (morphologic abnormality) teratoma with malignant transformation [dup] (morphologic abnormality) true Dermoid cyst with malignant transformation (morphologic abnormality) SNOMEDCT_2005_07_31:189849004 NCI2004_11_17:C4289 teratoma with malignant Transformation SNOMEDCT_2005_07_31:88334008 teratoma with malignant transformation (morphologic abnormality) SNOMEDCT_2005_07_31:302854009 teratoma with malignant transformation [dup] (morphologic abnormality) malignant teratoma DOID:5563 DOID:6106 Immature teratoma MSH:D013724 NCI:C4286 NCI:C8884 SNOMEDCT_US_2015_03_01:189847002 SNOMEDCT_US_2015_03_01:19467007 UMLS_CUI:C0334520 UMLS_CUI:C0855163 disease_ontology malignant Extragonadal teratoma primary malignant extragonadal teratoma NCI2004_11_17:C8884 malignant Extragonadal teratoma Immature teratoma NCI2004_11_17:C4286 fallopian tube teratoma DOID:5564 NCI:C40131 UMLS_CUI:C1517127 disease_ontology adult teratoma DOID:5565 NCI:C9013 SNOMEDCT_US_2015_03_01:42717009 UMLS_CUI:C1368898 adult teratoma, NOS disease_ontology SNOMEDCT_2005_07_31:42717009 adult teratoma, NOS mature teratoma DOID:5566 MSH:D013724 Mature teratoma NCI:C9015 SNOMEDCT_US_2015_03_01:42717009 SNOMEDCT_US_2015_03_01:55818009 UMLS_CUI:C1368910 disease_ontology Mature teratoma SNOMEDCT_2005_07_31:42717009 Mature teratoma SNOMEDCT_2005_07_31:55818009 ovarian germ cell teratoma DOID:5567 NCI:C8110 UMLS_CUI:C0280131 disease_ontology germ cell teratoma of Ovary NCI2004_11_17:C8110 germ cell teratoma of Ovary mediastinum teratoma DOID:5568 NCI:C6438 UMLS_CUI:C1334682 disease_ontology teratoma of mediastinum NCI2004_11_17:C6438 teratoma of mediastinum malignant syringoma DOID:5569 Microcystic Adnexal carcinoma Microcystic adnexal carcinoma of skin (disorder) Syringomatous carcinoma disease_ontology Microcystic adnexal carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254712007 Microcystic Adnexal carcinoma NCI2004_11_17:C7581 SNOMEDCT_2005_07_31:128896007 Syringomatous carcinoma kidney disease A urinary system disease that is located_in the kidney. DOID:557 EFO:0003086 ICD10CM:N08 ICD10CM:N28.9 MSH:D007674 NCI:C3149 NCI:C34843 SNOMEDCT_US_2015_03_01:155871008 SNOMEDCT_US_2015_03_01:266612003 SNOMEDCT_US_2015_03_01:266624005 SNOMEDCT_US_2015_03_01:266627003 SNOMEDCT_US_2015_03_01:274108006 SNOMEDCT_US_2015_03_01:90708001 UMLS_CUI:C0022658 disease_ontology nephropathy A urinary system disease that is located_in the kidney. url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html malignant acrospiroma DOID:5570 Eccrine ductal carcinoma (morphologic abnormality) Eccrine ductal carcinoma of skin NCI:C43345 SNOMEDCT_US_2015_03_01:400208002 SNOMEDCT_US_2015_03_01:403939009 UMLS_CUI:C1260964 anaplastic syringoma disease_ontology malignant Acrospiroma NCI2004_11_17:C27532 malignant Acrospiroma Eccrine ductal carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:400208002 Eccrine ductal carcinoma of skin SNOMEDCT_2005_07_31:403939009 Beckwith-Wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. DOID:5572 ICD10CM:Q87.3 MSH:D001506 NCI:C34415 OMIM mapping confirmed by DO. [SN]. OMIM:130650 ORDO:116 SNOMEDCT_US_2015_03_01:81780002 UMLS_CUI:C0004903 disease_ontology A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. url:http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome url:http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract classical swine fever A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. DOID:5573 Hog cholera (disorder) disease_ontology true Hog cholera (disorder) SNOMEDCT_2005_07_31:28044006 A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf VIPoma DOID:5574 MSH:D003969 NCI:C26749 SNOMEDCT_US_2015_03_01:253005002 SNOMEDCT_US_2015_03_01:447643008 UMLS_CUI:C0011993 VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor (disorder) Vipoma, malignant disease_ontology malignant vasoactive intestinal peptide-secreting tumor SNOMEDCT_2005_07_31:31131002 Vipoma, malignant NCI2004_11_17:C26749 VIP- Secreting tumor SNOMEDCT_2005_07_31:253005002 Vasoactive intestinal peptide-secreting tumor (disorder) delayed puberty DOID:5575 Delay in sexual development and/or puberty Delayed puberty Delayed puberty (& [NOS]) Delayed puberty (disorder) Delayed puberty NOS delayed puberty disease_ontology true Delay in sexual development and/or puberty SNOMEDCT_2005_07_31:123526007 Delayed puberty NOS SNOMEDCT_2005_07_31:267487003 CSP2005:2586-8835 delayed puberty Delayed puberty (& [NOS]) SNOMEDCT_2005_07_31:154715005 Delayed puberty SNOMEDCT_2005_07_31:39760001 Delayed puberty (disorder) SNOMEDCT_2005_07_31:400003000 Delayed puberty MTHICD9_2006:259.0 inhibited male orgasm DOID:5576 ICD10CM:F52.32 Inhibited male orgasm (disorder) NCI:C34959 SNOMEDCT_US_2015_03_01:153261000119109 SNOMEDCT_US_2015_03_01:191795002 SNOMEDCT_US_2015_03_01:81903006 UMLS_CUI:C0033949 disease_ontology male Orgasmic disorder NCI2004_11_17:C34959 male Orgasmic disorder Inhibited male orgasm (disorder) SNOMEDCT_2005_07_31:81903006 gastrinoma A neuroendocrine tumor that results_in an overproduction of gastric acid. DOID:5577 Gastrin Secreting tumor Gastrin cell tumour MSH:D015408 NCI:C3050 SNOMEDCT_US_2015_03_01:134156006 SNOMEDCT_US_2015_03_01:16189002 SNOMEDCT_US_2015_03_01:302824004 UMLS_CUI:C0017150 disease_ontology malignant gastrinoma Gastrin Secreting tumor NCI2004_11_17:C3050 Gastrin cell tumour SNOMEDCT_2005_07_31:16189002 A neuroendocrine tumor that results_in an overproduction of gastric acid. url:http://www.cancer.gov/dictionary?CdrID=44239 small intestinal gastrinoma DOID:5578 disease_ontology small intestinal G-cell gastrin producing tumor true gastric gastrinoma DOID:5579 NCI:C27444 UMLS_CUI:C1333767 disease_ontology gastric G-cell gastrin producing tumor acute pyelonephritis without lesion of renal medullary necrosis DOID:558 disease_ontology true pancreatic gastrinoma DOID:5580 NCI:C9069 NCI:C95596 UMLS_CUI:C1368066 disease_ontology pancreatic G-cell tumor NCI2004_11_17:C9069 pancreatic G-cell tumor lung giant cell carcinoma A lung carcinoma that is located_in large undifferentiated cells. DOID:5583 DOID:5584 Giant cell carcinoma Giant cell lung carcinoma MSH:D018286 NCI:C3779 NCI:C4452 SNOMEDCT_US_2015_03_01:254631008 SNOMEDCT_US_2015_03_01:42596004 UMLS_CUI:C0206703 UMLS_CUI:C0345960 disease_ontology Giant cell carcinoma NCI2004_11_17:C3779 A lung carcinoma that is located_in large undifferentiated cells. url:http://chemo.net/large.htm url:http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma Giant cell lung carcinoma NCI2004_11_17:C4452 Ferguson-Smith tumor DOID:5585 Multiple self-healing epithelioma of Ferguson-Smith (disorder) NCI:C4461 SNOMEDCT_US_2015_03_01:254659009 UMLS_CUI:C0345982 disease_ontology Multiple self-healing epithelioma of Ferguson-Smith (disorder) SNOMEDCT_2005_07_31:254659009 Volkmann contracture DOID:5587 ICD10CM:T79.6 ICD9CM:958.6 MSH:D054061 NCI:C35130 SNOMEDCT_US_2015_03_01:111247001 SNOMEDCT_US_2015_03_01:157667008 UMLS_CUI:C0042951 Volkmann's ischemic contracture disease_ontology ICD9CM_2006:958.6 Volkmann's ischemic contracture lung papillary adenocarcinoma DOID:5588 NCI:C5650 Papillary adenocarcinoma of the lung UMLS_CUI:C1335325 disease_ontology NCI2004_11_17:C5650 Papillary adenocarcinoma of the lung acute pyelonephritis DOID:559 ICD10CM:N10 ICD9CM:590.1 SNOMEDCT_US_2015_03_01:155862004 SNOMEDCT_US_2015_03_01:197771007 SNOMEDCT_US_2015_03_01:22352007 SNOMEDCT_US_2015_03_01:266620001 SNOMEDCT_US_2015_03_01:36689008 UMLS_CUI:C0520575 acute pyelonephritis (disorder) acute pyelonephritis NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:36689008 acute pyelonephritis (disorder) SNOMEDCT_2005_07_31:197771007 acute pyelonephritis NOS (disorder) aggressive digital papillary adenocarcinoma DOID:5590 disease_ontology eccrine papillary adenocarcinoma DOID:5591 Digital papillary adenocarcinoma SNOMEDCT_US_2015_03_01:128898008 UMLS_CUI:C1367774 disease_ontology Digital papillary adenocarcinoma SNOMEDCT_2005_07_31:128898008 breast papillary carcinoma DOID:5592 DOID:6800 NCI:C6870 Papillary carcinoma of the breast UMLS_CUI:C1336027 breast solid papillary carcinoma disease_ontology papillary carcinoma of breast solid papillary carcinoma of the breast NCI2004_11_17:C9134 Papillary carcinoma of the breast gastric papillary adenocarcinoma DOID:5593 NCI:C5472 Papillary adenocarcinoma of stomach UMLS_CUI:C1333785 disease_ontology NCI2004_11_17:C5472 Papillary adenocarcinoma of stomach intraductal papillary adenocarcinoma with invasion DOID:5594 Intraductal Papillary adenocarcinoma with Invasion Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) disease_ontology true Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) SNOMEDCT_2005_07_31:64524002 Intraductal Papillary adenocarcinoma with Invasion NCI2004_11_17:C7439 papillary thymic adenocarcinoma DOID:5595 NCI:C27937 Papillary carcinoma of the Thymus UMLS_CUI:C1335327 disease_ontology NCI2004_11_17:C27937 Papillary carcinoma of the Thymus fallopian tube papillary adenocarcinoma DOID:5597 NCI:C6267 Papillary adenocarcinoma of the fallopian tube UMLS_CUI:C1333595 disease_ontology NCI2004_11_17:C6267 Papillary adenocarcinoma of the fallopian tube fallopian tube serous adenocarcinoma DOID:5598 NCI:C40099 UMLS_CUI:C1517124 disease_ontology precursor T-lymphoblastic lymphoma/leukemia DOID:5599 Precursor T-Lymphoblastic Lymphoma/Leukemia disease_ontology NCI2004_11_17:C8694 Precursor T-Lymphoblastic Lymphoma/Leukemia jaw-winking syndrome DOID:560 ICD10CM:Q07.8 ICD9CM:374.43 Jaw-blinking Jaw-blinking (disorder) Jaw-winking syndrome [Ambiguous] MSH:C535908 Marcus-Gunn syndrome OMIM mapping confirmed by DO. [SN]. OMIM:154600 Pterygoid-levator synkinesis SNOMEDCT_US_2015_03_01:193949006 SNOMEDCT_US_2015_03_01:204089009 SNOMEDCT_US_2015_03_01:204090000 SNOMEDCT_US_2015_03_01:36603006 SNOMEDCT_US_2015_03_01:5127009 UMLS_CUI:C0266521 abnormal innervation syndrome of eyelid disease_ontology Jaw-blinking (disorder) SNOMEDCT_2005_07_31:36603006 ICD9CM_2006:374.43 abnormal innervation syndrome of eyelid Jaw-blinking MTHICD9_2006:374.43 Jaw-winking syndrome [Ambiguous] SNOMEDCT_2005_07_31:204089009 Pterygoid-levator synkinesis SNOMEDCT_2005_07_31:5127009 MTHICD9_2006:742.8 Marcus-Gunn syndrome precursor lymphoblastic lymphoma/leukemia DOID:5600 NCI:C7055 UMLS_CUI:C1335469 disease_ontology T-cell neoplasm DOID:5601 disease_ontology true T-cell adult acute lymphocytic leukemia DOID:5602 NCI:C9142 UMLS_CUI:C0279592 adult Precursor T Lymphoblastic Leukemia disease_ontology NCI2004_11_17:C9142 adult Precursor T Lymphoblastic Leukemia acute T cell leukemia CSP:2004-1600 CSP:2004-1803 DOID:5603 ICD10CM:C91.5 ICD10CM:C91.50 MSH:D015459 NCI:C3184 Precursor T Lymphoblastic Leukemia SNOMEDCT_US_2015_03_01:110007008 SNOMEDCT_US_2015_03_01:188729005 SNOMEDCT_US_2015_03_01:77430005 T-cell acute lymphoblastic leukemia (disorder) UMLS_CUI:C0023493 disease_ontology NCI2004_11_17:C3183 Precursor T Lymphoblastic Leukemia SNOMEDCT_2005_07_31:277575008 T-cell acute lymphoblastic leukemia (disorder) adult acute lymphocytic leukemia DOID:5604 NCI:C4967 UMLS_CUI:C0751606 adult acute lymphoid Leukemia disease_ontology NCI2004_11_17:C4967 adult acute lymphoid Leukemia breast medullary carcinoma DOID:5605 Medullary breast carcinoma with lymphoid Stroma NCI:C9119 UMLS_CUI:C0860580 disease_ontology medullary carcinoma of breast Medullary breast carcinoma with lymphoid Stroma NCI2004_11_17:C9119 dental pulp calcification DOID:5608 ICD10CM:K04.2 MSH:D003784 SNOMEDCT_US_2015_03_01:57602001 UMLS_CUI:C0011401 disease_ontology pulp calcification pulp calcifications pulpal calcifications SNOMEDCT_2005_07_31:57602001 pulpal calcifications CSP2005:0834-4423 pulp calcification MTHICD9_2006:522.2 pulp calcifications congenital adrenal gland disorder DOID:5609 disease_ontology true trigeminal nerve disease DOID:561 ICD9CM:350.8 UMLS_CUI:C0029834 disease_ontology anaplastic intraspinal meningioma DOID:5611 disease_ontology malignant Intraspinal meningioma true NCI2004_11_17:C8605 malignant Intraspinal meningioma spinal cancer A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). DOID:3638 DOID:5612 DOID:7225 ICD10CM:C72.0 ICD9CM:192.2 Intraspinal tumor MSH:D013120 MSH:D013125 NCI:C3381 NCI:C3382 NCI:C3572 SNOMEDCT_US_2015_03_01:126962006 SNOMEDCT_US_2015_03_01:363475005 SNOMEDCT_US_2015_03_01:94068003 UMLS_CUI:C0037930 UMLS_CUI:C0037939 UMLS_CUI:C0153646 disease_ontology malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm spinal neoplasm tumor of the Spinal Cord Intraspinal tumor NCI2004_11_17:C3382 NCI2004_11_17:C3572 malignant tumor of the Spinal Cord NCI2004_11_17:C3381 tumor of the Spinal Cord A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). url:http://en.wikipedia.org/wiki/Spinal_tumor anaplastic meningioma DOID:5613 anaplastic (malignant) meningioma disease_ontology malignant meningioma (morphologic abnormality) meningioma, malignant (morphologic abnormality) true SNOMEDCT_2005_07_31:134174002 malignant meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:78303004 meningioma, malignant (morphologic abnormality) NCI2004_11_17:C4051 anaplastic (malignant) meningioma eye disease An eye and adnexa disease that is located_in the eye. DOID:2933 DOID:5614 ICD10CM:H44 ICD10CM:H44.9 ICD9CM:360 ICD9CM:360.9 ICD9CM:379.90 MSH:D005128 NCI:C26767 SNOMEDCT_US_2015_03_01:111509007 SNOMEDCT_US_2015_03_01:155101007 SNOMEDCT_US_2015_03_01:155198005 SNOMEDCT_US_2015_03_01:193265001 SNOMEDCT_US_2015_03_01:193266000 SNOMEDCT_US_2015_03_01:193316008 SNOMEDCT_US_2015_03_01:194183009 SNOMEDCT_US_2015_03_01:264555006 SNOMEDCT_US_2015_03_01:366261005 SNOMEDCT_US_2015_03_01:371405004 SNOMEDCT_US_2015_03_01:371409005 SNOMEDCT_US_2015_03_01:79517001 UMLS_CUI:C0015397 disease_ontology eye infection eye infection (disorder) An eye and adnexa disease that is located_in the eye. url:http://en.wikipedia.org/wiki/Eye_disease SNOMEDCT_2005_07_31:193270008 SNOMEDCT_2005_07_31:193857008 eye infection CSP2005:1115-1009 eye infection SNOMEDCT_2005_07_31:128351009 eye infection (disorder) spinal canal intradural extramedullary neoplasm DOID:5615 Intradural Extramedullary Spinal tumors NCI:C5135 UMLS_CUI:C1334255 disease_ontology Intradural Extramedullary Spinal tumors NCI2004_11_17:C5135 intraepithelial neoplasm DOID:5616 disease_ontology epithelial Dysplasia epithelial dysplasia (morphologic abnormality) true SNOMEDCT_2005_07_31:61313004 epithelial dysplasia (morphologic abnormality) NCI2004_11_17:C8366 epithelial Dysplasia third cranial nerve disease DOID:562 NCI:C27598 Oculomotor nerve disorder SNOMEDCT_US_2015_03_01:230531004 SNOMEDCT_US_2015_03_01:60750009 Third cranial nerve disease (disorder) UMLS_CUI:C0271353 disease_ontology disorder of oculomotor nerve NCI2004_11_17:C27598 Oculomotor nerve disorder SNOMEDCT_2005_07_31:230531004 disorder of oculomotor nerve SNOMEDCT_2005_07_31:60750009 Third cranial nerve disease (disorder) histiocytic and dendritic cell cancer A sarcoma and hematologic cancer that derives_from follicular lymphoma. DOID:5621 NCI:C9294 UMLS_CUI:C1334030 disease_ontology histiocytic and dendritic cell A sarcoma and hematologic cancer that derives_from follicular lymphoma. url:http://www.springerlink.com/content/h9wrn7p72x26q035/ Major puerperal infectious disease DOID:5622 disease_ontology true adenosquamous breast carcinoma DOID:5623 NCI:C40361 UMLS_CUI:C1510796 disease_ontology adenosquamous bile duct carcinoma A bile duct carcinoma that derives_from squamous cells and gland-like cells. DOID:5624 NCI:C5778 UMLS_CUI:C0861854 bile duct Adenosquamous carcinoma disease_ontology A bile duct carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma NCI2004_11_17:C5778 bile duct Adenosquamous carcinoma esophageal adenosquamous carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. DOID:5625 NCI2009_04D:C27421 disease_ontology An esophageal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma thymus adenosquamous carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of the Thymus DOID:5626 NCI:C6458 UMLS_CUI:C1332171 disease_ontology Adenosquamous carcinoma of the Thymus NCI2004_11_17:C6458 A thymic carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma adenosquamous gallbladder carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of the gallbladder DOID:5627 NCI:C7356 UMLS_CUI:C1333741 adenosquamous carcinoma of gallbladder disease_ontology Adenosquamous carcinoma of the gallbladder NCI2004_11_17:C7356 A gallbladder carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma ampulla of Vater adenosquamous carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. DOID:5628 NCI:C27418 UMLS_CUI:C1332245 disease_ontology An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma adenosquamous colon carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. Colonic Adenosquamous carcinoma DOID:5629 NCI:C5491 UMLS_CUI:C1333082 adenosquamous carcinoma of colon disease_ontology Colonic Adenosquamous carcinoma NCI2004_11_17:C5491 A colon carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma primary Fusobacteriaceae infectious disease DOID:563 disease_ontology true Bartholin's gland adenosquamous carcinoma A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. Bartholin gland adenosquamous carcinoma DOID:5630 NCI:C40296 UMLS_CUI:C1511050 disease_ontology A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma endometrial adenosquamous carcinoma Adenosquamous carcinoma of Endometrium An endometrial carcinoma that derives_from squamous cells and gland-like cells. DOID:5631 disease_ontology Adenosquamous carcinoma of Endometrium NCI2004_11_17:C6290 An endometrial carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma optic nerve sheath meningioma DOID:5632 NCI:C4538 SNOMEDCT_US_2015_03_01:254978007 UMLS_CUI:C0346328 disease_ontology meningioma of optic nerve sheath (disorder) optic nerve Sheath meningioma SNOMEDCT_2005_07_31:254978007 meningioma of optic nerve sheath (disorder) NCI2004_11_17:C4538 optic nerve Sheath meningioma visual pathway meningioma DOID:5633 disease_ontology meningioma of the optic tract true NCI2004_11_17:C5587 meningioma of the optic tract adenosquamous prostate carcinoma A prostate carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of the prostate DOID:5634 NCI:C5538 UMLS_CUI:C1335503 adenosquamous carcinoma of prostate disease_ontology A prostate carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of the prostate NCI2004_11_17:C5538 gastric adenosquamous carcinoma Adenosquamous carcinoma of stomach DOID:5635 NCI:C5474 UMLS_CUI:C1333761 disease_ontology Adenosquamous carcinoma of stomach NCI2004_11_17:C5474 cervical adenosquamous carcinoma A cervical carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of cervix (disorder) Adenosquamous cell carcinoma of the Cervix Uteri DOID:5636 NCI:C4519 SNOMEDCT_US_2015_03_01:254888007 UMLS_CUI:C0346202 disease_ontology Adenosquamous cell carcinoma of the Cervix Uteri NCI2004_11_17:C4519 A cervical carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of cervix (disorder) SNOMEDCT_2005_07_31:254888007 adenosquamous pancreas carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of pancreas DOID:5637 NCI:C5721 UMLS_CUI:C1335299 adenosquamous carcinoma of the pancreas disease_ontology A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of pancreas NCI2004_11_17:C5721 malignant giant cell tumor of soft parts DOID:5638 NCI:C8380 SNOMEDCT_US_2015_03_01:48460009 UMLS_CUI:C0334554 disease_ontology malignant Giant cell neoplasm of soft Parts malignant giant cell tumor of soft parts (morphologic abnormality) NCI2004_11_17:C8380 malignant Giant cell neoplasm of soft Parts SNOMEDCT_2005_07_31:48460009 malignant giant cell tumor of soft parts (morphologic abnormality) rete testis neoplasm DOID:5639 NCI:C39955 UMLS_CUI:C1514912 disease_ontology diffuse pulmonary fibrosis DOID:5641 Diffuse pulmonary Fibrosis NCI:C27216 UMLS_CUI:C0865849 disease_ontology Diffuse pulmonary Fibrosis NCI2004_11_17:C27216 localized pulmonary fibrosis DOID:5642 NCI:C27103 SNOMEDCT_US_2015_03_01:233726000 UMLS_CUI:C0340127 disease_ontology localized pulmonary Fibrosis localized pulmonary fibrosis (disorder) NCI2004_11_17:C27103 localized pulmonary Fibrosis SNOMEDCT_2005_07_31:233726000 localized pulmonary fibrosis (disorder) urethral villous adenoma DOID:5643 NCI:C39872 UMLS_CUI:C1519828 disease_ontology tricuspid valve prolapse DOID:5644 MSH:D014263 SNOMEDCT_US_2015_03_01:253383003 Tricuspid valve prolapse (disorder) UMLS_CUI:C0040962 disease_ontology SNOMEDCT_2005_07_31:253383003 Tricuspid valve prolapse (disorder) choroid plexus carcinoma A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. Choroid plexus carcinoma (morphologic abnormality) DOID:5647 DOID:5648 MSH:C562943 NCI:C4533 NCI:C4715 SNOMEDCT_US_2015_03_01:188292007 SNOMEDCT_US_2015_03_01:88252006 UMLS_CUI:C0346289 UMLS_CUI:C0431109 cancer of Choroid Plexus disease_ontology malignant neoplasm of choroid plexus malignant neoplasm of the Choroid Plexus malignant tumor of choroid plexus malignant tumor of choroid plexus (disorder) SNOMEDCT_2005_07_31:188292007 malignant tumor of choroid plexus (disorder) MTHICD9_2006:191.5 malignant neoplasm of choroid plexus NCI2004_11_17:C4715 cancer of Choroid Plexus NCI2004_11_17:C4533 malignant neoplasm of the Choroid Plexus Choroid plexus carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:88252006 A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45963 solid carcinoma DOID:5649 disease_ontology solid carcinoma NOS (morphologic abnormality) solid carcinoma with mucin formation true SNOMEDCT_2005_07_31:81920005 solid carcinoma with mucin formation SNOMEDCT_2005_07_31:189606002 solid carcinoma NOS (morphologic abnormality) bilateral hypoactive labyrinth Bilateral hypoactive labyrinth (disorder) DOID:565 Hypoactive bilateral labyrinthine dysfunction (disorder) Hypoactive labyrinth, bilateral ICD9CM:386.54 SNOMEDCT_US_2015_03_01:194375009 SNOMEDCT_US_2015_03_01:71682006 UMLS_CUI:C0155518 disease_ontology Hypoactive bilateral labyrinthine dysfunction (disorder) SNOMEDCT_2005_07_31:194375009 Hypoactive labyrinth, bilateral ICD9CM_2006:386.54 Bilateral hypoactive labyrinth (disorder) SNOMEDCT_2005_07_31:71682006 anaplastic carcinoma A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. DOID:5651 anaplastic carcinoma carcinoma, anaplastic (morphologic abnormality) carcinoma, anaplastic type, NOS (morphologic abnormality) disease_ontology true A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. url:http://en.wikipedia.org/wiki/Anaplastic_carcinoma url:http://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma SNOMEDCT_2005_07_31:58248003 carcinoma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:189553008 carcinoma, anaplastic type, NOS (morphologic abnormality) NCI2004_11_17:C3690 anaplastic carcinoma metaplastic carcinoma DOID:5652 Metaplastic carcinoma (morphologic abnormality) disease_ontology true Metaplastic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128705006 chiasmal syndrome DOID:5655 ICD10CM:H47.4 ICD9CM:377.5 SNOMEDCT_US_2015_03_01:194061008 SNOMEDCT_US_2015_03_01:70476006 UMLS_CUI:C0155307 chiasma syndrome disease_ontology disorder of optic chiasm ICD9CM_2006:377.5 disorder of optic chiasm cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves. Cranial nerve disorder DOID:5656 ICD10CM:G52.9 ICD9CM:352.9 MSH:D003389 NCI:C26733 SNOMEDCT_US_2015_03_01:193104009 SNOMEDCT_US_2015_03_01:267598004 SNOMEDCT_US_2015_03_01:267709002 SNOMEDCT_US_2015_03_01:276379008 SNOMEDCT_US_2015_03_01:73013002 UMLS_CUI:C0010266 disease_ontology disorder of cranial nerve A neuropathy that is located_in one of the twelve cranial nerves. url:http://en.wikipedia.org/wiki/Cranial_nerve_disease url:http://www.ncbi.nlm.nih.gov/mesh/68003389 Cranial nerve disorder NCI2004_11_17:C26733 SNOMEDCT_2005_07_31:276379008 disorder of cranial nerve lipid-rich carcinoma DOID:5658 Lipid-rich carcinoma Lipid-rich carcinoma (morphologic abnormality) NCI:C4152 SNOMEDCT_US_2015_03_01:189655006 SNOMEDCT_US_2015_03_01:3839000 UMLS_CUI:C0334318 disease_ontology Lipid-rich carcinoma SNOMEDCT_2005_07_31:189655006 Lipid-rich carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:3839000 invasive carcinoma A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. DOID:5659 disease_ontology true A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. url:http://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx labyrinthine dysfunction DOID:566 ICD10CM:H83.2 ICD10CM:H83.2X ICD10CM:H83.2X9 ICD9CM:386.5 ICD9CM:386.50 SNOMEDCT_US_2015_03_01:194371000 SNOMEDCT_US_2015_03_01:194378006 SNOMEDCT_US_2015_03_01:5239005 UMLS_CUI:C0155514 disease_ontology lymphoepithelioma-like carcinoma A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. DOID:5660 Lymphoepithelioma-like carcinoma NCI:C4107 Nasopharyngeal type Undifferentiated carcinoma SNOMEDCT_US_2015_03_01:7300000 UMLS_CUI:C0334254 disease_ontology lymphoepithelial carcinoma A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. url:http://www.najms.org/resources/PDF++375-376+Lymphoepithelioma+like+carcinoma.pdf Lymphoepithelioma-like carcinoma NCI2004_11_17:C27387 Lymphoepithelioma-like carcinoma SNOMEDCT_2005_07_31:7300000 NCI2004_11_17:C4107 Nasopharyngeal type Undifferentiated carcinoma pleomorphic carcinoma A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. DOID:5662 NCI:C4094 Pleomorphic carcinoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:16741004 UMLS_CUI:C0334233 disease_ontology Pleomorphic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:16741004 A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. url:http://ats.ctsnetjournals.org/cgi/content/full/78/5/1742 helicobacter pylori-related carcinoma DOID:5663 disease_ontology true external ear cancer DOID:5665 NCI:C4653 SNOMEDCT_US_2015_03_01:277156006 UMLS_CUI:C0349576 disease_ontology malignant neoplasm of the External ear malignant tumor of external ear (disorder) SNOMEDCT_2005_07_31:277156006 malignant tumor of external ear (disorder) NCI2004_11_17:C4653 malignant neoplasm of the External ear sweat gland carcinoma DOID:5667 NCI:C6938 SNOMEDCT_US_2015_03_01:254707006 SNOMEDCT_US_2015_03_01:254708001 SNOMEDCT_US_2015_03_01:32272007 UMLS_CUI:C1412016 carcinoma of the Sweat gland disease_ontology NCI2004_11_17:C6938 carcinoma of the Sweat gland comedo carcinoma A carcinoma that is in situ (very early-stage breast cancer). Comedocarcinoma (morphologic abnormality) Comedocarcinoma NOS (morphologic abnormality) DOID:5670 NCI:C4188 SNOMEDCT_US_2015_03_01:189709000 SNOMEDCT_US_2015_03_01:36425007 UMLS_CUI:C0334370 disease_ontology A carcinoma that is in situ (very early-stage breast cancer). url:http://www.cancer.gov/dictionary/?CdrID=44330 Comedocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:36425007 Comedocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189709000 large intestine cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. DOID:1994 DOID:1997 DOID:5672 ICD10CM:C18.9 MSH:D015179 NCI:C2955 NCI:C4978 NCI:C5105 SNOMEDCT_US_2015_03_01:363510005 SNOMEDCT_US_2015_03_01:408645001 SNOMEDCT_US_2015_03_01:93854002 UMLS_CUI:C0009402 UMLS_CUI:C0346629 UMLS_CUI:C1319315 disease_ontology An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. url:http://en.wikipedia.org/wiki/Large_intestine cribriform carcinoma Cribriform carcinoma DOID:5675 MSH:D000230 NCI:C3680 SNOMEDCT_US_2015_03_01:30156004 UMLS_CUI:C0205643 disease_ontology ductal carcinoma, cribriform type Cribriform carcinoma NCI2004_11_17:C3680 SNOMEDCT_2005_07_31:30156004 ductal carcinoma, cribriform type extragonadal nonseminomatous germ cell tumor An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. DOID:5677 NCI:C8885 UMLS_CUI:C1334582 disease_ontology primary malignant Extragonadal Nonseminoma An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous url:http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1 NCI2004_11_17:C8885 primary malignant Extragonadal Nonseminoma nerve fibre bundle defect DOID:5678 ICD9CM:362.85 Retinal nerve fiber bundle defects Retinal nerve fiber bundle deficiency (disorder) SNOMEDCT_US_2015_03_01:87194000 UMLS_CUI:C0474334 disease_ontology nerve fiber bundle defect (disorder) Retinal nerve fiber bundle deficiency (disorder) SNOMEDCT_2005_07_31:193428001 ICD9CM_2006:362.85 Retinal nerve fiber bundle defects SNOMEDCT_2005_07_31:87194000 nerve fiber bundle defect (disorder) retinal disease An eye disease that is located_in the retina. DOID:5679 ICD10CM:H35.9 ICD9CM:362.9 MSH:D012164 NCI:C26875 NCI:C62601 Retinal disorder SNOMEDCT_US_2015_03_01:193430004 SNOMEDCT_US_2015_03_01:267715002 SNOMEDCT_US_2015_03_01:29555009 SNOMEDCT_US_2015_03_01:35426003 SNOMEDCT_US_2015_03_01:399625000 UMLS_CUI:C0035309 disease_ontology retina disorder An eye disease that is located_in the retina. url:http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders NCI2004_11_17:C26875 Retinal disorder CSP2005:1114-9311 retina disorder embryonal testis carcinoma An embryonal carcinoma that is located_in the testis. DOID:5680 Embryonal carcinoma of testis NCI:C6341 UMLS_CUI:C0238448 disease_ontology embryonal carcinoma of the testis testicular embryonal carcinoma Embryonal carcinoma of testis NCI2004_11_17:C6341 An embryonal carcinoma that is located_in the testis. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma ovarian embryonal carcinoma An embryonal carcinoma that is located_in the ovary. DOID:5681 Embryonal carcinoma of ovary (disorder) Embryonal carcinoma of the Ovary NCI:C8108 SNOMEDCT_US_2015_03_01:254872007 UMLS_CUI:C0346183 disease_ontology An embryonal carcinoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma Embryonal carcinoma of ovary (disorder) SNOMEDCT_2005_07_31:254872007 Embryonal carcinoma of the Ovary NCI2004_11_17:C8108 hereditary breast ovarian cancer An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. DOID:5683 MSH:D061325 NCI:C8493 OMIM:604370 OMIM:612555 OMIM:613399 OMIM:614291 ORDO:227535 UMLS_CUI:C0677776 Xref MGI. disease_ontology An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. url:http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome url:http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 spondyloepimetaphyseal dysplasia, Sponastrime type A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. DOID:5684 NCI:C92206 OMIM:271510 Spondylar and nasal Alterations-Striated Metaphyses syndrome UMLS_CUI:C0920349 disease_ontology sponastrime dysplasia NCI2004_11_17:C3034 Spondylar and nasal Alterations-Striated Metaphyses syndrome A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. url:http://omim.org/entry/271510 url:http://www.ncbi.nlm.nih.gov/pubmed/10797420 flat adenoma syndrome DOID:5687 disease_ontology true Werner syndrome An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is caused by mutations in the WRN gene, located_in chromosome 8. DOID:5688 MSH:D014898 NCI:C3447 OMIM mapping confirmed by DO. [LS]. OMIM:277700 ORDO:902 SNOMEDCT_US_2015_03_01:190590004 SNOMEDCT_US_2015_03_01:190592007 SNOMEDCT_US_2015_03_01:51626007 UMLS_CUI:C0043119 WS Werner's syndrome adult premature ageing syndrome adult progeria disease_ontology CSP2005:1849-9804 adult progeria NCI2004_11_17:C3447 WS SNOMEDCT_2005_07_31:190592007 Werner's syndrome SNOMEDCT_2005_07_31:190590004 adult premature ageing syndrome An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is caused by mutations in the WRN gene, located_in chromosome 8. PMID:15946710 PMID:9288107 url:https://en.wikipedia.org/wiki/Werner_syndrome atypical lipomatous tumor DOID:5690 Liposarcoma, well differentiated (morphologic abnormality) NCI:C4250 SNOMEDCT_US_2015_03_01:28655007 UMLS_CUI:C1370889 disease_ontology Liposarcoma, well differentiated (morphologic abnormality) SNOMEDCT_2005_07_31:28655007 visual cortex disease DOID:5691 ICD10CM:H47.6 ICD9CM:377.7 NCI:C35275 SNOMEDCT_US_2015_03_01:128329001 SNOMEDCT_US_2015_03_01:194071005 SNOMEDCT_US_2015_03_01:413924001 SNOMEDCT_US_2015_03_01:86492004 UMLS_CUI:C0234398 disease_ontology disorder of visual cortex disorder of visual cortex (disorder) visual cortex disorder NOS (disorder) visual cortex dysfunction (finding) ICD9CM_2006:377.7 disorder of visual cortex SNOMEDCT_2005_07_31:194071005 visual cortex disorder NOS (disorder) SNOMEDCT_2005_07_31:128329001 disorder of visual cortex (disorder) SNOMEDCT_2005_07_31:86492004 visual cortex dysfunction (finding) cellular myxoid liposarcoma DOID:5692 NCI:C4252 Round cell liposarcoma (disorder) Round cell liposarcoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:404070007 SNOMEDCT_US_2015_03_01:43296007 UMLS_CUI:C0334471 disease_ontology Round cell liposarcoma (disorder) SNOMEDCT_2005_07_31:404070007 Round cell liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:43296007 adult liposarcoma DOID:5693 NCI:C7811 UMLS_CUI:C0278608 disease_ontology esophagus liposarcoma DOID:5694 Liposarcoma of esophagus NCI:C5705 UMLS_CUI:C1333456 disease_ontology Liposarcoma of esophagus NCI2004_11_17:C5705 pediatric liposarcoma DOID:5695 NCI:C8091 UMLS_CUI:C0279984 disease_ontology larynx liposarcoma A liposarcoma and sarcoma of the larynx that is located_in the larynx. DOID:5696 Liposarcoma of Larynx NCI:C6021 UMLS_CUI:C1334372 disease_ontology Liposarcoma of Larynx NCI2004_11_17:C6021 A liposarcoma and sarcoma of the larynx that is located_in the larynx. url:http://www.springerlink.com/content/k571r5t8637pg5p5/ liposarcoma of the ovary DOID:5697 Liposarcoma of Ovary NCI:C6419 UMLS_CUI:C1335165 disease_ontology Liposarcoma of Ovary NCI2004_11_17:C6419 fibroblastic liposarcoma DOID:5698 Fibroblastic Liposarcoma Fibroblastic liposarcoma (morphologic abnormality) NCI:C6509 SNOMEDCT_US_2015_03_01:128883006 UMLS_CUI:C1266130 disease_ontology Fibroblastic Liposarcoma NCI2004_11_17:C6509 Fibroblastic liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128883006 kidney liposarcoma A liposarcoma and sarcoma of kidney that is located_in the kidney. DOID:5699 Liposarcoma of kidney NCI:C6185 UMLS_CUI:C1335745 disease_ontology A liposarcoma and sarcoma of kidney that is located_in the kidney. url:http://emedicine.medscape.com/article/391272-overview Liposarcoma of kidney NCI2004_11_17:C6185 aortic valve insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. Corrigan's disease DOID:54 DOID:55 DOID:57 ICD10CM:I06.1 ICD9CM:395.1 ICD9CM:396.3 MSH:D001022 NCI:C50861 NCI:C51223 Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation SNOMEDCT_US_2015_03_01:155283004 SNOMEDCT_US_2015_03_01:194736003 SNOMEDCT_US_2015_03_01:60234000 SNOMEDCT_US_2015_03_01:78031003 UMLS_CUI:C0003504 UMLS_CUI:C0155568 UMLS_CUI:C0264774 aortic incompetence aortic insufficiency aortic regurgitation disease_ontology rheumatic aortic valve insufficiency MTHICD9_2006:395.1 Rheumatic aortic valve regurgitation Rheumatic aortic regurgitation SNOMEDCT_2005_07_31:155283004 CSP2005:1393-3890 aortic regurgitation ICD9CM_2006:395.1 Rheumatic aortic insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. url:http://en.wikipedia.org/wiki/Aortic_insufficiency gastric liposarcoma DOID:5700 Liposarcoma of the stomach NCI:C5488 UMLS_CUI:C1333778 disease_ontology Liposarcoma of the stomach NCI2004_11_17:C5488 breast liposarcoma DOID:5701 Liposarcoma of the breast NCI:C5187 UMLS_CUI:C1332632 disease_ontology Liposarcoma of the breast NCI2004_11_17:C5187 pleomorphic liposarcoma DOID:5702 MSH:D008080 NCI:C3705 Pleomorphic Liposarcoma Pleomorphic liposarcoma (disorder) Pleomorphic liposarcoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:112683004 SNOMEDCT_US_2015_03_01:404071006 UMLS_CUI:C0205825 disease_ontology Pleomorphic liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:112683004 NCI2004_11_17:C3705 Pleomorphic Liposarcoma Pleomorphic liposarcoma (disorder) SNOMEDCT_2005_07_31:404071006 mixed liposarcoma DOID:5703 NCI:C4253 SNOMEDCT_US_2015_03_01:11073003 UMLS_CUI:C0334472 disease_ontology mixed liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:11073003 mixed liposarcoma (morphologic abnormality) Sclerosing liposarcoma DOID:5704 NCI:C6507 SNOMEDCT_US_2015_03_01:28655007 SNOMEDCT_US_2015_03_01:404068003 Sclerosing Liposarcoma Sclerosing liposarcoma (disorder) UMLS_CUI:C0334469 disease_ontology SNOMEDCT_2005_07_31:404068003 Sclerosing liposarcoma (disorder) NCI2004_11_17:C6507 Sclerosing Liposarcoma spindle cell Liposarcoma DOID:5705 NCI:C27489 SNOMEDCT_US_2015_03_01:404073009 UMLS_CUI:C1275275 disease_ontology spindle cell liposarcoma (disorder) SNOMEDCT_2005_07_31:404073009 spindle cell liposarcoma (disorder) liposarcoma nonmetastatic DOID:5707 Non-metastatic Liposarcoma disease_ontology true NCI2004_11_17:C8817 Non-metastatic Liposarcoma liposarcoma metastatic DOID:5708 disease_ontology true mixed-type liposarcoma DOID:5709 NCI:C27781 UMLS_CUI:C0545074 disease_ontology median neuropathy DOID:571 ICD10CM:G56.1 ICD10CM:G56.10 ICD9CM:354.1 SNOMEDCT_US_2015_03_01:193127001 SNOMEDCT_US_2015_03_01:194512000 UMLS_CUI:C0154742 disease_ontology liposarcoma recurrent DOID:5710 disease_ontology relapsed Liposarcoma true NCI2004_11_17:C8818 relapsed Liposarcoma vulvar liposarcoma DOID:5711 NCI2009_04D:C40321 disease_ontology cutaneous liposarcoma DOID:5712 Liposarcoma of the skin NCI:C5615 UMLS_CUI:C1333175 disease_ontology Liposarcoma of the skin NCI2004_11_17:C5615 mediastinum liposarcoma A liposarcoma and mediastinum sarcoma that is located_in the mediastinum. DOID:5713 Liposarcoma of mediastinum NCI:C6614 UMLS_CUI:C1334663 disease_ontology A liposarcoma and mediastinum sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ Liposarcoma of mediastinum NCI2004_11_17:C6614 intracranial liposarcoma DOID:5714 NCI:C6973 UMLS_CUI:C1334242 disease_ontology functionless pituitary adenoma DOID:5715 NCI:C4009 NCI:C4348 Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland SNOMEDCT_US_2015_03_01:254962005 UMLS_CUI:C0338078 disease_ontology NCI2004_11_17:C4009 Non-Functioning neoplasm of the Pituitary NCI2004_11_17:C4348 Non-Secretory adenoma of the Pituitary gland hormone producing pituitary cancer DOID:5716 DOID:6254 NCI:C7047 NCI:C7911 Pituitary tumors, Hormone Producing Somatotropinoma UMLS_CUI:C0278864 UMLS_CUI:C0851693 disease_ontology growth hormone producing pituitary tumor NCI2004_11_17:C7911 Somatotropinoma NCI2004_11_17:C7047 Pituitary tumors, Hormone Producing recurrent pituitary tumor DOID:5717 disease_ontology relapsed tumor of Pituitary true NCI2004_11_17:C7912 relapsed tumor of Pituitary adrenal neuroblastoma An adrenal gland cancer that derives_from immature neuroblastic cells. DOID:5718 NCI:C4827 SNOMEDCT_US_2015_03_01:281562007 UMLS_CUI:C0559460 disease_ontology neuroblastoma of Adrenal gland NCI2004_11_17:C4827 neuroblastoma of Adrenal gland An adrenal gland cancer that derives_from immature neuroblastic cells. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma url:http://www.cancer.gov/cancertopics/types/neuroblastoma adrenal medulla cancer An adrenal gland cancer that is located_in the adrenal medulla. DOID:5719 DOID:662 ICD10CM:C74.1 NCI:C4396 NCI:C4856 SNOMEDCT_US_2015_03_01:127023007 SNOMEDCT_US_2015_03_01:363480001 SNOMEDCT_US_2015_03_01:371965009 SNOMEDCT_US_2015_03_01:93666006 UMLS_CUI:C0344456 UMLS_CUI:C0596046 adrenal medulla neoplasm adrenal medulla tumor disease_ontology malignant neoplasm of adrenal medulla malignant tumor of the Adrenal Medulla NCI2004_11_17:C4396 malignant tumor of the Adrenal Medulla An adrenal gland cancer that is located_in the adrenal medulla. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla MTHICD9_2006:194.0 malignant neoplasm of adrenal medulla CSP2005:2009-6219 adrenal medulla neoplasm mononeuritis of upper limb and mononeuritis multiplex DOID:572 ICD9CM:354 SNOMEDCT_US_2015_03_01:155072002 SNOMEDCT_US_2015_03_01:193125009 UMLS_CUI:C0154741 disease_ontology neuroblastomas of the adrenal gland and sympathetic nervous system DOID:5720 Neuroblastomas of Adrenal gland and Sympathetic nervous system disease_ontology true NCI2004_11_17:C6964 Neuroblastomas of Adrenal gland and Sympathetic nervous system optic atrophy DOID:5723 ICD10CM:H47.2 ICD10CM:H47.20 ICD9CM:377.1 ICD9CM:377.10 MSH:D009896 NCI:C34863 OMIM:165300 OMIM:165500 OMIM:258500 OMIM:311050 OMIM:605293 OMIM:610708 ORDO:98673 SNOMEDCT_US_2015_03_01:155188004 SNOMEDCT_US_2015_03_01:194042009 SNOMEDCT_US_2015_03_01:194046007 SNOMEDCT_US_2015_03_01:267742001 SNOMEDCT_US_2015_03_01:76976005 UMLS_CUI:C0029124 Xref MGI. atrophy of optic disc disease_ontology seminal vesicle cystadenoma DOID:5724 NCI:C39907 UMLS_CUI:C1519234 disease_ontology rete ovarii cystadenoma DOID:5725 NCI:C40019 UMLS_CUI:C1514907 disease_ontology uterine ligament papillary cystadenoma DOID:5726 NCI:C40142 UMLS_CUI:C3642324 disease_ontology uterine ligament cancer DOID:5727 NCI:C40133 UMLS_CUI:C1519870 disease_ontology tumor of the uterine Ligament NCI2004_11_17:C40133 tumor of the uterine Ligament diffuse peritoneal leiomyomatosis DOID:5728 NCI:C3958 SNOMEDCT_US_2015_03_01:62557001 SNOMEDCT_US_2015_03_01:703634007 UMLS_CUI:C0267785 disease_ontology leiomyomatosis peritonealis disseminata (disorder) SNOMEDCT_2005_07_31:62557001 leiomyomatosis peritonealis disseminata (disorder) intravenous leiomyomatosis DOID:5729 Intravenous leiomyomatosis Intravenous leiomyomatosis (disorder) NCI:C4518 NCI:C5356 SNOMEDCT_US_2015_03_01:254883003 UMLS_CUI:C0346200 disease_ontology Intravenous leiomyomatosis NCI2004_11_17:C4518 Intravenous leiomyomatosis (disorder) SNOMEDCT_2005_07_31:254883003 nerve compression syndrome Compression neuropathy DOID:573 DOID:7318 Entrapment Neuropathy MSH:D009408 NCI:C27221 SNOMEDCT_US_2015_03_01:155085004 SNOMEDCT_US_2015_03_01:45781009 UMLS_CUI:C0027743 UMLS_CUI:C1510429 disease_ontology entrapment neuropathy peripheral nerve entrapment syndrome Entrapment Neuropathy NCI2004_11_17:C27221 Compression neuropathy SNOMEDCT_2005_07_31:155085004 SNOMEDCT_2005_07_31:45781009 peripheral nerve entrapment syndrome salpingitis isthmica nodosa DOID:5730 NCI:C40119 SNOMEDCT_US_2015_03_01:36742000 Salpingitis Isthmica Nodosa Salpingitis isthmica nodosa (disorder) UMLS_CUI:C0269043 disease_ontology NCI2004_11_17:C40119 Salpingitis Isthmica Nodosa SNOMEDCT_2005_07_31:36742000 Salpingitis isthmica nodosa (disorder) chronic salpingitis DOID:5731 ICD10CM:N70.11 NCI:C40118 SNOMEDCT_US_2015_03_01:55551005 UMLS_CUI:C0269041 chronic salpingitis (disorder) disease_ontology SNOMEDCT_2005_07_31:55551005 chronic salpingitis (disorder) pyosalpinx DOID:5732 ICD10CM:N70 NCI:C34968 Pyosalpingitis Pyosalpinx (disorder) SNOMEDCT_US_2015_03_01:155974004 SNOMEDCT_US_2015_03_01:266651008 SNOMEDCT_US_2015_03_01:35263009 SNOMEDCT_US_2015_03_01:397810006 SNOMEDCT_US_2015_03_01:9400007 UMLS_CUI:C0034220 disease_ontology Pyosalpingitis SNOMEDCT_2005_07_31:9400007 Pyosalpingitis SNOMEDCT_2005_07_31:35263009 Pyosalpinx (disorder) SNOMEDCT_2005_07_31:397810006 salpingitis DOID:5733 ICD10CM:N70.91 MSH:D012488 NCI:C26880 SNOMEDCT_US_2015_03_01:155968004 SNOMEDCT_US_2015_03_01:198151009 SNOMEDCT_US_2015_03_01:266648001 SNOMEDCT_US_2015_03_01:88157006 UMLS_CUI:C0036130 disease_ontology secondary myelofibrosis DOID:5738 disease_ontology true peripheral nervous system disease A nervous system disease that affects the peripheral nervous system. DOID:13069 DOID:574 ICD10CM:G64 ICD9CM:350-359.99 MSH:D010523 NCI:C27580 NCI:C27587 SNOMEDCT_US_2015_03_01:155064004 SNOMEDCT_US_2015_03_01:155080009 SNOMEDCT_US_2015_03_01:155100008 SNOMEDCT_US_2015_03_01:193088006 SNOMEDCT_US_2015_03_01:193264002 SNOMEDCT_US_2015_03_01:264554005 SNOMEDCT_US_2015_03_01:267706009 SNOMEDCT_US_2015_03_01:302226006 SNOMEDCT_US_2015_03_01:42658009 UMLS_CUI:C0031117 UMLS_CUI:C1335029 disease_ontology peripheral nerve disease peripheral neuropathy MTH:516 peripheral nerve disease A nervous system disease that affects the peripheral nervous system. url:http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no CSP2005:2042-6617 peripheral neuropathy small intestinal vasoactive intestinal peptide producing tumor DOID:5740 NCI:C27455 UMLS_CUI:C1336009 disease_ontology small intestinal VIP Producing tumor NCI2004_11_17:C27455 small intestinal VIP Producing tumor pancreatic vasoactive intestinal peptide producing tumor DOID:5741 NCI:C27454 NCI:C95599 UMLS_CUI:C2033037 disease_ontology pancreatic VIP Producing tumor NCI2004_11_17:C27454 pancreatic VIP Producing tumor pancreatic acinar cell adenocarcinoma A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. DOID:5742 NCI:C7977 UMLS_CUI:C0279661 disease_ontology pancreatic acinar cell carcinoma A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. url:http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas url:http://www.pathologyoutlines.com/topic/pancreasacinar.html NCI2004_11_17:C7977 pancreatic acinar cell carcinoma acinic cell breast carcinoma DOID:5743 NCI:C40367 UMLS_CUI:C1515868 disease_ontology ovary serous adenocarcinoma An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). DOID:5744 DOID:5745 NCI:C40025 NCI:C7550 UMLS_CUI:C1335177 UMLS_CUI:C1518234 disease_ontology malignant ovarian serous tumor serous carcinoma of Ovary NCI2004_11_17:C7550 serous carcinoma of Ovary An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Serous_carcinoma ovarian serous cystadenocarcinoma An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. DOID:5746 NCI:C7978 UMLS_CUI:C0279663 disease_ontology serous cystadenoma An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. url:http://cancergenome.nih.gov/cancersselected/ovarian url:http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma uterine ligament serous adenocarcinoma DOID:5747 NCI:C40136 UMLS_CUI:C1519872 disease_ontology rheumatic pulmonary valve disease DOID:5748 ICD10CM:I09.89 ICD9CM:397.1 Rheumatic disease of pulmonary valve Rheumatic disease of pulmonary valve (disorder) Rheumatic pulmonary incompetence Rheumatic pulmonary valve disease NOS (disorder) SNOMEDCT_US_2015_03_01:18687009 SNOMEDCT_US_2015_03_01:194747005 SNOMEDCT_US_2015_03_01:266283005 UMLS_CUI:C0155579 disease_ontology Rheumatic pulmonary incompetence SNOMEDCT_2005_07_31:266283005 Rheumatic disease of pulmonary valve (disorder) SNOMEDCT_2005_07_31:18687009 ICD9CM_2006:397.1 Rheumatic disease of pulmonary valve Rheumatic pulmonary valve disease NOS (disorder) SNOMEDCT_2005_07_31:194747005 pulmonary valve disease DOID:5749 ICD9CM:424.3 NCI:C78579 SNOMEDCT_US_2015_03_01:195001000 SNOMEDCT_US_2015_03_01:76267008 UMLS_CUI:C0034087 disease_ontology pulmonary valve disorder ICD9CM_2006:424.3 pulmonary valve disorder uterine corpus serous adenocarcinoma A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. DOID:5750 NCI:C27838 UMLS_CUI:C1336921 disease_ontology uterine papillary serous carcinoma uterine serous carcinoma A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. url:http://en.wikipedia.org/wiki/Uterine_serous_carcinoma pancreatic serous cystadenocarcinoma DOID:5751 NCI:C5724 UMLS_CUI:C1335315 disease_ontology serous cystadenocarcinoma of pancreas NCI2004_11_17:C5724 serous cystadenocarcinoma of pancreas cervical serous adenocarcinoma DOID:5752 NCI:C40201 UMLS_CUI:C1516431 disease_ontology endocervicitis DOID:5757 Endocervicitis (disorder) Endocervicitis unspecified (disorder) NCI:C26762 SNOMEDCT_US_2015_03_01:155980007 SNOMEDCT_US_2015_03_01:198201006 SNOMEDCT_US_2015_03_01:266654000 SNOMEDCT_US_2015_03_01:31354001 UMLS_CUI:C0014127 disease_ontology Endocervicitis (disorder) SNOMEDCT_2005_07_31:31354001 Endocervicitis unspecified (disorder) SNOMEDCT_2005_07_31:198201006 malignant mesenchymoma DOID:5758 MSH:C535700 Mesenchymoma, malignant (morphologic abnormality) NCI:C4268 SNOMEDCT_US_2015_03_01:89623007 UMLS_CUI:C0334492 disease_ontology Mesenchymoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:89623007 sebaceous gland neoplasm DOID:5759 MSH:D012626 NCI:C3363 SNOMEDCT_US_2015_03_01:126491004 Sebaceous neoplasm UMLS_CUI:C0036503 disease_ontology NCI2004_11_17:C3363 Sebaceous neoplasm proteinuria DOID:576 ICD10CM:R80 ICD10CM:R80.9 ICD9CM:791.0 MSH:D011507 NCI:C38012 SNOMEDCT_US_2015_03_01:144515004 SNOMEDCT_US_2015_03_01:158565005 SNOMEDCT_US_2015_03_01:158568007 SNOMEDCT_US_2015_03_01:167279003 SNOMEDCT_US_2015_03_01:207310001 SNOMEDCT_US_2015_03_01:207315006 SNOMEDCT_US_2015_03_01:232691000 SNOMEDCT_US_2015_03_01:236719005 SNOMEDCT_US_2015_03_01:29738008 UMLS_CUI:C0033687 disease_ontology sebaceous breast carcinoma DOID:5760 NCI:C40369 UMLS_CUI:C1519207 disease_ontology vulvar sebaceous carcinoma DOID:5761 NCI:C40309 UMLS_CUI:C1520094 disease_ontology lung clear cell-sugar-tumor DOID:5763 NCI:C38152 UMLS_CUI:C1333065 disease_ontology lung meningioma DOID:5764 DOID:6205 NCI:C5276 NCI:C5668 UMLS_CUI:C1334450 UMLS_CUI:C1335488 disease_ontology lung primary meningioma primary pulmonary meningioma pulmonary meningioma NCI2004_11_17:C5668 pulmonary meningioma NCI2004_11_17:C5276 primary pulmonary meningioma primary ectopic meningioma DOID:5765 disease_ontology true pulmonary sclerosing hemangioma DOID:5766 MSH:D047868 NCI:C5656 Pneumocytoma SNOMEDCT_US_2015_03_01:707365008 UMLS_CUI:C1334455 disease_ontology NCI2004_11_17:C5656 Pneumocytoma hilar lung neoplasm DOID:5767 NCI:C5671 SNOMEDCT_US_2015_03_01:126707007 UMLS_CUI:C1290358 disease_ontology lung Hilum tumor neoplasm of hilus of lung (disorder) NCI2004_11_17:C5671 lung Hilum tumor SNOMEDCT_2005_07_31:126707007 neoplasm of hilus of lung (disorder) Nager acrofacial dysostosis AFD An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. DOID:5768 NCI:C35795 Nager syndrome OMIM mapping confirmed by DO. [SN]. OMIM:154400 UMLS_CUI:C1332140 acrofacial dysostosis 1, Nager type disease_ontology preaxial acrofacial dysostosis preaxial manibulofacial dysostosis An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. url:http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis url:http://ghr.nlm.nih.gov/condition/nager-syndrome url:http://www.faces-cranio.org/Disord/Nager.htm url:http://www.nagerormillersynd.com/ verruciform xanthoma of skin Cutaneous Verruciform Xanthoma DOID:5769 NCI:C4478 SNOMEDCT_US_2015_03_01:254756007 SNOMEDCT_US_2015_03_01:402477000 SNOMEDCT_US_2015_03_01:66174008 UMLS_CUI:C0346054 Verruciform xanthoma (disorder) Verruciform xanthoma (morphologic abnormality) Verruciform xanthoma of skin (disorder) disease_ontology SNOMEDCT_2005_07_31:402477000 Verruciform xanthoma (disorder) SNOMEDCT_2005_07_31:254756007 Verruciform xanthoma of skin (disorder) Cutaneous Verruciform Xanthoma NCI2004_11_17:C4478 SNOMEDCT_2005_07_31:66174008 Verruciform xanthoma (morphologic abnormality) Mycobacterium avium-intracellulare lymphadenitis DOID:5770 MAI lymphadenitis disease_ontology true Mycobacterium avium complex lymphadenitis DOID:5771 MAC lymphadenitis disease_ontology true central nervous system hematologic cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. CNS hematopoietic tumor DOID:5772 NCI:C5503 UMLS_CUI:C1332882 disease_ontology hematopoietic neoplasm of central nervous system A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. url:http://www.oncologystat.com/journals/ew/YSONC/Central_Nervous_System_Disease_in_Hematologic_Malignancies_Historical_Perspective_and_Practical_Applications.html CNS hematopoietic tumor NCI2004_11_17:C5503 oral submucous fibrosis DOID:5773 DOID:9679 ICD10CM:K13.5 ICD9CM:528.8 MSH:D009914 NCI:C34866 Oral cavity Submucous Fibrosis Oral submucosal fibrosis (disorder) Oral submucosal fibrosis, including of tongue SNOMEDCT_US_2015_03_01:32883009 UMLS_CUI:C0029171 UMLS_CUI:C0029172 disease_ontology Oral submucosal fibrosis (disorder) SNOMEDCT_2005_07_31:32883009 ICD9CM_2006:528.8 Oral submucosal fibrosis, including of tongue giant hemangioma DOID:5774 NCI:C27777 UMLS_CUI:C1333817 disease_ontology cavernous hemangioma of colon Colonic Cavernous hemangioma DOID:5775 NCI:C5395 UMLS_CUI:C1333086 disease_ontology Colonic Cavernous hemangioma NCI2004_11_17:C5395 cavernous hemangioma of face DOID:5776 NCI:C7053 UMLS_CUI:C1332863 disease_ontology rectum neuroendocrine neoplasm DOID:5777 NCI:C5698 UMLS_CUI:C1335686 disease_ontology neuroendocrine tumor of rectum NCI2004_11_17:C5698 neuroendocrine tumor of rectum urination disorder DOID:578 disease_ontology true urination disorder CSP2005:3047-0432 urination disorder atrophic flaccid tympanic membrane DOID:5781 ICD10CM:H73.81 ICD9CM:384.81 SNOMEDCT_US_2015_03_01:194322005 SNOMEDCT_US_2015_03_01:38645004 UMLS_CUI:C0155470 atrophic flaccid tympanic membrane (disorder) atrophic flaccid tympanic membrane NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:194322005 atrophic flaccid tympanic membrane NOS (disorder) SNOMEDCT_2005_07_31:38645004 atrophic flaccid tympanic membrane (disorder) tympanic membrane disease DOID:5782 ICD10CM:H73.9 ICD10CM:H73.90 ICD9CM:384.9 SNOMEDCT_US_2015_03_01:194326008 SNOMEDCT_US_2015_03_01:21426000 UMLS_CUI:C0041825 disease_ontology esophageal neuroendocrine tumor DOID:5784 NCI:C5821 UMLS_CUI:C1333462 disease_ontology neuroendocrine tumor of esophagus NCI2004_11_17:C5821 neuroendocrine tumor of esophagus recurrent hepatoblastoma DOID:5785 disease_ontology relapsed Hepatoblastoma true NCI2004_11_17:C8643 relapsed Hepatoblastoma recurrent childhood cancer of liver DOID:5786 disease_ontology relapsed pediatric cancer of the Liver true NCI2004_11_17:C7839 relapsed pediatric cancer of the Liver mixed hepatoblastoma DOID:5789 NCI:C7097 UMLS_CUI:C1334784 disease_ontology mixed epithelial and mesenchymal hepatoblastoma resectable hepatoblastoma DOID:5790 disease_ontology true hepatoblastoma with pure fetal epithelial differentiation DOID:5792 disease_ontology true nonresectable hepatoblastoma DOID:5796 Non-Resectable Hepatoblastoma disease_ontology true NCI2004_11_17:C8641 Non-Resectable Hepatoblastoma mixed hepatoblastoma with teratoid features DOID:5797 disease_ontology true macrotrabecular hepatoblastoma DOID:5798 NCI:C7095 UMLS_CUI:C1334543 disease_ontology acute urate nephropathy DOID:580 ICD9CM:274.11 SNOMEDCT_US_2015_03_01:16410004 SNOMEDCT_US_2015_03_01:190831009 SNOMEDCT_US_2015_03_01:197793002 SNOMEDCT_US_2015_03_01:267441009 UMLS_CUI:C0403719 Uric acid nephrolithiasis Uric acid nephropathy (disorder) [Ambiguous] Uric acid urolithiasis (disorder) disease_ontology ICD9CM_2006:274.11 Uric acid nephrolithiasis SNOMEDCT_2005_07_31:16410004 Uric acid nephropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:267441009 Uric acid urolithiasis (disorder) SNOMEDCT_2005_07_31:190831009 Uric acid nephrolithiasis hepatoblastoma with combined fetal epithelial differentiation DOID:5802 disease_ontology true discrete subaortic stenosis DOID:5804 MSH:D021922 UMLS_CUI:C0012628 disease_ontology subvalvular aortic stenosis DOID:5805 MSH:D001020 NCI:C85172 UMLS_CUI:C0003500 disease_ontology stork bite DOID:5806 Salmon patch nevus (disorder) Unna's nevus disease_ontology SNOMEDCT_2005_07_31:254211001 Salmon patch nevus (disorder) NCI2004_11_17:C4399 Unna's nevus childhood parosteal osteogenic sarcoma DOID:5809 NCI:C6589 UMLS_CUI:C1332994 disease_ontology gouty nephropathy DOID:581 disease_ontology true adenosine deaminase deficiency A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. ADA CSP:1560-6660 DOID:5810 ICD10CM:D81.3 NCI:C3962 OMIM:102700 SNOMEDCT_US_2015_03_01:124523006 SNOMEDCT_US_2015_03_01:190738006 SNOMEDCT_US_2015_03_01:190999009 SNOMEDCT_US_2015_03_01:44940001 UMLS_CUI:C0268124 disease_ontology A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency MHC class II deficiency BLSII DOID:5812 ICD10CM:D81.6 MSH:D016511 NCI:C3895 OMIM mapping confirmed by DO. [SN]. OMIM:209920 SCID due to absent class II HLA antigens (disorder) SNOMEDCT_US_2015_03_01:71904008 UMLS_CUI:C0242583 bare lymphocyte syndrome type II disease_ontology SCID due to absent class II HLA antigens (disorder) SNOMEDCT_2005_07_31:71904008 CSP2005:1560-6660 bare lymphocyte syndrome type II purine nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. DOID:5813 ICD10CM:D81.5 MSH:C562587 NCI:C3963 OMIM mapping confirmed by DO. [SN]. OMIM:613179 PNP deficiency Purine nucleoside phosphorylase deficiency Purine-Nucleoside Phosphorylase deficiency SNOMEDCT_US_2015_03_01:124271005 SNOMEDCT_US_2015_03_01:191000008 SNOMEDCT_US_2015_03_01:60743005 UMLS_CUI:C0268125 deficiency of inosine phosphorylase disease_ontology SNOMEDCT_2005_07_31:124271005 deficiency of inosine phosphorylase NCI2004_11_17:C3963 Purine-Nucleoside Phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. url:http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency SNOMEDCT_2005_07_31:60743005 deficiency of inosine phosphorylase Purine nucleoside phosphorylase deficiency SNOMEDCT_2005_07_31:191000008 cerebral lymphoma A cerebrum cancer that affects the lymph cells and derives_from the brain. DOID:5814 DOID:5815 NCI:C7611 SNOMEDCT_US_2015_03_01:276836002 UMLS_CUI:C0240803 brain primary lymphoma disease_ontology primary Lymphoma of Cerebrum primary cerebral lymphoma (disorder) NCI2004_11_17:C3883 primary Lymphoma of Cerebrum SNOMEDCT_2005_07_31:276836002 primary cerebral lymphoma (disorder) A cerebrum cancer that affects the lymph cells and derives_from the brain. url:http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma url:http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1 url:http://www.ncbi.nlm.nih.gov/pubmed/10563426 url:http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm ALPS-associated lymphoma DOID:5818 disease_ontology true localized lymphoma DOID:5819 disease_ontology true hemoglobinuria DOID:582 ICD10CM:R82.3 ICD9CM:791.2 MSH:D006456 NCI:C34677 SNOMEDCT_US_2015_03_01:158571004 SNOMEDCT_US_2015_03_01:207317003 SNOMEDCT_US_2015_03_01:68600005 UMLS_CUI:C0019048 disease_ontology composite lymphoma A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. DOID:5820 MSH:D058617 NCI:C38661 UMLS_CUI:C0545080 disease_ontology A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. url:http://www.cancer.gov/dictionary/?CdrID=633086 methotrexate-associated lymphoproliferation DOID:5821 NCI:C7184 UMLS_CUI:C1334749 disease_ontology gray zone lymphoma A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. DOID:5822 NCI:C37869 UMLS_CUI:C1333878 disease_ontology A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. url:http://en.wikipedia.org/wiki/Gray_zone_lymphoma pediatric lymphoma DOID:5823 NCI:C5165 UMLS_CUI:C1332979 disease_ontology adult lymphoma DOID:5825 NCI:C7587 UMLS_CUI:C1332206 disease_ontology breast lymphoma DOID:5826 Lymphoma of the breast SNOMEDCT_US_2015_03_01:278052009 UMLS_CUI:C0349669 disease_ontology lymphoma of breast malignant lymphoma of breast (disorder) Lymphoma of the breast NCI2004_11_17:C4671 SNOMEDCT_2005_07_31:278052009 malignant lymphoma of breast (disorder) endometrioid ovary carcinoma DOID:5828 NCI:C7979 Ovarian endometrioid carcinoma SNOMEDCT_US_2015_03_01:254852002 UMLS_CUI:C0346163 disease_ontology endometrioid carcinoma of ovary endometrioid carcinoma ovary (disorder) NCI2004_11_17:C7979 Ovarian endometrioid carcinoma SNOMEDCT_2005_07_31:254852002 endometrioid carcinoma ovary (disorder) uterine ligament endometrioid adenocarcinoma DOID:5829 NCI:C40138 UMLS_CUI:C1519868 disease_ontology hemolytic anemia ANEMIA HEMOLYTIC DOID:583 ICD10CM:D55-D59 MSH:D000743 NCI:C34376 OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. OMIM:266120 OMIM:612631 SNOMEDCT_US_2015_03_01:191231008 SNOMEDCT_US_2015_03_01:191416001 SNOMEDCT_US_2015_03_01:61261009 UMLS_CUI:C0002878 disease_ontology ANEMIA HEMOLYTIC MTH:NOCODE cervical endometrioid adenocarcinoma DOID:5830 NCI:C6343 UMLS_CUI:C1332913 disease_ontology endometrioid carcinoma of the Cervix Uteri NCI2004_11_17:C6343 endometrioid carcinoma of the Cervix Uteri fallopian tube endometrioid adenocarcinoma DOID:1972 DOID:5831 NCI:C40111 NCI:C6279 UMLS_CUI:C1333592 UMLS_CUI:C1517113 disease_ontology endometrioid carcinoma of the fallopian tube fallopian tube endometrioid cancer fallopian tube endometrioid neoplasm NCI2004_11_17:C6279 endometrioid carcinoma of the fallopian tube metastatic endometrioid carcinoma DOID:5832 disease_ontology true spermatocytoma DOID:5834 NCI:C39921 SNOMEDCT_US_2015_03_01:9294008 Spermatocytic Seminoma Spermatocytic seminoma (morphologic abnormality) UMLS_CUI:C0334517 disease_ontology SNOMEDCT_2005_07_31:9294008 Spermatocytic seminoma (morphologic abnormality) NCI2004_11_17:C4284 Spermatocytic Seminoma extragonadal seminoma DOID:5838 DOID:6136 NCI2009_04D:C7327 NCI:C7327 UMLS_CUI:C1333502 disease_ontology primary extragonadal seminoma testis seminoma DOID:5842 MSH:D018239 NCI:C7328 NCI:C9309 SNOMEDCT_US_2015_03_01:154532006 SNOMEDCT_US_2015_03_01:188228003 SNOMEDCT_US_2015_03_01:189840000 SNOMEDCT_US_2015_03_01:189841001 SNOMEDCT_US_2015_03_01:255107005 SNOMEDCT_US_2015_03_01:269603004 SNOMEDCT_US_2015_03_01:36741007 SNOMEDCT_US_2015_03_01:443675005 Seminoma of testis Seminoma of testis (disorder) Seminoma testis UMLS_CUI:C0036631 disease_ontology testicular Seminoma Pure SNOMEDCT_2005_07_31:188228003 Seminoma of testis NCI2004_11_17:C7328 testicular Seminoma Pure SNOMEDCT_2005_07_31:255107005 Seminoma of testis (disorder) SNOMEDCT_2005_07_31:154532006 Seminoma testis SNOMEDCT_2005_07_31:269603004 Seminoma testis posteroinferior myocardial infarction DOID:5843 NCI:C36068 UMLS_CUI:C3642318 disease_ontology myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. DOID:5844 EFO:0000612 ICD10CM:I21 ICD10CM:I22 MSH:D009203 Myocardial infarct NCI:C27996 OMIM:608446 OMIM:608557 SNOMEDCT_US_2015_03_01:155304006 SNOMEDCT_US_2015_03_01:194796000 SNOMEDCT_US_2015_03_01:22298006 SNOMEDCT_US_2015_03_01:233824008 SNOMEDCT_US_2015_03_01:266288001 SNOMEDCT_US_2015_03_01:66514008 UMLS_CUI:C0027051 Xref MGI. disease_ontology heart attack CSP2005:1393-3417 heart attack Myocardial infarct SNOMEDCT_2005_07_31:266288001 A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. PMID:17951287 url:https://en.wikipedia.org/wiki/Myocardial_infarction anterolateral myocardial infarction DOID:5845 MSH:D056988 UMLS_CUI:C0262564 disease_ontology septal myocardial infarction DOID:5846 UMLS_CUI:C0746727 disease_ontology posterior myocardial infarction DOID:5847 Posterior myocardial infarction NOS (disorder) SNOMEDCT_US_2015_03_01:194800006 UMLS_CUI:C0340319 disease_ontology Posterior myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194800006 apical myocardial infarction DOID:5848 NCI:C36073 UMLS_CUI:C3642319 disease_ontology subendocardial myocardial infarction DOID:5849 NCI:C35305 UMLS_CUI:C3642476 disease_ontology nephrolithiasis DOID:585 EFO:0004253 ICD10CM:N20 ICD10CM:N20.2 ICD9CM:592 NEPHROLITHIASIS, CALCIUM OXALATE OMIM mapping confirmed by DO. [SN]. OMIM:167030 SNOMEDCT_US_2015_03_01:155867005 SNOMEDCT_US_2015_03_01:197792007 SNOMEDCT_US_2015_03_01:197796005 SNOMEDCT_US_2015_03_01:266556005 SNOMEDCT_US_2015_03_01:266622009 Stone - kidney/ureter UMLS_CUI:C0156257 UROLITHIASIS, CALCIUM OXALATE calculus of kidney and ureter (disorder) disease_ontology kidney stones SNOMEDCT_2005_07_31:155867005 Stone - kidney/ureter SNOMEDCT_2005_07_31:266556005 calculus of kidney and ureter (disorder) SNOMEDCT_2005_07_31:266622009 Stone - kidney/ureter inferior myocardial infarction DOID:5850 Inferior myocardial infarction NOS (disorder) MSH:D056989 SNOMEDCT_US_2015_03_01:194804002 UMLS_CUI:C0340305 disease_ontology Inferior myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194804002 posterolateral myocardial infarction DOID:5851 NCI:C35672 UMLS_CUI:C3642463 disease_ontology inferolateral myocardial infarct DOID:5852 NCI:C35673 UMLS_CUI:C3537017 disease_ontology lateral myocardial infarction DOID:5853 Lateral myocardial infarction NOS (disorder) SNOMEDCT_US_2015_03_01:194801005 UMLS_CUI:C0340312 disease_ontology Lateral myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194801005 silent myocardial infarction DOID:5854 NCI:C35400 SNOMEDCT_US_2015_03_01:194796000 SNOMEDCT_US_2015_03_01:233843008 Silent myocardial infarction Silent myocardial infarction (disorder) UMLS_CUI:C0340324 disease_ontology SNOMEDCT_2005_07_31:233843008 Silent myocardial infarction (disorder) SNOMEDCT_2005_07_31:194796000 Silent myocardial infarction anteroseptal myocardial infarction DOID:5855 MSH:D056988 UMLS_CUI:C0262565 disease_ontology secondary chondrosarcoma DOID:5857 disease_ontology true periosteal chondrosarcoma DOID:5859 Periosteal chondrosarcoma disease_ontology Periosteal chondrosarcoma SNOMEDCT_2005_07_31:26211003 myxoid chondrosarcoma Myxoid chondrosarcoma (morphologic abnormality) DOID:5861 Myxoid chondrosarcoma (morphologic abnormality) NCI:C4303 SNOMEDCT_US_2015_03_01:189881008 SNOMEDCT_US_2015_03_01:75622000 UMLS_CUI:C0334551 disease_ontology Myxoid chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:75622000 Myxoid chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:189881008 localized chondrosarcoma DOID:5862 NCI:C8778 UMLS_CUI:C0855011 disease_ontology recurrent chondrosarcoma DOID:5863 disease_ontology relapsed chondrosarcoma true NCI2004_11_17:C8780 relapsed chondrosarcoma metastatic chondrosarcoma DOID:5865 disease_ontology true juxtacortical chondrosarcoma DOID:5866 Juxtacortical chondrosarcoma (morphologic abnormality) NCI:C7357 SNOMEDCT_US_2015_03_01:26211003 UMLS_CUI:C0334549 disease_ontology Juxtacortical chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:26211003 clear cell chondrosarcoma Clear cell chondrosarcoma Clear cell chondrosarcoma (morphologic abnormality) DOID:5867 NCI:C6475 SNOMEDCT_US_2015_03_01:128775007 UMLS_CUI:C1266167 disease_ontology Clear cell chondrosarcoma NCI2004_11_17:C6475 Clear cell chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128775007 tuberculous lung cavity A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. DOID:587 cavitary tuberculosis disease_ontology true tuberculous cavity of lung A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. url:http://www.bmj.com/cgi/reprint/1/4177/115.pdf eosinophilic pneumonia A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. DOID:5870 ICD10CM:J82 MSH:D011657 NCI:C35150 Pneumonia, eosinophilic SNOMEDCT_US_2015_03_01:196145005 SNOMEDCT_US_2015_03_01:367542003 SNOMEDCT_US_2015_03_01:91053000 UMLS_CUI:C1527407 disease_ontology A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. url:http://en.wikipedia.org/wiki/Eosinophilic_pneumonia MTHICD9_2006:518.3 Pneumonia, eosinophilic placental necrosis DOID:5872 disease_ontology true retroperitoneal germ cell neoplasm DOID:5874 NCI:C6447 UMLS_CUI:C1335776 disease_ontology germ cell tumor of Retroperitoneum NCI2004_11_17:C6447 germ cell tumor of Retroperitoneum retroperitoneal cancer An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. DOID:12340 DOID:5875 DOID:9860 ICD10CM:C48 ICD10CM:C48.0 ICD9CM:158 ICD9CM:158.0 MSH:D012186 NCI:C3357 NCI:C3537 SNOMEDCT_US_2015_03_01:126872008 SNOMEDCT_US_2015_03_01:187801002 SNOMEDCT_US_2015_03_01:187805006 SNOMEDCT_US_2015_03_01:187817008 SNOMEDCT_US_2015_03_01:254617008 SNOMEDCT_US_2015_03_01:359767009 SNOMEDCT_US_2015_03_01:359770008 SNOMEDCT_US_2015_03_01:363420003 SNOMEDCT_US_2015_03_01:94092006 UMLS_CUI:C0035358 UMLS_CUI:C0153464 UMLS_CUI:C0153465 disease_ontology malignant neoplasm of retroperitoneum malignant neoplasm of retroperitoneum and peritoneum malignant neoplasm of retroperitoneum and peritoneum NOS (disorder) malignant retroperitoneal cancer malignant tumor of peritoneum and retroperitoneum malignant tumor of peritoneum and retroperitoneum (disorder) neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm tumor of retroperitoneum (disorder) SNOMEDCT_2005_07_31:187801002 malignant tumor of peritoneum and retroperitoneum (disorder) CSP2005:2005-3788 retroperitoneal neoplasm ICD9CM_2006:158.0 malignant neoplasm of retroperitoneum ICD9CM_2006:158 malignant neoplasm of retroperitoneum and peritoneum SNOMEDCT_2005_07_31:359767009 neoplasm of retroperitoneum SNOMEDCT_2005_07_31:187817008 malignant neoplasm of retroperitoneum and peritoneum NOS (disorder) SNOMEDCT_2005_07_31:359770008 neoplasm of the retroperitoneum SNOMEDCT_2005_07_31:254617008 tumor of retroperitoneum (disorder) An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. url:http://en.wikipedia.org/wiki/Retroperitoneal_space NCI2004_11_17:C3357 retroperitoneal neoplasm SNOMEDCT_2005_07_31:126872008 neoplasm of the retroperitoneum apocrine sweat gland neoplasm Apocrine tumor DOID:5876 NCI:C6798 UMLS_CUI:C1332318 disease_ontology Apocrine tumor NCI2004_11_17:C6798 endocardium cancer DOID:14538 DOID:5877 NCI:C4570 NCI:C5346 SNOMEDCT_US_2015_03_01:126731002 SNOMEDCT_US_2015_03_01:363436001 SNOMEDCT_US_2015_03_01:93778001 UMLS_CUI:C0346612 UMLS_CUI:C1290401 disease_ontology malignant Endocardial tumor malignant neoplasm of endocardium malignant tumor of endocardium NCI2004_11_17:C4570 malignant Endocardial tumor MTHICD9_2006:164.1 SNOMEDCT_2005_07_31:93778001 malignant neoplasm of endocardium benign intermediate mesothelioma DOID:5884 NCI:C7635 UMLS_CUI:C1337012 Well-differentiated Papillary tumor of Mesothelium disease_ontology NCI2004_11_17:C7635 Well-differentiated Papillary tumor of Mesothelium mixed embryonal carcinoma and teratoma with seminoma of the testis DOID:5886 disease_ontology mixed Embryonal carcinoma and teratoma with Seminoma of testis true NCI2004_11_17:C6352 mixed Embryonal carcinoma and teratoma with Seminoma of testis congenital cystic kidney disease DOID:5888 disease_ontology true anaplastic ependymoma DOID:5889 Ependymoma, anaplastic (morphologic abnormality) Undifferentiated Ependymoma anaplastic ependymoma (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:134172003 anaplastic ependymoma (morphologic abnormality) NCI2004_11_17:C4049 Undifferentiated Ependymoma Ependymoma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:21589007 congenital hemolytic anemia DOID:589 ICD10CM:D58.9 ICD9CM:282 ICD9CM:282.9 MSH:D000745 NCI:C34379 SNOMEDCT_US_2015_03_01:154794008 SNOMEDCT_US_2015_03_01:154801000 SNOMEDCT_US_2015_03_01:191208008 SNOMEDCT_US_2015_03_01:267556002 SNOMEDCT_US_2015_03_01:267558001 SNOMEDCT_US_2015_03_01:38911009 SNOMEDCT_US_2015_03_01:42601008 UMLS_CUI:C0002881 disease_ontology hereditary hemolytic anemia malignant adult ependymoma DOID:5890 NCI:C8269 UMLS_CUI:C0280787 disease_ontology childhood malignant mesenchymoma DOID:5893 NCI:C8097 UMLS_CUI:C0279991 disease_ontology adult malignant mesenchymoma DOID:5894 NCI:C7947 UMLS_CUI:C0279548 disease_ontology clear cell cystadenofibroma Clear cell cystadenofibroma DOID:5895 NCI:C8988 SNOMEDCT_US_2015_03_01:58161009 UMLS_CUI:C1377853 disease_ontology Clear cell cystadenofibroma SNOMEDCT_2005_07_31:58161009 ovarian clear cell cystadenofibroma DOID:5896 NCI:C40086 UMLS_CUI:C1518695 disease_ontology ovarian clear cell adenofibroma DOID:5897 NCI:C40085 UMLS_CUI:C1518694 disease_ontology meningeal melanocytoma DOID:5900 Leptomeningeal melanocytoma NCI:C4662 SNOMEDCT_US_2015_03_01:128730009 SNOMEDCT_US_2015_03_01:277527003 UMLS_CUI:C1266113 disease_ontology melanocytoma of meninges (disorder) Leptomeningeal melanocytoma NCI2004_11_17:C4662 SNOMEDCT_2005_07_31:277527003 melanocytoma of meninges (disorder) penis non-invasive verrucous carcinoma DOID:5907 NCI:C27791 Non-Invasive Penile verrucous carcinoma UMLS_CUI:C1334984 disease_ontology NCI2004_11_17:C27791 Non-Invasive Penile verrucous carcinoma penis verrucous carcinoma DOID:5908 NCI:C6982 UMLS_CUI:C1336955 disease_ontology verrucous squamous carcinoma of penis NCI2004_11_17:C6982 verrucous squamous carcinoma of penis phobic disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. DOID:591 ICD10CM:F40 ICD10CM:F40.9 ICD9CM:300.2 ICD9CM:300.20 MSH:D010698 NCI:C35420 SNOMEDCT_US_2015_03_01:154884005 SNOMEDCT_US_2015_03_01:191720001 SNOMEDCT_US_2015_03_01:191721002 SNOMEDCT_US_2015_03_01:191734001 SNOMEDCT_US_2015_03_01:192393009 SNOMEDCT_US_2015_03_01:192398000 SNOMEDCT_US_2015_03_01:268630000 SNOMEDCT_US_2015_03_01:386808001 SNOMEDCT_US_2015_03_01:386810004 SNOMEDCT_US_2015_03_01:52039009 SNOMEDCT_US_2015_03_01:65673007 UMLS_CUI:C0349231 disease_ontology An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder brachial plexus neoplasm DOID:5913 NCI:C5823 UMLS_CUI:C1332602 disease_ontology tumor of the Brachial Plexus NCI2004_11_17:C5823 tumor of the Brachial Plexus nonencapsulated sclerosing carcinoma DOID:5914 NCI:C7427 Nonencapsulated Sclerosing neoplasm Papillary carcinoma, diffuse sclerosing SNOMEDCT_US_2015_03_01:62681000 UMLS_CUI:C0334330 disease_ontology NCI2004_11_17:C7427 Nonencapsulated Sclerosing neoplasm Papillary carcinoma, diffuse sclerosing SNOMEDCT_2005_07_31:62681000 uterus intravascular leiomyomatosis DOID:5915 Intravascular leiomyomatosis of Uterus disease_ontology Intravascular leiomyomatosis of Uterus NCI2004_11_17:C5356 uterine corpus leiomyomatosis DOID:5916 NCI:C40170 UMLS_CUI:C1519855 disease_ontology uterine corpus diffuse leiomyomatosis DOID:5917 disease_ontology localized unresectable adult primary liver cancer DOID:5918 disease_ontology localized Unresectable adult Liver carcinoma true NCI2004_11_17:C7878 localized Unresectable adult Liver carcinoma localized unresectable adult primary hepatoma DOID:5919 disease_ontology true malignant fibrous histiocytoma metastatic DOID:5920 disease_ontology true adult brainstem mixed glioma DOID:5921 NCI:C9371 UMLS_CUI:C1377915 adult brain stem mixed glioma disease_ontology NCI2004_11_17:C9371 adult brain stem mixed glioma adult brainstem astrocytoma DOID:5922 NCI:C6954 UMLS_CUI:C1332191 disease_ontology distal biliary tract carcinoma DOID:5923 NCI:C7109 UMLS_CUI:C1333308 carcinoma of the Distal biliary tract disease_ontology NCI2004_11_17:C7109 carcinoma of the Distal biliary tract recurrent extrahepatic bile duct cancer DOID:5924 disease_ontology recurrent extrahepatic bile duct carcinoma true NCI2004_11_17:C7893 recurrent extrahepatic bile duct carcinoma extrahepatic bile duct small cell adenocarcinoma DOID:5926 NCI:C5845 Oat cell extrahepatic bile duct carcinoma UMLS_CUI:C1335979 disease_ontology NCI2004_11_17:C5845 Oat cell extrahepatic bile duct carcinoma autosomal recessive polycystic kidney Autosomal Recessive Polycystic kidney disease DOID:5928 Polycystic kidney disease, infantile type (disorder) Polycystic kidney, autosomal recessive disease_ontology true ICD9CM_2006:753.14 Polycystic kidney, autosomal recessive Autosomal Recessive Polycystic kidney disease MTH:NOCODE Polycystic kidney disease, infantile type (disorder) SNOMEDCT_2005_07_31:28770003 agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. DOID:593 Fear of open spaces (finding) ICD10CM:F40.0 ICD10CM:F40.00 MSH:D000379 NCI:C34362 SNOMEDCT_US_2015_03_01:154885006 SNOMEDCT_US_2015_03_01:192394003 SNOMEDCT_US_2015_03_01:247830007 SNOMEDCT_US_2015_03_01:70691001 UMLS_CUI:C0001818 disease_ontology A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. url:http://en.wikipedia.org/wiki/Anxiety_disorder Fear of open spaces (finding) SNOMEDCT_2005_07_31:247830007 unresectable extrahepatic bile duct cancer DOID:5931 Unresectable extrahepatic bile duct carcinoma disease_ontology true NCI2004_11_17:C7892 Unresectable extrahepatic bile duct carcinoma resectable bile duct cancer DOID:5933 Resectable bile duct cancer disease_ontology true NCI2004_11_17:C8640 Resectable bile duct cancer localized extrahepatic bile duct cancer DOID:5934 disease_ontology localized extrahepatic bile duct carcinoma true NCI2004_11_17:C7891 localized extrahepatic bile duct carcinoma ovarian mixed germ cell neoplasm DOID:5936 NCI:C8114 UMLS_CUI:C0280135 disease_ontology mixed germ cell tumor of Ovary NCI2004_11_17:C8114 mixed germ cell tumor of Ovary autosomal dominant polycystic kidney DOID:5937 Polycystic kidney disease, adult type (disorder) Polycystic kidney, autosomal dominant disease_ontology true ICD9CM_2006:753.13 Polycystic kidney, autosomal dominant Polycystic kidney disease, adult type (disorder) SNOMEDCT_2005_07_31:28728008 panic disorder An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. DOID:594 EFO:0004262 MSH:D016584 NCI:C34890 OMIM:167870 OMIM:607853 OMIM:609985 SNOMEDCT_US_2015_03_01:191705007 SNOMEDCT_US_2015_03_01:192400001 SNOMEDCT_US_2015_03_01:268627007 SNOMEDCT_US_2015_03_01:371631005 UMLS_CUI:C0030319 Xref MGI. disease_ontology panic anxiety syndrome An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. url:http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml CSP2005:4000-0280 panic anxiety syndrome malignant peripheral nerve sheath tumor DOID:5940 MSH:D009442 NCI:C3798 SNOMEDCT_US_2015_03_01:134324009 SNOMEDCT_US_2015_03_01:189949003 SNOMEDCT_US_2015_03_01:19897006 SNOMEDCT_US_2015_03_01:404037002 SNOMEDCT_US_2015_03_01:77418004 UMLS_CUI:C0751690 disease_ontology malignant neoplasm of the peripheral nerve Sheath malignant peripheral nerve sheath tumor (disorder) malignant peripheral nerve sheath tumor (morphologic abnormality) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:404037002 malignant peripheral nerve sheath tumor (disorder) SNOMEDCT_2005_07_31:134324009 malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) NCI2004_11_17:C3798 malignant neoplasm of the peripheral nerve Sheath SNOMEDCT_2005_07_31:19897006 malignant peripheral nerve sheath tumor (morphologic abnormality) lung carcinoma metastatic to the brain DOID:5941 disease_ontology true angiokeratoma of mibelli Angiokeratoma of Mibelli (disorder) DOID:5948 NCI:C3927 SNOMEDCT_US_2015_03_01:62727008 UMLS_CUI:C0263640 disease_ontology Angiokeratoma of Mibelli (disorder) SNOMEDCT_2005_07_31:62727008 angiokeratoma circumscriptum Angiokeratoma circumscriptum (disorder) DOID:5949 NCI:C7751 SNOMEDCT_US_2015_03_01:21848000 UMLS_CUI:C0263638 disease_ontology Angiokeratoma circumscriptum (disorder) SNOMEDCT_2005_07_31:21848000 bladder urachal squamous cell carcinoma DOID:5957 NCI:C39845 UMLS_CUI:C1511206 disease_ontology bladder urachal carcinoma DOID:5958 NCI:C39842 UMLS_CUI:C1511205 disease_ontology schistosoma hematobium-related bladder squamous cell carcinoma DOID:5963 disease_ontology true kidney pelvis papillary carcinoma DOID:5973 NCI:C6148 Papillary carcinoma of renal Pelvis UMLS_CUI:C1377909 disease_ontology NCI2004_11_17:C6148 Papillary carcinoma of renal Pelvis renal pelvis transitional cell carcinoma DOID:5974 NCI:C7355 UMLS_CUI:C0238410 Urothelial cell carcinoma of renal Pelvis disease_ontology NCI2004_11_17:C7355 Urothelial cell carcinoma of renal Pelvis renal pelvis papillary tumor DOID:5975 NCI:C8603 Papillary neoplasm of renal Pelvis UMLS_CUI:C0853688 disease_ontology NCI2004_11_17:C8603 Papillary neoplasm of renal Pelvis occlusion precerebral artery DOID:10961 DOID:1547 DOID:5976 ICD10CM:I65.9 ICD9CM:433 ICD9CM:433.3 ICD9CM:433.9 Occlusion and stenosis of multiple and bilateral precerebral arteries UMLS_CUI:C0155725 UMLS_CUI:C0155727 disease_ontology occlusion and stenosis of precerebral artery renal pelvis neoplasm DOID:5977 NCI:C8404 SNOMEDCT_US_2015_03_01:126881002 SNOMEDCT_US_2015_03_01:254926009 UMLS_CUI:C0346260 disease_ontology neoplasm of renal pelvis (disorder) tumor of kidney Pelvis tumor of renal pelvis (disorder) NCI2004_11_17:C8404 tumor of kidney Pelvis SNOMEDCT_2005_07_31:254926009 tumor of renal pelvis (disorder) SNOMEDCT_2005_07_31:126881002 neoplasm of renal pelvis (disorder) human papilloma virus related vulvar squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. DOID:5978 DOID:5979 HPV-Related Vulvar squamous cell carcinoma disease_ontology true vulvar condylomatous carcinoma HPV-Related Vulvar squamous cell carcinoma NCI2004_11_17:C27679 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. url:http://cebp.aacrjournals.org/content/18/7/2061.abstract url:http://emedicine.medscape.com/article/219110-overview hemispheric anaplastic astrocytoma DOID:5980 Undifferentiated Hemispheric astrocytoma disease_ontology true NCI2004_11_17:C5123 Undifferentiated Hemispheric astrocytoma hamartoma of hypothalamus DOID:5981 Hypothalamic hamartoma disease_ontology hamartoma of hypothalamus (disorder) true Hypothalamic hamartoma NCI2004_11_17:C4385 SNOMEDCT_2005_07_31:237714006 hamartoma of hypothalamus (disorder) kidney fibrosarcoma DOID:5982 Fibrosarcoma of the kidney NCI:C7726 UMLS_CUI:C0238208 disease_ontology Fibrosarcoma of the kidney NCI2004_11_17:C7726 kidney osteogenic sarcoma A kidney sarcoma that starts in the bones and that is located_in the kidney. DOID:5983 NCI:C6181 UMLS_CUI:C1335747 disease_ontology renal Osteogenic sarcoma NCI2004_11_17:C6181 renal Osteogenic sarcoma A kidney sarcoma that starts in the bones and that is located_in the kidney. url:http://www.ncbi.nlm.nih.gov/pubmed/1768219 clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres DOID:5989 disease_ontology true specific phobia A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. DOID:599 ICD10CM:F40.2 MSH:C562465 NCI:C35284 OMIM:608251 SNOMEDCT_US_2015_03_01:192396001 SNOMEDCT_US_2015_03_01:54587008 UMLS_CUI:C0236801 disease_ontology simple phobia A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. url:http://en.wikipedia.org/wiki/Specific_phobia url:http://www.healthyplace.com/other-info/psychiatric-disorder-definitions/specific-simple-phobia/menu-id-71/ internal auditory canal meningioma DOID:5990 NCI:C5307 UMLS_CUI:C1334227 disease_ontology meningioma of the Internal Auditory canal NCI2004_11_17:C5307 meningioma of the Internal Auditory canal early onset breast ovarian cancer syndrome DOID:5991 disease_ontology true blunt duct adenosis of breast Blunt duct Adenosis of the breast DOID:5996 NCI:C6941 UMLS_CUI:C1332573 disease_ontology Blunt duct Adenosis of the breast NCI2004_11_17:C6941 non-proliferative fibrocystic change of the breast DOID:5997 NCI:C6943 Non-Proliferative Fibrocystic Change UMLS_CUI:C1332628 disease_ontology NCI2004_11_17:C6943 Non-Proliferative Fibrocystic Change microglandular adenosis Adenosis - breast Adenosis of the breast DOID:5998 MSH:D005348 NCI:C3484 SNOMEDCT_US_2015_03_01:270893004 UMLS_CUI:C0085750 disease_ontology Adenosis of the breast NCI2004_11_17:C3484 Adenosis - breast SNOMEDCT_2005_07_31:270893004 apocrine adenosis of breast Apocrine Adenosis of the breast DOID:5999 NCI:C5198 UMLS_CUI:C1332314 disease_ontology Apocrine Adenosis of the breast NCI2004_11_17:C5198 animal phobia A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. DOID:600 Fear of animals (finding) NCI:C35273 SNOMEDCT_US_2015_03_01:192396001 SNOMEDCT_US_2015_03_01:54307006 UMLS_CUI:C0233711 Zoophobia (finding) disease_ontology Fear of animals (finding) SNOMEDCT_2005_07_31:247848003 A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. url:http://hubpages.com/hub/list-of-animal-phobias SNOMEDCT_2005_07_31:54307006 Zoophobia (finding) congestive heart failure A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. CHF Cardiac Failure Congestive Congestive heart disease DOID:395 DOID:6000 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MSH:D006333 NCI:C3080 NCI:C50577 SNOMEDCT_US_2015_03_01:155374007 SNOMEDCT_US_2015_03_01:155375008 SNOMEDCT_US_2015_03_01:155377000 SNOMEDCT_US_2015_03_01:195108009 SNOMEDCT_US_2015_03_01:195117009 SNOMEDCT_US_2015_03_01:266248006 SNOMEDCT_US_2015_03_01:266308000 SNOMEDCT_US_2015_03_01:42343007 SNOMEDCT_US_2015_03_01:84114007 UMLS_CUI:C0018801 UMLS_CUI:C0018802 Weak heart disease_ontology CHF CSP2005:1393-3597 Congestive heart disease MTHICD9_2006:428.0 A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. url:http://en.wikipedia.org/wiki/Heart_disease MTHICD9_2006:428.9 Weak heart Cardiac Failure Congestive NCI2004_11_17:C3080 breast fibrosarcoma DOID:6001 Fibrosarcoma of the breast NCI:C5185 UMLS_CUI:C1332630 disease_ontology Fibrosarcoma of the breast NCI2004_11_17:C5185 aleukemic leukemia cutis DOID:6003 NCI:C4983 UMLS_CUI:C0887846 disease_ontology aleukemic leukemia A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. DOID:6004 NCI:C4982 SNOMEDCT_US_2015_03_01:112688008 SNOMEDCT_US_2015_03_01:154602005 SNOMEDCT_US_2015_03_01:190028007 SNOMEDCT_US_2015_03_01:269633006 SNOMEDCT_US_2015_03_01:302856006 UMLS_CUI:C0877858 aleukemic myelosis disease_ontology A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. url:http://www.merriam-webster.com/medical/aleukemic%20leukemia mediastinum embryonal carcinoma DOID:6013 Embryonal carcinoma of mediastinum disease_ontology embryonal carcinoma of the mediastinum true Embryonal carcinoma of mediastinum NCI2004_11_17:C6441 mediastinal germ cell cancer DOID:5558 DOID:6014 disease_ontology germ cell tumor of mediastinum malignant germ cell tumor of mediastinum mediastinal germ cell neoplasm true NCI2004_11_17:C6446 malignant germ cell tumor of mediastinum NCI2004_11_17:C6437 germ cell tumor of mediastinum adult central nervous system teratoma DOID:6015 NCI:C5794 UMLS_CUI:C1370506 disease_ontology teratoma of the adult central nervous system NCI2004_11_17:C5794 teratoma of the adult central nervous system adult central nervous system mature teratoma DOID:6016 NCI:C27400 UMLS_CUI:C1332194 disease_ontology central nervous system mature teratoma DOID:6017 Mature teratoma of the CNS NCI:C7013 UMLS_CUI:C1332886 disease_ontology Mature teratoma of the CNS NCI2004_11_17:C7013 adult central nervous system immature teratoma DOID:6018 NCI:C27401 UMLS_CUI:C1332193 disease_ontology central nervous system immature teratoma DOID:6019 Immature teratoma of the CNS NCI:C7014 UMLS_CUI:C1332883 disease_ontology Immature teratoma of the CNS NCI2004_11_17:C7014 cancerophobia DOID:602 Fear of getting cancer (finding) NCI:C35492 SNOMEDCT_US_2015_03_01:191730005 SNOMEDCT_US_2015_03_01:300930008 SNOMEDCT_US_2015_03_01:34563004 UMLS_CUI:C0233705 cancer phobia disease_ontology Fear of getting cancer (finding) SNOMEDCT_2005_07_31:34563004 SNOMEDCT_2005_07_31:300930008 cancer phobia metastatic MPNST DOID:6020 disease_ontology true malignant testicular Leydig cell tumor DOID:6021 NCI:C39942 UMLS_CUI:C1515288 disease_ontology central nervous system melanoma DOID:6022 disease_ontology melanoma of the CNS true NCI2004_11_17:C5505 melanoma of the CNS metastasis to the parathyroid gland DOID:6023 disease_ontology metastatic tumor to the Parathyroid true NCI2004_11_17:C8557 metastatic tumor to the Parathyroid selective IgE deficiency disease DOID:6024 NCI:C27143 SNOMEDCT_US_2015_03_01:234540007 Selective IgE Immunodeficiency Selective immunoglobulin E deficiency (disorder) UMLS_CUI:C0398694 disease_ontology NCI2004_11_17:C27143 Selective IgE Immunodeficiency SNOMEDCT_2005_07_31:234540007 Selective immunoglobulin E deficiency (disorder) selective immunoglobulin deficiency disease DOID:6025 NCI:C27870 UMLS_CUI:C1335942 disease_ontology AIDS phobia DOID:603 NCI:C35614 UMLS_CUI:C0853870 disease_ontology disseminated squamous cell carcinoma DOID:6031 Disseminated squamous cell carcinoma (morphologic abnormality) disease_ontology true Disseminated squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:300987004 juvenile type testicular granulosa cell tumor DOID:5332 DOID:6032 Juvenile granulosa cell tumor (morphologic abnormality) Juvenile granulosa cell tumour Juvenile type Granulosa cell tumor NCI:C39947 NCI:C4207 SNOMEDCT_US_2015_03_01:189735004 SNOMEDCT_US_2015_03_01:77029009 UMLS_CUI:C0334403 UMLS_CUI:C1515285 disease_ontology juvenile type granulosa cell neoplasm Juvenile type Granulosa cell tumor NCI2004_11_17:C4207 Juvenile granulosa cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:77029009 Juvenile granulosa cell tumour SNOMEDCT_2005_07_31:189735004 heart fibrosarcoma DOID:6033 Fibrosarcoma of the Heart NCI:C5361 UMLS_CUI:C1332844 cardiac fibrosarcoma disease_ontology Fibrosarcoma of the Heart NCI2004_11_17:C5361 heart malignant hemangiopericytoma A heart sarcoma that is a soft tissue sarcoma located in the heart. DOID:6034 NCI:C5365 UMLS_CUI:C1334567 disease_ontology malignant hemangiopericytoma of Heart A heart sarcoma that is a soft tissue sarcoma located in the heart. url:http://www.ncbi.nlm.nih.gov/pubmed/16434949 NCI2004_11_17:C5365 malignant hemangiopericytoma of Heart spindle cell intraocular melanoma An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. DOID:6037 NCI:C7986 UMLS_CUI:C0279687 Uveal spindle cell melanoma disease_ontology NCI2004_11_17:C7986 Uveal spindle cell melanoma An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3 uveal melanoma A uveal cancer that has_material_basis_in uvea pigment cells. DOID:6039 MSH:C536494 NCI:C7712 OMIM:155720 OMIM:606660 OMIM:606661 ORDO:39044 UMLS_CUI:C0220633 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology melanoma of Uvea A uveal cancer that has_material_basis_in uvea pigment cells. url:http://cancergenome.nih.gov/cancersselected/UvealMelanoma url:http://en.wikipedia.org/wiki/Uveal_melanoma NCI2004_11_17:C7712 melanoma of Uvea choroid spindle cell melanoma A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid. DOID:6041 NCI:C6099 UMLS_CUI:C1333027 disease_ontology spindle cell melanoma of the Choroid NCI2004_11_17:C6099 spindle cell melanoma of the Choroid A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print ciliary body spindle cell melanoma A spindle intraocular melanoma that is located_in the ciliary body. DOID:6043 NCI:C6117 UMLS_CUI:C1333052 disease_ontology spindle cell melanoma of the Ciliary body A spindle intraocular melanoma that is located_in the ciliary body. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 NCI2004_11_17:C6117 spindle cell melanoma of the Ciliary body AIDS retinopathy A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. DOID:6045 disease_ontology true A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. url:http://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq url:http://www.ophthobook.com/chapters/infections telangiectatic glomangioma DOID:6048 NCI:C5345 UMLS_CUI:C1336699 disease_ontology flying phobia A specific phobia that is characterized by a fear of flying. DOID:605 NCI:C35413 SNOMEDCT_US_2015_03_01:192045005 SNOMEDCT_US_2015_03_01:247854002 UMLS_CUI:C0344318 disease_ontology A specific phobia that is characterized by a fear of flying. url:http://en.wikipedia.org/wiki/Fear_of_flying esophageal disease A gastrointestinal system disease that is located_in the esophagus. DOID:10117 DOID:10118 DOID:11798 DOID:6050 ICD10CM:K22.9 ICD9CM:530 ICD9CM:530.9 MSH:D004935 NCI:C3027 SNOMEDCT_US_2015_03_01:155671005 SNOMEDCT_US_2015_03_01:155680005 SNOMEDCT_US_2015_03_01:196626000 SNOMEDCT_US_2015_03_01:266497000 SNOMEDCT_US_2015_03_01:37657006 UMLS_CUI:C0014852 disease_ontology esophageal Ulcer A gastrointestinal system disease that is located_in the esophagus. url:http://en.wikipedia.org/wiki/Esophageal_disease NCI2004_11_17:C26950 esophageal Ulcer central nervous system childhood germ cell tumor DOID:6052 NCI:C6205 UMLS_CUI:C0278754 disease_ontology pediatric germ cell neoplasm of CNS NCI2004_11_17:C6205 pediatric germ cell neoplasm of CNS pediatric germ cell cancer DOID:6053 NCI:C7928 UMLS_CUI:C0279014 disease_ontology pediatric germ cell neoplasm pediatric germ cell tumor NCI2004_11_17:C7928 pediatric germ cell neoplasm frontal sinus Schneiderian papilloma DOID:6054 NCI:C6837 Schneiderian papilloma of the Frontal sinus UMLS_CUI:C1333645 disease_ontology NCI2004_11_17:C6837 Schneiderian papilloma of the Frontal sinus paranasal sinus Schneiderian papilloma DOID:6055 Schneiderian papilloma of Accessory sinus disease_ontology true NCI2004_11_17:C6835 Schneiderian papilloma of Accessory sinus nasal vestibule papilloma DOID:6059 NCI:C4369 SNOMEDCT_US_2015_03_01:232364006 UMLS_CUI:C0339826 disease_ontology papilloma of nasal vestibule (disorder) squamous papilloma of the nasal Vestibule SNOMEDCT_2005_07_31:232364006 papilloma of nasal vestibule (disorder) NCI2004_11_17:C4369 squamous papilloma of the nasal Vestibule Brown-Sequard syndrome Brown-Squard syndrome (disorder) DOID:606 ICD10CM:G83.81 MSH:D018437 NCI:C84601 SNOMEDCT_US_2015_03_01:27982003 UMLS_CUI:C0242644 disease_ontology Brown-Squard syndrome (disorder) SNOMEDCT_2005_07_31:27982003 urinary tract non-invasive transitional cell neoplasm DOID:6065 NCI:C39854 UMLS_CUI:C1518361 disease_ontology ovarian mucinous neoplasm DOID:3712 DOID:6067 NCI:C40033 NCI:C5242 Ovarian mucinous tumor SNOMEDCT_US_2015_03_01:189683008 UMLS_CUI:C1335168 UMLS_CUI:C1518233 disease_ontology malignant ovarian mucinous neoplasm mucinous tumor of Ovary Ovarian mucinous tumor SNOMEDCT_2005_07_31:189683008 NCI2004_11_17:C5242 mucinous tumor of Ovary paraplegia DOID:607 ICD10CM:G82.2 ICD10CM:G82.20 ICD9CM:344.1 MSH:D010264 NCI:C50687 Paraplegia, lower SNOMEDCT_US_2015_03_01:155031004 SNOMEDCT_US_2015_03_01:60389000 UMLS_CUI:C0030486 disease_ontology MTHICD9_2006:344.1 Paraplegia, lower resectable duodenal carcinoma DOID:6071 disease_ontology true localized malignant mesothelioma DOID:6077 disease_ontology true secondary malignant neoplasm to the nervous system DOID:6078 disease_ontology true drop secondary malignant neoplasm to the spinal cord DOID:6079 Drop metastatic tumor to the Spinal Cord disease_ontology true Drop metastatic tumor to the Spinal Cord NCI2004_11_17:C5439 spinal cord secondary cancer DOID:6080 disease_ontology metastatic tumor to the Spinal Cord secondary malignant neoplasm of spinal cord (disorder) true NCI2004_11_17:C4585 metastatic tumor to the Spinal Cord SNOMEDCT_2005_07_31:94600009 secondary malignant neoplasm of spinal cord (disorder) childhood testicular endodermal sinus neoplasm DOID:6081 disease_ontology pediatric testicular Yolk Sac tumor true NCI2004_11_17:C6543 pediatric testicular Yolk Sac tumor pediatric testicular germ cell tumor DOID:6082 NCI:C6552 UMLS_CUI:C0796663 disease_ontology pediatric testicular germ cell neoplasm NCI2004_11_17:C6552 pediatric testicular germ cell neoplasm childhood ovarian endodermal sinus tumor DOID:6083 NCI:C6551 UMLS_CUI:C1332993 childhood ovarian endodermal sinus neoplasm disease_ontology pediatric Ovarian Yolk Sac tumor NCI2004_11_17:C6551 pediatric Ovarian Yolk Sac tumor pediatric ovarian germ cell tumor DOID:6084 NCI:C8588 UMLS_CUI:C0796664 disease_ontology pediatric Ovarian germ cell neoplasm NCI2004_11_17:C8588 pediatric Ovarian germ cell neoplasm meningeal melanoma DOID:6085 NCI:C5317 UMLS_CUI:C1334386 disease_ontology melanoma of the leptomeninges malignant leptomeningeal tumor DOID:6086 NCI:C8506 UMLS_CUI:C1334596 disease_ontology malignant tumor of Leptomeninges NCI2004_11_17:C8506 malignant tumor of Leptomeninges predominant disturbance of emotions DOID:6087 disease_ontology true acute stress disorder An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. DOID:6088 ICD9CM:308.3 SNOMEDCT_US_2015_03_01:192040000 SNOMEDCT_US_2015_03_01:192043003 UMLS_CUI:C0029488 disease_ontology traumatic stress disorder An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. url:http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm pediatric leptomeningeal melanoma DOID:6089 NCI:C5318 UMLS_CUI:C1332976 disease_ontology skin abnormality DOID:609 disease_ontology true adult leptomeningeal melanoma DOID:6090 NCI:C5319 UMLS_CUI:C1332204 disease_ontology melanoma of adult Leptomeninges NCI2004_11_17:C5319 melanoma of adult Leptomeninges ampulla of vater intestinal type adenocarcinoma DOID:6091 disease_ontology true thalamic neoplasm DOID:6096 DOID:6098 NCI:C4576 NCI:C6221 SNOMEDCT_US_2015_03_01:188287005 UMLS_CUI:C0346902 UMLS_CUI:C1336733 disease_ontology malignant neoplasm of thalamus malignant neoplasm of thalamus (disorder) malignant tumor of Thalamus tumor of Thalamus SNOMEDCT_2005_07_31:188287005 malignant neoplasm of thalamus (disorder) NCI2004_11_17:C4576 malignant tumor of Thalamus NCI2004_11_17:C6221 tumor of Thalamus mitral valve disease DOID:11505 DOID:58 DOID:59 DOID:61 ICD10CM:I05 ICD10CM:I05.1 ICD10CM:I05.9 ICD9CM:394 ICD9CM:394.1 ICD9CM:424.0 Mitral RH valve dis. NCI:C78446 Rheumatic disease of mitral valve (disorder) Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation SNOMEDCT_US_2015_03_01:11851006 SNOMEDCT_US_2015_03_01:155276006 SNOMEDCT_US_2015_03_01:155278007 SNOMEDCT_US_2015_03_01:155279004 SNOMEDCT_US_2015_03_01:194724009 SNOMEDCT_US_2015_03_01:194729004 SNOMEDCT_US_2015_03_01:194982000 SNOMEDCT_US_2015_03_01:250998008 SNOMEDCT_US_2015_03_01:266278002 SNOMEDCT_US_2015_03_01:266279005 SNOMEDCT_US_2015_03_01:31085000 SNOMEDCT_US_2015_03_01:83898004 UMLS_CUI:C0026265 UMLS_CUI:C0155563 UMLS_CUI:C0264765 chronic rheumatic mitral valve (disorder) disease of mitral valve disease_ontology rheumatic disease of mitral valve rheumatic mitral valve incompetence SNOMEDCT_2005_07_31:286947004 chronic rheumatic mitral valve (disorder) ICD9CM_2006:394 disease of mitral valve MTHICD9_2006:394.1 Rheumatic mitral valve regurgitation Rheumatic mitral valve changes SNOMEDCT_2005_07_31:250998008 Rheumatic disease of mitral valve (disorder) SNOMEDCT_2005_07_31:83898004 Mitral RH valve dis. SNOMEDCT_2005_07_31:155276006 SNOMEDCT_2005_07_31:266278002 ICD9CM_2006:394.1 Rheumatic mitral insufficiency SNOMEDCT_2005_07_31:155279004 SNOMEDCT_2005_07_31:266279005 signet ring cell variant cervical mucinous adenocarcinoma DOID:6101 NCI:C40205 UMLS_CUI:C1516424 disease_ontology herpetic gastritis A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. DOID:6102 NCI:C27341 UMLS_CUI:C1333996 disease_ontology A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. url:http://www.ncbi.nlm.nih.gov/pubmed/1063088 thoracic spinal canal and spinal cord meningioma DOID:6103 NCI:C5297 UMLS_CUI:C1336738 disease_ontology meningioma of the Thoracic Spinal canal and Spinal Cord NCI2004_11_17:C5297 meningioma of the Thoracic Spinal canal and Spinal Cord mixed embryonal carcinoma and teratoma of the mediastinum DOID:6104 Teratocarcinoma of mediastinum disease_ontology true NCI2004_11_17:C6442 Teratocarcinoma of mediastinum mediastinum malignant teratoma DOID:6105 disease_ontology malignant mediastinal teratoma malignant teratoma of mediastinum (disorder) true SNOMEDCT_2005_07_31:278042005 malignant teratoma of mediastinum (disorder) NCI2004_11_17:C4668 malignant mediastinal teratoma mediastinal mixed non-seminomatous germ cell tumor DOID:6107 disease_ontology mixed Non-Seminomatous germ cell tumor of mediastinum true NCI2004_11_17:C6444 mixed Non-Seminomatous germ cell tumor of mediastinum mesenchymal hamartoma of the liver DOID:6108 disease_ontology mesenchymal hamartoma of Liver true NCI2004_11_17:C5751 mesenchymal hamartoma of Liver hepatic and intrahepatic bile duct non-epithelial neoplasm DOID:6109 disease_ontology true leukocyte-adhesion deficiency syndrome DOID:611 MSH:D018370 UMLS_CUI:C0242597 disease_ontology jugular foramen meningioma DOID:6110 NCI:C5293 UMLS_CUI:C1334298 disease_ontology meningioma of the Jugular Foramen NCI2004_11_17:C5293 meningioma of the Jugular Foramen jugular foramen neoplasm DOID:6111 disease_ontology true tumor of Jugular Foramen NCI2004_11_17:C5589 tumor of Jugular Foramen cerebral meningioma Cerebral meningioma (disorder) DOID:6112 NCI:C4807 SNOMEDCT_US_2015_03_01:189164002 UMLS_CUI:C0542564 disease_ontology meningioma of Cerebrum Cerebral meningioma (disorder) SNOMEDCT_2005_07_31:189164002 NCI2004_11_17:C4807 meningioma of Cerebrum intracerebral cystic meningioma DOID:6113 NCI:C5269 UMLS_CUI:C1334236 disease_ontology cerebral convexity meningioma Cerebral Hemispheric Convexity meningioma DOID:6114 MSH:D008579 NCI:C4959 UMLS_CUI:C0751303 disease_ontology Cerebral Hemispheric Convexity meningioma NCI2004_11_17:C4959 lateral ventricle meningioma DOID:6115 NCI:C5302 UMLS_CUI:C1334380 disease_ontology meningioma of the Lateral Ventricle NCI2004_11_17:C5302 meningioma of the Lateral Ventricle renal pelvis inverted papilloma DOID:6118 Inverted papilloma of the kidney Pelvis NCI:C6187 UMLS_CUI:C1335751 disease_ontology Inverted papilloma of the kidney Pelvis NCI2004_11_17:C6187 renal pelvis urothelial papilloma DOID:6119 NCI:C4528 UMLS_CUI:C1514844 disease_ontology primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. DOID:612 ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MSH:D007153 NCI:C3131 NCI:C39725 OMIM:242850 SNOMEDCT_US_2015_03_01:191005003 SNOMEDCT_US_2015_03_01:234532001 SNOMEDCT_US_2015_03_01:64431000 UMLS_CUI:C0021051 Xref MGI. disease_ontology hypoimmunity immune deficiency disorder immunodeficiency syndrome An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases NCI2004_11_17:C3131 immunodeficiency syndrome CSP2005:1560-5885 immune deficiency disorder CSP2005:1553-9570 hypoimmunity AIDS-related anal cancer An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. DOID:6122 disease_ontology true An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. url:http://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm anal canal carcinoma An anal canal cancer that derives_from epithelial cells. DOID:6126 MSH:C563020 NCI:C7489 OMIM mapping confirmed by DO. [SN]. OMIM:105580 SNOMEDCT_US_2015_03_01:285310000 UMLS_CUI:C0563211 anal canal and Perianal gland carcinoma carcinoma of anal canal carcinoma of anal canal (disorder) disease_ontology SNOMEDCT_2005_07_31:285310000 carcinoma of anal canal (disorder) An anal canal cancer that derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp NCI2004_11_17:C7489 anal canal and Perianal gland carcinoma gliomatosis cerebri Astrocytosis cerebri DOID:6128 Gliomatosis cerebri (morphologic abnormality) MSH:D018302 NCI:C4318 SNOMEDCT_US_2015_03_01:26138003 UMLS_CUI:C0334576 disease_ontology Astrocytosis cerebri NCI2004_11_17:C4318 Gliomatosis cerebri (morphologic abnormality) SNOMEDCT_2005_07_31:26138003 T lymphocyte deficiency DOID:613 NCI:C27145 SNOMEDCT_US_2015_03_01:402792003 T-cell Immunodeficiency T-lymphocyte deficiency (finding) T-lymphocyte immunodeficiency (disorder) UMLS_CUI:C1274233 disease_ontology SNOMEDCT_2005_07_31:398055000 T-lymphocyte deficiency (finding) SNOMEDCT_2005_07_31:402792003 T-lymphocyte immunodeficiency (disorder) NCI2004_11_17:C27145 T-cell Immunodeficiency bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. CI - Chest infection CSP:2596-1500 Chest infection NOS (disorder) DOID:13503 DOID:13504 DOID:13707 DOID:13728 DOID:13729 DOID:5049 DOID:6130 DOID:6131 DOID:6132 DOID:9982 DOID:9983 ICD10CM:J20 ICD10CM:J20.9 ICD10CM:J40 ICD10CM:J42 ICD9CM:466.0 ICD9CM:490 ICD9CM:491 ICD9CM:491.9 Infection of lower respiratory tract MSH:D001991 MSH:D029481 NCI:C26722 NCI:C26932 NCI:C2911 SNOMEDCT_US_2015_03_01:10509002 SNOMEDCT_US_2015_03_01:155512004 SNOMEDCT_US_2015_03_01:155515002 SNOMEDCT_US_2015_03_01:155566007 SNOMEDCT_US_2015_03_01:155572007 SNOMEDCT_US_2015_03_01:155616009 SNOMEDCT_US_2015_03_01:195713004 SNOMEDCT_US_2015_03_01:195733000 SNOMEDCT_US_2015_03_01:195936003 SNOMEDCT_US_2015_03_01:195940007 SNOMEDCT_US_2015_03_01:195956002 SNOMEDCT_US_2015_03_01:266354009 SNOMEDCT_US_2015_03_01:266380005 SNOMEDCT_US_2015_03_01:266395007 SNOMEDCT_US_2015_03_01:32398004 SNOMEDCT_US_2015_03_01:35301006 SNOMEDCT_US_2015_03_01:63480004 UMLS_CUI:C0006277 UMLS_CUI:C0008677 UMLS_CUI:C0149514 acute Bronchitis acute bronchitis and bronchiolitis chest cold chronic bronchitis disease_ontology lower respiratory tract Infection recurrent wheezy bronchitis Chest infection NOS (disorder) SNOMEDCT_2005_07_31:266339003 CI - Chest infection SNOMEDCT_2005_07_31:266340001 Infection of lower respiratory tract SNOMEDCT_2005_07_31:155626002 NCI2004_11_17:C26932 acute Bronchitis SNOMEDCT_2005_07_31:195936003 recurrent wheezy bronchitis NCI2004_11_17:C35158 lower respiratory tract Infection A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. url:http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html url:http://www.nlm.nih.gov/medlineplus/bronchitis.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis uterine corpus epithelioid leiomyosarcoma DOID:6139 NCI:C40174 UMLS_CUI:C1519851 disease_ontology lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. DOID:614 ICD10CM:D72.810 ICD9CM:288.51 Lymphocytopenia MSH:D008231 SNOMEDCT_US_2015_03_01:48813009 UMLS_CUI:C0024312 disease_ontology A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Lymphopenia Lymphocytopenia MTHICD9_2006:288.8 nasal cavity carcinoma in situ DOID:6148 ICD10CM:D02.3 NCI:C4589 SNOMEDCT_US_2015_03_01:92663007 UMLS_CUI:C0347095 carcinoma in situ of nasal cavities carcinoma in situ of nasal cavity (disorder) disease_ontology stage 0 carcinoma of the nasal cavity SNOMEDCT_2005_07_31:92663007 carcinoma in situ of nasal cavity (disorder) NCI2004_11_17:C4589 stage 0 carcinoma of the nasal cavity MTHICD9_2006:231.8 carcinoma in situ of nasal cavities leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. DOID:615 ICD10CM:D72.819 ICD9CM:288.50 Leucopenia MSH:D007970 SNOMEDCT_US_2015_03_01:142917003 SNOMEDCT_US_2015_03_01:191348003 SNOMEDCT_US_2015_03_01:84828003 UMLS_CUI:C0023530 disease_ontology A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. url:http://en.wikipedia.org/wiki/Leukopenia Leucopenia SNOMEDCT_2005_07_31:191348003 Deltaretrovirus infectious disease A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. DOID:616 disease_ontology true A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. url:http://www.expasy.org/viralzone/all_by_species/91.html childhood choriocarcinoma of the testis DOID:6160 NCI:C6544 UMLS_CUI:C1333006 disease_ontology pediatric testicular Choriocarcinoma NCI2004_11_17:C6544 pediatric testicular Choriocarcinoma childhood testicular mixed germ cell tumor DOID:6161 NCI:C6542 UMLS_CUI:C1333009 disease_ontology pediatric testicular mixed germ cell tumor NCI2004_11_17:C6542 pediatric testicular mixed germ cell tumor childhood embryonal testis carcinoma An embryonal testis carcinoma that occurs in children. DOID:6162 NCI:C6545 UMLS_CUI:C1333007 childhood embryonal carcinoma of the testis disease_ontology pediatric testicular Embryonal carcinoma NCI2004_11_17:C6545 pediatric testicular Embryonal carcinoma An embryonal testis carcinoma that occurs in children. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma familial renal papillary carcinoma DOID:6163 Hereditary Papillary renal carcinoma NCI:C9222 UMLS_CUI:C0879257 disease_ontology Hereditary Papillary renal carcinoma NCI2004_11_17:C9222 prostatic urethra urothelial carcinoma DOID:6166 NCI:C39900 UMLS_CUI:C1514522 disease_ontology prostatic urethral cancer DOID:6167 NCI:C39870 UMLS_CUI:C1514523 disease_ontology Retroviridae infectious disease A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. DOID:617 Retroviridae disease disease due to Retroviridae (disorder) disease_ontology true A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. url:http://en.wikipedia.org/wiki/Retroviridae CSP2005:3100-1695 Retroviridae disease SNOMEDCT_2005_07_31:105635000 disease due to Retroviridae (disorder) ovarian carcinosarcoma DOID:6170 NCI:C9192 Ovarian MMMT SNOMEDCT_US_2015_03_01:702368000 UMLS_CUI:C0392998 disease_ontology ovarian malignant mesodermal (mullerian) mixed tumor ovarian malignant mixed Mullerian tumor NCI2004_11_17:C9192 Ovarian MMMT uterine carcinosarcoma A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. DOID:6171 NCI:C42700 SNOMEDCT_US_2015_03_01:702369008 UMLS_CUI:C0280630 disease_ontology mixed mullerian sarcoma of uterus A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. url:http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma url:http://en.wikipedia.org/wiki/Carcinosarcoma NCI2004_11_17:C9180 mixed mullerian sarcoma of uterus sporadic conventional renal cell carcinoma DOID:6174 disease_ontology true mediastinal neurilemmoma DOID:6175 NCI:C6643 Schwannoma of mediastinum UMLS_CUI:C1334679 disease_ontology NCI2004_11_17:C6643 Schwannoma of mediastinum metastatic ovarian small cell carcinoma with hypercalcemia DOID:6178 disease_ontology true ovarian small cell carcinoma DOID:6179 NCI2009_04D:C27390 disease_ontology Cytomegalovirus gastritis A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. CMV Gastritis CMV-Related Gastritis DOID:6180 disease_ontology true A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh CMV-Related Gastritis NCI2004_11_17:C27217 squamous cell carcinoma of unknown primary DOID:6184 disease_ontology true lymphoproliferative disease DOID:619 Duncan's syndrome disease_ontology true Duncan's syndrome SNOMEDCT_2005_07_31:77121009 rectum Kaposi's sarcoma A sarcoma of the rectum that results_in lesions that are located_in the rectum. DOID:6190 Kaposi's sarcoma of rectum NCI:C5550 UMLS_CUI:C1335681 disease_ontology rectum Kaposi sarcoma Kaposi's sarcoma of rectum NCI2004_11_17:C5550 A sarcoma of the rectum that results_in lesions that are located_in the rectum. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp inflammatory MFH DOID:6192 NCI:C6497 UMLS_CUI:C1334180 Xanthosarcoma disease_ontology NCI2004_11_17:C6497 Xanthosarcoma epithelioid sarcoma DOID:6193 MSH:D012509 NCI:C3714 SNOMEDCT_US_2015_03_01:59238007 UMLS_CUI:C0205944 disease_ontology epithelioid cell sarcoma epithelioid sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:59238007 epithelioid sarcoma (morphologic abnormality) NCI2004_11_17:C3714 epithelioid cell sarcoma conjunctivitis A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. DOID:6195 ICD10CM:H10 ICD10CM:H10.9 ICD9CM:372.30 MSH:D003231 Madras eye NCI:C34504 SNOMEDCT_US_2015_03_01:193857008 SNOMEDCT_US_2015_03_01:193858003 SNOMEDCT_US_2015_03_01:193875009 SNOMEDCT_US_2015_03_01:9826008 UMLS_CUI:C0009763 disease_ontology pink eye A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. url:http://en.wikipedia.org/wiki/Conjunctivitis url:http://www.merck.com/mmhe/sec20/ch229/ch229b.html#sec20-ch229-ch229b-216 reactive arthritis An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. DOID:10148 DOID:11891 DOID:13318 DOID:13519 DOID:13782 DOID:13783 DOID:13784 DOID:13785 DOID:6194 DOID:6196 DOID:9760 Fiessinger Leroy Reiter syndrome ICD10CM:M02.1 ICD10CM:M02.10 ICD10CM:M02.3 ICD10CM:M02.30 ICD9CM:099.3 ICD9CM:711.3 ICD9CM:711.30 MSH:D016918 NCI:C34975 Post-bacterial arthropathy Reactive arthritis Reiter disease Reiter's disease SNOMEDCT_US_2015_03_01:154389006 SNOMEDCT_US_2015_03_01:154390002 SNOMEDCT_US_2015_03_01:201496000 SNOMEDCT_US_2015_03_01:201506009 SNOMEDCT_US_2015_03_01:266212009 SNOMEDCT_US_2015_03_01:56528004 SNOMEDCT_US_2015_03_01:67224007 UMLS_CUI:C0035012 UMLS_CUI:C0152085 disease_ontology postdysenteric arthropathy Reactive arthritis SNOMEDCT_2005_07_31:201736002 ICD9CM_2006:099.3 Reiter's disease SNOMEDCT_2005_07_31:154390002 An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. url:http://emedicine.medscape.com/article/331347-overview url:http://en.wikipedia.org/wiki/Reactive_arthritis url:http://www.about-reactive-arthritis.com/ url:http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes url:http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm Post-bacterial arthropathy SNOMEDCT_2005_07_31:129133005 CSP2005:0944-8011 Fiessinger Leroy Reiter syndrome conventional malignant hemangiopericytoma DOID:6197 NCI:C9425 UMLS_CUI:C1333158 disease_ontology corneal intraepithelial neoplasm DOID:6198 NCI:C6093 SNOMEDCT_US_2015_03_01:420835009 UMLS_CUI:C1333159 disease_ontology cornea cancer Corneal tumor DOID:12757 DOID:6199 ICD10CM:C69.1 ICD9CM:190.4 NCI:C3565 NCI:C4361 SNOMEDCT_US_2015_03_01:126997008 SNOMEDCT_US_2015_03_01:363464006 SNOMEDCT_US_2015_03_01:93766000 UMLS_CUI:C0153629 UMLS_CUI:C0339304 disease_ontology malignant Corneal tumor malignant neoplasm of cornea malignant neoplasm of cornea (primary) malignant tumor of cornea (disorder) neoplasm of cornea (disorder) NCI2004_11_17:C3565 malignant Corneal tumor Corneal tumor NCI2004_11_17:C4361 SNOMEDCT_2005_07_31:93766000 malignant neoplasm of cornea (primary) SNOMEDCT_2005_07_31:126997008 neoplasm of cornea (disorder) SNOMEDCT_2005_07_31:363464006 malignant tumor of cornea (disorder) aortic valve disease DOID:56 DOID:62 ICD9CM:395 ICD9CM:424.1 MSH:C563178 NCI:C78650 SNOMEDCT_US_2015_03_01:194988001 SNOMEDCT_US_2015_03_01:8722008 UMLS_CUI:C1260873 Updating out dated UMLS CUI. disease_ontology blood protein disease DOID:620 MSH:D001796 UMLS_CUI:C0005830 blood protein disorder disease_ontology CSP2005:0449-0541 blood protein disorder recurrent malignant pericardial mesothelioma DOID:6200 disease_ontology true pericardial mesothelioma DOID:5883 DOID:6201 DOID:7433 ICD10CM:C45.2 NCI:C7631 NCI:C7632 NCI:C8703 SNOMEDCT_US_2015_03_01:109383000 SNOMEDCT_US_2015_03_01:187885008 UMLS_CUI:C0346110 UMLS_CUI:C0854883 UMLS_CUI:C1335381 disease_ontology malignant Pericardial Mesothelioma malignant mesothelioma of pericardium SNOMEDCT_2005_07_31:187885008 malignant mesothelioma of pericardium NCI2004_11_17:C7631 malignant Pericardial Mesothelioma mesothelioma malignant recurrent DOID:6202 disease_ontology relapsed malignant Mesothelioma true NCI2004_11_17:C7866 relapsed malignant Mesothelioma thyroid hyalinizing trabecular adenoma DOID:6203 NCI:C6846 PLAT UMLS_CUI:C1336751 disease_ontology NCI2004_11_17:C6846 PLAT follicular adenoma DOID:6204 Follicular adenoma (morphologic abnormality) Follicular adenoma of the Thyroid gland MSH:D000236 SNOMEDCT_US_2015_03_01:55021007 Thyroid follicular adenoma (disorder) UMLS_CUI:C0205647 disease_ontology Follicular adenoma of the Thyroid gland NCI2004_11_17:C3684 SNOMEDCT_2005_07_31:255034006 Thyroid follicular adenoma (disorder) Follicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:55021007 mediastinal osteogenic sarcoma DOID:6208 NCI:C6615 Osteosarcoma of mediastinum UMLS_CUI:C1334675 disease_ontology NCI2004_11_17:C6615 Osteosarcoma of mediastinum malignant mediastinum hemangiopericytoma A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. DOID:6209 NCI:C6608 UMLS_CUI:C1334598 disease_ontology malignant hemangiopericytoma of mediastinum NCI2004_11_17:C6608 malignant hemangiopericytoma of mediastinum A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. url:http://wjso.com/content/4/1/23 simian acquired immunodeficiency syndrome A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. DOID:621 SAIDS disease_ontology simian lymphoproliferative syndrome true A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. url:http://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf CSP2005:1560-6306 SAIDS CSP2005:3131-3700 simian lymphoproliferative syndrome bladder diffuse clear cell adenocarcinoma DOID:6210 NCI:C39849 UMLS_CUI:C1511187 disease_ontology mixed epithelial tumor of ovary DOID:6211 NCI:C4508 Ovarian mixed epithelial tumor SNOMEDCT_US_2015_03_01:254855000 UMLS_CUI:C0346166 disease_ontology mixed epithelial tumor of ovary (disorder) SNOMEDCT_2005_07_31:254855000 mixed epithelial tumor of ovary (disorder) NCI2004_11_17:C4508 Ovarian mixed epithelial tumor ovarian endometrial cancer An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. DOID:4116 DOID:6212 NCI:C40051 NCI:C6257 UMLS_CUI:C1335159 UMLS_CUI:C1518231 disease_ontology endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm NCI2004_11_17:C6257 endometrioid neoplasm of Ovary An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. url:http://en.wikipedia.org/wiki/Endometrial_cancer ovarian serous tumor DOID:6213 Ovarian serous tumor (morphologic abnormality) Ovarian serous tumour disease_ontology serous tumor of Ovary true NCI2004_11_17:C8431 serous tumor of Ovary Ovarian serous tumour SNOMEDCT_2005_07_31:189683008 Ovarian serous tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253024004 ovarian papillary neoplasm DOID:6214 NCI:C8430 Ovarian papillary tumor (morphologic abnormality) Ovarian papillary tumour Papillary tumor of Ovary SNOMEDCT_US_2015_03_01:189683008 SNOMEDCT_US_2015_03_01:253023005 UMLS_CUI:C0476121 disease_ontology NCI2004_11_17:C8430 Papillary tumor of Ovary Ovarian papillary tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253023005 Ovarian papillary tumour SNOMEDCT_2005_07_31:189683008 gastric diffuse adenocarcinoma DOID:4946 DOID:6217 Diffuse type adenocarcinoma NCI:C4127 NCI:C9159 SNOMEDCT_US_2015_03_01:24505004 UMLS_CUI:C0279635 UMLS_CUI:C0334280 adenocarcinoma of Linitis Plastica type carcinoma, diffuse type (morphologic abnormality) diffuse type carcinoma disease_ontology Diffuse type adenocarcinoma NCI2004_11_17:C4127 SNOMEDCT_2005_07_31:24505004 carcinoma, diffuse type (morphologic abnormality) NCI2004_11_17:C9159 adenocarcinoma of Linitis Plastica type Lentivirus infectious disease A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. DOID:622 Lentivirus disease disease_ontology true CSP2005:3100-1695 Lentivirus disease A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. url:http://www.expasy.ch/viralzone/all_by_species/264.html Cronkhite-Canada syndrome DOID:6225 NCI:C7035 UMLS_CUI:C1333764 disease_ontology gastric Cronkhite Canada polyposis articular cartilage disease Articular cartilage disorder involving ankle and foot Articular cartilage disorder involving forearm Articular cartilage disorder involving hand Articular cartilage disorder involving multiple sites Articular cartilage disorder involving pelvic region and thigh Articular cartilage disorder involving shoulder region Articular cartilage disorder involving upper arm Articular cartilage disorder of ankle and/or foot (disorder) Articular cartilage disorder of forearm Articular cartilage disorder of forearm (disorder) Articular cartilage disorder of hand Articular cartilage disorder of hand (disorder) Articular cartilage disorder of multiple sites Articular cartilage disorder of multiple sites (disorder) Articular cartilage disorder of shoulder region Articular cartilage disorder of shoulder region (disorder) Articular cartilage disorder of the ankle and foot (disorder) Articular cartilage disorder of the forearm (disorder) Articular cartilage disorder of the hand (disorder) Articular cartilage disorder of the pelvic region and thigh Articular cartilage disorder of the pelvic region and thigh (disorder) Articular cartilage disorder of the shoulder region (disorder) Articular cartilage disorder of the upper arm (disorder) Articular cartilage disorder of upper arm Articular cartilage disorder of upper arm (disorder) DOID:6226 DOID:6227 DOID:9366 DOID:9871 DOID:9872 DOID:9873 DOID:9874 DOID:9875 ICD9CM:718.0 ICD9CM:718.00 SNOMEDCT_US_2015_03_01:156523007 SNOMEDCT_US_2015_03_01:202132006 SNOMEDCT_US_2015_03_01:202145005 SNOMEDCT_US_2015_03_01:268062001 SNOMEDCT_US_2015_03_01:287014004 SNOMEDCT_US_2015_03_01:53417006 UMLS_CUI:C0158073 articular cartilage disorder of ankle and/or foot disease_ontology Articular cartilage disorder involving pelvic region and thigh ICD9CM_2006:718.05 Articular cartilage disorder of hand (disorder) SNOMEDCT_2005_07_31:90068007 Articular cartilage disorder of forearm (disorder) SNOMEDCT_2005_07_31:936009 Articular cartilage disorder involving upper arm ICD9CM_2006:718.02 Articular cartilage disorder of the shoulder region (disorder) SNOMEDCT_2005_07_31:202133001 Articular cartilage disorder of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:84970007 Articular cartilage disorder of the upper arm (disorder) SNOMEDCT_2005_07_31:202134007 Articular cartilage disorder of multiple sites (disorder) SNOMEDCT_2005_07_31:84097002 Articular cartilage disorder of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:202137000 Articular cartilage disorder involving hand ICD9CM_2006:718.04 Articular cartilage disorder of the forearm (disorder) SNOMEDCT_2005_07_31:202135008 Articular cartilage disorder involving ankle and foot ICD9CM_2006:718.07 Articular cartilage disorder involving forearm ICD9CM_2006:718.03 Articular cartilage disorder involving multiple sites ICD9CM_2006:718.09 Articular cartilage disorder of upper arm (disorder) SNOMEDCT_2005_07_31:9051008 Articular cartilage disorder of the hand (disorder) SNOMEDCT_2005_07_31:202136009 Articular cartilage disorder of the ankle and foot (disorder) SNOMEDCT_2005_07_31:202138005 Articular cartilage disorder of shoulder region (disorder) SNOMEDCT_2005_07_31:16547002 Articular cartilage disorder involving shoulder region ICD9CM_2006:718.01 peritoneal serous papillary adenocarcinoma DOID:6228 NCI:C7695 SNOMEDCT_US_2015_03_01:15674004 UMLS_CUI:C1368918 disease_ontology primary serous papillary carcinoma of peritoneum SNOMEDCT_2005_07_31:15674004 primary serous papillary carcinoma of peritoneum childhood mature teratoma of the ovary DOID:6229 NCI:C6548 UMLS_CUI:C1332991 disease_ontology pediatric Mature teratoma of Ovary NCI2004_11_17:C6548 pediatric Mature teratoma of Ovary childhood teratoma of the ovary DOID:6230 NCI:C6554 UMLS_CUI:C1332992 disease_ontology pediatric teratoma of Ovary NCI2004_11_17:C6554 pediatric teratoma of Ovary mature teratoma of the ovary DOID:6231 Mature teratoma of Ovary NCI:C8112 UMLS_CUI:C1334637 disease_ontology Mature teratoma of Ovary NCI2004_11_17:C8112 ovarian biphasic or triphasic teratoma DOID:6232 NCI:C39992 UMLS_CUI:C1518691 disease_ontology non-invasive bladder papillary urothelial neoplasm DOID:6238 DOID:6239 NCI:C27884 NCI:C39831 Papillary urothelial neoplasm of low malignant potential SNOMEDCT_US_2015_03_01:128625004 UMLS_CUI:C1266010 UMLS_CUI:C1518358 bladder PUNLMP bladder papillary neoplasm of low malignant potential disease_ontology NCI2004_11_17:C27884 bladder PUNLMP Papillary urothelial neoplasm of low malignant potential SNOMEDCT_2005_07_31:128625004 transient hypogammaglobulinemia of infancy DOID:624 ICD10CM:D80.7 NCI:C27071 SNOMEDCT_US_2015_03_01:88714009 Transient Hypogammaglobulinemia of Infancy Transient hypogammaglobulinemia of infancy (disorder) UMLS_CUI:C0272238 disease_ontology SNOMEDCT_2005_07_31:88714009 Transient hypogammaglobulinemia of infancy (disorder) NCI2004_11_17:C27071 Transient Hypogammaglobulinemia of Infancy transitional cell intraepithelial neoplasm DOID:6240 disease_ontology true familial renal oncocytoma DOID:6244 NCI:C8960 UMLS_CUI:C0879606 disease_ontology renal oncocytoma DOID:6245 MSH:C537750 NCI:C4526 OMIM mapping confirmed by DO. [SN]. OMIM:553000 Oncocytoma of kidney (disorder) SNOMEDCT_US_2015_03_01:254922006 UMLS_CUI:C0346255 disease_ontology renal epithelial Oncocytic tumor NCI2004_11_17:C4526 renal epithelial Oncocytic tumor Oncocytoma of kidney (disorder) SNOMEDCT_2005_07_31:254922006 oncocytic neoplasm DOID:6246 OMIM mapping confirmed by DO. [LS]. Oncocytic tumor disease_ontology true NCI2004_11_17:C7072 Oncocytic tumor mediastinum seminoma DOID:6249 NCI:C6812 Seminoma of mediastinum UMLS_CUI:C1334680 disease_ontology NCI2004_11_17:C6812 Seminoma of mediastinum transient hypogammaglobulinemia DOID:625 NCI:C27319 UMLS_CUI:C0859960 disease_ontology Epstein-Barr virus related carcinoma An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. DOID:6250 EBV Related carcinoma disease_ontology true EBV Related carcinoma NCI2004_11_17:C27690 An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. url:http://www.diagnosticpathology.org/content/2/1/25 growth hormone secreting pituitary adenoma DOID:6255 Growth Hormone Producing adenoma of the Pituitary MSH:D049912 NCI:C7461 OMIM mapping confirmed by DO. [SN]. OMIM:102200 SNOMEDCT_US_2015_03_01:254957009 Somatotroph adenoma (disorder) UMLS_CUI:C0346302 disease_ontology growth hormone secreting adenoma of pituitary SNOMEDCT_2005_07_31:254957009 Somatotroph adenoma (disorder) Growth Hormone Producing adenoma of the Pituitary NCI2004_11_17:C7461 malignant growth hormone secreting neoplasm of pituitary DOID:6256 NCI:C5963 UMLS_CUI:C1334587 disease_ontology malignant Somatotropinoma NCI2004_11_17:C5963 malignant Somatotropinoma chromophil adenoma of the kidney DOID:6257 NCI:C3687 Papillary adenoma of the kidney UMLS_CUI:C1518879 disease_ontology NCI2004_11_17:C3687 Papillary adenoma of the kidney type 1 papillary adenoma of the kidney DOID:6258 NCI:C39809 UMLS_CUI:C1519706 disease_ontology type 2 papillary adenoma of the kidney DOID:6259 NCI:C39810 UMLS_CUI:C1519710 disease_ontology complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. Complement deficiency Complement deficiency disease (disorder) DOID:626 ICD10CM:D80-D89 ICD10CM:D84.1 NCI:C4691 SNOMEDCT_US_2015_03_01:191014008 SNOMEDCT_US_2015_03_01:24743004 UMLS_CUI:C0272242 disease_ontology Complement deficiency NCI2004_11_17:C4691 A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. url:http://en.wikipedia.org/wiki/Complement_deficiency url:http://www.primaryimmune.org/publications/book_pats/e_ch01.pdf Complement deficiency SNOMEDCT_2005_07_31:191014008 Complement deficiency disease (disorder) SNOMEDCT_2005_07_31:24743004 follicular dendritic cell sarcoma A dendritic cell sarcoma cancer that effects the follicular dendritic cells. DOID:6262 Follicular Dendritic cell sarcoma Follicular dendritic cell tumour ICD10CM:C96.4 MSH:D054740 NCI:C9281 SNOMEDCT_US_2015_03_01:128816008 UMLS_CUI:C1260325 disease_ontology Follicular dendritic cell tumour SNOMEDCT_2005_07_31:128816008 Follicular Dendritic cell sarcoma NCI2004_11_17:C9281 A dendritic cell sarcoma cancer that effects the follicular dendritic cells. url:http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma inflammatory breast carcinoma DOID:6263 Inflammatory carcinoma of breast (disorder) MSH:D058922 Mastitis carcinomatosa NCI:C4001 SNOMEDCT_US_2015_03_01:254840009 UMLS_CUI:C0278601 disease_ontology Inflammatory carcinoma of breast (disorder) SNOMEDCT_2005_07_31:254840009 Mastitis carcinomatosa NCI2004_11_17:C4001 recurrent extraskeletal chondrosarcoma DOID:6268 disease_ontology relapsed extraskeletal chondrosarcoma true NCI2004_11_17:C8807 relapsed extraskeletal chondrosarcoma severe combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. DOID:627 MSH:D016511 NCI:C3472 SCID SNOMEDCT_US_2015_03_01:190994004 SNOMEDCT_US_2015_03_01:31323000 Severe combined immunodeficiency Severe combined immunodeficiency disease (disorder) UMLS_CUI:C0085110 combined T and B cell inborn immunodeficiency disease_ontology NCI2004_11_17:C3472 SCID SNOMEDCT_2005_07_31:190994004 Severe combined immunodeficiency MTHICD9_2006:279.2 SCID SNOMEDCT_2005_07_31:31323000 Severe combined immunodeficiency disease (disorder) A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. url:http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency url:http://www.scid.net/ CSP2005:1560-6660 combined T and B cell inborn immunodeficiency gastric cardia carcinoma DOID:6270 NCI:C6794 UMLS_CUI:C1333763 carcinoma of Cardia of stomach disease_ontology NCI2004_11_17:C6794 carcinoma of Cardia of stomach gastric cardia adenocarcinoma DOID:6271 NCI:C5247 UMLS_CUI:C1333762 adenocarcinoma of Cardia of stomach adenocarcinoma of gastric cardia disease_ontology NCI2004_11_17:C5247 adenocarcinoma of Cardia of stomach metastasis to pituitary gland DOID:6273 disease_ontology true malignant thyroid stimulating hormone producing neoplasm of pituitary gland DOID:6274 NCI:C5965 UMLS_CUI:C1334627 disease_ontology malignant Thyrotropinoma NCI2004_11_17:C5965 malignant Thyrotropinoma TSH producing pituitary tumor DOID:6275 NCI:C8011 SNOMEDCT_US_2015_03_01:254959007 TSH Secreting adenoma of the Pituitary TSH Secreting tumor of Pituitary Thyrotroph adenoma (disorder) UMLS_CUI:C0346303 disease_ontology NCI2004_11_17:C7915 TSH Secreting tumor of Pituitary NCI2004_11_17:C8011 TSH Secreting adenoma of the Pituitary SNOMEDCT_2005_07_31:254959007 Thyrotroph adenoma (disorder) malignant ACTH producing neoplasm of pituitary gland DOID:6276 NCI:C5964 UMLS_CUI:C1334556 disease_ontology malignant Corticotropinoma of the Pituitary NCI2004_11_17:C5964 malignant Corticotropinoma of the Pituitary ACTH-producing pituitary tumor DOID:6277 Pituitary Corticotropin Secreting tumor disease_ontology true NCI2004_11_17:C7909 Pituitary Corticotropin Secreting tumor ovarian mucinous malignant adenofibroma DOID:6278 NCI2009_04D:C40034 disease_ontology combined T cell and B cell immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. Congenital Combined Immunodeficiency DOID:628 ICD10CM:D81 ICD10CM:D81.9 ICD9CM:279.2 NCI:C27871 OMIM:312863 ORDO:101972 SNOMEDCT_US_2015_03_01:191003005 UMLS_CUI:C0494261 X-linked combined immunodeficiency Xref MGI. combined immunodeficiency disease_ontology Congenital Combined Immunodeficiency NCI2004_11_17:C27871 A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. url:http://en.wikipedia.org/wiki/Combined_immunodeficiencies url:http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 epicardium lipoma DOID:6284 Lipoma of Epicardium NCI:C6742 UMLS_CUI:C1333411 disease_ontology Lipoma of Epicardium NCI2004_11_17:C6742 heart lipoma DOID:6285 Lipoma of Heart NCI:C6741 UMLS_CUI:C1332849 disease_ontology Lipoma of Heart NCI2004_11_17:C6741 childhood cerebellar astrocytic neoplasm DOID:6286 NCI:C6286 UMLS_CUI:C0278594 disease_ontology pediatric astrocytoma of Cerebellum NCI2004_11_17:C6286 pediatric astrocytoma of Cerebellum recurrent pediatric cerebellar astrocytoma DOID:6287 disease_ontology relapsed pediatric astrocytoma of Cerebellum true NCI2004_11_17:C8389 relapsed pediatric astrocytoma of Cerebellum recurrent childhood brain tumor DOID:6288 disease_ontology relapsed tumor of pediatric brain true NCI2004_11_17:C7834 relapsed tumor of pediatric brain congenital disorder of natural immunity DOID:629 disease_ontology true cerebral hemisphere lipoma DOID:6291 Lipoma of the Cerebral Hemisphere NCI:C6220 UMLS_CUI:C1332907 disease_ontology Lipoma of the Cerebral Hemisphere NCI2004_11_17:C6220 intracranial lipoma DOID:6292 disease_ontology true central nervous system lipoma DOID:6293 Lipoma of the CNS NCI:C5451 UMLS_CUI:C1332885 disease_ontology Lipoma of the CNS NCI2004_11_17:C5451 corpus callosum lipoma DOID:6294 Lipoma of the Corpus Callosum NCI:C5438 UMLS_CUI:C1333160 disease_ontology Lipoma of the Corpus Callosum NCI2004_11_17:C5438 Herpes simplex virus esophagitis A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. DOID:6296 disease_ontology herpes simplex esophagitis true A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.nlm.nih.gov/medlineplus/ency/article/000646.htm viral esophagitis DOID:6297 NCI:C27108 SNOMEDCT_US_2015_03_01:235603003 UMLS_CUI:C0341110 Viral Esophagitis Viral esophagitis (disorder) disease_ontology NCI2004_11_17:C27108 Viral Esophagitis SNOMEDCT_2005_07_31:235603003 Viral esophagitis (disorder) genetic disease A disease that has_material_basis_in genetic variations in the human genome. DOID:630 MSH:D030342 NCI:C3101 SNOMEDCT_US_2015_03_01:264530000 SNOMEDCT_US_2015_03_01:32895009 UMLS_CUI:C0019247 disease_ontology A disease that has_material_basis_in genetic variations in the human genome. url:http://ghr.nlm.nih.gov/ prostate basal cell carcinoma DOID:6301 basal cell carcinoma of the prostate disease_ontology true ectopic thymus DOID:6307 NCI:C27804 UMLS_CUI:C1333375 disease_ontology metastatic transitional cell cancer of the renal pelvis and ureter DOID:6308 disease_ontology metastatic Urothelial carcinoma of the renal Pelvis and Ureter true NCI2004_11_17:C8064 metastatic Urothelial carcinoma of the renal Pelvis and Ureter fibromyalgia DOID:631 ICD10CM:M79.1 ICD10CM:M79.7 MSH:D005356 NCI:C50566 NCI:C87497 SNOMEDCT_US_2015_03_01:1304004 SNOMEDCT_US_2015_03_01:13612005 SNOMEDCT_US_2015_03_01:156727006 SNOMEDCT_US_2015_03_01:203082005 SNOMEDCT_US_2015_03_01:203101004 SNOMEDCT_US_2015_03_01:203102006 SNOMEDCT_US_2015_03_01:203111006 SNOMEDCT_US_2015_03_01:203138004 SNOMEDCT_US_2015_03_01:24693007 SNOMEDCT_US_2015_03_01:247365004 SNOMEDCT_US_2015_03_01:268107007 SNOMEDCT_US_2015_03_01:56557000 UMLS_CUI:C0016053 disease_ontology clivus chordoma A chordoma of skull base that is located in the clivus. Chordoma of Clivus DOID:6312 NCI:C5412 SNOMEDCT_US_2015_03_01:446939001 UMLS_CUI:C1333071 disease_ontology Chordoma of Clivus NCI2004_11_17:C5412 A chordoma of skull base that is located in the clivus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ clivus chondroid chordoma A chondroid chordoma and chordoma of the clivus that is located_in the clivus. Chondroid Chordoma of the Clivus DOID:6313 NCI:C5426 UMLS_CUI:C1333072 disease_ontology Chondroid Chordoma of the Clivus NCI2004_11_17:C5426 A chondroid chordoma and chordoma of the clivus that is located_in the clivus. url:http://emedicine.medscape.com/article/1263740-overview ovarian fetiform teratoma DOID:6314 NCI:C39996 UMLS_CUI:C1518715 disease_ontology ovarian solid teratoma DOID:6315 NCI:C7285 UMLS_CUI:C1335181 disease_ontology Bartholin's gland adenocarcinoma Bartholin gland adenocarcinoma DOID:6316 NCI:C7719 UMLS_CUI:C0238016 adenocarcinoma of bartholin's gland adenocarcinoma of the Bartholin's gland disease_ontology NCI2004_11_17:C7719 adenocarcinoma of the Bartholin's gland tibial adamantinoma An adamantinoma of long bone that is located_in the tibia. DOID:6322 NCI:C8461 SNOMEDCT_US_2015_03_01:189895006 SNOMEDCT_US_2015_03_01:210233007 SNOMEDCT_US_2015_03_01:281702006 SNOMEDCT_US_2015_03_01:313417009 SNOMEDCT_US_2015_03_01:56763007 Tibial adamantinoma Tibial adamantinoma (disorder) Tibial adamantinoma morphology UMLS_CUI:C1273017 disease_ontology SNOMEDCT_2005_07_31:210233007 Tibial adamantinoma morphology An adamantinoma of long bone that is located_in the tibia. url:http://emedicine.medscape.com/article/385977-overview SNOMEDCT_2005_07_31:313417009 Tibial adamantinoma SNOMEDCT_2005_07_31:281702006 Tibial adamantinoma (disorder) SNOMEDCT_2005_07_31:189895006 Tibial adamantinoma NCI2004_11_17:C8461 Tibial adamantinoma ovarian dermoid cyst with adenocarcinoma DOID:6327 disease_ontology true ovarian dermoid cyst with secondary carcinoma DOID:6328 disease_ontology true ovarian dermoid cyst with secondary tumor DOID:6329 disease_ontology true myositis A myopathy characterized by muscle inflammation. DOID:633 ICD10CM:G72.49 ICD10CM:M60 ICD10CM:M60.9 Inflammatory disorder of muscle (disorder) MSH:D009220 NCI:C27578 OMIM mapping confirmed by DO. [SN]. OMIM:160750 SNOMEDCT_US_2015_03_01:128496001 SNOMEDCT_US_2015_03_01:203110007 SNOMEDCT_US_2015_03_01:268108002 SNOMEDCT_US_2015_03_01:26889001 UMLS_CUI:C0027121 disease_ontology Inflammatory disorder of muscle (disorder) SNOMEDCT_2005_07_31:128496001 A myopathy characterized by muscle inflammation. url:http://www.nlm.nih.gov/medlineplus/myositis.html url:https://en.wikipedia.org/wiki/Myositis immature teratoma of ovary DOID:6331 Immature teratoma of ovary (disorder) NCI:C8111 SNOMEDCT_US_2015_03_01:254871000 UMLS_CUI:C0346182 disease_ontology malignant teratoma of Ovary Immature teratoma of ovary (disorder) SNOMEDCT_2005_07_31:254871000 NCI2004_11_17:C8111 malignant teratoma of Ovary adult malignant hemangiopericytoma DOID:6332 NCI:C7946 UMLS_CUI:C0279547 disease_ontology adult intracranial malignant hemangiopericytoma DOID:6333 NCI:C9183 UMLS_CUI:C1334558 adult malignant intracranial hemangiopericytoma disease_ontology NCI2004_11_17:C9183 adult malignant intracranial hemangiopericytoma anterior optic tract meningioma DOID:6334 NCI:C7538 UMLS_CUI:C1332308 disease_ontology bilateral meningioma of optic nerve Bilateral meningioma of the optic nerve DOID:6335 NCI:C5304 UMLS_CUI:C1332551 disease_ontology Bilateral meningioma of the optic nerve NCI2004_11_17:C5304 cerebellopontine angle meningioma Cerebellopontine angle meningioma (disorder) DOID:6337 NCI:C5300 SNOMEDCT_US_2015_03_01:126948004 UMLS_CUI:C1263882 disease_ontology meningioma of the Cerebellar Pontine Angle NCI2004_11_17:C5300 meningioma of the Cerebellar Pontine Angle Cerebellopontine angle meningioma (disorder) SNOMEDCT_2005_07_31:126948004 testicular tumor of the thecoma fibroma group DOID:6338 disease_ontology true vulvar eccrine adenocarcinoma DOID:6339 NCI2009_04D:C40305 disease_ontology melanocytic psammomatous MPNST DOID:6344 NCI:C6910 UMLS_CUI:C1513101 disease_ontology malignant melanocytic neoplasm of the peripheral nerve sheath DOID:6345 Melanotic malignant nerve sheath tumor (disorder) Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality) Melanotic malignant peripheral nerve sheath tumour NCI:C4748 SNOMEDCT_US_2015_03_01:253094006 SNOMEDCT_US_2015_03_01:253095007 SNOMEDCT_US_2015_03_01:404039004 UMLS_CUI:C0474847 disease_ontology melanocytic MPNST Melanotic malignant peripheral nerve sheath tumour SNOMEDCT_2005_07_31:253095007 Melanotic malignant nerve sheath tumor (disorder) SNOMEDCT_2005_07_31:404039004 Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253094006 NCI2004_11_17:C4748 melanocytic MPNST acquired immunodeficiency syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. AIDS DOID:635 EFO:0000765 ICD10CM:B20 MSH:D000163 NCI:C2851 OMIM:609423 SNOMEDCT_US_2015_03_01:186705005 SNOMEDCT_US_2015_03_01:186715004 SNOMEDCT_US_2015_03_01:234644008 SNOMEDCT_US_2015_03_01:266201009 SNOMEDCT_US_2015_03_01:62479008 UMLS_CUI:C0001175 acquired Immune deficiency acquired immune deficiency syndrome disease_ontology A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. url:http://en.wikipedia.org/wiki/AIDS url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids SNOMEDCT_2005_07_31:186705005 acquired immune deficiency syndrome NCI2004_11_17:C2851 acquired Immune deficiency CLL/SLL A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. DOID:6354 NCI:C27911 SNOMEDCT_US_2015_03_01:399607007 UMLS_CUI:C1302547 chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:399607007 chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. url:http://www.cancer.gov/dictionary?CdrID=641291 central pontine myelinolysis DOID:636 ICD10CM:G37.2 MSH:D017590 NCI:C84623 SNOMEDCT_US_2015_03_01:6807001 UMLS_CUI:C0206083 central pontine myelinolysis (disorder) central pontine myelinosis disease_ontology SNOMEDCT_2005_07_31:6807001 central pontine myelinolysis (disorder) MTHICD9_2006:341.8 central pontine myelinosis renal cell carcinoma with constitutional chromosome 3 translocations DOID:6361 disease_ontology true migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. DOID:12437 DOID:6364 EFO:0003821 ICD10CM:G43 ICD10CM:G43.9 ICD10CM:G43.909 ICD9CM:346 ICD9CM:346.9 MSH:D008881 NCI:C89715 OMIM:157300 OMIM:613656 SNOMEDCT_US_2015_03_01:155046006 SNOMEDCT_US_2015_03_01:155048007 SNOMEDCT_US_2015_03_01:193030005 SNOMEDCT_US_2015_03_01:193036004 SNOMEDCT_US_2015_03_01:193041007 SNOMEDCT_US_2015_03_01:267699004 SNOMEDCT_US_2015_03_01:37796009 UMLS_CUI:C0042331 UMLS_CUI:C0149931 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology migraine disorder migraine variant migraine with or without aura A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.com/health/migraine-headache/DS00120 acral lentiginous melanoma A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. DOID:6367 acral lentiginous melanoma, malignant (morphologic abnormality) disease_ontology malignant acral lentiginous melanoma SNOMEDCT_2005_07_31:16974005 acral lentiginous melanoma, malignant (morphologic abnormality) A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. url:http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma url:http://en.wikipedia.org/wiki/Lentigo url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/ SNOMEDCT_2005_07_31:189755003 malignant acral lentiginous melanoma metabolic brain disease DOID:637 Metabolic encephalopathy Metabolic encephalopathy (disorder) disease_ontology true Metabolic encephalopathy (disorder) SNOMEDCT_2005_07_31:50122000 Metabolic encephalopathy SNOMEDCT_2005_07_31:276258006 ICD9CM_2006:348.31 Metabolic encephalopathy hepatic osteogenic sarcoma DOID:6370 NCI:C5833 Osteosarcoma of Liver UMLS_CUI:C1333974 disease_ontology NCI2004_11_17:C5833 Osteosarcoma of Liver hypersplenism DOID:6376 ICD10CM:D73.1 ICD9CM:289.4 MSH:D006971 NCI:C34714 SNOMEDCT_US_2015_03_01:154839008 SNOMEDCT_US_2015_03_01:267570002 SNOMEDCT_US_2015_03_01:58381000 UMLS_CUI:C0020532 disease_ontology hypersplenia hypersplenism (disorder) SNOMEDCT_2005_07_31:58381000 hypersplenism (disorder) MTHICD9_2006:289.4 hypersplenia diffuse meningeal melanocytosis DOID:6379 Diffuse Melanosis Diffuse melanocytosis (morphologic abnormality) NCI:C6890 SNOMEDCT_US_2015_03_01:128729004 UMLS_CUI:C1266112 disease_ontology Diffuse Melanosis NCI2004_11_17:C6890 Diffuse melanocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:128729004 demyelinating disease of central nervous system DOID:638 disease_ontology true anterior foramen magnum meningioma DOID:6381 NCI:C5281 UMLS_CUI:C1332302 disease_ontology meningioma of the Anterior Foramen Magnum NCI2004_11_17:C5281 meningioma of the Anterior Foramen Magnum recurrent childhood glioma of brain stem DOID:6382 disease_ontology relapsed pediatric glioma of Brainstem true NCI2004_11_17:C9190 relapsed pediatric glioma of Brainstem childhood brain stem glioma DOID:6383 NCI:C9042 UMLS_CUI:C0278600 disease_ontology pediatric glioma of the Brainstem NCI2004_11_17:C9042 pediatric glioma of the Brainstem recurrent childhood central nervous system tumor DOID:6384 disease_ontology true recurrent childhood brainstem astrocytoma DOID:6385 disease_ontology true childhood brainstem astrocytoma DOID:6386 NCI:C6216 UMLS_CUI:C1332950 disease_ontology acute disseminated encephalomyelitis ADEM An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. DOID:639 MSH:D004673 NCI:C34578 SNOMEDCT_US_2015_03_01:83942000 UMLS_CUI:C0014059 acute Disseminated Encephalomyelitis acute disseminated encephalitis acute disseminated encephalomyelitis (disorder) disease_ontology SNOMEDCT_2005_07_31:83942000 acute disseminated encephalomyelitis (disorder) CSP2005:2042-4989 acute disseminated encephalitis An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis url:http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm CSP2005:0944-4849 acute disseminated encephalitis NCI2004_11_17:C34578 acute Disseminated Encephalomyelitis ADEM ICD9CM:323.61 epithelial tissue disease DOID:64 disease_ontology true encephalomyelitis DOID:640 Encephalitis &/or myelitis MSH:D004679 NCI:C34580 SNOMEDCT_US_2015_03_01:154991009 SNOMEDCT_US_2015_03_01:192682002 SNOMEDCT_US_2015_03_01:192735003 SNOMEDCT_US_2015_03_01:192736002 SNOMEDCT_US_2015_03_01:230196000 SNOMEDCT_US_2015_03_01:267682000 SNOMEDCT_US_2015_03_01:267684004 SNOMEDCT_US_2015_03_01:286936006 SNOMEDCT_US_2015_03_01:62950007 UMLS_CUI:C0014070 disease_ontology Encephalitis &/or myelitis SNOMEDCT_2005_07_31:267682000 metanephric adenoma DOID:6404 Metanephric adenoma (morphologic abnormality) NCI:C27253 SNOMEDCT_US_2015_03_01:128670007 UMLS_CUI:C1266045 disease_ontology Metanephric adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128670007 ovarian papillary cystadenoma DOID:6405 NCI:C7278 UMLS_CUI:C1335175 disease_ontology double outlet right ventricle DOID:6406 Dextrotransposition of aorta (disorder) Double outlet right ventricle Double outlet right ventricle (disorder) Double outlet right ventricle NOS (disorder) Double outlet right ventricle with subpulmonary ventricular septal defect Double outlet right ventricle, unspecified (disorder) ICD10CM:Q20.1 ICD9CM:745.11 MSH:D004310 NCI:C98916 OMIM mapping confirmed by DO. [SN]. OMIM:217095 SNOMEDCT_US_2015_03_01:204298001 SNOMEDCT_US_2015_03_01:204302009 SNOMEDCT_US_2015_03_01:7484005 Taussig-Bing syndrome or defect UMLS_CUI:C0013069 disease_ontology Double outlet right ventricle (disorder) SNOMEDCT_2005_07_31:7484005 Double outlet right ventricle, unspecified (disorder) SNOMEDCT_2005_07_31:204298001 MTHICD9_2006:745.11 Taussig-Bing syndrome or defect Double outlet right ventricle with subpulmonary ventricular septal defect SNOMEDCT_2005_07_31:204301002 Double outlet right ventricle ICD9CM_2006:745.11 Dextrotransposition of aorta (disorder) SNOMEDCT_2005_07_31:204299009 Double outlet right ventricle NOS (disorder) SNOMEDCT_2005_07_31:204302009 ovarian surface papilloma DOID:6407 NCI:C7279 UMLS_CUI:C1335183 disease_ontology ovary papillary carcinoma DOID:6408 NCI:C6256 UMLS_CUI:C1335178 disease_ontology serous Surface Papillary carcinoma of Ovary NCI2004_11_17:C6256 serous Surface Papillary carcinoma of Ovary CNS demyelinating autoimmune disease DOID:641 disease_ontology true tetralogy of Fallot DOID:6419 ICD10CM:Q21.3 ICD9CM:745.2 MSH:D013771 NCI:C84505 OMIM mapping confirmed by DO. [LS]. OMIM:187500 SNOMEDCT_US_2015_03_01:156913009 SNOMEDCT_US_2015_03_01:204305006 SNOMEDCT_US_2015_03_01:204307003 SNOMEDCT_US_2015_03_01:268177006 SNOMEDCT_US_2015_03_01:86299006 UMLS_CUI:C0039685 Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle disease_ontology MTHICD9_2006:745.2 Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle demyelinating encephalopathy DOID:642 disease_ontology true pulmonary valve stenosis DOID:6420 MSH:D011666 SNOMEDCT_US_2015_03_01:56786000 UMLS_CUI:C0034089 disease_ontology childhood central nervous system mature teratoma DOID:6423 NCI:C27404 UMLS_CUI:C1332955 disease_ontology pediatric CNS teratoma DOID:6424 disease_ontology pediatric teratoma of central nervous system true NCI2004_11_17:C6204 pediatric teratoma of central nervous system eyelid carcinoma DOID:6425 NCI:C6078 UMLS_CUI:C0920196 carcinoma of the eyelid disease_ontology NCI2004_11_17:C6078 carcinoma of the eyelid cervical adenoid basal carcinoma DOID:6428 NCI:C40213 UMLS_CUI:C1516403 disease_ontology progressive multifocal leukoencephalopathy A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. DOID:643 ICD10CM:A81.2 ICD9CM:046.3 MSH:D007968 NCI:C26815 PML SNOMEDCT_US_2015_03_01:22255007 UMLS_CUI:C0023524 disease_ontology A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. url:http://www.merck.com/mmpe/sec16/ch217/ch217f.html url:http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy url:http://www.ninds.nih.gov/disorders/pml/pml.htm CSP2005:2042-2309 PML pulmonary hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. DOID:6432 ICD10CM:I27.2 MSH:D006976 NCI:C3120 SNOMEDCT_US_2015_03_01:155328008 SNOMEDCT_US_2015_03_01:266293003 SNOMEDCT_US_2015_03_01:70995007 UMLS_CUI:C0020542 disease_ontology A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. PMID:19555858 url:https://en.wikipedia.org/wiki/Pulmonary_hypertension malignant choroid melanoma DOID:6438 NCI:C4561 SNOMEDCT_US_2015_03_01:255021005 UMLS_CUI:C0346388 disease_ontology malignant melanoma of choroid (disorder) melanoma of the Choroid SNOMEDCT_2005_07_31:255021005 malignant melanoma of choroid (disorder) NCI2004_11_17:C4561 melanoma of the Choroid leukoencephalopathy DOID:644 Leukoencephalopathy (disorder) disease_ontology true Leukoencephalopathy (disorder) SNOMEDCT_2005_07_31:22811006 ovarian endometrioid malignant adenofibroma DOID:6445 NCI:C40060 UMLS_CUI:C1518711 disease_ontology ceruminous carcinoma Ceruminous adenocarcinoma Ceruminous adenocarcinoma (morphologic abnormality) DOID:6446 NCI:C4176 SNOMEDCT_US_2015_03_01:58069009 UMLS_CUI:C0334353 disease_ontology Ceruminous adenocarcinoma NCI2004_11_17:C4176 Ceruminous adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:58069009 ceruminous tumor DOID:6447 disease_ontology true vulvar apocrine adenocarcinoma DOID:6448 NCI2009_04D:C40308 disease_ontology central nervous system fibrosarcoma DOID:6451 Fibrosarcoma of the CNS NCI:C5465 UMLS_CUI:C1332879 disease_ontology Fibrosarcoma of the CNS NCI2004_11_17:C5465 Cowden disease An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. DOID:3471 DOID:6457 Lhermitte-Duclos disease (disorder) MSH:D006223 NCI:C3076 NCI:C8419 OMIM:158350 OMIM:612359 OMIM:615106 OMIM:615107 OMIM:615109 ORDO:201 SNOMEDCT_US_2015_03_01:58037000 SNOMEDCT_US_2015_03_01:67944007 UMLS_CUI:C0018553 UMLS_CUI:C0391826 Xref MGI. MERGED COMMENT: TARGET COMMENT: OMIM mapping confirmed by DO. [SN]. -------------------- SOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. disease_ontology dysplastic Gangliocytoma of Cerebellum multiple hamartoma syndrome An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. url:http://en.wikipedia.org/wiki/Cowden_syndrome url:http://ghr.nlm.nih.gov/condition/cowden-syndrome url:http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1 NCI2004_11_17:C8419 dysplastic Gangliocytoma of Cerebellum Lhermitte-Duclos disease (disorder) SNOMEDCT_2005_07_31:67944007 cerebellar liponeurocytoma Cerebellar liponeurocytoma DOID:6458 Lipomatous Medulloblastoma NCI:C6905 SNOMEDCT_US_2015_03_01:128858006 UMLS_CUI:C1370507 disease_ontology Cerebellar liponeurocytoma SNOMEDCT_2005_07_31:128858006 Lipomatous Medulloblastoma NCI2004_11_17:C6905 lipoma of the rectum DOID:6459 Lipoma of rectum NCI:C5551 UMLS_CUI:C1335684 disease_ontology Lipoma of rectum NCI2004_11_17:C5551 viral encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. Arbovirus encephalitis Arbovirus encephalitis (disorder) Arbovirus encephalitis (disorder) [Ambiguous] Arthropod-borne viral encephalitis, vector unknown Arthropod-borne viral encephalitis, vector unknown (disorder) DOID:10248 DOID:10249 DOID:10839 DOID:646 Encephalitis - viral Encephalitis in viral disease NOS (disorder) Epidemic Encephalitis Epidemic encephalitis Epidemic encephalitis (disorder) MSH:D004671 NCI:C34576 SNOMEDCT_US_2015_03_01:186498004 SNOMEDCT_US_2015_03_01:186499007 SNOMEDCT_US_2015_03_01:192687008 SNOMEDCT_US_2015_03_01:20411005 SNOMEDCT_US_2015_03_01:285756005 SNOMEDCT_US_2015_03_01:68197003 UMLS_CUI:C0014055 Unspecified viral encephalitis (disorder) Viral Encephalitis Viral encephalitis (disorder) Viral encephalitis NOS arbovirus encephalitis disease_ontology epidemic encephalitis mosquito-borne viral encephalitis tick-borne viral encephalitis Encephalitis - viral SNOMEDCT_2005_07_31:266190006 SNOMEDCT_2005_07_31:187400005 Unspecified viral encephalitis (disorder) Arthropod-borne viral encephalitis, vector unknown MTHICD9_2006:064 An encephalitis that involves inflammation of the brain caused by viral infection. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 Epidemic encephalitis (disorder) SNOMEDCT_2005_07_31:186498004 Epidemic Encephalitis NCI2004_11_17:C34576 Arthropod-borne viral encephalitis, vector unknown (disorder) SNOMEDCT_2005_07_31:285756005 Arbovirus encephalitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:68197003 Encephalitis - viral SNOMEDCT_2005_07_31:154321007 CSP2005:2042-4896 epidemic encephalitis Encephalitis in viral disease NOS (disorder) SNOMEDCT_2005_07_31:192694006 Arbovirus encephalitis (disorder) SNOMEDCT_2005_07_31:192687008 Epidemic encephalitis SNOMEDCT_2005_07_31:186499007 SNOMEDCT_2005_07_31:20411005 NCI2004_11_17:C35302 Viral Encephalitis Arbovirus encephalitis MTH:NOCODE SNOMEDCT_2005_07_31:34476008 Viral encephalitis (disorder) SNOMEDCT_2005_07_31:186503001 Viral encephalitis NOS large intestine lipoma DOID:6460 Lipoma of large Intestine NCI:C5678 UMLS_CUI:C1333114 disease_ontology Lipoma of large Intestine NCI2004_11_17:C5678 bone recurrent Ewing's sarcoma DOID:6467 disease_ontology relapsed Skeletal Ewing's sarcoma true NCI2004_11_17:C6622 relapsed Skeletal Ewing's sarcoma mucinous cystadenofibroma DOID:6468 NCI:C8979 SNOMEDCT_US_2015_03_01:10705005 UMLS_CUI:C1377844 disease_ontology ovarian mucinous adenofibroma DOID:6469 NCI:C40040 UMLS_CUI:C1518723 disease_ontology Polyomavirus infectious disease A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. DOID:647 disease_ontology true A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. url:http://en.wikipedia.org/wiki/Polyomavirus childhood teratocarcinoma of the testis DOID:6474 NCI:C6539 UMLS_CUI:C1333008 disease_ontology pediatric testicular Teratocarcinoma NCI2004_11_17:C6539 pediatric testicular Teratocarcinoma clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 NCI:C39827 UMLS_CUI:C1512737 disease_ontology invasive bladder transitional cell carcinoma DOID:6477 Invasive bladder Urothelial carcinoma NCI:C27885 UMLS_CUI:C1334281 disease_ontology Invasive bladder Urothelial carcinoma NCI2004_11_17:C27885 kuru DOID:648 ICD10CM:A81.81 ICD9CM:046.0 MSH:D007729 SNOMEDCT_US_2015_03_01:192684001 SNOMEDCT_US_2015_03_01:86188000 UMLS_CUI:C0022802 disease_ontology kuru encephalopathy bladder signet ring cell adenocarcinoma DOID:6481 NCI:C6163 UMLS_CUI:C1332563 disease_ontology signet ring cell adenocarcinoma of bladder urinary bladder Signet Ring adenocarcinoma NCI2004_11_17:C6163 urinary bladder Signet Ring adenocarcinoma lung acinar adenocarcinoma DOID:6482 NCI:C5649 UMLS_CUI:C1332137 acinar adenocarcinoma of the lung disease_ontology NCI2004_11_17:C5649 acinar adenocarcinoma of the lung rete testis adenoma DOID:6483 NCI:C39956 UMLS_CUI:C1514910 disease_ontology mediastinal melanocytic neurilemmoma DOID:6484 NCI:C6635 UMLS_CUI:C1334668 disease_ontology melanocytic Schwannoma of mediastinum NCI2004_11_17:C6635 melanocytic Schwannoma of mediastinum metastatic tumor to the iris DOID:6488 disease_ontology true periosteal osteogenic sarcoma DOID:6489 NCI:C8970 Periosteal Osteosarcoma Periosteal osteogenic sarcoma Periosteal osteosarcoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:128772005 SNOMEDCT_US_2015_03_01:91242000 UMLS_CUI:C1377843 disease_ontology Periosteal osteogenic sarcoma SNOMEDCT_2005_07_31:91242000 MTH:NOCODE Periosteal Osteosarcoma Periosteal osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128772005 prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. DOID:649 ICD10CM:A81.9 KEGG:05020 MSH:D017096 NCI:C27585 Prion disease pathway Prion protein disease SNOMEDCT_US_2015_03_01:193172009 SNOMEDCT_US_2015_03_01:20484008 SNOMEDCT_US_2015_03_01:230284004 Spongiform Encephalopathy UMLS_CUI:C0162534 disease_ontology prion induced disorder transmissible spongiform encephalopathy NCI2004_11_17:C27585 Spongiform Encephalopathy A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. url:http://en.wikipedia.org/wiki/Prion url:http://www.cdc.gov/ncidod/dvrd/prions/ url:http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/prion_diseases_134,56/ CSP2005:2042-5040 prion induced disorder Prion protein disease SNOMEDCT_2005_07_31:193172009 NCI2004_11_17:C38853 Prion disease pathway breast capillary hemangioma Capillary Angioma of breast DOID:6491 NCI:C5210 UMLS_CUI:C1332619 disease_ontology Capillary Angioma of breast NCI2004_11_17:C5210 breast epithelioid hemangioma DOID:6492 NCI:C5211 UMLS_CUI:C1332627 breast Histiocytoid hemangioma disease_ontology NCI2004_11_17:C5211 breast Histiocytoid hemangioma pediatric myxoid chondrosarcoma DOID:6494 NCI:C27377 UMLS_CUI:C1332984 disease_ontology adult myxoid chondrosarcoma An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. DOID:6495 NCI:C27378 UMLS_CUI:C1332209 disease_ontology An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970409-0 extraskeletal myxoid chondrosarcoma An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. DOID:6496 MSH:C563195 Myxoid extraosseous chondrosarcoma NCI:C27502 OMIM mapping confirmed by DO. [SN]. OMIM:612237 SNOMEDCT_US_2015_03_01:404079008 UMLS_CUI:C1275278 disease_ontology extraskeletal myxoid chondrosarcoma (disorder) SNOMEDCT_2005_07_31:404079008 extraskeletal myxoid chondrosarcoma (disorder) Myxoid extraosseous chondrosarcoma NCI2004_11_17:C27502 An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. url:http://en.wikipedia.org/wiki/Chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_tumor url:http://www.ncbi.nlm.nih.gov/pubmed/10564384 seborrheic keratosis DOID:6498 ICD10CM:L82 ICD10CM:L82.1 ICD9CM:702.1 MSH:D017492 NCI:C9006 OMIM mapping confirmed by DO. [SN]. OMIM:182000 SNOMEDCT_US_2015_03_01:156400006 SNOMEDCT_US_2015_03_01:201096007 SNOMEDCT_US_2015_03_01:201107006 SNOMEDCT_US_2015_03_01:25499005 SNOMEDCT_US_2015_03_01:267860005 SNOMEDCT_US_2015_03_01:394726009 SNOMEDCT_US_2015_03_01:394727000 SNOMEDCT_US_2015_03_01:398838000 SNOMEDCT_US_2015_03_01:50563003 UMLS_CUI:C0022603 disease_ontology connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. Connective tissue dis. Connective tissue disease Connective tissue disorder DOID:65 MSH:D003240 NCI:C26729 Other musculoskelet/connectiv SNOMEDCT_US_2015_03_01:105969002 SNOMEDCT_US_2015_03_01:201432001 SNOMEDCT_US_2015_03_01:268048008 SNOMEDCT_US_2015_03_01:268126004 UMLS_CUI:C0009782 connective tissue disorder disease_ontology disorder of connective tissue (disorder) Connective tissue disease MTH:NOCODE CSP2005:0729-7208 connective tissue disorder Other musculoskelet/connectiv SNOMEDCT_2005_07_31:268126004 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp Connective tissue disorder NCI2004_11_17:C26729 Connective tissue disease SNOMEDCT_2005_07_31:201432001 Connective tissue dis. SNOMEDCT_2005_07_31:268048008 SNOMEDCT_2005_07_31:105969002 disorder of connective tissue (disorder) cerebellar angioblastoma DOID:6500 Hemangioblastoma of Cerebellum NCI:C5146 UMLS_CUI:C1332900 disease_ontology Hemangioblastoma of Cerebellum NCI2004_11_17:C5146 brain stem angioblastoma DOID:6501 Hemangioblastoma of Brainstem NCI:C5147 UMLS_CUI:C1332611 disease_ontology Hemangioblastoma of Brainstem NCI2004_11_17:C5147 vaginal spindle cell epithelioma DOID:6505 NCI:C40280 UMLS_CUI:C1511107 disease_ontology anaplastic seminoma DOID:6506 Seminoma with high mitotic index disease_ontology testicular Seminoma with High Mitotic Index true SNOMEDCT_2005_07_31:72907003 Seminoma with high mitotic index NCI2004_11_17:C39920 testicular Seminoma with High Mitotic Index lung occult squamous cell carcinoma DOID:6510 NCI:C6686 Occult squamous cell carcinoma of the lung UMLS_CUI:C1335100 disease_ontology occult squamous cell carcinoma of lung NCI2004_11_17:C6686 Occult squamous cell carcinoma of the lung glandular pattern ovarian yolk sac tumor DOID:6511 NCI:C39988 UMLS_CUI:C1518747 disease_ontology hepatoid pattern ovarian yolk sac tumor DOID:6512 NCI:C39989 UMLS_CUI:C1518748 disease_ontology polyvesicular vitelline pattern ovarian yolk sac tumor DOID:6514 NCI:C39987 UMLS_CUI:C1518749 disease_ontology clivus meningioma DOID:6517 NCI:C5289 UMLS_CUI:C1333073 disease_ontology meningioma of the Clivus NCI2004_11_17:C5289 meningioma of the Clivus Bartholin's gland adenomyoma Bartholin gland adenomyoma DOID:6518 NCI:C40300 UMLS_CUI:C1511049 disease_ontology congenital musculoskeletal abnormality Congenital malformation and deformation of the musculoskeletal system (disorder) Congenital malformations and deformations of the musculoskeletal system (disorder) Congenital musculoskeletal anomalies NOS Congenital musculoskeletal anomalies NOS (disorder) Congenital musculoskeletal deformities Congenital musculoskeletal deformity NOS (disorder) DOID:652 Skeletal anomaly-congen congenital musculoskeletal anomaly disease_ontology true Congenital malformation and deformation of the musculoskeletal system (disorder) SNOMEDCT_2005_07_31:73573004 Congenital malformations and deformations of the musculoskeletal system (disorder) SNOMEDCT_2005_07_31:205947008 SNOMEDCT_2005_07_31:268336000 Skeletal anomaly-congen Congenital musculoskeletal anomalies NOS (disorder) SNOMEDCT_2005_07_31:268281003 Congenital musculoskeletal deformity NOS (disorder) SNOMEDCT_2005_07_31:205117007 Congenital musculoskeletal deformities SNOMEDCT_2005_07_31:205033007 Congenital musculoskeletal anomalies NOS SNOMEDCT_2005_07_31:156998001 Congenital musculoskeletal anomalies NOS SNOMEDCT_2005_07_31:205535007 mixed cell uveal melanoma DOID:6522 NCI:C35781 UMLS_CUI:C1334782 disease_ontology ciliary body mixed cell melanoma DOID:6523 NCI:C35783 UMLS_CUI:C1333051 disease_ontology malignant ciliary body melanoma DOID:6524 NCI:C4558 SNOMEDCT_US_2015_03_01:255015006 UMLS_CUI:C0346379 disease_ontology malignant melanoma of ciliary body (disorder) melanoma of the Ciliary body NCI2004_11_17:C4558 melanoma of the Ciliary body SNOMEDCT_2005_07_31:255015006 malignant melanoma of ciliary body (disorder) choroid mixed cell melanoma DOID:6525 NCI:C35782 UMLS_CUI:C1333025 disease_ontology purine-pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. DOID:653 ICD10CM:E79.8 ICD9CM:277.2 SNOMEDCT_US_2015_03_01:190917005 SNOMEDCT_US_2015_03_01:190922005 SNOMEDCT_US_2015_03_01:191109006 SNOMEDCT_US_2015_03_01:267450006 UMLS_CUI:C0029595 disease_ontology inborn errors of purine-pyrimidine metabolism An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism cortical thymoma DOID:6530 NCI:C6888 Polygonal cell Thymoma SNOMEDCT_US_2015_03_01:128713007 Thymoma, cortical UMLS_CUI:C1266095 disease_ontology NCI2004_11_17:C6888 Polygonal cell Thymoma SNOMEDCT_2005_07_31:128713007 Thymoma, cortical monomorphic B-cell PTLD DOID:6532 disease_ontology true monomorphic PTLD DOID:6533 disease_ontology true plasma cell PTLD DOID:6535 disease_ontology true plasma cell neoplasm DOID:6536 EFO:0000200 MSH:D010265 Plasma cell dyscrasia (disorder) Plasma cell tumour Plasmacytic tumor SNOMEDCT_US_2015_03_01:277576009 SNOMEDCT_US_2015_03_01:71390001 UMLS_CUI:C1136084 disease_ontology Plasma cell dyscrasia (disorder) SNOMEDCT_2005_07_31:71390001 NCI2004_11_17:C4665 Plasmacytic tumor Plasma cell tumour SNOMEDCT_2005_07_31:274907000 overnutrition DOID:654 MSH:D044343 SNOMEDCT_US_2015_03_01:302872003 UMLS_CUI:C1257763 Updated outdated UMLS CUI. disease_ontology transient organic mental disorder DOID:6540 disease_ontology true acne A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. Acne varioliformis DOID:6543 DOID:9906 ICD10CM:L70 ICD10CM:L70.2 ICD10CM:L70.9 ICD9CM:706.0 MTH:217 NCI:C27195 OMIM:604324 SNOMEDCT_US_2015_03_01:11381005 SNOMEDCT_US_2015_03_01:201210008 SNOMEDCT_US_2015_03_01:201211007 SNOMEDCT_US_2015_03_01:201212000 SNOMEDCT_US_2015_03_01:201229002 SNOMEDCT_US_2015_03_01:201408008 SNOMEDCT_US_2015_03_01:23894009 SNOMEDCT_US_2015_03_01:267815009 UMLS_CUI:C0152249 UMLS_CUI:C0702166 acne vulgaris disease_ontology frontalis acne A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance Acne varioliformis ICD9CM_2006:706.0 atypical meningioma Atypical meningioma Atypical meningioma (morphologic abnormality) DOID:6544 disease_ontology true Atypical meningioma NCI2004_11_17:C4723 Atypical meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:128914005 adult atypical meningioma DOID:6545 disease_ontology true secondary cardiac lymphoma DOID:6546 disease_ontology secondary Heart Lymphoma true NCI2004_11_17:C5369 secondary Heart Lymphoma heart lymphoma DOID:6547 Lymphoma of Heart NCI:C5368 UMLS_CUI:C1332850 disease_ontology Lymphoma of Heart NCI2004_11_17:C5368 angiomatous meningioma Angiomatous meningioma (morphologic abnormality) DOID:6548 MSH:D008579 NCI:C4332 SNOMEDCT_US_2015_03_01:73918009 UMLS_CUI:C0334608 disease_ontology Angiomatous meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:73918009 schistosoma hematobium-related bladder verrucous squamous cell carcinoma DOID:6549 disease_ontology true inherited metabolic disorder A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. DOID:655 Inborn Errors of Metabolism MSH:D008661 Metabolic hereditary disorder NCI:C34816 SNOMEDCT_US_2015_03_01:363205007 SNOMEDCT_US_2015_03_01:86095007 UMLS_CUI:C0025521 disease_ontology inborn metabolism disorder Inborn Errors of Metabolism NCI2004_11_17:C34816 CSP2005:1849-0057 inborn metabolism disorder Metabolic hereditary disorder SNOMEDCT_2005_07_31:363205007 A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 gastric small cell carcinoma DOID:6552 NCI:C6764 UMLS_CUI:C1333788 disease_ontology small cell carcinoma of stomach NCI2004_11_17:C6764 small cell carcinoma of stomach posterior foramen magnum meningioma DOID:6553 NCI:C5282 UMLS_CUI:C1335449 disease_ontology meningioma of the Posterior Foramen Magnum NCI2004_11_17:C5282 meningioma of the Posterior Foramen Magnum ovarian clear cell malignant adenofibroma DOID:6554 NCI2009_04D:C40079 disease_ontology hamartoma of Spinal Cord DOID:6556 disease_ontology hamartoma of the Spinal Cord true NCI2004_11_17:C6815 hamartoma of the Spinal Cord ethmoid sinus Schneiderian papilloma DOID:6559 NCI:C6836 Schneiderian papilloma of the ethmoid sinus UMLS_CUI:C1333476 disease_ontology NCI2004_11_17:C6836 Schneiderian papilloma of the ethmoid sinus adrenal adenoma An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. DOID:656 adenoma of the Adrenal gland disease_ontology NCI2004_11_17:C3906 adenoma of the Adrenal gland An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_adenoma ethmoid sinus inverted papilloma DOID:6562 Inverted papilloma of the ethmoid sinus NCI:C6843 UMLS_CUI:C1333474 disease_ontology Inverted papilloma of the ethmoid sinus NCI2004_11_17:C6843 metastatic testicular cancer DOID:6563 disease_ontology true neurilemmoma of the pleura DOID:6564 NCI:C5418 Schwannoma of Pleura UMLS_CUI:C1335435 disease_ontology NCI2004_11_17:C5418 Schwannoma of Pleura posterior uveal melanoma DOID:6566 DOID:6746 NCI:C9089 NCI:C9090 UMLS_CUI:C0278867 UMLS_CUI:C0278868 disease_ontology medium/large size posterior uveal melanoma small size posterior uveal melanoma uterine corpus myxoid leiomyosarcoma DOID:6567 NCI:C40175 UMLS_CUI:C1519861 disease_ontology micropapillomatosis labialis DOID:6569 NCI:C40290 UMLS_CUI:C1519982 disease_ontology adenoma A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. DOID:2655 DOID:657 MSH:D000236 NCI:C2855 NCI:C4196 SNOMEDCT_US_2015_03_01:189578007 SNOMEDCT_US_2015_03_01:189579004 SNOMEDCT_US_2015_03_01:32048006 SNOMEDCT_US_2015_03_01:443416007 SNOMEDCT_US_2015_03_01:79041005 UMLS_CUI:C0001430 UMLS_CUI:C0334389 acinar cell adenoma acinar cell adenoma (morphologic abnormality) acinic cell adenoma adenoma adenomas disease_ontology SNOMEDCT_2005_07_31:189578007 adenomas CSP2005:2000-1015 adenoma A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:http://coloncancer.about.com/od/glossaries/g/Adenoma.htm url:http://en.wikipedia.org/wiki/Adenoma NCI2004_11_17:C4196 acinic cell adenoma SNOMEDCT_2005_07_31:79041005 acinar cell adenoma (morphologic abnormality) non-invasive bladder urothelial carcinoma DOID:6571 disease_ontology recurrent adult brain tumor DOID:6573 disease_ontology relapsed tumor of adult brain true NCI2004_11_17:C7884 relapsed tumor of adult brain Borderline malignancy papillary mucinous cystadenoma DOID:6574 Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality) Papillary mucinous neoplasm of Low malignant Potential disease_ontology true Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality) SNOMEDCT_2005_07_31:128853002 NCI2004_11_17:C4186 Papillary mucinous neoplasm of Low malignant Potential childhood optic tract astrocytoma DOID:6575 NCI:C7534 UMLS_CUI:C1333014 disease_ontology pediatric visual pathway astrocytoma NCI2004_11_17:C7534 pediatric visual pathway astrocytoma childhood optic nerve glioma DOID:6576 MSH:D020339 NCI:C7535 UMLS_CUI:C0278653 disease_ontology glioma of the pediatric visual pathway NCI2004_11_17:C7535 glioma of the pediatric visual pathway ovarian dermoid cyst with sebaceous adenoma DOID:6577 disease_ontology true ovarian dermoid cyst with secondary sebaceous tumor DOID:6578 disease_ontology true chest wall bone cancer A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. DOID:6579 NCI:C6724 UMLS_CUI:C1334572 disease_ontology malignant bone neoplasm of chest wall malignant bone tumor of the Chest Wall NCI2004_11_17:C6724 malignant bone tumor of the Chest Wall A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. url:http://www.ncbi.nlm.nih.gov/pubmed/10451260 breast apocrine carcinoma DOID:6581 NCI:C5141 UMLS_CUI:C1332316 apocrine carcinoma of breast breast Apocrine carcinoma disease_ontology NCI2004_11_17:C5141 breast Apocrine carcinoma oncocytic breast carcinoma DOID:6585 NCI:C40366 UMLS_CUI:C1518574 disease_ontology invasive tubular breast carcinoma DOID:6587 Invasive tubular carcinoma of breast NCI:C9135 UMLS_CUI:C1328544 disease_ontology tubular carcinoma of breast Invasive tubular carcinoma of breast NCI2004_11_17:C9135 spondylitis DOID:6590 ICD10CM:M46 ICD9CM:720.8 ICD9CM:720.89 SNOMEDCT_US_2015_03_01:202651004 SNOMEDCT_US_2015_03_01:202653001 UMLS_CUI:C0029644 disease_ontology bladder colonic type adenocarcinoma DOID:6594 NCI:C39835 UMLS_CUI:C1511188 disease_ontology gastric tubular adenocarcinoma DOID:6595 NCI:C5473 UMLS_CUI:C1333791 disease_ontology tubular adenocarcinoma of stomach NCI2004_11_17:C5473 tubular adenocarcinoma of stomach muscle tissue disease DOID:66 disease_ontology adrenal cortex cancer Adrenal cortical tumors NOS (disorder) DOID:3949 DOID:660 ICD10CM:C74.0 MSH:D000306 NCI:C2858 NCI:C9327 SNOMEDCT_US_2015_03_01:127022002 SNOMEDCT_US_2015_03_01:18365006 SNOMEDCT_US_2015_03_01:189645007 SNOMEDCT_US_2015_03_01:189648009 SNOMEDCT_US_2015_03_01:2227007 SNOMEDCT_US_2015_03_01:363479004 SNOMEDCT_US_2015_03_01:371964008 SNOMEDCT_US_2015_03_01:93664009 UMLS_CUI:C0001618 UMLS_CUI:C0346402 disease_ontology malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex (disorder) Adrenal cortical tumors NOS (disorder) SNOMEDCT_2005_07_31:189648009 SNOMEDCT_2005_07_31:127022002 neoplasm of adrenal cortex (disorder) NCI2004_11_17:C9327 malignant Adrenocortical tumor SNOMEDCT_2005_07_31:93664009 malignant tumour of adrenal cortex recurrent malignant peritoneal mesothelioma DOID:6602 disease_ontology relapsed malignant Mesothelioma of Peritoneum true NCI2004_11_17:C8705 relapsed malignant Mesothelioma of Peritoneum Kummell's disease DOID:6603 ICD10CM:M48.3 ICD9CM:721.7 Kummell disease Kummell's spondylitis SNOMEDCT_US_2015_03_01:111232005 SNOMEDCT_US_2015_03_01:156628006 SNOMEDCT_US_2015_03_01:202682000 SNOMEDCT_US_2015_03_01:240218006 SNOMEDCT_US_2015_03_01:268075001 SNOMEDCT_US_2015_03_01:65753008 Traumatic spondylopathy UMLS_CUI:C0152088 disease_ontology ICD9CM_2006:721.7 Traumatic spondylopathy Kummell's spondylitis SNOMEDCT_2005_07_31:65753008 spondylosis and allied disorder DOID:12870 DOID:12871 DOID:6604 DOID:8595 Dorsal spondylosis without myelopathy Spondylogenic compression of cervical spinal cord Thoracic spondylosis without myelopathy Thoracic spondylosis without myelopathy (disorder) cervical spondylosis with myelopathy cervical spondylosis with myelopathy (disorder) cervical spondylosis without myelopathy cervical spondylosis without myelopathy (disorder) disease_ontology true SNOMEDCT_2005_07_31:65260001 cervical spondylosis with myelopathy (disorder) ICD9CM_2006:721.2 SNOMEDCT_2005_07_31:123797007 SNOMEDCT_2005_07_31:202665002 SNOMEDCT_2005_07_31:202669008 SNOMEDCT_2005_07_31:39386008 Thoracic spondylosis without myelopathy SNOMEDCT_2005_07_31:267971005 Thoracic spondylosis without myelopathy (disorder) SNOMEDCT_2005_07_31:267970006 cervical spondylosis without myelopathy (disorder) MTHICD9_2006:721.1 Spondylogenic compression of cervical spinal cord classic variant of chromophobe renal cell carcinoma DOID:6605 NCI:C27888 UMLS_CUI:C1333062 disease_ontology eosinophilic variant of chromophobe renal cell carcinoma DOID:6606 NCI:C27889 UMLS_CUI:C1333405 disease_ontology nervous system hibernoma DOID:6607 Hibernoma of nervous system disease_ontology Hibernoma of nervous system NCI2004_11_17:C6997 endobronchial leiomyoma DOID:6608 NCI:C5661 UMLS_CUI:C1333386 disease_ontology basaloid squamous cell carcinoma of the head and neck Basaloid squamous cell carcinoma of head and neck DOID:6609 disease_ontology true Basaloid squamous cell carcinoma of head and neck NCI2004_11_17:C37290 bone epithelioid hemangioma DOID:487 DOID:6610 NCI:C5396 NCI:C6477 UMLS_CUI:C1332575 UMLS_CUI:C1332578 bone hemangioma disease_ontology hemangioma of bone osseous epithelioid hemangioma osseous hemangioma NCI2004_11_17:C5396 osseous epithelioid hemangioma NCI2004_11_17:C6477 osseous hemangioma leukocyte adhesion deficiency Congenital leukocyte adherence deficiency (disorder) DOID:6612 NCI:C27874 OMIM mapping confirmed by DO. [SN]. OMIM:116920 OMIM:266265 OMIM:612840 SNOMEDCT_US_2015_03_01:77358003 UMLS_CUI:C0272187 disease_ontology Congenital leukocyte adherence deficiency (disorder) SNOMEDCT_2005_07_31:77358003 vaginal villous adenoma DOID:6613 NCI:C40259 UMLS_CUI:C1519936 disease_ontology unknown primary adenocarcinoma DOID:6618 adenocarcinoma of unknown primary disease_ontology true X-linked hyper IgM syndrome DOID:6620 MSH:D053306 NCI:C3990 NCI:C84783 SNOMEDCT_US_2015_03_01:82286005 UMLS_CUI:C0272236 disease_ontology hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome (disorder) SNOMEDCT_2005_07_31:82286005 hyperimmunoglobulin M syndrome (disorder) NCI2004_11_17:C3990 hyperimmunoglobulin M syndrome cerebral angioma DOID:6621 NCI:C5433 UMLS_CUI:C0877388 disease_ontology hemangioma of Cerebrum NCI2004_11_17:C5433 hemangioma of Cerebrum cervical adenoma malignum DOID:6627 NCI:C40206 UMLS_CUI:C1516423 disease_ontology malignant neoplasm of nipple DOID:6628 disease_ontology malignant tumor of Nipple true NCI2004_11_17:C5213 malignant tumor of Nipple nipple carcinoma A breast carcinoma that is located_in the nipple. DOID:6629 NCI:C28432 UMLS_CUI:C1334966 disease_ontology A breast carcinoma that is located_in the nipple. url:http://www.cancer.gov/dictionary?CdrID=45963 scrotal angioma DOID:663 NCI:C6387 UMLS_CUI:C1335936 disease_ontology hemangioma of scrotum NCI2004_11_17:C6387 hemangioma of scrotum ovarian dermoid cyst with secondary sarcoma DOID:6630 disease_ontology true ovarian dermoid cyst with leiomyosarcoma DOID:6631 disease_ontology true ovarian dermoid cyst with angiosarcoma DOID:6632 disease_ontology true adult central nervous system choriocarcinoma Choriocarcinoma of the adult central nervous system DOID:6634 NCI:C5793 UMLS_CUI:C1370505 disease_ontology Choriocarcinoma of the adult central nervous system NCI2004_11_17:C5793 pediatric CNS choriocarcinoma Choriocarcinoma of the pediatric central nervous system DOID:6639 NCI:C6206 UMLS_CUI:C1377604 disease_ontology Choriocarcinoma of the pediatric central nervous system NCI2004_11_17:C6206 angiokeratoma of Fordyce Angiokeratoma of Fordyce (disorder) DOID:664 Fordyce angiokeratoma Fordyce's spot Fordyce-type Angiokeratoma of scrotum NCI:C7752 SNOMEDCT_US_2015_03_01:238747004 SNOMEDCT_US_2015_03_01:254789007 SNOMEDCT_US_2015_03_01:6331000 UMLS_CUI:C0263639 disease_ontology Fordyce-type Angiokeratoma of scrotum NCI2004_11_17:C7752 Fordyce angiokeratoma SNOMEDCT_2005_07_31:254789007 Angiokeratoma of Fordyce (disorder) SNOMEDCT_2005_07_31:6331000 breast juvenile papillomatosis DOID:6641 Juvenile papillomatosis of the breast NCI:C9503 SNOMEDCT_US_2015_03_01:708518001 UMLS_CUI:C1334303 disease_ontology Juvenile papillomatosis of the breast NCI2004_11_17:C9503 Baastrup's syndrome Baastrup syndrome DOID:6643 ICD10CM:M48.2 ICD10CM:M48.20 ICD9CM:721.5 Kissing spine Kissing spine (disorder) SNOMEDCT_US_2015_03_01:202681007 SNOMEDCT_US_2015_03_01:82304009 UMLS_CUI:C0158248 disease_ontology ICD9CM_2006:721.5 Kissing spine Kissing spine (disorder) SNOMEDCT_2005_07_31:82304009 adult pineoblastoma DOID:6648 NCI:C8292 UMLS_CUI:C0281332 disease_ontology diffuse idiopathic skeletal hyperostosis A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. Ankylosing vertebral hyperostosis DISH DOID:6652 Disseminated idiopathic skeletal hyperostosis (disorder) Forestier disease ICD10CM:M48.1 ICD9CM:721.6 MSH:D004057 NCI:C84671 OMIM mapping confirmed by DO. [SN]. OMIM:106400 SNOMEDCT_US_2015_03_01:31487001 SNOMEDCT_US_2015_03_01:55815007 UMLS_CUI:C0020498 disease_ontology Ankylosing vertebral hyperostosis SNOMEDCT_2005_07_31:55815007 A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. url:http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740 Disseminated idiopathic skeletal hyperostosis (disorder) SNOMEDCT_2005_07_31:31487001 Ankylosing vertebral hyperostosis ICD9CM_2006:721.6 childhood central nervous system immature teratoma DOID:6654 NCI:C27405 UMLS_CUI:C1332954 disease_ontology breast large cell neuroendocrine carcinoma DOID:6657 NCI:C40356 UMLS_CUI:C1511316 disease_ontology pulmonary large cell neuroendocrine carcinoma DOID:5721 DOID:6658 NCI:C5672 NCI:C6875 SNOMEDCT_US_2015_03_01:128628002 UMLS_CUI:C1265996 UMLS_CUI:C1334363 disease_ontology cervical large cell neuroendocrine carcinoma DOID:6659 NCI:C40214 UMLS_CUI:C1516417 disease_ontology papillotubular adenocarcinoma DOID:6663 Tubulopapillary adenocarcinoma adenocarcinoma in Tubulovillous adenoma adenocarcinoma in tubulovillous adenoma disease_ontology true NCI2004_11_17:C4145 adenocarcinoma in Tubulovillous adenoma SNOMEDCT_2005_07_31:5658009 Tubulopapillary adenocarcinoma SNOMEDCT_2005_07_31:189583004 adenocarcinoma in tubulovillous adenoma regressing nevus DOID:6667 disease_ontology regressing naevus true SNOMEDCT_2005_07_31:78325005 regressing naevus SNOMEDCT_2005_07_31:307602007 regressing naevus menopausal syndrome DOID:6675 MENOPAUSE SYNDROME Menopausal syndrome (disorder) disease_ontology true MENOPAUSE SYNDROME MTH:479 Menopausal syndrome (disorder) SNOMEDCT_2005_07_31:123756000 Froelich's syndrome A syndrome characterized by a combination of obesity, retarded development of the sex glands, and changes in secondary sex characteristics that results from impaired function or disease of the pituitary gland and hypothalamus. Adiposogenital dystrophy (disorder) Babinski-Froelich Syndrome DOID:6676 Froehlich's syndrome Froelich syndrome Frohlich's syndrome ICD10CM:E23.6 MSH:D007027 NCI:C34625 SNOMEDCT_US_2015_03_01:62999006 UMLS_CUI:C0016724 disease_ontology Frohlich's syndrome NCI2004_11_17:C34625 Adiposogenital dystrophy (disorder) SNOMEDCT_2005_07_31:62999006 A syndrome characterized by a combination of obesity, retarded development of the sex glands, and changes in secondary sex characteristics that results from impaired function or disease of the pituitary gland and hypothalamus. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adiposogenital%20dystrophy diffuse infiltrative lymphocytosis syndrome A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. DOID:6677 NCI:C35699 No OMIM mapping, confirmed by DO. [LS]. SNOMEDCT:449784008 SNOMEDCT_US_2015_03_01:449784008 UMLS_CUI:C1333292 disease_ontology A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. url:http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/21295898 tooth and nail syndrome A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. DOID:6678 Hypoplastic enamel-onycholysis-hypohidrosis syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) MSH:C536736 NCI:C40553 OMIM mapping confirmed by DO. [LS]. OMIM:189500 SNOMEDCT_US_2015_03_01:239039003 SNOMEDCT_US_2015_03_01:400036004 SNOMEDCT_US_2015_03_01:68897000 Tooth and Nail syndrome UMLS_CUI:C0406735 Witkop's syndrome disease_ontology SNOMEDCT_2005_07_31:68897000 Witkop's syndrome SNOMEDCT_2005_07_31:239039003 Witkop's syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) SNOMEDCT_2005_07_31:400036004 NCI2004_11_17:C40553 Tooth and Nail syndrome A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome MTH:NOCODE myositis ossificans A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. DOID:668 MSH:D009221 Myisitis ossificans NCI:C3253 Ossification - muscle SNOMEDCT_US_2015_03_01:156720008 SNOMEDCT_US_2015_03_01:203030008 SNOMEDCT_US_2015_03_01:44551007 UMLS_CUI:C0027122 disease_ontology Ossification - muscle SNOMEDCT_2005_07_31:203030008 MTHICD9_2006:728.12 Myisitis ossificans A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. url:http://en.wikipedia.org/wiki/Myositis_ossificans url:http://www.merriam-webster.com/medlineplus/myositis Capgras syndrome A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. Capgras delusion theory DOID:6680 MSH:D002194 NCI:C34446 SNOMEDCT_US_2015_03_01:44906001 UMLS_CUI:C0006895 disease_ontology A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. url:http://en.wikipedia.org/wiki/Capgras_delusion diffuse leiomyomatosis syndrome DOID:6681 No OMIM mapping, confirmed by DO. [LS]. disease_ontology true spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. DOID:6682 ICD10CM:M43.1 ICD10CM:M43.10 MSH:D013168 NCI:C35033 OMIM:184200 SNOMEDCT_US_2015_03_01:157003009 SNOMEDCT_US_2015_03_01:268349005 SNOMEDCT_US_2015_03_01:274152003 UMLS_CUI:C0038016 disease_ontology A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. url:http://en.wikipedia.org/wiki/Spondylolisthesis url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053 url:http://www.medicinenet.com/spondylolisthesis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm Aarskog-Scott syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. Aarskog syndrome Aarskog syndrome (disorder) Aarskog syndrome [dup] (disorder) DOID:6683 FACIOGENITAL DYSPLASIA Greig's syndrome ICD10CM:Q87.1 MSH:C535331 OMIM mapping confirmed by DO. [SN]. OMIM:100050 OMIM:305400 SNOMEDCT_US_2015_03_01:14921002 SNOMEDCT_US_2015_03_01:205809002 UMLS_CUI:C0175701 disease_ontology CSP2005:0725-9662 Greig's syndrome Aarskog syndrome (disorder) SNOMEDCT_2005_07_31:14921002 Aarskog syndrome [dup] (disorder) SNOMEDCT_2005_07_31:205809002 Greig's syndrome NCI2004_11_17:C35255 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. url:http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm Achard syndrome A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. DOID:6686 MSH:C536012 NCI:C35809 OMIM mapping confirmed by DO. [SN]. OMIM:100700 UMLS_CUI:C1332135 disease_ontology A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. url:http://en.wikipedia.org/wiki/Achard_syndrome Achenbach syndrome DOID:6687 NCI:C35467 Paroxysmal hematoma of the finger (disorder) SNOMEDCT_US_2015_03_01:238824006 UMLS_CUI:C0473563 disease_ontology Paroxysmal hematoma of the finger (disorder) SNOMEDCT_2005_07_31:238824006 autoimmune lymphoproliferative syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. ALPS (autoimmune lymphoproliferative syndrome) CSP:1560-5548 Canale-Smith syndrome DOID:6688 ICD10CM:D89.82 ICD9CM:279.41 MSH:D056735 NCI:C37864 OMIM:601859 OMIM:603909 OMIM:607271 OMIM:614470 ORDO:3261 SNOMEDCT_US_2015_03_01:702444009 UMLS_CUI:C1328840 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology ALPS (autoimmune lymphoproliferative syndrome) CSP2005:0427-1178 A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. url:http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome adherence syndrome DOID:6689 Fat adherence syndrome of extraocular muscle (disorder) disease_ontology true Fat adherence syndrome of extraocular muscle (disorder) SNOMEDCT_2005_07_31:416236009 acroparesthesia syndrome DOID:6690 disease_ontology true Aagenaes syndrome A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. Cholestasis-edema syndrome, Norwegian type (disorder) DOID:6691 MSH:C535330 NCI:C35709 OMIM mapping confirmed by DO. [SN]. OMIM:214900 ORDO:1414 SNOMEDCT_US_2015_03_01:28724005 UMLS_CUI:C0268314 disease_ontology Cholestasis-edema syndrome, Norwegian type (disorder) SNOMEDCT_2005_07_31:28724005 A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. url:http://en.wikipedia.org/wiki/Aagenaes_syndrome Barre-Lieou syndrome A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. Cervicocranial syndrome Cervicocranial syndrome (disorder) DOID:6692 ICD10CM:M53.0 MSH:D055010 NCI:C34411 No OMIM mapping confirmed by DO. [SN]. Posterior cervical sympathetic syndrome SNOMEDCT_US_2015_03_01:17300000 UMLS_CUI:C0376378 disease_ontology Cervicocranial syndrome (disorder) SNOMEDCT_2005_07_31:17300000 MTHICD9_2006:723.2 Posterior cervical sympathetic syndrome Cervicocranial syndrome NCI2004_11_17:C34411 Cervicocranial syndrome ICD9CM_2006:723.2 A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/ testicular monophasic choriocarcinoma DOID:6693 NCI:C39935 UMLS_CUI:C1515290 disease_ontology synchronous multifocal osteogenic sarcoma DOID:6696 NCI:C6471 UMLS_CUI:C1336544 disease_ontology asynchronous multifocal osteogenic sarcoma DOID:6697 NCI:C6472 UMLS_CUI:C1332342 disease_ontology neural tissue disease DOID:67 disease_ontology nervous tissue disease true amphetamine abuse A substance abuse that involves the recurring use of amphetamines despite negative consequences. DOID:12067 DOID:14436 DOID:669 DOID:670 ICD9CM:305.7 UMLS_CUI:C0154536 disease_ontology A substance abuse that involves the recurring use of amphetamines despite negative consequences. url:http://en.wikipedia.org/wiki/Amphetamine_Abuse gastric fundus carcinoma DOID:6700 NCI:C8398 SNOMEDCT_US_2015_03_01:254555008 UMLS_CUI:C0345799 cancer of Fundus of stomach carcinoma of fundus of stomach (disorder) disease_ontology NCI2004_11_17:C8398 cancer of Fundus of stomach SNOMEDCT_2005_07_31:254555008 carcinoma of fundus of stomach (disorder) recurrent stomach cancer DOID:6702 disease_ontology recurrent carcinoma of the stomach recurrent gastric cancer true MTH:NOCODE recurrent gastric cancer NCI2004_11_17:C9237 recurrent carcinoma of the stomach gastric pylorus carcinoma DOID:6703 NCI:C6795 UMLS_CUI:C1333787 carcinoma of Pylorus of stomach disease_ontology NCI2004_11_17:C6795 carcinoma of Pylorus of stomach anaplastic gastric carcinoma DOID:6704 Undifferentiated carcinoma of stomach disease_ontology true NCI2004_11_17:C5476 Undifferentiated carcinoma of stomach gastric body carcinoma DOID:6705 NCI:C8399 SNOMEDCT_US_2015_03_01:254557000 UMLS_CUI:C0345804 cancer of body of stomach carcinoma of body of stomach (disorder) disease_ontology NCI2004_11_17:C8399 cancer of body of stomach SNOMEDCT_2005_07_31:254557000 carcinoma of body of stomach (disorder) tubular variant testicular seminoma DOID:6706 NCI:C40959 UMLS_CUI:C1515294 disease_ontology malignant triton tumor DOID:6707 MPNST with Rhabdomyosarcoma MPNST with rhabdomyoblastic differentiation NCI:C4335 SNOMEDCT_US_2015_03_01:189951004 SNOMEDCT_US_2015_03_01:354002 SNOMEDCT_US_2015_03_01:404040002 UMLS_CUI:C0334616 disease_ontology malignant Triton tumor (disorder) malignant Triton tumour malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma SNOMEDCT_2005_07_31:189951004 malignant Triton tumour MPNST with Rhabdomyosarcoma NCI2004_11_17:C4335 SNOMEDCT_2005_07_31:404040002 malignant Triton tumor (disorder) MPNST with rhabdomyoblastic differentiation SNOMEDCT_2005_07_31:354002 recurrent ovarian epithelial cancer DOID:6708 disease_ontology relapsed carcinoma of Ovary true NCI2004_11_17:C7833 relapsed carcinoma of Ovary metastatic anal cancer DOID:6710 disease_ontology secondary carcinoma from the anus true NCI2004_11_17:C5612 secondary carcinoma from the anus anterior spinal artery syndrome Anterior spinal artery occlusion syndrome (disorder) DOID:6712 MSH:D020759 SNOMEDCT_US_2015_03_01:2972007 UMLS_CUI:C0221069 disease_ontology Anterior spinal artery occlusion syndrome (disorder) SNOMEDCT_2005_07_31:2972007 cerebrovascular disease An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. CVA (cerebral vascular accident) Cerebrovascular accident (disorder) DOID:12214 DOID:3455 DOID:6713 DOID:8231 EFO:0000712 ICD10CM:I60-I69 ICD10CM:I63.9 ICD10CM:I67.9 ICD9CM:430-438.99 ICD9CM:437.9 MSH:D002561 MSH:D020521 NCI:C2938 NCI:C3390 OMIM mapping confirmed by DO. [SN]. OMIM:601367 SNOMEDCT_US_2015_03_01:155388006 SNOMEDCT_US_2015_03_01:155405006 SNOMEDCT_US_2015_03_01:155412002 SNOMEDCT_US_2015_03_01:195208004 SNOMEDCT_US_2015_03_01:195249004 SNOMEDCT_US_2015_03_01:195595007 SNOMEDCT_US_2015_03_01:230690007 SNOMEDCT_US_2015_03_01:266312006 SNOMEDCT_US_2015_03_01:266315008 SNOMEDCT_US_2015_03_01:270883006 SNOMEDCT_US_2015_03_01:313267000 SNOMEDCT_US_2015_03_01:62914000 SNOMEDCT_US_2015_03_01:82797006 UMLS_CUI:C0007820 UMLS_CUI:C0038454 cerebrovascular accident cerebrovascular disorder disease_ontology stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. url:http://en.wikipedia.org/wiki/Cerebrovascular_disease url:http://www.ncbi.nlm.nih.gov/books/NBK378/ CSP2005:0617-5539 CVA (cerebral vascular accident) Cerebrovascular accident (disorder) SNOMEDCT_2005_07_31:230690007 circumscribed storiform collagenoma Circumscribed Storiform Collagenoma Circumscribed storiform collagenoma (disorder) DOID:6714 disease_ontology true Circumscribed storiform collagenoma (disorder) SNOMEDCT_2005_07_31:239137003 Circumscribed Storiform Collagenoma NCI2004_11_17:C4706 collagen nevus of skin Collagen hamartoma (morphologic abnormality) Collagen naevus Collagen nevus Collagen nevus of skin (disorder) DOID:6715 disease_ontology true Collagen nevus of skin (disorder) SNOMEDCT_2005_07_31:399926001 Collagen hamartoma (morphologic abnormality) SNOMEDCT_2005_07_31:44133001 Collagen nevus NCI2004_11_17:C8371 Collagen naevus SNOMEDCT_2005_07_31:19291000 eruptive collagenoma DOID:6716 Eruptive collagenoma (disorder) disease_ontology true Eruptive collagenoma (disorder) SNOMEDCT_2005_07_31:239138008 spleen cancer A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. DOID:671 DOID:672 ICD10CM:C26.1 MSH:D013160 NCI:C3383 NCI:C3539 SNOMEDCT_US_2015_03_01:127230005 SNOMEDCT_US_2015_03_01:187823003 SNOMEDCT_US_2015_03_01:254616004 SNOMEDCT_US_2015_03_01:363499005 SNOMEDCT_US_2015_03_01:94071006 Splenic neoplasm UMLS_CUI:C0037999 UMLS_CUI:C0153470 disease_ontology malignant Splenic tumor malignant tumour of spleen spleen neoplasm NCI2004_11_17:C3539 malignant Splenic tumor SNOMEDCT_2005_07_31:254616004 malignant tumour of spleen CSP2005:2004-6589 spleen neoplasm NCI2004_11_17:C3383 Splenic neoplasm A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. url:http://www.wrongdiagnosis.com/s/spleen_cancer/intro.htm littre gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. DOID:6721 NCI:C39865 UMLS_CUI:C1516285 disease_ontology A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. url:http://en.wikipedia.org/wiki/Urethral_gland malignant type AB thymoma DOID:6723 NCI:C6886 SNOMEDCT_US_2015_03_01:128710005 Thymoma, mixed type, malignant UMLS_CUI:C1266093 disease_ontology SNOMEDCT_2005_07_31:128710005 Thymoma, mixed type, malignant spinal stenosis A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. DOID:10097 DOID:12235 DOID:6725 ICD10CM:M48.0 ICD10CM:M48.00 ICD10CM:M48.02 ICD10CM:M48.06 ICD9CM:723.0 ICD9CM:724.00 MSH:D013130 SNOMEDCT_US_2015_03_01:156640006 SNOMEDCT_US_2015_03_01:156646000 SNOMEDCT_US_2015_03_01:18347007 SNOMEDCT_US_2015_03_01:202780000 SNOMEDCT_US_2015_03_01:202781001 SNOMEDCT_US_2015_03_01:202791007 SNOMEDCT_US_2015_03_01:268082002 SNOMEDCT_US_2015_03_01:76107001 SNOMEDCT_US_2015_03_01:83561009 Spinal stenosis of lumbar region UMLS_CUI:C0037944 UMLS_CUI:C0158280 UMLS_CUI:C0158288 cervical spinal stenosis disease_ontology lumbar spinal stenosis A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. url:http://en.wikipedia.org/wiki/Spinal_stenosis url:http://www.mayoclinic.com/health/spinal-stenosis/DS00515 url:http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm url:http://www.spinalstenosis.org/ ICD9CM_2006:724.02 Spinal stenosis of lumbar region fibrillary astrocytoma An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. DOID:6726 Fibrillary Astrocytic tumors MSH:D001254 NCI:C4322 SNOMEDCT_US_2015_03_01:253063006 SNOMEDCT_US_2015_03_01:71314006 UMLS_CUI:C0334582 diffuse astrocytoma disease_ontology An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. url:http://en.wikipedia.org/wiki/Fibrillary_astrocytoma url:http://www.braintumour.ca/4877/diffuse-astrocytoma-/-fibrillary-astrocytoma url:http://www.cancer.gov/dictionary?CdrID=45602 Fibrillary Astrocytic tumors NCI2004_11_17:C4322 colon small cell carcinoma Colonic small cell carcinoma DOID:6727 NCI:C6761 UMLS_CUI:C1333099 disease_ontology Colonic small cell carcinoma NCI2004_11_17:C6761 recurrent pediatric optic nerve astrocytoma DOID:6728 disease_ontology true recurrent pediatric optic nerve glioma DOID:6729 disease_ontology true recurrent childhood optic tract astrocytoma DOID:6730 disease_ontology recurrent pediatric visual pathway astrocytoma true NCI2004_11_17:C7530 recurrent pediatric visual pathway astrocytoma recurrent glioma of childhood visual pathway DOID:6731 disease_ontology relapsed glioma of the pediatric visual pathway true NCI2004_11_17:C7529 relapsed glioma of the pediatric visual pathway intrahepatic bile duct cystadenoma Cystadenoma of the Intrahepatic bile duct DOID:6733 NCI:C96835 UMLS_CUI:C1334257 disease_ontology Cystadenoma of the Intrahepatic bile duct NCI2004_11_17:C7127 schwannoma of jugular foramen DOID:6735 NCI:C5323 Neurilemmoma of Jugular Foramen UMLS_CUI:C1334300 disease_ontology NCI2004_11_17:C5323 Neurilemmoma of Jugular Foramen cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. DOID:674 ICD10CM:Q35 ICD10CM:Q35.9 ICD9CM:749.0 ICD9CM:749.00 MSH:D002972 NCI:C87069 OMIM mapping confirmed by DO. [SN]. OMIM:119540 OMIM:119570 ORDO:99772 Palatoschisis SNOMEDCT_US_2015_03_01:156940009 SNOMEDCT_US_2015_03_01:204593009 SNOMEDCT_US_2015_03_01:204605001 SNOMEDCT_US_2015_03_01:253986002 SNOMEDCT_US_2015_03_01:268196005 SNOMEDCT_US_2015_03_01:87979003 UMLS_CUI:C0008925 Uranostaphyloschisis (disorder) cleft velum disease_ontology An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. url:http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate url:http://ghr.nlm.nih.gov/glossary=cleftpalate SNOMEDCT_2005_07_31:63567004 Uranostaphyloschisis (disorder) Palatoschisis SNOMEDCT_2005_07_31:253986002 cervix small cell carcinoma DOID:6740 NCI:C7982 UMLS_CUI:C0279674 disease_ontology small cell carcinoma of the Cervix Uteri small cell carcinoma of the cervix NCI2004_11_17:C7982 small cell carcinoma of the Cervix Uteri bilateral breast cancer A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. Bilateral breast carcinoma DOID:6741 NCI:C8287 UMLS_CUI:C0281267 disease_ontology A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. url:http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html Bilateral breast carcinoma NCI2004_11_17:C8287 synchronous bilateral breast carcinoma DOID:6742 NCI:C40370 UMLS_CUI:C1515107 disease_ontology malignant fibrous histiocytoma recurrent DOID:6750 disease_ontology relapsed malignant fibrous Histiocytoma true NCI2004_11_17:C8795 relapsed malignant fibrous Histiocytoma internal auditory canal lipoma DOID:6752 Lipoma of the Internal Auditory canal NCI:C5452 UMLS_CUI:C1334226 disease_ontology Lipoma of the Internal Auditory canal NCI2004_11_17:C5452 amyloid tumor Amyloid neoplasm Amyloid tumor (morphologic abnormality) DOID:6755 SNOMEDCT_US_2015_03_01:37279009 UMLS_CUI:C0333572 disease_ontology Amyloid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:37279009 Amyloid neoplasm NCI2004_11_17:C8323 chest wall lymphoma A thoracic cancer that is located_in the chest wall. DOID:3724 DOID:6758 Lymphoma of the Chest Wall NCI:C4580 NCI:C6712 SNOMEDCT_US_2015_03_01:188363005 SNOMEDCT_US_2015_03_01:93754006 UMLS_CUI:C0346948 UMLS_CUI:C1332933 chest wall cancer disease_ontology lymphoma of chest wall malignant neoplasm of chest wall malignant neoplasm of chest wall NOS (disorder) malignant tumor of Chest Wall SNOMEDCT_2005_07_31:188363005 malignant neoplasm of chest wall NOS (disorder) A thoracic cancer that is located_in the chest wall. url:http://en.wikipedia.org/wiki/Chest_wall SNOMEDCT_2005_07_31:93754006 malignant neoplasm of chest wall Lymphoma of the Chest Wall NCI2004_11_17:C6712 NCI2004_11_17:C4580 malignant tumor of Chest Wall bone lymphoma A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. DOID:6759 Lymphoma of the bone NCI:C6620 UMLS_CUI:C1332582 disease_ontology lymphoma of bone A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. url:http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm url:http://www.lymphomainfo.net/nhl/types/bone.html Lymphoma of the bone NCI2004_11_17:C6620 juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. DOID:10129 DOID:1264 DOID:675 DOID:676 ICD10CM:M08.4 ICD10CM:M08.40 ICD9CM:714.3 ICD9CM:714.31 ICD9CM:714.32 ICD9CM:714.33 NCI:C26979 OMIM:604302 ORDO:92 Pauciarticular onset juvenile chronic arthritis SNOMEDCT_US_2015_03_01:201798003 SNOMEDCT_US_2015_03_01:201799006 SNOMEDCT_US_2015_03_01:201803007 SNOMEDCT_US_2015_03_01:201809006 SNOMEDCT_US_2015_03_01:74391003 SNOMEDCT_US_2015_03_01:7441009 SNOMEDCT_US_2015_03_01:75822003 SNOMEDCT_US_2015_03_01:83793004 UMLS_CUI:C0157916 UMLS_CUI:C0157917 UMLS_CUI:C0157918 UMLS_CUI:C0409667 Xref MGI. acute juvenile rheumatoid arthritis disease_ontology juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. url:http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018 url:http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm url:http://www.umm.edu/ency/article/000451.htm Pauciarticular onset juvenile chronic arthritis SNOMEDCT_2005_07_31:201809006 lung lymphoma DOID:6760 UMLS_CUI:C0519063 disease_ontology lymphoma of lung pulmonary Lymphoma NCI2004_11_17:C4794 pulmonary Lymphoma skin lymphoma Cutaneous lymphoma (disorder) Cutaneous lymphoma, NOS DOID:6761 disease_ontology true Cutaneous lymphoma, NOS SNOMEDCT_2005_07_31:28054005 Cutaneous lymphoma (disorder) SNOMEDCT_2005_07_31:255099004 sternum lymphoma DOID:6762 Lymphoma of Sternum NCI:C6716 UMLS_CUI:C1336504 disease_ontology lymphoma of the sternum Lymphoma of Sternum NCI2004_11_17:C6716 peripheral neuroblastoma DOID:6764 disease_ontology peripheral neuroblastoma true SNOMEDCT_2005_07_31:254764001 peripheral neuroblastoma polyembryoma of the ovary DOID:6774 NCI:C39990 UMLS_CUI:C1514199 disease_ontology breast myoepithelial carcinoma DOID:6776 NCI:C40395 UMLS_CUI:C1518167 disease_ontology villoglandular endometrial endometrioid adenocarcinoma DOID:6777 NCI:C27846 UMLS_CUI:C1336962 disease_ontology renal pelvis and ureter localized transitional cell cancer DOID:6778 disease_ontology localized Urothelial carcinoma of the renal Pelvis and Ureter true NCI2004_11_17:C8167 localized Urothelial carcinoma of the renal Pelvis and Ureter progressive supranuclear palsy A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. DOID:678 EFOpat_id:846 ICD10CM:G23.1 MSH:D013494 NCI:C85028 OMIM:601104 OMIM:609454 OMIM:610898 ORDO:683 SNOMEDCT_US_2015_03_01:192975003 SNOMEDCT_US_2015_03_01:192976002 SNOMEDCT_US_2015_03_01:28978003 Steele-Richardson-Olszewski syndrome UMLS_CUI:C0038868 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology progressive supranuclear ophthalmoplegia MTHICD9_2006:333.0 progressive supranuclear ophthalmoplegia A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. url:http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy url:http://www.ninds.nih.gov/disorders/psp/psp.htm pediatric desmoplastic small round cell tumor DOID:6784 disease_ontology true desmoplastic small round cell tumor DOID:6785 desmoplastic small round cell tumor (morphologic abnormality) desmoplastic small round-cell neoplasm disease_ontology true SNOMEDCT_2005_07_31:128735004 desmoplastic small round cell tumor (morphologic abnormality) NCI2004_11_17:C8300 desmoplastic small round-cell neoplasm childhood botryoid rhabdomyosarcoma DOID:6786 NCI:C35574 UMLS_CUI:C1332944 childhood sarcoma Botryoides disease_ontology NCI2004_11_17:C35574 childhood sarcoma Botryoides childhood vagina botryoid rhabdomyosarcoma DOID:6787 NCI:C35556 UMLS_CUI:C1332945 disease_ontology vaginal childhood sarcoma Botryoides NCI2004_11_17:C35556 vaginal childhood sarcoma Botryoides vagina botryoid rhabdomyosarcoma DOID:6788 NCI:C40268 UMLS_CUI:C1511275 disease_ontology vulvar childhood botryoid-type embryonal rhabdomyosarcoma DOID:6789 NCI:C36098 UMLS_CUI:C1332946 childhood sarcoma Botryoides of the Vulva disease_ontology NCI2004_11_17:C36098 childhood sarcoma Botryoides of the Vulva basal ganglia disease CSP:2057-3403 DOID:679 MSH:D001480 SNOMEDCT_US_2015_03_01:70835005 UMLS_CUI:C0004782 disease_ontology disorder of basal ganglia (disorder) SNOMEDCT_2005_07_31:70835005 disorder of basal ganglia (disorder) mixed endodermal sinus neoplasm and teratoma with seminoma of the testis DOID:6792 disease_ontology mixed Yolk Sac tumor and teratoma with Seminoma of testis true NCI2004_11_17:C8003 mixed Yolk Sac tumor and teratoma with Seminoma of testis lymphomyeloid tissue disease DOID:68 disease_ontology true tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. DOID:680 MSH:D024801 UMLS_CUI:C0949664 disease_ontology A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. url:http://en.wikipedia.org/wiki/Tauopathy recurrent hematologic cancer A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. DOID:6801 disease_ontology recurrent Hematologic Malignancy true NCI2004_11_17:C27358 recurrent Hematologic Malignancy A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp relapsed precursor T lymphoblastic lymphoma/leukemia DOID:6802 disease_ontology true recurrent adult acute lymphocytic leukemia A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. DOID:6803 disease_ontology relapsed adult acute lymphoid Leukemia true NCI2004_11_17:C7883 relapsed adult acute lymphoid Leukemia A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. url:http://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx colon Kaposi sarcoma A sarcoma of colon that is located_in the colon. Colonic Kaposi's sarcoma DOID:6804 NCI:C5516 UMLS_CUI:C1333091 disease_ontology A sarcoma of colon that is located_in the colon. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp Colonic Kaposi's sarcoma NCI2004_11_17:C5516 hamartoma Moniliformis DOID:6807 Moniliform hamartoma (disorder) disease_ontology true Moniliform hamartoma (disorder) SNOMEDCT_2005_07_31:239128003 Basaloid follicular hamartoma Basal cell nevus with Comedones DOID:6808 disease_ontology true Basal cell nevus with Comedones NCI2004_11_17:C4749 vaginal tubular adenoma DOID:6809 NCI:C40257 UMLS_CUI:C1519932 disease_ontology progressive bulbar palsy DOID:681 ICD10CM:G12.22 ICD9CM:335.22 MSH:D010244 NCI:C85026 SNOMEDCT_US_2015_03_01:230547002 SNOMEDCT_US_2015_03_01:54304004 UMLS_CUI:C0030442 disease_ontology juvenile pilocytic astrocytoma DOID:6811 MSH:D001254 NCI:C27081 UMLS_CUI:C0280783 disease_ontology childhood pilocytic astrocytoma DOID:6812 NCI:C4048 UMLS_CUI:C1332995 disease_ontology pediatric Pilocytic astrocytoma NCI2004_11_17:C4048 pediatric Pilocytic astrocytoma compartment syndrome Compartment syndrome Compartment syndrome (disorder) Compartmental syndrome, NOS DOID:682 ICD10CM:T79.A0 ICD9CM:958.90 MSH:D003161 SNOMEDCT_US_2015_03_01:111245009 SNOMEDCT_US_2015_03_01:212379008 SNOMEDCT_US_2015_03_01:45781009 UMLS_CUI:C0009492 disease_ontology Compartmental syndrome, NOS SNOMEDCT_2005_07_31:45781009 Compartment syndrome (disorder) SNOMEDCT_2005_07_31:111245009 Compartment syndrome SNOMEDCT_2005_07_31:212379008 anaplastic childhood astrocytoma of brain DOID:6820 disease_ontology grade III pediatric astrocytoma of the brain true NCI2004_11_17:C6252 grade III pediatric astrocytoma of the brain pancreatoblastoma DOID:6823 MSH:C537162 NCI:C4265 Pancreatoblastoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:189814006 SNOMEDCT_US_2015_03_01:53618008 UMLS_CUI:C0334489 disease_ontology Pancreatoblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:53618008 recurrent cancer of pancreas DOID:6826 disease_ontology relapsed pancreatic carcinoma true NCI2004_11_17:C7626 relapsed pancreatic carcinoma pancreatic solid pseudopapillary carcinoma A pancreatic carcinoma that is characterized by its papillary architecture. DOID:6827 NCI:C5728 UMLS_CUI:C1336029 disease_ontology pancreatic solid Pseudopapillary carcinoma A pancreatic carcinoma that is characterized by its papillary architecture. url:http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour url:http://www.ncbi.nlm.nih.gov/pubmed/19268906 NCI2004_11_17:C5728 pancreatic solid Pseudopapillary carcinoma non-resectable pancreatic carcinoma DOID:6828 Unresectable pancreatic carcinoma disease_ontology true NCI2004_11_17:C5018 Unresectable pancreatic carcinoma motor neuritis DOID:683 MSH:D009443 NCI:C3500 SNOMEDCT_US_2015_03_01:95663000 UMLS_CUI:C0235025 disease_ontology peripheral motor Neuropathy peripheral motor neuropathy (disorder) SNOMEDCT_2005_07_31:95663000 peripheral motor neuropathy (disorder) NCI2004_11_17:C3500 peripheral motor Neuropathy resectable pancreas carcinoma DOID:6830 disease_ontology pancreatic carcinoma, Resectable true NCI2004_11_17:C5099 pancreatic carcinoma, Resectable recurrent anal cancer DOID:6835 disease_ontology recurrent anal canal cancer true NCI2004_11_17:C7793 recurrent anal canal cancer rete ovarii adenoma DOID:6837 NCI:C40018 SNOMEDCT_US_2015_03_01:703654008 UMLS_CUI:C1514905 disease_ontology rete ovarii cystadenofibroma DOID:6838 NCI:C40020 UMLS_CUI:C1514906 disease_ontology breast intraductal proliferative lesion DOID:6839 Intraductal Proliferative Lesion NCI:C27942 UMLS_CUI:C1334631 disease_ontology Intraductal Proliferative Lesion NCI2004_11_17:C27942 hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. DOID:5005 DOID:684 EFO:0000182 HCC Hepatoma NCI2009_04D:C7711 NCI2009_04D:C7956 NCI:C7711 NCI:C7956 OMIM mapping confirmed by DO. [SN]. OMIM:114550 UMLS_CUI:C0279607 adult Hepatoma adult primary hepatocellular carcinoma disease_ontology Hepatoma SNOMEDCT_2005_07_31:126851005 NCI2004_11_17:C7956 adult Hepatoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. url:http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma url:http://en.wikipedia.org/wiki/Hepatocellular_carcinoma url:http://www.omim.org/entry/114550 HCC NCI2004_11_17:C3099 glandular cell intraepithelial neoplasm DOID:6840 disease_ontology true flat ductal epithelial atypia DOID:6841 Flat ductal epithelial Atypia NCI:C36086 UMLS_CUI:C1333620 disease_ontology Flat ductal epithelial Atypia NCI2004_11_17:C36086 kidney pelvis sarcomatoid transitional cell carcinoma DOID:6844 NCI:C6186 UMLS_CUI:C1335752 disease_ontology sarcomatoid transitional cell carcinoma of renal Pelvis NCI2004_11_17:C6186 sarcomatoid transitional cell carcinoma of renal Pelvis infiltrating ureter transitional cell carcinoma DOID:6845 NCI:C39879 UMLS_CUI:C1512750 disease_ontology familial melanoma DOID:6846 NCI:C8498 UMLS_CUI:C1512419 disease_ontology adult botryoid rhabdomyosarcoma DOID:6847 NCI:C36099 UMLS_CUI:C1332185 disease_ontology adult vagina botryoid rhabdomyosarcoma DOID:6848 NCI:C40267 UMLS_CUI:C1515893 disease_ontology testicular intratubular germ cell neoplasia of the unclassified type A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. DOID:6849 ITGCNU disease_ontology testicular Intraepithelial Neoplasia true NCI2004_11_17:C40345 testicular Intraepithelial Neoplasia A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. URL:http://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result hamartoma of Eccrine Sweat gland DOID:6850 disease_ontology hamartoma of the Eccrine Sweat gland true NCI2004_11_17:C5564 hamartoma of the Eccrine Sweat gland Linear Eccrine nevus with Comedones DOID:6851 Porokeratotic Eccrine duct and Hair Follicle nevus Porokeratotic eccrine ostial and dermal duct nevus (disorder) disease_ontology true Porokeratotic eccrine ostial and dermal duct nevus (disorder) SNOMEDCT_2005_07_31:239118007 NCI2004_11_17:C4740 Porokeratotic Eccrine duct and Hair Follicle nevus eccrine angiomatous hamartoma DOID:6852 Eccrine Angiomatous nevus Eccrine angiomatous hamartoma (disorder) disease_ontology true Eccrine Angiomatous nevus NCI2004_11_17:C4703 Eccrine angiomatous hamartoma (disorder) SNOMEDCT_2005_07_31:239115005 ethmoid sinus ectopic meningioma DOID:6854 NCI:C5309 UMLS_CUI:C1333475 disease_ontology primary Ectopic meningioma of ethmoidal sinus NCI2004_11_17:C5309 primary Ectopic meningioma of ethmoidal sinus pineal region teratoma DOID:6856 NCI:C6753 UMLS_CUI:C1335419 disease_ontology teratoma of Pineal Area NCI2004_11_17:C6753 teratoma of Pineal Area pineal region mature teratoma DOID:6857 Mature teratoma of the Pineal Area NCI:C6754 UMLS_CUI:C1335417 disease_ontology Mature teratoma of the Pineal Area NCI2004_11_17:C6754 pineal region immature teratoma Atypical Pineal teratoma DOID:6858 NCI:C6755 UMLS_CUI:C1335416 disease_ontology Atypical Pineal teratoma NCI2004_11_17:C6755 liver carcinoma A liver cancer that has_material_basis_in epithelial cells. DOID:686 Liver and Intrahepatic bile duct carcinoma NCI:C7927 UMLS_CUI:C0279000 disease_ontology A liver cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Liver_cancer Liver and Intrahepatic bile duct carcinoma NCI2004_11_17:C7927 Endobronchial hamartoma DOID:6860 disease_ontology true recurrent cancer of gallbladder DOID:6861 disease_ontology relapsed cancer of the gallbladder true NCI2004_11_17:C4008 relapsed cancer of the gallbladder oxyphilic endometrial endometrioid adenocarcinoma DOID:6865 NCI:C27849 UMLS_CUI:C1518768 disease_ontology mediastinal gray zone lymphoma DOID:6867 NCI:C37870 UMLS_CUI:C1334657 disease_ontology mediastinal malignant lymphoma DOID:6868 Lymphoma of mediastinum NCI:C6633 UMLS_CUI:C1334665 disease_ontology Lymphoma of mediastinum NCI2004_11_17:C6633 parasagittal meningioma DOID:6869 MSH:D008579 NCI:C4960 UMLS_CUI:C0751304 disease_ontology hepatoblastoma DOID:687 HBL ICD10CM:C22.2 MSH:D018197 NCI:C3728 SNOMEDCT_US_2015_03_01:109843000 SNOMEDCT_US_2015_03_01:45024009 UMLS_CUI:C0206624 disease_ontology HBL NCI2004_11_17:C3728 cockade nevus Cockade nevus (disorder) DOID:6870 disease_ontology true Cockade nevus (disorder) SNOMEDCT_2005_07_31:254804007 spinal cord neuroblastoma DOID:6871 NCI:C5155 UMLS_CUI:C1336046 disease_ontology neuroblastoma of the Spinal Cord NCI2004_11_17:C5155 neuroblastoma of the Spinal Cord spinal cord primitive neuroectodermal neoplasm DOID:6872 NCI:C5406 Spinal Cord PNET UMLS_CUI:C1336048 disease_ontology NCI2004_11_17:C5406 Spinal Cord PNET skin tag DOID:6873 Fibroepithelial polyp Fibroepithelial polyp (morphologic abnormality) Fibroepithelial polyp of skin NCI:C3337 NCI:C3374 SNOMEDCT_US_2015_03_01:156440000 SNOMEDCT_US_2015_03_01:189051001 SNOMEDCT_US_2015_03_01:201091002 SNOMEDCT_US_2015_03_01:255183007 SNOMEDCT_US_2015_03_01:2710003 SNOMEDCT_US_2015_03_01:31069005 SNOMEDCT_US_2015_03_01:80801001 Tag (morphologic abnormality) UMLS_CUI:C0037293 cutaneous tag disease_ontology skin tag (disorder) skin tag NOS skin tag NOS (disorder) soft fibroma SNOMEDCT_2005_07_31:80801001 Tag (morphologic abnormality) SNOMEDCT_2005_07_31:2710003 soft fibroma SNOMEDCT_2005_07_31:189051001 skin tag NOS SNOMEDCT_2005_07_31:255183007 skin tag NOS (disorder) Fibroepithelial polyp of skin NCI2004_11_17:C3374 Fibroepithelial polyp (morphologic abnormality) SNOMEDCT_2005_07_31:31069005 Fibroepithelial polyp NCI2004_11_17:C3337 CSP2005:2020-2747 cutaneous tag SNOMEDCT_2005_07_31:201091002 skin tag (disorder) type 1a ALPS DOID:6874 disease_ontology true mixed childhood rhabdomyosarcoma DOID:6876 disease_ontology pediatric mixed type Rhabdomyosarcoma true NCI2004_11_17:C7960 pediatric mixed type Rhabdomyosarcoma hamartoma of Apocrine Sweat gland DOID:6879 disease_ontology hamartoma of the Apocrine Sweat gland true NCI2004_11_17:C5563 hamartoma of the Apocrine Sweat gland embryonal cancer A germ cell cancer that is associated with an embryo. DOID:688 MSH:D009373 NCI:C3264 UMLS_CUI:C0027654 disease_ontology embryo neoplasm embryonal neoplasm CSP2005:2000-3997 embryo neoplasm NCI2004_11_17:C3264 embryonal neoplasm A germ cell cancer that is associated with an embryo. url:http://www.cancer.gov/dictionary/?CdrID=44250 small bowel fibrosarcoma A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. DOID:6880 Fibrosarcoma, small Intestine NCI:C5336 UMLS_CUI:C1335994 disease_ontology Fibrosarcoma, small Intestine NCI2004_11_17:C5336 A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. url:http://en.wikipedia.org/wiki/Fibrosarcoma ureter small cell carcinoma DOID:6886 NCI:C6176 UMLS_CUI:C1336878 disease_ontology ureteral small cell carcinoma NCI2004_11_17:C6176 ureteral small cell carcinoma recurrent ureteric cancer DOID:6887 disease_ontology recurrent Ureter carcinoma true NCI2004_11_17:C9255 recurrent Ureter carcinoma ureter transitional cell carcinoma DOID:6888 NCI:C4830 SNOMEDCT_US_2015_03_01:300988009 UMLS_CUI:C0577692 disease_ontology transitional cell carcinoma of ureter (disorder) ureteral Urothelial cell carcinoma SNOMEDCT_2005_07_31:300988009 transitional cell carcinoma of ureter (disorder) NCI2004_11_17:C4830 ureteral Urothelial cell carcinoma AIDS-related cervical cancer AIDS Related carcinoma of the uterine Cervix DOID:6893 disease_ontology true AIDS Related carcinoma of the uterine Cervix NCI2004_11_17:C7432 AIDS-related cervical Kaposi's sarcoma AIDS-Related Kaposi's sarcoma of Cervix DOID:6894 disease_ontology true AIDS-Related Kaposi's sarcoma of Cervix NCI2004_11_17:C7433 AIDS-related Kaposi's sarcoma A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. AIDS with Kaposi's sarcoma (disorder) Autoimmune deficiency syndrome-Related Kaposi sarcoma DOID:6895 Epidemic Kaposi's sarcoma HIV disease resulting in Kaposi's sarcoma (disorder) disease_ontology true A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma Autoimmune deficiency syndrome-Related Kaposi sarcoma NCI2004_11_17:C3992 AIDS with Kaposi's sarcoma (disorder) SNOMEDCT_2005_07_31:77865003 Epidemic Kaposi's sarcoma SNOMEDCT_2005_07_31:109385007 HIV disease resulting in Kaposi's sarcoma (disorder) SNOMEDCT_2005_07_31:186722007 Malposition and malpresentation of fetus DOID:6897 disease_ontology true ovary mixed epithelial carcinoma DOID:6898 UMLS_CUI:C0279392 disease_ontology mixed epithelial carcinoma of Ovary NCI2004_11_17:C9123 mixed epithelial carcinoma of Ovary malignant ovarian mixed epithelial neoplasm DOID:6899 NCI:C40090 UMLS_CUI:C1518232 disease_ontology hemopoetic tissue disease DOID:69 disease_ontology true childhood cancer of liver DOID:690 disease_ontology pediatric cancer of the Liver pediatric carcinoma of the Liver cell true NCI2004_11_17:C7708 pediatric cancer of the Liver NCI2004_11_17:C7955 pediatric carcinoma of the Liver cell familiar ovarian carcinoma DOID:6901 NCI:C36102 UMLS_CUI:C1333992 disease_ontology eye lymphoma A lymphoma by site that is manifested in immune system cells called lymphocytes. DOID:6903 NCI:C35690 UMLS_CUI:C1333519 disease_ontology A lymphoma by site that is manifested in immune system cells called lymphocytes. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp AIDS-related herpes zoster A herpes zoster that is complicated_by AIDS. DOID:6905 disease_ontology true A herpes zoster that is complicated_by AIDS. url:http://www.aidsinfonet.org/fact_sheets/view/509 glomangiomatosis DOID:6906 NCI:C27496 SNOMEDCT_US_2015_03_01:703603008 UMLS_CUI:C1333824 disease_ontology predominantly cortical thymoma DOID:6917 Lymphocyte-Predominant Thymoma NCI:C6887 SNOMEDCT_US_2015_03_01:128711009 Thymoma, organoid UMLS_CUI:C1266094 disease_ontology SNOMEDCT_2005_07_31:128711009 Thymoma, organoid Lymphocyte-Predominant Thymoma NCI2004_11_17:C6887 extramucosal (perianal) adenocarcinoma DOID:6918 DOID:6919 Extramucosal (Perianal) adenocarcinoma of anus adenocarcinoma of anus within Anorectal fistula adenocarcinoma of the anus within Anorectal fistula disease_ontology extramucosal (perianal) adenocarcinoma of the anus true NCI2004_11_17:C7475 adenocarcinoma of anus within Anorectal fistula Extramucosal (Perianal) adenocarcinoma of anus NCI2004_11_17:C7474 fibrolipomatous hamartoma of peripheral nerve DOID:6923 disease_ontology true peroneal nerve paralysis DOID:6925 ICD10CM:G57.3 MSH:D020427 NCI:C27061 Peroneal nerve palsy SNOMEDCT_US_2015_03_01:34553007 UMLS_CUI:C0270810 disease_ontology Peroneal nerve palsy SNOMEDCT_2005_07_31:34553007 retinal edema DOID:6929 ICD10CM:H35.81 ICD9CM:362.83 MSH:D010211 RETINAL EDEMA Retinal edema Retinal edema (disorder) Retinal edema NOS (disorder) SNOMEDCT_US_2015_03_01:193426002 SNOMEDCT_US_2015_03_01:6141006 UMLS_CUI:C0242420 disease_ontology MTH:NOCODE RETINAL EDEMA Retinal edema (disorder) SNOMEDCT_2005_07_31:6141006 ICD9CM_2006:362.83 Retinal edema Retinal edema NOS (disorder) SNOMEDCT_2005_07_31:193426002 dental enamel hypoplasia DOID:693 Enamel Hypoplasia Enamel hypoplasia Enamel hypoplasia (disorder) MSH:D003744 NCI:C34529 SNOMEDCT_US_2015_03_01:196277000 SNOMEDCT_US_2015_03_01:26597004 SNOMEDCT_US_2015_03_01:699382004 UMLS_CUI:C0011351 disease_ontology Enamel hypoplasia (disorder) SNOMEDCT_2005_07_31:26597004 Enamel Hypoplasia NCI2004_11_17:C34529 Enamel hypoplasia SNOMEDCT_2005_07_31:196277000 Enamel hypoplasia MTHICD9_2006:520.4 papillary extrahepatic bile duct adenocarcinoma DOID:6931 UMLS_CUI:C0861858 disease_ontology urinary bladder inverted papilloma DOID:6932 NCI:C39859 SNOMEDCT_US_2015_03_01:447765004 UMLS_CUI:C1511190 disease_ontology bladder transitional cell papilloma DOID:2141 DOID:6933 NCI:C3842 NCI:C39858 SNOMEDCT_US_2015_03_01:154620001 SNOMEDCT_US_2015_03_01:189459005 SNOMEDCT_US_2015_03_01:269642004 SNOMEDCT_US_2015_03_01:313414002 SNOMEDCT_US_2015_03_01:45083001 UMLS_CUI:C0235754 UMLS_CUI:C1384678 Urothelial papilloma Urothelial papilloma (morphologic abnormality) bladder papilloma bladder papilloma NOS bladder papilloma NOS (disorder) disease_ontology transitional cell papilloma of bladder urinary bladder Urothelial papilloma NCI2004_11_17:C39858 urinary bladder Urothelial papilloma SNOMEDCT_2005_07_31:189459005 transitional cell papilloma of bladder SNOMEDCT_2005_07_31:154620001 SNOMEDCT_2005_07_31:269642004 bladder papilloma NOS SNOMEDCT_2005_07_31:313414002 bladder papilloma NOS (disorder) SNOMEDCT_2005_07_31:45083001 Urothelial papilloma (morphologic abnormality) NCI2004_11_17:C3842 Urothelial papilloma urethra inverted papilloma DOID:6934 Inverted papilloma of the urethra NCI:C6173 UMLS_CUI:C1336887 disease_ontology Inverted papilloma of the urethra NCI2004_11_17:C6173 ureter inverted papilloma DOID:6935 NCI:C6174 UMLS_CUI:C1336874 disease_ontology ureteral Inverted papilloma NCI2004_11_17:C6174 ureteral Inverted papilloma ureter urothelial papilloma DOID:6936 NCI:C6160 UMLS_CUI:C1519823 disease_ontology pediatric Intraocular retinoblastoma An intraocular retinoblastoma that effects children. DOID:6938 NCI:C9047 UMLS_CUI:C1321869 childhood Intraocular Retinoblastoma disease_ontology NCI2004_11_17:C9047 childhood Intraocular Retinoblastoma An intraocular retinoblastoma that effects children. url:http://www.answers.com/topic/intraocular-retinoblastoma childhood brain meningioma DOID:6939 NCI:C6253 UMLS_CUI:C1332949 disease_ontology pediatric meningioma of brain NCI2004_11_17:C6253 pediatric meningioma of brain vulvar inverted follicular keratosis DOID:6943 NCI:C40291 UMLS_CUI:C1520084 disease_ontology vulvar seborrheic keratosis DOID:6944 NCI:C6375 Seborrheic Keratosis of Vulva UMLS_CUI:C1336981 disease_ontology NCI2004_11_17:C6375 Seborrheic Keratosis of Vulva inverted follicular keratosis DOID:6945 Inverted Follicular Keratosis Inverted folicular keratosis Inverted follicular keratosis Inverted follicular keratosis (disorder) NCI:C9007 SNOMEDCT_US_2015_03_01:15112009 SNOMEDCT_US_2015_03_01:201096007 SNOMEDCT_US_2015_03_01:394728005 UMLS_CUI:C0334019 disease_ontology Inverted follicular keratosis SNOMEDCT_2005_07_31:201096007 Inverted Follicular Keratosis NCI2004_11_17:C9007 Inverted folicular keratosis SNOMEDCT_2005_07_31:15112009 Inverted follicular keratosis (disorder) SNOMEDCT_2005_07_31:394728005 sphenoidal sinus neoplasm DOID:6947 NCI:C6792 SNOMEDCT_US_2015_03_01:126679002 UMLS_CUI:C0345676 disease_ontology neoplasm of sphenoidal sinus (disorder) tumor of Sphenoidal sinus SNOMEDCT_2005_07_31:126679002 neoplasm of sphenoidal sinus (disorder) NCI2004_11_17:C6792 tumor of Sphenoidal sinus malignant gastric teratoma DOID:6948 NCI:C5256 UMLS_CUI:C1334151 disease_ontology malignant teratoma of stomach NCI2004_11_17:C5256 malignant teratoma of stomach malignant gastric germ cell tumor DOID:6949 disease_ontology malignant germ cell tumor of stomach true NCI2004_11_17:C5486 malignant germ cell tumor of stomach combat disorder An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. Combat Neurosis DOID:6950 MSH:D003130 NCI:C34498 UMLS_CUI:C0009426 disease_ontology Combat Neurosis NCI2004_11_17:C34498 An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. url:http://neurolex.org/wiki/Category:Combat_Disorder telangiectatic osteogenic sarcoma DOID:6951 NCI:C3902 SNOMEDCT_US_2015_03_01:78453009 Telangiectatic osteosarcoma (morphologic abnormality) UMLS_CUI:C0259782 disease_ontology SNOMEDCT_2005_07_31:78453009 Telangiectatic osteosarcoma (morphologic abnormality) Epstein-Barr virus related lymphoma An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. DOID:6954 EBV Related Lymphoma disease_ontology true An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm EBV Related Lymphoma NCI2004_11_17:C27691 intracranial melanoma DOID:6955 disease_ontology true malignant intracranial neoplasm By Morphology DOID:6956 disease_ontology true aleukemic monocytic leukemia cutis DOID:6958 NCI:C5630 UMLS_CUI:C1332232 disease_ontology rectal cloacogenic carcinoma DOID:6959 NCI:C5555 UMLS_CUI:C1333074 disease_ontology transitional Zone carcinoma of rectum NCI2004_11_17:C5555 transitional Zone carcinoma of rectum Bartholin's gland squamous cell carcinoma Bartholin gland squamous cell carcinoma DOID:6961 NCI:C40293 UMLS_CUI:C1511052 disease_ontology recurrent cancer of skin DOID:6962 disease_ontology recurrent Cutaneous carcinoma true NCI2004_11_17:C7903 recurrent Cutaneous carcinoma acute canaliculitis DOID:6969 ICD10CM:H04.33 ICD9CM:375.31 SNOMEDCT_US_2015_03_01:84399007 UMLS_CUI:C0339130 acute canaliculitis, lacrimal acute lacrimal canaliculitis (disorder) disease_ontology ICD9CM_2006:375.31 acute canaliculitis, lacrimal SNOMEDCT_2005_07_31:84399007 acute lacrimal canaliculitis (disorder) acute inflammation of lacrimal passage DOID:6970 ICD10CM:H04.3 ICD9CM:375.3 SNOMEDCT_US_2015_03_01:193986007 SNOMEDCT_US_2015_03_01:267652006 SNOMEDCT_US_2015_03_01:302900006 UMLS_CUI:C0339129 acute and unspecified inflammation of lacrimal passages acute and unspecified inflammation of lacrimal passages (disorder) acute inflammation of lacrimal passages (disorder) disease_ontology ICD9CM_2006:375.3 acute and unspecified inflammation of lacrimal passages SNOMEDCT_2005_07_31:302900006 acute inflammation of lacrimal passages (disorder) SNOMEDCT_2005_07_31:193986007 acute and unspecified inflammation of lacrimal passages SNOMEDCT_2005_07_31:267652006 acute and unspecified inflammation of lacrimal passages (disorder) bladder urothelial papillary carcinoma DOID:6975 NCI:C7383 UMLS_CUI:C1518882 disease_ontology urothelial papillary carcinoma of the bladder micropapillary variant infiltrating bladder urothelial carcinoma DOID:6976 NCI:C27202 UMLS_CUI:C1517579 disease_ontology pancreatic cholera DOID:6977 Excessive vasoactive intestinal peptide secretion [Ambiguous] MSH:D003969 NCI:C3488 SNOMEDCT_US_2015_03_01:237576001 SNOMEDCT_US_2015_03_01:39998009 SNOMEDCT_US_2015_03_01:70091000 UMLS_CUI:C0086768 Verner-Morrison syndrome (disorder) disease_ontology pancreatic WDHA syndrome SNOMEDCT_2005_07_31:39998009 Verner-Morrison syndrome (disorder) Excessive vasoactive intestinal peptide secretion [Ambiguous] SNOMEDCT_2005_07_31:237576001 NCI2004_11_17:C3488 pancreatic WDHA syndrome dentin sensitivity DOID:698 MSH:D003807 NCI:C50778 SNOMEDCT_US_2015_03_01:13468005 Sensitive dentin Sensitive dentin (disorder) UMLS_CUI:C0011432 disease_ontology SNOMEDCT_2005_07_31:13468005 Sensitive dentin (disorder) MTHICD9_2006:521.8 Sensitive dentin recurrent rectosigmoid cancer DOID:6980 disease_ontology relapsed Rectosigmoid cancer true NCI2004_11_17:C8634 relapsed Rectosigmoid cancer recurrent colorectal cancer Colorectal carcinoma recurrent DOID:6981 disease_ontology true Colorectal carcinoma recurrent NCI2004_11_17:C8625 peripheral epithelioid sarcoma DOID:6988 NCI:C27473 UMLS_CUI:C1333306 disease_ontology non-neoplastic non-molar trophoblastic disorder DOID:6989 disease_ontology true mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction. DOID:699 MSH:D017240 NCI:C101328 OMIM mapping confirmed by DO. [SN]. OMIM:251900 SNOMEDCT_US_2015_03_01:16851005 SNOMEDCT_US_2015_03_01:240096000 UMLS_CUI:C0162670 disease_ontology mitochondrial cytopathy (disorder) A myopathy that is characterized by mitochondrial dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm SNOMEDCT_2005_07_31:240096000 mitochondrial cytopathy (disorder) placental site nodule or plaque DOID:6990 disease_ontology true exaggerated placental site DOID:6991 Exaggerated placental site (disorder) Exaggerated placental site (morphologic abnormality) disease_ontology true Exaggerated placental site (disorder) SNOMEDCT_2005_07_31:417150000 Exaggerated placental site (morphologic abnormality) SNOMEDCT_2005_07_31:416635001 intraocular mixed cell type melanoma DOID:6992 NCI:C7989 UMLS_CUI:C0279693 disease_ontology mixed cell type Uveal melanoma NCI2004_11_17:C7989 mixed cell type Uveal melanoma iris mixed cell melanoma DOID:6993 NCI:C6101 UMLS_CUI:C1334210 disease_ontology malignant iris melanoma DOID:6994 NCI:C9088 SNOMEDCT_US_2015_03_01:255012009 UMLS_CUI:C0346373 disease_ontology malignant melanoma of iris (disorder) melanoma of the Iris SNOMEDCT_2005_07_31:255012009 malignant melanoma of iris (disorder) NCI2004_11_17:C9088 melanoma of the Iris metastasis to the kidney DOID:6995 disease_ontology metastasis to kidney metastatic neoplasm to the kidney secondary malignant neoplasm of kidney secondary malignant neoplasm of kidney (disorder) true SNOMEDCT_2005_07_31:94360002 secondary malignant neoplasm of kidney (disorder) ICD9CM_2006:198.0 secondary malignant neoplasm of kidney NCI2004_11_17:C7549 metastatic neoplasm to the kidney SNOMEDCT_2005_07_31:154569009 metastasis to kidney intermediate cell type choroid melanoma DOID:6996 NCI:C6100 UMLS_CUI:C1334208 disease_ontology mixed cell melanoma of Choroid NCI2004_11_17:C6100 mixed cell melanoma of Choroid intermediate cell type ciliary body melanoma DOID:6997 NCI:C6118 UMLS_CUI:C1334209 disease_ontology gallbladder mucinous carcinoma Colloidal carcinoma of the gallbladder DOID:6998 NCI:C5744 UMLS_CUI:C1333750 disease_ontology Colloidal carcinoma of the gallbladder NCI2004_11_17:C5744 lung recurrent squamous cell carcinoma DOID:6999 disease_ontology recurrent squamous cell carcinoma of lung recurrent squamous cell carcinoma of the lung true NCI2004_11_17:C5014 recurrent squamous cell carcinoma of the lung disease of anatomical entity A disease that manifests in a defined anatomical structure. DOID:1 DOID:2 DOID:5 DOID:7 DOID:71 DOID:72 DOID:8 disease_ontology A disease that manifests in a defined anatomical structure. DO:wk,ls URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic lymphoid tissue disease DOID:70 disease_ontology true mitochondrial metabolism disease An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. DOID:700 MSH:D028361 SNOMEDCT_US_2015_03_01:240096000 UMLS_CUI:C0751651 disease_ontology An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_disease recurrent large cell carcinoma of lung DOID:7001 disease_ontology relapsed large cell carcinoma of the lung true NCI2004_11_17:C8753 relapsed large cell carcinoma of the lung recurrent adenocarcinoma of lung DOID:7002 disease_ontology lung Adenocarcinoma, recurrent true NCI2004_11_17:C8757 lung Adenocarcinoma, recurrent malignant vaginal mixed tumor resembling synovial sarcoma DOID:7003 disease_ontology true ACTH-secreting pituitary adenoma A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma DOID:7004 MSH:D049913 NCI:C7462 OMIM mapping confirmed by DO. [SN]. OMIM:219090 SNOMEDCT_US_2015_03_01:21109002 SNOMEDCT_US_2015_03_01:254958004 UMLS_CUI:C1306214 disease_ontology Corticotropinoma NCI2004_11_17:C7462 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. url:http://en.wikipedia.org/wiki/Cushing%27s_syndrome Corticotroph adenoma SNOMEDCT_2005_07_31:21109002 gemistocytic astrocytoma DOID:7005 Gemistocytic Astrocytic tumor Gemistocytic astrocytoma (morphologic abnormality) MSH:D001254 NCI:C4321 SNOMEDCT_US_2015_03_01:73982001 UMLS_CUI:C0334581 disease_ontology Gemistocytic astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:73982001 Gemistocytic Astrocytic tumor NCI2004_11_17:C4321 childhood cerebral diffuse astrocytoma DOID:7006 disease_ontology true childhood cerebral astrocytoma DOID:7007 MSH:D001254 NCI:C4347 UMLS_CUI:C0338070 disease_ontology pediatric astrocytoma of Cerebrum NCI2004_11_17:C4347 pediatric astrocytoma of Cerebrum protoplasmic astrocytoma DOID:7008 MSH:D001254 NCI:C4320 Protoplasmic Astrocytic tumor Protoplasmic astrocytoma (morphologic abnormality) SNOMEDCT_US_2015_03_01:55094006 UMLS_CUI:C0334580 disease_ontology Protoplasmic astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:55094006 NCI2004_11_17:C4320 Protoplasmic Astrocytic tumor adult diffuse astrocytoma DOID:7009 disease_ontology true dentin dysplasia A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. DOID:701 Dentinal dysplasia ICD10CM:K00.5 MSH:D003805 OMIM:125400 OMIM:125420 ORDO:1635 SNOMEDCT_US_2015_03_01:109492001 SNOMEDCT_US_2015_03_01:45742009 UMLS_CUI:C0011430 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. url:http://en.wikipedia.org/wiki/Dentin_dysplasia Dentinal dysplasia SNOMEDCT_2005_07_31:45742009 recurrent thyroid carcinoma DOID:7011 disease_ontology relapsed cancer of the Thyroid true NCI2004_11_17:C7908 relapsed cancer of the Thyroid anaplastic thyroid carcinoma DOID:7012 anaplastic thyroid carcinoma (disorder) disease_ontology sarcomatoid Thyroid carcinoma true SNOMEDCT_2005_07_31:255031003 anaplastic thyroid carcinoma (disorder) NCI2004_11_17:C3878 sarcomatoid Thyroid carcinoma ovarian mucinous cystadenofibroma DOID:7013 NCI:C40041 UMLS_CUI:C1518725 disease_ontology infiltrating lipoma DOID:7014 Intramuscular Lipoma Intramuscular lipoma (morphologic abnormality) NCI:C7450 NCI:C7451 SNOMEDCT_US_2015_03_01:24045002 UMLS_CUI:C0334473 disease_ontology Intramuscular Lipoma NCI2004_11_17:C7450 Intramuscular lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:24045002 deep fatty neoplasm DOID:7015 Deep Fatty tumor disease_ontology true Deep Fatty tumor NCI2004_11_17:C6498 tendon sheath lipoma DOID:7016 Lipoma of the Tendon Sheath NCI:C6499 UMLS_CUI:C1336703 disease_ontology Lipoma of the Tendon Sheath NCI2004_11_17:C6499 lumbosacral lipoma DOID:7017 NCI:C6500 UMLS_CUI:C1334438 disease_ontology secondary malignant neoplasm to the adult brain DOID:7018 disease_ontology metastatic tumor to the adult brain true NCI2004_11_17:C5816 metastatic tumor to the adult brain tooth abnormality Congenital anomaly of teeth (disorder) DOID:702 congenital dentition disorder disease_ontology true CSP2005:0723-8720 congenital dentition disorder Congenital anomaly of teeth (disorder) SNOMEDCT_2005_07_31:79723009 borderline ovarian serous neoplasm with microinvasion DOID:7023 disease_ontology true mucinous intrahepatic cholangiocarcinoma DOID:7024 NCI:C41618 UMLS_CUI:C1513718 disease_ontology anaplastic malignant intracranial meningioma DOID:7025 disease_ontology true adult malignant meningioma DOID:7026 WHO grade III meningioma adult anaplastic (malignant) meningioma disease_ontology true NCI2004_11_17:C8275 adult anaplastic (malignant) meningioma NCI2004_11_17:C38938 WHO grade III meningioma site specific early onset breast cancer syndrome DOID:7029 disease_ontology true bronchial mucus gland adenoma DOID:7030 NCI:C5664 UMLS_CUI:C1332640 adenoma of bronchial mucus gland adenoma of the Bronchial Mucus gland disease_ontology NCI2004_11_17:C5664 adenoma of the Bronchial Mucus gland glottis squamous cell carcinoma DOID:7031 Epidermoid carcinoma of the Glottis NCI:C8186 UMLS_CUI:C0280325 disease_ontology squamous cell carcinoma of glottis Epidermoid carcinoma of the Glottis NCI2004_11_17:C8186 bile duct clear cell adenocarcinoma DOID:7032 NCI:C5775 UMLS_CUI:C0861855 bile duct clear cell carcinoma disease_ontology NCI2004_11_17:C5775 bile duct clear cell carcinoma anisakiasis A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. Anisakiasis (disorder) DOID:7033 ICD10CM:B81.0 ICD9CM:127.1 Infection by Anisakis larva Infection by Anisakis larva (disorder) [Ambiguous] MSH:D017129 SNOMEDCT_US_2015_03_01:187173002 SNOMEDCT_US_2015_03_01:32183007 UMLS_CUI:C0162576 disease_ontology Infection by Anisakis larva MTHICD9_2006:127.1 Anisakiasis (disorder) SNOMEDCT_2005_07_31:187173002 Infection by Anisakis larva (disorder) [Ambiguous] SNOMEDCT_2005_07_31:32183007 A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. url:http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf childhood immature teratoma of ovary DOID:7037 NCI:C6547 UMLS_CUI:C1332990 disease_ontology pediatric Immature teratoma of Ovary NCI2004_11_17:C6547 pediatric Immature teratoma of Ovary Borst-Jadassohn intraepidermal carcinoma Bowen's disease, clonal (disorder) DOID:7039 Intraepidermal Epithelioma of Jadassohn Intraepidermal epithelioma of Jadassohn (disorder) Intraepidermal epithelioma of Jadassohn (morphologic abnormality) NCI2009_04D:C4110 SNOMEDCT_US_2015_03_01:274897005 SNOMEDCT_US_2015_03_01:403886007 UMLS_CUI:C0334260 disease_ontology Intraepidermal Epithelioma of Jadassohn NCI2004_11_17:C4110 Intraepidermal epithelioma of Jadassohn (morphologic abnormality) SNOMEDCT_2005_07_31:39332000 Intraepidermal epithelioma of Jadassohn (disorder) SNOMEDCT_2005_07_31:274897005 Bowen's disease, clonal (disorder) SNOMEDCT_2005_07_31:403886007 uveal epithelioid cell melanoma DOID:7040 NCI:C35780 UMLS_CUI:C1333422 disease_ontology choroid epithelioid cell melanoma Choroidal epithelioid cell melanoma DOID:7041 NCI:C6102 UMLS_CUI:C1333024 disease_ontology Choroidal epithelioid cell melanoma NCI2004_11_17:C6102 ciliary body epithelioid cell melanoma DOID:7042 NCI:C6119 UMLS_CUI:C1333050 disease_ontology metastatic vulvar cancer DOID:7043 disease_ontology metastatic Vulvar carcinoma true NCI2004_11_17:C27247 metastatic Vulvar carcinoma basaloid lung carcinoma DOID:7045 NCI:C7266 UMLS_CUI:C1332463 disease_ontology cervical basaloid squamous cell carcinoma DOID:7046 NCI:C40189 UMLS_CUI:C1511063 disease_ontology penis basaloid carcinoma DOID:7047 NCI:C6980 UMLS_CUI:C1332462 disease_ontology squamous cell carcinoma of penis, Basaloid type NCI2004_11_17:C6980 squamous cell carcinoma of penis, Basaloid type vulvar basaloid squamous cell carcinoma DOID:7048 NCI2009_04D:C40286 disease_ontology basaloid squamous cell skin carcinoma DOID:7049 NCI:C27543 UMLS_CUI:C1335973 disease_ontology skin Basaloid squamous cell carcinoma NCI2004_11_17:C27543 skin Basaloid squamous cell carcinoma leber hereditary optic neuropathy DOID:705 ICD10CM:H47.22 Leber's hereditary optic neuropathy Leber's optic atrophy Leber's optic atrophy (disorder) MSH:D029242 NCI:C84808 OMIM mapping confirmed by DO. [SN]. OMIM:535000 SNOMEDCT_US_2015_03_01:194045006 SNOMEDCT_US_2015_03_01:230510002 SNOMEDCT_US_2015_03_01:58610003 UMLS_CUI:C0917796 disease_ontology optic atrophy, Leber's CSP2005:5000-0048 Leber's hereditary optic neuropathy CSP2005:2042-6601 Leber's hereditary optic neuropathy Leber's hereditary optic neuropathy SNOMEDCT_2005_07_31:230510002 Leber's optic atrophy SNOMEDCT_2005_07_31:194045006 Leber's optic atrophy (disorder) SNOMEDCT_2005_07_31:58610003 MTHICD9_2006:377.16 optic atrophy, Leber's thymus basaloid carcinoma Basaloid carcinoma of the Thymus DOID:7050 NCI:C6456 UMLS_CUI:C1332464 disease_ontology Basaloid carcinoma of the Thymus NCI2004_11_17:C6456 esophageal basaloid squamous cell carcinoma Basaloid squamous carcinoma of esophagus DOID:7051 NCI:C7032 UMLS_CUI:C1333443 disease_ontology Basaloid squamous carcinoma of esophagus NCI2004_11_17:C7032 anaplastic small cell thyroid carcinoma DOID:7053 Undifferentiated small cell carcinoma of the Thyroid gland disease_ontology true NCI2004_11_17:C7907 Undifferentiated small cell carcinoma of the Thyroid gland multiple skull base meningioma DOID:7054 NCI:C5279 UMLS_CUI:C1334829 disease_ontology mature B-cell neoplasm DOID:706 EFO:0000096 NCI:C27910 UMLS_CUI:C1334633 disease_ontology mature B-cell lymphocytic neoplasm precursor B lymphoblastic lymphoma/leukemia DOID:7061 NCI:C8936 UMLS_CUI:C0862030 disease_ontology B-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. B-cell lymphocytic neoplasm DOID:707 MSH:D016393 NCI:C27907 NCI:C3457 SNOMEDCT_US_2015_03_01:109979007 SNOMEDCT_US_2015_03_01:1929004 SNOMEDCT_US_2015_03_01:413616009 UMLS_CUI:C0079731 disease_ontology A non-Hodgkin lymphoma that has_material_basis_in B cells. url:http://en.wikipedia.org/wiki/B-cell_lymphoma recurrent pediatric rhabdomyosarcoma DOID:7070 disease_ontology relapsed pediatric Rhabdomyosarcoma true NCI2004_11_17:C7815 relapsed pediatric Rhabdomyosarcoma spinal cord dermoid cyst DOID:7071 NCI:C6808 Spinal Cord Dermoid UMLS_CUI:C1333278 disease_ontology NCI2004_11_17:C6808 Spinal Cord Dermoid choroidal hemorrhage and rupture Choroidal hemorrhage and rupture (disorder) Choroidal hemorrhage or rupture NOS (disorder) DOID:7074 disease_ontology true Choroidal hemorrhage and rupture (disorder) SNOMEDCT_2005_07_31:193474002 Choroidal hemorrhage or rupture NOS (disorder) SNOMEDCT_2005_07_31:193476000 atypical vulvar nevus DOID:7075 disease_ontology true lipid-rich breast carcinoma DOID:7076 NCI:C40365 UMLS_CUI:C1517894 disease_ontology malignant melanocytic peripheral nerve sheath tumor of mediastinum DOID:7077 NCI:C6630 UMLS_CUI:C1334600 disease_ontology mediastinal melanocytic MPNST NCI2004_11_17:C6630 mediastinal melanocytic MPNST malignant mediastinal peripheral nerve sheath tumor DOID:7078 MPNST of mediastinum disease_ontology true MPNST of mediastinum NCI2004_11_17:C6626 adult cystic teratoma DOID:7079 NCI:C9012 SNOMEDCT_US_2015_03_01:42717009 UMLS_CUI:C1368888 disease_ontology lung mixed small cell and squamous cell carcinoma DOID:7080 DOID:7081 NCI2009_04D:C9423 NCI:C9423 UMLS_CUI:C1334788 combined small and large cell lung cancer disease_ontology mixed small cell and squamous cell carcinoma of lung small cell and large cell carcinoma of the lung small cell and squamous cell carcinoma of the lung NCI2004_11_17:C9424 small cell and large cell carcinoma of the lung NCI2004_11_17:C9423 small cell and squamous cell carcinoma of the lung recurrent adult primary hepatoma DOID:7083 disease_ontology true recurrent adult primary liver cancer DOID:7084 disease_ontology relapsed adult Liver cancer true NCI2004_11_17:C7880 relapsed adult Liver cancer multicentric papillary thyroid carcinoma DOID:7086 NCI:C37304 UMLS_CUI:C1334817 disease_ontology columnar cell variant papillary carcinoma DOID:7088 NCI:C35830 UMLS_CUI:C1333120 disease_ontology tall cell variant papillary carcinoma DOID:7089 NCI:C35558 UMLS_CUI:C1336695 disease_ontology splenic manifestation of hairy cell leukemia DOID:709 NCI:C7301 UMLS_CUI:C1336064 disease_ontology pediatric epithelioid sarcoma DOID:7095 NCI:C8095 UMLS_CUI:C0279989 disease_ontology macrocystic pattern testicular yolk sac tumor DOID:7097 NCI:C39924 UMLS_CUI:C1515307 disease_ontology ovarian dermoid cyst with squamous cell carcinoma DOID:7099 disease_ontology true splenic manifestation of leukemia A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. DOID:710 NCI:C7296 UMLS_CUI:C1336065 disease_ontology splenic leukemia A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. url:http://www.medilexicon.com/medicaldictionary.php?t=49026 diaphragma sellae meningioma DOID:7103 NCI:C5283 UMLS_CUI:C1333283 disease_ontology meningioma of Diaphragm Sellae NCI2004_11_17:C5283 meningioma of Diaphragm Sellae epiglottis neoplasm DOID:7105 Epiglottic tumor NCI:C4933 SNOMEDCT_US_2015_03_01:126699008 UMLS_CUI:C1290353 disease_ontology neoplasm of epiglottis (disorder) Epiglottic tumor NCI2004_11_17:C4933 SNOMEDCT_2005_07_31:126699008 neoplasm of epiglottis (disorder) refractory hairy cell leukemia A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. DOID:711 NCI:C8030 Refractory Hairy cell Leukemia UMLS_CUI:C0279780 disease_ontology A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. url:http://en.wikipedia.org/wiki/Hairy_cell_leukemia url:http://www.medterms.com/script/main/art.asp?articlekey=5274 NCI2004_11_17:C8030 Refractory Hairy cell Leukemia refractory hematologic cancer A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. DOID:712 NCI:C27357 UMLS_CUI:C1335724 disease_ontology A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863 radiation cystitis DOID:7127 ICD10CM:N30.4 ICD9CM:595.82 Irradiation cystitis Irradiation cystitis (disorder) SNOMEDCT_US_2015_03_01:11251000 UMLS_CUI:C0156270 disease_ontology ICD9CM_2006:595.82 Irradiation cystitis Irradiation cystitis (disorder) SNOMEDCT_2005_07_31:11251000 HCL-V DOID:713 Hairy cell leukaemia variant Hairy cell leukemia variant (disorder) NCI:C7401 SNOMEDCT_US_2015_03_01:277568007 SNOMEDCT_US_2015_03_01:54087003 UMLS_CUI:C0349633 disease_ontology Hairy cell leukaemia variant SNOMEDCT_2005_07_31:54087003 Hairy cell leukemia variant (disorder) SNOMEDCT_2005_07_31:277568007 urinary bladder small cell neuroendocrine carcinoma DOID:7132 NCI:C9461 UMLS_CUI:C1332564 disease_ontology small cell neuroendocrine carcinoma of the urinary bladder small cell/neuroendocrine carcinoma of urinary bladder NCI2004_11_17:C9461 small cell/neuroendocrine carcinoma of urinary bladder gallbladder small cell carcinoma DOID:7133 NCI:C6763 Oat cell carcinoma of the gallbladder UMLS_CUI:C1333759 disease_ontology NCI2004_11_17:C6763 Oat cell carcinoma of the gallbladder esophagus small cell carcinoma DOID:7134 NCI:C6762 Oat cell carcinoma of esophagus UMLS_CUI:C1112474 disease_ontology NCI2004_11_17:C6762 Oat cell carcinoma of esophagus ampulla of Vater small cell carcinoma DOID:7136 NCI:C6655 UMLS_CUI:C1332250 ampullary small cell carcinoma disease_ontology cystitis cystica DOID:7138 ICD9CM:595.81 NCI:C96230 SNOMEDCT_US_2015_03_01:13285005 UMLS_CUI:C0152262 cystitis cystica (disorder) disease_ontology SNOMEDCT_2005_07_31:13285005 cystitis cystica (disorder) endometrial small cell carcinoma DOID:7139 NCI:C40155 UMLS_CUI:C1516858 disease_ontology Bartholin's gland small cell carcinoma Bartholin gland small cell carcinoma DOID:7140 NCI:C40298 UMLS_CUI:C1511051 disease_ontology prostate small cell carcinoma DOID:7141 NCI:C6766 SNOMEDCT_US_2015_03_01:396198006 UMLS_CUI:C1300585 disease_ontology prostate Oat cell carcinoma small cell carcinoma of prostate (disorder) SNOMEDCT_2005_07_31:396198006 small cell carcinoma of prostate (disorder) NCI2004_11_17:C6766 prostate Oat cell carcinoma thymus small cell carcinoma DOID:7142 NCI:C6460 UMLS_CUI:C1335980 disease_ontology small cell carcinoma of the Thymus NCI2004_11_17:C6460 small cell carcinoma of the Thymus laryngeal small cell carcinoma DOID:7144 NCI:C6025 UMLS_CUI:C1334378 disease_ontology small cell carcinoma of Larynx NCI2004_11_17:C6025 small cell carcinoma of Larynx papillary cystic tumor DOID:7145 Papillary cystic neoplasm Papillary cystic tumour disease_ontology solid pseudopapillary tumour true Papillary cystic tumour SNOMEDCT_2005_07_31:189696009 SNOMEDCT_2005_07_31:27078002 solid pseudopapillary tumour NCI2004_11_17:C4179 Papillary cystic neoplasm Langerhans cell sarcoma A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. DOID:7146 ICD10CM:C96.4 MSH:D054752 NCI:C6921 SNOMEDCT_US_2015_03_01:128814006 UMLS_CUI:C1260327 disease_ontology A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. url:http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma url:http://www.wrongdiagnosis.com/l/langerhans_cell_sarcoma/intro.htm ankylosing spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. Bekhterev syndrome Bekhterev's disease DOID:7147 EFO:0003898 ICD10CM:M45 ICD9CM:720.0 MSH:D013167 Marie-Strumpell disease NCI:C84564 ORDO:825 SNOMEDCT_US_2015_03_01:156619005 SNOMEDCT_US_2015_03_01:9631008 UMLS_CUI:C0038013 disease_ontology A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. ls:IEDB url:http://en.wikipedia.org/wiki/Ankylosing_spondylitis url:http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483 url:http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm url:http://www.spondylitis.org/about/as.aspx rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. Arthritis or polyarthritis, rheumatic DOID:7148 EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MSH:D001172 NCI:C27206 NCI:C2884 OMIM mapping confirmed by DO. [SN]. OMIM:180300 SNOMEDCT_US_2015_03_01:156471009 SNOMEDCT_US_2015_03_01:156481008 SNOMEDCT_US_2015_03_01:287010008 SNOMEDCT_US_2015_03_01:69896004 UMLS_CUI:C0003873 atrophic Arthritis disease_ontology NCI2004_11_17:C27206 atrophic Arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. url:http://en.wikipedia.org/wiki/Rheumatoid_arthritis url:http://www.arthritis.org/disease-center.php?disease_id=31 url:http://www.mayoclinic.com/health/rheumatoid-arthritis/DS00020 url:http://www.medicinenet.com/rheumatoid_arthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis Arthritis or polyarthritis, rheumatic MTHICD9_2006:714.0 metastatic parathyroid cancer DOID:7149 disease_ontology metastatic Parathyroid carcinoma true NCI2004_11_17:C9044 metastatic Parathyroid carcinoma T-cell leukemia DOID:715 MSH:D015458 UMLS_CUI:C0023492 disease_ontology recurrent parathyroid cancer DOID:7150 disease_ontology recurrent Parathyroid carcinoma true NCI2004_11_17:C7828 recurrent Parathyroid carcinoma prostate stromal sarcoma A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. DOID:7152 NCI:C5524 Stromal sarcoma of the prostate UMLS_CUI:C1335521 disease_ontology A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. url:http://www.gfmer.ch/selected_images_v2/detail_list.php?cat1=13&cat3=1021&stype=d NCI2004_11_17:C5524 Stromal sarcoma of the prostate anaplastic oligodendroglioma DOID:7154 Oligodendroglioma, anaplastic (morphologic abnormality) Undifferentiated Oligodendroglioma disease_ontology true NCI2004_11_17:C4326 Undifferentiated Oligodendroglioma Oligodendroglioma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:3102004 adult undifferentiated oligodendroglioma DOID:7155 disease_ontology true anaplastic childhood oligodendroglioma DOID:7156 Undifferentiated pediatric Oligodendroglioma disease_ontology true NCI2004_11_17:C5447 Undifferentiated pediatric Oligodendroglioma metastatic squamous neck cancer with occult primary DOID:7157 disease_ontology squamous cell carcinoma metastatic to the neck with Occult primary true NCI2004_11_17:C7713 squamous cell carcinoma metastatic to the neck with Occult primary recurrent metastatic squamous cell cancer to the neck with occult primary DOID:7158 disease_ontology relapsed metastatic Epidermoid carcinoma to the neck with Occult primary true NCI2004_11_17:C9117 relapsed metastatic Epidermoid carcinoma to the neck with Occult primary Human T-lymphotropic virus 2 infectious disease A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. DOID:716 HTLV-II infectious disease disease_ontology true A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. url:http://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf url:http://www.communitybloodservices.org/pdf/inserts/Abbott%20Prism%20HTLV%20I%20II.pdf rectum leiomyoma DOID:7160 NCI:C5552 UMLS_CUI:C1335682 disease_ontology leiomyoma of rectum NCI2004_11_17:C5552 leiomyoma of rectum recurrent larynx cancer DOID:7162 disease_ontology relapsed carcinoma of the Larynx true NCI2004_11_17:C4034 relapsed carcinoma of the Larynx mediastinum mature teratoma DOID:7164 Mature teratoma of mediastinum disease_ontology true Mature teratoma of mediastinum NCI2004_11_17:C7104 subacute thyroiditis DOID:7165 De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis ICD10CM:E06.1 ICD9CM:245.1 MSH:D013968 NCI:C35071 NCI:C35828 SNOMEDCT_US_2015_03_01:154666006 SNOMEDCT_US_2015_03_01:190296009 SNOMEDCT_US_2015_03_01:237530000 SNOMEDCT_US_2015_03_01:237531001 SNOMEDCT_US_2015_03_01:237532008 SNOMEDCT_US_2015_03_01:237533003 SNOMEDCT_US_2015_03_01:38727009 SNOMEDCT_US_2015_03_01:428041004 Subacute Granulomatous Thyroiditis Subacute Thyroiditis Subacute thyroiditis (disorder) UMLS_CUI:C0040149 de Quervain's thyroiditis disease_ontology De Quervain's thyroiditis SNOMEDCT_2005_07_31:237530000 Granulomatous thyroiditis SNOMEDCT_2005_07_31:237532008 SNOMEDCT_2005_07_31:154666006 de Quervain's thyroiditis Giant-cell thyroiditis SNOMEDCT_2005_07_31:237531001 NCI2004_11_17:C35071 Subacute Thyroiditis SNOMEDCT_2005_07_31:190296009 de Quervain's thyroiditis SNOMEDCT_2005_07_31:38727009 Subacute thyroiditis (disorder) NCI2004_11_17:C35828 Subacute Granulomatous Thyroiditis Granulomatous thyroiditis MTHICD9_2006:245.1 thyroiditis DOID:7166 ICD10CM:E06 ICD10CM:E06.9 ICD9CM:245 ICD9CM:245.9 MSH:D013966 NCI:C26894 SNOMEDCT_US_2015_03_01:154664009 SNOMEDCT_US_2015_03_01:154668007 SNOMEDCT_US_2015_03_01:190301009 SNOMEDCT_US_2015_03_01:82119001 UMLS_CUI:C0040147 Updating to more specific UMLS_CUI from C0029495 to C0040147. disease_ontology lung occult adenocarcinoma DOID:7168 NCI:C6699 Occult adenocarcinoma of the lung UMLS_CUI:C1335096 disease_ontology occult adenocarcinoma of lung NCI2004_11_17:C6699 Occult adenocarcinoma of the lung lung occult large cell carcinoma DOID:7169 NCI:C6685 Occult large cell carcinoma of the lung UMLS_CUI:C1335095 disease_ontology NCI2004_11_17:C6685 Occult large cell carcinoma of the lung recurrent non-cutaneous melanoma DOID:7170 disease_ontology true recurrent cutaneous melanoma DOID:7171 disease_ontology recurrent malignant melanoma recurrent melanoma of skin true NCI2004_11_17:C7087 recurrent malignant melanoma NCI2004_11_17:C9097 recurrent melanoma of skin cloacogenic carcinoma Cloacogenic anal carcinoma Cloacogenic carcinoma (morphologic abnormality) DOID:7173 MSH:C562739 NCI:C8255 OMIM mapping confirmed by DO. [SN]. OMIM:105580 SNOMEDCT_US_2015_03_01:84570003 UMLS_CUI:C0334273 disease_ontology Cloacogenic anal carcinoma NCI2004_11_17:C8255 Cloacogenic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:84570003 anus basaloid carcinoma DOID:7174 NCI:C8256 UMLS_CUI:C0280470 anal Basaloid carcinoma basaloid carcinoma of the anus disease_ontology NCI2004_11_17:C8256 anal Basaloid carcinoma anal Buschke-Lowenstein tumor DOID:7175 NCI:C7470 UMLS_CUI:C1332278 anal Giant (malignant) Condyloma disease_ontology NCI2004_11_17:C7470 anal Giant (malignant) Condyloma anal canal squamous cell carcinoma An anal canal cancer that derives_from epithelial squamous cells. DOID:7177 NCI:C7469 UMLS_CUI:C1332262 disease_ontology An anal canal cancer that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma mixed eosinophil-basophil adenoma DOID:7179 NCI:C4148 SNOMEDCT_US_2015_03_01:48619006 UMLS_CUI:C0334312 disease_ontology mixed acidophil-basophil adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:48619006 mixed acidophil-basophil adenoma (morphologic abnormality) autoimmune hemolytic anemia An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. Autoimmune haemolytic anaemia Autoimmune hemolytic anemia NOS (disorder) CSP:0427-1178 DOID:718 ICD9CM:283.0 MSH:D000744 NCI:C34378 OMIM mapping confirmed by DO. [SN]. OMIM:205700 SNOMEDCT_US_2015_03_01:154803002 SNOMEDCT_US_2015_03_01:191209000 SNOMEDCT_US_2015_03_01:191215000 SNOMEDCT_US_2015_03_01:25121006 SNOMEDCT_US_2015_03_01:413603009 UMLS_CUI:C0002880 disease_ontology Autoimmune haemolytic anaemia SNOMEDCT_2005_07_31:154803002 Autoimmune hemolytic anemia NOS (disorder) SNOMEDCT_2005_07_31:191215000 An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia benign dermal neurilemmoma DOID:7181 NCI:C5569 UMLS_CUI:C1332490 benign Schwannoma of the skin disease_ontology NCI2004_11_17:C5569 benign Schwannoma of the skin metastatic childhood sarcoma of soft tissue DOID:7186 disease_ontology metastatic pediatric sarcoma of the soft tissue true NCI2004_11_17:C8066 metastatic pediatric sarcoma of the soft tissue subacute lymphocytic thyroiditis DOID:7187 NCI:C35829 SNOMEDCT_US_2015_03_01:18018005 SNOMEDCT_US_2015_03_01:361126006 Subacute lymphocytic thyroiditis Subacute lymphocytic thyroiditis (disorder) UMLS_CUI:C1306804 disease_ontology SNOMEDCT_2005_07_31:361126006 Subacute lymphocytic thyroiditis (disorder) SNOMEDCT_2005_07_31:18018005 Subacute lymphocytic thyroiditis autoimmune thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. Chronic Lymphocytic Thyroiditis DOID:0050435 DOID:7188 Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis ICD10CM:E06.3 Lymphocytic Thyroiditis MSH:D013967 NCI:C38766 OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2015_03_01:190297000 SNOMEDCT_US_2015_03_01:21983002 SNOMEDCT_US_2015_03_01:66944004 UMLS_CUI:C0920350 disease_ontology An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. sn:IEDB Lymphocytic Thyroiditis NCI2004_11_17:C38766 ovarian endometrioid cystadenoma DOID:7191 NCI:C40075 UMLS_CUI:C1518713 disease_ontology hereditary conventional renal cell carcinoma DOID:7192 NCI:C36260 UMLS_CUI:C1333985 disease_ontology maxillary sinus adenoid cystic carcinoma DOID:7198 NCI:C6239 UMLS_CUI:C1334643 adenoid cystic carcinoma of maxillary sinus adenoid cystic carcinoma of the maxillary sinus disease_ontology NCI2004_11_17:C6239 adenoid cystic carcinoma of the maxillary sinus normocytic anemia ANEMIA NORMOCYTIC DOID:720 NCI:C35142 Normocytic anemia (disorder) SNOMEDCT_US_2015_03_01:300980002 UMLS_CUI:C0085577 disease_ontology ANEMIA NORMOCYTIC MTH:NOCODE Normocytic anemia (disorder) SNOMEDCT_2005_07_31:300980002 intermediate malignant teratoma DOID:7202 Intermediate Immature teratoma NCI:C4288 SNOMEDCT_US_2015_03_01:21912003 UMLS_CUI:C0334522 disease_ontology malignant teratoma, intermediate (morphologic abnormality) Intermediate Immature teratoma NCI2004_11_17:C4288 SNOMEDCT_2005_07_31:21912003 malignant teratoma, intermediate (morphologic abnormality) melanomatosis DOID:7206 NCI:C9499 UMLS_CUI:C1334691 disease_ontology lung combined large cell neuroendocrine carcinoma DOID:7207 NCI:C7267 UMLS_CUI:C1333122 combined large cell neuroendocrine carcinoma of lung disease_ontology pulmonary Combined large cell neuroendocrine carcinoma NCI2004_11_17:C7267 pulmonary Combined large cell neuroendocrine carcinoma psammomatous meningioma DOID:7210 MSH:D008579 NCI:C4331 Psammomatous meningioma (morphologic abnormality) SNOMEDCT_US_2015_03_01:38431002 UMLS_CUI:C0334607 disease_ontology Psammomatous meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:38431002 fibrous meningioma DOID:7211 Fibroblastic meningioma MSH:D008579 NCI:C4330 SNOMEDCT_US_2015_03_01:511008 UMLS_CUI:C0334606 disease_ontology fibrous meningioma (morphologic abnormality) Fibroblastic meningioma NCI2004_11_17:C4330 SNOMEDCT_2005_07_31:511008 fibrous meningioma (morphologic abnormality) meningothelial meningioma DOID:7212 MSH:D008579 Meningotheliomatous meningioma NCI:C4329 SNOMEDCT_US_2015_03_01:68944005 UMLS_CUI:C0334605 disease_ontology meningothelial meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:68944005 meningothelial meningioma (morphologic abnormality) Meningotheliomatous meningioma NCI2004_11_17:C4329 transitional meningioma DOID:7213 MSH:D008579 NCI:C4333 SNOMEDCT_US_2015_03_01:64967004 UMLS_CUI:C0334611 disease_ontology transitional (mixed) meningioma transitional meningioma (morphologic abnormality) NCI2004_11_17:C4333 transitional (mixed) meningioma SNOMEDCT_2005_07_31:64967004 transitional meningioma (morphologic abnormality) noninvasive malignant thymoma DOID:7214 NCI:C9080 Thymoma malignant Noninvasive UMLS_CUI:C0278847 disease_ontology NCI2004_11_17:C9080 Thymoma malignant Noninvasive relapsed childhood ependymoma DOID:7215 disease_ontology relapsed pediatric Ependymoma true NCI2004_11_17:C8579 relapsed pediatric Ependymoma spontaneous abortion DOID:722 disease_ontology miscarriage true gallbladder papillary carcinoma DOID:7221 NCI:C5743 Papillary carcinoma of the gallbladder UMLS_CUI:C1333753 disease_ontology NCI2004_11_17:C5743 Papillary carcinoma of the gallbladder gallbladder pleomorphic giant cell adenocarcinoma DOID:7222 Pleomorphic Giant cell adenocarcinoma of the gallbladder disease_ontology NCI2004_11_17:C5838 Pleomorphic Giant cell adenocarcinoma of the gallbladder breast giant fibroadenoma DOID:7223 Giant Fibroadenoma Giant fibroadenoma of breast (disorder) NCI:C4273 SNOMEDCT_US_2015_03_01:254846003 UMLS_CUI:C0346157 disease_ontology Giant Fibroadenoma NCI2004_11_17:C4273 Giant fibroadenoma of breast (disorder) SNOMEDCT_2005_07_31:254846003 spinal meninges cancer DOID:7224 ICD10CM:C70.1 ICD9CM:192.3 SNOMEDCT_US_2015_03_01:188320007 SNOMEDCT_US_2015_03_01:363476006 SNOMEDCT_US_2015_03_01:94069006 UMLS_CUI:C0153647 disease_ontology malignant neoplasm of spinal meninges (disorder) malignant neoplasm of spinal meninges NOS (disorder) SNOMEDCT_2005_07_31:363476006 malignant neoplasm of spinal meninges (disorder) SNOMEDCT_2005_07_31:188320007 malignant neoplasm of spinal meninges NOS (disorder) postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with IGVH SHM DOID:7230 NCI:C37201 UMLS_CUI:C1333037 disease_ontology CLL/SLL with IGVH SHM NCI2004_11_17:C37201 pediatric CNS embryonal cell carcinoma DOID:7231 Embryonal carcinoma of pediatric CNS NCI:C6208 UMLS_CUI:C1377605 disease_ontology Embryonal carcinoma of pediatric CNS NCI2004_11_17:C6208 central nervous system embryonal carcinoma DOID:7232 Embryonal carcinoma of CNS NCI:C7010 UMLS_CUI:C1333377 disease_ontology embryonal carcinoma of the central nervous system Embryonal carcinoma of CNS NCI2004_11_17:C7010 adult central nervous system embryonal carcinoma DOID:7233 Embryonal carcinoma of the adult central nervous system NCI:C5790 UMLS_CUI:C1370503 disease_ontology Embryonal carcinoma of the adult central nervous system NCI2004_11_17:C5790 pancreatic colloid cystadenocarcinoma DOID:7234 NCI:C5713 UMLS_CUI:C1335308 disease_ontology mucinous Cystadencarcinoma of pancreas NCI2004_11_17:C5713 mucinous Cystadencarcinoma of pancreas pancreatic mucinous cystadenoma DOID:7235 NCI:C41247 UMLS_CUI:C1518872 disease_ontology pancreatic mucinous cystic neoplasm pancreatic invasive mucinous cystadenocarcinoma DOID:7236 NCI:C41246 UMLS_CUI:C1518870 disease_ontology pancreatic non-invasive mucinous cystadenocarcinoma DOID:7237 NCI:C41245 UMLS_CUI:C1518874 disease_ontology AIDS-related gastric Kaposi's sarcoma AIDS-Related Kaposi's sarcoma of stomach An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. DOID:7238 disease_ontology true An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. url:http://jco.ascopubs.org/cgi/content/short/28/16/e250 AIDS-Related Kaposi's sarcoma of stomach NCI2004_11_17:C5624 female stress incontinence DOID:724 ICD9CM:625.6 NCI:C35042 SNOMEDCT_US_2015_03_01:156028007 SNOMEDCT_US_2015_03_01:198408003 SNOMEDCT_US_2015_03_01:266668007 SNOMEDCT_US_2015_03_01:60241006 Stress incontinence - female Stress incontinence - female (finding) Stress incontinence, female UMLS_CUI:C0038437 disease_ontology female urinary stress incontinence (finding) SNOMEDCT_2005_07_31:156028007 Stress incontinence - female SNOMEDCT_2005_07_31:266668007 Stress incontinence - female SNOMEDCT_2005_07_31:60241006 female urinary stress incontinence (finding) SNOMEDCT_2005_07_31:198408003 Stress incontinence - female (finding) ICD9CM_2006:625.6 Stress incontinence, female uterine corpus apoplectic leiomyoma DOID:7241 NCI:C40165 UMLS_CUI:C1519852 disease_ontology uterine corpus cellular leiomyoma DOID:7242 NCI:C40163 UMLS_CUI:C1519845 disease_ontology bladder urachal urothelial carcinoma DOID:7244 NCI:C39844 UMLS_CUI:C1511207 disease_ontology metastatic endometrial adenocarcinoma DOID:7245 disease_ontology true lymphoepithelioma-like acinar prostate adenocarcinoma DOID:7246 NCI:C39885 UMLS_CUI:C1515864 disease_ontology lymphoepithelioma-like variant acinar prostate adenocarcinoma cerebral meninges malignant neoplasm DOID:7252 disease_ontology malignant neoplasm of cerebral meninges (disorder) malignant neoplasm of cerebral meninges NOS (disorder) true SNOMEDCT_2005_07_31:363474009 malignant neoplasm of cerebral meninges (disorder) SNOMEDCT_2005_07_31:188316008 malignant neoplasm of cerebral meninges NOS (disorder) anaplastic urethra carcinoma DOID:7256 Undifferentiated carcinoma of the urethra disease_ontology true NCI2004_11_17:C6168 Undifferentiated carcinoma of the urethra gallbladder anaplastic carcinoma DOID:7262 Undifferentiated gallbladder carcinoma disease_ontology true NCI2004_11_17:C9167 Undifferentiated gallbladder carcinoma selective IgD deficiency disease DOID:7263 NCI:C27144 SNOMEDCT_US_2015_03_01:234541006 Selective IgD Immunodeficiency Selective immunoglobulin D deficiency (disorder) UMLS_CUI:C0398695 disease_ontology SNOMEDCT_2005_07_31:234541006 Selective immunoglobulin D deficiency (disorder) NCI2004_11_17:C27144 Selective IgD Immunodeficiency familiar fallopian tube carcinoma DOID:7266 NCI:C40455 UMLS_CUI:C1512418 disease_ontology lung clear cell carcinoma DOID:7267 SNOMEDCT_US_2015_03_01:254630009 UMLS_CUI:C0345959 disease_ontology solid carcinoma of lung with mucus formation DOID:7268 disease_ontology pulmonary solid adenocarcinoma with Mucin true NCI2004_11_17:C5651 pulmonary solid adenocarcinoma with Mucin cribriform variant testicular seminoma DOID:7269 NCI:C40957 UMLS_CUI:C1515292 disease_ontology premenstrual tension DOID:727 ICD10CM:N94.3 ICD9CM:625.4 MSH:D011293 SNOMEDCT_US_2015_03_01:123076003 SNOMEDCT_US_2015_03_01:156026006 SNOMEDCT_US_2015_03_01:198407008 SNOMEDCT_US_2015_03_01:82639001 UMLS_CUI:C0376356 disease_ontology adrenal gland tuberculosis DOID:7273 disease_ontology true nodular episcleritis DOID:728 ICD10CM:H15.12 ICD9CM:379.02 SNOMEDCT_US_2015_03_01:70558001 UMLS_CUI:C0155352 disease_ontology nodular episcleritis (disorder) SNOMEDCT_2005_07_31:70558001 nodular episcleritis (disorder) congenital epulis Congenital Epulides Congenital Epulis DOID:7280 MSH:D005887 NCI:C4675 SNOMEDCT_US_2015_03_01:25511009 SNOMEDCT_US_2015_03_01:360525006 UMLS_CUI:C0376319 disease_ontology Congenital Epulis NCI2004_11_17:C4675 uterine corpus adenocarcinofibroma DOID:7281 disease_ontology skene gland carcinoma DOID:6722 DOID:7284 NCI:C39863 NCI:C7371 UMLS_CUI:C1335352 UMLS_CUI:C1527427 carcinoma of the Paraurethral gland disease_ontology paraurethral gland carcinoma NCI2004_11_17:C7371 carcinoma of the Paraurethral gland secretory uterine corpus endometrioid adenocarcinoma DOID:7289 NCI:C27839 UMLS_CUI:C1336907 disease_ontology mucin-rich endometrial endometrioid adenocarcinoma DOID:7293 NCI:C8717 UMLS_CUI:C1513711 disease_ontology recurrent childhood soft tissue sarcoma DOID:7295 disease_ontology relapsed pediatric sarcoma of the soft tissue true NCI2004_11_17:C8067 relapsed pediatric sarcoma of the soft tissue nonmetastatic childhood soft tissue sarcoma DOID:7296 Non-metastatic pediatric soft tissue sarcoma disease_ontology true NCI2004_11_17:C8065 Non-metastatic pediatric soft tissue sarcoma childhood extraosseous osteosarcoma DOID:7297 NCI:C27376 UMLS_CUI:C1332968 disease_ontology pediatric extraskeletal Osteosarcoma NCI2004_11_17:C27376 pediatric extraskeletal Osteosarcoma urethral benign neoplasm DOID:730 MSH:D014523 NCI:C3428 SNOMEDCT_US_2015_03_01:126883004 UMLS_CUI:C0041971 disease_ontology neoplasm of urethra (disorder) neoplasm. urethra SNOMEDCT_2005_07_31:126883004 neoplasm of urethra (disorder) NCI2004_11_17:C3428 neoplasm. urethra inferior vena cava leiomyosarcoma DOID:7301 disease_ontology leiomyosarcoma of the Inferior Vena Cava true NCI2004_11_17:C5372 leiomyosarcoma of the Inferior Vena Cava endodermal sinus pattern testicular yolk sac tumor DOID:7302 NCI:C39927 UMLS_CUI:C1515303 disease_ontology breast carcinoma metastatic to the brain DOID:7304 disease_ontology true astroblastoma Astroblastoma (morphologic abnormality) DOID:7305 MSH:D018302 NCI:C4324 SNOMEDCT_US_2015_03_01:48952003 UMLS_CUI:C0334587 disease_ontology Astroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:48952003 anaplastic oligoastrocytoma DOID:7306 WHO grade III mixed glioma anaplastic oligoastrocytoma anaplastic oligoastrocytoma (morphologic abnormality) disease_ontology true NCI2004_11_17:C6959 WHO grade III mixed glioma SNOMEDCT_2005_07_31:253072003 anaplastic oligoastrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:22217002 anaplastic oligoastrocytoma urinary system benign neoplasm An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. DOID:731 MSH:D014571 NCI:C3431 SNOMEDCT_US_2015_03_01:126879004 SNOMEDCT_US_2015_03_01:254913005 UMLS_CUI:C0042076 disease_ontology neoplasm of urinary system (disorder) tumor of the urinary system tumor of urinary tract (disorder) urinary tract neoplasm NCI2004_11_17:C3431 tumor of the urinary system An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system CSP2005:2021-0179 urinary tract neoplasm SNOMEDCT_2005_07_31:254913005 tumor of urinary tract (disorder) SNOMEDCT_2005_07_31:126879004 neoplasm of urinary system (disorder) breast adenomyoepithelial adenosis DOID:7312 NCI:C40391 UMLS_CUI:C1511283 disease_ontology Jewett-Marshall bladder cancer DOID:7315 Jewett-Marshall stage D1 bladder cancer Jewett-Marshall stage D2 bladder cancer NCI:C9368 UMLS_CUI:C1336362 disease_ontology stage IVB urinary bladder carcinoma NCI2004_11_17:C9368 stage IVB urinary bladder carcinoma inherited neuropathy DOID:7316 disease_ontology hereditary neuropathy true CSP2005:2042-7013 hereditary neuropathy axonal neuropathy Axonal neuropathy (disorder) DOID:7319 NCI:C27301 SNOMEDCT_US_2015_03_01:60703000 UMLS_CUI:C0270921 disease_ontology Axonal neuropathy (disorder) SNOMEDCT_2005_07_31:60703000 urethral disease A urinary system disease that is located_in the urethra. DOID:732 ICD10CM:N36.9 MSH:D014522 NCI:C26903 SNOMEDCT_US_2015_03_01:197945001 SNOMEDCT_US_2015_03_01:198551002 SNOMEDCT_US_2015_03_01:4985009 UMLS_CUI:C0041969 disease_ontology disorder of urethra (disorder) urethra disease urethra disorder urethral disorder, unspecified urethral disorder, unspecified (disorder) A urinary system disease that is located_in the urethra. url:http://www.nlm.nih.gov/medlineplus/urethraldisorders.html CSP2005:3045-8915 urethra disorder SNOMEDCT_2005_07_31:197945001 urethral disorder, unspecified SNOMEDCT_2005_07_31:198551002 urethral disorder, unspecified (disorder) NCI2004_11_17:C26903 urethra disease SNOMEDCT_2005_07_31:4985009 disorder of urethra (disorder) ovarian serous cystadenofibroma DOID:7320 NCI:C40032 UMLS_CUI:C0877572 disease_ontology primary cerebral lymphoma in immunocompetent host DOID:7323 disease_ontology true hepatitis C virus related hepatocellular carcinoma DOID:7324 disease_ontology true hepatitis B virus related hepatocellular carcinoma DOID:7325 disease_ontology true cranial pseudosarcomatous fasciitis DOID:7326 NCI:C27248 UMLS_CUI:C1333162 disease_ontology pseudosarcomatous fibromatosis DOID:7327 Fasciitis - nodular ICD10CM:M72.4 NCI:C3827 Pseudosarcomatous Fasciitis Pseudosarcomatous fibromatosis Pseudosarcomatous fibromatosis (disorder) SNOMEDCT_US_2015_03_01:156729009 SNOMEDCT_US_2015_03_01:203057005 SNOMEDCT_US_2015_03_01:268106003 SNOMEDCT_US_2015_03_01:35548007 SNOMEDCT_US_2015_03_01:400138001 SNOMEDCT_US_2015_03_01:47284001 SNOMEDCT_US_2015_03_01:703616008 UMLS_CUI:C0410005 disease_ontology nodular fasciitis nodular fasciitis (disorder) Pseudosarcomatous fibromatosis (disorder) SNOMEDCT_2005_07_31:203057005 NCI2004_11_17:C3827 Pseudosarcomatous Fasciitis SNOMEDCT_2005_07_31:35548007 nodular fasciitis (disorder) Fasciitis - nodular SNOMEDCT_2005_07_31:268106003 Fasciitis - nodular SNOMEDCT_2005_07_31:156729009 MTHICD9_2006:728.79 nodular fasciitis SNOMEDCT_2005_07_31:400138001 nodular fasciitis (disorder) Pseudosarcomatous fibromatosis SNOMEDCT_2005_07_31:47284001 iris spindle cell melanoma A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. DOID:7328 NCI:C6098 UMLS_CUI:C1334287 disease_ontology A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 esophageal tuberculosis A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. DOID:7332 ICD9CM:017.8 SNOMEDCT_US_2015_03_01:15284007 UMLS_CUI:C0152902 disease_ontology tuberculosis of esophagus A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. url:http://www.springerlink.com/content/53763553187824h3/fulltext.pdf nephrogenic adenoma of urinary bladder DOID:7333 NCI:C7415 Nephrogenic adenoma of the urinary bladder UMLS_CUI:C1336892 disease_ontology NCI2004_11_17:C7415 Nephrogenic adenoma of the urinary bladder nephrogenic adenoma DOID:7334 NCI:C7413 NCI:C97097 SNOMEDCT_US_2015_03_01:78236000 UMLS_CUI:C0334039 disease_ontology extraocular extension of melanoma DOID:7335 disease_ontology true urethra cancer An urinary tract cancer that derives_from the tissues of the urethra. DOID:734 DOID:737 ICD10CM:C68.0 ICD9CM:189.3 MSH:D014523 NCI:C7507 NCI:C9106 SNOMEDCT_US_2015_03_01:154544009 SNOMEDCT_US_2015_03_01:363459007 SNOMEDCT_US_2015_03_01:94123008 UMLS_CUI:C0153620 UMLS_CUI:C0700101 cancer of urethra disease_ontology malignant tumour of urethra malignant urethral neoplasm urethral Ca SNOMEDCT_2005_07_31:154544009 malignant tumour of urethra An urinary tract cancer that derives_from the tissues of the urethra. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient NCI2004_11_17:C7507 malignant urethral neoplasm SNOMEDCT_2005_07_31:363459007 urethral Ca pediatric ovarian dysgerminoma A dysgerminoma of ovary that occurs in children. DOID:7340 NCI:C6550 UMLS_CUI:C1332988 disease_ontology A dysgerminoma of ovary that occurs in children. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 anaplastic brainstem astrocytoma DOID:7344 disease_ontology true anaplastic glioma of brain stem DOID:7345 Undifferentiated glioma of Brainstem disease_ontology true NCI2004_11_17:C7446 Undifferentiated glioma of Brainstem ovarian stromal hyperthecosis DOID:7347 NCI:C40446 UMLS_CUI:C1518743 disease_ontology metastatic neoplasm of urethra DOID:735 disease_ontology true urethra metastatic malignant neoplasm NCI2004_11_17:C27819 urethra metastatic malignant neoplasm thymic dysplasia DOID:7350 NCI:C27802 UMLS_CUI:C1331541 disease_ontology localized Askin's tumor DOID:7351 disease_ontology true diencephalic anaplastic astrocytoma DOID:7352 Undifferentiated astrocytoma of Diencephalon disease_ontology true NCI2004_11_17:C5124 Undifferentiated astrocytoma of Diencephalon rectum sarcomatoid carcinoma DOID:7356 NCI:C5556 UMLS_CUI:C1335689 disease_ontology sarcomatoid carcinoma of rectum NCI2004_11_17:C5556 sarcomatoid carcinoma of rectum rectal anaplastic carcinoma DOID:7357 Undifferentiated carcinoma of rectum disease_ontology true NCI2004_11_17:C7974 Undifferentiated carcinoma of rectum recurrent rectal cancer DOID:7358 disease_ontology recurrent Rectal carcinoma true NCI2004_11_17:C9238 recurrent Rectal carcinoma male urethral cancer DOID:736 NCI:C39867 UMLS_CUI:C1518164 disease_ontology solid pattern testicular yolk sac tumor DOID:7360 NCI:C39925 UMLS_CUI:C1515312 disease_ontology teratoma of CNS with malignant transformation DOID:7362 disease_ontology teratoma of the central nervous system with malignant Transformation true NCI2004_11_17:C7015 teratoma of the central nervous system with malignant Transformation vulvar keratinizing squamous cell carcinoma DOID:7363 NCI2009_04D:C40284 disease_ontology organic anxiety disorder DOID:7364 disease_ontology true Kimura disease DOID:7365 Kimura's disease Kimura's disease (disorder) MSH:D000796 NCI:C26867 SNOMEDCT_US_2015_03_01:254791004 SNOMEDCT_US_2015_03_01:399894006 SNOMEDCT_US_2015_03_01:69484003 UMLS_CUI:C0033838 disease_ontology Kimura's disease NCI2004_11_17:C26867 Kimura's disease (disorder) SNOMEDCT_2005_07_31:399894006 Kimura's disease SNOMEDCT_2005_07_31:254791004 Kimura's disease SNOMEDCT_2005_07_31:69484003 superficial urinary bladder cancer A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. DOID:7371 NCI:C27474 SNOMEDCT_US_2015_03_01:425231005 Superficial urinary bladder carcinoma UMLS_CUI:C1336527 disease_ontology NCI2004_11_17:C27474 Superficial urinary bladder carcinoma A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. url:http://www.malecare.com/new_page_91.htm pituitary hypoplasia DOID:7378 NCI:C27343 UMLS_CUI:C0948740 disease_ontology adrenal medulla carcinoma An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:7379 NCI:C9276 UMLS_CUI:C1334717 disease_ontology An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma female urethral cancer DOID:738 NCI:C39866 UMLS_CUI:C1517154 disease_ontology squamous cell papilloma of skin DOID:7380 NCI:C4462 Parakeratotic skin papilloma SNOMEDCT_US_2015_03_01:254661000 UMLS_CUI:C0345983 disease_ontology squamous cell papilloma of skin (disorder) SNOMEDCT_2005_07_31:254661000 squamous cell papilloma of skin (disorder) NCI2004_11_17:C4462 Parakeratotic skin papilloma lymphohistiocytoid mesothelioma DOID:7381 NCI:C27779 UMLS_CUI:C1334464 disease_ontology localized resectable adult primary hepatoma DOID:7384 disease_ontology true localized resectable adult primary liver cancer DOID:7385 disease_ontology localized Resectable adult Liver carcinoma true NCI2004_11_17:C7877 localized Resectable adult Liver carcinoma pulmonary vein leiomyosarcoma DOID:7388 NCI:C5374 UMLS_CUI:C1335575 disease_ontology leiomyosarcoma of the pulmonary Vein NCI2004_11_17:C5374 leiomyosarcoma of the pulmonary Vein pulmonary artery leiomyosarcoma DOID:7389 NCI:C5373 UMLS_CUI:C1335572 disease_ontology leiomyosarcoma of the pulmonary artery NCI2004_11_17:C5373 leiomyosarcoma of the pulmonary artery metastasis to the urethra DOID:739 disease_ontology metastatic neoplasm to the urethra secondary malignant neoplasm of urethra (disorder) true NCI2004_11_17:C7573 metastatic neoplasm to the urethra SNOMEDCT_2005_07_31:94661005 secondary malignant neoplasm of urethra (disorder) superior vena cava leiomyosarcoma DOID:7390 NCI:C6745 UMLS_CUI:C1336531 disease_ontology leiomyosarcoma of the Superior Vena Cava NCI2004_11_17:C6745 leiomyosarcoma of the Superior Vena Cava superior vena cava malignant neoplasm DOID:7391 disease_ontology malignant tumor of Superior Vena Cava true NCI2004_11_17:C5379 malignant tumor of Superior Vena Cava cerebral primitive neuroectodermal tumor DOID:7398 MSH:D018242 NCI:C4970 PNET of Cerebrum UMLS_CUI:C0751675 disease_ontology NCI2004_11_17:C4970 PNET of Cerebrum hematopoietic system disease An immune system disease that has_material_basis_in hematopoietic cells. Blood disease Blood dyscrasia NOS DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS DOID:74 Hematological disease ICD10CM:D75.9 ICD9CM:280-289.99 ICD9CM:289.9 MSH:D006402 NCI:C26323 SNOMEDCT_US_2015_03_01:154785002 SNOMEDCT_US_2015_03_01:154842002 SNOMEDCT_US_2015_03_01:191124002 SNOMEDCT_US_2015_03_01:191402006 SNOMEDCT_US_2015_03_01:191446003 SNOMEDCT_US_2015_03_01:267552000 SNOMEDCT_US_2015_03_01:267573000 SNOMEDCT_US_2015_03_01:34093004 UMLS_CUI:C0018939 blood disorder disease of hematopoietic system disease_ontology Hematological disease MTH:NOCODE Blood dyscrasia NOS MTHICD9_2006:289.9 An immune system disease that has_material_basis_in hematopoietic cells. url:http://en.wikipedia.org/wiki/Hematopathology DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS ICD9CM_2006:280-289.99 CSP2005:0427-3600 blood disorder Blood disease SNOMEDCT_2005_07_31:154785002 Nijmegen breakage syndrome Berlin breakage syndrome DOID:7400 MSH:D049932 Microcephaly, normal intelligence and immunodeficiency (disorder) NCI:C4692 OMIM mapping confirmed by DO. [SN]. OMIM:251260 SNOMEDCT_US_2015_03_01:234638009 Seemanova syndrome UMLS_CUI:C0398791 disease_ontology CSP2005:5005-0018 Seemanova syndrome Microcephaly, normal intelligence and immunodeficiency (disorder) SNOMEDCT_2005_07_31:234638009 colonic L-cell glucagon-like peptide producing tumor DOID:7401 NCI:C27447 UMLS_CUI:C3274139 disease_ontology L-cell glucagon-like peptide producing tumor DOID:7402 NCI:C27448 UMLS_CUI:C3274140 disease_ontology metastatic carcinoma to the uterine cervix DOID:7407 disease_ontology secondary carcinoma to the Cervix Uteri true NCI2004_11_17:C6334 secondary carcinoma to the Cervix Uteri vulvar keratoacanthoma-like carcinoma DOID:7408 NCI:C40288 UMLS_CUI:C1520086 disease_ontology vulvar non-keratinizing squamous cell carcinoma DOID:7409 NCI:C40285 UMLS_CUI:C1520092 disease_ontology vulvar squamous cell carcinoma with tumor giant cells DOID:7410 disease_ontology true ovarian endometrioid cystadenofibroma DOID:7411 NCI:C27288 UMLS_CUI:C1335158 disease_ontology metaplastic meningioma DOID:7419 Metaplastic meningioma disease_ontology true Metaplastic meningioma NCI2004_11_17:C6907 placental infarction DOID:7420 Placental infarct Placental infarct (disorder) Placental infarction disease_ontology true Placental infarct SNOMEDCT_2005_07_31:199628000 Placental infarct SNOMEDCT_2005_07_31:199621006 Placental infarct (disorder) SNOMEDCT_2005_07_31:268585006 Placental infarct SNOMEDCT_2005_07_31:169956001 NCI2004_11_17:C27181 Placental infarction ovarian mucinous cystic tumor with mural nodules DOID:7423 disease_ontology true cutaneous anthrax An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. DOID:7426 ICD10CM:A22.0 ICD9CM:022.0 MSH:C531621 SNOMEDCT_US_2015_03_01:84980006 UMLS_CUI:C0003177 disease_ontology An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. url:http://emedicine.medscape.com/article/212127-overview#a0104 url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous anthrax disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. DOID:7427 ICD10CM:A22 ICD10CM:A22.9 ICD9CM:022 ICD9CM:022.9 MSH:D000881 NCI:C84565 SNOMEDCT_US_2015_03_01:154295005 SNOMEDCT_US_2015_03_01:17540007 SNOMEDCT_US_2015_03_01:186304006 SNOMEDCT_US_2015_03_01:187302001 SNOMEDCT_US_2015_03_01:409498004 UMLS_CUI:C0003175 disease_ontology A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp pineal region germinoma DOID:7428 NCI:C8712 UMLS_CUI:C0854912 disease_ontology childhood brain germinoma DOID:7429 NCI:C6207 UMLS_CUI:C1332948 disease_ontology germinoma of the pediatric brain NCI2004_11_17:C6207 germinoma of the pediatric brain dermatographia An urticaria induced by stroking of the skin. DOID:743 ICD10CM:L50.3 ICD9CM:708.3 NCI:C111885 OMIM:125635 SNOMEDCT_US_2015_03_01:123093003 SNOMEDCT_US_2015_03_01:156430003 SNOMEDCT_US_2015_03_01:201263000 SNOMEDCT_US_2015_03_01:201265007 SNOMEDCT_US_2015_03_01:238685008 SNOMEDCT_US_2015_03_01:247473009 SNOMEDCT_US_2015_03_01:270885004 SNOMEDCT_US_2015_03_01:402410006 SNOMEDCT_US_2015_03_01:402601007 SNOMEDCT_US_2015_03_01:7632005 UMLS_CUI:C0343065 dermatographic urticaria dermographism disease_ontology ICD9CM_2006:708.3 dermatographic urticaria An urticaria induced by stroking of the skin. url:http://en.wikipedia.org/wiki/Dermatographic_urticaria url:www.dermnetnz.org/reactions/urticaria.html SNOMEDCT_2005_07_31:156430003 dermographism childhood germ cell brain tumor DOID:7430 NCI:C5795 UMLS_CUI:C1377598 disease_ontology germ cell neoplasm of the pediatric brain NCI2004_11_17:C5795 germ cell neoplasm of the pediatric brain polyvesicular vitelline pattern testicular yolk sac tumor DOID:7435 NCI:C39930 UMLS_CUI:C1515311 disease_ontology sarcomatoid uterine corpus endometrioid adenocarcinoma DOID:7436 NCI:C27850 UMLS_CUI:C1336913 disease_ontology uterus perivascular epithelioid cell tumor DOID:7437 NCI:C40180 UMLS_CUI:C1519862 disease_ontology uterine corpus PEComa ovarian clear cell cystadenocarcinoma DOID:7438 NCI:C7980 UMLS_CUI:C0279667 disease_ontology polyp of middle ear DOID:7439 ICD10CM:H74.4 NCI:C6933 SNOMEDCT_US_2015_03_01:155244001 SNOMEDCT_US_2015_03_01:267766007 SNOMEDCT_US_2015_03_01:73103007 UMLS_CUI:C0271466 disease_ontology polyp - middle ear polyp of middle ear (disorder) polyp of the middle ear SNOMEDCT_2005_07_31:155244001 polyp - middle ear SNOMEDCT_2005_07_31:73103007 polyp of middle ear (disorder) NCI2004_11_17:C6933 polyp of the middle ear SNOMEDCT_2005_07_31:267766007 polyp - middle ear Muscle calcification and ossification DOID:744 disease_ontology true chronic metabolic polyneuropathy DOID:7441 NCI:C35602 UMLS_CUI:C1333042 disease_ontology monoclonal gammopathy of uncertain significance DOID:7442 MGUS Monoclonal gammopathy of uncertain significance (disorder) Monoclonal gammopathy of undetermined significance (morphologic abnormality) disease_ontology Monoclonal gammopathy of uncertain significance (disorder) SNOMEDCT_2005_07_31:277577000 MGUS NCI2004_11_17:C3996 Monoclonal gammopathy of undetermined significance (morphologic abnormality) SNOMEDCT_2005_07_31:35601003 diffuse intraductal papillomatosis DOID:7444 Diffuse intraductal papillomatosis NCI:C7364 SNOMEDCT_US_2015_03_01:32296002 UMLS_CUI:C1377912 disease_ontology Diffuse intraductal papillomatosis SNOMEDCT_2005_07_31:32296002 epididymis adenomatoid tumor DOID:745 NCI:C6382 SNOMEDCT_US_2015_03_01:449052009 UMLS_CUI:C1333415 adenomatoid neoplasm of the epididymis benign Epididymal epithelial Mesothelioma disease_ontology NCI2004_11_17:C6382 benign Epididymal epithelial Mesothelioma hypogonadotropism DOID:7455 disease_ontology enterobiasis A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. DOID:7457 DOID:7458 Enterobius vermicularis infection ICD10CM:B80 MSH:D010123 Oxyuris vermicularis infection (disorder) Pinworm infection SNOMEDCT_US_2015_03_01:154415009 SNOMEDCT_US_2015_03_01:187178006 SNOMEDCT_US_2015_03_01:19722001 SNOMEDCT_US_2015_03_01:266162007 SNOMEDCT_US_2015_03_01:266222003 Threadworm infection UMLS_CUI:C0030100 disease_ontology oxyuriasis Oxyuris vermicularis infection (disorder) SNOMEDCT_2005_07_31:360417007 MTHICD9_2006:127.4 Threadworm infection A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. url:http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh acantholytic variant squamous cell breast carcinoma DOID:7459 NCI:C40359 UMLS_CUI:C1519485 disease_ontology adenomatoid tumor DOID:746 ICD10CM:D19.9 MSH:D018254 NCI:C3762 SNOMEDCT_US_2015_03_01:189835008 SNOMEDCT_US_2015_03_01:2348006 SNOMEDCT_US_2015_03_01:41183007 UMLS_CUI:C0206675 adenomatoid tumor (morphologic abnormality) adenomatoid tumor NOS (morphologic abnormality) benign localized epithelial Mesothelioma disease_ontology SNOMEDCT_2005_07_31:189835008 adenomatoid tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:2348006 adenomatoid tumor (morphologic abnormality) NCI2004_11_17:C3762 benign localized epithelial Mesothelioma spindle cell variant squamous cell breast carcinoma DOID:7460 NCI:C40358 UMLS_CUI:C1519487 disease_ontology large cell keratinizing variant squamous cell breast carcinoma DOID:7461 NCI:C40357 UMLS_CUI:C1519486 disease_ontology childhood pleomorphic rhabdomyosarcoma DOID:7463 NCI:C7959 UMLS_CUI:C0279614 childhood anaplastic Rhabdomyosarcoma disease_ontology NCI2004_11_17:C7959 childhood anaplastic Rhabdomyosarcoma chronic NK-cell lymphocytosis DOID:7465 NCI:C39591 NK-cell large granular Lymphocyte Lymphocytosis UMLS_CUI:C1512709 disease_ontology NCI2004_11_17:C39591 NK-cell large granular Lymphocyte Lymphocytosis Spitz nevus DOID:7468 Epithelioid and spindle-cell nevus desmoplastic nevus desmoplastic nevus of skin (disorder) disease_ontology true SNOMEDCT_2005_07_31:254813009 desmoplastic nevus of skin (disorder) balloon cell nevus Balloon cell nevus Balloon cell nevus (morphologic abnormality) DOID:7469 disease_ontology true Balloon cell nevus NCI2004_11_17:C4226 Balloon cell nevus (morphologic abnormality) SNOMEDCT_2005_07_31:8276007 neural nevus DOID:7470 disease_ontology neuronevus (morphologic abnormality) true SNOMEDCT_2005_07_31:17930004 neuronevus (morphologic abnormality) deep penetrating nevus DOID:7471 disease_ontology true recurrent nevus DOID:7472 disease_ontology true recurrent malignant pleural mesothelioma DOID:7473 disease_ontology relapsed malignant Pleural Mesothelioma true NCI2004_11_17:C8707 relapsed malignant Pleural Mesothelioma malignant pleural mesothelioma A pleural cancer that has_material_basis_in mesothelium cells. DOID:7474 ICD10CM:C45.0 NCI:C7376 SNOMEDCT_US_2015_03_01:109373004 SNOMEDCT_US_2015_03_01:187878009 SNOMEDCT_US_2015_03_01:254645002 UMLS_CUI:C0812413 disease_ontology malignant mesothelioma of pleura A pleural cancer that has_material_basis_in mesothelium cells. url:http://en.wikipedia.org/wiki/Mesothelioma SNOMEDCT_2005_07_31:187878009 malignant mesothelioma of pleura diverticulitis An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. DOID:7475 Diverticulitis (disorder) Diverticulitis (morphologic abnormality) Diverticulitis NOS Diverticulitis NOS (disorder) Diverticulitis unspecified (disorder) MSH:D004238 NCI:C26752 SNOMEDCT_US_2015_03_01:155779000 SNOMEDCT_US_2015_03_01:18126004 SNOMEDCT_US_2015_03_01:197095003 SNOMEDCT_US_2015_03_01:197102009 SNOMEDCT_US_2015_03_01:197103004 SNOMEDCT_US_2015_03_01:307496006 UMLS_CUI:C0012813 disease_ontology Diverticulitis (disorder) SNOMEDCT_2005_07_31:307496006 An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. url:https://en.wikipedia.org/wiki/Diverticulitis Diverticulitis unspecified (disorder) SNOMEDCT_2005_07_31:197102009 Diverticulitis NOS MTHICD9_2006:562.11 Diverticulitis (morphologic abnormality) SNOMEDCT_2005_07_31:18126004 Diverticulitis NOS (disorder) SNOMEDCT_2005_07_31:197103004 duodenal somatostatinoma DOID:7479 NCI:C27407 UMLS_CUI:C1333320 disease_ontology duodenal delta cell somatostatin producing tumor large cell carcinoma with rhabdoid phenotype DOID:7480 NCI:C6876 SNOMEDCT_US_2015_03_01:128629005 UMLS_CUI:C1265997 disease_ontology large cell carcinoma with rhabdoid phenotype (morphologic abnormality) large cell lung carcinoma with Rhabdoid Phenotype SNOMEDCT_2005_07_31:128629005 large cell carcinoma with rhabdoid phenotype (morphologic abnormality) NCI2004_11_17:C6876 large cell lung carcinoma with Rhabdoid Phenotype petrous apex meningioma DOID:7482 NCI:C5271 UMLS_CUI:C1335396 disease_ontology meningioma of the Petrous Ridge NCI2004_11_17:C5271 meningioma of the Petrous Ridge cervical keratinizing squamous cell carcinoma DOID:7483 NCI:C40187 UMLS_CUI:C1517658 disease_ontology metastatic renal cell carcinoma DOID:7486 disease_ontology metastatic renal cell cancer true NCI2004_11_17:C27806 metastatic renal cell cancer posterior urethra cancer DOID:7488 NCI:C7640 Posterior urethral malignant tumor UMLS_CUI:C0279931 disease_ontology NCI2004_11_17:C7640 Posterior urethral malignant tumor Osgood-Schlatter's disease A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. DOID:7489 MSH:D055034 NCI:C34874 Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia SNOMEDCT_US_2015_03_01:156820001 SNOMEDCT_US_2015_03_01:268124001 SNOMEDCT_US_2015_03_01:430642003 SNOMEDCT_US_2015_03_01:72047008 SNOMEDCT_US_2015_03_01:79353000 UMLS_CUI:C0029376 disease_ontology juvenile osteochondrosis of tibial tubercle A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. url:http://emedicine.medscape.com/article/827380-overview url:http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease url:http://orthoinfo.aaos.org/topic.cfm?topic=a00411 url:http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 url:http://www.medicinenet.com/osgood-schlatter_disease/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm Osteochondritis of tibial tubercle SNOMEDCT_2005_07_31:79353000 MTHICD9_2006:732.4 Osteochondrosis of proximal tibia active peptic ulcer disease DOID:749 GI Bleeding disease_ontology vulvar proximal-type epithelioid sarcoma DOID:7491 NCI:C40319 UMLS_CUI:C1520093 disease_ontology central epithelioid sarcoma DOID:7492 NCI:C27472 UMLS_CUI:C1335563 disease_ontology brain ependymoma DOID:7497 Ependymal tumor of brain Ependymoma of brain (disorder) NCI:C3861 SNOMEDCT_US_2015_03_01:254939008 UMLS_CUI:C0238029 disease_ontology Ependymal tumor of brain NCI2004_11_17:C3861 Ependymoma of brain (disorder) SNOMEDCT_2005_07_31:254939008 AIDS-related Human papillomavirus infectious disease A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. DOID:7498 disease_ontology true A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. url:http://www.aids.org/topics/human-papillomavirus-hpv/ lymphatic system disease Adenopathy An immune system disease that is located_in the lymphatic system. DOID:75 Lymphangiopathy, NOS Lymphatic disease Lymphatic disorder MSH:D008206 SNOMEDCT_US_2015_03_01:111590001 SNOMEDCT_US_2015_03_01:155452000 SNOMEDCT_US_2015_03_01:234087005 SNOMEDCT_US_2015_03_01:266326002 SNOMEDCT_US_2015_03_01:3305006 SNOMEDCT_US_2015_03_01:362971004 UMLS_CUI:C0024228 disease of lympoid system disease_ontology disorder of lymph node and lymphatics (disorder) disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease Lymphatic disease SNOMEDCT_2005_07_31:155452000 SNOMEDCT_2005_07_31:234087005 disorder of lymph node and lymphatics (disorder) Adenopathy SNOMEDCT_2005_07_31:141342003 Lymphatic disorder NCI2004_11_17:C3206 SNOMEDCT_2005_07_31:362971004 disorder of lymphatic system Lymphangiopathy, NOS SNOMEDCT_2005_07_31:3305006 An immune system disease that is located_in the lymphatic system. url:http://en.wikipedia.org/wiki/Lymphatic_disease url:http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html Lymphatic disease MTH:461 Lymphatic disease SNOMEDCT_2005_07_31:266326002 Adenopathy SNOMEDCT_2005_07_31:269044004 Lymphatic disease MTH:NOCODE SNOMEDCT_2005_07_31:111590001 disorder of lymphoid system CSP2005:0427-7757 lymphatic disorder peptic ulcer disease DOID:11466 DOID:12635 DOID:13115 DOID:750 ICD10CM:K27 ICD9CM:533 MSH:D010437 NCI:C3318 SNOMEDCT_US_2015_03_01:13200003 SNOMEDCT_US_2015_03_01:155701001 SNOMEDCT_US_2015_03_01:155710009 SNOMEDCT_US_2015_03_01:196681007 SNOMEDCT_US_2015_03_01:196697002 SNOMEDCT_US_2015_03_01:196704007 SNOMEDCT_US_2015_03_01:196705008 SNOMEDCT_US_2015_03_01:266437002 SNOMEDCT_US_2015_03_01:266501005 UMLS_CUI:C0030920 acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage AND without perforation (disorder) acute peptic ulcer without hemorrhage and without perforation disease_ontology SNOMEDCT_2005_07_31:45485004 acute peptic ulcer without hemorrhage AND without perforation (disorder) pediatric infratentorial ependymoma DOID:7501 NCI:C9041 UMLS_CUI:C0278599 disease_ontology pediatric supratentorial ependymoma DOID:7502 NCI:C6268 NCI:C6772 NCI:C9043 UMLS_CUI:C0278650 disease_ontology pediatric Cerebral Ependymoma pediatric Supratentorial Ependymoblastoma NCI2004_11_17:C6268 pediatric Cerebral Ependymoma NCI2004_11_17:C6772 pediatric Supratentorial Ependymoblastoma extrahepatic bile duct papillary adenoma DOID:7503 NCI:C5849 Papillary adenoma of the extrahepatic bile duct UMLS_CUI:C1333510 disease_ontology NCI2004_11_17:C5849 Papillary adenoma of the extrahepatic bile duct mixed embryonal carcinoma and endodermal sinus neoplasm of the testis DOID:7504 disease_ontology testicular mixed Embryonal carcinoma and Yolk Sac tumor true NCI2004_11_17:C8001 testicular mixed Embryonal carcinoma and Yolk Sac tumor small intestine neoplasm DOID:7505 NCI:C4432 SNOMEDCT_US_2015_03_01:126832004 UMLS_CUI:C0345832 disease_ontology neoplasm of small intestine (disorder) small intestinal neoplasm NCI2004_11_17:C4432 small intestinal neoplasm SNOMEDCT_2005_07_31:126832004 neoplasm of small intestine (disorder) small intestinal L-cell glucagon-like peptide producing tumor DOID:7506 NCI:C27452 UMLS_CUI:C3274143 disease_ontology malformation of placenta DOID:7507 Placenta Malformation Variation of placenta form disease_ontology true NCI2004_11_17:C27050 Placenta Malformation SNOMEDCT_2005_07_31:33552005 Variation of placenta form breast intraductal papillomatosis DOID:7511 Intraductal papillomatosis of the breast NCI:C5201 UMLS_CUI:C1334247 disease_ontology Intraductal papillomatosis of the breast NCI2004_11_17:C5201 localized Intraductal papillomatosis DOID:7512 NCI:C7365 UMLS_CUI:C1333626 disease_ontology Wolffian adnexal neoplasm DOID:7514 MSH:C536741 NCI:C40141 UMLS_CUI:C1520159 disease_ontology lumbar spinal canal and spinal cord meningioma DOID:7515 NCI:C5298 UMLS_CUI:C1334436 disease_ontology meningioma of Lumbar Spinal canal and Spinal Cord NCI2004_11_17:C5298 meningioma of Lumbar Spinal canal and Spinal Cord childhood central nervous system mixed germ cell tumor DOID:7516 NCI:C27403 UMLS_CUI:C1332956 disease_ontology central nervous system mixed germ cell tumor DOID:7517 disease_ontology mixed germ cell tumor of CNS true NCI2004_11_17:C7016 mixed germ cell tumor of CNS inhibited female orgasm DOID:7518 ICD10CM:F52.31 Inhibited female orgasm (disorder) NCI:C34958 SNOMEDCT_US_2015_03_01:191794003 SNOMEDCT_US_2015_03_01:60103007 UMLS_CUI:C0033948 disease_ontology female Orgasmic disorder NCI2004_11_17:C34958 female Orgasmic disorder Inhibited female orgasm (disorder) SNOMEDCT_2005_07_31:60103007 endocervical carcinoma DOID:7519 NCI:C28327 SNOMEDCT_US_2015_03_01:372098004 UMLS_CUI:C1299237 carcinoma of endocervix carcinoma of the Endocervix disease_ontology NCI2004_11_17:C28327 carcinoma of the Endocervix SNOMEDCT_2005_07_31:372098004 carcinoma of endocervix peptic ulcer perforation DOID:751 DOID:752 MSH:D010439 Peptic ulcer with perforation (disorder) Perforated peptic ulcer SNOMEDCT_US_2015_03_01:155703003 SNOMEDCT_US_2015_03_01:196700003 SNOMEDCT_US_2015_03_01:266502003 SNOMEDCT_US_2015_03_01:88169003 UMLS_CUI:C0030925 Unspecified peptic ulcer with perforation (disorder) acute peptic ulcer with perforation disease_ontology SNOMEDCT_2005_07_31:196700003 Unspecified peptic ulcer with perforation (disorder) Perforated peptic ulcer SNOMEDCT_2005_07_31:266502003 Perforated peptic ulcer SNOMEDCT_2005_07_31:155703003 Peptic ulcer with perforation (disorder) SNOMEDCT_2005_07_31:88169003 periductal breast myoepitheliosis DOID:7520 NCI:C40388 UMLS_CUI:C1518974 disease_ontology breast myoepitheliosis DOID:7521 NCI:C40385 UMLS_CUI:C1513799 disease_ontology pediatric infratentorial ependymoblastoma DOID:7522 NCI:C6773 UMLS_CUI:C1332972 disease_ontology metastatic neoplasm to the ciliary body DOID:7526 disease_ontology metastatic tumor to the Ciliary body true NCI2004_11_17:C8553 metastatic tumor to the Ciliary body acute gonococcal endometritis DOID:7527 Gonococcal endometritis (acute) ICD9CM:098.16 SNOMEDCT_US_2015_03_01:186913003 SNOMEDCT_US_2015_03_01:65295003 UMLS_CUI:C0153196 Uterus - acute gonorrhoea acute gonococcal endometritis (disorder) acute gonorrhea of uterus disease_ontology Gonococcal endometritis (acute) ICD9CM_2006:098.16 SNOMEDCT_2005_07_31:186913003 Uterus - acute gonorrhoea MTHICD9_2006:098.16 acute gonorrhea of uterus SNOMEDCT_2005_07_31:65295003 acute gonococcal endometritis (disorder) acute endometritis DOID:7528 NCI:C27022 SNOMEDCT_US_2015_03_01:155976002 SNOMEDCT_US_2015_03_01:67667007 UMLS_CUI:C0238103 disease_ontology anal gland adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. DOID:7531 NCI:C5609 SNOMEDCT_US_2015_03_01:128655006 UMLS_CUI:C1266027 adenocarcinoma of anal ducts adenocarcinoma of anal gland anal glands adenocarcinoma disease_ontology SNOMEDCT_2005_07_31:128655006 adenocarcinoma of anal ducts NCI2004_11_17:C5609 anal glands adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. url:http://en.wikipedia.org/wiki/Adenocarcinoma squamous papillomatosis DOID:7532 NCI:C9009 SNOMEDCT_US_2015_03_01:82049002 UMLS_CUI:C1378340 disease_ontology subareolar duct papillomatosis DOID:7533 NCI:C9008 Subareolar duct papillomatosis disease_ontology SNOMEDCT_2005_07_31:65787003 Subareolar duct papillomatosis NCI2004_11_17:C9008 Subareolar duct papillomatosis breast cystic hypersecretory carcinoma DOID:7537 cystic hypersecretory carcinoma of the breast cystic hypersecretory duct carcinoma of the breast disease_ontology NCI2004_11_17:C6869 cystic hypersecretory duct carcinoma of the breast breast ductal adenoma DOID:7538 NCI:C40384 UMLS_CUI:C1511307 disease_ontology pregnancy adenoma DOID:7539 Lactating adenoma (morphologic abnormality) NCI:C9473 SNOMEDCT_US_2015_03_01:128651002 UMLS_CUI:C1266023 disease_ontology Lactating adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128651002 bladder tuberculosis An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. DOID:754 ICD10CM:A18.12 ICD9CM:016.1 ICD9CM:016.10 SNOMEDCT_US_2015_03_01:186237005 SNOMEDCT_US_2015_03_01:32268008 Tuberculosis of bladder (disorder) Tuberculosis of bladder, unspecified examination Tuberculous cystitis UMLS_CUI:C0152793 disease_ontology An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf SNOMEDCT_2005_07_31:32268008 Tuberculosis of bladder (disorder) ICD9CM_2006:016.10 Tuberculosis of bladder, unspecified examination SNOMEDCT_2005_07_31:186237005 Tuberculous cystitis breast apocrine adenoma DOID:7540 NCI:C40383 UMLS_CUI:C1388299 disease_ontology mixed epithelial/mesenchymal metaplastic breast carcinoma DOID:7541 NCI:C40364 UMLS_CUI:C1513365 disease_ontology osteosarcoma arising in bone Paget's disease DOID:7542 NCI:C6469 Osteosarcoma Arising in osseous Paget's disease UMLS_CUI:C1335148 disease_ontology osteosarcoma arising in bone Paget disease NCI2004_11_17:C6469 Osteosarcoma Arising in osseous Paget's disease recurrent squamous cell carcinoma of the esophagus DOID:7543 disease_ontology recurrent squamous cell carcinoma of esophagus true NCI2004_11_17:C8633 recurrent squamous cell carcinoma of esophagus recurrent esophagus cancer DOID:7544 disease_ontology relapsed carcinoma of the esophagus true NCI2004_11_17:C3999 relapsed carcinoma of the esophagus ceruminoma Ceruminous adenoma (disorder) Ceruminous adenoma (morphologic abnormality) DOID:7549 SNOMEDCT_US_2015_03_01:403945001 SNOMEDCT_US_2015_03_01:52707009 UMLS_CUI:C0334352 disease_ontology Ceruminous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:52707009 Ceruminous adenoma (disorder) SNOMEDCT_2005_07_31:403945001 gonorrhea A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. DOID:10409 DOID:13557 DOID:7551 ICD10CM:A54 ICD10CM:A54.9 ICD9CM:098 ICD9CM:098.2 ICD9CM:098.32 MSH:D006069 NCI:C35730 NCI:C92950 SNOMEDCT_US_2015_03_01:154387008 SNOMEDCT_US_2015_03_01:15628003 SNOMEDCT_US_2015_03_01:186943001 SNOMEDCT_US_2015_03_01:187361005 SNOMEDCT_US_2015_03_01:266142004 SNOMEDCT_US_2015_03_01:60893000 UMLS_CUI:C0018081 UMLS_CUI:C0153199 UMLS_CUI:C0153203 chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract disease_ontology A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. url:http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7552 DOID:7553 DOID:7800 Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements NCI:C39824 UMLS_CUI:C1512743 disease_ontology Paget's disease and intraductal carcinoma of breast DOID:7554 Paget's disease and intraductal carcinoma of breast Paget's disease and intraductal carcinoma of breast (morphologic abnormality) Paget's disease of the breast with Intraductal carcinoma disease_ontology true Paget's disease and intraductal carcinoma of breast SNOMEDCT_2005_07_31:189714001 NCI2004_11_17:C4019 Paget's disease of the breast with Intraductal carcinoma Paget's disease and intraductal carcinoma of breast (morphologic abnormality) SNOMEDCT_2005_07_31:54666007 HIV leukoencephalopathy A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. DOID:7555 Human immunodefiency virus leukoencephalopathy (disorder) disease_ontology true A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. url:http://emedicine.medscape.com/article/1167145-overview url:http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy Human immunodefiency virus leukoencephalopathy (disorder) SNOMEDCT_2005_07_31:230180003 glossopharyngeal motor neuropathy DOID:7558 MSH:D020435 NCI:C27212 UMLS_CUI:C0751942 disease_ontology asymmetric motor neuropathy DOID:7559 NCI:C27953 UMLS_CUI:C1332341 disease_ontology vulvar eccrine porocarcinoma DOID:7565 NCI:C40306 UMLS_CUI:C1520081 disease_ontology eccrine porocarcinoma DOID:7566 Eccrine porocarcinoma of skin (disorder) MSH:D057090 NCI:C5560 Porocarcinoma SNOMEDCT_US_2015_03_01:128685001 SNOMEDCT_US_2015_03_01:254708001 UMLS_CUI:C1266065 disease_ontology malignant Eccrine Poroma Eccrine porocarcinoma of skin (disorder) SNOMEDCT_2005_07_31:254708001 NCI2004_11_17:C5560 malignant Eccrine Poroma Porocarcinoma SNOMEDCT_2005_07_31:128685001 vulvar clear cell hidradenocarcinoma DOID:7567 NCI:C40307 UMLS_CUI:C1520076 disease_ontology adult brain meningioma DOID:7568 disease_ontology true thyrotoxicosis with toxic single thyroid nodule DOID:757 disease_ontology true malignant cystic nephroma DOID:7571 disease_ontology malignant Multilocular cystic Nephroma malignant cystic Nephroma malignant multilocular cystic nephroma SNOMEDCT_2005_07_31:128759009 malignant multilocular cystic nephroma NCI2004_11_17:C7505 malignant cystic Nephroma NCI2004_11_17:C6898 malignant Multilocular cystic Nephroma pancreatic intraductal papillary-colloid carcinoma DOID:7574 Intraductal Papillary-mucinous carcinoma of pancreas NCI:C5725 UMLS_CUI:C1335304 disease_ontology Intraductal Papillary-mucinous carcinoma of pancreas NCI2004_11_17:C5725 pancreatic intraductal papillary-mucinous neoplasm DOID:7575 NCI:C38342 UMLS_CUI:C1518869 disease_ontology metastatic pancreatic adenocarcinoma DOID:7576 disease_ontology true pancreatic foamy gland adenocarcinoma DOID:7577 NCI:C37256 UMLS_CUI:C1335303 disease_ontology breast scirrhous carcinoma DOID:7578 Infiltrating carcinoma of breast with Fibrotic Stroma NCI:C7362 SNOMEDCT_US_2015_03_01:254839007 Scirrhous carcinoma of breast (disorder) UMLS_CUI:C0346151 disease_ontology scirrhous carcinoma of breast SNOMEDCT_2005_07_31:254839007 Scirrhous carcinoma of breast (disorder) Infiltrating carcinoma of breast with Fibrotic Stroma NCI2004_11_17:C7362 situs inversus Complete transposition (morphologic abnormality) DOID:758 ICD10CM:Q89.3 ICD9CM:759.3 Laterality sequence (disorder) MSH:D012857 NCI:C87121 OMIM mapping confirmed by DO. [LS]. OMIM:270100 SNOMEDCT_US_2015_03_01:157025003 SNOMEDCT_US_2015_03_01:157033002 SNOMEDCT_US_2015_03_01:205765000 SNOMEDCT_US_2015_03_01:205770007 SNOMEDCT_US_2015_03_01:254257004 SNOMEDCT_US_2015_03_01:268359006 SNOMEDCT_US_2015_03_01:27317008 SNOMEDCT_US_2015_03_01:43876007 UMLS_CUI:C0037221 disease_ontology situs inversus viscerum (disorder) Laterality sequence (disorder) SNOMEDCT_2005_07_31:24614000 Complete transposition (morphologic abnormality) SNOMEDCT_2005_07_31:27317008 SNOMEDCT_2005_07_31:43876007 situs inversus viscerum (disorder) psychogenic depressive psychosis DOID:7581 Depressive type psychosis Severe major depression with psychotic features (disorder) disease_ontology psychotic depression true SNOMEDCT_2005_07_31:73867007 Severe major depression with psychotic features (disorder) CSP2005:2483-6684 psychotic depression CSP2005:2484-8182 psychotic depression Depressive type psychosis ICD9CM_2006:298.0 glottis verrucous carcinoma DOID:7583 Glottic verrucous carcinoma NCI:C8189 UMLS_CUI:C0280329 disease_ontology verrucous carcinoma of glottis Glottic verrucous carcinoma NCI2004_11_17:C8189 subglottis verrucous carcinoma DOID:7584 NCI:C8190 UMLS_CUI:C0280330 disease_ontology verrucous carcinoma of Subglottis verrucous carcinoma of the subglottis NCI2004_11_17:C8190 verrucous carcinoma of Subglottis subglottis squamous cell carcinoma DOID:7585 Epidermoid carcinoma of the Subglottis NCI:C8187 UMLS_CUI:C0280326 disease_ontology Epidermoid carcinoma of the Subglottis NCI2004_11_17:C8187 supraglottis verrucous carcinoma DOID:7586 NCI:C8191 UMLS_CUI:C0280331 disease_ontology verrucous carcinoma of Supraglottis verrucous carcinoma of the supraglottis NCI2004_11_17:C8191 verrucous carcinoma of Supraglottis supraglottis squamous cell carcinoma DOID:7587 Epidermoid carcinoma of the Supraglottis NCI:C4945 UMLS_CUI:C0749163 disease_ontology Epidermoid carcinoma of the Supraglottis NCI2004_11_17:C4945 mixed endodermal sinus neoplasm and teratoma of the testis DOID:7588 disease_ontology mixed Yolk Sac tumor and teratoma of testis true NCI2004_11_17:C8002 mixed Yolk Sac tumor and teratoma of testis ovarian dermoid cyst with melanocytic nevus DOID:7589 disease_ontology true congenital disorder DOID:759 congenital abnormality disease_ontology true ovarian dermoid cyst with secondary melanocytic lesion DOID:7590 disease_ontology true gestational ovarian choriocarcinoma DOID:7591 NCI:C40442 UMLS_CUI:C1517538 disease_ontology recurrent pediatric medulloblastoma DOID:7593 disease_ontology relapsed pediatric Medulloblastoma true NCI2004_11_17:C6774 relapsed pediatric Medulloblastoma asbestos-related lung carcinoma DOID:7596 NCI:C27925 UMLS_CUI:C1332337 disease_ontology cervical lymphoepithelioma-like carcinoma DOID:7598 NCI:C40193 UMLS_CUI:C1516418 disease_ontology lymphoepithelioma-like thymic carcinoma DOID:7599 Lymphoepithelioma-like carcinoma of the Thymus NCI:C7998 UMLS_CUI:C0279706 disease_ontology Lymphoepithelioma-like carcinoma of the Thymus NCI2004_11_17:C7998 stomach disease A gastrointestinal system disease that is located_in the stomach. DOID:76 Gastropathy (disorder) MSH:D013272 NCI:C26886 SNOMEDCT_US_2015_03_01:155671005 SNOMEDCT_US_2015_03_01:183927002 SNOMEDCT_US_2015_03_01:196598004 SNOMEDCT_US_2015_03_01:266497000 SNOMEDCT_US_2015_03_01:29384001 UMLS_CUI:C0038354 disease_ontology gastric disease stomach disorder Gastropathy (disorder) SNOMEDCT_2005_07_31:183927002 NCI2004_11_17:C26886 stomach disorder SNOMEDCT_2005_07_31:155671005 gastric disease A gastrointestinal system disease that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_disease infiltrating bladder lymphoepithelioma-like carcinoma DOID:7600 NCI:C39821 UMLS_CUI:C1512736 disease_ontology advanced malignant pleural mesothelioma Advanced malignant Mesothelioma of Pleura DOID:7601 disease_ontology true Advanced malignant Mesothelioma of Pleura NCI2004_11_17:C8706 intracortical osteogenic sarcoma DOID:7602 Intracortical osteosarcoma (morphologic abnormality) NCI:C35870 SNOMEDCT_US_2015_03_01:128770002 SNOMEDCT_US_2015_03_01:128774006 UMLS_CUI:C1266166 disease_ontology Intracortical osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128774006 fibrosarcomatous osteosarcoma DOID:7603 Fibroblastic osteosarcoma (morphologic abnormality) Fibrosarcomatous Osteogenic sarcoma NCI:C4020 SNOMEDCT_US_2015_03_01:12690005 UMLS_CUI:C0279602 disease_ontology Fibrosarcomatous Osteogenic sarcoma NCI2004_11_17:C4020 Fibroblastic osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:12690005 chief cell adenoma Chief cell adenoma of Parathyroid gland DOID:7607 NCI:C4154 SNOMEDCT_US_2015_03_01:12205003 UMLS_CUI:C0334320 disease_ontology Chief cell adenoma of Parathyroid gland NCI2004_11_17:C4154 parathyroid adenoma DOID:7608 MSH:D010282 NCI:C3916 SNOMEDCT_US_2015_03_01:128474007 UMLS_CUI:C0262587 adenoma of parathyroid adenoma of the Parathyroid gland disease_ontology NCI2004_11_17:C3916 adenoma of the Parathyroid gland parathyroid transitional clear cell adenoma Clear cell adenoma of the Parathyroid DOID:7609 NCI:C7993 UMLS_CUI:C0279700 disease_ontology Clear cell adenoma of the Parathyroid NCI2004_11_17:C7993 meningococcal endocarditis DOID:761 Meningococcal endocarditis (disorder) disease_ontology true Meningococcal endocarditis (disorder) SNOMEDCT_2005_07_31:34845009 mixed cell type adenoma of parathyroid DOID:7610 NCI:C7994 UMLS_CUI:C0279701 disease_ontology mixed cell type adenoma of the Parathyroid gland NCI2004_11_17:C7994 mixed cell type adenoma of the Parathyroid gland parathyroid oncocytic adenoma DOID:7611 NCI:C27393 UMLS_CUI:C1335351 disease_ontology childhood intracortical osteosarcoma DOID:7612 NCI:C6590 UMLS_CUI:C1332974 disease_ontology sarcomatosis of the meninges DOID:7613 Meningeal sarcomatosis (morphologic abnormality) NCI:C4334 SNOMEDCT_US_2015_03_01:14494009 UMLS_CUI:C0334612 disease_ontology sarcomatosis of meninges Meningeal sarcomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:14494009 NCI2004_11_17:C4334 sarcomatosis of meninges meninges sarcoma DOID:7614 Meningeal sarcoma NCI:C4073 SNOMEDCT_US_2015_03_01:277996009 SNOMEDCT_US_2015_03_01:78303004 UMLS_CUI:C0302327 disease_ontology sarcoma of meninges Meningeal sarcoma SNOMEDCT_2005_07_31:277996009 NCI2004_11_17:C4073 sarcoma of meninges Meningeal sarcoma SNOMEDCT_2005_07_31:78303004 sarcomatosis A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. DOID:7615 NCI:C4243 SNOMEDCT_US_2015_03_01:189765009 SNOMEDCT_US_2015_03_01:9395006 UMLS_CUI:C0334451 disease_ontology sarcomatosis (morphologic abnormality) sarcomatosis NOS (morphologic abnormality) A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss= SNOMEDCT_2005_07_31:189765009 sarcomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:9395006 sarcomatosis (morphologic abnormality) bacterial endocarditis Bacterial endocarditis Bacterial endocarditis (& [acute] or [subacute]) Bacterial endocarditis (disorder) Bacterial endocarditis (disorder) [Ambiguous] DOID:14105 DOID:762 Endocarditis, infective NOS acute and subacute bacterial endocarditis acute and subacute bacterial endocarditis (disorder) acute and subacute bacterial endocarditis NOS (disorder) bacterial endocarditis disease_ontology true CSP2005:1393-3487 bacterial endocarditis SNOMEDCT_2005_07_31:194925001 acute and subacute bacterial endocarditis NOS (disorder) Bacterial endocarditis (disorder) SNOMEDCT_2005_07_31:301183007 Endocarditis, infective NOS MTHICD9_2006:421.0 Bacterial endocarditis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:50194006 Bacterial endocarditis SNOMEDCT_2005_07_31:194922003 Bacterial endocarditis (& [acute] or [subacute]) SNOMEDCT_2005_07_31:194922003 SNOMEDCT_2005_07_31:266237004 acute and subacute bacterial endocarditis (disorder) meningococcal carditis DOID:763 Meningococcal carditis (disorder) Meningococcal carditis NOS (disorder) Meningococcal carditis unspecified (disorder) Meningococcal carditis, unspecified disease_ontology true Meningococcal carditis (disorder) SNOMEDCT_2005_07_31:33618002 Meningococcal carditis unspecified (disorder) SNOMEDCT_2005_07_31:186367002 ICD9CM_2006:036.40 Meningococcal carditis, unspecified Meningococcal carditis NOS (disorder) SNOMEDCT_2005_07_31:186371004 adult ependymoblastoma DOID:7631 NCI:C8290 UMLS_CUI:C0281330 disease_ontology cowper gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. DOID:7632 NCI:C39864 UMLS_CUI:C1516284 disease_ontology A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. url:http://en.wikipedia.org/wiki/Cowper_gland macular holes DOID:7633 MSH:D012167 Macular Hole Macular hole Macular hole (disorder) NCI:C34795 SNOMEDCT_US_2015_03_01:193388002 SNOMEDCT_US_2015_03_01:232006002 UMLS_CUI:C0024441 disease_ontology Macular hole SNOMEDCT_2005_07_31:193388002 Macular hole (disorder) SNOMEDCT_2005_07_31:232006002 Macular Hole NCI2004_11_17:C34795 suprasellar meningioma DOID:7634 NCI:C6776 UMLS_CUI:C1336535 disease_ontology gasserian ganglion meningioma DOID:7635 NCI:C6779 UMLS_CUI:C1333760 disease_ontology meningioma of Gasserian Ganglion NCI2004_11_17:C6779 meningioma of Gasserian Ganglion recurrent cancer of small Intestine DOID:7636 disease_ontology relapsed carcinoma of the small Intestine true NCI2004_11_17:C7894 relapsed carcinoma of the small Intestine Paget's disease and invasive ductal carcinoma of breast DOID:7638 Paget's disease of breast with Infiltrating ductal carcinoma disease_ontology true NCI2004_11_17:C7951 Paget's disease of breast with Infiltrating ductal carcinoma malignant granular cell skin tumor DOID:7639 NCI:C5614 UMLS_CUI:C1334575 disease_ontology malignant granular cell skin neoplasm malignant granular cell tumor of skin NCI2004_11_17:C5614 malignant granular cell tumor of skin meningococcal pericarditis DOID:764 Meningococcal pericarditis (disorder) disease_ontology true Meningococcal pericarditis (disorder) SNOMEDCT_2005_07_31:66704002 non-resectable small intestine carcinoma DOID:7641 Unresectable Small Intestine carcinoma disease_ontology true NCI2004_11_17:C8638 Unresectable Small Intestine carcinoma cholangiolocellular carcinoma DOID:7642 NCI:C41617 UMLS_CUI:C1516490 disease_ontology acantholytic squamous cell skin carcinoma Acantholytic squamous cell carcinoma of skin (disorder) Acantholytic squamous cell skin carcinoma DOID:7643 NCI:C4460 SNOMEDCT_US_2015_03_01:254654004 UMLS_CUI:C0345979 acantholytic squamous cell carcinoma of skin disease_ontology Acantholytic squamous cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254654004 Acantholytic squamous cell skin carcinoma NCI2004_11_17:C4460 multiple spinal canal and spinal cord meningioma DOID:7646 Multiple meningiomas of the Spinal canal and Spinal Cord NCI:C5275 UMLS_CUI:C1334825 disease_ontology Multiple meningiomas of the Spinal canal and Spinal Cord NCI2004_11_17:C5275 pulmonary type ovarian small cell carcinoma DOID:7650 NCI:C40440 UMLS_CUI:C1518737 disease_ontology hypercalcemic type ovarian small cell carcinoma DOID:7651 NCI:C40439 UMLS_CUI:C1518736 disease_ontology rare cancer-associated syndrome DOID:7652 disease_ontology true adult infiltrating astrocytic neoplasm DOID:7656 NCI:C8289 UMLS_CUI:C0281329 adult Infiltrating Astrocytic tumor adult Infiltrating astrocytoma disease_ontology NCI2004_11_17:C8289 adult Infiltrating Astrocytic tumor MTH:NOCODE adult Infiltrating astrocytoma anaplastic astrocytoma of adult DOID:7657 Undifferentiated astrocytoma of adult disease_ontology true NCI2004_11_17:C8257 Undifferentiated astrocytoma of adult endometrial mixed adenocarcinoma DOID:7664 NCI:C40153 UMLS_CUI:C1516856 disease_ontology non-gestational ovarian choriocarcinoma DOID:7665 NCI:C39991 UMLS_CUI:C1518355 disease_ontology muscular atrophy Amyotrophia NOS Amyotrophia NOS (disorder) DOID:767 MSH:D009133 Muscle atrophy (disorder) Muscle wasting Muscular atrophy NCI:C94834 SNOMEDCT_US_2015_03_01:155014006 SNOMEDCT_US_2015_03_01:156721007 SNOMEDCT_US_2015_03_01:203036002 SNOMEDCT_US_2015_03_01:249827008 SNOMEDCT_US_2015_03_01:267693003 SNOMEDCT_US_2015_03_01:268104000 SNOMEDCT_US_2015_03_01:88092000 UMLS_CUI:C0026846 Wasting - muscle disease_ontology Muscle wasting SNOMEDCT_2005_07_31:249827008 Amyotrophia NOS (disorder) SNOMEDCT_2005_07_31:203036002 Muscular atrophy SNOMEDCT_2005_07_31:155014006 SNOMEDCT_2005_07_31:156721007 Wasting - muscle SNOMEDCT_2005_07_31:268104000 Wasting - muscle Amyotrophia NOS MTHICD9_2006:728.2 Muscle atrophy (disorder) SNOMEDCT_2005_07_31:88092000 Muscular atrophy SNOMEDCT_2005_07_31:267693003 recurrent penis cancer DOID:7671 disease_ontology relapsed carcinoma of penis true NCI2004_11_17:C7870 relapsed carcinoma of penis regressing non-cutaneous melanoma DOID:7672 disease_ontology true testicular fibroma DOID:7675 NCI:C39951 UMLS_CUI:C1515282 disease_ontology testicular thecoma DOID:7676 NCI:C39952 UMLS_CUI:C1515299 disease_ontology bone metastatic Ewing's sarcoma DOID:7677 disease_ontology metastatic Skeletal Ewing's sarcoma true NCI2004_11_17:C6621 metastatic Skeletal Ewing's sarcoma sphenoid sinus inverted papilloma DOID:7678 Inverted papilloma of the Sphenoid sinus NCI:C6841 UMLS_CUI:C1336037 disease_ontology Inverted papilloma of the Sphenoid sinus NCI2004_11_17:C6841 sphenoid sinus Schneiderian papilloma DOID:7679 NCI:C6838 Schneiderian papilloma of the Sphenoid sinus UMLS_CUI:C1336038 disease_ontology NCI2004_11_17:C6838 Schneiderian papilloma of the Sphenoid sinus retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. DOID:768 MSH:D012175 NCI:C6956 NCI:C7541 OMIM mapping confirmed by DO. [LS]. OMIM:180200 RB RB - Retinoblastoma SNOMEDCT_US_2015_03_01:134191003 SNOMEDCT_US_2015_03_01:154553002 SNOMEDCT_US_2015_03_01:189934006 SNOMEDCT_US_2015_03_01:189935007 SNOMEDCT_US_2015_03_01:19906005 SNOMEDCT_US_2015_03_01:269614001 SNOMEDCT_US_2015_03_01:370967009 UMLS_CUI:C0035335 disease_ontology neuroblastoma of Retina NCI2004_11_17:C7541 RB RB - Retinoblastoma SNOMEDCT_2005_07_31:134191003 NCI2004_11_17:C6956 neuroblastoma of Retina A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. url:http://www.cancer.gov/cancertopics/types/retinoblastoma mixed choriocarcinoma and teratoma of the testis DOID:7681 disease_ontology mixed Choriocarcinoma and teratoma of testis true NCI2004_11_17:C6349 mixed Choriocarcinoma and teratoma of testis dissecting aortic aneurysm DOID:7683 disease_ontology true maxillary sinus adenocarcinoma DOID:7684 NCI:C6240 UMLS_CUI:C1334642 adenocarcinoma of maxillary sinus adenocarcinoma of the maxillary sinus disease_ontology NCI2004_11_17:C6240 adenocarcinoma of the maxillary sinus pancreatic non-invasive intraductal papillary-mucinous carcinoma DOID:7685 NCI:C41251 UMLS_CUI:C1518873 disease_ontology leptomeninges sarcoma DOID:7689 Leptomeningeal sarcoma NCI:C8312 SNOMEDCT_US_2015_03_01:78303004 UMLS_CUI:C1384416 disease_ontology sarcoma of Leptomeninges Leptomeningeal sarcoma SNOMEDCT_2005_07_31:78303004 NCI2004_11_17:C8312 sarcoma of Leptomeninges neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells. DOID:769 EFO:0000621 MSH:D009447 NCI:C3270 OMIM:256700 OMIM:610317 OMIM:613013 OMIM:613014 OMIM:613015 OMIM:613016 ORDO:635 SNOMEDCT_US_2015_03_01:189931003 SNOMEDCT_US_2015_03_01:269507008 SNOMEDCT_US_2015_03_01:432328008 SNOMEDCT_US_2015_03_01:87364003 UMLS_CUI:C0027819 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology neuroblastoma (Schwannian Stroma-Poor) An autonomic nervous system neoplasm that derives_from immature nerve cells. url:http://www.cancer.gov/cancertopics/types/neuroblastoma NCI2004_11_17:C3270 neuroblastoma (Schwannian Stroma-Poor) abdominal aortic aneurysm AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 An aortic aneurysm that is located_in the abdominal aorta. DOID:7693 EFO:0004214 MSH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 SNOMEDCT_US_2015_03_01:155422008 SNOMEDCT_US_2015_03_01:233985008 UMLS_CUI:C0162871 disease_ontology An aortic aneurysm that is located_in the abdominal aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm bladder urachal adenocarcinoma DOID:7694 NCI:C39843 UMLS_CUI:C1511204 disease_ontology lung hilum cancer DOID:7696 SNOMEDCT_US_2015_03_01:93827000 UMLS_CUI:C0346601 disease_ontology malignant tumor of lung Hilum primary malignant neoplasm of hilus of lung (disorder) SNOMEDCT_2005_07_31:93827000 primary malignant neoplasm of hilus of lung (disorder) NCI2004_11_17:C4566 malignant tumor of lung Hilum pancreatic ACTH hormone producing tumor DOID:7697 NCI:C27466 UMLS_CUI:C1335300 disease_ontology pancreatic Adrenocorticotropic Hormone Producing tumor NCI2004_11_17:C27466 pancreatic Adrenocorticotropic Hormone Producing tumor non-functioning pancreatic endocrine tumor DOID:7698 MSH:C536126 NCI:C45837 UMLS_CUI:C1334977 disease_ontology gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract. DOID:27 DOID:77 DOID:944 GIT disease Gastroenteropathy ICD10CM:K92.9 ICD9CM:520-579.99 MSH:D004066 SNOMEDCT_US_2015_03_01:155629009 SNOMEDCT_US_2015_03_01:155847001 SNOMEDCT_US_2015_03_01:197575000 SNOMEDCT_US_2015_03_01:266483008 SNOMEDCT_US_2015_03_01:53619000 UMLS_CUI:C0012242 alimentary system disease digestive system disorder disease_ontology gastrointestinal disease gastrointestinal disorder A disease of anatomical entity that is located_in the gastrointestinal tract. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract Gastroenteropathy SNOMEDCT_2005_07_31:25374005 CSP2005:1248-3545 gastrointestinal disorder GIT disease SNOMEDCT_2005_07_31:53619000 AIDS-related oropharyngeal candidiasis An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. DOID:7702 disease_ontology true An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. url:http://en.wikipedia.org/wiki/Candidiasis human papilloma virus related endocervical adenocarcinoma A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. DOID:7704 HPV-Related Endocervical adenocarcinoma disease_ontology true A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html url:http://www.ncbi.nlm.nih.gov/pubmed/18813124 HPV-Related Endocervical adenocarcinoma NCI2004_11_17:C27677 Cytomegalovirus esophagitis A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. CMV esophagitis DOID:7706 disease_ontology true A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. url:http://emedicine.medscape.com/article/173272-overview rectum signet ring adenocarcinoma DOID:7707 NCI:C9168 Signet Ring cell adenocarcinoma of rectum UMLS_CUI:C0279654 disease_ontology NCI2004_11_17:C9168 Signet Ring cell adenocarcinoma of rectum perianal skin Paget's disease DOID:7708 NCI:C7476 UMLS_CUI:C1332270 disease_ontology perianal skin Paget disease retinal cell cancer A malignant neoplasm that derives_from the retina. DOID:771 NCI:C7061 UMLS_CUI:C1335765 disease_ontology A malignant neoplasm that derives_from the retina. url:http://www.wrongdiagnosis.com/medical/retinal_cancer.htm metastatic extraskeletal chondrosarcoma DOID:7710 disease_ontology metastatic extraosseous chondrosarcoma true NCI2004_11_17:C8804 metastatic extraosseous chondrosarcoma recurrent adult soft tissue sarcoma An adult sarcoma of soft tissue that derives_form the soft tissues of the body. DOID:7712 disease_ontology relapsed adult sarcoma of the soft tissue true An adult sarcoma of soft tissue that derives_form the soft tissues of the body. URL:http://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient NCI2004_11_17:C7822 relapsed adult sarcoma of the soft tissue tuberculum sellae meningioma DOID:7713 NCI:C5284 UMLS_CUI:C1336829 disease_ontology meningioma of the Tuberculum Sellae NCI2004_11_17:C5284 meningioma of the Tuberculum Sellae metastatic malignant hemangiopericytoma DOID:7714 disease_ontology true mixed ductal-endocrine carcinoma DOID:7716 NCI:C6879 SNOMEDCT_US_2015_03_01:396892009 SNOMEDCT_US_2015_03_01:999000 UMLS_CUI:C1301048 disease_ontology colloid carcinoma of the pancreas DOID:7717 NCI:C37214 UMLS_CUI:C1333081 disease_ontology osteoclast-like giant cell neoplasm of the pancreas DOID:7718 Osteoclast-like Giant cell neoplasm of pancreas disease_ontology NCI2004_11_17:C5723 Osteoclast-like Giant cell neoplasm of pancreas metastasis to the retina DOID:772 disease_ontology metastatic tumor to the Retina true NCI2004_11_17:C8555 metastatic tumor to the Retina generalized convulsive epilepsy DOID:13426 DOID:7724 Generalized convulsive epilepsy, with intractable epilepsy disease_ontology true epilepsy with generalized tonic-clonic seizures An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. DOID:7725 Epileptic seizures, tonic-clonic Grand Mal epilepsy MSH:D004830 NCI:C3022 SNOMEDCT_US_2015_03_01:352818000 Tonic-clonic epilepsy (disorder) UMLS_CUI:C0014549 disease_ontology tonic-clonic epilepsy Epileptic seizures, tonic-clonic MTHICD9_2006:345.1 Grand Mal epilepsy NCI2004_11_17:C3022 SNOMEDCT_2005_07_31:352818000 Tonic-clonic epilepsy (disorder) An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org chronic allograft arteriopathy DOID:7728 disease_ontology true acinar cell cystadenocarcinoma DOID:7729 NCI:C3874 NCI:C5727 SNOMEDCT_US_2015_03_01:128703004 UMLS_CUI:C1266087 acinar cell cystadenocarcinoma (morphologic abnormality) disease_ontology pancreatic acinar cell cystadenocarcinoma SNOMEDCT_2005_07_31:128703004 acinar cell cystadenocarcinoma (morphologic abnormality) NCI2004_11_17:C5727 pancreatic acinar cell cystadenocarcinoma metastasis to eye DOID:773 disease_ontology metastatic tumor to the eye secondary malignant neoplasm of eye (disorder) true NCI2004_11_17:C4586 metastatic tumor to the eye SNOMEDCT_2005_07_31:94292003 secondary malignant neoplasm of eye (disorder) childhood malignant hemangiopericytoma DOID:7731 NCI:C8090 UMLS_CUI:C0279983 disease_ontology malignant pediatric hemangiopericytoma NCI2004_11_17:C8090 malignant pediatric hemangiopericytoma childhood malignant schwannoma DOID:7732 NCI:C8094 UMLS_CUI:C0279987 disease_ontology pediatric MPNST NCI2004_11_17:C8094 pediatric MPNST signet ring cell intrahepatic cholangiocarcinoma DOID:7733 NCI:C41619 UMLS_CUI:C1519321 disease_ontology pancreatic colloid cystadenoma DOID:7735 NCI:C5718 UMLS_CUI:C1335309 disease_ontology mucinous Cystadenoma of pancreas NCI2004_11_17:C5718 mucinous Cystadenoma of pancreas retinal telangiectasia DOID:7736 ICD9CM:362.15 Retinal telangiectasia (disorder) SNOMEDCT_US_2015_03_01:84884003 UMLS_CUI:C0154835 disease_ontology Retinal telangiectasia (disorder) SNOMEDCT_2005_07_31:84884003 human papilloma virus related penile squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. Condylomatous carcinoma of penis DOID:7739 DOID:7740 HPV-Related Penile squamous cell carcinoma disease_ontology penis warty carcinoma true warty carcinoma of penis HPV-Related Penile squamous cell carcinoma NCI2004_11_17:C27682 A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. url:http://jco.ascopubs.org/content/25/29/4550.full.pdf+html Condylomatous carcinoma of penis NCI2004_11_17:C6981 retina lymphoma DOID:774 Lymphoma of retina (disorder) NCI:C4365 Retinal Lymphoma SNOMEDCT_US_2015_03_01:232075002 UMLS_CUI:C0339556 disease_ontology NCI2004_11_17:C4365 Retinal Lymphoma Lymphoma of retina (disorder) SNOMEDCT_2005_07_31:232075002 pediatric extraocular retinoblastoma An extraocular retinoblastoma that effects children. DOID:7747 NCI:C9048 UMLS_CUI:C1321870 childhood Extraocular Retinoblastoma disease_ontology An extraocular retinoblastoma that effects children. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 NCI2004_11_17:C9048 childhood Extraocular Retinoblastoma intraocular lymphoma DOID:7746 DOID:775 MSH:D064090 NCI:C9184 UMLS_CUI:C0281658 disease_ontology primary intraocular lymphoma adult brain ependymoma DOID:7750 NCI:C9372 UMLS_CUI:C1332186 disease_ontology extrahepatic biliary papillomatosis DOID:7752 NCI:C7124 UMLS_CUI:C1333511 disease_ontology recurrent cancer of testis DOID:7753 disease_ontology relapsed testicular carcinoma true NCI2004_11_17:C9369 relapsed testicular carcinoma Chondroid hamartoma of lung DOID:7754 disease_ontology pulmonary Chondroid hamartoma true NCI2004_11_17:C5659 pulmonary Chondroid hamartoma neonatal leukemia DOID:7756 NCI:C3845 Neonatal Leukemia UMLS_CUI:C0235813 disease_ontology NCI2004_11_17:C3845 Neonatal Leukemia childhood leukemia A leukemia that occurs in children. DOID:7757 NCI:C4989 UMLS_CUI:C1332977 disease_ontology A leukemia that occurs in children. url:http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html childhood multilocular cystic kidney neoplasm A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). DOID:7762 NCI:C6566 UMLS_CUI:C1332983 benign Multilocular cystic renal tumor disease_ontology pediatric Multilocular cystic renal tumor NCI2004_11_17:C6566 pediatric Multilocular cystic renal tumor A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). url:http://radiographics.rsna.org/content/15/3/653.abstract carcinoma of supraglottis DOID:7763 NCI:C5973 SNOMEDCT_US_2015_03_01:372105009 Supraglottic carcinoma UMLS_CUI:C1299240 carcinoma of supraglottis (disorder) disease_ontology SNOMEDCT_2005_07_31:372105009 carcinoma of supraglottis (disorder) NCI2004_11_17:C5973 Supraglottic carcinoma subglottis carcinoma DOID:7764 NCI:C5972 SNOMEDCT_US_2015_03_01:372104008 Subglottic carcinoma UMLS_CUI:C1299239 carcinoma of subglottis (disorder) disease_ontology SNOMEDCT_2005_07_31:372104008 carcinoma of subglottis (disorder) NCI2004_11_17:C5972 Subglottic carcinoma Coats disease Coats' disease (disorder) Coats' disease [Ambiguous] Coats' syndrome DOID:7765 Exudative retinopathy Exudative retinopathy (disorder) ICD10CM:H35.02 ICD10CM:H35.07 ICD9CM:362.12 MSH:D058456 OMIM mapping confirmed by DO. [SN]. OMIM:300216 SNOMEDCT_US_2015_03_01:193359003 SNOMEDCT_US_2015_03_01:193360008 SNOMEDCT_US_2015_03_01:25506007 SNOMEDCT_US_2015_03_01:360455002 UMLS_CUI:C0154832 disease_ontology Exudative retinopathy (disorder) SNOMEDCT_2005_07_31:25506007 Exudative retinopathy ICD9CM_2006:362.12 Exudative retinopathy SNOMEDCT_2005_07_31:193359003 Coats' disease [Ambiguous] SNOMEDCT_2005_07_31:193360008 Coats' disease (disorder) SNOMEDCT_2005_07_31:360455002 delusional disorder A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. DOID:778 ICD10CM:F22 ICD9CM:297.1 MSH:D012563 NCI:C94379 SNOMEDCT_US_2015_03_01:192330005 SNOMEDCT_US_2015_03_01:48500005 UMLS_CUI:C0011251 disease_ontology A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. url:http://en.wikipedia.org/wiki/Delusional_disorder mixed choriocarcinoma and embryonal carcinoma of the testis DOID:7786 disease_ontology mixed Choriocarcinoma and Embryonal carcinoma of testis true NCI2004_11_17:C6348 mixed Choriocarcinoma and Embryonal carcinoma of testis breast osteosarcoma DOID:7787 NCI:C5189 Osteogenic sarcoma of breast UMLS_CUI:C1335149 disease_ontology NCI2004_11_17:C5189 Osteogenic sarcoma of breast adult spinal cord ependymoma DOID:7788 NCI:C27399 UMLS_CUI:C1332215 disease_ontology recurrent uterine sarcoma A uterine Corpus sarcoma that has recurred after it has been treated. DOID:7793 disease_ontology relapsed sarcoma of Uterus true A uterine Corpus sarcoma that has recurred after it has been treated. url:http://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient NCI2004_11_17:C8261 relapsed sarcoma of Uterus transitional cell carcinoma of the ureter with glandular differentiation DOID:7799 disease_ontology true ureteral transitional cell carcinoma with glandular differentiation NCI2004_11_17:C6157 ureteral transitional cell carcinoma with glandular differentiation placenta disease A uterine disease that is located_in the placenta. DOID:1815 DOID:5366 DOID:780 DOID:9219 ICD10CM:O43 ICD10CM:O43.9 ICD10CM:O43.90 ICD9CM:646.9 MSH:D010922 MSH:D011248 NCI:C26857 NCI:C27619 NCI:C34941 NCI:C35169 SNOMEDCT_US_2015_03_01:125586008 SNOMEDCT_US_2015_03_01:156069003 SNOMEDCT_US_2015_03_01:156097009 SNOMEDCT_US_2015_03_01:156123001 SNOMEDCT_US_2015_03_01:156131006 SNOMEDCT_US_2015_03_01:172422001 SNOMEDCT_US_2015_03_01:173300003 SNOMEDCT_US_2015_03_01:198881004 SNOMEDCT_US_2015_03_01:199152008 SNOMEDCT_US_2015_03_01:23288008 SNOMEDCT_US_2015_03_01:267293009 SNOMEDCT_US_2015_03_01:267311008 SNOMEDCT_US_2015_03_01:267314000 SNOMEDCT_US_2015_03_01:90821003 UMLS_CUI:C0032045 UMLS_CUI:C0032962 UMLS_CUI:C0151864 UMLS_CUI:C1335423 disease_ontology A uterine disease that is located_in the placenta. url:http://en.wikipedia.org/wiki/Placenta_disease plasmacytoma-like PTLD DOID:7801 disease_ontology true nonmetastatic extraskeletal osteosarcoma DOID:7805 Non-metastatic extraskeletal Osteogenic sarcoma disease_ontology true NCI2004_11_17:C8809 Non-metastatic extraskeletal Osteogenic sarcoma adult spinal cord glioblastoma multiforme DOID:7806 Glioblastoma multiforme of spinal cord (disorder) NCI:C27183 SNOMEDCT_US_2015_03_01:276829003 UMLS_CUI:C0559185 adult Spinal Cord Glioblastoma disease_ontology Glioblastoma multiforme of spinal cord (disorder) SNOMEDCT_2005_07_31:276829003 NCI2004_11_17:C27183 adult Spinal Cord Glioblastoma choroid necrotic melanoma DOID:7807 NCI:C6865 UMLS_CUI:C1333026 disease_ontology necrotic Choroid melanoma NCI2004_11_17:C6865 necrotic Choroid melanoma necrotic uveal melanoma DOID:7808 NCI:C7990 UMLS_CUI:C1334931 disease_ontology anaplastic giant cell thyroid carcinoma DOID:7809 Undifferentiated Giant cell carcinoma of the Thyroid gland disease_ontology true NCI2004_11_17:C7906 Undifferentiated Giant cell carcinoma of the Thyroid gland AIDS-related Cytomegalovirus enterocolitis AIDS-related enterocolitis An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. DOID:7810 disease_ontology true An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. url:http://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false Enterovirus gastroenteritis An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. DOID:7812 DOID:7854 disease_ontology true An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. url:http://www.ncbi.nlm.nih.gov/pubmed/17033423 url:http://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf Cytomegalovirus colitis A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. CMV colitis DOID:7814 disease_ontology true A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. url:http://emedicine.medscape.com/article/173151-overview url:http://www.nlm.nih.gov/medlineplus/ency/article/000667.htm recurrent malignant thymoma DOID:7815 Thymoma malignant recurrent disease_ontology true NCI2004_11_17:C7905 Thymoma malignant recurrent mixed astrocytoma-ependymoma-oligodendroglioma DOID:7817 NCI:C8272 UMLS_CUI:C0280792 disease_ontology petroclival meningioma DOID:7818 NCI:C5278 UMLS_CUI:C1335395 disease_ontology sphenoorbital meningioma DOID:7819 NCI:C5285 UMLS_CUI:C1336040 disease_ontology renal infectious disease DOID:782 ICD10CM:N15.9 ICD9CM:590 ICD9CM:590.9 SNOMEDCT_US_2015_03_01:129128006 SNOMEDCT_US_2015_03_01:155865002 SNOMEDCT_US_2015_03_01:197785002 SNOMEDCT_US_2015_03_01:266618004 UMLS_CUI:C0021313 disease_ontology sphenocavernous meningioma DOID:7820 NCI:C5313 UMLS_CUI:C1336036 disease_ontology spinal multifocal clear cell meningioma DOID:7824 Multifocal Clear cell meningioma of Spine NCI:C5287 UMLS_CUI:C1336051 disease_ontology Multifocal Clear cell meningioma of Spine NCI2004_11_17:C5287 chronic toxic polyneuropathy DOID:7825 NCI:C35603 UMLS_CUI:C1333048 disease_ontology adult papillary meningioma DOID:7826 NCI:C8293 UMLS_CUI:C0281334 disease_ontology adult extraosseous osteosarcoma An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. DOID:7827 NCI:C7925 UMLS_CUI:C0278985 disease_ontology An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. url:http://jco.ascopubs.org/cgi/content/full/20/2/521 end stage renal failure DOID:783 End stage renal disease End stage renal disease (disorder) disease_ontology end stage renal disease End stage renal disease NCI2004_11_17:C9439 End stage renal disease (disorder) SNOMEDCT_2005_07_31:46177005 End stage renal disease ICD9CM_2006:585.6 CSP2005:1682-2922 end stage renal disease cervical papillary squamous cell carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. DOID:7833 disease_ontology true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13678741 human papilloma virus related cervical squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. DOID:6371 DOID:7834 HPV-Related cervical carcinoma HPV-Related cervical squamous cell carcinoma disease_ontology human papilloma virus related cervical carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. url:http://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html HPV-Related cervical carcinoma NCI2004_11_17:C27675 HPV-Related cervical squamous cell carcinoma NCI2004_11_17:C27676 mixed acinar-endocrine carcinoma DOID:7836 disease_ontology mixed acinar-endocrine carcinoma mixed acinar-endocrine carcinoma (morphologic abnormality) true SNOMEDCT_2005_07_31:999000 mixed acinar-endocrine carcinoma SNOMEDCT_2005_07_31:396891002 mixed acinar-endocrine carcinoma (morphologic abnormality) infiltrating nipple syringomatous adenoma DOID:7839 NCI:C40363 UMLS_CUI:C1518329 disease_ontology chronic kidney failure CRF DOID:784 EFO:0003884 ICD10CM:N18.9 ICD9CM:585.6 MSH:D007676 NCI:C9438 SNOMEDCT_US_2015_03_01:155856009 SNOMEDCT_US_2015_03_01:197654000 SNOMEDCT_US_2015_03_01:197655004 SNOMEDCT_US_2015_03_01:197755007 SNOMEDCT_US_2015_03_01:46177005 SNOMEDCT_US_2015_03_01:90688005 UMLS_CUI:C0022661 chronic renal disease chronic renal failure syndrome (disorder) disease_ontology renal failure - chronic SNOMEDCT_2005_07_31:197654000 renal failure - chronic SNOMEDCT_2005_07_31:155856009 renal failure - chronic NCI2004_11_17:C9438 chronic renal disease MTHICD9_2006:585.9 chronic renal disease CRF CSP2005:1682-2922 SNOMEDCT_2005_07_31:90688005 chronic renal failure syndrome (disorder) pancreatic non-functioning delta cell tumor DOID:7840 NCI:C28333 UMLS_CUI:C1335311 disease_ontology pediatric cerebral ependymoblastoma DOID:7841 NCI:C6957 UMLS_CUI:C1332962 disease_ontology female breast carcinoma A breast carcinoma that is manifested in the female breast. DOID:7843 Mammary carcinoma of female breast NCI:C2918 UMLS_CUI:C0007104 carcinoma of female breast disease_ontology Mammary carcinoma of female breast NCI2004_11_17:C2918 A breast carcinoma that is manifested in the female breast. url:http://en.wikipedia.org/wiki/Breast_cancer vascular hemorrhagic disorder DOID:7847 disease_ontology true interdigitating dendritic cell sarcoma A histiocytic and dendritic cell cancer that effect dendritic cells. DOID:7848 ICD10CM:C96.4 Interdigitating cell sarcoma MSH:D054739 NCI:C9282 SNOMEDCT_US_2015_03_01:128815007 UMLS_CUI:C1260326 disease_ontology A histiocytic and dendritic cell cancer that effect dendritic cells. url:http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma Interdigitating cell sarcoma NCI2004_11_17:C9282 Interdigitating cell sarcoma SNOMEDCT_2005_07_31:128815007 dendritic cell sarcoma A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. DOID:7849 Dendritic cell sarcoma Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) NCI:C27260 SNOMEDCT_US_2015_03_01:128815007 SNOMEDCT_US_2015_03_01:397355008 UMLS_CUI:C1301364 disease_ontology follicular dendritic cell sarcoma Dendritic cell sarcoma SNOMEDCT_2005_07_31:128815007 Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) SNOMEDCT_2005_07_31:397355008 A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. url:http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/ recurrent uvea melanoma DOID:7850 disease_ontology recurrent melanoma of Uvea true NCI2004_11_17:C7914 recurrent melanoma of Uvea pancreatic intraductal papillary-mucinous adenoma DOID:7851 NCI:C41249 SNOMEDCT_US_2015_03_01:473418001 UMLS_CUI:C1518868 disease_ontology recurrent ovarian germ cell neoplasm DOID:7855 disease_ontology relapsed germ cell tumor of Ovary true NCI2004_11_17:C8087 relapsed germ cell tumor of Ovary laryngeal disease DOID:786 ICD10CM:J38.7 ICD10CM:S12.8 ICD9CM:478.70 MSH:D007818 NCI:C26810 SNOMEDCT_US_2015_03_01:195863001 SNOMEDCT_US_2015_03_01:60600009 UMLS_CUI:C0023051 disease_ontology adult central nervous system germinoma DOID:7867 NCI:C5792 UMLS_CUI:C1370504 disease_ontology germinoma of the adult central nervous system NCI2004_11_17:C5792 germinoma of the adult central nervous system maxillary sinus inverted papilloma DOID:7868 Inverted papilloma of the maxillary sinus NCI:C6840 UMLS_CUI:C1334645 disease_ontology Inverted papilloma of the maxillary sinus NCI2004_11_17:C6840 adult xanthogranuloma DOID:7875 NCI:C27514 UMLS_CUI:C1332220 disease_ontology uterine corpus atypical polypoid adenomyoma DOID:7878 NCI:C40235 UMLS_CUI:C1519844 disease_ontology luteoma DOID:7880 NCI:C40445 UMLS_CUI:C1517842 disease_ontology leuteoma of pregnancy luteoma of pregnancy hypotony of eye associated with another ocular disorder DOID:789 disease_ontology true testicular spermatocytic seminoma with sarcoma DOID:7890 disease_ontology true testicular spermatocytic seminoma DOID:7891 disease_ontology breast adenohibernoma DOID:7892 disease_ontology true mite infestation A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. DOID:7894 ICD10CM:B88.0 ICD10CM:B88.9 ICD9CM:133 ICD9CM:133.9 MSH:D008924 SNOMEDCT_US_2015_03_01:154422001 SNOMEDCT_US_2015_03_01:187214007 SNOMEDCT_US_2015_03_01:187217000 SNOMEDCT_US_2015_03_01:240885009 SNOMEDCT_US_2015_03_01:266224002 SNOMEDCT_US_2015_03_01:78166003 UMLS_CUI:C0026229 disease_ontology A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. url:http://en.wikipedia.org/wiki/Mite ocular hypotension DOID:790 Decreased intraocular pressure (finding) Hypotony of eye Hypotony of eye (disorder) Hypotony of eye NOS (disorder) Hypotony of eye unspecified (disorder) Hypotony of eye, unspecified ICD10CM:H44.4 ICD10CM:H44.40 ICD9CM:360.3 ICD9CM:360.30 MSH:D015814 SNOMEDCT_US_2015_03_01:193280007 SNOMEDCT_US_2015_03_01:193283009 SNOMEDCT_US_2015_03_01:19721008 SNOMEDCT_US_2015_03_01:23670006 UMLS_CUI:C0028841 disease_ontology Hypotony of eye (disorder) SNOMEDCT_2005_07_31:19721008 Decreased intraocular pressure (finding) SNOMEDCT_2005_07_31:23670006 Hypotony of eye NOS (disorder) SNOMEDCT_2005_07_31:193283009 Hypotony of eye, unspecified ICD9CM_2006:360.30 Hypotony of eye ICD9CM_2006:360.3 Hypotony of eye unspecified (disorder) SNOMEDCT_2005_07_31:193280007 adult extraosseous chondrosarcoma DOID:7902 disease_ontology intracranial chondrosarcoma DOID:7903 NCI:C5462 UMLS_CUI:C1334238 disease_ontology mixed astrocytoma-ependymoma DOID:7907 NCI:C8271 UMLS_CUI:C0280791 disease_ontology disorganized schizophrenia in remission DOID:791 Disorganized schizophrenia in remission (disorder) Disorganized type schizophrenia, in remission disease_ontology true Disorganized type schizophrenia, in remission ICD9CM_2006:295.15 Disorganized schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:31373002 maxillary sinus squamous cell carcinoma DOID:7910 Epidermoid carcinoma of the Maxillofacial sinus NCI:C6064 UMLS_CUI:C1334647 disease_ontology Epidermoid carcinoma of the Maxillofacial sinus NCI2004_11_17:C6064 mixed oligodendroglioma-astrocytoma DOID:7912 MSH:D009837 NCI:C4050 SNOMEDCT_US_2015_03_01:22217002 UMLS_CUI:C0280793 WHO grade II mixed glioma disease_ontology NCI2004_11_17:C4050 WHO grade II mixed glioma cervical spinal canal and spinal cord meningioma DOID:7915 NCI:C5296 UMLS_CUI:C1332916 disease_ontology meningioma of the cervical Spinal canal and Spinal Cord NCI2004_11_17:C5296 meningioma of the cervical Spinal canal and Spinal Cord nonmetastatic extra-osseous ewing's sarcoma DOID:7919 Non-metastatic extraskeletal Ewing's sarcoma disease_ontology true NCI2004_11_17:C8802 Non-metastatic extraskeletal Ewing's sarcoma disorganized schizophrenia DOID:792 disease_ontology true central nervous system benign soft tissue neoplasm DOID:7920 benign soft tissue tumor of CNS disease_ontology true NCI2004_11_17:C6757 benign soft tissue tumor of CNS benign mediastinal psammomatous neurilemmoma DOID:7921 NCI:C6636 UMLS_CUI:C1332513 benign Psammomatous Schwannoma of mediastinum disease_ontology NCI2004_11_17:C6636 benign Psammomatous Schwannoma of mediastinum benign mediastinal neurilemmoma DOID:7922 NCI:C6625 benign Schwannoma of mediastinum disease_ontology NCI2004_11_17:C6625 benign Schwannoma of mediastinum epithelial malignant thymoma DOID:7926 NCI:C7997 SNOMEDCT_US_2015_03_01:128715000 SNOMEDCT_US_2015_03_01:128716004 Squamoid Thymoma Thymoma, epithelial UMLS_CUI:C0279705 Well differentiated thymic carcinoma disease_ontology SNOMEDCT_2005_07_31:128715000 Thymoma, epithelial NCI2004_11_17:C7997 Squamoid Thymoma SNOMEDCT_2005_07_31:128716004 Well differentiated thymic carcinoma malignant type A thymoma DOID:7927 NCI:C7999 SNOMEDCT_US_2015_03_01:128708008 Thymoma, medullary, malignant UMLS_CUI:C0279707 disease_ontology SNOMEDCT_2005_07_31:128708008 Thymoma, medullary, malignant testis refractory cancer DOID:7928 NCI:C9077 Refractory testicular carcinoma UMLS_CUI:C1377904 disease_ontology NCI2004_11_17:C9077 Refractory testicular carcinoma schizophrenia in remission DOID:793 Schizophrenia in remission (disorder) Unspecified schizophrenia, in remission disease_ontology true SNOMEDCT_2005_07_31:4926007 Schizophrenia in remission (disorder) ICD9CM_2006:295.95 Unspecified schizophrenia, in remission glandular-alveolar pattern testicular yolk sac tumor DOID:7930 NCI:C39926 UMLS_CUI:C1515305 disease_ontology old burn scar-related squamous cell carcinoma of skin DOID:7931 Old Burn Scar-Related squamous cell carcinoma of the skin disease_ontology true NCI2004_11_17:C27918 Old Burn Scar-Related squamous cell carcinoma of the skin childhood precursor T-lymphoblastic lymphoma/leukemia DOID:7933 NCI:C5640 UMLS_CUI:C1332997 disease_ontology precursor T-lymphoblastic lymphoma/leukemia refractory DOID:7936 NCI:C8696 UMLS_CUI:C0854859 disease_ontology dyschondroplasia DOID:7938 Dyschondroplasia Dyschondroplasia (disorder) Dyschondroplasia NOS (disorder) disease_ontology true Dyschondroplasia NCI2004_11_17:C34556 Dyschondroplasia (disorder) SNOMEDCT_2005_07_31:254143008 Dyschondroplasia NOS (disorder) SNOMEDCT_2005_07_31:205471005 Dyschondroplasia SNOMEDCT_2005_07_31:268274005 Dyschondroplasia SNOMEDCT_2005_07_31:16535008 Dyschondroplasia MTHICD9_2006:756.4 Dyschondroplasia SNOMEDCT_2005_07_31:205469005 residual schizophrenia in remission DOID:794 Residual schizophrenia in remission (disorder) Residual schizophrenia, in remission disease_ontology true ICD9CM_2006:295.65 Residual schizophrenia, in remission Residual schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:51133006 Barrett's adenocarcinoma Barrett adenocarcinoma DOID:7941 NCI:C7027 UMLS_CUI:C1332460 adenocarcinoma Arising in Barrett's Mucosa disease_ontology NCI2004_11_17:C7027 adenocarcinoma Arising in Barrett's Mucosa adult central nervous system mixed germ cell tumor DOID:7945 NCI:C27402 UMLS_CUI:C1332195 disease_ontology recurrent cancer of colon DOID:7946 disease_ontology recurrent colon carcinoma true NCI2004_11_17:C3998 recurrent colon carcinoma stroma-dominant and stroma-poor composite ganglioneuroblastoma DOID:7949 NCI:C42060 UMLS_CUI:C1516761 disease_ontology residual type schizophrenia DOID:795 Residual schizophrenia Residual schizophrenia (disorder) Residual schizophrenia, unspecified state Residual type schizophrenic disorder Restzustand, schizophrenic disease_ontology true Residual schizophrenia SNOMEDCT_2005_07_31:192324005 ICD9CM_2006:295.6 Residual type schizophrenic disorder Residual schizophrenia (disorder) SNOMEDCT_2005_07_31:26025008 ICD9CM_2006:295.60 Residual schizophrenia, unspecified state MTHICD9_2006:295.6 Restzustand, schizophrenic Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma DOID:7951 NCI:C42059 UMLS_CUI:C1516760 disease_ontology nipple duct carcinoma A nipple carcinoma that is located_in the nipple duct. DOID:7953 NCI:C27234 UMLS_CUI:C1334967 disease_ontology A nipple carcinoma that is located_in the nipple duct. url:http://www.cancer.gov/dictionary?CdrID=45963 EBV-related posttransplantation lymphoproliferative disease An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. DOID:7828 DOID:7956 EBV Related Clonal PTLD EBV-related PTLD Epstein-Barr virus related posttransplantation lymphoproliferative disorder disease_ontology true EBV Related Clonal PTLD NCI2004_11_17:C27695 An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm sarcomatoid penile squamous cell carcinoma DOID:7958 NCI:C6984 UMLS_CUI:C1335923 disease_ontology sarcomatous carcinoma of the penis NCI2004_11_17:C6984 sarcomatous carcinoma of the penis duodenal gastrinoma DOID:7959 Gastrinoma of duodenum NCI:C5731 UMLS_CUI:C1333321 disease_ontology duodenal G-cell gastrin producing tumor malignant duodenal gastrinoma Gastrinoma of duodenum NCI2004_11_17:C5731 malignant spiradenoma DOID:7960 NCI:C5117 SNOMEDCT_US_2015_03_01:128895006 SNOMEDCT_US_2015_03_01:403942003 UMLS_CUI:C1266063 disease_ontology malignant Eccrine Spiradenoma malignant eccrine spiradenoma (morphologic abnormality) NCI2004_11_17:C5117 malignant Eccrine Spiradenoma SNOMEDCT_2005_07_31:128895006 malignant eccrine spiradenoma (morphologic abnormality) cervical non-keratinizing squamous cell carcinoma DOID:7961 NCI:C40188 UMLS_CUI:C1518366 disease_ontology tamoxifen-Related endometrial Lesion DOID:7962 NCI:C40159 UMLS_CUI:C1515212 disease_ontology type 3 ALPS DOID:7966 disease_ontology true lipid-cell variant infiltrating bladder urothelial carcinoma DOID:7967 NCI:C39828 UMLS_CUI:C1512738 disease_ontology plasmacytoid variant infiltrating bladder urothelial carcinoma DOID:7968 NCI:C39823 UMLS_CUI:C1512742 disease_ontology nested variant infiltrating bladder urothelial carcinoma DOID:7969 NCI:C39819 UMLS_CUI:C1512741 disease_ontology microcystic variant infiltrating bladder urothelial carcinoma DOID:7971 NCI:C39820 UMLS_CUI:C1512740 disease_ontology lymphoma-like variant infiltrating bladder urothelial carcinoma DOID:7972 NCI:C39822 UMLS_CUI:C1512739 disease_ontology helicobacter pylori-related gastric adenocarcinoma DOID:7979 disease_ontology true breast malignant eccrine spiradenoma DOID:7983 NCI:C5180 UMLS_CUI:C1334565 disease_ontology malignant Eccrine Spiradenoma of the breast NCI2004_11_17:C5180 malignant Eccrine Spiradenoma of the breast sclerosing breast papilloma DOID:7984 NCI:C27944 UMLS_CUI:C1335932 disease_ontology cerebral falx meningioma DOID:7986 Falcine meningioma NCI:C5267 UMLS_CUI:C1333597 disease_ontology Falcine meningioma NCI2004_11_17:C5267 varicose veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. DOID:799 ICD10CM:I83.90 MSH:D014648 NCI:C35114 OMIM mapping confirmed by DO. [LS]. OMIM:192200 SNOMEDCT_US_2015_03_01:128060009 SNOMEDCT_US_2015_03_01:12856003 SNOMEDCT_US_2015_03_01:155468006 SNOMEDCT_US_2015_03_01:155482006 SNOMEDCT_US_2015_03_01:234053000 SNOMEDCT_US_2015_03_01:266331000 SNOMEDCT_US_2015_03_01:276504003 SNOMEDCT_US_2015_03_01:399989005 UMLS_CUI:C0042345 Varix (morphologic abnormality) Venous ectasia Venous varices (disorder) disease_ontology varices SNOMEDCT_2005_07_31:128060009 Venous varices (disorder) SNOMEDCT_2005_07_31:399989005 Venous ectasia SNOMEDCT_2005_07_31:12856003 Varix (morphologic abnormality) CSP2005:0571-9214 varices A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. url:http://www.nlm.nih.gov/medlineplus/varicoseveins.html url:https://www.nhlbi.nih.gov/health/health-topics/topics/vv/ central nervous system osteosarcoma DOID:7994 NCI:C7002 UMLS_CUI:C1335150 disease_ontology familial glomangioma DOID:7996 NCI:C5350 UMLS_CUI:C1333987 disease_ontology thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone. DOID:7997 ICD10CM:E05.9 ICD9CM:242 MSH:D013971 NCI:C61469 OMIM mapping confirmed by DO. [LS]. OMIM:275000 SNOMEDCT_US_2015_03_01:154655004 SNOMEDCT_US_2015_03_01:154659005 SNOMEDCT_US_2015_03_01:190239004 SNOMEDCT_US_2015_03_01:190267008 SNOMEDCT_US_2015_03_01:267373004 SNOMEDCT_US_2015_03_01:267464006 SNOMEDCT_US_2015_03_01:286909009 SNOMEDCT_US_2015_03_01:90739004 UMLS_CUI:C0040156 disease_ontology A thyroid gland disease that is characterized by excess thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmed/22394559 hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone. DOID:7998 ICD10CM:E05.9 MSH:D006980 NCI:C3123 OMIM:603373 OMIM:609152 ORDO:99819 SNOMEDCT_US_2015_03_01:154655004 SNOMEDCT_US_2015_03_01:190239004 SNOMEDCT_US_2015_03_01:267464006 SNOMEDCT_US_2015_03_01:34486009 UMLS_CUI:C0020550 Xref MGI. disease_ontology overactive thyroid A thyroid gland disease that involves an over production of thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001396/ NCI2004_11_17:C3123 overactive thyroid frontal convexity meningioma DOID:8000 NCI:C5292 UMLS_CUI:C1333643 disease_ontology supraglottis neoplasm DOID:8002 NCI:C6793 SNOMEDCT_US_2015_03_01:126697005 Supraglottic tumor UMLS_CUI:C0345726 disease_ontology neoplasm of supraglottis (disorder) SNOMEDCT_2005_07_31:126697005 neoplasm of supraglottis (disorder) NCI2004_11_17:C6793 Supraglottic tumor alveoli adenoma Alveolar adenoma (morphologic abnormality) DOID:8003 NCI:C4140 SNOMEDCT_US_2015_03_01:8097004 UMLS_CUI:C0334303 adenoma of alveoli adenoma of the alveoli disease_ontology NCI2004_11_17:C4140 adenoma of alveoli Alveolar adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8097004 ovarian dermoid cyst with prolactin secreting adenoma DOID:8004 disease_ontology true ovarian dermoid cyst with secondary pituitary-type tumor DOID:8005 disease_ontology true skin meningioma DOID:8006 NCI:C5277 UMLS_CUI:C1335481 disease_ontology primary meningioma of the skin NCI2004_11_17:C5277 primary meningioma of the skin Pancoast tumor DOID:4485 DOID:5762 DOID:8007 MSH:D010178 NCI:C27710 NCI:C55815 NCI:C7527 Pancoast tumor (disorder) Pancoast's syndrome Pancoast's syndrome (disorder) Pancoast's tumour SNOMEDCT_US_2015_03_01:154486000 SNOMEDCT_US_2015_03_01:187860004 SNOMEDCT_US_2015_03_01:254638002 SNOMEDCT_US_2015_03_01:269562004 SNOMEDCT_US_2015_03_01:278065000 SNOMEDCT_US_2015_03_01:80367008 Superior pulmonary sulcus syndrome (disorder) [Ambiguous] UMLS_CUI:C0030271 UMLS_CUI:C0549471 UMLS_CUI:C1335574 disease_ontology malignant Superior Sulcus tumor pulmonary sulcus tumor Pancoast's syndrome SNOMEDCT_2005_07_31:187860004 Pancoast's tumour SNOMEDCT_2005_07_31:154486000 SNOMEDCT_2005_07_31:80367008 Superior pulmonary sulcus syndrome (disorder) [Ambiguous] Pancoast's tumour SNOMEDCT_2005_07_31:269562004 Pancoast's syndrome (disorder) SNOMEDCT_2005_07_31:278065000 NCI2004_11_17:C7527 malignant Superior Sulcus tumor Pancoast tumor (disorder) SNOMEDCT_2005_07_31:254638002 penis mixed squamous cell carcinoma DOID:8009 NCI:C39959 UMLS_CUI:C1513369 disease_ontology hemarthrosis DOID:12025 DOID:13059 DOID:13646 DOID:13933 DOID:14242 DOID:800 DOID:801 DOID:953 Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot (disorder) Hemarthrosis of forearm Hemarthrosis of forearm (disorder) Hemarthrosis of hand Hemarthrosis of hand (disorder) Hemarthrosis of lower leg Hemarthrosis of lower leg (disorder) Hemarthrosis of shoulder Hemarthrosis of shoulder region (disorder) Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot (disorder) Hemarthrosis of the forearm Hemarthrosis of the forearm (disorder) Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the lower leg (disorder) Hemarthrosis of the pelvic region and thigh Hemarthrosis of the pelvic region and thigh (disorder) Hemarthrosis of the shoulder region (disorder) Hemarthrosis of the upper arm Hemarthrosis of the upper arm (disorder) Hemarthrosis of upper arm Hemarthrosis of upper arm (disorder) ICD10CM:M25.0 ICD9CM:719.1 ICD9CM:719.10 MSH:D006395 SNOMEDCT_US_2015_03_01:156581006 SNOMEDCT_US_2015_03_01:156591000 SNOMEDCT_US_2015_03_01:202394001 SNOMEDCT_US_2015_03_01:202422006 SNOMEDCT_US_2015_03_01:81808003 UMLS_CUI:C0018924 disease_ontology Hemarthrosis involving upper arm ICD9CM_2006:719.12 Hemarthrosis of hand (disorder) SNOMEDCT_2005_07_31:27507004 Hemarthrosis of the lower leg SNOMEDCT_2005_07_31:202400004 Hemarthrosis of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:267946007 Hemarthrosis of the lower leg (disorder) SNOMEDCT_2005_07_31:267947003 Hemarthrosis involving lower leg ICD9CM_2006:719.16 Hemarthrosis of upper arm (disorder) SNOMEDCT_2005_07_31:56179000 Haemarthrosis of the ankle and foot SNOMEDCT_2005_07_31:156589008 SNOMEDCT_2005_07_31:202401000 Hemarthrosis of forearm (disorder) SNOMEDCT_2005_07_31:15314004 Haemarthrosis of the pelvic region and thigh SNOMEDCT_2005_07_31:202399006 Hemarthrosis involving hand ICD9CM_2006:719.14 Hemarthrosis of lower leg (disorder) SNOMEDCT_2005_07_31:35909004 Hemarthrosis involving forearm ICD9CM_2006:719.13 Hemarthrosis of the forearm SNOMEDCT_2005_07_31:202398003 Hemarthrosis of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:83195003 Haemarthrosis of shoulder joint SNOMEDCT_2005_07_31:156583009 Hemarthrosis involving ankle and foot ICD9CM_2006:719.17 Hemarthrosis of the forearm (disorder) SNOMEDCT_2005_07_31:267945006 Hemarthrosis of the hand SNOMEDCT_2005_07_31:156586001 Hemarthrosis involving shoulder region ICD9CM_2006:719.11 Hemarthrosis of the shoulder region (disorder) SNOMEDCT_2005_07_31:202396004 Hemarthrosis of the ankle and/or foot (disorder) SNOMEDCT_2005_07_31:267948008 Hemarthrosis of the upper arm (disorder) SNOMEDCT_2005_07_31:267944005 Hemarthrosis of the upper arm SNOMEDCT_2005_07_31:202397008 Hemarthrosis involving pelvic region and thigh ICD9CM_2006:719.15 Hemarthrosis of shoulder region (disorder) SNOMEDCT_2005_07_31:2602008 metastatic fibrosarcoma DOID:8011 disease_ontology true benign pericardial teratoma DOID:8012 Mature teratoma of Pericardium NCI:C6744 UMLS_CUI:C1334638 disease_ontology Mature teratoma of Pericardium NCI2004_11_17:C6744 penis papillary carcinoma DOID:8013 NCI:C6983 UMLS_CUI:C1335322 disease_ontology squamous carcinoma of penis, Papillary type NCI2004_11_17:C6983 squamous carcinoma of penis, Papillary type ovarian dermoid cyst with corticotropin secreting adenoma DOID:8014 disease_ontology true anaplastic ganglioglioma DOID:8016 anaplastic ganglioglioma anaplastic ganglioglioma (morphologic abnormality) disease_ontology ganglioglioma, anaplastic (morphologic abnormality) true SNOMEDCT_2005_07_31:128912009 ganglioglioma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:134212004 anaplastic ganglioglioma (morphologic abnormality) NCI2004_11_17:C4717 anaplastic ganglioglioma renal pelvis and ureter regional transitional cell cancer DOID:8018 disease_ontology regional Urothelial carcinoma of the renal Pelvis and Ureter true NCI2004_11_17:C8168 regional Urothelial carcinoma of the renal Pelvis and Ureter renal pelvis and ureter recurrent transitional cell cancer DOID:8019 disease_ontology recurrent Urothelial carcinoma of the renal Pelvis and Ureter true NCI2004_11_17:C8254 recurrent Urothelial carcinoma of the renal Pelvis and Ureter glomangiomyoma DOID:8020 NCI:C4223 SNOMEDCT_US_2015_03_01:189745002 SNOMEDCT_US_2015_03_01:34550005 UMLS_CUI:C0334422 disease_ontology medullary carcinoma with amyloid stroma DOID:8021 Parafollicular cell carcinoma with Amyloid Stroma disease_ontology true NCI2004_11_17:C4193 Parafollicular cell carcinoma with Amyloid Stroma liver fibrosarcoma A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. DOID:8022 NCI:C5832 UMLS_CUI:C1333966 disease_ontology A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. url:http://en.wikipedia.org/wiki/Fibrosarcoma myxoid liposarcoma of the ovary DOID:8023 Myxoid Liposarcoma of Ovary NCI:C5235 UMLS_CUI:C1335170 disease_ontology Myxoid Liposarcoma of Ovary NCI2004_11_17:C5235 male genital tuberculosis DOID:8024 Tuberculosis of male genital organs disease_ontology true gastric signet ring cell adenocarcinoma DOID:8025 NCI:C5250 Signet Ring cell adenocarcinoma of the stomach UMLS_CUI:C1335965 disease_ontology NCI2004_11_17:C5250 Signet Ring cell adenocarcinoma of the stomach intestinal adenocarcinoma of the stomach DOID:8026 disease_ontology gastric intestinal type adenocarcinoma true NCI2004_11_17:C9157 gastric intestinal type adenocarcinoma sporadic breast cancer DOID:8029 NCI:C7566 UMLS_CUI:C1336076 disease_ontology periocular meningioma DOID:8030 NCI:C6777 UMLS_CUI:C1335383 disease_ontology pineal region meningioma DOID:8031 NCI:C6756 Pineal meningioma UMLS_CUI:C1335418 disease_ontology NCI2004_11_17:C6756 Pineal meningioma childhood ovarian embryonal carcinoma An ovarian embryonal carcinoma that occurs in childhood. DOID:8036 NCI:C6546 UMLS_CUI:C1332989 childhood embryonal carcinoma of the ovary disease_ontology pediatric Embryonal carcinoma of Ovary NCI2004_11_17:C6546 pediatric Embryonal carcinoma of Ovary An ovarian embryonal carcinoma that occurs in childhood. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma testis polyembryoma DOID:8042 NCI:C40962 Polyembryoma of testis UMLS_CUI:C1514200 disease_ontology NCI2004_11_17:C40962 Polyembryoma of testis chest wall parachordoma DOID:8043 NCI:C6720 Parachordoma of the Chest Wall UMLS_CUI:C1332934 disease_ontology NCI2004_11_17:C6720 Parachordoma of the Chest Wall recurrent cancer of prostate DOID:8045 disease_ontology recurrent prostate carcinoma true NCI2004_11_17:C7902 recurrent prostate carcinoma bladder tubulo-cystic clear cell adenocarcinoma DOID:8050 NCI:C39847 UMLS_CUI:C1511203 disease_ontology bladder papillary clear cell adenocarcinoma DOID:8051 NCI:C39848 UMLS_CUI:C1511196 disease_ontology recurrent urethral cancer A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. DOID:8055 disease_ontology relapsed urethra carcinoma true A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3 NCI2004_11_17:C7508 relapsed urethra carcinoma olfactory groove meningioma DOID:8057 MSH:D008579 NCI:C6771 UMLS_CUI:C1335107 disease_ontology meningioma of the Olfactory Groove NCI2004_11_17:C6771 meningioma of the Olfactory Groove pituitary stalk meningioma DOID:8058 NCI:C5311 UMLS_CUI:C1335422 disease_ontology meningioma of the Pituitary Stalk NCI2004_11_17:C5311 meningioma of the Pituitary Stalk frontal sinus inverted papilloma DOID:8060 Inverted papilloma of the Frontal sinus NCI:C6842 UMLS_CUI:C1333644 disease_ontology Inverted papilloma of the Frontal sinus NCI2004_11_17:C6842 intraductal breast myoepitheliosis DOID:8068 NCI:C40387 UMLS_CUI:C1512935 disease_ontology carotid artery occlusion DOID:807 ICD9CM:433.10 Occlusion and stenosis of carotid artery UMLS_CUI:C0375275 disease_ontology sarcomatous intrahepatic cholangiocarcinoma DOID:8072 NCI:C41620 UMLS_CUI:C1519184 disease_ontology childhood central nervous system germinoma DOID:8078 NCI:C27406 UMLS_CUI:C1332953 disease_ontology monomorphic T-cell PTLD DOID:8079 disease_ontology true ovarian mucinous cystic tumor associated with pseudomyxoma peritonei DOID:8080 disease_ontology true myxomatous pattern testicular yolk sac tumor DOID:8081 NCI:C39929 UMLS_CUI:C1515309 disease_ontology cellular congenital mesoblastic nephroma DOID:8082 NCI:C39815 UMLS_CUI:C1516474 disease_ontology classic congenital mesoblastic nephroma DOID:8083 NCI:C39814 UMLS_CUI:C1516475 disease_ontology cervical squamotransitional carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. DOID:8084 disease_ontology true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. url:http://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false ovarian dermoid cyst with sebaceous carcinoma DOID:8087 disease_ontology true advanced adult primary hepatoma Advanced adult primary Hepatocellular carcinoma DOID:8089 disease_ontology true Advanced adult primary Hepatocellular carcinoma NCI2004_11_17:C28302 cocaine abuse A substance abuse that involves the recurring use of cocaine despite negative consequences. DOID:809 ICD10CM:F14.1 ICD9CM:305.6 ICD9CM:305.60 MSH:D019970 SNOMEDCT_US_2015_03_01:78267003 UMLS_CUI:C0009171 disease_ontology A substance abuse that involves the recurring use of cocaine despite negative consequences. url:http://en.wikipedia.org/wiki/Cocaine_Abuse maxillary sinus Schneiderian papilloma DOID:8093 NCI:C6839 Schneiderian papilloma of the maxillary sinus UMLS_CUI:C1334646 disease_ontology NCI2004_11_17:C6839 Schneiderian papilloma of the maxillary sinus cervical condylomatous squamous cell carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. DOID:8094 cervical Warty squamous cell carcinoma disease_ontology true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. url:http://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/12685182 NCI2004_11_17:C40191 cervical Warty squamous cell carcinoma bladder mixed adenocarcinoma DOID:8096 NCI:C39839 UMLS_CUI:C1511192 disease_ontology bladder hepatoid adenocarcinoma DOID:8097 NCI:C39838 UMLS_CUI:C1511189 disease_ontology HIV-associated lipodystrophy syndrome A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. DOID:810 disease_ontology true A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. url:http://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome fetal adenoma DOID:8102 Microfollicular adenoma (morphologic abnormality) NCI:C4160 SNOMEDCT_US_2015_03_01:30301008 UMLS_CUI:C0334328 disease_ontology Microfollicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:30301008 vaginal tubulovillous adenoma DOID:8104 NCI:C40258 UMLS_CUI:C1519933 disease_ontology extrahepatic bile duct cystadenoma Cystadenoma of the extrahepatic bile duct DOID:8105 NCI:C5851 UMLS_CUI:C1333504 disease_ontology Cystadenoma of the extrahepatic bile duct NCI2004_11_17:C5851 cellular phase chronic idiopathic myelofibrosis DOID:8106 NCI:C41237 UMLS_CUI:C1516553 disease_ontology S-T syndrome DOID:8107 disease_ontology true fibroepithelial polyp of urethra DOID:8108 NCI:C6170 UMLS_CUI:C1336884 disease_ontology urethral Fibroepithelial polyp NCI2004_11_17:C6170 urethral Fibroepithelial polyp nephrogenic adenoma of the urethra DOID:8109 NCI:C7416 Nephrogenic adenoma of urethra UMLS_CUI:C1336889 disease_ontology NCI2004_11_17:C7416 Nephrogenic adenoma of urethra lipodystrophy DOID:811 ICD10CM:E88.1 ICD9CM:272.6 MSH:D008060 NCI:C97093 SNOMEDCT_US_2015_03_01:190789006 SNOMEDCT_US_2015_03_01:190790002 SNOMEDCT_US_2015_03_01:71325002 UMLS_CUI:C0023787 disease_ontology periampullary adenocarcinoma DOID:8110 NCI:C27322 UMLS_CUI:C1335377 disease_ontology recurrent childhood cerebral astrocytoma DOID:8115 disease_ontology true neuronitis DOID:8117 NCI:C34847 UMLS_CUI:C0027881 disease_ontology mature gastric teratoma DOID:8118 Mature teratoma of stomach NCI:C5260 UMLS_CUI:C1334635 disease_ontology Mature teratoma of stomach NCI2004_11_17:C5260 anal canal Paget's disease DOID:8119 NCI:C7477 Paget's disease of anal canal Paget's disease of the anal canal UMLS_CUI:C1332261 anal canal Paget disease disease_ontology NCI2004_11_17:C7477 Paget's disease of the anal canal adenocarcinoma in villous adenoma DOID:8120 adenocarcinoma in villous adenoma (morphologic abnormality) disease_ontology true villous adenoma or adenocarcinoma NOS (morphologic abnormality) villous adenomas and adenocarcinomas (morphologic abnormality) SNOMEDCT_2005_07_31:189627007 villous adenoma or adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:36087009 adenocarcinoma in villous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189624000 villous adenomas and adenocarcinomas (morphologic abnormality) SNOMEDCT_2005_07_31:189626003 adenocarcinoma in villous adenoma (morphologic abnormality) metastatic extra-osseous Ewing's sarcoma DOID:8121 disease_ontology metastatic extraskeletal Ewing's sarcoma true NCI2004_11_17:C8801 metastatic extraskeletal Ewing's sarcoma pseudovascular skin squamous cell carcinoma DOID:8122 NCI:C27542 UMLS_CUI:C1335974 disease_ontology osteochondrosis (Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS) An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. DOID:7490 DOID:8125 Epiphyseal necrosis, NOS ICD10CM:M92 ICD10CM:M93.9 ICD9CM:732.6 MSH:D055034 NCI:C34879 Osteochondrosis not specified as adult or juvenile, of unspecified site SNOMEDCT_US_2015_03_01:123256004 SNOMEDCT_US_2015_03_01:156822009 SNOMEDCT_US_2015_03_01:19579005 SNOMEDCT_US_2015_03_01:203398006 SNOMEDCT_US_2015_03_01:268125000 SNOMEDCT_US_2015_03_01:65477003 UMLS_CUI:C0029429 UMLS_CUI:C0158445 disease_ontology osteochondritis juvenilis An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. url:http://medical-dictionary.thefreedictionary.com/osteochondrosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrosis.aspx Epiphyseal necrosis, NOS SNOMEDCT_2005_07_31:65477003 (Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS) SNOMEDCT_2005_07_31:268125000 MTHICD9_2006:732.9 Osteochondrosis not specified as adult or juvenile, of unspecified site septic arthritis An arthritis that involves infection by a pathogen located_in joint. DOID:10920 DOID:12314 DOID:14519 DOID:1683 DOID:2002 DOID:2003 DOID:812 DOID:813 ICD10CM:M00 ICD10CM:M00.9 ICD9CM:711.0 ICD9CM:711.9 ICD9CM:711.90 ICD9CM:711.91 ICD9CM:711.92 ICD9CM:711.93 ICD9CM:711.94 ICD9CM:711.95 ICD9CM:711.96 ICD9CM:711.97 MSH:D001170 NCI:C26700 SNOMEDCT_US_2015_03_01:156470005 SNOMEDCT_US_2015_03_01:196415003 SNOMEDCT_US_2015_03_01:201455003 SNOMEDCT_US_2015_03_01:201471003 SNOMEDCT_US_2015_03_01:201591007 SNOMEDCT_US_2015_03_01:201592000 SNOMEDCT_US_2015_03_01:201593005 SNOMEDCT_US_2015_03_01:201594004 SNOMEDCT_US_2015_03_01:201595003 SNOMEDCT_US_2015_03_01:201596002 SNOMEDCT_US_2015_03_01:201597006 SNOMEDCT_US_2015_03_01:201598001 SNOMEDCT_US_2015_03_01:201599009 SNOMEDCT_US_2015_03_01:201623005 SNOMEDCT_US_2015_03_01:239776008 SNOMEDCT_US_2015_03_01:371412008 SNOMEDCT_US_2015_03_01:372939007 SNOMEDCT_US_2015_03_01:396234004 SNOMEDCT_US_2015_03_01:428437005 SNOMEDCT_US_2015_03_01:48548006 SNOMEDCT_US_2015_03_01:55388007 SNOMEDCT_US_2015_03_01:83486002 UMLS_CUI:C0003869 UMLS_CUI:C0157843 UMLS_CUI:C0157844 UMLS_CUI:C0157845 UMLS_CUI:C0157846 UMLS_CUI:C0157847 UMLS_CUI:C0157848 UMLS_CUI:C0157849 disease_ontology infectious arthritis An arthritis that involves infection by a pathogen located_in joint. url:http://emedicine.medscape.com/article/236299-overview url:http://en.wikipedia.org/wiki/Septic_arthritis url:http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm url:http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545 url:http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm breast columnar cell mucinous carcinoma DOID:8130 NCI:C40355 UMLS_CUI:C1511305 disease_ontology sclerosing mucoepidermoid thyroid carcinoma with eosinophilia DOID:8131 disease_ontology true epiglottis cancer DOID:8132 DOID:8133 DOID:8896 ICD10CM:C10.1 ICD9CM:146.4 NCI:C35697 NCI:C4836 SNOMEDCT_US_2015_03_01:187681002 SNOMEDCT_US_2015_03_01:187684005 SNOMEDCT_US_2015_03_01:187849008 SNOMEDCT_US_2015_03_01:308120004 SNOMEDCT_US_2015_03_01:93670003 SNOMEDCT_US_2015_03_01:93784003 UMLS_CUI:C0496765 UMLS_CUI:C0585946 UMLS_CUI:C1112382 disease_ontology epiglottic cancer malignant neoplasm of anterior aspect of epiglottis malignant neoplasm of anterior epiglottis (disorder) malignant neoplasm of anterior epiglottis NOS (disorder) malignant neoplasm of anterior surface of epiglottis malignant neoplasm of epiglottis malignant neoplasm of epiglottis NOS (disorder) malignant tumor of Epiglottis SNOMEDCT_2005_07_31:187684005 malignant neoplasm of anterior epiglottis NOS (disorder) NCI2004_11_17:C4836 malignant tumor of Epiglottis SNOMEDCT_2005_07_31:187681002 malignant neoplasm of anterior epiglottis (disorder) SNOMEDCT_2005_07_31:308120004 malignant neoplasm of epiglottis NOS (disorder) MTH:U001374 malignant neoplasm of anterior surface of epiglottis SNOMEDCT_2005_07_31:93784003 malignant neoplasm of epiglottis gallbladder lymphoma DOID:8135 Lymphoma of the gallbladder NCI:C5734 UMLS_CUI:C1333748 disease_ontology Lymphoma of the gallbladder NCI2004_11_17:C5734 transitional cell carcinoma of the ureter with mixed differentiation DOID:8136 disease_ontology true ureteral transitional cell carcinoma with mixed differentiation NCI2004_11_17:C6158 ureteral transitional cell carcinoma with mixed differentiation thymus clear cell carcinoma Clear cell carcinoma of the Thymus DOID:8137 NCI:C6462 UMLS_CUI:C1333069 disease_ontology Clear cell carcinoma of the Thymus NCI2004_11_17:C6462 thymus sarcomatoid carcinoma DOID:8138 NCI:C6463 Thymic Carcinosarcoma UMLS_CUI:C1335924 disease_ontology NCI2004_11_17:C6463 Thymic Carcinosarcoma adrenal gland ganglioneuroblastoma DOID:8140 NCI:C7646 UMLS_CUI:C1332176 disease_ontology pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with Unmutated IGVH DOID:8144 NCI:C37204 UMLS_CUI:C1333038 disease_ontology CLL/SLL with Unmutated IGVH NCI2004_11_17:C37204 metastatic neoplasm to the gallbladder DOID:8145 disease_ontology metastatic tumor to the gallbladder secondary malignant neoplasm of gallbladder (disorder) true NCI2004_11_17:C7482 metastatic tumor to the gallbladder SNOMEDCT_2005_07_31:94312000 secondary malignant neoplasm of gallbladder (disorder) anaplastic secondary supratentorial astrocytic neoplasm DOID:8146 Undifferentiated secondary Supratentorial astrocytoma disease_ontology true NCI2004_11_17:C5416 Undifferentiated secondary Supratentorial astrocytoma recurrent childhood malignant germ cell tumor DOID:8148 disease_ontology recurrent childhood malignant germ cell neoplasm true NCI2004_11_17:C9221 recurrent childhood malignant germ cell neoplasm malignant childhood germ cell neoplasm DOID:8149 NCI:C6541 UMLS_CUI:C1334574 disease_ontology malignant pediatric germ cell tumor NCI2004_11_17:C6541 malignant pediatric germ cell tumor pancreatic invasive intraductal papillary-mucinous carcinoma DOID:8150 NCI:C5726 UMLS_CUI:C1518871 disease_ontology appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 NCI:C27445 UMLS_CUI:C3274138 disease_ontology malignant appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal glucagonoma distal 1/3 of common bile duct adenocarcinoma DOID:8152 adenocarcinoma of the Distal 1/3 of the Common bile duct disease_ontology true NCI2004_11_17:C7976 adenocarcinoma of the Distal 1/3 of the Common bile duct fibroosseous pseudotumor of digits DOID:8153 Fibroosseous Digital Pseudotumor NCI:C6573 UMLS_CUI:C1333612 disease_ontology Fibroosseous Digital Pseudotumor NCI2004_11_17:C6573 complement component 5 deficiency C5 deficiency DOID:8158 NCI2009_04D:C9469 OMIM mapping confirmed by DO. [SN]. OMIM:609536 disease_ontology adult desmoplastic small round cell tumor A desmoplastic small round-cell tumor that primarily is located_in the abdomen. DOID:8160 disease_ontology true A desmoplastic small round-cell tumor that primarily is located_in the abdomen. url:http://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor thyroid hurthle cell carcinoma DOID:8161 MSH:C536913 NCI:C4946 OMIM mapping confirmed by DO. [LS]. OMIM:607464 Oncocytic carcinoma of the Thyroid SNOMEDCT_US_2015_03_01:423158009 UMLS_CUI:C0749424 disease_ontology NCI2004_11_17:C4946 Oncocytic carcinoma of the Thyroid thyroid hurthle cell adenoma DOID:8162 NCI:C6042 UMLS_CUI:C1336750 benign Oncocytoma of the Thyroid disease_ontology NCI2004_11_17:C6042 benign Oncocytoma of the Thyroid gallbladder cancer unresectable DOID:8163 disease_ontology gallbladder carcinoma Unresectable true NCI2004_11_17:C7890 gallbladder carcinoma Unresectable gallbladder melanoma DOID:8167 NCI:C5735 UMLS_CUI:C1333749 disease_ontology malignant melanoma of gallbladder NCI2004_11_17:C5735 malignant melanoma of gallbladder interstitial myocarditis DOID:817 Interstitial myocarditis (disorder) NCI:C35786 SNOMEDCT_US_2015_03_01:37925008 UMLS_CUI:C0027060 disease_ontology Interstitial myocarditis (disorder) SNOMEDCT_2005_07_31:37925008 fibroepithelial polyp of the anus DOID:8170 Fibroepithelial polyp of anus NCI:C5604 disease_ontology Fibroepithelial polyp of anus NCI2004_11_17:C5604 endocervical type cervical adenomyoma DOID:8177 NCI:C40232 UMLS_CUI:C1516405 disease_ontology endometrial type cervical adenomyoma DOID:8178 NCI:C40233 UMLS_CUI:C1516406 disease_ontology cervical atypical polypoid adenomyoma DOID:8179 NCI:C40234 UMLS_CUI:C1516409 disease_ontology fallopian tube gestational choriocarcinoma DOID:8186 Gestational Choriocarcinoma of the fallopian tube NCI:C6278 UMLS_CUI:C1333593 disease_ontology Gestational Choriocarcinoma of the fallopian tube NCI2004_11_17:C6278 gestational uterine corpus choriocarcinoma DOID:8187 disease_ontology uterine corpus choriocarcinoma DOID:8188 NCI:C27246 UMLS_CUI:C1336904 disease_ontology mediastinitis DOID:819 ICD10CM:J98.5 ICD9CM:519.2 MSH:D008480 Mediastinitis (disorder) NCI:C26827 SNOMEDCT_US_2015_03_01:47597000 UMLS_CUI:C0025064 disease_ontology Mediastinitis (disorder) SNOMEDCT_2005_07_31:47597000 recurrent vulva cancer DOID:8192 disease_ontology recurrent Vulvar carcinoma true NCI2004_11_17:C9054 recurrent Vulvar carcinoma papillary pattern testicular yolk sac tumor DOID:8193 NCI:C39928 UMLS_CUI:C1515310 disease_ontology recurrent pediatric hepatoma DOID:8194 disease_ontology recurrent pediatric Hepatocellular carcinoma true NCI2004_11_17:C9046 recurrent pediatric Hepatocellular carcinoma hepatoid pattern testicular yolk sac tumor DOID:8195 NCI:C39931 UMLS_CUI:C1515306 disease_ontology ovarian dermoid cyst with melanoma DOID:8197 disease_ontology true bursa syphilis DOID:8199 Syphilis of synovium, tendon or bursa (disorder) Syphilis of synovium, tendon or bursa NOS (disorder) Syphilis of synovium, tendon, and bursa disease_ontology true ICD9CM_2006:095.7 Syphilis of synovium, tendon, and bursa SNOMEDCT_2005_07_31:186899004 Syphilis of synovium, tendon or bursa (disorder) SNOMEDCT_2005_07_31:186900009 Syphilis of synovium, tendon or bursa NOS (disorder) myotonic cataract DOID:82 ICD9CM:366.43 Myotonic cataract Myotonic cataract (disorder) NCI:C34833 SNOMEDCT_US_2015_03_01:64741003 UMLS_CUI:C0027128 disease_ontology ICD9CM_2006:366.43 Myotonic cataract Myotonic cataract (disorder) SNOMEDCT_2005_07_31:64741003 myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. DOID:820 ICD10CM:I51.4 ICD9CM:429.0 KEGG:05416 MSH:D009205 Myocardial inflammation (finding) NCI:C34831 SNOMEDCT_US_2015_03_01:155380004 SNOMEDCT_US_2015_03_01:195119007 SNOMEDCT_US_2015_03_01:251060004 SNOMEDCT_US_2015_03_01:50920009 UMLS_CUI:C0027059 disease_ontology Myocardial inflammation (finding) SNOMEDCT_2005_07_31:251060004 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. url:http://en.wikipedia.org/wiki/Myocarditis tertiary syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. DOID:8200 ICD10CM:A52 ICD10CM:A52.3 ICD10CM:A52.9 ICD9CM:097.0 MSH:C536774 SNOMEDCT_US_2015_03_01:186905004 SNOMEDCT_US_2015_03_01:187358009 SNOMEDCT_US_2015_03_01:276200006 SNOMEDCT_US_2015_03_01:72083004 UMLS_CUI:C0153188 disease_ontology late syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis sacral spinal canal and spinal cord meningioma DOID:8203 NCI:C5299 UMLS_CUI:C1335893 disease_ontology meningioma of the Sacral Spinal canal and Spinal Cord NCI2004_11_17:C5299 meningioma of the Sacral Spinal canal and Spinal Cord alloimmunization DOID:8205 disease_ontology true hilar lung carcinoma DOID:8207 NCI:C7454 UMLS_CUI:C1334445 disease_ontology lung superior sulcus carcinoma DOID:8208 NCI:C7779 Superior Sulcus carcinoma of the lung UMLS_CUI:C1336529 disease_ontology superior sulcus carcinoma of lung NCI2004_11_17:C7779 Superior Sulcus carcinoma of the lung fallopian tube cystadenofibroma DOID:8211 NCI:C40114 UMLS_CUI:C1517111 disease_ontology parapharyngeal meningioma DOID:8216 NCI:C5303 UMLS_CUI:C1335345 disease_ontology recurrent epithelioid sarcoma DOID:8219 disease_ontology relapsed epithelioid sarcoma true NCI2004_11_17:C5059 relapsed epithelioid sarcoma recurrent extraosseous Ewing's sarcoma DOID:8220 disease_ontology recurrent extraskeletal Ewing's sarcoma true NCI2004_11_17:C8803 recurrent extraskeletal Ewing's sarcoma upper clivus meningioma DOID:8221 NCI:C5290 UMLS_CUI:C1336871 disease_ontology meningioma of the Upper Clivus NCI2004_11_17:C5290 meningioma of the Upper Clivus adenocarcinoma in tubular adenoma DOID:8222 adenocarcinoma in tubular adenoma disease_ontology true SNOMEDCT_2005_07_31:43233001 adenocarcinoma in tubular adenoma penile urethral cancer DOID:8223 NCI:C39868 UMLS_CUI:C1518950 disease_ontology central breast papilloma DOID:8224 DOID:8226 NCI:C36087 UMLS_CUI:C1332896 disease_ontology large duct breast papilloma solitary intraductal breast papilloma NCI2004_11_17:C36087 large duct breast papilloma microscopic breast papilloma DOID:8225 NCI:C36088 UMLS_CUI:C1335390 disease_ontology atypical breast papilloma DOID:8227 NCI:C36089 UMLS_CUI:C1332346 disease_ontology metastatic extraskeletal osteosarcoma DOID:8228 disease_ontology metastatic extraskeletal Osteogenic sarcoma true NCI2004_11_17:C8808 metastatic extraskeletal Osteogenic sarcoma metastatic small intestinal adenocarcinoma DOID:8229 disease_ontology true periapical periodontitis Apical periodontitis (disorder) Apical periodontitis NOS DOID:823 ICD10CM:K04.5 MSH:D010485 SNOMEDCT_US_2015_03_01:39273001 UMLS_CUI:C0031030 disease_ontology Apical periodontitis NOS MTHICD9_2006:522.6 Apical periodontitis (disorder) SNOMEDCT_2005_07_31:39273001 intrahepatic biliary papillomatosis DOID:8230 NCI:C7125 UMLS_CUI:C1334258 disease_ontology inflammatory liposarcoma DOID:8233 Inflammatory liposarcoma NCI:C6508 SNOMEDCT_US_2015_03_01:28655007 UMLS_CUI:C1370890 disease_ontology Inflammatory liposarcoma SNOMEDCT_2005_07_31:28655007 malignant hemangiopericytoma recurrent DOID:8234 disease_ontology relapsed malignant hemangiopericytoma true NCI2004_11_17:C9254 relapsed malignant hemangiopericytoma metastatic endometrial carcinoma DOID:8238 disease_ontology stage IV cancer of Uterus true NCI2004_11_17:C4006 stage IV cancer of Uterus lower clivus meningioma DOID:8239 NCI:C5288 UMLS_CUI:C1334434 disease_ontology meningioma of the lower Clivus NCI2004_11_17:C5288 meningioma of the lower Clivus periodontitis DOID:824 EFO:0000649 ICD10CM:K05.3 MSH:D010518 NCI:C34918 SNOMEDCT_US_2015_03_01:155648008 SNOMEDCT_US_2015_03_01:266491004 SNOMEDCT_US_2015_03_01:41565005 UMLS_CUI:C0031099 chronic pericementitis disease_ontology MTHICD9_2006:523.4 chronic pericementitis meningeal melanomatosis DOID:8243 Leptomeningeal melanomatosis Meningeal melanomatosis (morphologic abnormality) NCI:C6891 SNOMEDCT_US_2015_03_01:128731008 UMLS_CUI:C1266114 disease_ontology Meningeal melanomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:128731008 Leptomeningeal melanomatosis NCI2004_11_17:C6891 bone recurrent PNET DOID:8244 disease_ontology recurrent Neuroepithelioma of bone true NCI2004_11_17:C27354 recurrent Neuroepithelioma of bone breast myoid hamartoma DOID:8246 disease_ontology true adult pleomorphic rhabdomyosarcoma DOID:8251 NCI:C27369 UMLS_CUI:C1332211 disease_ontology chronic rhinitis A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. DOID:8252 ICD10CM:J31.0 ICD9CM:472.0 NCI:C34479 Rhinitis - chronic SNOMEDCT_US_2015_03_01:155522005 SNOMEDCT_US_2015_03_01:195764003 SNOMEDCT_US_2015_03_01:195774000 SNOMEDCT_US_2015_03_01:270532004 SNOMEDCT_US_2015_03_01:86094006 UMLS_CUI:C0008711 disease_ontology Rhinitis - chronic SNOMEDCT_2005_07_31:270532004 A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. url:http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh vulva fibroepithelial polyp DOID:8255 NCI:C6857 UMLS_CUI:C1336978 Vulval Fibroepithelial polyp disease_ontology NCI2004_11_17:C6857 Vulval Fibroepithelial polyp olfactory neural tumor DOID:8256 disease_ontology transitional cell carcinoma of the ureter with squamous differentiation DOID:8257 disease_ontology true ureteral transitional cell carcinoma with squamous differentiation NCI2004_11_17:C6156 ureteral transitional cell carcinoma with squamous differentiation bulbomembranous urethral cancer DOID:8259 NCI:C39869 UMLS_CUI:C1511339 disease_ontology adenocarcinoma in adenomatous polyposis coli DOID:8269 adenocarcinoma in adenomatous polyposis Coli adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) disease_ontology true SNOMEDCT_2005_07_31:57513006 adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) NCI2004_11_17:C4134 adenocarcinoma in adenomatous polyposis Coli ureter tuberculosis An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. DOID:827 ICD9CM:016.2 SNOMEDCT_US_2015_03_01:81359005 UMLS_CUI:C0152800 disease_ontology tuberculosis of ureter An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. url:http://emedicine.medscape.com/article/450651-overview anterior urethra cancer Anterior urethral malignant tumor DOID:8272 NCI:C7641 UMLS_CUI:C0279930 disease_ontology Anterior urethral malignant tumor NCI2004_11_17:C7641 synovial angioma DOID:8274 NCI:C6525 UMLS_CUI:C1336546 disease_ontology hemangioma of Synovium NCI2004_11_17:C6525 hemangioma of Synovium intratubular embryonal carcinoma An embryonal testis carcinoma that is located within a tubule. DOID:8275 NCI:C7325 UMLS_CUI:C1336096 disease_ontology An embryonal testis carcinoma that is located within a tubule. url:http://www.ncbi.nlm.nih.gov/pubmed/11900581 Hodgkin-like posttransplantation lymphoproliferative disease DOID:8276 Hodgkin's-like PTLD disease_ontology true Hodgkin's-like PTLD NCI2004_11_17:C7239 recurrent malignant peripheral nerve sheath neoplasm DOID:8281 disease_ontology relapsed MPNST true NCI2004_11_17:C8823 relapsed MPNST adult epithelioid sarcoma DOID:8282 NCI:C7944 UMLS_CUI:C0279545 disease_ontology peritonitis A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. DOID:8283 DOID:8694 DOID:8863 DOID:9233 ICD9CM:567.8 ICD9CM:567.89 Retractile mesenteritis Retractile mesenteritis (disorder) SNOMEDCT_US_2015_03_01:197183001 SNOMEDCT_US_2015_03_01:197187000 UMLS_CUI:C0029823 acute generalized peritonitis acute generalized peritonitis (disorder) disease_ontology primary bacterial peritonitis (disorder) sclerosing mesenteritis SNOMEDCT_2005_07_31:52890006 acute generalized peritonitis (disorder) Retractile mesenteritis (disorder) SNOMEDCT_2005_07_31:86422009 A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. url:http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402 url:http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm MTHICD9_2006:567.82 Retractile mesenteritis SNOMEDCT_2005_07_31:11836002 primary bacterial peritonitis (disorder) nonmetastatic epithelioid sarcoma DOID:8285 Non-metastatic epithelioid cell sarcoma disease_ontology true NCI2004_11_17:C8800 Non-metastatic epithelioid cell sarcoma metastatic epithelioid sarcoma DOID:8286 disease_ontology metastatic epithelioid cell sarcoma true NCI2004_11_17:C8799 metastatic epithelioid cell sarcoma Multiple Chondromatous hamartoma of lung DOID:8287 Multiple Chondromatous hamartoma of the lung disease_ontology true Multiple Chondromatous hamartoma of the lung NCI2004_11_17:C5663 clear cell squamous cell skin carcinoma Clear cell squamous cell carcinoma of skin (disorder) Clear cell squamous cell skin carcinoma DOID:8288 NCI:C4459 SNOMEDCT_US_2015_03_01:254652000 UMLS_CUI:C0345978 disease_ontology Clear cell squamous cell skin carcinoma NCI2004_11_17:C4459 Clear cell squamous cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254652000 breast adenolipoma DOID:8289 disease_ontology true crystal arthropathy Crystal arthropathy NOS, of multiple sites (disorder) Crystal arthropathy NOS, of the ankle and foot (disorder) Crystal arthropathy NOS, of the forearm (disorder) Crystal arthropathy NOS, of the hand (disorder) Crystal arthropathy NOS, of the lower leg (disorder) Crystal arthropathy NOS, of the pelvic region and thigh Crystal arthropathy NOS, of the pelvic region and thigh (disorder) Crystal arthropathy NOS, of the shoulder region (disorder) Crystal arthropathy NOS, of the upper arm (disorder) Crystal arthropathy of ankle and/or foot Crystal arthropathy of ankle and/or foot (disorder) Crystal arthropathy of forearm Crystal arthropathy of forearm (disorder) Crystal arthropathy of hand Crystal arthropathy of hand (disorder) Crystal arthropathy of lower leg Crystal arthropathy of lower leg (disorder) Crystal arthropathy of multiple sites Crystal arthropathy of multiple sites (disorder) Crystal arthropathy of shoulder region Crystal arthropathy of shoulder region (disorder) Crystal arthropathy of upper arm Crystal arthropathy of upper arm (disorder) DOID:10213 DOID:12248 DOID:13796 DOID:14024 DOID:14158 DOID:2008 DOID:2009 DOID:828 DOID:829 Unspecified crystal arthropathy involving ankle and foot Unspecified crystal arthropathy involving forearm Unspecified crystal arthropathy involving hand Unspecified crystal arthropathy involving lower leg Unspecified crystal arthropathy involving multiple sites Unspecified crystal arthropathy involving pelvic region and thigh Unspecified crystal arthropathy involving shoulder region Unspecified crystal arthropathy involving upper arm disease_ontology true Crystal arthropathy NOS, of the upper arm (disorder) SNOMEDCT_2005_07_31:201690002 ICD9CM_2006:712.91 Unspecified crystal arthropathy involving shoulder region Crystal arthropathy NOS, of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:201693000 Crystal arthropathy of hand (disorder) SNOMEDCT_2005_07_31:26241001 Crystal arthropathy of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:75468006 Crystal arthropathy of upper arm (disorder) SNOMEDCT_2005_07_31:46237005 Crystal arthropathy NOS, of the lower leg (disorder) SNOMEDCT_2005_07_31:201694006 ICD9CM_2006:712.93 Unspecified crystal arthropathy involving forearm Crystal arthropathy of multiple sites (disorder) SNOMEDCT_2005_07_31:20075001 Crystal arthropathy of forearm (disorder) SNOMEDCT_2005_07_31:22469005 ICD9CM_2006:712.94 Unspecified crystal arthropathy involving hand Crystal arthropathy NOS, of multiple sites (disorder) SNOMEDCT_2005_07_31:201719005 Crystal arthropathy NOS, of the hand (disorder) SNOMEDCT_2005_07_31:201692005 ICD9CM_2006:712.92 Unspecified crystal arthropathy involving upper arm Crystal arthropathy of lower leg (disorder) SNOMEDCT_2005_07_31:21757001 ICD9CM_2006:712.99 Unspecified crystal arthropathy involving multiple sites ICD9CM_2006:712.96 Unspecified crystal arthropathy involving lower leg ICD9CM_2006:712.95 Unspecified crystal arthropathy involving pelvic region and thigh Crystal arthropathy of shoulder region (disorder) SNOMEDCT_2005_07_31:34427002 Crystal arthropathy NOS, of the shoulder region (disorder) SNOMEDCT_2005_07_31:201689006 ICD9CM_2006:712.97 Unspecified crystal arthropathy involving ankle and foot Crystal arthropathy NOS, of the ankle and foot (disorder) SNOMEDCT_2005_07_31:201695007 Crystal arthropathy NOS, of the forearm (disorder) SNOMEDCT_2005_07_31:201691003 atypical follicular adenoma Atypical Follicular adenoma Atypical follicular adenoma (morphologic abnormality) DOID:8292 NCI:C27729 SNOMEDCT_US_2015_03_01:128892009 UMLS_CUI:C1266046 disease_ontology Atypical follicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128892009 Atypical Follicular adenoma NCI2004_11_17:C27729 scabies A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. DOID:8295 ICD10CM:B86 ICD9CM:133.0 Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis MSH:D012532 NCI:C34998 SNOMEDCT_US_2015_03_01:128869009 SNOMEDCT_US_2015_03_01:154422001 SNOMEDCT_US_2015_03_01:187215008 SNOMEDCT_US_2015_03_01:266224002 SNOMEDCT_US_2015_03_01:67172004 Sarcoptic itch UMLS_CUI:C0036262 disease_ontology Infestation by Sarcoptes scabiei var hominis SNOMEDCT_2005_07_31:128869009 A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm Infestation by Sarcoptes scabiei MTHICD9_2006:133.0 SNOMEDCT_2005_07_31:187215008 Sarcoptic itch cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. DOID:83 ICD10CM:H26 ICD9CM:366.8 OMIM:115650 OMIM:115660 OMIM:115665 OMIM:115700 OMIM:115800 OMIM:115900 OMIM:116100 OMIM:116200 OMIM:116300 OMIM:116400 OMIM:116700 OMIM:116800 OMIM:212500 OMIM:302200 OMIM:600881 OMIM:601202 OMIM:601371 OMIM:601547 OMIM:601885 OMIM:604219 OMIM:604307 OMIM:605728 OMIM:605749 OMIM:607304 OMIM:609026 OMIM:609376 OMIM:609741 OMIM:610019 OMIM:610202 OMIM:610425 OMIM:611391 OMIM:611544 OMIM:611597 OMIM:612968 OMIM:613887 OMIM:614422 OMIM:614691 OMIM:614697 OMIM:615188 OMIM:615274 OMIM:615277 OMIM:616279 OMIM:616509 SNOMEDCT_US_2015_03_01:193620000 SNOMEDCT_US_2015_03_01:193622008 UMLS_CUI:C0029531 Xref MGI. disease_ontology A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. url:http://en.wikipedia.org/wiki/Cataract url:http://www.ncbi.nlm.nih.gov/pubmed/10414631 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001996/ mixed endometrial stromal and smooth muscle tumor DOID:8302 NCI:C40178 Stromomyoma UMLS_CUI:C1513364 disease_ontology NCI2004_11_17:C40178 Stromomyoma congenital granular cell tumor DOID:8303 disease_ontology lymph node palisaded myofibroblastoma DOID:8304 NCI:C6584 Palisaded Myofibroblastoma of the Lymph Node UMLS_CUI:C1335295 disease_ontology NCI2004_11_17:C6584 Palisaded Myofibroblastoma of the Lymph Node nonossifying fibromyxoid tumor DOID:8305 NCI:C6583 Nonossifying Fibromyxoma UMLS_CUI:C1335063 disease_ontology NCI2004_11_17:C6583 Nonossifying Fibromyxoma early invasive cervical adenocarcinoma DOID:8307 NCI:C36096 UMLS_CUI:C1333369 disease_ontology metastatic carcinoma from the small bowel DOID:8309 disease_ontology metastatic carcinoma from the small Intestine true NCI2004_11_17:C8637 metastatic carcinoma from the small Intestine sclerosing adenosis of breast DOID:8310 NCI:C5205 SNOMEDCT_US_2015_03_01:105261000119101 Sclerosing breast Adenosis UMLS_CUI:C1335931 disease_ontology NCI2004_11_17:C5205 Sclerosing breast Adenosis resectable small intestine carcinoma DOID:8329 Resectable carcinoma of the Small Bowel disease_ontology true NCI2004_11_17:C8639 Resectable carcinoma of the Small Bowel auditory system cancer An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. DOID:833 MSH:D004428 NCI:C3000 SNOMEDCT_US_2015_03_01:363228008 UMLS_CUI:C0013449 disease_ontology ear cancer ear neoplasm neoplasm of ear (disorder) tumor of ear SNOMEDCT_2005_07_31:363228008 neoplasm of ear (disorder) An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. url:http://en.wikipedia.org/wiki/Ear url:http://www.buzzle.com/articles/ear-cancer.html CSP2005:2018-3094 ear neoplasm NCI2004_11_17:C3000 tumor of ear perineural angioma DOID:8331 NCI:C6526 UMLS_CUI:C1335382 disease_ontology testicular intratubular germ cell neoplasia with extratubular extension DOID:8334 disease_ontology true microglandular adenosis of breast DOID:8335 Microglandular Adenosis of the breast NCI:C5199 UMLS_CUI:C1334753 disease_ontology Microglandular Adenosis of the breast NCI2004_11_17:C5199 childhood choriocarcinoma of the ovary DOID:8336 NCI:C6549 UMLS_CUI:C1332987 disease_ontology pediatric Choriocarcinoma of Ovary NCI2004_11_17:C6549 pediatric Choriocarcinoma of Ovary appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. DOID:10275 DOID:10276 DOID:10947 DOID:8337 ICD10CM:K37 ICD9CM:540-543.99 ICD9CM:541 MSH:D001064 SNOMEDCT_US_2015_03_01:155728006 SNOMEDCT_US_2015_03_01:155729003 SNOMEDCT_US_2015_03_01:155733005 SNOMEDCT_US_2015_03_01:155736002 SNOMEDCT_US_2015_03_01:196785005 SNOMEDCT_US_2015_03_01:307530000 SNOMEDCT_US_2015_03_01:74400008 UMLS_CUI:C0003615 acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with generalized peritonitis (disorder) acute appendicitis with peritoneal abscess acute appendicitis with peritoneal abscess (disorder) disease_ontology A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. url:http://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/ url:http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 SNOMEDCT_2005_07_31:51036000 acute appendicitis with peritoneal abscess (disorder) SNOMEDCT_2005_07_31:28845006 acute appendicitis with generalized peritonitis (disorder) villoglandular variant cervical mucinous adenocarcinoma DOID:8338 NCI:C40208 UMLS_CUI:C1516425 disease_ontology intestinal variant cervical mucinous adenocarcinoma DOID:8339 NCI:C40203 UMLS_CUI:C1516422 disease_ontology endocervical type cervical mucinous adenocarcinoma DOID:8340 NCI:C40202 UMLS_CUI:C1516421 disease_ontology type 1b ALPS DOID:8344 disease_ontology true type 2 ALPS DOID:8345 disease_ontology true localized PNET of bone DOID:8348 disease_ontology localized Neuroepithelioma of bone true NCI2004_11_17:C27353 localized Neuroepithelioma of bone metastatic peripheral neuroepithelioma of bone DOID:8349 disease_ontology true aortic malignant tumor DOID:8352 NCI:C5375 UMLS_CUI:C1334560 aortic malignant neoplasm disease_ontology epithelioid malignant peripheral nerve sheath tumor DOID:8353 NCI:C6561 SNOMEDCT_US_2015_03_01:19897006 SNOMEDCT_US_2015_03_01:253093000 SNOMEDCT_US_2015_03_01:404038007 UMLS_CUI:C1321427 disease_ontology epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath NCI2004_11_17:C6561 malignant epithelioid neoplasm of the peripheral nerve Sheath SNOMEDCT_2005_07_31:19897006 epithelioid MPNST complement component 3 deficiency C3 deficiency DOID:8354 NCI:C9468 OMIM:613779 ORDO:280133 UMLS_CUI:C1332655 Xref MGI. disease_ontology pseudoglandular variant testicular seminoma DOID:8358 NCI:C40958 UMLS_CUI:C1515293 disease_ontology glassy cell variant cervical adenosquamous carcinoma A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. DOID:8361 NCI:C40212 UMLS_CUI:C1516407 disease_ontology A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. url:http://www.ncbi.nlm.nih.gov/pubmed/14749637 url:http://www.ncbi.nlm.nih.gov/pubmed/15318016 url`:http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix enteric pattern testicular yolk sac tumor DOID:8362 NCI:C39932 UMLS_CUI:C1515304 disease_ontology inferior vena cava malignant neoplasm DOID:8365 disease_ontology malignant tumor of Inferior Vena Cava true NCI2004_11_17:C5377 malignant tumor of Inferior Vena Cava esophageal adenocarcinoma recurrent DOID:8366 disease_ontology relapsed adenocarcinoma of the esophagus true NCI2004_11_17:C8627 relapsed adenocarcinoma of the esophagus chordoid meningioma Chordoid meningioma DOID:8368 NCI:C6908 SNOMEDCT_US_2015_03_01:399709001 SNOMEDCT_US_2015_03_01:57606003 UMLS_CUI:C1370510 disease_ontology meningioma, chordoid (morphologic abnormality) SNOMEDCT_2005_07_31:399709001 meningioma, chordoid (morphologic abnormality) Chordoid meningioma NCI2004_11_17:C6908 adult malignant schwannoma DOID:8369 NCI:C7814 UMLS_CUI:C0278622 adult MPNST disease_ontology NCI2004_11_17:C7814 adult MPNST mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis DOID:8376 disease_ontology mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis true NCI2004_11_17:C9172 mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis ectopic calcitonin production DOID:8381 Ectopic Calcitonin Secretion Ectopic calcitonin production (finding) disease_ontology true Ectopic Calcitonin Secretion NCI2004_11_17:C8443 Ectopic calcitonin production (finding) SNOMEDCT_2005_07_31:95836003 recurrent endometrial cancer DOID:8382 disease_ontology relapsed carcinoma of Endometrium true NCI2004_11_17:C9072 relapsed carcinoma of Endometrium ectopic chorionic gonadotropin secretion disease DOID:8386 disease_ontology true metastatic non-cutaneous melanoma DOID:8387 disease_ontology true mixed embryonal carcinoma and seminoma of the testis DOID:8388 disease_ontology mixed Embryonal carcinoma and Seminoma of testis true NCI2004_11_17:C6350 mixed Embryonal carcinoma and Seminoma of testis lumbar plexus neoplasm DOID:8389 NCI:C5824 UMLS_CUI:C1334437 disease_ontology tumor of Lumbar Plexus NCI2004_11_17:C5824 tumor of Lumbar Plexus mixed choriocarcinoma and seminoma of the testis DOID:8390 disease_ontology mixed Choriocarcinoma and Seminoma of testis true NCI2004_11_17:C9173 mixed Choriocarcinoma and Seminoma of testis reticular pattern testicular yolk sac tumor DOID:8392 NCI:C39923 UMLS_CUI:C1515308 disease_ontology adult type testicular granulosa cell tumor DOID:8394 NCI:C39946 UMLS_CUI:C1515284 disease_ontology osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint. DOID:8398 EFO:0002506 ICD9CM:715.3 OMIM:140600 OMIM:165720 OMIM:607850 OMIM:610839 OMIM:612400 OMIM:612401 Osteoarthrosis and allied disorder UMLS_CUI:C0157946 Xref MGI. degenerative arthritis degenerative joint disease disease_ontology hypertrophic arthritis osteoarthrosis An arthritis that has_material_basis_in worn out cartilage located_in joint. url:http://en.wikipedia.org/wiki/Osteoarthritis url:http://www.mayoclinic.com/health/osteoarthritis/DS00019 url:http://www.medicinenet.com/osteoarthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm trombiculiasis A mite infestation that involves rash caused by Leptotrombidium deliense. DOID:8399 MSH:D014323 UMLS_CUI:C0041170 disease_ontology A mite infestation that involves rash caused by Leptotrombidium deliense. url:http://en.wikipedia.org/wiki/Trombiculosis osteochondritis dissecans An ischemic bone disease that results_in necrosis located_in epiphysis. DOID:84 DOID:87 ICD10CM:M93.2 ICD10CM:M93.9 ICD9CM:732.7 MSH:D010007 MSH:D010008 NCI:C34877 NCI:C34878 OCD OMIM mapping confirmed by DO. [SN]. OMIM:165800 SNOMEDCT_US_2015_03_01:156821002 SNOMEDCT_US_2015_03_01:156822009 SNOMEDCT_US_2015_03_01:203424002 SNOMEDCT_US_2015_03_01:203425001 SNOMEDCT_US_2015_03_01:268027006 SNOMEDCT_US_2015_03_01:268125000 SNOMEDCT_US_2015_03_01:70736000 SNOMEDCT_US_2015_03_01:82562007 UMLS_CUI:C0029420 UMLS_CUI:C0029421 disease_ontology An ischemic bone disease that results_in necrosis located_in epiphysis. url:http://en.wikipedia.org/wiki/Osteochondritis_dissecans url:http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741 url:http://www.medicinenet.com/osteochondritis_dissecans/article.htm CSP2005:2483-7050 OCD cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. DOID:840 ICD10CM:J67.3 ICD9CM:495.3 SNOMEDCT_US_2015_03_01:13394002 Suberosis Suberosis (disorder) UMLS_CUI:C0152108 cork-handlers' disease or lung cork-handlers' lung disease_ontology An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. url:http://chestjournal.chestpubs.org/content/124/3/1145.full.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf ICD9CM_2006:495.3 Suberosis SNOMEDCT_2005_07_31:13394002 Suberosis (disorder) malignant cornea melanoma DOID:8400 NCI:C4553 SNOMEDCT_US_2015_03_01:255009006 UMLS_CUI:C0346367 disease_ontology malignant Corneal melanoma malignant melanoma of cornea (disorder) NCI2004_11_17:C4553 malignant Corneal melanoma SNOMEDCT_2005_07_31:255009006 malignant melanoma of cornea (disorder) malignant hemangiopericytoma nonmetastatic DOID:8401 Non-metastatic malignant hemangiopericytoma disease_ontology true NCI2004_11_17:C8710 Non-metastatic malignant hemangiopericytoma Meckel's diverticulitis A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. DOID:8408 Meckel diverticulitis Meckel's diverticulitis (disorder) NCI:C27300 SNOMEDCT_US_2015_03_01:48241004 UMLS_CUI:C0267497 disease_ontology Meckel's diverticulitis (disorder) SNOMEDCT_2005_07_31:48241004 A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. PMID:17021300 PMID:17579156 url:https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis microinvasive cervical squamous cell carcinoma DOID:8409 NCI:C36094 UMLS_CUI:C1333370 disease_ontology extrinsic allergic alveolitis An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. DOID:2707 DOID:841 ICD10CM:J67.9 ICD9CM:495 ICD9CM:495.9 MSH:D000542 NCI:C34369 SNOMEDCT_US_2015_03_01:155581001 SNOMEDCT_US_2015_03_01:195993008 SNOMEDCT_US_2015_03_01:195994002 SNOMEDCT_US_2015_03_01:266399001 SNOMEDCT_US_2015_03_01:37471005 UMLS_CUI:C0002390 alveolitis disease_ontology hypersensitivity pneumonitis An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. url:http://www.merck.com/mmhe/sec04/ch051/ch051b.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm childhood kidney angiomyolipoma DOID:8410 NCI:C6565 UMLS_CUI:C1333000 disease_ontology pediatric renal Angiomyolipoma NCI2004_11_17:C6565 pediatric renal Angiomyolipoma kidney angiomyolipoma Angiomyolipoma of kidney (disorder) DOID:8411 NCI:C3888 SNOMEDCT_US_2015_03_01:254921004 UMLS_CUI:C0241961 disease_ontology renal Angiomyolipoma Angiomyolipoma of kidney (disorder) SNOMEDCT_2005_07_31:254921004 NCI2004_11_17:C3888 renal Angiomyolipoma recurrent extraskeletal osteosarcoma DOID:8413 disease_ontology relapsed extraskeletal Osteosarcoma true NCI2004_11_17:C8811 relapsed extraskeletal Osteosarcoma carcinoma arising in nasal papillomatosis DOID:8415 NCI:C27389 UMLS_CUI:C1332840 disease_ontology congenital fibrosarcoma DOID:8418 Infantile fibrosarcoma (disorder) Infantile fibrosarcoma (morphologic abnormality) NCI:C4244 SNOMEDCT_US_2015_03_01:403996004 SNOMEDCT_US_2015_03_01:52040006 UMLS_CUI:C0334459 disease_ontology Infantile fibrosarcoma (disorder) SNOMEDCT_2005_07_31:403996004 Infantile fibrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:52040006 colloid adenoma DOID:8419 Macrofollicular adenoma (morphologic abnormality) NCI:C4161 SNOMEDCT_US_2015_03_01:26545006 UMLS_CUI:C0334329 disease_ontology Macrofollicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:26545006 malignant glandular tumor of peripheral nerve sheath DOID:8420 NCI:C6560 SNOMEDCT_US_2015_03_01:699658004 SNOMEDCT_US_2015_03_01:699659007 UMLS_CUI:C1333821 disease_ontology glandular MPNST NCI2004_11_17:C6560 glandular MPNST follicular infundibulum tumor DOID:8426 NCI:C4469 SNOMEDCT_US_2015_03_01:254694002 UMLS_CUI:C0346006 disease_ontology neoplasm of the Follicular Infundibulum tumor of follicular infundibulum (disorder) SNOMEDCT_2005_07_31:254694002 tumor of follicular infundibulum (disorder) NCI2004_11_17:C4469 neoplasm of the Follicular Infundibulum retinal melanoma DOID:8427 NCI:C8601 SNOMEDCT_US_2015_03_01:423673009 UMLS_CUI:C0853394 disease_ontology malignant Retinal melanoma NCI2004_11_17:C8601 malignant Retinal melanoma breast apocrine carcinoma in situ Apocrine carcinoma in situ of the breast DOID:8428 NCI:C5140 UMLS_CUI:C1332315 disease_ontology Apocrine carcinoma in situ of the breast NCI2004_11_17:C5140 testicular seminoma with syncytiotrophoblastic cells DOID:8429 disease_ontology true physiological polycythemia DOID:8431 NCI:C27311 UMLS_CUI:C0856817 disease_ontology polycythemia DOID:8432 Erythrocythemia ICD10CM:D75.1 MSH:D011086 NCI:C26863 SNOMEDCT_US_2015_03_01:109992005 SNOMEDCT_US_2015_03_01:127062003 SNOMEDCT_US_2015_03_01:165401000 SNOMEDCT_US_2015_03_01:44865000 UMLS_CUI:C0032461 disease_ontology Erythrocythemia SNOMEDCT_2005_07_31:165401000 thyroid malformation DOID:8433 NCI:C27331 UMLS_CUI:C0877367 disease_ontology Drug dependence complicating pregnancy, childbirth, or the puerperium DOID:10227 DOID:13136 DOID:8434 DOID:8435 Drug dependence, antepartum Pregnancy and drug dependence Pregnancy and drug dependence (disorder) disease_ontology drug dependence of mother with delivery postpartum drug dependence true Pregnancy and drug dependence (disorder) SNOMEDCT_2005_07_31:237228001 Pregnancy and drug dependence SNOMEDCT_2005_07_31:199250005 intestinal obstruction DOID:8437 ICD10CM:K56.60 ICD10CM:K56.69 ICD9CM:560.9 MSH:D007415 NCI:C9175 SNOMEDCT_US_2015_03_01:155771002 SNOMEDCT_US_2015_03_01:155777003 SNOMEDCT_US_2015_03_01:197072007 SNOMEDCT_US_2015_03_01:197073002 SNOMEDCT_US_2015_03_01:197074008 SNOMEDCT_US_2015_03_01:197080000 SNOMEDCT_US_2015_03_01:266523009 SNOMEDCT_US_2015_03_01:81060008 UMLS_CUI:C0021843 disease_ontology afferent loop syndrome Afferent loop syndrome (disorder) DOID:8438 MSH:D000343 SNOMEDCT_US_2015_03_01:20813000 UMLS_CUI:C0001727 disease_ontology Afferent loop syndrome (disorder) SNOMEDCT_2005_07_31:20813000 postgastrectomy syndrome DOID:8439 ICD10CM:K91.1 ICD9CM:564.2 MSH:D011178 Postgastric surgery syndrome (disorder) SNOMEDCT_US_2015_03_01:155785007 SNOMEDCT_US_2015_03_01:197126006 SNOMEDCT_US_2015_03_01:197128007 SNOMEDCT_US_2015_03_01:197129004 SNOMEDCT_US_2015_03_01:266527005 SNOMEDCT_US_2015_03_01:80193009 UMLS_CUI:C0032763 disease_ontology Postgastric surgery syndrome (disorder) SNOMEDCT_2005_07_31:80193009 chronic depressive disorder DOID:844 chronic depression (disorder) chronic depressive personality disorder disease_ontology true ICD9CM_2006:301.12 chronic depressive personality disorder SNOMEDCT_2005_07_31:192080009 chronic depression (disorder) ileus DOID:8440 Ileus of intestine MSH:D045823 NCI:C37979 SNOMEDCT_US_2015_03_01:278524008 SNOMEDCT_US_2015_03_01:81060008 UMLS_CUI:C1258215 disease_ontology Ileus of intestine MTHICD9_2006:560.1 paralytic ileus DOID:8442 ICD10CM:K56.0 ICD9CM:560.1 MSH:D007418 NCI:C93045 Paralysis of intestine or colon Paralytic ileus Paralytic ileus (disorder) SNOMEDCT_US_2015_03_01:155773004 SNOMEDCT_US_2015_03_01:55525008 UMLS_CUI:C0030446 disease_ontology Paralytic ileus (disorder) SNOMEDCT_2005_07_31:55525008 MTHICD9_2006:560.1 Paralysis of intestine or colon ICD9CM_2006:560.1 Paralytic ileus Paralytic ileus SNOMEDCT_2005_07_31:155773004 brachial plexus lesion A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. Brachial plexus lesions Brachial plexus lesions NOS (disorder) DOID:8443 ICD9CM:353.0 SNOMEDCT_US_2015_03_01:193109004 SNOMEDCT_US_2015_03_01:3548001 UMLS_CUI:C0006091 disease_ontology Brachial plexus lesions ICD9CM_2006:353.0 Brachial plexus lesions NOS (disorder) SNOMEDCT_2005_07_31:193109004 A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. url:http://en.wikipedia.org/wiki/Brachial_plexus_injury url:http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html nerve root and plexus disorder DOID:8444 disease_ontology true intestinal volvulus DOID:8445 ICD10CM:K56.2 ICD9CM:560.2 MSH:D045822 NCI:C98963 SNOMEDCT_US_2015_03_01:155774005 SNOMEDCT_US_2015_03_01:197057008 SNOMEDCT_US_2015_03_01:197061002 SNOMEDCT_US_2015_03_01:90738007 SNOMEDCT_US_2015_03_01:9707006 Twist of intestine, bowel, or colon UMLS_CUI:C0042961 Volvulus Volvulus (& [torsion of bowel]) Volvulus NOS (disorder) disease_ontology intestinal volvulus (disorder) ICD9CM_2006:560.2 Volvulus SNOMEDCT_2005_07_31:197061002 Volvulus NOS (disorder) MTHICD9_2006:560.2 Twist of intestine, bowel, or colon SNOMEDCT_2005_07_31:197057008 Volvulus (& [torsion of bowel]) SNOMEDCT_2005_07_31:9707006 intestinal volvulus (disorder) SNOMEDCT_2005_07_31:155774005 Volvulus intussusception DOID:8446 ICD10CM:K56.1 ICD9CM:560.0 Intussusception (morphologic abnormality) Intussusception NOS (disorder) Intussusception of intestine (disorder) Invagination of intestine or colon MSH:D007443 NCI:C113484 OMIM mapping confirmed by DO. [SN]. OMIM:147710 SNOMEDCT_US_2015_03_01:155772009 SNOMEDCT_US_2015_03_01:197055000 SNOMEDCT_US_2015_03_01:35327006 SNOMEDCT_US_2015_03_01:49723003 UMLS_CUI:C0021933 disease_ontology Intussusception of intestine (disorder) SNOMEDCT_2005_07_31:49723003 Intussusception (morphologic abnormality) SNOMEDCT_2005_07_31:35327006 Intussusception NOS (disorder) SNOMEDCT_2005_07_31:197055000 Invagination of intestine or colon MTHICD9_2006:560.0 intestinal impaction DOID:8448 ICD10CM:K56.4 ICD10CM:K56.49 ICD9CM:560.39 SNOMEDCT_US_2015_03_01:197540000 UMLS_CUI:C0029640 disease_ontology vitamin B deficiency DOID:8449 disease_ontology true cyclothymic disorder A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. Affective personality disorder Cycloid personality Cyclothymia Cyclothymic personality DOID:845 ICD10CM:F34.0 ICD9CM:301.1 ICD9CM:301.10 ICD9CM:301.13 MSH:D003527 SNOMEDCT_US_2015_03_01:14697007 SNOMEDCT_US_2015_03_01:191751008 SNOMEDCT_US_2015_03_01:191752001 SNOMEDCT_US_2015_03_01:191754000 SNOMEDCT_US_2015_03_01:191755004 SNOMEDCT_US_2015_03_01:192383002 SNOMEDCT_US_2015_03_01:268756002 SNOMEDCT_US_2015_03_01:286737005 SNOMEDCT_US_2015_03_01:386798001 SNOMEDCT_US_2015_03_01:76105009 UMLS_CUI:C0010598 disease_ontology A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. url:http://en.wikipedia.org/wiki/Mood_disorder Cycloid personality MTHICD9_2006:301.13 Affective personality disorder ICD9CM_2006:301.1 Cyclothymia SNOMEDCT_2005_07_31:192383002 Cyclothymic personality SNOMEDCT_2005_07_31:268756002 vitamin deficiency Avitaminosis, NOS DOID:8450 DOID:8451 avitaminosis disease_ontology true Avitaminosis, NOS SNOMEDCT_2005_07_31:85670002 malnutrition DOID:8452 disease_ontology true folic acid deficiency DOID:8453 Folic acid deficiency Folic acid deficiency (disorder) deficiency of folic acid (disorder) disease_ontology folate deficiency true Folic acid deficiency MTHICD9_2006:266.2 Folic acid deficiency (disorder) SNOMEDCT_2005_07_31:190633005 CSP2005:2116-7287 folate deficiency SNOMEDCT_2005_07_31:124913008 deficiency of folic acid (disorder) ariboflavinosis DOID:8454 ICD10CM:E53.0 ICD9CM:266.0 MSH:D012257 SNOMEDCT_US_2015_03_01:154726004 SNOMEDCT_US_2015_03_01:20307000 SNOMEDCT_US_2015_03_01:267492001 UMLS_CUI:C0035528 disease_ontology vitamin B2 deficiency MTHICD9_2006:266.0 vitamin B2 deficiency pyridoxine deficiency anemia DOID:8455 ICD10CM:E53.1 ICD9CM:266.1 MSH:D026681 NCI:C85221 SNOMEDCT_US_2015_03_01:18881008 SNOMEDCT_US_2015_03_01:386080007 UMLS_CUI:C0936215 disease_ontology vitamin B6 deficiency syndrome MTHICD9_2006:266.1 vitamin B6 deficiency syndrome choline deficiency disease Choline deficiency (disorder) DOID:8456 MSH:D002796 SNOMEDCT_US_2015_03_01:238113006 UMLS_CUI:C0008412 choline deficiency disease_ontology Choline deficiency (disorder) SNOMEDCT_2005_07_31:238113006 CSP2005:2116-7256 choline deficiency pellagra DOID:8457 ICD10CM:E52 ICD9CM:265.2 MSH:D010383 Niacin deficiency Niacin-tryptophan deficiency Pellagra (disorder) SNOMEDCT_US_2015_03_01:154725000 SNOMEDCT_US_2015_03_01:238127001 SNOMEDCT_US_2015_03_01:267491008 SNOMEDCT_US_2015_03_01:418186002 SNOMEDCT_US_2015_03_01:418279001 SNOMEDCT_US_2015_03_01:56550003 UMLS_CUI:C0030783 disease_ontology Niacin deficiency SNOMEDCT_2005_07_31:238127001 Pellagra (disorder) SNOMEDCT_2005_07_31:56550003 MTHICD9_2006:265.2 Niacin-tryptophan deficiency Thiamine and niacin deficiency state DOID:8458 disease_ontology true vitamin B 12 deficiency Cobalamin deficiency (disorder) DOID:8459 deficiency of vitamin B>12< (disorder) disease_ontology true vitamin B 12 deficiency vitamin B12 deficiency Cobalamin deficiency (disorder) SNOMEDCT_2005_07_31:190634004 MTHICD9_2006:266.2 vitamin B12 deficiency SNOMEDCT_2005_07_31:124904006 deficiency of vitamin B>12< (disorder) MTH:792 vitamin B 12 deficiency CSP2005:2116-7456 vitamin B12 deficiency arthropathy associated with hematological disorder DOID:846 disease_ontology true Aicardi syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. DOID:8461 MSH:D058540 NCI:C35256 OMIM mapping confirmed by DO. [SN]. OMIM:304050 ORDO:50 SNOMEDCT_US_2015_03_01:80651009 UMLS_CUI:C0175713 disease_ontology A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. url:http://en.wikipedia.org/wiki/Aicardi_syndrome url:http://ghr.nlm.nih.gov/condition/aicardi-syndrome corneal ulcer DOID:8463 ICD10CM:H16.0 ICD10CM:H16.00 ICD9CM:370.0 ICD9CM:370.00 MSH:D003320 NCI:C50515 SNOMEDCT_US_2015_03_01:155152009 SNOMEDCT_US_2015_03_01:193758008 SNOMEDCT_US_2015_03_01:193759000 SNOMEDCT_US_2015_03_01:193763007 SNOMEDCT_US_2015_03_01:91514001 UMLS_CUI:C0010043 disease_ontology flat retinoschisis DOID:8464 Flat retinoschisis (disorder) ICD9CM:361.11 SNOMEDCT_US_2015_03_01:193332006 SNOMEDCT_US_2015_03_01:83405000 UMLS_CUI:C0154817 disease_ontology Flat retinoschisis (disorder) SNOMEDCT_2005_07_31:83405000 retinoschisis DOID:8465 ICD10CM:H33.10 ICD9CM:361.10 MSH:D041441 NCI:C85046 Retinoschisis (disorder) Retinoschisis unspecified (disorder) Retinoschisis, unspecified SNOMEDCT_US_2015_03_01:193330003 SNOMEDCT_US_2015_03_01:389992006 SNOMEDCT_US_2015_03_01:44268007 UMLS_CUI:C0152439 disease_ontology Retinoschisis unspecified (disorder) SNOMEDCT_2005_07_31:193330003 Retinoschisis (disorder) SNOMEDCT_2005_07_31:44268007 ICD9CM_2006:361.10 Retinoschisis, unspecified retinal degeneration DOID:8466 MSH:D012162 NCI:C34979 RETINA degeneration SNOMEDCT_US_2015_03_01:95695004 UMLS_CUI:C0035304 degeneration of retina (disorder) disease_ontology retina degeneration MTH:649 RETINA degeneration CSP2005:1114-9354 retina degeneration SNOMEDCT_2005_07_31:95695004 degeneration of retina (disorder) Retinoschisis and retinal cysts DOID:8467 disease_ontology true influenza A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. DOID:8468 DOID:8469 ICD10CM:J11.1 ICD9CM:487 Influenza with non-respiratory manifestation (disorder) Influenza with other manifestations Influenza with other manifestations (disorder) Influenza with other manifestations NOS (disorder) MSH:D007251 NCI:C53482 SNOMEDCT_US_2015_03_01:155559006 SNOMEDCT_US_2015_03_01:155562009 SNOMEDCT_US_2015_03_01:195931008 SNOMEDCT_US_2015_03_01:266353003 SNOMEDCT_US_2015_03_01:266393000 SNOMEDCT_US_2015_03_01:6142004 UMLS_CUI:C0021400 disease_ontology flu influenza with non-respiratory manifestation Influenza with non-respiratory manifestation (disorder) SNOMEDCT_2005_07_31:61700007 A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. url:http://www.merck.com/mmhe/sec17/ch198/ch198d.html url:http://www.who.int/mediacentre/factsheets/2003/fs211/en/ Influenza with other manifestations (disorder) SNOMEDCT_2005_07_31:195927002 Influenza with other manifestations NOS (disorder) SNOMEDCT_2005_07_31:195930009 ICD9CM_2006:487.8 Influenza with other manifestations localized scleroderma Circumscribed scleroderma Circumscribed scleroderma NOS (disorder) DOID:8472 ICD10CM:L94.0 ICD9CM:701.0 MSH:D012594 Morphea NCI:C72069 SNOMEDCT_US_2015_03_01:201046006 SNOMEDCT_US_2015_03_01:201047002 SNOMEDCT_US_2015_03_01:201048007 SNOMEDCT_US_2015_03_01:201052007 SNOMEDCT_US_2015_03_01:90424004 Scleroderma, circumscribed or localized UMLS_CUI:C0036420 Unspecified circumscribed scleroderma (disorder) disease_ontology localised morphoea localized morphea (disorder) localized scleroderma (disorder) [Ambiguous] SNOMEDCT_2005_07_31:201047002 Unspecified circumscribed scleroderma (disorder) MTHICD9_2006:701.0 Scleroderma, circumscribed or localized SNOMEDCT_2005_07_31:201046006 localised morphoea Morphea SNOMEDCT_2005_07_31:156452007 Circumscribed scleroderma NOS (disorder) SNOMEDCT_2005_07_31:201052007 SNOMEDCT_2005_07_31:90424004 localized scleroderma (disorder) [Ambiguous] SNOMEDCT_2005_07_31:201048007 localized morphea (disorder) Circumscribed scleroderma ICD9CM_2006:701.0 Whipple disease DOID:8476 ICD10CM:K90.81 ICD9CM:040.2 MSH:D008061 NCI:C85228 SNOMEDCT_US_2015_03_01:41545003 UMLS_CUI:C0023788 Whipple's disease Whipple's disease (disorder) disease_ontology intestinal lipodystrophy MTHICD9_2006:040.2 intestinal lipodystrophy ICD9CM_2006:040.2 Whipple's disease CSP2005:1745-6360 Whipple's disease SNOMEDCT_2005_07_31:41545003 Whipple's disease (disorder) malabsorption syndrome DOID:8477 disease_ontology true actinomycosis A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. Actinomycotic madura foot (disorder) Actinomycotic mycetema Actinomycotic mycetoma of foot DOID:0050000 DOID:13079 DOID:8478 ICD10CM:A42 ICD10CM:A42.9 ICD9CM:039 ICD9CM:039.9 MSH:D000196 Madura foot due to Actinomadura (disorder) NCI:C34350 SNOMEDCT_US_2015_03_01:11817007 SNOMEDCT_US_2015_03_01:154314007 SNOMEDCT_US_2015_03_01:186402009 SNOMEDCT_US_2015_03_01:186405006 SNOMEDCT_US_2015_03_01:187335006 SNOMEDCT_US_2015_03_01:238416009 SNOMEDCT_US_2015_03_01:266185008 SNOMEDCT_US_2015_03_01:50508009 UMLS_CUI:C0001261 actinomycetoma actinomycotic infection boil disease_ontology Actinomycotic madura foot (disorder) SNOMEDCT_2005_07_31:82684004 Actinomycotic mycetema SNOMEDCT_2005_07_31:187089001 Actinomycotic mycetoma of foot SNOMEDCT_2005_07_31:186397005 Madura foot due to Actinomadura (disorder) SNOMEDCT_2005_07_31:37431000 A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. url:http://accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://emedicine.medscape.com/article/211587-overview url:http://en.wikipedia.org/wiki/Actinomycosis arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. DOID:848 ICD10CM:M19.90 Inflammatory disorder of joint MSH:D001168 NCI:C2883 SNOMEDCT_US_2015_03_01:202059001 SNOMEDCT_US_2015_03_01:363178003 SNOMEDCT_US_2015_03_01:372091005 SNOMEDCT_US_2015_03_01:3723001 UMLS_CUI:C0003864 arthritis disease_ontology A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. ls:IEDB url:http://arthritis.webmd.com/ url:http://en.wikipedia.org/wiki/Arthritis url:http://www.arthritis.org/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm Inflammatory disorder of joint SNOMEDCT_2005_07_31:363178003 CSP2005:2715-1134 arthritis rheumatic myocarditis DOID:14025 DOID:14036 DOID:8481 ICD10CM:I01.9 ICD10CM:I09.0 ICD10CM:M05.3 ICD9CM:391.9 ICD9CM:398.0 NCI:C34985 Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatic myocarditis Rheumatic myocarditis (disorder) Rheumatoid myocarditis (disorder) SNOMEDCT_US_2015_03_01:155270000 SNOMEDCT_US_2015_03_01:194713007 SNOMEDCT_US_2015_03_01:194750008 SNOMEDCT_US_2015_03_01:195136004 SNOMEDCT_US_2015_03_01:266285003 SNOMEDCT_US_2015_03_01:312591002 SNOMEDCT_US_2015_03_01:367538001 SNOMEDCT_US_2015_03_01:4536006 SNOMEDCT_US_2015_03_01:8805001 UMLS_CUI:C0035440 UMLS_CUI:C0489959 active rheumatic fever with myocarditis acute Rheumatic Myocarditis acute rheumatic carditis acute rheumatic myocarditis acute rheumatic myocarditis (disorder) acute rheumatic myocarditis (disorder) [Ambiguous] disease_ontology ICD9CM_2006:391.2 SNOMEDCT_2005_07_31:155269001 acute rheumatic myocarditis Rheumatoid myocarditis (disorder) SNOMEDCT_2005_07_31:195136004 SNOMEDCT_2005_07_31:194709000 acute rheumatic myocarditis (disorder) ICD9CM_2006:398.0 Rheumatic myocarditis SNOMEDCT_2005_07_31:4536006 acute rheumatic myocarditis (disorder) [Ambiguous] MTHICD9_2006:391.2 Rheumatic fever with myocarditis NCI2004_11_17:C35202 acute Rheumatic Myocarditis Rheumatic myocarditis (disorder) SNOMEDCT_2005_07_31:194750008 Rheumatic myocarditis SNOMEDCT_2005_07_31:266285003 transient retinal arterial occlusion DOID:8482 ICD10CM:H34.0 ICD9CM:362.34 NCI:C35193 Retinal transient arterial occlusion NOS (disorder) SNOMEDCT_US_2015_03_01:193377008 SNOMEDCT_US_2015_03_01:87224000 Transient arterial retinal occlusion (disorder) Transient retinal arterial occlusion UMLS_CUI:C0154840 disease_ontology SNOMEDCT_2005_07_31:87224000 Transient arterial retinal occlusion (disorder) Retinal transient arterial occlusion NOS (disorder) SNOMEDCT_2005_07_31:193377008 ICD9CM_2006:362.34 Transient retinal arterial occlusion retinal artery occlusion DOID:8483 MSH:D015356 NCI:C34978 Retinal artery occlusion (disorder) SNOMEDCT_US_2015_03_01:232035005 UMLS_CUI:C0035302 disease_ontology Retinal artery occlusion (disorder) SNOMEDCT_2005_07_31:232035005 maple bark strippers' lung An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. DOID:8484 ICD10CM:J67.6 ICD9CM:495.6 Maple bark-strippers' lung Maple-bark strippers' lung (disorder) SNOMEDCT_US_2015_03_01:86638007 UMLS_CUI:C0155890 alveolitis due to cryptostroma corticale disease_ontology maple bark disease maple bark stripper's disease maple bark stripper's lung ICD9CM_2006:495.6 Maple bark-strippers' lung An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. url:http://nt.ars-grin.gov/fungaldatabases/ url:http://www.ncbi.nlm.nih.gov/pubmed/2735559 Maple-bark strippers' lung (disorder) SNOMEDCT_2005_07_31:86638007 mucormycosis An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. DOID:0050087 DOID:8485 DOID:8486 Mucormycosis (disorder) Mucormycosis, unspecified Mucormycosis, unspecified (disorder) Phycomycosis or Mucormycosis Zygomycosis (disorder) Zygomycosis [Phycomycosis or Mucormycosis] Zygomycosis, unspecified (disorder) disease_ontology disseminated mucormycosis true zygomycosis Mucormycosis, unspecified SNOMEDCT_2005_07_31:187104007 An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. url:http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm ICD9CM_2006:117.7 Zygomycosis [Phycomycosis or Mucormycosis] Mucormycosis (disorder) SNOMEDCT_2005_07_31:76627001 MTHICD9_2006:117.7 Phycomycosis or Mucormycosis SNOMEDCT_2005_07_31:59277005 Zygomycosis (disorder) Mucormycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187501007 SNOMEDCT_2005_07_31:187496006 Zygomycosis, unspecified (disorder) secondary retinal cyst DOID:8487 disease_ontology secondary retinal cyst (disorder) secondary retinal cysts secondary retinal cysts (disorder) true SNOMEDCT_2005_07_31:56039006 secondary retinal cyst (disorder) ICD9CM_2006:361.14 secondary retinal cysts SNOMEDCT_2005_07_31:193334007 secondary retinal cysts (disorder) polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. DOID:8488 ICD10CM:O40 ICD9CM:657 ICD9CM:657.0 MSH:D006831 NCI:C92848 SNOMEDCT_US_2015_03_01:156188008 SNOMEDCT_US_2015_03_01:157052008 SNOMEDCT_US_2015_03_01:199644009 SNOMEDCT_US_2015_03_01:199645005 SNOMEDCT_US_2015_03_01:199648007 SNOMEDCT_US_2015_03_01:199650004 SNOMEDCT_US_2015_03_01:267261001 SNOMEDCT_US_2015_03_01:86203003 UMLS_CUI:C0020224 disease_ontology A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. url:http://en.wikipedia.org/wiki/Polyhydramnios disorder of amniotic fluid and membranes DOID:8489 disease_ontology true rheumatoid lung disease DOID:849 ICD9CM:714.81 Rheumatoid lung Rheumatoid lung disease (disorder) SNOMEDCT_US_2015_03_01:111280008 SNOMEDCT_US_2015_03_01:155621007 SNOMEDCT_US_2015_03_01:196132006 SNOMEDCT_US_2015_03_01:201794001 SNOMEDCT_US_2015_03_01:201813004 SNOMEDCT_US_2015_03_01:398726004 UMLS_CUI:C0994344 disease_ontology ICD9CM_2006:714.81 Rheumatoid lung Rheumatoid lung disease (disorder) SNOMEDCT_2005_07_31:398726004 Rheumatoid lung SNOMEDCT_2005_07_31:111280008 Rheumatoid lung SNOMEDCT_2005_07_31:196132006 Rheumatoid lung SNOMEDCT_2005_07_31:201813004 Rheumatoid lung SNOMEDCT_2005_07_31:201794001 Rheumatoid lung SNOMEDCT_2005_07_31:155621007 primary hypotonic uterine dysfunction DOID:8490 DOID:8496 DOID:8497 antepartum primary uterine inertia disease_ontology primary uterine inertia - delivered primary uterine inertia - delivered (disorder) primary uterine inertia, with delivery true ICD9CM_2006:661.01 primary uterine inertia, with delivery SNOMEDCT_2005_07_31:199819004 primary uterine inertia - delivered (disorder) Prolonged first stage of labor DOID:8491 disease_ontology true abnormality of forces of labor DOID:8493 disease_ontology true dystocia DOID:8494 disease_ontology true prolonged labor DOID:8495 disease_ontology true hereditary night blindness Congenital night blindness Congenital night blindness (disorder) [Ambiguous] Congenital night blindness NOS (disorder) DOID:8498 Hereditary night blindness NOS (disorder) ICD10CM:H53.63 ICD9CM:368.61 MSH:C537743 OMIM mapping confirmed by DO. [SN]. OMIM:258100 OMIM:613411 Oguchi's disease Oguchi's disease (disorder) SNOMEDCT_US_2015_03_01:193687000 SNOMEDCT_US_2015_03_01:193688005 SNOMEDCT_US_2015_03_01:193689002 SNOMEDCT_US_2015_03_01:89208008 UMLS_CUI:C1306122 disease_ontology Congenital night blindness NOS (disorder) SNOMEDCT_2005_07_31:193689002 Congenital night blindness (disorder) [Ambiguous] SNOMEDCT_2005_07_31:89208008 Hereditary night blindness NOS (disorder) SNOMEDCT_2005_07_31:193688005 Congenital night blindness ICD9CM_2006:368.61 MTHICD9_2006:368.61 Oguchi's disease Oguchi's disease (disorder) SNOMEDCT_2005_07_31:193687000 night blindness DOID:8499 ICD10CM:H53.6 ICD10CM:H53.60 ICD9CM:368.6 ICD9CM:368.60 MSH:D009755 NCI:C34850 NCI:C37997 SNOMEDCT_US_2015_03_01:155144006 SNOMEDCT_US_2015_03_01:193686009 SNOMEDCT_US_2015_03_01:193693008 SNOMEDCT_US_2015_03_01:65194006 SNOMEDCT_US_2015_03_01:75390007 UMLS_CUI:C0028077 disease_ontology lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. DOID:11894 DOID:11895 DOID:29 DOID:766 DOID:850 ICD10CM:J98.4 MSH:D008171 NCI:C3198 Non-neoplastic pulmonary disorder SNOMEDCT_US_2015_03_01:196164004 SNOMEDCT_US_2015_03_01:19829001 SNOMEDCT_US_2015_03_01:266374002 UMLS_CUI:C0024115 Updating out dated CUI and removing lung abscess as a synonym. disease_ontology non-neoplastic lung disorder A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. url:http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm NCI2004_11_17:C27557 Non-neoplastic pulmonary disorder hereditary retinal dystrophy DOID:8500 ICD10CM:H35.5 ICD10CM:H35.50 ICD9CM:362.7 ICD9CM:362.70 NCI:C35194 SNOMEDCT_US_2015_03_01:193399000 SNOMEDCT_US_2015_03_01:193417000 SNOMEDCT_US_2015_03_01:267615006 SNOMEDCT_US_2015_03_01:41799005 UMLS_CUI:C0154860 disease_ontology fundus dystrophy DOID:8501 MSH:D058499 NCI:C35625 Retinal Dystrophy SNOMEDCT_US_2015_03_01:314407005 UMLS_CUI:C0854723 disease_ontology NCI2004_11_17:C35625 Retinal Dystrophy bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. DOID:8502 ICD9CM:694.8 SNOMEDCT_US_2015_03_01:200916004 UMLS_CUI:C0079957 disease_ontology An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. url:http://en.wikipedia.org/wiki/Dermatitis_herpetiformis impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. DOID:8503 ICD10CM:L40.1 ICD9CM:694.3 Impetigo herpetiformis (disorder) SNOMEDCT_US_2015_03_01:200973000 SNOMEDCT_US_2015_03_01:65539006 UMLS_CUI:C1314968 disease_ontology Impetigo herpetiformis (disorder) SNOMEDCT_2005_07_31:65539006 An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. url:http://en.wikipedia.org/wiki/Impetigo_herpetiformis impetigo A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. DOID:8504 ICD10CM:L01 ICD10CM:L01.0 ICD10CM:L01.00 ICD9CM:684 MSH:D007169 NCI:C99088 SNOMEDCT_US_2015_03_01:156319000 SNOMEDCT_US_2015_03_01:200710001 SNOMEDCT_US_2015_03_01:267836006 SNOMEDCT_US_2015_03_01:48277006 UMLS_CUI:C0021099 disease_ontology A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. url:http://gsbs.utmb.edu/microbook/ch098.htm dermatitis herpetiformis DOID:8505 Dermatitis herpetiformis Dermatitis herpetiformis (disorder) Dermatitis herpetiformis [dup] (disorder) Dermatosis herpetiformis Duhring's disease ICD10CM:L13.0 ICD9CM:694.0 MSH:D003874 NCI:C26742 SNOMEDCT_US_2015_03_01:111196000 SNOMEDCT_US_2015_03_01:156354007 SNOMEDCT_US_2015_03_01:200899006 UMLS_CUI:C0011608 disease_ontology Dermatitis herpetiformis (disorder) SNOMEDCT_2005_07_31:111196000 Dermatitis herpetiformis [dup] (disorder) SNOMEDCT_2005_07_31:200899006 Dermatosis herpetiformis MTHICD9_2006:694.0 Dermatitis herpetiformis ICD9CM_2006:694.0 Dermatitis herpetiformis SNOMEDCT_2005_07_31:156354007 CSP2005:4008-0032 Duhring's disease bullous pemphigoid An autoimmune disease of skin and connective tissue characterized by large blisters. Bullous pemphigoid Bullous pemphigoid (disorder) DOID:8506 ICD10CM:L12 ICD10CM:L12.0 ICD10CM:L12.9 ICD9CM:694.5 MSH:D010391 NCI:C34908 NCI:C84389 SNOMEDCT_US_2015_03_01:156356009 SNOMEDCT_US_2015_03_01:200912002 SNOMEDCT_US_2015_03_01:77090002 SNOMEDCT_US_2015_03_01:86142006 UMLS_CUI:C0030805 disease_ontology An autoimmune disease of skin and connective tissue characterized by large blisters. sn:IEDB Bullous pemphigoid MTHICD9_2006:694.5 Bullous pemphigoid MTH:NOCODE Bullous pemphigoid (disorder) SNOMEDCT_2005_07_31:77090002 juvenile dermatitis herpetiformis DOID:8507 ICD10CM:L12.2 ICD9CM:694.2 Juvenile dermatitis herpetiformis (disorder) SNOMEDCT_US_2015_03_01:200900001 SNOMEDCT_US_2015_03_01:267799009 SNOMEDCT_US_2015_03_01:5906000 UMLS_CUI:C0152092 disease_ontology Juvenile dermatitis herpetiformis (disorder) SNOMEDCT_2005_07_31:5906000 subcorneal pustular dermatosis DOID:8508 ICD10CM:L13.1 ICD9CM:694.1 MSH:D012872 SNOMEDCT_US_2015_03_01:25147002 Sneddon-Wilkinson disease or syndrome Subcorneal pustular dermatosis Subcorneal pustular dermatosis (disorder) UMLS_CUI:C0600336 disease_ontology MTHICD9_2006:694.1 Sneddon-Wilkinson disease or syndrome SNOMEDCT_2005_07_31:25147002 Subcorneal pustular dermatosis (disorder) ICD9CM_2006:694.1 Subcorneal pustular dermatosis Bartholin's duct cyst Bartholin duct cyst Bartholin's Cyst Cyst of Bartholin's gland Cyst of Bartholin's gland duct (disorder) DOID:851 ICD10CM:N75.0 ICD9CM:616.2 NCI:C26706 SNOMEDCT_US_2015_03_01:155982004 SNOMEDCT_US_2015_03_01:27978000 SNOMEDCT_US_2015_03_01:57044006 UMLS_CUI:C0004767 disease_ontology Cyst of Bartholin's gland duct (disorder) SNOMEDCT_2005_07_31:57044006 Bartholin's Cyst NCI2004_11_17:C26706 Cyst of Bartholin's gland SNOMEDCT_2005_07_31:27978000 Cyst of Bartholin's gland ICD9CM_2006:616.2 Cyst of Bartholin's gland SNOMEDCT_2005_07_31:155982004 puerperal pulmonary embolism DOID:8512 ICD10CM:O88.21 ICD10CM:O88.23 ICD9CM:673 SNOMEDCT_US_2015_03_01:156273009 SNOMEDCT_US_2015_03_01:200284000 SNOMEDCT_US_2015_03_01:200320009 SNOMEDCT_US_2015_03_01:200321008 SNOMEDCT_US_2015_03_01:200326003 SNOMEDCT_US_2015_03_01:237341004 SNOMEDCT_US_2015_03_01:50286006 UMLS_CUI:C0157540 disease_ontology acute pulmonary heart disease DOID:8514 ICD9CM:415 SNOMEDCT_US_2015_03_01:155324005 SNOMEDCT_US_2015_03_01:194880009 SNOMEDCT_US_2015_03_01:194884000 SNOMEDCT_US_2015_03_01:67189007 UMLS_CUI:C0155671 acute pulmonary heart disease (disorder) acute pulmonary heart disease NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:194884000 acute pulmonary heart disease NOS (disorder) SNOMEDCT_2005_07_31:67189007 acute pulmonary heart disease (disorder) Cor pulmonale A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. DOID:8515 ICD10CM:I27.81 ICD10CM:I27.9 MSH:D011660 SNOMEDCT_US_2015_03_01:155323004 SNOMEDCT_US_2015_03_01:155329000 SNOMEDCT_US_2015_03_01:194879006 SNOMEDCT_US_2015_03_01:266294009 SNOMEDCT_US_2015_03_01:274096000 SNOMEDCT_US_2015_03_01:286952009 SNOMEDCT_US_2015_03_01:83291003 UMLS_CUI:C0034072 cardiopulmonary disease disease_ontology pulmonary heart disease A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. url:http://en.wikipedia.org/wiki/Cor_pulmonale url:http://en.wikipedia.org/wiki/Heart_disease SNOMEDCT_2005_07_31:155323004 pulmonary heart disease CSP2005:2595-5525 cardiopulmonary disease pulmonary embolism and infarction DOID:8516 ICD9CM:415.1 SNOMEDCT_US_2015_03_01:1001000119102 UMLS_CUI:C0034066 disease_ontology acute cor pulmonale DOID:8517 ICD10CM:I26.09 ICD9CM:415.0 SNOMEDCT_US_2015_03_01:155325006 SNOMEDCT_US_2015_03_01:194881008 SNOMEDCT_US_2015_03_01:49584005 UMLS_CUI:C0155672 acute cor pulmonale (disorder) disease_ontology SNOMEDCT_2005_07_31:49584005 acute cor pulmonale (disorder) barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. DOID:8519 ICD9CM:305.43 UMLS_CUI:C0154529 disease_ontology A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Barbiturate recurrent manic episodes DOID:8521 disease_ontology true nodular lymphoma involving lymph nodes of axilla and upper limb DOID:8523 disease_ontology nodular lymphoma of lymph nodes of axilla and upper limb (disorder) true SNOMEDCT_2005_07_31:188612002 nodular lymphoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:95189004 nodular lymphoma of lymph nodes of axilla and upper limb (disorder) nodular lymphoma DOID:8524 DOID:8603 Follicle Center Lymphoma Follicular low grade B-cell lymphoma (disorder) Follicular non-Hodgkin's lymphoma (disorder) Giant follicular lymphosarcoma OMIM mapping confirmed by DO. [SN]. disease_ontology follicular lymphoma malignant lymphoma, follicle centre malignant lymphoma, nodular NOS (morphologic abnormality) nodular lymphoma (Brill - Symmers disease) true Follicular low grade B-cell lymphoma (disorder) SNOMEDCT_2005_07_31:277618009 CSP2005:4001-0094 follicular lymphoma Follicle Center Lymphoma NCI2004_11_17:C3209 Follicular non-Hodgkin's lymphoma (disorder) SNOMEDCT_2005_07_31:308121000 Giant follicular lymphosarcoma MTHICD9_2006:202.0 SNOMEDCT_2005_07_31:269510001 malignant lymphoma, nodular NOS (morphologic abnormality) SNOMEDCT_2005_07_31:188607003 nodular lymphoma (Brill - Symmers disease) SNOMEDCT_2005_07_31:55150002 malignant lymphoma, follicle centre nodular lymphoma involving intra-abdominal lymph nodes DOID:8525 disease_ontology true monocytic leukemia DOID:8526 DOID:8527 DOID:8809 DOID:8884 DOID:8935 DOID:9151 ICD10CM:C93.Z ICD10CM:C93.Z0 ICD9CM:206.8 SNOMEDCT_US_2015_03_01:188747004 SNOMEDCT_US_2015_03_01:188749001 SNOMEDCT_US_2015_03_01:190062007 SNOMEDCT_US_2015_03_01:190160002 Schilling's leukemia UMLS_CUI:C0153903 disease_ontology CSP2005:2004-2820 Schilling's leukemia ulcer of lower limbs DOID:8528 DOID:8529 DOID:8610 DOID:8655 DOID:9034 DOID:9086 DOID:9200 DOID:9237 Ulcer of ankle Ulcer of calf Ulcer of calf (disorder) Ulcer of heel and midfoot Ulcer of lower limb, unspecified Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. Ulcer of other part of foot Ulcer of other part of lower limb Ulcer of thigh disease_ontology Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer SNOMEDCT_2005_07_31:301023008 Ulcer of calf (disorder) polymyalgia rheumatica DOID:853 ICD10CM:M35.3 ICD9CM:725 MSH:D011111 NCI:C85018 Polymyalgia rheumatica Polymyalgia rheumatica (disorder) Polymyalgia rheumatica [dup] (disorder) SNOMEDCT_US_2015_03_01:156656001 SNOMEDCT_US_2015_03_01:202834009 SNOMEDCT_US_2015_03_01:267988003 SNOMEDCT_US_2015_03_01:65323003 UMLS_CUI:C0032533 disease_ontology Polymyalgia rheumatica SNOMEDCT_2005_07_31:156656001 Polymyalgia rheumatica SNOMEDCT_2005_07_31:202834009 ICD9CM_2006:725 Polymyalgia rheumatica Polymyalgia rheumatica (disorder) SNOMEDCT_2005_07_31:65323003 Polymyalgia rheumatica [dup] (disorder) SNOMEDCT_2005_07_31:267988003 toxic gastroenteritis and colitis DOID:8530 disease_ontology true hypopharynx cancer A pharynx cancer that is located_in the hypopharynx. DOID:12202 DOID:8532 DOID:8533 DOID:9160 Hypopharyngeal cancer ICD10CM:C13 ICD10CM:C13.2 ICD10CM:C13.9 ICD9CM:148 ICD9CM:148.3 ICD9CM:148.9 MSH:D007012 NCI:C7190 SNOMEDCT_US_2015_03_01:187712005 SNOMEDCT_US_2015_03_01:187717004 SNOMEDCT_US_2015_03_01:303012000 SNOMEDCT_US_2015_03_01:363399006 SNOMEDCT_US_2015_03_01:93831006 SNOMEDCT_US_2015_03_01:93968005 UMLS_CUI:C0153398 UMLS_CUI:C0496770 disease_ontology malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant neoplasm of hypopharynx NOS malignant neoplasm of hypopharynx NOS (disorder) malignant neoplasm of hypopharynx, NOS malignant neoplasm of ill-defined sites within the lip and oral cavity malignant neoplasm of other specified hypopharyngeal site (disorder) malignant neoplasm of other specified sites of hypopharynx malignant neoplasm of posterior hypopharyngeal wall malignant neoplasm of posterior wall of hypopharynx malignant tumor of hypopharynx (disorder) malignant tumor of posterior wall of hypopharynx (disorder) malignant tumour of hypopharynx SNOMEDCT_2005_07_31:187711003 malignant neoplasm of other specified hypopharyngeal site (disorder) ICD9CM_2006:148 malignant neoplasm of hypopharynx SNOMEDCT_2005_07_31:187712005 malignant neoplasm of hypopharynx NOS (disorder) SNOMEDCT_2005_07_31:303012000 malignant tumor of posterior wall of hypopharynx (disorder) A pharynx cancer that is located_in the hypopharynx. url:http://en.wikipedia.org/wiki/Hypopharynx NCI2004_11_17:C7190 malignant Hypopharyngeal tumor SNOMEDCT_2005_07_31:363399006 malignant tumor of hypopharynx (disorder) MTH:U001377 malignant neoplasm of posterior wall of hypopharynx MTHICD9_2006:148.9 malignant neoplasm of hypopharynx NOS SNOMEDCT_2005_07_31:93831006 malignant neoplasm of hypopharynx, NOS SNOMEDCT_2005_07_31:187717004 malignant tumour of hypopharynx Hypopharyngeal cancer MTH:NOCODE gastroesophageal reflux disease Acid reflux DOID:8534 GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux Gastroesophageal reflux disease ICD10CM:K21 ICD10CM:K21.9 ICD9CM:530.81 MSH:D005764 NCI:C26781 NCI:C92560 OMIM mapping confirmed by DO. [SN]. OMIM:109350 SNOMEDCT_US_2015_03_01:102620007 SNOMEDCT_US_2015_03_01:155673008 SNOMEDCT_US_2015_03_01:196600005 SNOMEDCT_US_2015_03_01:196624002 SNOMEDCT_US_2015_03_01:235595009 SNOMEDCT_US_2015_03_01:266498005 SNOMEDCT_US_2015_03_01:54856001 SNOMEDCT_US_2015_03_01:698065002 UMLS_CUI:C0017168 disease_ontology Gastro-esophageal reflux SNOMEDCT_2005_07_31:266498005 Gastro-esophageal reflux SNOMEDCT_2005_07_31:155673008 GERD NCI2004_11_17:C26781 Gastroesophageal reflux MTHICD9_2006:530.81 Acid reflux SNOMEDCT_2005_07_31:196624002 Gastresophageal reflux SNOMEDCT_2005_07_31:102620007 GERD - Gastro-esophageal reflux disease SNOMEDCT_2005_07_31:235595009 Gastroesophageal reflux disease MTH:NOCODE ophthalmic herpes zoster A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. DOID:8535 DOID:9101 Herpes zoster ophthalmicus Herpes zoster ophthalmicus (disorder) Herpes zoster with ophthalmic complication (disorder) Herpes zoster with other ophthalmic complication (disorder) Ophthalmic herpes zoster infection disease_ontology herpes zoster with other ophthalmic complications true Herpes zoster with other ophthalmic complication (disorder) SNOMEDCT_2005_07_31:186527004 Herpes zoster ophthalmicus (disorder) SNOMEDCT_2005_07_31:87513003 Herpes zoster ophthalmicus MTHICD9_2006:053.20 Ophthalmic herpes zoster infection SNOMEDCT_2005_07_31:186526008 Herpes zoster with ophthalmic complication (disorder) SNOMEDCT_2005_07_31:186524006 A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. url:http://emedicine.medscape.com/article/783223-overview herpes zoster A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. DOID:8536 DOID:8554 DOID:8555 DOID:8772 DOID:8801 DOID:9085 ICD10CM:B02 ICD10CM:B02.9 ICD9CM:053 MSH:D006562 NCI:C71079 SNOMEDCT_US_2015_03_01:154326002 SNOMEDCT_US_2015_03_01:186514003 SNOMEDCT_US_2015_03_01:186533008 SNOMEDCT_US_2015_03_01:4740000 Shingles UMLS_CUI:C0019360 disease_ontology herpes zona CSP2005:3099-9793 herpes zona SNOMEDCT_2005_07_31:186514003 Shingles A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. url:http://en.wikipedia.org/wiki/Herpes_zoster url:http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm reticulosarcoma DOID:8537 DOID:8538 ICD9CM:200.0 ICD9CM:200.7 MSH:D008228 NCI:C27824 OMIM mapping confirmed by DO. [SN]. OMIM:267730 SNOMEDCT_US_2015_03_01:118604003 SNOMEDCT_US_2015_03_01:154579006 SNOMEDCT_US_2015_03_01:188488003 SNOMEDCT_US_2015_03_01:188497004 SNOMEDCT_US_2015_03_01:189982000 SNOMEDCT_US_2015_03_01:189983005 SNOMEDCT_US_2015_03_01:189986002 SNOMEDCT_US_2015_03_01:190012002 SNOMEDCT_US_2015_03_01:373168002 SNOMEDCT_US_2015_03_01:40152000 UMLS_CUI:C0024302 disease_ontology histiocytic lymphoma large-cell Lymphomas MTH:NOCODE large-cell Lymphomas CSP2005:2004-7036 histiocytic lymphoma recurrent manic episodes in full remission DOID:8539 Manic disorder, recurrent episode, in full remission disease_ontology recurrent manic episodes, in full remission (disorder) true SNOMEDCT_2005_07_31:191597008 recurrent manic episodes, in full remission (disorder) ICD9CM_2006:296.16 Manic disorder, recurrent episode, in full remission collagen disease DOID:854 MSH:D003095 NCI:C27204 SNOMEDCT_US_2015_03_01:156458006 SNOMEDCT_US_2015_03_01:201434000 SNOMEDCT_US_2015_03_01:201454004 SNOMEDCT_US_2015_03_01:268048008 SNOMEDCT_US_2015_03_01:81573002 UMLS_CUI:C0009326 collagen disorder disease_ontology CSP2005:0729-7550 collagen disorder Sezary's disease involving lymph nodes of head, face, and neck DOID:8540 Sezary's disease involving lymph nodes of head, face and neck Sezary's disease of lymph nodes of head, face and neck (disorder) Szary's disease of lymph nodes of head, face and/or neck (disorder) disease_ontology true SNOMEDCT_2005_07_31:95260009 Szary's disease of lymph nodes of head, face and/or neck (disorder) MTHICD9_2006:202.21 Sezary's disease involving lymph nodes of head, face and neck SNOMEDCT_2005_07_31:188630009 Sezary's disease of lymph nodes of head, face and neck (disorder) Sezary's disease DOID:8541 DOID:8790 ICD10CM:C84.1 ICD10CM:C84.10 ICD9CM:202.2 MSH:D012751 NCI:C3366 SNOMEDCT_US_2015_03_01:118611004 SNOMEDCT_US_2015_03_01:188629004 SNOMEDCT_US_2015_03_01:188638002 SNOMEDCT_US_2015_03_01:4950009 Sezary disease Sezary syndrome UMLS_CUI:C0036920 disease_ontology MTH:U002240 Sezary syndrome Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb DOID:8542 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93496009 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188558005 Hodgkin's lymphoma, lymphocytic-histiocytic predominance DOID:8543 Hodgkin lymphoma, lymphocyte-rich (disorder) Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance [obs] ICD10CM:C81.4 ICD9CM:201.4 Lymphocyte Rich Hodgkin's disease MSH:D006689 NCI:C6913 SNOMEDCT_US_2015_03_01:118607005 SNOMEDCT_US_2015_03_01:128799007 SNOMEDCT_US_2015_03_01:188553001 SNOMEDCT_US_2015_03_01:188563009 SNOMEDCT_US_2015_03_01:189988001 SNOMEDCT_US_2015_03_01:59668005 UMLS_CUI:C1266194 disease_ontology Hodgkin's disease, lymphocyte predominance [obs] SNOMEDCT_2005_07_31:128799007 Hodgkin lymphoma, lymphocyte-rich (disorder) SNOMEDCT_2005_07_31:118607005 Lymphocyte Rich Hodgkin's disease NCI2004_11_17:C6913 chronic fatigue syndrome A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. CFS DOID:8544 ICD10CM:G93.3 ICD10CM:R53.82 ICD9CM:780.71 MSH:D015673 Myalgic encephalitis Myalgic encephalomyelitis NCI:C3037 No OMIM mapping, confirmed by DO. [LS]. Postviral fatigue syndrome (disorder) SNOMEDCT_US_2015_03_01:154989001 SNOMEDCT_US_2015_03_01:154991009 SNOMEDCT_US_2015_03_01:155062000 SNOMEDCT_US_2015_03_01:192735003 SNOMEDCT_US_2015_03_01:193054000 SNOMEDCT_US_2015_03_01:247372003 SNOMEDCT_US_2015_03_01:267683005 SNOMEDCT_US_2015_03_01:267684004 SNOMEDCT_US_2015_03_01:271798008 SNOMEDCT_US_2015_03_01:51771007 SNOMEDCT_US_2015_03_01:52702003 UMLS_CUI:C0015674 disease_ontology CFS CSP2005:0944-7840 Myalgic encephalomyelitis SNOMEDCT_2005_07_31:154991009 A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. url:http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/?term=Chronic%20fatigue%20syndrome Myalgic encephalitis SNOMEDCT_2005_07_31:154989001 Postviral fatigue syndrome (disorder) SNOMEDCT_2005_07_31:51771007 malignant hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. DOID:8545 ICD10CM:T88.3 ICD9CM:995.86 MSH:D008305 NCI:C84869 OMIM:145600 OMIM:154275 OMIM:154576 OMIM:600467 OMIM:601887 OMIM:601888 ORDO:423 SNOMEDCT_US_2015_03_01:111738008 SNOMEDCT_US_2015_03_01:157762007 SNOMEDCT_US_2015_03_01:213026003 SNOMEDCT_US_2015_03_01:248453001 SNOMEDCT_US_2015_03_01:269435009 SNOMEDCT_US_2015_03_01:405500008 SNOMEDCT_US_2015_03_01:405501007 UMLS_CUI:C0024591 Xref MGI. OMIM mapping confirmed by DO. [SN]. anesthesia related hyperthermia disease_ontology malignant hyperpyrexia due to anesthesia MTHICD9_2006:995.86 malignant hyperpyrexia due to anesthesia CSP2005:2871-4352 anesthesia related hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. url:http://en.wikipedia.org/wiki/Malignant_hyperthermia chronic ulcer of skin Callous ulcer (morphologic abnormality) DOID:8548 DOID:8549 DOID:8733 ICD10CM:L98.4 ICD9CM:707 Indolent ulcer (morphologic abnormality) SNOMEDCT_US_2015_03_01:156423009 SNOMEDCT_US_2015_03_01:156426001 SNOMEDCT_US_2015_03_01:19429009 SNOMEDCT_US_2015_03_01:201259007 UMLS_CUI:C0157738 disease_ontology Indolent ulcer (morphologic abnormality) SNOMEDCT_2005_07_31:296375005 Callous ulcer (morphologic abnormality) SNOMEDCT_2005_07_31:295358007 chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells. CML CML - chronic Myelogenous Leukemia DOID:8551 DOID:8552 DOID:8606 EFO:0000339 ICD9CM:205.1 KEGG:05220 MSH:D015464 Myeloid Leukemia, chronic NCI:C3174 OMIM mapping confirmed by DO. [SN]. OMIM:608232 SNOMEDCT_US_2015_03_01:154592009 SNOMEDCT_US_2015_03_01:188735005 SNOMEDCT_US_2015_03_01:63364005 SNOMEDCT_US_2015_03_01:92818009 UMLS_CUI:C0023473 chronic granulocytic leukemia chronic myelogenous leukemia disease_ontology MTH:NOCODE Myeloid Leukemia, chronic A myeloid leukemia that is characterized by over production of white blood cells. url:http://www.cancer.gov/dictionary?CdrID=46755 CML CSP2005:2004-1700 CML - chronic Myelogenous Leukemia NCI2004_11_17:C3174 pyoderma gangrenosum DOID:8553 ICD10CM:L88 ICD9CM:686.01 MSH:D017511 Pyoderma gangrenosum (disorder) SNOMEDCT_US_2015_03_01:74578003 UMLS_CUI:C0085652 disease_ontology Pyoderma gangrenosum (disorder) SNOMEDCT_2005_07_31:74578003 vallecula cancer DOID:8556 ICD10CM:C10.0 ICD9CM:146.3 SNOMEDCT_US_2015_03_01:363395000 SNOMEDCT_US_2015_03_01:94132005 UMLS_CUI:C0153386 disease_ontology malignant tumor of vallecula (disorder) SNOMEDCT_2005_07_31:363395000 malignant tumor of vallecula (disorder) oropharynx cancer A pharynx cancer that is located_in the oropharynx. DOID:8557 DOID:8684 DOID:8851 DOID:8949 DOID:9168 ICD10CM:C10 ICD10CM:C10.2 ICD10CM:C10.3 ICD10CM:C10.8 ICD10CM:C10.9 ICD9CM:146 ICD9CM:146.5 ICD9CM:146.6 ICD9CM:146.7 ICD9CM:146.9 NCI:C7398 Oropharyngeal carcinoma SNOMEDCT_US_2015_03_01:187686007 SNOMEDCT_US_2015_03_01:187688008 SNOMEDCT_US_2015_03_01:187691008 SNOMEDCT_US_2015_03_01:363392002 SNOMEDCT_US_2015_03_01:373653002 SNOMEDCT_US_2015_03_01:448868009 SNOMEDCT_US_2015_03_01:93933005 SNOMEDCT_US_2015_03_01:93971002 UMLS_CUI:C0153382 UMLS_CUI:C0153388 UMLS_CUI:C0153389 UMLS_CUI:C0153390 disease_ontology malignant Oropharyngeal tumor malignant neoplasm of junctional region of oropharynx malignant neoplasm of lateral wall of oropharynx malignant neoplasm of oropharynx malignant neoplasm of posterior wall of oropharynx malignant tumor of oropharynx (disorder) malignant tumor of posterior wall of oropharynx (disorder) malignant tumour of mesopharynx (disorder) oropharyngeal cancer primary malignant neoplasm of lateral wall of oropharynx SNOMEDCT_2005_07_31:187688008 malignant tumor of posterior wall of oropharynx (disorder) CSP2005:2013-1302 oropharyngeal cancer SNOMEDCT_2005_07_31:373653002 malignant tumour of mesopharynx (disorder) A pharynx cancer that is located_in the oropharynx. url:http://www.cancer.gov/dictionary?CdrID=446523 NCI2004_11_17:C9105 Oropharyngeal carcinoma MTH:NOCODE malignant neoplasm of oropharynx SNOMEDCT_2005_07_31:363392002 malignant tumor of oropharynx (disorder) NCI2004_11_17:C7398 malignant Oropharyngeal tumor SNOMEDCT_2005_07_31:93862005 primary malignant neoplasm of lateral wall of oropharynx MTH:U000704 malignant neoplasm of lateral wall of oropharynx carcinoma in situ of female genital organs DOID:8559 carcinoma in situ of other and unspecified female genital organs (disorder) disease_ontology true SNOMEDCT_2005_07_31:189344000 carcinoma in situ of other and unspecified female genital organs (disorder) biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase. BTD deficiency DOID:856 ICD10CM:D81.810 Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency MSH:D028921 NCI:C84598 OMIM mapping confirmed by DO. [SN]. OMIM:253260 SNOMEDCT_US_2015_03_01:124513002 SNOMEDCT_US_2015_03_01:8808004 UMLS_CUI:C0220754 deficiency of biotinidase (disorder) disease_ontology SNOMEDCT_2005_07_31:124513002 deficiency of biotinidase (disorder) A multiple carboxylase deficiency that involves a deficiency in biotinidase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 carcinoma in situ of breast and genitourinary system DOID:8560 carcinoma in situ of breast and genitourinary system (disorder) disease_ontology true SNOMEDCT_2005_07_31:189335001 carcinoma in situ of breast and genitourinary system (disorder) lip cancer DOID:8563 DOID:8564 DOID:8605 DOID:8975 DOID:9031 DOID:9135 ICD10CM:C00 ICD10CM:C00.9 ICD9CM:140 ICD9CM:140.6 ICD9CM:140.8 MSH:D008048 NCI:C7485 SNOMEDCT_US_2015_03_01:187599002 SNOMEDCT_US_2015_03_01:187625008 SNOMEDCT_US_2015_03_01:187626009 SNOMEDCT_US_2015_03_01:309808004 SNOMEDCT_US_2015_03_01:363348004 SNOMEDCT_US_2015_03_01:363374005 SNOMEDCT_US_2015_03_01:93762003 SNOMEDCT_US_2015_03_01:93869001 UMLS_CUI:C0153340 UMLS_CUI:C0153346 UMLS_CUI:C0153347 disease_ontology malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip unspecified, inner aspect (disorder) malignant neoplasm of lip, inner aspect malignant neoplasm of lip, inner aspect NOS (disorder) malignant neoplasm of lip, unspecified malignant neoplasm of lip, unspecified (disorder) malignant neoplasm of lip, unspecified, external (disorder) malignant neoplasm of lip, unspecified, inner aspect malignant neoplasm of lip, unspecified, vermilion border malignant neoplasm of lip, vermilion border NOS (disorder) malignant neoplasm of lower lip, buccal aspect (disorder) malignant neoplasm of lower lip, inner aspect NOS (disorder) malignant neoplasm of lower lip, mucosa (disorder) malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of other sites of lip (disorder) malignant neoplasm of vermilion border of lip malignant neoplasm of vermilion border of lip unspecified (disorder) malignant tumor of commissure of lip malignant tumor of commissure of lip (disorder) malignant tumor of labial mucosa (disorder) malignant tumor of lip (disorder) malignant tumor of lower labial mucosa (disorder) malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip SNOMEDCT_2005_07_31:187628005 malignant neoplasm of lip, unspecified, external (disorder) SNOMEDCT_2005_07_31:187613005 malignant neoplasm of lower lip, buccal aspect (disorder) MTHICD9_2006:140.6 malignant neoplasm of labial commissure of lip SNOMEDCT_2005_07_31:187627000 malignant neoplasm of vermilion border of lip unspecified (disorder) SNOMEDCT_2005_07_31:363348004 malignant tumor of lip (disorder) SNOMEDCT_2005_07_31:93869001 malignant tumour of lip SNOMEDCT_2005_07_31:363374005 malignant tumor of commissure of lip (disorder) SNOMEDCT_2005_07_31:93762003 malignant tumour of labial commissure SNOMEDCT_2005_07_31:187622006 malignant tumor of labial mucosa (disorder) MTHICD9_2006:140.5 malignant neoplasm of oral aspect of lip, not specified whether upper or lower MTHICD9_2006:140.4 malignant neoplasm of lower lip, oral aspect SNOMEDCT_2005_07_31:187623001 malignant neoplasm of lip, inner aspect NOS (disorder) MTHICD9_2006:140.9 malignant neoplasm of external Lip, not specified as upper or lower NCI2004_11_17:C7485 malignant tumor of the Lip SNOMEDCT_2005_07_31:187617006 malignant neoplasm of lower lip, inner aspect NOS (disorder) SNOMEDCT_2005_07_31:187630007 malignant neoplasm of lip, vermilion border NOS (disorder) SNOMEDCT_2005_07_31:187615003 malignant neoplasm of lower lip, mucosa (disorder) SNOMEDCT_2005_07_31:271568003 malignant tumor of lower labial mucosa (disorder) SNOMEDCT_2005_07_31:187618001 malignant neoplasm of lip unspecified, inner aspect (disorder) SNOMEDCT_2005_07_31:309808004 malignant neoplasm of lip, unspecified (disorder) SNOMEDCT_2005_07_31:94135007 malignant neoplasm of vermilion border of lip MTH:NOCODE malignant tumor of commissure of lip SNOMEDCT_2005_07_31:187626009 malignant neoplasm of other sites of lip (disorder) SNOMEDCT_2005_07_31:187625008 malignant neoplasm of lip, unspecified MTH:NOCODE malignant neoplasm of lip, inner aspect herpes simplex A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. DOID:8566 DOID:8763 DOID:9012 DOID:9239 Herpesvirus hominis disease ICD10CM:B00 ICD10CM:B00.9 ICD9CM:054 MSH:D006561 SNOMEDCT_US_2015_03_01:154332007 SNOMEDCT_US_2015_03_01:186534002 SNOMEDCT_US_2015_03_01:266191005 SNOMEDCT_US_2015_03_01:88594005 UMLS_CUI:C0019348 disease_ontology A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html CSP2005:3099-9580 Herpesvirus hominis disease Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. DOID:0060059 DOID:8567 DOID:8652 DOID:8671 DOID:8685 DOID:8710 DOID:8715 DOID:8841 DOID:8953 DOID:9096 DOID:9107 EFO:0000183 HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma ICD10CM:C81 ICD10CM:C81.9 ICD9CM:201 ICD9CM:201.0 ICD9CM:201.1 ICD9CM:201.2 ICD9CM:201.9 MSH:D006689 NCI:C26956 NCI:C6914 NCI:C9357 OMIM:236000 OMIM:300221 OMIM:400021 ORDO:98293 SNOMEDCT_US_2015_03_01:118599009 SNOMEDCT_US_2015_03_01:118602004 SNOMEDCT_US_2015_03_01:118605002 SNOMEDCT_US_2015_03_01:118606001 SNOMEDCT_US_2015_03_01:14537002 SNOMEDCT_US_2015_03_01:154582001 SNOMEDCT_US_2015_03_01:188521005 SNOMEDCT_US_2015_03_01:188522003 SNOMEDCT_US_2015_03_01:188532005 SNOMEDCT_US_2015_03_01:188533000 SNOMEDCT_US_2015_03_01:188542007 SNOMEDCT_US_2015_03_01:188543002 SNOMEDCT_US_2015_03_01:188552006 SNOMEDCT_US_2015_03_01:188595005 SNOMEDCT_US_2015_03_01:188596006 SNOMEDCT_US_2015_03_01:188605006 SNOMEDCT_US_2015_03_01:189987006 SNOMEDCT_US_2015_03_01:189991001 SNOMEDCT_US_2015_03_01:189992008 SNOMEDCT_US_2015_03_01:269509006 SNOMEDCT_US_2015_03_01:309831004 SNOMEDCT_US_2015_03_01:46923007 SNOMEDCT_US_2015_03_01:52337003 SNOMEDCT_US_2015_03_01:70600005 SNOMEDCT_US_2015_03_01:74189002 UMLS_CUI:C0019829 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma Hodgkin's sarcoma ICD9CM_2006:201.2 NCI2004_11_17:C5012 stage I Subdiaphragmatic Hodgkin Lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. url:v HL NCI2004_11_17:C9357 NCI2004_11_17:C5010 stage II Subdiaphragmatic Hodgkin Lymphoma Hodgkin disease MTH:NOCODE infectious mononucleosis A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. DOID:8568 Filatov's disease Gammaherpesviral mononucleosis (disorder) ICD10CM:B27 ICD10CM:B27.0 ICD10CM:B27.9 ICD9CM:075 MSH:D007244 Monocytic angina NCI:C34726 Pfeiffer's disease Pfeiffer's disease (disorder) SNOMEDCT_US_2015_03_01:154359004 SNOMEDCT_US_2015_03_01:186667007 SNOMEDCT_US_2015_03_01:186668002 SNOMEDCT_US_2015_03_01:186670006 SNOMEDCT_US_2015_03_01:187460007 SNOMEDCT_US_2015_03_01:26851006 SNOMEDCT_US_2015_03_01:271558008 SNOMEDCT_US_2015_03_01:314131007 UMLS_CUI:C0021345 disease_ontology glandular fever mononucleosis CSP2005:0427-6541 mononucleosis Pfeiffer's disease SNOMEDCT_2005_07_31:186670006 Pfeiffer's disease (disorder) SNOMEDCT_2005_07_31:314131007 Gammaherpesviral mononucleosis (disorder) SNOMEDCT_2005_07_31:186668002 A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. url:http://en.wikipedia.org/wiki/Infectious_mononucleosis url:http://www.cdc.gov/ncidod/diseases/ebv.htm MTHICD9_2006:075 Monocytic angina multiple carboxylase deficiency An amino acid metabolic disorder that involves failures of carboxylation enzymes. DOID:857 ICD10CM:D81.81 ICD10CM:D81.819 MSH:D009100 UMLS_CUI:C0026755 disease_ontology An amino acid metabolic disorder that involves failures of carboxylation enzymes. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148 lichen nitidus DOID:8573 ICD10CM:L44.1 ICD9CM:697.1 Lichen nitidus (disorder) MSH:D017513 Pinkus' disease SNOMEDCT_US_2015_03_01:25147002 SNOMEDCT_US_2015_03_01:41890004 UMLS_CUI:C0162849 disease_ontology Lichen nitidus (disorder) SNOMEDCT_2005_07_31:41890004 MTHICD9_2006:697.1 Pinkus' disease Pinkus' disease SNOMEDCT_2005_07_31:25147002 lichen disease DOID:8574 ICD10CM:L28.0 ICD9CM:697 ICD9CM:697.9 SNOMEDCT_US_2015_03_01:156376003 SNOMEDCT_US_2015_03_01:156379005 SNOMEDCT_US_2015_03_01:200998004 SNOMEDCT_US_2015_03_01:201010002 SNOMEDCT_US_2015_03_01:88996004 UMLS_CUI:C0023643 disease_ontology ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. DOID:8576 DOID:8577 DOID:9016 EFO:0000729 ICD10CM:K51 ICD10CM:K51.9 ICD9CM:556 ICD9CM:556.5 ICD9CM:556.9 Left-sided ulcerative colitis MSH:D003093 NCI:C2952 OMIM mapping confirmed by DO. [LS]. OMIM:266600 SNOMEDCT_US_2015_03_01:155764007 SNOMEDCT_US_2015_03_01:196985000 SNOMEDCT_US_2015_03_01:196988003 SNOMEDCT_US_2015_03_01:196996008 SNOMEDCT_US_2015_03_01:266447004 SNOMEDCT_US_2015_03_01:27701000 SNOMEDCT_US_2015_03_01:441971007 SNOMEDCT_US_2015_03_01:64766004 SNOMEDCT_US_2015_03_01:68195006 UMLS_CUI:C0009324 UMLS_CUI:C0375359 disease_ontology A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. MSH:D003093 url:http://en.wikipedia.org/wiki/Ulcerative_colitis Left-sided ulcerative colitis MTHICD9_2006:556.5 soft palate cancer DOID:8578 ICD10CM:C05.1 ICD9CM:145.3 NCI:C3529 SNOMEDCT_US_2015_03_01:363388009 SNOMEDCT_US_2015_03_01:94049001 UMLS_CUI:C0153376 disease_ontology malignant tumor of soft palate (disorder) malignant tumor of the soft Palate NCI2004_11_17:C3529 malignant tumor of the soft Palate SNOMEDCT_2005_07_31:363388009 malignant tumor of soft palate (disorder) malignant histiocytosis DOID:8579 DOID:8580 Histiocytic medullary reticulosis [obs] ICD10CM:C96.A ICD9CM:202.3 MSH:D054747 NCI:C7202 SNOMEDCT_US_2015_03_01:118612006 SNOMEDCT_US_2015_03_01:128920006 SNOMEDCT_US_2015_03_01:134179007 SNOMEDCT_US_2015_03_01:188643009 SNOMEDCT_US_2015_03_01:188690006 SNOMEDCT_US_2015_03_01:277648007 SNOMEDCT_US_2015_03_01:66855003 SNOMEDCT_US_2015_03_01:8139000 Stewart's granuloma UMLS_CUI:C0019623 disease_ontology malignant midline reticulosis malignant reticulosis SNOMEDCT_2005_07_31:66855003 malignant midline reticulosis MTHICD9_2006:202.3 malignant reticulosis Histiocytic medullary reticulosis [obs] SNOMEDCT_2005_07_31:128920006 SNOMEDCT_2005_07_31:277648007 Stewart's granuloma Burkitt's tumor or lymphoma involving intrathoracic lymph nodes Burkitt's lymphoma of intrathoracic lymph nodes (disorder) DOID:8583 disease_ontology true Burkitt's lymphoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188511002 Burkitt lymphoma A mature B-cell neoplasm of B-cells found in the germinal center. Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma DOID:8584 ICD10CM:C83.7 ICD10CM:C83.70 ICD9CM:200.2 MSH:D002051 NCI:C2912 NCI:C7400 OMIM mapping confirmed by DO. [SN]. OMIM:113970 SNOMEDCT_US_2015_03_01:118617000 SNOMEDCT_US_2015_03_01:154581008 SNOMEDCT_US_2015_03_01:188509006 SNOMEDCT_US_2015_03_01:188518008 SNOMEDCT_US_2015_03_01:190022008 SNOMEDCT_US_2015_03_01:190023003 SNOMEDCT_US_2015_03_01:22197008 SNOMEDCT_US_2015_03_01:277571004 SNOMEDCT_US_2015_03_01:397400006 SNOMEDCT_US_2015_03_01:77381001 UMLS_CUI:C0006413 disease_ontology malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type NCI2004_11_17:C2912 small Non-Cleaved cell Lymphoma, Burkitt's type MTHICD9_2006:200.2 malignant lymphoma, Burkitt's type A mature B-cell neoplasm of B-cells found in the germinal center. url:http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45203 Burkitt lymphoma/leukaemia SNOMEDCT_2005_07_31:397400006 Burkitt's Lymphoma MTH:NOCODE Burkitt's tumor CSP2005:2004-6947 dysplasia of cervix Cervix Dysplasia DOID:8585 DOID:8586 DOID:8796 Dysplasia of cervix (disorder) Dysplasia of cervix (uteri) Dysplasia of cervix NOS (disorder) Dysplasia of cervix uteri Dysplasia of cervix uteri (disorder) Low-grade Intraepithelial Neoplasia of Cervix Uteri Mild dysplasia of cervix Moderate dysplasia of cervix Moderate squamous Dysplasia of the Cervix cervical dysplasia cervical dysplasia NOS cervical intraepithelial neoplasia I [CIN I] cervical intraepithelial neoplasia grade 1 cervical intraepithelial neoplasia grade 1 (disorder) cervical intraepithelial neoplasia grade 2 cervical intraepithelial neoplasia grade 2 (disorder) disease_ontology true MTHICD9_2006:622.11 cervical intraepithelial neoplasia I [CIN I] Dysplasia of cervix (uteri) ICD9CM_2006:622.1 Dysplasia of cervix NOS (disorder) SNOMEDCT_2005_07_31:198345008 Dysplasia of cervix uteri SNOMEDCT_2005_07_31:198340003 MTH:NOCODE cervical dysplasia Dysplasia of cervix uteri SNOMEDCT_2005_07_31:156012002 Dysplasia of cervix uteri MTHICD9_2006:622.1 Moderate squamous Dysplasia of the Cervix NCI2004_11_17:C40198 Cervix Dysplasia MTH:167 MTHICD9_2006:622.10 cervical dysplasia NOS SNOMEDCT_2005_07_31:285836003 cervical intraepithelial neoplasia grade 1 (disorder) Low-grade Intraepithelial Neoplasia of Cervix Uteri NCI2004_11_17:C4630 MTH:NOCODE SNOMEDCT_2005_07_31:198343001 cervical intraepithelial neoplasia grade 2 SNOMEDCT_2005_07_31:285838002 cervical intraepithelial neoplasia grade 2 (disorder) Dysplasia of cervix (disorder) SNOMEDCT_2005_07_31:73391008 Dysplasia of cervix uteri (disorder) SNOMEDCT_2005_07_31:270495002 MTH:NOCODE SNOMEDCT_2005_07_31:198342006 cervical intraepithelial neoplasia grade 1 Burkitt's tumor or lymphoma extranodal and solid organ sites DOID:8587 disease_ontology true holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) DOID:859 ICD10CM:D81.818 MSH:D028922 Multiple carboxylase deficiency - neonatal onset (disorder) NCI:C98842 NCI:C99247 OMIM mapping confirmed by DO. [SN]. OMIM:253270 SNOMEDCT_US_2015_03_01:15307001 SNOMEDCT_US_2015_03_01:237956003 SNOMEDCT_US_2015_03_01:360367001 SNOMEDCT_US_2015_03_01:360369003 UMLS_CUI:C0268581 disease_ontology Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) SNOMEDCT_2005_07_31:15307001 Multiple carboxylase deficiency - neonatal onset (disorder) SNOMEDCT_2005_07_31:360367001 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency acute vascular insufficiency of intestine DOID:8590 ICD9CM:557.0 NCI:C34356 SNOMEDCT_US_2015_03_01:196998009 SNOMEDCT_US_2015_03_01:197004007 SNOMEDCT_US_2015_03_01:91489000 UMLS_CUI:C0001363 acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. (disorder) acute intestinal Ischemia acute intestinal vascular insufficiency disease_ontology SNOMEDCT_2005_07_31:266519001 acute gastrointestinal tract vascular insuffic. (disorder) NCI2004_11_17:C34356 acute intestinal Ischemia SNOMEDCT_2005_07_31:196998009 acute intestinal vascular insufficiency SNOMEDCT_2005_07_31:155766009 acute GIT vascular insuffic. reticulosarcoma involving lymph nodes of inguinal region and lower limb DOID:8592 Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology true Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:95229009 Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188493000 chronic monocytic leukemia DOID:8593 DOID:9194 ICD10CM:C93.1 ICD9CM:206.1 MSH:D007951 NCI:C34774 SNOMEDCT_US_2015_03_01:154595006 SNOMEDCT_US_2015_03_01:188745007 SNOMEDCT_US_2015_03_01:190060004 SNOMEDCT_US_2015_03_01:37810007 SNOMEDCT_US_2015_03_01:46236001 SNOMEDCT_US_2015_03_01:92816008 UMLS_CUI:C0023466 disease_ontology scarlet fever An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. DOID:8596 DOID:8597 ICD10CM:A38 ICD10CM:A38.9 ICD9CM:034 ICD9CM:034.1 MSH:D012541 NCI:C94575 SNOMEDCT_US_2015_03_01:154301006 SNOMEDCT_US_2015_03_01:154303009 SNOMEDCT_US_2015_03_01:154304003 SNOMEDCT_US_2015_03_01:186357007 SNOMEDCT_US_2015_03_01:186362008 SNOMEDCT_US_2015_03_01:30242009 Scarlatina UMLS_CUI:C0036285 UMLS_CUI:C0343487 disease_ontology An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever MTHICD9_2006:034.1 Scarlatina mild degree recurrent episode manic disorder DOID:8598 disease_ontology true Sezary's disease involving lymph nodes of inguinal region and lower limb DOID:8599 Sezary's disease of lymph nodes of inguinal region and lower limb (disorder) Szary's disease of lymph nodes of inguinal region and/or lower limb disease_ontology true SNOMEDCT_2005_07_31:188634000 Sezary's disease of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:95261008 Szary's disease of lymph nodes of inguinal region and/or lower limb carcinoid syndrome DOID:8600 Excessive serotonin secretion Hormonal tumour Hormone secretion by carcinoid tumors disease_ontology true Hormonal tumour SNOMEDCT_2005_07_31:109950000 Hormone secretion by carcinoid tumors MTHICD9_2006:259.2 Excessive serotonin secretion SNOMEDCT_2005_07_31:190580007 upper gum cancer DOID:8601 ICD10CM:C03.0 ICD9CM:143.0 SNOMEDCT_US_2015_03_01:363383000 SNOMEDCT_US_2015_03_01:94114005 UMLS_CUI:C0153365 disease_ontology malignant tumor of upper gingiva malignant tumor of upper gingiva (disorder) malignant tumour of upper gum MTH:U001011 malignant tumor of upper gingiva SNOMEDCT_2005_07_31:94114005 malignant tumour of upper gum SNOMEDCT_2005_07_31:363383000 malignant tumor of upper gingiva (disorder) gum cancer DOID:8602 DOID:8734 ICD10CM:C03 ICD10CM:C03.9 ICD9CM:143 ICD9CM:143.9 NCI:C9317 SNOMEDCT_US_2015_03_01:187651005 SNOMEDCT_US_2015_03_01:363382005 SNOMEDCT_US_2015_03_01:93819009 UMLS_CUI:C0153364 disease_ontology malignant Gingival tumor malignant neoplasm of gum malignant neoplasm of gum NOS (disorder) malignant neoplasm of other sites of gum malignant neoplasm of other sites of gum (disorder) malignant tumor of gum (disorder) malignant tumour of gingiva ICD9CM_2006:143 malignant neoplasm of gum SNOMEDCT_2005_07_31:93819009 malignant tumour of gingiva SNOMEDCT_2005_07_31:187650006 malignant neoplasm of other sites of gum (disorder) SNOMEDCT_2005_07_31:187651005 malignant neoplasm of gum NOS (disorder) NCI2004_11_17:C9317 malignant Gingival tumor SNOMEDCT_2005_07_31:363382005 malignant tumor of gum (disorder) Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes DOID:8604 Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93494007 Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188560007 herpetic whitlow A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. DOID:8607 Herpetic felon Herpetic whitlow (disorder) ICD9CM:054.6 SNOMEDCT_US_2015_03_01:43891009 UMLS_CUI:C0153042 disease_ontology Herpetic felon MTHICD9_2006:054.6 Herpetic whitlow (disorder) SNOMEDCT_2005_07_31:43891009 A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. url:http://en.wikipedia.org/wiki/Herpetic_whitlow moderate degree recurrent episode manic disease DOID:8609 disease_ontology true drug induced sleep disorder DOID:8611 disease_ontology true spontaneous abortion complicated by shock DOID:8615 DOID:8889 disease_ontology spontaneous abortion complicated by shock (disorder) spontaneous abortion, unspecified, complicated by shock true SNOMEDCT_2005_07_31:34270000 spontaneous abortion complicated by shock (disorder) Peyronie's disease DOID:8616 ICD10CM:N48.6 ICD9CM:607.85 Induratio penis plastica Induratio penis plastica (disorder) MSH:D010411 NCI:C3316 OMIM mapping confirmed by DO. [SN]. OMIM:171000 Peyronie disease Peyronie's Fibromatosis SNOMEDCT_US_2015_03_01:1335005 SNOMEDCT_US_2015_03_01:155931002 SNOMEDCT_US_2015_03_01:198028006 UMLS_CUI:C0030848 disease_ontology NCI2004_11_17:C3316 Peyronie's Fibromatosis Induratio penis plastica MTHICD9_2006:607.81 MTH:NOCODE Peyronie disease Induratio penis plastica (disorder) SNOMEDCT_2005_07_31:1335005 oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity. DOID:0050627 DOID:8617 DOID:8618 DOID:9049 DOID:9055 ICD10CM:C04 ICD10CM:C04.0 ICD10CM:C04.1 ICD10CM:C04.9 ICD9CM:144 ICD9CM:144.0 ICD9CM:144.1 ICD9CM:144.9 NCI:C9318 SNOMEDCT_US_2015_03_01:187652003 SNOMEDCT_US_2015_03_01:187653008 SNOMEDCT_US_2015_03_01:187656000 SNOMEDCT_US_2015_03_01:363385007 SNOMEDCT_US_2015_03_01:93672006 SNOMEDCT_US_2015_03_01:93802007 SNOMEDCT_US_2015_03_01:93860002 UMLS_CUI:C0153368 UMLS_CUI:C0153369 UMLS_CUI:C0496758 disease_ontology malignant neoplasm of anterior portion of floor of mouth malignant neoplasm of floor of mouth malignant neoplasm of lateral floor of mouth malignant neoplasm of lateral portion of floor of mouth malignant tumor of anterior floor of mouth (disorder) malignant tumor of lateral floor of mouth (disorder) malignant tumor of the Floor of the Mouth SNOMEDCT_2005_07_31:187653008 malignant tumor of lateral floor of mouth (disorder) MTH:U001372 malignant neoplasm of lateral floor of mouth A gastrointestinal system cancer that is located_in the oral cavity. url:http://en.wikipedia.org/wiki/Oral_cancer NCI2004_11_17:C9318 malignant tumor of the Floor of the Mouth SNOMEDCT_2005_07_31:187652003 malignant tumor of anterior floor of mouth (disorder) MTH:NOCODE malignant neoplasm of floor of mouth recurrent hypersomnia A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. DOID:8619 ICD10CM:G47.13 ICD9CM:327.13 MSH:D006970 SNOMEDCT_US_2015_03_01:426451004 UMLS_CUI:C0751226 disease_ontology primary recurrent hypersomnia A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. url:http://en.wikipedia.org/wiki/Hypersomnia diplegia of upper limb DOID:862 Diplegia of upper limbs (disorder) Diplegia, upper ICD10CM:G83.0 ICD9CM:344.2 SNOMEDCT_US_2015_03_01:192968004 SNOMEDCT_US_2015_03_01:54099005 UMLS_CUI:C0154701 disease_ontology Diplegia, upper MTHICD9_2006:344.2 Diplegia of upper limbs (disorder) SNOMEDCT_2005_07_31:54099005 reticulosarcoma involving intrapelvic lymph nodes DOID:8620 Reticulosarcoma of intrapelvic lymph nodes Reticulosarcoma of intrapelvic lymph nodes (disorder) disease_ontology true Reticulosarcoma of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188494006 Reticulosarcoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:95225003 measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. DOID:8621 DOID:8622 DOID:8963 DOID:9112 ICD10CM:B05 ICD10CM:B05.9 ICD9CM:055 MSH:D008457 NCI:C96406 SNOMEDCT_US_2015_03_01:14189004 SNOMEDCT_US_2015_03_01:154338006 UMLS_CUI:C0025007 disease_ontology morbilli CSP2005:3100-0554 morbilli A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. url:http://en.wikipedia.org/wiki/Measles adhesions and disruptions of pupillary membranes DOID:8623 disease_ontology true postherpetic trigeminal neuralgia A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. DOID:8625 Post-herpetic trigeminal neuralgia Post-herpetic trigeminal neuralgia (disorder) disease_ontology true Post-herpetic trigeminal neuralgia (disorder) SNOMEDCT_2005_07_31:17974002 Post-herpetic trigeminal neuralgia SNOMEDCT_2005_07_31:186519008 A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. url:http://www.jmedicalcasereports.com/content/3/1/7813 url:http://www.merckmanuals.com/home/sec06/ch096/ch096e.html Sezary's disease involving spleen DOID:8626 Sezary's disease of spleen (disorder) Szary's disease of spleen (disorder) disease_ontology true SNOMEDCT_2005_07_31:95263006 Szary's disease of spleen (disorder) SNOMEDCT_2005_07_31:188636003 Sezary's disease of spleen (disorder) Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb DOID:8627 Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb disease_ontology true Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93489007 Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188590000 Hodgkin's lymphoma, lymphocytic depletion DOID:8628 DOID:9047 Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's disease, lymphocytic depletion (disorder) Hodgkin's disease, lymphocytic depletion NOS Hodgkin's disease, lymphocytic depletion NOS (disorder) Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality) Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites Hodgkin's lymphocytic depletion of unspecified site (disorder) ICD10CM:C81.3 ICD9CM:201.7 Lymphocyte-Depleted Classical Hodgkin Lymphoma MSH:D006689 NCI:C9283 SNOMEDCT_US_2015_03_01:112687003 SNOMEDCT_US_2015_03_01:118610003 SNOMEDCT_US_2015_03_01:134177009 SNOMEDCT_US_2015_03_01:188584004 SNOMEDCT_US_2015_03_01:188594009 UMLS_CUI:C0152267 disease_ontology Hodgkin's disease, lymphocytic depletion NOS MTHICD9_2006:201.7 Hodgkin's disease, lymphocytic depletion NOS (disorder) SNOMEDCT_2005_07_31:188594009 Hodgkin's disease, lymphocytic depletion (disorder) SNOMEDCT_2005_07_31:118610003 Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality) SNOMEDCT_2005_07_31:134177009 Lymphocyte-Depleted Classical Hodgkin Lymphoma NCI2004_11_17:C9283 Hodgkin's lymphocytic depletion of unspecified site (disorder) SNOMEDCT_2005_07_31:188584004 Hodgkin lymphoma, lymphocyte depletion SNOMEDCT_2005_07_31:112687003 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. DOID:863 ICD10CM:G00-G99 ICD10CM:G98 ICD10CM:G98.8 ICD9CM:349.9 MSH:D009422 NCI:C26835 SNOMEDCT_US_2015_03_01:118940003 SNOMEDCT_US_2015_03_01:154981003 SNOMEDCT_US_2015_03_01:155262005 SNOMEDCT_US_2015_03_01:192641002 SNOMEDCT_US_2015_03_01:267679005 SNOMEDCT_US_2015_03_01:286946008 UMLS_CUI:C0027765 disease_ontology A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system upper lip cancer DOID:8630 DOID:8984 ICD10CM:C00.0 ICD10CM:C00.3 ICD9CM:140.0 ICD9CM:140.3 SNOMEDCT_US_2015_03_01:187600004 SNOMEDCT_US_2015_03_01:187601000 SNOMEDCT_US_2015_03_01:187602007 SNOMEDCT_US_2015_03_01:187606005 SNOMEDCT_US_2015_03_01:187607001 SNOMEDCT_US_2015_03_01:187609003 SNOMEDCT_US_2015_03_01:187610008 SNOMEDCT_US_2015_03_01:187611007 SNOMEDCT_US_2015_03_01:363372009 SNOMEDCT_US_2015_03_01:93837005 SNOMEDCT_US_2015_03_01:94137004 UMLS_CUI:C0432579 UMLS_CUI:C0474962 disease_ontology Kaposi's sarcoma A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). African lymphadenopathic Kaposi's sarcoma Conjunctival Kaposi's sarcoma Corneal Kaposi's sarcoma Cutaneous Kaposi's sarcoma DOID:12761 DOID:12762 DOID:12764 DOID:12766 DOID:12767 DOID:12768 DOID:12770 DOID:12771 DOID:12772 DOID:12774 DOID:12775 DOID:12776 DOID:12777 DOID:12778 DOID:6480 DOID:7239 DOID:8631 DOID:8632 ICD10CM:C46 ICD10CM:C46.0 ICD10CM:C46.1 ICD10CM:C46.2 ICD10CM:C46.3 ICD10CM:C46.4 ICD10CM:C46.5 ICD10CM:C46.9 ICD9CM:176 ICD9CM:176.0 ICD9CM:176.1 ICD9CM:176.2 ICD9CM:176.3 ICD9CM:176.4 ICD9CM:176.5 ICD9CM:176.9 Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva (disorder) Kaposi's sarcoma of cornea (disorder) Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung (disorder) Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of lymph nodes (disorder) Kaposi's sarcoma of palate (disorder) Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of skin (disorder) Kaposi's sarcoma of soft tissue (disorder) Kaposi's sarcoma of soft tissues (disorder) Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin Kaposi's sarcoma-associated herpesvirus (KSHV) MSH:D012514 NCI:C27500 NCI:C3550 NCI:C3551 NCI:C4578 NCI:C4579 NCI:C5363 NCI:C5523 NCI:C5529 NCI:C5602 NCI:C5706 NCI:C5842 NCI:C6377 NCI:C6749 NCI:C7006 NCI:C9087 OMIM mapping confirmed by DO. [SN]. OMIM:148000 Palate Kaposi's sarcoma SNOMEDCT_US_2015_03_01:109385007 SNOMEDCT_US_2015_03_01:109386008 SNOMEDCT_US_2015_03_01:109387004 SNOMEDCT_US_2015_03_01:109388009 SNOMEDCT_US_2015_03_01:109390005 SNOMEDCT_US_2015_03_01:109391009 SNOMEDCT_US_2015_03_01:154604006 SNOMEDCT_US_2015_03_01:188029000 SNOMEDCT_US_2015_03_01:188144002 SNOMEDCT_US_2015_03_01:188483007 SNOMEDCT_US_2015_03_01:188775002 SNOMEDCT_US_2015_03_01:190112000 SNOMEDCT_US_2015_03_01:255114007 SNOMEDCT_US_2015_03_01:255115008 SNOMEDCT_US_2015_03_01:49937004 UMLS_CUI:C0036220 UMLS_CUI:C0153560 UMLS_CUI:C0153561 UMLS_CUI:C0153562 UMLS_CUI:C0153563 UMLS_CUI:C0153564 UMLS_CUI:C0153565 UMLS_CUI:C0346935 UMLS_CUI:C0346936 UMLS_CUI:C1332265 UMLS_CUI:C1332847 UMLS_CUI:C1333453 UMLS_CUI:C1333744 UMLS_CUI:C1333776 UMLS_CUI:C1334318 UMLS_CUI:C1334457 UMLS_CUI:C1335372 UMLS_CUI:C1335509 anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma disease_ontology esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma Kaposi's sarcoma of the prostate NCI2004_11_17:C5523 Kaposi's sarcoma of palate (disorder) SNOMEDCT_2005_07_31:109388009 Kaposi's sarcoma of lung (disorder) SNOMEDCT_2005_07_31:109390005 Kaposi's sarcoma of anus NCI2004_11_17:C5602 Cutaneous Kaposi's sarcoma NCI2004_11_17:C3550 Kaposi's sarcoma of lymph nodes SNOMEDCT_2005_07_31:188775002 Kaposi's sarcoma of the CNS NCI2004_11_17:C7006 Kaposi's sarcoma of conjunctiva (disorder) SNOMEDCT_2005_07_31:255114007 ICD9CM_2006:176.0 Kaposi's sarcoma, skin Kaposi's sarcoma of penis NCI2004_11_17:C6377 NCI2004_11_17:C6749 Palate Kaposi's sarcoma Conjunctival Kaposi's sarcoma NCI2004_11_17:C4578 Corneal Kaposi's sarcoma NCI2004_11_17:C4579 ICD9CM_2006:176.4 Kaposi's sarcoma, lung Kaposi's sarcoma of skin SNOMEDCT_2005_07_31:188144002 Kaposi's sarcoma of cornea (disorder) SNOMEDCT_2005_07_31:255115008 A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). url:http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma Kaposi's sarcoma of skin (disorder) SNOMEDCT_2005_07_31:109386008 Kaposi's sarcoma of lymph nodes (disorder) SNOMEDCT_2005_07_31:109391009 Kaposi's sarcoma of Heart NCI2004_11_17:C5363 Kaposi's sarcoma of soft tissue (disorder) SNOMEDCT_2005_07_31:188029000 Kaposi's sarcoma of esophagus NCI2004_11_17:C5706 NCI2004_11_17:C3551 pulmonary Kaposi's sarcoma Kaposi's sarcoma of soft tissues (disorder) SNOMEDCT_2005_07_31:109387004 Kaposi's sarcoma of the gallbladder NCI2004_11_17:C5842 chronic intestinal vascular insufficiency CMI - chronic mesenteric ischaemia DOID:8633 ICD9CM:557.1 SNOMEDCT_US_2015_03_01:111354009 SNOMEDCT_US_2015_03_01:197005008 SNOMEDCT_US_2015_03_01:197008005 SNOMEDCT_US_2015_03_01:241154007 SNOMEDCT_US_2015_03_01:266448009 UMLS_CUI:C0311262 chronic mesenteric ischemia disease_ontology CMI - chronic mesenteric ischaemia SNOMEDCT_2005_07_31:241154007 MTH:NOCODE chronic mesenteric ischemia prostate carcinoma in situ DOID:8634 ICD10CM:D07.5 ICD9CM:233.4 NCI:C3642 PIN III SNOMEDCT_US_2015_03_01:128640002 SNOMEDCT_US_2015_03_01:92691004 UMLS_CUI:C0154088 carcinoma in situ of prostate (disorder) disease_ontology grade III PIN SNOMEDCT_2005_07_31:92691004 carcinoma in situ of prostate (disorder) PIN III SNOMEDCT_2005_07_31:128640002 NCI2004_11_17:C3642 grade III PIN uvula cancer DOID:8635 ICD10CM:C05.2 ICD9CM:145.4 NCI:C35177 SNOMEDCT_US_2015_03_01:363389001 SNOMEDCT_US_2015_03_01:94129007 UMLS_CUI:C0153377 disease_ontology malignant Uvular tumor malignant tumor of uvula (disorder) SNOMEDCT_2005_07_31:363389001 malignant tumor of uvula (disorder) NCI2004_11_17:C35177 malignant Uvular tumor Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes DOID:8638 Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93493001 Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188556009 alcohol withdrawal delirium Alcohol Withdrawal Delirium Alcohol withdrawal delirium (disorder) Alcoholic delirium DOID:8639 Delirium tremens Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) delirium tremens disease_ontology true Alcohol Withdrawal Delirium MTH:NOCODE Alcoholic delirium MTHICD9_2006:291.0 Delirium tremens SNOMEDCT_2005_07_31:154853008 CSP2005:0080-9468 delirium tremens Alcohol withdrawal delirium (disorder) SNOMEDCT_2005_07_31:8635005 Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) SNOMEDCT_2005_07_31:192211007 phlebitis A vein disease that is characterized by inflammation of a vein. DOID:864 ICD10CM:I80 MSH:D010689 NCI:C38003 SNOMEDCT_US_2015_03_01:195432009 SNOMEDCT_US_2015_03_01:61599003 UMLS_CUI:C0031542 disease_ontology A vein disease that is characterized by inflammation of a vein. url:http://en.wikipedia.org/wiki/Phlebitis reticulosarcoma involving lymph nodes of multiple sites DOID:8640 Reticulosarcoma of lymph nodes of multiple sites Reticulosarcoma of lymph nodes of multiple sites (disorder) disease_ontology true Reticulosarcoma of lymph nodes of multiple sites SNOMEDCT_2005_07_31:188496008 Reticulosarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:95230004 Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb DOID:8641 Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188527009 Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93541001 Hodgkin's paragranuloma DOID:8642 DOID:8951 DOID:8972 Hodgkin paragranuloma disease_ontology duodenitis DOID:8643 DOID:8897 DOID:8983 Hemorrhagic duodenitis ICD10CM:K29.8 ICD9CM:535.6 MSH:D004382 NCI:C94409 SNOMEDCT_US_2015_03_01:155715004 SNOMEDCT_US_2015_03_01:72007001 UMLS_CUI:C0013298 disease_ontology Hemorrhagic duodenitis MTH:NOCODE gastroduodenitis DOID:8571 DOID:8572 DOID:8644 DOID:8759 DOID:8776 DOID:8777 DOID:9223 ICD9CM:535.4 SNOMEDCT_US_2015_03_01:196737009 SNOMEDCT_US_2015_03_01:196742001 UMLS_CUI:C0029800 disease_ontology subacute delirium DOID:8645 ICD9CM:293.1 MSH:D003693 SNOMEDCT_US_2015_03_01:191507002 SNOMEDCT_US_2015_03_01:191513006 Subacute delirium (disorder) UMLS_CUI:C0154333 disease_ontology SNOMEDCT_2005_07_31:191507002 Subacute delirium (disorder) substance-induced psychosis DOID:8646 ICD9CM:293.89 UMLS_CUI:C0154334 disease_ontology tongue cancer DOID:8648 DOID:8649 DOID:8779 DOID:8900 DOID:8940 DOID:8999 DOID:9058 DOID:9068 DOID:9196 ICD10CM:C01 ICD10CM:C02.0 ICD10CM:C02.1 ICD10CM:C02.2 ICD10CM:C02.4 ICD10CM:C02.9 ICD9CM:141 ICD9CM:141.0 ICD9CM:141.1 ICD9CM:141.2 ICD9CM:141.3 ICD9CM:141.5 ICD9CM:141.6 ICD9CM:141.9 MSH:D014062 NCI:C3524 NCI:C9345 SNOMEDCT_US_2015_03_01:187632004 SNOMEDCT_US_2015_03_01:187633009 SNOMEDCT_US_2015_03_01:187636001 SNOMEDCT_US_2015_03_01:187637005 SNOMEDCT_US_2015_03_01:187638000 SNOMEDCT_US_2015_03_01:187642002 SNOMEDCT_US_2015_03_01:187644001 SNOMEDCT_US_2015_03_01:187646004 SNOMEDCT_US_2015_03_01:363375006 SNOMEDCT_US_2015_03_01:363376007 SNOMEDCT_US_2015_03_01:363377003 SNOMEDCT_US_2015_03_01:371974006 SNOMEDCT_US_2015_03_01:93687001 SNOMEDCT_US_2015_03_01:93773005 SNOMEDCT_US_2015_03_01:93848003 SNOMEDCT_US_2015_03_01:93868009 SNOMEDCT_US_2015_03_01:94100005 SNOMEDCT_US_2015_03_01:94101009 SNOMEDCT_US_2015_03_01:94134006 Tongue neoplasm malignant stage Unspecified UMLS_CUI:C0153349 UMLS_CUI:C0153350 UMLS_CUI:C0153351 UMLS_CUI:C0153356 UMLS_CUI:C0474963 UMLS_CUI:C0496755 UMLS_CUI:C0684333 disease_ontology malignant neoplasm of anterior 2/3 of tongue unspecified (disorder) malignant neoplasm of anterior two-thirds of tongue, part unspecified malignant neoplasm of base of tongue malignant neoplasm of border of tongue malignant neoplasm of dorsal surface of tongue malignant neoplasm of dorsal tongue NOS malignant neoplasm of dorsum of tongue NOS (disorder) malignant neoplasm of fixed part of tongue NOS malignant neoplasm of fixed part of tongue NOS (disorder) malignant neoplasm of junctional zone of tongue malignant neoplasm of lingual tonsil malignant neoplasm of mobile part of tongue NOS malignant neoplasm of other sites of tongue malignant neoplasm of other sites of tongue (disorder) malignant neoplasm of tip and lateral border of tongue malignant neoplasm of tip and/or lateral border of tongue malignant neoplasm of tongue malignant neoplasm of tongue NOS malignant neoplasm of tongue NOS (disorder) malignant neoplasm of tongue, NOS malignant neoplasm of tongue, tip and lateral border (disorder) malignant neoplasm of ventral surface of tongue malignant neoplasm of ventral tongue surface NOS (disorder) malignant tumor of Posterior Tongue malignant tumor of anterior two-thirds of tongue (disorder) malignant tumor of base of tongue (disorder) malignant tumor of lingual tonsil malignant tumor of lingual tonsil (disorder) malignant tumor of mobile part of tongue malignant tumor of tongue (disorder) MTH:NOCODE malignant neoplasm of tongue SNOMEDCT_2005_07_31:187646004 malignant neoplasm of tongue NOS (disorder) SNOMEDCT_2005_07_31:187642002 malignant neoplasm of ventral tongue surface NOS (disorder) NCI2004_11_17:C9345 Tongue neoplasm malignant stage Unspecified SNOMEDCT_2005_07_31:363375006 malignant tumor of tongue (disorder) NCI2004_11_17:C3524 malignant tumor of Posterior Tongue SNOMEDCT_2005_07_31:363377003 malignant tumor of lingual tonsil (disorder) SNOMEDCT_2005_07_31:363360003 malignant tumor of anterior two-thirds of tongue (disorder) SNOMEDCT_2005_07_31:187637005 malignant neoplasm of tongue, tip and lateral border (disorder) MTHICD9_2006:141.4 malignant neoplasm of mobile part of tongue NOS SNOMEDCT_2005_07_31:94101009 malignant neoplasm of tongue, NOS SNOMEDCT_2005_07_31:93673001 malignant tumor of mobile part of tongue SNOMEDCT_2005_07_31:363376007 malignant tumor of base of tongue (disorder) MTHICD9_2006:141.9 malignant neoplasm of tongue NOS MTHICD9_2006:141.1 malignant neoplasm of dorsal tongue NOS SNOMEDCT_2005_07_31:187643007 malignant neoplasm of anterior 2/3 of tongue unspecified (disorder) SNOMEDCT_2005_07_31:187636001 malignant neoplasm of dorsum of tongue NOS (disorder) MTHICD9_2006:141.0 malignant neoplasm of fixed part of tongue NOS ICD9CM_2006:141 malignant neoplasm of tongue SNOMEDCT_2005_07_31:187645000 malignant neoplasm of other sites of tongue (disorder) MTH:U001010 malignant tumor of lingual tonsil MTH:U001371 malignant neoplasm of border of tongue SNOMEDCT_2005_07_31:371974006 SNOMEDCT_2005_07_31:94100005 malignant neoplasm of tip and/or lateral border of tongue SNOMEDCT_2005_07_31:187632004 malignant neoplasm of fixed part of tongue NOS (disorder) vasculitis A vascular disease that is characterized by inflammation of the blood vessels. Angiitis DOID:865 MSH:D014657 NCI:C26912 SNOMEDCT_US_2015_03_01:195375002 SNOMEDCT_US_2015_03_01:266325003 SNOMEDCT_US_2015_03_01:31996006 SNOMEDCT_US_2015_03_01:393589007 UMLS_CUI:C0042384 disease_ontology A vascular disease that is characterized by inflammation of the blood vessels. url:http://en.wikipedia.org/wiki/Vasculitis url:http://www.nhlbi.nih.gov/health/health-topics/topics/vas/ url:http://www.nlm.nih.gov/medlineplus/vasculitis.html Angiitis SNOMEDCT_2005_07_31:266325003 Hodgkin's granuloma involving intrapelvic lymph nodes DOID:8650 Hodgkin's granuloma of intrapelvic lymph nodes Hodgkin's granuloma of intrapelvic lymph nodes (disorder) disease_ontology true Hodgkin's granuloma of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188539001 Hodgkin's granuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93530003 Hodgkin's granuloma DOID:8651 DOID:9102 Hodgkin granuloma Hodgkin's Granuloma Hodgkin's granuloma of unspecified site (disorder) Hodgkin's granuloma, unspecified site, extranodal and solid organ sites ICD10CM:C81 ICD10CM:C81.0 ICD10CM:C81.2 ICD10CM:C81.3 ICD10CM:C81.4 ICD10CM:C81.9 ICD9CM:201 ICD9CM:201.0 ICD9CM:201.1 ICD9CM:201.2 ICD9CM:201.4 ICD9CM:201.6 ICD9CM:201.7 ICD9CM:201.9 MSH:D006689 NCI:C26956 NCI:C3517 NCI:C6913 NCI:C6914 NCI:C7258 NCI:C7702 NCI:C9283 NCI:C9357 SNOMEDCT_US_2015_03_01:112687003 SNOMEDCT_US_2015_03_01:118599009 SNOMEDCT_US_2015_03_01:118602004 SNOMEDCT_US_2015_03_01:118605002 SNOMEDCT_US_2015_03_01:118606001 SNOMEDCT_US_2015_03_01:118607005 SNOMEDCT_US_2015_03_01:118609008 SNOMEDCT_US_2015_03_01:118610003 SNOMEDCT_US_2015_03_01:128799007 SNOMEDCT_US_2015_03_01:134177009 SNOMEDCT_US_2015_03_01:14537002 SNOMEDCT_US_2015_03_01:154582001 SNOMEDCT_US_2015_03_01:188521005 SNOMEDCT_US_2015_03_01:188522003 SNOMEDCT_US_2015_03_01:188532005 SNOMEDCT_US_2015_03_01:188533000 SNOMEDCT_US_2015_03_01:188542007 SNOMEDCT_US_2015_03_01:188543002 SNOMEDCT_US_2015_03_01:188552006 SNOMEDCT_US_2015_03_01:188553001 SNOMEDCT_US_2015_03_01:188563009 SNOMEDCT_US_2015_03_01:188574000 SNOMEDCT_US_2015_03_01:188583005 SNOMEDCT_US_2015_03_01:188584004 SNOMEDCT_US_2015_03_01:188594009 SNOMEDCT_US_2015_03_01:188595005 SNOMEDCT_US_2015_03_01:188596006 SNOMEDCT_US_2015_03_01:188605006 SNOMEDCT_US_2015_03_01:189987006 SNOMEDCT_US_2015_03_01:189988001 SNOMEDCT_US_2015_03_01:189991001 SNOMEDCT_US_2015_03_01:189992008 SNOMEDCT_US_2015_03_01:269509006 SNOMEDCT_US_2015_03_01:309831004 SNOMEDCT_US_2015_03_01:41529000 SNOMEDCT_US_2015_03_01:46923007 SNOMEDCT_US_2015_03_01:52337003 SNOMEDCT_US_2015_03_01:59668005 SNOMEDCT_US_2015_03_01:70600005 SNOMEDCT_US_2015_03_01:74189002 UMLS_CUI:C0019829 UMLS_CUI:C0152266 UMLS_CUI:C0152267 UMLS_CUI:C0220597 UMLS_CUI:C1266194 UMLS_CUI:C1334968 disease_ontology Hodgkin's granuloma of unspecified site (disorder) SNOMEDCT_2005_07_31:188533000 Hodgkin's Granuloma NCI2004_11_17:C6914 Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes DOID:8653 Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder) Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes disease_ontology true Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188576003 Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93504002 Hodgkin's lymphoma, mixed cellularity DOID:8654 Hodgkin lymphoma, mixed cellularity Hodgkin's disease, mixed cellularity Hodgkin's disease, mixed cellularity (disorder) Hodgkin's disease, mixed cellularity NOS (disorder) Hodgkin's disease, mixed cellularity of unspecified site (disorder) ICD10CM:C81.2 ICD9CM:201.6 MCHL MSH:D006689 NCI:C3517 SNOMEDCT_US_2015_03_01:118609008 SNOMEDCT_US_2015_03_01:188574000 SNOMEDCT_US_2015_03_01:188583005 SNOMEDCT_US_2015_03_01:41529000 UMLS_CUI:C0152266 disease_ontology MCHL NCI2004_11_17:C3517 Hodgkin's disease, mixed cellularity of unspecified site (disorder) SNOMEDCT_2005_07_31:188574000 Hodgkin's disease, mixed cellularity NOS (disorder) SNOMEDCT_2005_07_31:188583005 Hodgkin lymphoma, mixed cellularity SNOMEDCT_2005_07_31:41529000 Hodgkin's disease, mixed cellularity (disorder) SNOMEDCT_2005_07_31:118609008 Sezary's disease involving lymph nodes of multiple sites DOID:8656 disease_ontology true chickenpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. DOID:8658 DOID:8659 DOID:8693 DOID:9243 ICD10CM:B01 ICD10CM:B01.9 ICD9CM:052 MSH:D002644 NCI:C97132 SNOMEDCT_US_2015_03_01:154325003 SNOMEDCT_US_2015_03_01:186508005 SNOMEDCT_US_2015_03_01:38907003 UMLS_CUI:C0008049 disease_ontology varicella CSP2005:3099-9437 varicella A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. url:http://www.nlm.nih.gov/medlineplus/chickenpox.html vein disease A vascular disease that is located_in a vein. DOID:866 ICD10CM:I82 ICD9CM:453 SNOMEDCT_US_2015_03_01:195435006 UMLS_CUI:C0155774 disease_ontology A vascular disease that is located_in a vein. url:http://en.wikipedia.org/wiki/Vein#Venous_diseases postcricoid region cancer DOID:8660 ICD10CM:C13.0 ICD9CM:148.0 NCI:C9323 SNOMEDCT_US_2015_03_01:363400004 SNOMEDCT_US_2015_03_01:93967000 UMLS_CUI:C0496769 disease_ontology malignant Postcricoid tumor malignant tumor of pharyngoesophageal junction SNOMEDCT_2005_07_31:363400004 malignant tumor of pharyngoesophageal junction NCI2004_11_17:C9323 malignant Postcricoid tumor lip carcinoma in situ DOID:8661 ICD10CM:D00.0 ICD9CM:230.0 SNOMEDCT_US_2015_03_01:189210009 SNOMEDCT_US_2015_03_01:189213006 SNOMEDCT_US_2015_03_01:271325000 UMLS_CUI:C0154058 disease_ontology carcinoma in situ of digestive organ A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. DOID:8662 DOID:9018 carcinoma in situ of digestive organ carcinoma in situ of digestive organ (disorder) carcinoma in situ of digestive organ NOS carcinoma in situ of digestive organ, unspecified (disorder) carcinoma in situ of digestive organs carcinoma in situ of digestive organs NOS (disorder) carcinoma in situ of other and unspecified digestive organs (disorder) disease_ontology true SNOMEDCT_2005_07_31:189248004 carcinoma in situ of other and unspecified digestive organs (disorder) SNOMEDCT_2005_07_31:109850001 carcinoma in situ of digestive organ (disorder) MTH:U000743 carcinoma in situ of digestive organ MTHICD9_2006:230.9 carcinoma in situ of digestive organ NOS A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ SNOMEDCT_2005_07_31:189250007 carcinoma in situ of digestive organs NOS (disorder) SNOMEDCT_2005_07_31:190174009 carcinoma in situ of digestive organ, unspecified (disorder) aryepiglottic fold cancer DOID:8663 ICD10CM:C13.1 ICD9CM:148.2 SNOMEDCT_US_2015_03_01:187708004 SNOMEDCT_US_2015_03_01:93829002 UMLS_CUI:C0153401 disease_ontology malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder) SNOMEDCT_2005_07_31:187708004 malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder) SNOMEDCT_2005_07_31:93829002 malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold nodular lymphoma involving intrapelvic lymph nodes DOID:8664 disease_ontology nodular lymphoma of intrapelvic lymph nodes nodular lymphoma of intrapelvic lymph nodes (disorder) true SNOMEDCT_2005_07_31:95187002 nodular lymphoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188614001 nodular lymphoma of intrapelvic lymph nodes Hodgkin's sarcoma involving intra-abdominal lymph nodes DOID:8667 Hodgkin's sarcoma of intra-abdominal lymph nodes Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) disease_ontology true Hodgkin's sarcoma of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188546005 Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93547002 maxillary sinus cholesteatoma A cholesteatoma located_in paranasal sinus. DOID:867 NCI:C35868 UMLS_CUI:C1334644 disease_ontology A cholesteatoma located_in paranasal sinus. PMID:1503726 eating disorder A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. DOID:8670 ICD10CM:F50 ICD10CM:F50.9 ICD9CM:307.50 MSH:D001068 NCI:C89332 SNOMEDCT_US_2015_03_01:192444003 SNOMEDCT_US_2015_03_01:192452000 SNOMEDCT_US_2015_03_01:72366004 UMLS_CUI:C0013473 disease_ontology A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. url:http://en.wikipedia.org/wiki/Eating_disorder viral exanthem DOID:8672 DOID:8730 DOID:8744 DOID:9213 ICD9CM:057.8 SNOMEDCT_US_2015_03_01:186577001 SNOMEDCT_US_2015_03_01:186583003 SNOMEDCT_US_2015_03_01:186585005 UMLS_CUI:C0029841 disease_ontology lymphosarcoma involving intrapelvic lymph nodes DOID:8674 disease_ontology true lymphosarcoma DOID:8675 DOID:8967 Diffuse lymphoma ICD10CM:C85.9 ICD9CM:200.0 ICD9CM:200.1 ICD9CM:200.7 MSH:D008228 NCI:C26919 NCI:C27824 NCI:C3210 NCI:C3211 NCI:C3458 NCI:C3459 NCI:C3462 NCI:C3463 SNOMEDCT_US_2015_03_01:109964000 SNOMEDCT_US_2015_03_01:118601006 SNOMEDCT_US_2015_03_01:118604003 SNOMEDCT_US_2015_03_01:128929007 SNOMEDCT_US_2015_03_01:134176000 SNOMEDCT_US_2015_03_01:154579006 SNOMEDCT_US_2015_03_01:154580009 SNOMEDCT_US_2015_03_01:154583006 SNOMEDCT_US_2015_03_01:188488003 SNOMEDCT_US_2015_03_01:188497004 SNOMEDCT_US_2015_03_01:188498009 SNOMEDCT_US_2015_03_01:188508003 SNOMEDCT_US_2015_03_01:188675007 SNOMEDCT_US_2015_03_01:188676008 SNOMEDCT_US_2015_03_01:189964003 SNOMEDCT_US_2015_03_01:189965002 SNOMEDCT_US_2015_03_01:189982000 SNOMEDCT_US_2015_03_01:189983005 SNOMEDCT_US_2015_03_01:189986002 SNOMEDCT_US_2015_03_01:190012002 SNOMEDCT_US_2015_03_01:190168009 SNOMEDCT_US_2015_03_01:1929004 SNOMEDCT_US_2015_03_01:269628007 SNOMEDCT_US_2015_03_01:271385002 SNOMEDCT_US_2015_03_01:373168002 SNOMEDCT_US_2015_03_01:40152000 SNOMEDCT_US_2015_03_01:63086004 SNOMEDCT_US_2015_03_01:67824002 UMLS_CUI:C0024302 UMLS_CUI:C0024304 UMLS_CUI:C0024305 UMLS_CUI:C0024306 UMLS_CUI:C0079740 UMLS_CUI:C0079741 UMLS_CUI:C0079747 UMLS_CUI:C0079757 UMLS_CUI:C0079770 UMLS_CUI:C3714542 disease_ontology malignant lymphoma (category) Diffuse lymphoma MTHICD9_2006:202.8 SNOMEDCT_2005_07_31:115244002 malignant lymphoma (category) malignant histiocytosis involving lymph nodes of multiple sites DOID:8676 disease_ontology malignant histiocytosis of lymph nodes of multiple sites (disorder) true SNOMEDCT_2005_07_31:93188005 malignant histiocytosis of lymph nodes of multiple sites (disorder) perinatal necrotizing enterocolitis DOID:8677 ENTEROCOLITIS NECROTIZING MSH:D020345 NCI:C84915 Necrotizing enterocolitis in fetus OR newborn (disorder) Perinatal necrotising enterocolitis Perinatal necrotizing enterocolitis (disorder) Pseudomembranous enterocolitis in newborn SNOMEDCT_US_2015_03_01:2707005 SNOMEDCT_US_2015_03_01:397729009 SNOMEDCT_US_2015_03_01:51180003 UMLS_CUI:C0520459 disease_ontology necrotizing enterocolitis ENTEROCOLITIS NECROTIZING MTH:NOCODE Perinatal necrotizing enterocolitis (disorder) SNOMEDCT_2005_07_31:397729009 Perinatal necrotising enterocolitis SNOMEDCT_2005_07_31:51180003 Necrotizing enterocolitis in fetus OR newborn (disorder) SNOMEDCT_2005_07_31:2707005 CSP2005:5005-0017 necrotizing enterocolitis MTHICD9_2006:777.5 Pseudomembranous enterocolitis in newborn alcoholic gastritis Alcoholic Gastritis Alcoholic gastritis (disorder) Alcoholic gastritis, with hemorrhage Alcoholic gastritis, without mention of hemorrhage DOID:8680 DOID:8957 DOID:9154 ICD10CM:K29.2 ICD9CM:535.3 NCI:C26977 SNOMEDCT_US_2015_03_01:155714000 SNOMEDCT_US_2015_03_01:2043009 UMLS_CUI:C0156076 disease_ontology Alcoholic gastritis (disorder) SNOMEDCT_2005_07_31:2043009 Alcoholic Gastritis NCI2004_11_17:C26977 paraneoplastic polyneuropathy DOID:8681 ICD9CM:357.3 MSH:D020364 NCI:C3981 Paraneoplastic Polyneuropathy Paraneoplastic neuropathy (disorder) SNOMEDCT_US_2015_03_01:21361000119109 SNOMEDCT_US_2015_03_01:77659000 UMLS_CUI:C0270932 disease_ontology polyneuropathy in malignant disease NCI2004_11_17:C3981 Paraneoplastic Polyneuropathy Paraneoplastic neuropathy (disorder) SNOMEDCT_2005_07_31:77659000 myeloid sarcoma Chloroma Chloroma (disorder) Chloroma (in Remission) DOID:8682 DOID:8683 DOID:8848 Extramedullary Myeloid tumor Granulocytic sarcoma Granulocytic sarcoma (disorder) ICD10CM:C92.3 ICD10CM:C92.30 ICD9CM:205.3 MSH:D023981 Myeloid sarcoma NOS (disorder) Myeloid sarcoma in remission Myeloid sarcoma in remission (disorder) Myeloid sarcoma without mention of remission Myeloid sarcoma, disease (disorder) Myeloid sarcoma, morphology (morphologic abnormality) NCI:C3520 NCI:C35815 SNOMEDCT_US_2015_03_01:188737002 SNOMEDCT_US_2015_03_01:188738007 SNOMEDCT_US_2015_03_01:188739004 SNOMEDCT_US_2015_03_01:35287006 SNOMEDCT_US_2015_03_01:94719007 UMLS_CUI:C0152276 disease_ontology Granulocytic sarcoma (disorder) SNOMEDCT_2005_07_31:188738007 Myeloid sarcoma, morphology (morphologic abnormality) SNOMEDCT_2005_07_31:35287006 Granulocytic sarcoma MTH:NOCODE Chloroma (in Remission) NCI2004_11_17:C8613 Myeloid sarcoma, disease (disorder) SNOMEDCT_2005_07_31:94719007 Extramedullary Myeloid tumor NCI2004_11_17:C3520 Myeloid sarcoma NOS (disorder) SNOMEDCT_2005_07_31:188739004 Myeloid sarcoma in remission (disorder) SNOMEDCT_2005_07_31:94718004 Chloroma MTHICD9_2006:205.3 Chloroma (disorder) SNOMEDCT_2005_07_31:188737002 Granulocytic sarcoma NCI2004_11_17:C35815 skin carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. Cutaneous carcinoma in situ DOID:8686 DOID:8687 DOID:8699 DOID:8817 DOID:8831 DOID:8880 DOID:8989 DOID:9000 DOID:9185 DOID:9221 ICD10CM:D04 ICD10CM:D04.0 ICD10CM:D04.2 ICD10CM:D04.3 ICD10CM:D04.4 ICD10CM:D04.6 ICD10CM:D04.7 ICD10CM:D04.9 ICD9CM:232 ICD9CM:232.0 ICD9CM:232.2 ICD9CM:232.3 ICD9CM:232.4 ICD9CM:232.5 ICD9CM:232.6 ICD9CM:232.7 ICD9CM:232.9 NCI:C3640 SNOMEDCT_US_2015_03_01:189276007 SNOMEDCT_US_2015_03_01:189278008 SNOMEDCT_US_2015_03_01:189282005 SNOMEDCT_US_2015_03_01:189290005 SNOMEDCT_US_2015_03_01:189291009 SNOMEDCT_US_2015_03_01:189294001 SNOMEDCT_US_2015_03_01:189295000 SNOMEDCT_US_2015_03_01:189334002 SNOMEDCT_US_2015_03_01:190179004 SNOMEDCT_US_2015_03_01:190181002 SNOMEDCT_US_2015_03_01:255144005 SNOMEDCT_US_2015_03_01:92734000 SNOMEDCT_US_2015_03_01:92735004 SNOMEDCT_US_2015_03_01:92747005 SNOMEDCT_US_2015_03_01:92749008 UMLS_CUI:C0154073 UMLS_CUI:C0154074 UMLS_CUI:C0154077 UMLS_CUI:C0154078 UMLS_CUI:C0154079 UMLS_CUI:C0154080 UMLS_CUI:C0154081 UMLS_CUI:C0347139 carcinoma in situ of ear carcinoma in situ of eyelid including canthus carcinoma in situ of scalp and skin of neck carcinoma in situ of scalp and skin of neck (disorder) carcinoma in situ of skin carcinoma in situ of skin of ear and external auditory canal carcinoma in situ of skin of ear and external auricular canal carcinoma in situ of skin of face carcinoma in situ of skin of lip carcinoma in situ of skin of lower limb including hip carcinoma in situ of skin of trunk except scrotum carcinoma in situ of skin of trunk, excluding scrotum (disorder) carcinoma in situ of skin of upper limb including shoulder disease_ontology A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ MTH:U000749 carcinoma in situ of skin of ear and external auricular canal SNOMEDCT_2005_07_31:189295000 carcinoma in situ of skin of trunk, excluding scrotum (disorder) ICD9CM_2006:232 carcinoma in situ of skin SNOMEDCT_2005_07_31:189291009 carcinoma in situ of scalp and skin of neck (disorder) SNOMEDCT_2005_07_31:189278008 carcinoma in situ of ear Cutaneous carcinoma in situ NCI2004_11_17:C3640 tonsillar pillar cancer DOID:8688 ICD10CM:C09.1 ICD9CM:146.2 SNOMEDCT_US_2015_03_01:187675005 SNOMEDCT_US_2015_03_01:187676006 SNOMEDCT_US_2015_03_01:187679004 SNOMEDCT_US_2015_03_01:94103007 UMLS_CUI:C0153385 disease_ontology malignant neoplasm of tonsillar pillar malignant neoplasm of tonsillar pillars, posterior malignant tumor of tonsillar pillar (disorder) malignant tumour of tonsillar pillar SNOMEDCT_2005_07_31:187679004 malignant tumour of tonsillar pillar SNOMEDCT_2005_07_31:187676006 malignant tumour of tonsillar pillar SNOMEDCT_2005_07_31:94103007 malignant neoplasm of tonsillar pillar MTHICD9_2006:146.2 malignant neoplasm of tonsillar pillars, posterior SNOMEDCT_2005_07_31:187675005 malignant tumor of tonsillar pillar (disorder) anorexia nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. DOID:8689 ICD10CM:F50.0 ICD10CM:F50.00 ICD9CM:307.1 MSH:D000856 NCI:C34387 SNOMEDCT_US_2015_03_01:154926005 SNOMEDCT_US_2015_03_01:192445002 SNOMEDCT_US_2015_03_01:56882008 UMLS_CUI:C0003125 disease_ontology An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. url:http://en.wikipedia.org/wiki/Anorexia_nervosa cholesteatoma A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. DOID:869 ICD10CM:H71.9 ICD10CM:H71.90 ICD9CM:385.30 MSH:D002781 NCI:C2944 SNOMEDCT_US_2015_03_01:155244001 SNOMEDCT_US_2015_03_01:194338004 SNOMEDCT_US_2015_03_01:267766007 SNOMEDCT_US_2015_03_01:363668000 SNOMEDCT_US_2015_03_01:575006 UMLS_CUI:C0008373 disease_ontology A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. PMID:26223725 url:https://en.wikipedia.org/wiki/Cholesteatoma Mycosis fungoides involving lymph nodes of head, face, and neck DOID:8690 Mycosis fungoides involving lymph nodes of head, face and neck Mycosis fungoides of lymph nodes of head, face and/or neck (disorder) Mycosis fungoides of the lymph nodes of head, face and neck (disorder) disease_ontology true Mycosis fungoides of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:94711005 Mycosis fungoides of the lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188619006 MTHICD9_2006:202.11 Mycosis fungoides involving lymph nodes of head, face and neck mycosis fungoides DOID:8691 DOID:8737 ICD10CM:C84.0 ICD10CM:C84.00 ICD9CM:202.1 MF MSH:D009182 Mycosis Fungoides Mycosis fungoides Mycosis fungoides (disorder) Mycosis fungoides (morphologic abnormality) Mycosis fungoides NOS (disorder) Mycosis fungoides NOS (morphologic abnormality) Mycosis fungoides of unspecified site (disorder) Mycosis fungoides, unspecified site, extranodal and solid organ sites NCI:C3246 OMIM mapping confirmed by DO. [SN]. OMIM:254400 SNOMEDCT_US_2015_03_01:118618005 SNOMEDCT_US_2015_03_01:188618003 SNOMEDCT_US_2015_03_01:188628007 SNOMEDCT_US_2015_03_01:190003004 SNOMEDCT_US_2015_03_01:190004005 SNOMEDCT_US_2015_03_01:90120004 UMLS_CUI:C0026948 disease_ontology mycosis fungoides lymphoma Mycosis fungoides (disorder) SNOMEDCT_2005_07_31:118618005 CSP2005:2004-7126 mycosis fungoides lymphoma Mycosis fungoides (morphologic abnormality) SNOMEDCT_2005_07_31:90120004 MF NCI2004_11_17:C3246 MTH:U002093 Mycosis Fungoides Mycosis fungoides SNOMEDCT_2005_07_31:190003004 Mycosis fungoides NOS (disorder) SNOMEDCT_2005_07_31:188628007 Mycosis fungoides of unspecified site (disorder) SNOMEDCT_2005_07_31:188618003 Mycosis fungoides NOS (morphologic abnormality) SNOMEDCT_2005_07_31:190004005 myeloid leukemia A leukemia that is located_in myeloid tissue. DOID:8692 DOID:8878 DOID:8879 DOID:8910 DOID:9066 DOID:9126 ICD10CM:C92 ICD10CM:C92.9 ICD10CM:C92.90 ICD9CM:205 ICD9CM:205.9 LEUKEMIA MYELOGENOUS MSH:D007951 Myelogenous Leukemia in Remission Myeloid leukaemia Myeloid leukaemia (category) Myeloid leukemia Myeloid leukemia (disorder) Myeloid leukemia NOS (disorder) Myeloid leukemia in remission (disorder) Myeloid leukemia, NOS, without mention of remission Myeloid leukemia, disease (disorder) Myeloid leukemia, disease [Ambiguous] Myeloid leukemia, no ICD-O subtype (morphologic abnormality) Myeloid leukemias (morphologic abnormality) NCI:C3172 Non-Lymphocytic Leukemia Other myeloid leukemia Other myeloid leukemia (disorder) Other myeloid leukemia (morphologic abnormality) Other myeloid leukemia NOS (disorder) Other myeloid leukemia NOS (morphologic abnormality) Other myeloid leukemia in remission Other myeloid leukemia without mention of remission SNOMEDCT_US_2015_03_01:128934006 SNOMEDCT_US_2015_03_01:154587007 SNOMEDCT_US_2015_03_01:188732008 SNOMEDCT_US_2015_03_01:188743000 SNOMEDCT_US_2015_03_01:190047005 SNOMEDCT_US_2015_03_01:269631008 SNOMEDCT_US_2015_03_01:324170002 SNOMEDCT_US_2015_03_01:37810007 SNOMEDCT_US_2015_03_01:94717009 UMLS_CUI:C0023470 Unspecified myeloid leukemia in remission Unspecified myeloid leukemia without mention of remission disease_ontology myeloid granulocytic leukemia Myeloid leukemia, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:37810007 NCI2004_11_17:C3172 Non-Lymphocytic Leukemia Myeloid leukemias (morphologic abnormality) SNOMEDCT_2005_07_31:190047005 CSP2005:2004-4431 myeloid granulocytic leukemia Myeloid leukemia, disease (disorder) SNOMEDCT_2005_07_31:324170002 Myelogenous Leukemia in Remission NCI2004_11_17:C4899 Myeloid leukemia in remission (disorder) SNOMEDCT_2005_07_31:94716000 A leukemia that is located_in myeloid tissue. url:http://en.wikipedia.org/wiki/Myeloid_leukemia Myeloid leukemia, disease [Ambiguous] SNOMEDCT_2005_07_31:94717009 Myeloid leukaemia SNOMEDCT_2005_07_31:269631008 Myeloid leukemia, NOS, without mention of remission SNOMEDCT_2005_07_31:94717009 Myeloid leukemia NOS (disorder) SNOMEDCT_2005_07_31:188743000 Myeloid leukaemia SNOMEDCT_2005_07_31:154587007 LEUKEMIA MYELOGENOUS MTH:NOCODE Other myeloid leukemia NOS (morphologic abnormality) SNOMEDCT_2005_07_31:190051007 ICD9CM_2006:205 Myeloid leukemia Other myeloid leukemia (morphologic abnormality) SNOMEDCT_2005_07_31:190159007 Myeloid leukemia (disorder) SNOMEDCT_2005_07_31:188732008 Myeloid leukaemia (category) SNOMEDCT_2005_07_31:128934006 Other myeloid leukemia NOS (disorder) SNOMEDCT_2005_07_31:188742005 Other myeloid leukemia (disorder) SNOMEDCT_2005_07_31:188740002 subacute monocytic leukemia DOID:8696 DOID:8898 ICD9CM:206.2 SNOMEDCT_US_2015_03_01:12834001 SNOMEDCT_US_2015_03_01:154596007 SNOMEDCT_US_2015_03_01:188746008 SNOMEDCT_US_2015_03_01:190059009 SNOMEDCT_US_2015_03_01:95276000 UMLS_CUI:C0152275 disease_ontology neuropathy A nervous system disease that is located_in nerves or nerve cells. DOID:870 ICD10CM:G62.9 NCI:C4731 SNOMEDCT_US_2015_03_01:193167000 SNOMEDCT_US_2015_03_01:264554005 SNOMEDCT_US_2015_03_01:277317008 SNOMEDCT_US_2015_03_01:277878001 SNOMEDCT_US_2015_03_01:386033004 SNOMEDCT_US_2015_03_01:42658009 UMLS_CUI:C0442874 disease_ontology A nervous system disease that is located_in nerves or nerve cells. url:http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck DOID:8701 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck MTHICD9_2006:201.41 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188554007 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93497000 cheek mucosa cancer DOID:8702 ICD10CM:C06.0 ICD9CM:145.0 NCI:C9320 SNOMEDCT_US_2015_03_01:363386008 SNOMEDCT_US_2015_03_01:93735006 UMLS_CUI:C0153373 disease_ontology malignant neoplasm of buccal mucosa malignant neoplasm of cheek, inner aspect malignant neoplasm of the Buccal Mucosa malignant tumor of buccal mucosa (disorder) SNOMEDCT_2005_07_31:363386008 malignant tumor of buccal mucosa (disorder) SNOMEDCT_2005_07_31:93735006 malignant neoplasm of buccal mucosa MTHICD9_2006:145.0 malignant neoplasm of cheek, inner aspect NCI2004_11_17:C9320 malignant neoplasm of the Buccal Mucosa penis herpetic infectious disease A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. DOID:8703 Herpetic infection of penis (disorder) disease_ontology true A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. url:http://kidshealth.org/parent/infections/std/herpes.htm Herpetic infection of penis (disorder) SNOMEDCT_2005_07_31:10227000 genital herpes A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. DOID:8704 DOID:8982 Genital herpes simplex (disorder) HERPES GENITALIA Herpes Genitalis ICD9CM:054.1 ICD9CM:054.10 MSH:D006558 NCI:C14364 SNOMEDCT_US_2015_03_01:154333002 SNOMEDCT_US_2015_03_01:186536000 SNOMEDCT_US_2015_03_01:186539007 SNOMEDCT_US_2015_03_01:271463009 SNOMEDCT_US_2015_03_01:33839006 UMLS_CUI:C0019342 Virus-Genital Herpes disease_ontology venereal herpes Genital herpes simplex (disorder) SNOMEDCT_2005_07_31:33839006 NCI2004_11_17:C14364 Virus-Genital Herpes CSP2005:3099-9627 venereal herpes A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. url:http://www.cdc.gov/std/herpes/stdfact-herpes.htm Herpes Genitalis MTH:328 HERPES GENITALIA MTH:363 neurofibromatosis Acoustic neurofibromatosis DOID:14750 DOID:8711 DOID:8712 DOID:9137 ICD10CM:Q85.00 ICD10CM:Q85.01 ICD10CM:Q85.02 ICD9CM:237.7 ICD9CM:237.70 ICD9CM:237.71 ICD9CM:237.72 MSH:C537392 MSH:D009456 MSH:D016518 MSH:D017253 NCI:C3273 NCI:C3274 NCI:C6727 Neurofibromatosis 1 OMIM:101000 OMIM:162200 OMIM:162210 OMIM:162260 OMIM:162270 ORDO:636 ORDO:637 ORDO:93921 Recklinghausen's neurofibromatosis SNOMEDCT_US_2015_03_01:154642000 SNOMEDCT_US_2015_03_01:19133005 SNOMEDCT_US_2015_03_01:700060008 SNOMEDCT_US_2015_03_01:700061007 SNOMEDCT_US_2015_03_01:81669005 SNOMEDCT_US_2015_03_01:92503002 SNOMEDCT_US_2015_03_01:92824003 UMLS_CUI:C0027831 UMLS_CUI:C0027832 UMLS_CUI:C0162678 UMLS_CUI:C0220695 Xref MGI. OMIM mapping confirmed by DO. [SN]. central Neurofibromatosis disease_ontology neurofibromatosis type 1 neurofibromatosis type 2 neurofibromatosis type 4 neurofibromatosis type IV peripheral Neurofibromatosis type IV neurofibromatosis of riccardi von Reklinghausen disease NCI2004_11_17:C3273 peripheral Neurofibromatosis NCI2004_11_17:C3274 central Neurofibromatosis CSP2005:2012-7338 Recklinghausen's neurofibromatosis Acoustic neurofibromatosis MTHICD9_2006:237.72 MTH:U003314 Neurofibromatosis 1 lymphosarcoma and reticulosarcoma DOID:8716 DOID:8727 DOID:8728 DOID:8764 DOID:8789 DOID:8829 DOID:8890 DOID:8933 DOID:9044 DOID:9172 DOID:9209 Lymphosarcoma and reticulosarcoma (disorder) Other named variants of lymphosarcoma and reticulosarcoma Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites Other named variants of lymphosarcoma and reticulosarcoma involving spleen Other named variants of lymphosarcoma and reticulosarcoma, unspecified site disease_ontology true MTHICD9_2006:200.81 Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck Lymphosarcoma and reticulosarcoma (disorder) SNOMEDCT_2005_07_31:188487008 decubitus ulcer DOID:8717 DOID:8808 DOID:9002 DOID:9029 DOID:9129 Decubitus (pressure) ulcer Decubitus ulcer Decubitus ulcer any site Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. Decubitus ulcer, elbow Decubitus ulcer, lower back Decubitus ulcer, other site Decubitus ulcer, upper back ICD10CM:L89 ICD10CM:L89.9 ICD9CM:707.0 ICD9CM:707.00 MSH:D003668 NCI:C50706 SNOMEDCT_US_2015_03_01:142668003 SNOMEDCT_US_2015_03_01:156424003 SNOMEDCT_US_2015_03_01:165258002 SNOMEDCT_US_2015_03_01:201248003 SNOMEDCT_US_2015_03_01:28103007 SNOMEDCT_US_2015_03_01:399912005 SNOMEDCT_US_2015_03_01:400192002 SNOMEDCT_US_2015_03_01:418172001 SNOMEDCT_US_2015_03_01:420226006 SNOMEDCT_US_2015_03_01:90144002 UMLS_CUI:C0011127 bedsore disease_ontology pressure sores pressure ulcer Decubitus ulcer SNOMEDCT_2005_07_31:165258002 MTH:U000022 pressure sores Decubitus ulcer any site MTHICD9_2006:707.0 Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore CSP2005:2718-0434 pressure ulcer Decubitus (pressure) ulcer SNOMEDCT_2005_07_31:201248003 carcinoma in situ of respiratory system A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. DOID:8718 DOID:8965 carcinoma in situ of respiratory tract (disorder) disease_ontology true SNOMEDCT_2005_07_31:92698005 carcinoma in situ of respiratory tract (disorder) A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ in situ carcinoma A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. DOID:8719 DOID:8793 DOID:8821 ICD10CM:D09.9 ICD9CM:230-234.99 ICD9CM:234.9 MSH:D002278 NCI:C2917 SNOMEDCT_US_2015_03_01:109355002 SNOMEDCT_US_2015_03_01:154635000 SNOMEDCT_US_2015_03_01:154640008 SNOMEDCT_US_2015_03_01:189208007 SNOMEDCT_US_2015_03_01:189359006 SNOMEDCT_US_2015_03_01:189548003 SNOMEDCT_US_2015_03_01:271528002 SNOMEDCT_US_2015_03_01:399919001 SNOMEDCT_US_2015_03_01:68956006 UMLS_CUI:C0007099 disease_ontology A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ soft tissue disease Connective and soft tissue disease Connective and soft tissue disorder DOID:14 DOID:44 DOID:872 disease of deep fascial system disease_ontology tissue disease true Connective and soft tissue disease NCI2004_11_17:C27574 Connective and soft tissue disorder MTH:NOCODE vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. DOID:13915 DOID:8725 ICD10CM:F01 ICD10CM:F01.5 ICD9CM:290.4 MSH:D015140 MSH:D015161 Multi Infarct Dementia NCI:C34522 NCI:C34525 SNOMEDCT_US_2015_03_01:154850006 SNOMEDCT_US_2015_03_01:191462009 SNOMEDCT_US_2015_03_01:192165000 SNOMEDCT_US_2015_03_01:192167008 SNOMEDCT_US_2015_03_01:192171006 SNOMEDCT_US_2015_03_01:268613002 SNOMEDCT_US_2015_03_01:429998004 SNOMEDCT_US_2015_03_01:56267009 UMLS_CUI:C0011263 UMLS_CUI:C0011269 disease_ontology multifocal dementia CSP2005:0485-6862 multifocal dementia MTH:NOCODE Multi Infarct Dementia NCI2004_11_17:C34522 A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. url:http://www.mayoclinic.com/health/vascular-dementia/DS00934 url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm milker's nodule A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. DOID:8729 ICD10CM:B08.04 ICD9CM:051.1 ICD9CM:051.9 MSH:D011213 Milkers' node Paravaccinia NOS (disorder) Pseudocowpox SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:186507000 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:27240009 UMLS_CUI:C0026143 disease_ontology milker nodule MTHICD9_2006:051.1 Milkers' node Paravaccinia NOS (disorder) SNOMEDCT_2005_07_31:186507000 ICD9CM_2006:051.1 Pseudocowpox A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/1132823-overview url:http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf anaerobic pneumonia An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. DOID:873 ICD9CM:482.81 UMLS_CUI:C0375327 disease_ontology pneumonia due to anaerobes An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg carotid body cancer A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. DOID:8731 ICD10CM:C75.4 ICD9CM:194.5 NCI:C3574 SNOMEDCT_US_2015_03_01:16822006 SNOMEDCT_US_2015_03_01:188342008 SNOMEDCT_US_2015_03_01:447883002 SNOMEDCT_US_2015_03_01:93740003 UMLS_CUI:C0153656 cancer of carotid body disease_ontology malignant Carotid body Paraganglioma malignant carotid body tumor (morphologic abnormality) A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. url:http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm NCI2004_11_17:C3574 malignant Carotid body Paraganglioma SNOMEDCT_2005_07_31:16822006 malignant carotid body tumor (morphologic abnormality) smallpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. DOID:8736 ICD10CM:B03 ICD9CM:050 ICD9CM:050.9 MSH:D012899 NCI:C35027 Ordinary smallpox SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:186505008 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:47452006 SNOMEDCT_US_2015_03_01:67924001 UMLS_CUI:C0037354 disease_ontology A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. url:http://www.who.int/mediacentre/factsheets/smallpox/en/ Ordinary smallpox SNOMEDCT_2005_07_31:47452006 leukoplakia of penis DOID:8738 ICD10CM:N48.0 ICD9CM:607.0 Kraurosis of penis Leucoplakia of penis Leukoplakia of penis (disorder) MSH:D052798 NCI:C3151 Penile Leukoplakia SNOMEDCT_US_2015_03_01:155932009 SNOMEDCT_US_2015_03_01:198019005 SNOMEDCT_US_2015_03_01:266639006 SNOMEDCT_US_2015_03_01:3323003 UMLS_CUI:C0022782 disease_ontology Kraurosis of penis SNOMEDCT_2005_07_31:155932009 Leucoplakia of penis SNOMEDCT_2005_07_31:198019005 Kraurosis of penis SNOMEDCT_2005_07_31:266639006 Kraurosis of penis MTHICD9_2006:607.0 NCI2004_11_17:C3151 Penile Leukoplakia Leukoplakia of penis (disorder) SNOMEDCT_2005_07_31:3323003 bacterial pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. DOID:13815 DOID:874 ICD10CM:J15.9 ICD9CM:482.9 MSH:D018410 NCI:C26704 Pneumonia due to other gram-negative bacteria SNOMEDCT_US_2015_03_01:155553007 SNOMEDCT_US_2015_03_01:195891009 SNOMEDCT_US_2015_03_01:195892002 SNOMEDCT_US_2015_03_01:53084003 UMLS_CUI:C0004626 disease_ontology gram-negative pneumonia ICD9CM_2006:482.83 Pneumonia due to other gram-negative bacteria A pneumonia involving inflammation of the lungs caused by bacteria. url:http://en.wikipedia.org/wiki/Bacterial_pneumonia seborrheic dermatitis A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. DOID:8740 DOID:8741 ICD10CM:L21 ICD10CM:L21.9 ICD9CM:690.1 ICD9CM:690.10 ICD9CM:706.3 MSH:D012628 NCI:C111888 Other seborrheic dermatitis Other seborrheic dermatitis (disorder) SKIN SEBORRHEIC SNOMEDCT_US_2015_03_01:156328004 SNOMEDCT_US_2015_03_01:156421006 SNOMEDCT_US_2015_03_01:200764003 SNOMEDCT_US_2015_03_01:201241009 SNOMEDCT_US_2015_03_01:50563003 SNOMEDCT_US_2015_03_01:86708008 Seborrhea Seborrhea (disorder) Seborrhea NOS (disorder) Seborrheic dermatitis (disorder) Seborrheic dermatitis NOS Seborrhoea Seborrhoeic dermatitis Seborrhoeic eczema UMLS_CUI:C0036508 disease_ontology seborrhea SNOMEDCT_2005_07_31:86708008 Seborrhea (disorder) MTH:670 Seborrhea A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm MTHICD9_2006:690.10 Seborrheic dermatitis NOS SNOMEDCT_2005_07_31:200764003 Seborrhoeic eczema Other seborrheic dermatitis (disorder) SNOMEDCT_2005_07_31:201359005 SNOMEDCT_2005_07_31:201241009 Seborrhea NOS (disorder) SNOMEDCT_2005_07_31:50563003 Seborrheic dermatitis (disorder) MTH:NOCODE SKIN SEBORRHEIC ICD9CM_2006:706.3 Seborrhea SNOMEDCT_2005_07_31:156421006 Seborrhoea SNOMEDCT_2005_07_31:156328004 Seborrhoeic dermatitis CSP2005:4008-0032 seborrhea Hodgkin's granuloma involving lymph nodes of head, face, and neck DOID:8742 Hodgkin's granuloma involving lymph nodes of head, face and neck Hodgkin's granuloma of lymph nodes of head, face and neck (disorder) Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) disease_ontology true Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93533001 Hodgkin's granuloma involving lymph nodes of head, face and neck MTHICD9_2006:201.11 Hodgkin's granuloma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188534006 erythema infectiosum DOID:8743 Erythema infectiosum (disorder) Fifth disease ICD10CM:B08.3 ICD9CM:057.0 MSH:D016731 NCI:C84695 SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:34730008 UMLS_CUI:C0085273 disease_ontology Fifth disease SNOMEDCT_2005_07_31:154344005 Fifth disease SNOMEDCT_2005_07_31:266193008 Fifth disease MTHICD9_2006:057.0 Erythema infectiosum (disorder) SNOMEDCT_2005_07_31:34730008 universal ulcerative colitis DOID:8745 chronic universal ulcerative colitis disease_ontology true universal ulcerative (chronic) colitis MTHICD9_2006:556.6 chronic universal ulcerative colitis subacute myeloid leukemia Atypical CML Atypical chronic myeloid leukemia (disorder) DOID:8746 DOID:8747 DOID:8993 SNOMEDCT_US_2015_03_01:95278004 UMLS_CUI:C0153889 disease_ontology Atypical CML NCI2004_11_17:C3519 Atypical chronic myeloid leukemia (disorder) SNOMEDCT_2005_07_31:277589003 acute dermatitis due to solar radiation DOID:8748 disease_ontology true actinic reticuloid and actinic granuloma DOID:8749 disease_ontology true Hodgkin's granuloma involving intrathoracic lymph nodes DOID:8751 disease_ontology true tuberculous pneumonia A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. DOID:14009 DOID:8752 disease_ontology true tuberculous bronchopneumonia A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. url:http://chestjournal.chestpubs.org/content/71/6/774.full.pdf url:http://www.bmj.com/cgi/reprint/1/4608/741.pdf Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb DOID:8754 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93498005 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188559002 gastric mucosal hypertrophy DOID:8757 DOID:9134 DOID:9242 Giant rugal hypertrophy of stomach ICD10CM:K29.6 ICD9CM:535.2 MENETRIER DISEASE MSH:D005758 NCI:C67277 OMIM mapping confirmed by DO. [SN]. OMIM:137280 SNOMEDCT_US_2015_03_01:235665008 SNOMEDCT_US_2015_03_01:413219009 SNOMEDCT_US_2015_03_01:60002000 UMLS_CUI:C0017155 disease_ontology familial giant hypertrophic gastritis hypertrophic gastritis hypertrophic gastropathy (disorder) MTHICD9_2006:535.2 hypertrophic gastritis Giant rugal hypertrophy of stomach SNOMEDCT_2005_07_31:235665008 SNOMEDCT_2005_07_31:413219009 hypertrophic gastropathy (disorder) lymphosarcoma involving lymph nodes of multiple sites DOID:8758 disease_ontology true pyomyositis DOID:876 ICD10CM:M60.0 ICD9CM:040.81 MSH:D052880 SNOMEDCT_US_2015_03_01:186430009 SNOMEDCT_US_2015_03_01:65110003 Tropical pyomyositis UMLS_CUI:C0041188 disease_ontology ICD9CM_2006:040.81 Tropical pyomyositis megakaryocytic leukemia A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. DOID:8761 DOID:9009 ICD10CM:C94.2 ICD10CM:C94.20 ICD9CM:207.2 MSH:D007947 Megakaryocytic myelosis NCI:C3170 SNOMEDCT_US_2015_03_01:188754005 SNOMEDCT_US_2015_03_01:190065009 SNOMEDCT_US_2015_03_01:190067001 SNOMEDCT_US_2015_03_01:277602003 SNOMEDCT_US_2015_03_01:52220008 SNOMEDCT_US_2015_03_01:94149003 Thrombocytic leukaemia UMLS_CUI:C0023462 acute Megakaryoblastic Leukemia (FAB type M7) acute Megakaryocytic Leukemias acute megakaryoblastic leukaemia, FAB M7 acute megakaryoblastic leukemia, FAB M7 (disorder) disease_ontology SNOMEDCT_2005_07_31:277602003 acute megakaryoblastic leukaemia, FAB M7 NCI2004_11_17:C3170 acute Megakaryoblastic Leukemia (FAB type M7) SNOMEDCT_2005_07_31:190065009 Thrombocytic leukaemia MTH:NOCODE acute Megakaryocytic Leukemias SNOMEDCT_2005_07_31:94149003 acute megakaryoblastic leukemia, FAB M7 (disorder) A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. url:http://medical-dictionary.thefreedictionary.com/megakaryocytic+leukemia MTHICD9_2006:207.2 Megakaryocytic myelosis Herpes simplex virus otitis externa A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. DOID:8762 Herpes simplex otitis externa (disorder) disease_ontology true Herpes simplex otitis externa (disorder) SNOMEDCT_2005_07_31:111856000 A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. url:http://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg Herpes simplex virus septicemia A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. DOID:8765 DOID:8971 Herpes simplex septicemia (disorder) disease_ontology true visceral herpes simplex Herpes simplex septicemia (disorder) SNOMEDCT_2005_07_31:49012006 A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. url:http://www.nlm.nih.gov/medlineplus/ency/article/001355.htm lymphosarcoma involving intra-abdominal lymph nodes DOID:8766 disease_ontology true malignant histiocytosis involving lymph nodes of axilla and upper limb DOID:8767 disease_ontology true nodular lymphoma involving spleen DOID:8768 disease_ontology true malignant histiocytosis involving lymph nodes of inguinal region and lower limb DOID:8769 disease_ontology malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder) malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) true SNOMEDCT_2005_07_31:188642004 malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:93187000 malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) reticulosarcoma involving intra-abdominal lymph nodes DOID:8770 Reticulosarcoma of intra-abdominal lymph nodes Reticulosarcoma of intra-abdominal lymph nodes (disorder) disease_ontology true Reticulosarcoma of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188491003 Reticulosarcoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:95224004 contagious pustular dermatitis A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. DOID:8771 Ecthyma contagiosum Ecthyma, Contagious ICD10CM:B08.02 ICD9CM:051.2 MSH:D004474 Orf SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:74050005 UMLS_CUI:C0013570 disease_ontology scabby mouth sheep pox thistle disease Ecthyma contagiosum MTHICD9_2006:051.2 Ecthyma, Contagious MTH:NOCODE Orf SNOMEDCT_2005_07_31:266193008 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. url:http://en.wikipedia.org/wiki/Orf_%28disease%29 url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm nodular lymphoma involving lymph nodes of head, face, and neck DOID:8773 disease_ontology nodular lymphoma involving lymph nodes of head, face and neck nodular lymphoma of lymph nodes of head, face and neck (disorder) nodular lymphoma of lymph nodes of head, face, and neck (disorder) true SNOMEDCT_2005_07_31:95190008 nodular lymphoma of lymph nodes of head, face, and neck (disorder) MTHICD9_2006:202.01 nodular lymphoma involving lymph nodes of head, face and neck SNOMEDCT_2005_07_31:188609000 nodular lymphoma of lymph nodes of head, face and neck (disorder) ulcerative proctosigmoiditis DOID:3129 DOID:8775 Proctosigmoiditis (disorder) chronic ulcerative rectosigmoiditis (disorder) disease_ontology proctosigmoiditis true ulcerative (chronic) proctosigmoiditis ulcerative proctosigmoiditis SNOMEDCT_2005_07_31:52506002 chronic ulcerative rectosigmoiditis (disorder) MTHICD9_2006:556.3 ulcerative proctosigmoiditis Proctosigmoiditis (disorder) SNOMEDCT_2005_07_31:41364008 Crohn's disease An intestinal disease that involves inflammation located_in intestine. Crohn disease Crohn's disease of colon (disorder) Crohn's disease of large bowel DOID:8778 DOID:8784 DOID:8855 DOID:8942 EFO:0000384 Granulomatous Colitis ICD10CM:K50.0 ICD9CM:555.0 MSH:C536215 added from NeuroDevNet [WAK]. NCI:C35210 Pediatric Crohn's disease SNOMEDCT_US_2015_03_01:155761004 SNOMEDCT_US_2015_03_01:196980005 SNOMEDCT_US_2015_03_01:56689002 UMLS_CUI:C0156146 disease_ontology regional Ileitis regional colitis regional enteritis regional enteritis of small intestine with large intestine regional enteritis of the large bowel regional ileocolitis Crohn's disease of large bowel MTH:NOCODE ICD9CM_2006:555 regional enteritis MTHICD9_2006:555.2 regional ileocolitis MSH:C536215 Pediatric Crohn's disease Granulomatous Colitis NCI2004_11_17:C37262 MTHICD9_2006:555.1 regional colitis Crohn disease MSH:D003424 An intestinal disease that involves inflammation located_in intestine. url:http://en.wikipedia.org/wiki/Chron%27s_disease MTHICD9_2006:555.0 regional Ileitis Crohn's disease of colon (disorder) SNOMEDCT_2005_07_31:50440006 SNOMEDCT_2005_07_31:155762006 regional enteritis of the large bowel rubella A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. DOID:11765 DOID:1463 DOID:1464 DOID:8780 DOID:8781 DOID:8816 DOID:8909 DOID:9106 DOID:9116 DOID:9162 DOID:9179 ICD10CM:B06 ICD10CM:B06.9 ICD9CM:056 MSH:D012409 NCI:C85051 SNOMEDCT_US_2015_03_01:154343004 SNOMEDCT_US_2015_03_01:266192003 SNOMEDCT_US_2015_03_01:36653000 UMLS_CUI:C0035920 disease_ontology german measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. url:http://en.wikipedia.org/wiki/Rubella SNOMEDCT_2005_07_31:266192003 german measles postherpetic polyneuropathy A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. DOID:8785 disease_ontology true A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. url:http://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277 disseminated chorioretinitis DOID:8787 Disseminated chorioretinitis (disorder) Disseminated chorioretinitis and disseminated retinochoroiditis Disseminated chorioretinitis and retinochoroiditis NOS (disorder) Disseminated chorioretinitis, unspecified ICD10CM:H30.1 ICD10CM:H30.10 ICD9CM:363.1 ICD9CM:363.10 SNOMEDCT_US_2015_03_01:193441002 SNOMEDCT_US_2015_03_01:193447003 SNOMEDCT_US_2015_03_01:78769001 UMLS_CUI:C0154879 Unspecified disseminated chorioretinitis (disorder) disease_ontology Disseminated chorioretinitis (disorder) SNOMEDCT_2005_07_31:78769001 Disseminated chorioretinitis, unspecified ICD9CM_2006:363.10 SNOMEDCT_2005_07_31:193441002 Unspecified disseminated chorioretinitis (disorder) Disseminated chorioretinitis and retinochoroiditis NOS (disorder) SNOMEDCT_2005_07_31:193447003 Disseminated chorioretinitis and disseminated retinochoroiditis ICD9CM_2006:363.1 breast carcinoma in situ DOID:8791 ICD10CM:D05 ICD10CM:D05.9 ICD9CM:233.0 NCI:C3641 Non-Infiltrating carcinoma of breast SNOMEDCT_US_2015_03_01:154636004 SNOMEDCT_US_2015_03_01:189336000 UMLS_CUI:C0154084 carcinoma in situ of breast (disorder) disease_ontology NCI2004_11_17:C3641 Non-Infiltrating carcinoma of breast SNOMEDCT_2005_07_31:189336000 carcinoma in situ of breast (disorder) eye carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. DOID:8792 ICD10CM:D09.2 ICD9CM:234.0 SNOMEDCT_US_2015_03_01:92590009 UMLS_CUI:C0154094 carcinoma in situ of eye (disorder) disease_ontology A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ SNOMEDCT_2005_07_31:92590009 carcinoma in situ of eye (disorder) Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes DOID:8794 Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93495008 Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188555008 Hodgkin's granuloma involving spleen DOID:8795 Hodgkin's granuloma of spleen Hodgkin's granuloma of spleen (disorder) disease_ontology true Hodgkin's granuloma of spleen SNOMEDCT_2005_07_31:188540004 Hodgkin's granuloma of spleen (disorder) SNOMEDCT_2005_07_31:93536009 Hodgkin's lymphoma, mixed cellularity, involving spleen DOID:8798 Hodgkin's disease, mixed cellularity of spleen Hodgkin's disease, mixed cellularity of spleen (disorder) Hodgkin's disease, mixed cellularity, involving spleen disease_ontology true Hodgkin's disease, mixed cellularity of spleen SNOMEDCT_2005_07_31:188581007 Hodgkin's disease, mixed cellularity of spleen (disorder) SNOMEDCT_2005_07_31:93509007 lung carcinoma in situ DOID:8800 ICD10CM:D02.2 ICD9CM:231.2 SNOMEDCT_US_2015_03_01:189262006 SNOMEDCT_US_2015_03_01:189268005 UMLS_CUI:C0154071 carcinoma in situ of bronchus and lung (disorder) carcinoma in situ of bronchus or lung NOS (disorder) disease_ontology SNOMEDCT_2005_07_31:189262006 carcinoma in situ of bronchus and lung (disorder) SNOMEDCT_2005_07_31:189268005 carcinoma in situ of bronchus or lung NOS (disorder) trachea carcinoma in situ DOID:8802 ICD10CM:D02.1 ICD9CM:231.1 NCI:C3639 SNOMEDCT_US_2015_03_01:92772005 Tracheal carcinoma In situ UMLS_CUI:C0154070 carcinoma in situ of trachea (disorder) disease_ontology NCI2004_11_17:C3639 Tracheal carcinoma In situ SNOMEDCT_2005_07_31:92772005 carcinoma in situ of trachea (disorder) repetitive intrusions of sleep DOID:8803 Repetitive intrusions of sleep (disorder) disease_ontology true Repetitive intrusions of sleep (disorder) SNOMEDCT_2005_07_31:268654005 intermediate coronary syndrome (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) Angina at rest Anginal chest pain at rest DOID:8805 ICD10CM:I20.0 ICD9CM:411.1 Impending infarction (disorder) MSH:D000789 NCI:C66911 Preinfarction angina Preinfarction angina (disorder) SNOMEDCT_US_2015_03_01:155308009 SNOMEDCT_US_2015_03_01:155313008 SNOMEDCT_US_2015_03_01:155314002 SNOMEDCT_US_2015_03_01:194814006 SNOMEDCT_US_2015_03_01:194816008 SNOMEDCT_US_2015_03_01:194817004 SNOMEDCT_US_2015_03_01:194819001 SNOMEDCT_US_2015_03_01:233818002 SNOMEDCT_US_2015_03_01:233820004 SNOMEDCT_US_2015_03_01:25106000 SNOMEDCT_US_2015_03_01:4557003 SNOMEDCT_US_2015_03_01:59021001 SNOMEDCT_US_2015_03_01:64333001 UMLS_CUI:C0002965 Unstable angina Worsening angina disease_ontology (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) SNOMEDCT_2005_07_31:194814006 Anginal chest pain at rest SNOMEDCT_2005_07_31:59021001 Angina at rest SNOMEDCT_2005_07_31:194817004 SNOMEDCT_2005_07_31:194819001 Worsening angina MTH:NOCODE Unstable angina Angina at rest SNOMEDCT_2005_07_31:155313008 Angina at rest SNOMEDCT_2005_07_31:233818002 SNOMEDCT_2005_07_31:4557003 Worsening angina MTHICD9_2006:411.1 Preinfarction angina SNOMEDCT_2005_07_31:155314002 Worsening angina SNOMEDCT_2005_07_31:194816008 Unstable angina SNOMEDCT_2005_07_31:233820004 Unstable angina SNOMEDCT_2005_07_31:155308009 Unstable angina Impending infarction (disorder) SNOMEDCT_2005_07_31:25106000 Preinfarction angina (disorder) SNOMEDCT_2005_07_31:64333001 malignant histiocytosis involving intrapelvic lymph nodes DOID:8806 disease_ontology malignant histiocytosis of intrapelvic lymph nodes (disorder) true SNOMEDCT_2005_07_31:93183001 malignant histiocytosis of intrapelvic lymph nodes (disorder) allergic gastroenteritis and colitis DOID:8807 disease_ontology true malignant histiocytosis involving intrathoracic lymph nodes DOID:8811 disease_ontology malignant histiocytosis of intrathoracic lymph nodes (disorder) true SNOMEDCT_2005_07_31:93184007 malignant histiocytosis of intrathoracic lymph nodes (disorder) Measles virus otitis media A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. DOID:8812 disease_ontology postmeasles otitis media true A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false heterophyiasis A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. DOID:882 ICD10CM:B66.8 ICD9CM:121.6 SNOMEDCT_US_2015_03_01:187126008 SNOMEDCT_US_2015_03_01:22905009 UMLS_CUI:C0152071 disease_ontology heterophyes infectious disease A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm ulcerative ileocolitis DOID:8820 chronic ulcerative ileocolitis chronic ulcerative ileocolitis (disorder) disease_ontology true ulcerative (chronic) ileocolitis SNOMEDCT_2005_07_31:13470001 chronic ulcerative ileocolitis (disorder) MTHICD9_2006:556.1 chronic ulcerative ileocolitis Hodgkin's paragranuloma involving spleen DOID:8825 Hodgkin's Paragranuloma Involving Spleen Hodgkin's paragranuloma of spleen Hodgkin's paragranuloma of spleen (disorder) disease_ontology true Hodgkin's paragranuloma of spleen SNOMEDCT_2005_07_31:188530002 Hodgkin's Paragranuloma Involving Spleen NCI2004_11_17:C26961 Hodgkin's paragranuloma of spleen (disorder) SNOMEDCT_2005_07_31:93545005 colon carcinoma in situ DOID:8826 ICD10CM:D01.0 ICD9CM:230.3 NCI:C3638 SNOMEDCT_US_2015_03_01:189230008 SNOMEDCT_US_2015_03_01:92568009 UMLS_CUI:C0154061 carcinoma in situ of colon (disorder) carcinoma in situ of colon NOS (disorder) disease_ontology stage 0 Colonic carcinoma NCI2004_11_17:C3638 stage 0 Colonic carcinoma SNOMEDCT_2005_07_31:189230008 carcinoma in situ of colon NOS (disorder) SNOMEDCT_2005_07_31:92568009 carcinoma in situ of colon (disorder) systemic inflammatory response syndrome DOID:8828 SIRS disease_ontology systemic inflammatory response syndrome (SIRS) NOS systemic inflammatory response syndrome, unspecified true MTHICD9_2006:995.90 systemic inflammatory response syndrome (SIRS) NOS ICD9CM_2006:995.90 systemic inflammatory response syndrome, unspecified parasitic helminthiasis infectious disease A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. DOID:10693 DOID:3563 DOID:458 DOID:883 DOID:932 ICD10CM:B65-B83 ICD10CM:B83.9 ICD9CM:120-129.99 ICD9CM:128.9 MSH:D006373 NCI:C84751 SNOMEDCT_US_2015_03_01:154410004 SNOMEDCT_US_2015_03_01:187189004 SNOMEDCT_US_2015_03_01:187518006 SNOMEDCT_US_2015_03_01:187542005 SNOMEDCT_US_2015_03_01:266219000 SNOMEDCT_US_2015_03_01:27601005 UMLS_CUI:C0018889 disease_ontology helminth infection helminthiasis helminthosis worm infection A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. url:http://en.wikipedia.org/wiki/Helminth url:http://en.wikipedia.org/wiki/Helminthiasis Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites DOID:8832 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) disease_ontology true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93499002 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188562004 Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck Burkitt's lymphoma of lymph nodes of head, face and neck (disorder) Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck DOID:8836 disease_ontology true Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck MTHICD9_2006:200.21 Burkitt's lymphoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188510001 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck DOID:8837 Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck disease_ontology true Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188565002 Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93515007 Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck MTHICD9_2006:201.51 Hodgkin's lymphoma, nodular sclerosis Classical Hodgkin lymphoma, nodular sclerosis DOID:8838 Hodgkin lymphoma, nodular sclerosis Hodgkin's disease nodular sclerosis NOS Hodgkin's disease, nodular sclerosis Hodgkin's disease, nodular sclerosis (disorder) Hodgkin's disease, nodular sclerosis NOS (disorder) Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) Hodgkin's disease, nodular sclerosis of unspecified site (disorder) ICD10CM:C81.1 ICD9CM:201.5 NCI:C3518 NSHL SNOMEDCT_US_2015_03_01:118608000 SNOMEDCT_US_2015_03_01:134178004 SNOMEDCT_US_2015_03_01:188564003 SNOMEDCT_US_2015_03_01:188573006 SNOMEDCT_US_2015_03_01:52248008 UMLS_CUI:C0152268 disease_ontology NCI2004_11_17:C3518 NSHL Classical Hodgkin lymphoma, nodular sclerosis SNOMEDCT_2005_07_31:52248008 Hodgkin's disease nodular sclerosis NOS MTHICD9_2006:201.5 Hodgkin's disease, nodular sclerosis NOS (disorder) SNOMEDCT_2005_07_31:188573006 Hodgkin's disease, nodular sclerosis (disorder) SNOMEDCT_2005_07_31:118608000 Hodgkin's disease, nodular sclerosis of unspecified site (disorder) SNOMEDCT_2005_07_31:188564003 Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:134178004 herpes zoster keratoconjunctivitis An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. DOID:8839 Herpes zoster keratitis disease_ontology true An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. url:http://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false Herpes zoster keratitis SNOMEDCT_2005_07_31:42448002 metagonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. DOID:884 ICD10CM:B66.8 ICD9CM:121.5 Infection by Metagonimus yokogawai Infection by Metagonimus yokogawai (disorder) MSH:D014201 SNOMEDCT_US_2015_03_01:37832003 UMLS_CUI:C0025530 disease_ontology Infection by Metagonimus yokogawai (disorder) SNOMEDCT_2005_07_31:37832003 Infection by Metagonimus yokogawai MTHICD9_2006:121.5 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm tuberculous erythema nodosum DOID:8844 Erythema nodosum with hypersensitivity reaction in tuberculosis Erythema nodosum with tuberculosis NOS (disorder) Erythema nodosum, tuberculous Tuberculous erythema nodosum Tuberculous erythema nodosum (disorder) disease_ontology erythema nodosum with hypersensitivity reaction in tuberculosis true Erythema nodosum with hypersensitivity reaction in tuberculosis ICD9CM_2006:017.1 SNOMEDCT_2005_07_31:186256000 Tuberculous erythema nodosum Erythema nodosum with tuberculosis NOS (disorder) SNOMEDCT_2005_07_31:186257009 Erythema nodosum, tuberculous MTHICD9_2006:017.1 SNOMEDCT_2005_07_31:186255001 Tuberculous erythema nodosum SNOMEDCT_2005_07_31:74610006 Tuberculous erythema nodosum (disorder) Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites DOID:8847 Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites disease_ontology nodular Sclerosis Hodgkin's Lymphoma stage III true Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93517004 Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188572001 NCI2004_11_17:C3581 nodular Sclerosis Hodgkin's Lymphoma stage III sublingual gland cancer A salivary gland cancer that is located_in the sublingual gland. DOID:8849 ICD10CM:C08.1 ICD9CM:142.2 NCI:C3527 SNOMEDCT_US_2015_03_01:363381003 SNOMEDCT_US_2015_03_01:94076001 UMLS_CUI:C0153361 disease_ontology malignant tumor of sublingual gland (disorder) malignant tumor of the Sublingual gland SNOMEDCT_2005_07_31:363381003 malignant tumor of sublingual gland (disorder) A salivary gland cancer that is located_in the sublingual gland. url:http://en.wikipedia.org/wiki/Sublingual_gland NCI2004_11_17:C3527 malignant tumor of the Sublingual gland fascioliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. DOID:885 Fasciola hepatica infection (disorder) ICD10CM:B66.3 ICD9CM:121.3 Infection by Fasciola (disorder) Liver flukes NOS Liver flukes NOS (disorder) MSH:D005211 SNOMEDCT_US_2015_03_01:111922007 SNOMEDCT_US_2015_03_01:187125007 Sheep liver fluke infection UMLS_CUI:C0015652 disease_ontology SNOMEDCT_2005_07_31:187125007 Sheep liver fluke infection Fasciola hepatica infection (disorder) SNOMEDCT_2005_07_31:82308007 Liver flukes NOS MTHICD9_2006:121.3 Liver flukes NOS (disorder) SNOMEDCT_2005_07_31:240799001 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. url:http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm Infection by Fasciola (disorder) SNOMEDCT_2005_07_31:111922007 salivary gland cancer An oral cavity cancer that is located_in the salivary gland. DOID:8850 DOID:8873 DOID:9148 ICD10CM:C08 ICD9CM:142.8 SNOMEDCT_US_2015_03_01:187648003 UMLS_CUI:C0153362 disease_ontology malignant neoplasm of major salivary gland malignant neoplasm of salivary gland malignant neoplasm of salivary gland duct malignant tumor of the Major Salivary gland malignant tumor of the Salivary gland NCI2004_11_17:C4762 malignant tumor of the Major Salivary gland MTH:NOCODE malignant neoplasm of salivary gland An oral cavity cancer that is located_in the salivary gland. url:http://www.cancer.gov/dictionary?CdrID=446528 SNOMEDCT_2005_07_31:109828002 malignant neoplasm of salivary gland duct NCI2004_11_17:C3811 malignant tumor of the Salivary gland MTH:U001373 malignant neoplasm of major salivary gland Hodgkin's granuloma involving intra-abdominal lymph nodes DOID:8852 Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) disease_ontology true Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188536008 Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93529008 Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes DOID:8854 Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder) Hodgkin's disease, lymphocytic depletion, involving intrathoracic lymph nodes disease_ontology true Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188586002 Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93486000 lupus erythematosus DOID:8857 ICD10CM:L93 ICD10CM:L93.0 ICD9CM:695.4 Lupus Erythematosus Lupus erythematosus (disorder) Lupus erythematosus NOS (disorder) NCI:C27153 SNOMEDCT_US_2015_03_01:200936003 SNOMEDCT_US_2015_03_01:200944003 UMLS_CUI:C0409974 disease_ontology lupus Lupus Erythematosus MTH:NOCODE Lupus erythematosus (disorder) SNOMEDCT_2005_07_31:200936003 NCI2004_11_17:C27153 lupus Lupus erythematosus NOS (disorder) SNOMEDCT_2005_07_31:200944003 tonsil cancer DOID:8858 ICD10CM:C09 ICD10CM:C09.9 ICD9CM:146.0 MSH:D014067 NCI:C7404 SNOMEDCT_US_2015_03_01:187671001 SNOMEDCT_US_2015_03_01:187672008 SNOMEDCT_US_2015_03_01:187674009 SNOMEDCT_US_2015_03_01:363393007 SNOMEDCT_US_2015_03_01:93937006 UMLS_CUI:C0751560 disease_ontology malignant Tonsillar tumor malignant neoplasm of faucial tonsil (disorder) malignant neoplasm of palatine tonsil (disorder) malignant neoplasm of tonsil, faucial malignant tumor of tonsil (disorder) NCI2004_11_17:C7404 malignant Tonsillar tumor SNOMEDCT_2005_07_31:187671001 malignant neoplasm of faucial tonsil (disorder) SNOMEDCT_2005_07_31:363393007 malignant tumor of tonsil (disorder) SNOMEDCT_2005_07_31:187672008 malignant neoplasm of palatine tonsil (disorder) MTHICD9_2006:146.0 malignant neoplasm of tonsil, faucial lymphosarcoma involving spleen DOID:8860 disease_ontology true pulmonary subvalvular stenosis Congenital Infundibular Stenosis DOID:8861 ICD10CM:Q24.3 ICD9CM:746.83 Infundibular pulmonic stenosis (disorder) Infundibular pulmonic stenosis, congenital MSH:D011662 NCI:C34961 SNOMEDCT_US_2015_03_01:204370002 SNOMEDCT_US_2015_03_01:3192005 Subvalvular pulmonic stenosis UMLS_CUI:C0034084 disease_ontology pulmonary infundibular stenosis (disorder) Infundibular pulmonic stenosis (disorder) SNOMEDCT_2005_07_31:3192005 SNOMEDCT_2005_07_31:204370002 pulmonary infundibular stenosis (disorder) ICD9CM_2006:746.83 Infundibular pulmonic stenosis, congenital MTHICD9_2006:746.83 Subvalvular pulmonic stenosis Congenital Infundibular Stenosis NCI2004_11_17:C34961 acute monocytic leukemia CSP:2004-2820 DOID:8864 DOID:9208 ICD9CM:206.0 MSH:D007948 OMIM mapping confirmed by DO. [SN]. OMIM:151380 SNOMEDCT_US_2015_03_01:154594005 SNOMEDCT_US_2015_03_01:22331004 SNOMEDCT_US_2015_03_01:413441006 SNOMEDCT_US_2015_03_01:91859000 UMLS_CUI:C0023465 acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 (disorder) acute monocytic leukemia, morphology (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:91859000 acute monocytic leukemia, FAB M5 (disorder) SNOMEDCT_2005_07_31:22331004 acute monocytic leukemia, morphology (morphologic abnormality) NCI2004_11_17:C7318 acute Monoblastic Leukemia and acute Monocytic Leukemia actinic keratosis DOID:8866 ICD10CM:L57.0 ICD9CM:702.0 MSH:D055623 NCI:C3148 SK - Solar keratosis SNOMEDCT_US_2015_03_01:156395005 SNOMEDCT_US_2015_03_01:156398007 SNOMEDCT_US_2015_03_01:156400006 SNOMEDCT_US_2015_03_01:201096007 SNOMEDCT_US_2015_03_01:201097003 SNOMEDCT_US_2015_03_01:201098008 SNOMEDCT_US_2015_03_01:201101007 SNOMEDCT_US_2015_03_01:201106002 SNOMEDCT_US_2015_03_01:201107006 SNOMEDCT_US_2015_03_01:267858008 SNOMEDCT_US_2015_03_01:267860005 SNOMEDCT_US_2015_03_01:46795000 SNOMEDCT_US_2015_03_01:856006 Senile hyperkeratosis Solar keratosis UMLS_CUI:C0022602 actinic (Solar) Keratosis actinic keratosis (disorder) actinic keratosis (morphologic abnormality) disease_ontology SNOMEDCT_2005_07_31:267860005 Solar keratosis SNOMEDCT_2005_07_31:201106002 Senile hyperkeratosis SNOMEDCT_2005_07_31:156400006 Solar keratosis SK - Solar keratosis SNOMEDCT_2005_07_31:46795000 SNOMEDCT_2005_07_31:856006 actinic keratosis (morphologic abnormality) SNOMEDCT_2005_07_31:201101007 actinic keratosis (disorder) SNOMEDCT_2005_07_31:201098008 Senile hyperkeratosis NCI2004_11_17:C3148 actinic (Solar) Keratosis SNOMEDCT_2005_07_31:156398007 Senile hyperkeratosis molluscum contagiosum A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. DOID:8867 ICD10CM:B08.1 ICD9CM:078.0 MSH:D008976 SNOMEDCT_US_2015_03_01:154360009 SNOMEDCT_US_2015_03_01:40070004 UMLS_CUI:C0026393 disease_ontology A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. url:http://en.wikipedia.org/wiki/Molluscum_contagiosum url:http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm Mycosis fungoides involving lymph nodes of multiple sites DOID:8868 Mycosis fungoides of lymph nodes of multiple sites (disorder) disease_ontology true Mycosis fungoides of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:94713008 Mycosis fungoides of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188627002 neuromyelitis optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. DOID:8869 Devic's disease Devic's syndrome EFO:0004256 ICD10CM:G36.0 ICD9CM:341.0 MSH:D009471 NCI:C84934 Neuromyelitis optica (disorder) SNOMEDCT_US_2015_03_01:25044007 UMLS_CUI:C0027873 disease_ontology Neuromyelitis optica (disorder) SNOMEDCT_2005_07_31:25044007 A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. url:http://en.wikipedia.org/wiki/Neuromyelitis_optica Devic's disease ICD10CM:G36.0 Trematoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. DOID:887 Fluke infection Trematode infestation disease_ontology true A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. url:http://en.wikipedia.org/wiki/Trematoda SNOMEDCT_2005_07_31:266219000 Trematode infestation Fluke infection SNOMEDCT_2005_07_31:51065006 nodular lymphoma involving intrathoracic lymph nodes DOID:8870 disease_ontology nodular lymphoma of intrathoracic lymph nodes nodular lymphoma of intrathoracic lymph nodes (disorder) true SNOMEDCT_2005_07_31:188610005 nodular lymphoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:95188007 nodular lymphoma of intrathoracic lymph nodes (disorder) Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites DOID:8871 Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites disease_ontology true penis carcinoma in situ Bowen's disease of penis (disorder) DOID:8872 ICD10CM:D00-D09 ICD10CM:D07.4 ICD9CM:233.5 NCI:C27790 Penile intraepithelial neoplasia grade III Queyrat's erythroplasia Queyrat's erythroplasia (disorder) Queyrat's erythroplasia (morphologic abnormality) SNOMEDCT_US_2015_03_01:18348002 SNOMEDCT_US_2015_03_01:189208007 SNOMEDCT_US_2015_03_01:255104003 SNOMEDCT_US_2015_03_01:255105002 SNOMEDCT_US_2015_03_01:255147003 SNOMEDCT_US_2015_03_01:398768004 SNOMEDCT_US_2015_03_01:398831006 SNOMEDCT_US_2015_03_01:400092004 SNOMEDCT_US_2015_03_01:92679008 UMLS_CUI:C0154089 carcinoma in situ of penis (disorder) disease_ontology grade III squamous Intraepithelial Lesion of penis Bowen's disease of penis (disorder) SNOMEDCT_2005_07_31:398831006 Penile intraepithelial neoplasia grade III SNOMEDCT_2005_07_31:400092004 Queyrat's erythroplasia SNOMEDCT_2005_07_31:255147003 Queyrat's erythroplasia (disorder) SNOMEDCT_2005_07_31:398768004 Queyrat's erythroplasia SNOMEDCT_2005_07_31:255105002 Queyrat's erythroplasia (morphologic abnormality) SNOMEDCT_2005_07_31:18348002 NCI2004_11_17:C27790 grade III squamous Intraepithelial Lesion of penis SNOMEDCT_2005_07_31:92679008 carcinoma in situ of penis (disorder) Queyrat's erythroplasia (disorder) SNOMEDCT_2005_07_31:255104003 Hodgkin's sarcoma involving lymph nodes of multiple sites DOID:8875 Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) disease_ontology true Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93553002 Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188551004 herpetic vulvovaginitis A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. DOID:8876 Herpetic Vulvovaginitis Herpetic vulvovaginitis (disorder) disease_ontology true Herpetic Vulvovaginitis NCI2004_11_17:C34697 A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false Herpetic vulvovaginitis (disorder) SNOMEDCT_2005_07_31:27420004 fasciolopsiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. DOID:888 ICD10CM:B66.5 ICD9CM:121.4 Infection by Fasciolopsis buski (disorder) Infectious Disease by Fasciolopsis MSH:D014201 SNOMEDCT_US_2015_03_01:54266002 UMLS_CUI:C0015656 disease_ontology A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. url:http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm Infection by Fasciolopsis buski (disorder) SNOMEDCT_2005_07_31:54266002 Infectious Disease by Fasciolopsis MTHICD9_2006:121.4 rosacea Acne rosacea (disorder) Acne roscea Acne, erythematosa DOID:8881 ICD10CM:L71 ICD10CM:L71.9 ICD9CM:695.3 MSH:D012393 NCI:C97136 Rosacea (disorder) Rosacea NOS (disorder) SNOMEDCT_US_2015_03_01:156364003 SNOMEDCT_US_2015_03_01:1612004 SNOMEDCT_US_2015_03_01:200930009 SNOMEDCT_US_2015_03_01:200935004 SNOMEDCT_US_2015_03_01:267849001 SNOMEDCT_US_2015_03_01:398909004 UMLS_CUI:C0035854 disease_ontology Acne rosacea (disorder) SNOMEDCT_2005_07_31:1612004 Rosacea NOS (disorder) SNOMEDCT_2005_07_31:200935004 Acne, erythematosa MTHICD9_2006:695.3 Rosacea (disorder) SNOMEDCT_2005_07_31:398909004 Acne roscea SNOMEDCT_2005_07_31:267849001 Acne roscea SNOMEDCT_2005_07_31:156364003 lower lip cancer DOID:8883 ICD10CM:C00.1 ICD9CM:140.1 SNOMEDCT_US_2015_03_01:187603002 SNOMEDCT_US_2015_03_01:187605009 SNOMEDCT_US_2015_03_01:363373004 SNOMEDCT_US_2015_03_01:94136008 UMLS_CUI:C0432520 disease_ontology chorioretinitis Chorioretinitis (& photoretinitis) Chorioretinitis (disorder) Chorioretinitis, unspecified DOID:8886 ICD10CM:H30 ICD10CM:H30.9 ICD9CM:363.20 MSH:D002825 NCI:C110923 Other and unspecified forms of chorioretinitis and retinochoroiditis Other chorioretinitis and retinochoroiditis (disorder) Other chorioretinitis or retinochoroiditis NOS (disorder) Retinitis and chorioretinitis SNOMEDCT_US_2015_03_01:193432007 SNOMEDCT_US_2015_03_01:270531006 SNOMEDCT_US_2015_03_01:46627006 UMLS_CUI:C0008513 disease_ontology retinochoroiditis Chorioretinitis (& photoretinitis) SNOMEDCT_2005_07_31:270531006 ICD9CM_2006:363.2 Other and unspecified forms of chorioretinitis and retinochoroiditis Chorioretinitis (disorder) SNOMEDCT_2005_07_31:46627006 Chorioretinitis, unspecified ICD9CM_2006:363.20 Other chorioretinitis or retinochoroiditis NOS (disorder) SNOMEDCT_2005_07_31:193454009 Chorioretinitis (& photoretinitis) SNOMEDCT_2005_07_31:155199002 CSP2005:1114-9328 retinochoroiditis Retinitis and chorioretinitis SNOMEDCT_2005_07_31:193432007 Other chorioretinitis and retinochoroiditis (disorder) SNOMEDCT_2005_07_31:193448008 inborn metabolic brain disease DOID:889 disease_ontology true pityriasis rosea DOID:8892 ICD10CM:L42 ICD9CM:696.3 MSH:D017515 NCI:C26855 Pityriasis Rosea Pityriasis circinata Pityriasis rosea (disorder) SNOMEDCT_US_2015_03_01:156373006 SNOMEDCT_US_2015_03_01:77252004 UMLS_CUI:C0032026 disease_ontology NCI2004_11_17:C26855 Pityriasis Rosea MTHICD9_2006:696.3 Pityriasis circinata Pityriasis rosea (disorder) SNOMEDCT_2005_07_31:77252004 psoriasis DOID:8893 EFO:0000676 ICD10CM:L40 ICD10CM:L40.9 MSH:D011565 NCI:C3346 OMIM:177900 OMIM:601454 OMIM:602723 OMIM:603935 OMIM:604316 OMIM:605364 OMIM:605606 OMIM:607857 OMIM:610707 OMIM:612410 OMIM:612599 OMIM:612950 OMIM:614070 SNOMEDCT_US_2015_03_01:156369008 SNOMEDCT_US_2015_03_01:156371008 SNOMEDCT_US_2015_03_01:200961000 SNOMEDCT_US_2015_03_01:200978009 SNOMEDCT_US_2015_03_01:267851002 SNOMEDCT_US_2015_03_01:9014002 UMLS_CUI:C0033860 Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860. disease_ontology mitochondrial encephalomyopathy DOID:890 MSH:D017237 SNOMEDCT_US_2015_03_01:447292006 UMLS_CUI:C0162666 disease_ontology Hodgkin's granuloma involving lymph nodes of axilla and upper limb DOID:8903 Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188537004 Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93532006 nodular lymphoma involving lymph nodes of inguinal region and lower limb DOID:8904 disease_ontology nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) true SNOMEDCT_2005_07_31:188613007 nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:95191007 nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) herpes zoster otitis externa A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. DOID:8906 Herpes zoster otitis externa Otitis externa due to Herpes zoster (disorder) disease_ontology true Herpes zoster otitis externa SNOMEDCT_2005_07_31:21954000 A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. url:http://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false Otitis externa due to Herpes zoster (disorder) SNOMEDCT_2005_07_31:36292003 ulcerative proctitis DOID:8907 Nonspecific ulcerative proctitis (disorder) chronic ulcerative proctitis chronic ulcerative proctitis (disorder) disease_ontology true ulcerative (chronic) proctitis SNOMEDCT_2005_07_31:52231000 chronic ulcerative proctitis (disorder) MTHICD9_2006:556.2 chronic ulcerative proctitis Nonspecific ulcerative proctitis (disorder) SNOMEDCT_2005_07_31:67038005 progressive myoclonus epilepsy DOID:891 MSH:D020191 NCI:C7636 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. OMIM:254900 OMIM:310370 OMIM:611726 OMIM:612437 OMIM:613832 OMIM:614018 PME SNOMEDCT_US_2015_03_01:192844008 SNOMEDCT_US_2015_03_01:267581004 SNOMEDCT_US_2015_03_01:89480000 UMLS_CUI:C0751778 disease_ontology progressive Myoclonus epilepsy progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) progressive myoclonic epilepsy (disorder) [Ambiguous] NCI2004_11_17:C7636 progressive Myoclonus epilepsy MTHICD9_2006:333.2 progressive myoclonic epilepsy SNOMEDCT_2005_07_31:89480000 progressive myoclonic epilepsy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:267581004 progressive myoclonic epilepsy (disorder) SNOMEDCT_2005_07_31:192844008 progressive myoclonic epilepsy tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. DOID:8912 ICD10CM:B36.1 ICD9CM:111.1 Infection by Cladosporium werneckii Keratomycosis nigricans SNOMEDCT_US_2015_03_01:1022006 SNOMEDCT_US_2015_03_01:183342005 SNOMEDCT_US_2015_03_01:184346000 SNOMEDCT_US_2015_03_01:185367005 SNOMEDCT_US_2015_03_01:186289000 SNOMEDCT_US_2015_03_01:187000000 SNOMEDCT_US_2015_03_01:266153005 Tinea palmaris nigra UMLS_CUI:C0152067 disease_ontology microsporosis nigra SNOMEDCT_2005_07_31:184346000 Tinea palmaris nigra Keratomycosis nigricans SNOMEDCT_2005_07_31:266153005 A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. url:http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html Infection by Cladosporium werneckii SNOMEDCT_2005_07_31:183342005 dermatophytosis A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. DOID:8913 ICD10CM:B35 ICD10CM:B35.9 ICD9CM:110 ICD9CM:110.9 NCI:C26745 SNOMEDCT_US_2015_03_01:154394006 SNOMEDCT_US_2015_03_01:186984003 SNOMEDCT_US_2015_03_01:186998006 SNOMEDCT_US_2015_03_01:187474000 SNOMEDCT_US_2015_03_01:266214005 SNOMEDCT_US_2015_03_01:47382004 UMLS_CUI:C0011636 disease_ontology A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html Burkitt's tumor or lymphoma involving intrapelvic lymph nodes Burkitt's lymphoma of intrapelvic lymph nodes (disorder) DOID:8914 disease_ontology true Burkitt's lymphoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188515006 herpes zoster meningitis A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. DOID:8915 disease_ontology true A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. url:http://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf mycosis fungoides involving lymph nodes of axilla and upper limb DOID:8916 disease_ontology true Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb DOID:8918 Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93552007 Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188548006 Mycosis fungoides involving lymph nodes of inguinal region and lower limb DOID:8919 Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder) Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:94712003 Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188624009 leukoplakia of vagina DOID:8920 ICD10CM:N89.4 ICD9CM:623.1 Leukoplakia of vagina (disorder) NCI:C3663 SNOMEDCT_US_2015_03_01:111420009 UMLS_CUI:C0156385 disease_ontology vaginal Leukoplakia NCI2004_11_17:C3663 vaginal Leukoplakia Leukoplakia of vagina (disorder) SNOMEDCT_2005_07_31:111420009 noninflammatory vaginal disorder DOID:8921 disease_ontology true skin melanoma A skin cancer that has_material_basis_in melanocytes. DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 DOID:8923 ICD10CM:C43 ICD10CM:C43.0 ICD10CM:C43.2 ICD10CM:C43.4 ICD10CM:C43.9 ICD9CM:172 ICD9CM:172.0 ICD9CM:172.2 ICD9CM:172.4 ICD9CM:172.5 ICD9CM:172.9 MSH:C562393 NCI:C3510 OMIM:608035 OMIM:609048 OMIM:612263 OMIM:613099 OMIM:613972 OMIM:614456 OMIM:615134 OMIM:615848 SNOMEDCT_US_2015_03_01:154501005 SNOMEDCT_US_2015_03_01:154506000 SNOMEDCT_US_2015_03_01:188030005 SNOMEDCT_US_2015_03_01:188032002 SNOMEDCT_US_2015_03_01:188035000 SNOMEDCT_US_2015_03_01:188044004 SNOMEDCT_US_2015_03_01:188047006 SNOMEDCT_US_2015_03_01:188082007 SNOMEDCT_US_2015_03_01:190105009 SNOMEDCT_US_2015_03_01:269577007 SNOMEDCT_US_2015_03_01:93640008 SNOMEDCT_US_2015_03_01:93641007 SNOMEDCT_US_2015_03_01:93653006 SNOMEDCT_US_2015_03_01:93655004 UMLS_CUI:C0151779 UMLS_CUI:C0153529 UMLS_CUI:C0153535 UMLS_CUI:C0153536 UMLS_CUI:C0346773 UMLS_CUI:C0346782 UMLS_CUI:C1112782 Xref MGI. OMIM mapping confirmed by DO. [LS]. cutaneous melanoma disease_ontology malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma A skin cancer that has_material_basis_in melanocytes. url:http://cancergenome.nih.gov/cancersselected/melanoma url:http://en.wikipedia.org/wiki/Melanoma url:http://www.cancer.gov/dictionary?CdrID=45135 autoimmune thrombocytopenic purpura A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. Autoimmune thrombocytopenic purpura DOID:0050124 DOID:2220 DOID:8924 ICD10CM:D69.3 ICD9CM:287.31 Ideopath thrombocytopenic pur Idiopathic purpura Immune thrombocytopenic purpura (disorder) MSH:D016553 NCI:C3446 OMIM mapping confirmed by DO. [SN]. OMIM:188030 SNOMEDCT_US_2015_03_01:13172003 SNOMEDCT_US_2015_03_01:154825008 SNOMEDCT_US_2015_03_01:191315003 SNOMEDCT_US_2015_03_01:191316002 SNOMEDCT_US_2015_03_01:234490009 SNOMEDCT_US_2015_03_01:267567001 SNOMEDCT_US_2015_03_01:32273002 UMLS_CUI:C0398650 disease_ontology idiopathic thrombocytopenic purpura primary thrombocytopenic purpura werlhof's disease Idiopathic purpura SNOMEDCT_2005_07_31:191315003 Autoimmune thrombocytopenic purpura SNOMEDCT_2005_07_31:13172003 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. sn:IEDB Ideopath thrombocytopenic pur SNOMEDCT_2005_07_31:154825008 Immune thrombocytopenic purpura (disorder) SNOMEDCT_2005_07_31:234490009 primary thrombocytopenia DOID:8925 DOID:8945 ICD10CM:D69.4 ICD10CM:D69.49 ICD9CM:287.39 SNOMEDCT_US_2015_03_01:191435001 UMLS_CUI:C0477317 disease_ontology learning disability A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. Academic skill disorder DOID:2847 DOID:8927 ICD10CM:F81.9 MSH:D007859 NCI:C89334 SNOMEDCT_US_2015_03_01:154973004 SNOMEDCT_US_2015_03_01:154974005 SNOMEDCT_US_2015_03_01:1855002 SNOMEDCT_US_2015_03_01:192531005 SNOMEDCT_US_2015_03_01:247576004 SNOMEDCT_US_2015_03_01:367332004 SNOMEDCT_US_2015_03_01:389991004 UMLS_CUI:C0023186 UMLS_CUI:C0751265 disease_ontology learning disorder CSP2005:2483-6402 learning disorder Academic skill disorder SNOMEDCT_2005_07_31:1855002 A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. url:http://en.wikipedia.org/wiki/Learning_disability url:http://www.ldonline.org/ldbasics/whatisld lymphosarcoma involving lymph nodes of head, face, and neck DOID:8928 disease_ontology true atrophic gastritis DOID:8929 DOID:9048 DOID:9083 ICD10CM:K29.4 ICD9CM:535.1 ICD9CM:535.11 MSH:D005757 NCI:C7405 NCI:C95752 SNOMEDCT_US_2015_03_01:155713006 SNOMEDCT_US_2015_03_01:196733008 SNOMEDCT_US_2015_03_01:270533009 SNOMEDCT_US_2015_03_01:84568007 UMLS_CUI:C0017154 UMLS_CUI:C0156073 disease_ontology gastric atrophy NCI2004_11_17:C7405 gastric atrophy Wilson disease Cerebral pseudosclerosis (disorder) DOID:893 ICD10CM:E83.01 MSH:D006527 NCI:C84756 OMIM mapping confirmed by DO. [SN]. OMIM:277900 SNOMEDCT_US_2015_03_01:154751003 SNOMEDCT_US_2015_03_01:190823004 SNOMEDCT_US_2015_03_01:191710006 SNOMEDCT_US_2015_03_01:192640001 SNOMEDCT_US_2015_03_01:267504005 SNOMEDCT_US_2015_03_01:88518009 UMLS_CUI:C0019202 Westphal pseudosclerosis Westphal-Strumpell syndrome (disorder) Wilson's disease Wilson's disease (disorder) Wilson's disease * (disorder) disease_ontology hepatolenticular degeneration SNOMEDCT_2005_07_31:88518009 Wilson's disease (disorder) SNOMEDCT_2005_07_31:190823004 Westphal-Strumpell syndrome (disorder) SNOMEDCT_2005_07_31:267504005 Wilson's disease CSP2005:1849-4349 Westphal pseudosclerosis SNOMEDCT_2005_07_31:154751003 Wilson's disease Cerebral pseudosclerosis (disorder) SNOMEDCT_2005_07_31:192640001 MTHICD9_2006:275.1 Wilson's disease SNOMEDCT_2005_07_31:191710006 Wilson's disease * (disorder) retromolar area cancer DOID:8930 ICD10CM:C06.2 ICD9CM:145.6 SNOMEDCT_US_2015_03_01:363391009 SNOMEDCT_US_2015_03_01:93989001 UMLS_CUI:C0153379 disease_ontology malignant tumor of retromolar area (disorder) SNOMEDCT_2005_07_31:363391009 malignant tumor of retromolar area (disorder) Evans' syndrome (Thrombocytopenia: [primary] or [idopathic purpuric] or [idiopathic] or [purpuric]) or (Evan's syndrome) DOID:8931 Evans syndrome (disorder) ICD10CM:D69.41 ICD9CM:287.32 MSH:C536380 NCI:C61284 SNOMEDCT_US_2015_03_01:191315003 SNOMEDCT_US_2015_03_01:75331009 UMLS_CUI:C0272126 disease_ontology (Thrombocytopenia: [primary] or [idopathic purpuric] or [idiopathic] or [purpuric]) or (Evan's syndrome) SNOMEDCT_2005_07_31:191315003 Evans syndrome (disorder) SNOMEDCT_2005_07_31:75331009 herpes zoster iridocyclitis An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. DOID:8932 Herpes zoster iridocyclitis (disorder) disease_ontology true An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. url:http://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false Herpes zoster iridocyclitis (disorder) SNOMEDCT_2005_07_31:10698009 plantar fascial fibromatosis DOID:8936 Dupuytren's contracture of foot (disorder) ICD10CM:M72.2 ICD9CM:728.71 Ledderhose's disease MSH:C537000 NCI:C4680 Plantar fascial fibromatosis (disorder) SNOMEDCT_US_2015_03_01:13370002 SNOMEDCT_US_2015_03_01:202882003 SNOMEDCT_US_2015_03_01:240032001 UMLS_CUI:C0158360 disease_ontology Dupuytren's contracture of foot (disorder) SNOMEDCT_2005_07_31:240032001 Plantar fascial fibromatosis (disorder) SNOMEDCT_2005_07_31:13370002 Ledderhose's disease NCI2004_11_17:C4680 Waldeyer's ring cancer DOID:8937 ICD10CM:C14.2 ICD9CM:149.1 SNOMEDCT_US_2015_03_01:187716008 SNOMEDCT_US_2015_03_01:94144008 UMLS_CUI:C0153406 Waldeyer ring cancer disease_ontology malignant neoplasm of Waldeyer's ring malignant tumor of Waldeyer's ring (disorder) SNOMEDCT_2005_07_31:94144008 malignant neoplasm of Waldeyer's ring SNOMEDCT_2005_07_31:187716008 malignant tumor of Waldeyer's ring (disorder) reticulosarcoma involving intrathoracic lymph nodes DOID:8938 Reticulosarcoma of intrathoracic lymph nodes Reticulosarcoma of intrathoracic lymph nodes (disorder) disease_ontology true Reticulosarcoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188490002 Reticulosarcoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:95226002 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb DOID:8939 Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb disease_ontology true Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188568000 Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93514006 nervous system heredodegenerative disease DOID:894 disease_ontology true seborrheic infantile dermatitis A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. Complement 5 dysfunction Complement 5 dysfunction (disorder) Complement 5 dysfunction [Ambiguous] DOID:8823 DOID:8941 Generalized seborrheic dermatitis of infants (disorder) ICD10CM:L21.0 ICD9CM:690.11 Infantile seborrheic dermatitis (disorder) Infantile seborrheic dermatitis NOS (disorder) Infantile seborrhoeic dermatitis MSH:D063807 Pityriasis capitis (disorder) SNOMEDCT_US_2015_03_01:156327009 SNOMEDCT_US_2015_03_01:156329007 SNOMEDCT_US_2015_03_01:200763009 SNOMEDCT_US_2015_03_01:200764003 SNOMEDCT_US_2015_03_01:201177005 SNOMEDCT_US_2015_03_01:28431005 SNOMEDCT_US_2015_03_01:400201008 SNOMEDCT_US_2015_03_01:48596006 SNOMEDCT_US_2015_03_01:77592001 Seborrhea capitis (disorder) Seborrhea sicca Seborrheic dermatitis (& capitis) Seborrheic dermatitis of scalp Seborrheic dermatitis of scalp (disorder) Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp UMLS_CUI:C0221244 cradle cap disease_ontology seborrhea capitis A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. url:http://en.wikipedia.org/wiki/Cradle_cap url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm Infantile seborrheic dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200777007 SNOMEDCT_2005_07_31:48596006 Seborrhoeic eczema of scalp SNOMEDCT_2005_07_31:156329007 Seborrheic dermatitis of scalp (disorder) Complement 5 dysfunction [Ambiguous] SNOMEDCT_2005_07_31:200949008 SNOMEDCT_2005_07_31:28431005 Seborrhea capitis (disorder) SNOMEDCT_2005_07_31:77592001 Seborrhea sicca MTH:NOCODE Seborrheic dermatitis of scalp SNOMEDCT_2005_07_31:156327009 SNOMEDCT_2005_07_31:200763009 Seborrhoeic dermatitis of scalp Infantile seborrhoeic dermatitis SNOMEDCT_2005_07_31:156336008 SNOMEDCT_2005_07_31:200764003 Seborrheic dermatitis (& capitis) Complement 5 dysfunction (disorder) SNOMEDCT_2005_07_31:263661007 SNOMEDCT_2005_07_31:201177005 Seborrhoea capitis Generalized seborrheic dermatitis of infants (disorder) SNOMEDCT_2005_07_31:7297005 Pityriasis capitis (disorder) SNOMEDCT_2005_07_31:400201008 Infantile seborrheic dermatitis (disorder) SNOMEDCT_2005_07_31:200776003 Complement 5 dysfunction SNOMEDCT_2005_07_31:234610001 lattice corneal dystrophy DOID:8943 Lattice corneal dystrophy (disorder) Lattice corneal dystrophy [Ambiguous] MSH:C537935 disease_ontology familial amyloid neuropathy, Finnish type (disorder) Lattice corneal dystrophy (disorder) SNOMEDCT_2005_07_31:71041007 Lattice corneal dystrophy [Ambiguous] SNOMEDCT_2005_07_31:193835001 SNOMEDCT_2005_07_31:1192004 familial amyloid neuropathy, Finnish type (disorder) Lattice corneal dystrophy (disorder) SNOMEDCT_2005_07_31:361199007 severe nonproliferative diabetic retinopathy DOID:8946 High risk non proliferative diabetic retinopathy High risk non proliferative diabetic retinopathy (disorder) ICD9CM:362.06 SNOMEDCT_US_2015_03_01:312905005 SNOMEDCT_US_2015_03_01:390720006 SNOMEDCT_US_2015_03_01:391178000 Severe NPDR UMLS_CUI:C0730278 disease_ontology High risk non proliferative diabetic retinopathy (disorder) SNOMEDCT_2005_07_31:391178000 High risk non proliferative diabetic retinopathy SNOMEDCT_2005_07_31:390720006 SNOMEDCT_2005_07_31:312905005 Severe NPDR diabetic retinopathy DOID:8947 ICD9CM:362.0 MSH:D003930 NCI:C34538 Retinal abnormality - diabetes-related SNOMEDCT_US_2015_03_01:141196007 SNOMEDCT_US_2015_03_01:154678005 SNOMEDCT_US_2015_03_01:155107006 SNOMEDCT_US_2015_03_01:163997001 SNOMEDCT_US_2015_03_01:193353002 SNOMEDCT_US_2015_03_01:267471001 SNOMEDCT_US_2015_03_01:309595004 SNOMEDCT_US_2015_03_01:4855003 UMLS_CUI:C0011884 disease_ontology Retinal abnormality - diabetes-related SNOMEDCT_2005_07_31:163997001 copper metabolism disease Copper disorder DOID:895 disease_ontology disorder of copper metabolism disorder of copper metabolism (disorder) disorder of copper metabolism NOS (disorder) true Copper disorder SNOMEDCT_2005_07_31:267504005 SNOMEDCT_2005_07_31:79886009 disorder of copper metabolism (disorder) ICD9CM_2006:275.1 disorder of copper metabolism Copper disorder SNOMEDCT_2005_07_31:154751003 SNOMEDCT_2005_07_31:190854000 disorder of copper metabolism NOS (disorder) sideroblastic anemia ANEMIA SIDEROBLASTIC An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). Anemia, hypochromic with iron loading DOID:8955 ICD10CM:D64.3 ICD9CM:285.0 MSH:D000756 NCI:C36078 SNOMEDCT_US_2015_03_01:154810008 SNOMEDCT_US_2015_03_01:191263002 SNOMEDCT_US_2015_03_01:41841004 UMLS_CUI:C0002896 disease_ontology Anemia, hypochromic with iron loading MTHICD9_2006:285.0 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). url:http://en.wikipedia.org/wiki/Sideroblastic_anemia ANEMIA SIDEROBLASTIC MTH:NOCODE cowpox A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. DOID:8956 ICD10CM:B08.010 ICD9CM:051.01 MSH:D015605 SNOMEDCT_US_2015_03_01:154344005 SNOMEDCT_US_2015_03_01:266193008 SNOMEDCT_US_2015_03_01:70090004 UMLS_CUI:C0010232 disease_ontology yaba A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. url:http://emedicine.medscape.com/article/1131886-overview CSP2005:3100-0734 yaba lymphosarcoma involving lymph nodes of axilla and upper limb DOID:8958 disease_ontology true Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb DOID:8959 disease_ontology true metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. DOID:896 MSH:D008664 UMLS_CUI:C0025534 disease_ontology inborn metal metabolism disorder CSP2005:4000-0215 inborn metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism Measles virus keratoconjunctivitis A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. DOID:8962 disease_ontology true A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. url:http://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false Hodgkin's sarcoma involving spleen DOID:8964 Hodgkin's sarcoma of spleen Hodgkin's sarcoma of spleen (disorder) disease_ontology true Hodgkin's sarcoma of spleen (disorder) SNOMEDCT_2005_07_31:93554008 Hodgkin's sarcoma of spleen SNOMEDCT_2005_07_31:188550003 tonsillar fossa cancer DOID:8969 ICD10CM:C09.0 ICD9CM:146.1 SNOMEDCT_US_2015_03_01:187680001 SNOMEDCT_US_2015_03_01:363394001 SNOMEDCT_US_2015_03_01:94102002 UMLS_CUI:C0153384 disease_ontology malignant neoplasm of tonsillar fossa NOS (disorder) malignant tumor of tonsillar fossa malignant tumor of tonsillar fossa (disorder) SNOMEDCT_2005_07_31:363394001 malignant tumor of tonsillar fossa (disorder) SNOMEDCT_2005_07_31:187680001 malignant neoplasm of tonsillar fossa NOS (disorder) MTH:U001012 malignant tumor of tonsillar fossa subacute sclerosing panencephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). DOID:8970 ICD10CM:A81.1 ICD9CM:046.2 Immunosuppressive measles encephalitis MSH:D013344 NCI:C85171 OMIM:260470 SNOMEDCT_US_2015_03_01:186484007 SNOMEDCT_US_2015_03_01:192685000 SNOMEDCT_US_2015_03_01:359686005 SNOMEDCT_US_2015_03_01:416154000 SNOMEDCT_US_2015_03_01:84196008 Subacute Sclerosing Panencephalitis Subacute sclerosing panencephalitis (disorder) Subacute sclerosing panencephalitis (disorder) [Ambiguous] UMLS_CUI:C0038522 Van Bogaert's sclerosing leukoencephalitis Van Bogaert's sclerosing leukoencephalitis (disorder) disease_ontology subacute sclerosing leukoencephalopathy Immunosuppressive measles encephalitis SNOMEDCT_2005_07_31:416154000 CSP2005:2042-2360 subacute sclerosing leukoencephalopathy SNOMEDCT_2005_07_31:84196008 Subacute sclerosing panencephalitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:359686005 Van Bogaert's sclerosing leukoencephalitis (disorder) MTH:NOCODE Subacute Sclerosing Panencephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). url:http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis SNOMEDCT_2005_07_31:192685000 Subacute sclerosing panencephalitis (disorder) MTHICD9_2006:046.2 Van Bogaert's sclerosing leukoencephalitis Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites DOID:8973 Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites disease_ontology mixed cellularity Hodgkin's disease stage III true NCI2004_11_17:C3582 mixed cellularity Hodgkin's disease stage III Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) DOID:8974 disease_ontology true Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188513004 peripheral lymph node tuberculosis DOID:8976 Tuberculosis of peripheral lymph nodes (disorder) Tuberculosis of peripheral lymph nodes NOS (disorder) Tuberculosis of peripheral lymph nodes, unspecified examination disease_ontology true tuberculosis of peripheral lymph nodes ICD9CM_2006:017.20 Tuberculosis of peripheral lymph nodes, unspecified examination SNOMEDCT_2005_07_31:77038006 Tuberculosis of peripheral lymph nodes (disorder) SNOMEDCT_2005_07_31:186261003 Tuberculosis of peripheral lymph nodes NOS (disorder) malignant histiocytosis involving lymph nodes of head, face, and neck DOID:8977 disease_ontology malignant histiocytosis involving lymph nodes of head, face and neck malignant histiocytosis of lymph nodes of head, face and neck (disorder) malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) true SNOMEDCT_2005_07_31:93186009 malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:188640007 malignant histiocytosis of lymph nodes of head, face and neck (disorder) MTHICD9_2006:202.31 malignant histiocytosis involving lymph nodes of head, face and neck Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb DOID:8978 Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb disease_ontology true Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93516008 Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188569008 Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes DOID:8979 Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder) Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes disease_ontology true Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93485001 Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188591001 polycystic kidney disease An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. Congenital biliary ectasias DOID:898 ICD10CM:Q61.3 ICD9CM:753.12 MSH:D007690 NCI:C75464 OMIM:173900 OMIM:263200 OMIM:600666 OMIM:613095 ORDO:730 ORDO:731 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 SNOMEDCT_US_2015_03_01:156973002 SNOMEDCT_US_2015_03_01:204954005 SNOMEDCT_US_2015_03_01:204955006 SNOMEDCT_US_2015_03_01:204956007 SNOMEDCT_US_2015_03_01:268233005 SNOMEDCT_US_2015_03_01:268332003 UMLS_CUI:C0022680 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease. disease_ontology Congenital biliary ectasias SNOMEDCT_2005_07_31:111331000 An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. url:en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 url:kidney.niddk.nih.gov/kudiseases/pubs/polycystic Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen DOID:8980 Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder) Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) disease_ontology true Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) SNOMEDCT_2005_07_31:188561006 Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder) SNOMEDCT_2005_07_31:93500006 narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. DOID:8985 DOID:8986 EFO:0000614 ICD10CM:G47.41 ICD10CM:G47.419 ICD9CM:347.0 MSH:D009290 NCI:C84489 Narcolepsy, without cataplexy OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250 ORDO:2073 SNOMEDCT_US_2015_03_01:155059003 SNOMEDCT_US_2015_03_01:267702006 SNOMEDCT_US_2015_03_01:60380001 UMLS_CUI:C0027404 Xref MGI. disease_ontology paroxysmal sleep CSP2005:2056-7716 paroxysmal sleep A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. url:http://en.wikipedia.org/wiki/Narcolepsy choledochal cyst Congenital choledochal cyst Congenital choledochal cyst (disorder) DOID:899 ICD10CM:Q44.4 MSH:D015529 NCI:C2943 SNOMEDCT_US_2015_03_01:30533003 SNOMEDCT_US_2015_03_01:397868007 SNOMEDCT_US_2015_03_01:398197009 UMLS_CUI:C0008340 disease_ontology Congenital choledochal cyst (disorder) SNOMEDCT_2005_07_31:30533003 Congenital choledochal cyst (disorder) SNOMEDCT_2005_07_31:398197009 Congenital choledochal cyst MTHICD9_2006:751.69 Hodgkin's granuloma involving lymph nodes of multiple sites DOID:8990 Hodgkin's granuloma of lymph nodes of multiple sites (disorder) disease_ontology true Hodgkin's granuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93535008 Hodgkin's granuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188541000 cervix uteri carcinoma in situ CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ DOID:8991 ICD10CM:D06 ICD10CM:D06.9 ICD9CM:233.1 MSH:D018290 NCI:C4000 SNOMEDCT_US_2015_03_01:145597000 SNOMEDCT_US_2015_03_01:154637008 SNOMEDCT_US_2015_03_01:168405008 SNOMEDCT_US_2015_03_01:189339007 SNOMEDCT_US_2015_03_01:20365006 SNOMEDCT_US_2015_03_01:22725004 SNOMEDCT_US_2015_03_01:252990005 SNOMEDCT_US_2015_03_01:252991009 SNOMEDCT_US_2015_03_01:254889004 SNOMEDCT_US_2015_03_01:269491003 SNOMEDCT_US_2015_03_01:269649008 SNOMEDCT_US_2015_03_01:92564006 Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix UMLS_CUI:C0851140 carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma in situ of uterine cervix (disorder) carcinoma of cervix stage 0 (disorder) cervical intraepithelial neoplasia grade III with severe dysplasia (disorder) disease_ontology squamous intraepithelial neoplasia, grade III CIN III - severe dyskaryosis SNOMEDCT_2005_07_31:168405008 SNOMEDCT_2005_07_31:254889004 carcinoma of cervix stage 0 (disorder) SNOMEDCT_2005_07_31:252991009 cervical intraepithelial neoplasia grade III with severe dysplasia (disorder) SNOMEDCT_2005_07_31:269491003 carcinoma in situ of cervix MTH:NOCODE carcinoma in situ of uterine cervix SNOMEDCT_2005_07_31:92564006 carcinoma in situ of uterine cervix (disorder) CIN III - carcinoma in situ of cervix SNOMEDCT_2005_07_31:189339007 Cervix Ca in situ SNOMEDCT_2005_07_31:269649008 Cervix Ca in situ SNOMEDCT_2005_07_31:154637008 CIN III - severe dyskaryosis SNOMEDCT_2005_07_31:145597000 SNOMEDCT_2005_07_31:20365006 squamous intraepithelial neoplasia, grade III SNOMEDCT_2005_07_31:252990005 carcinoma in situ of cervix MTHICD9_2006:233.1 Severe dysplasia of cervix CIN III SNOMEDCT_2005_07_31:22725004 NCI2004_11_17:C4000 Severe Dysplasia of the Cervix Uteri Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb DOID:8992 Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93534007 Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188538009 Hodgkin's sarcoma involving lymph nodes of head, face, and neck DOID:8994 Hodgkin's sarcoma involving lymph nodes of head, face and neck Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder) Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) disease_ontology true Hodgkin's sarcoma involving lymph nodes of head, face and neck MTHICD9_2006:201.21 Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188544008 Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93551000 malignant histiocytosis involving intra-abdominal lymph nodes DOID:8995 disease_ontology true polycythemia vera DOID:8997 Erythremia (morphologic abnormality) ICD10CM:D45 ICD9CM:238.4 MSH:D011087 NCI:C3336 OMIM mapping confirmed by DO. [SN]. OMIM:263300 Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia SNOMEDCT_US_2015_03_01:109992005 SNOMEDCT_US_2015_03_01:128841001 SNOMEDCT_US_2015_03_01:134182002 SNOMEDCT_US_2015_03_01:154644004 SNOMEDCT_US_2015_03_01:269652000 SNOMEDCT_US_2015_03_01:278190000 SNOMEDCT_US_2015_03_01:31569001 UMLS_CUI:C0032463 disease_ontology Erythremia (morphologic abnormality) SNOMEDCT_2005_07_31:278190000 Osler-Vaquez syndrome SNOMEDCT_2005_07_31:109992005 Proliferative polycythaemia SNOMEDCT_2005_07_31:128841001 Polycythaemia rubra vera SNOMEDCT_2005_07_31:154644004 degenerative disc disease A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. DOID:7943 DOID:90 EFO:0004994 NCI:C27156 SNOMEDCT_US_2015_03_01:156633005 UMLS_CUI:C0410606 cervical disc degenerative disease disease_ontology intervertebral disc degeneration lumbar disc degeneration vertebral disc disease NCI2004_11_17:C27156 cervical disc degenerative disease A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. url:http://en.wikipedia.org/wiki/Degenerative_disc_disease url:http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx url:http://www.medicinenet.com/degenerative_disc/article.htm url:http://www.spine-health.com/conditions/degenerative-disc-disease/what-degenerative-disc-disease hepatopulmonary syndrome DOID:900 Hepatopulmonary syndrome (disorder) ICD10CM:K76.81 ICD9CM:573.5 MSH:D020065 SNOMEDCT_US_2015_03_01:371067004 UMLS_CUI:C0600452 disease_ontology Hepatopulmonary syndrome (disorder) SNOMEDCT_2005_07_31:371067004 Hodgkin's lymphoma, nodular sclerosis, involving spleen DOID:9001 Hodgkin's disease, nodular sclerosis of spleen Hodgkin's disease, nodular sclerosis of spleen (disorder) Hodgkin's disease, nodular sclerosis, involving spleen disease_ontology true Hodgkin's disease, nodular sclerosis of spleen SNOMEDCT_2005_07_31:188571008 Hodgkin's disease, nodular sclerosis of spleen (disorder) SNOMEDCT_2005_07_31:93518009 sudden infant death syndrome A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. Cot death Cot death (context-dependent category) Crib death (context-dependent category) DOID:9007 ICD9CM:798.0 MSH:D013398 NCI:C85173 OMIM:272120 SIDS SNOMEDCT_US_2015_03_01:158718001 SNOMEDCT_US_2015_03_01:207534005 SNOMEDCT_US_2015_03_01:207535006 SNOMEDCT_US_2015_03_01:207536007 SNOMEDCT_US_2015_03_01:207538008 SNOMEDCT_US_2015_03_01:207671002 SNOMEDCT_US_2015_03_01:51178009 Sudden death of nonspecific cause in infancy Sudden infant death syndrome (context-dependent category) Sudden infant death syndrome (finding) Sudden infant death syndrome NOS (context-dependent category) UMLS_CUI:C0038644 disease_ontology SNOMEDCT_2005_07_31:207538008 Sudden infant death syndrome NOS (context-dependent category) SNOMEDCT_2005_07_31:51178009 Sudden infant death syndrome (finding) A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. url:http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome url:http://omim.org/entry/272120 url:http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html Crib death (context-dependent category) SNOMEDCT_2005_07_31:207536007 Cot death (context-dependent category) SNOMEDCT_2005_07_31:207535006 MTHICD9_2006:798.0 Sudden death of nonspecific cause in infancy Cot death SNOMEDCT_2005_07_31:207671002 SNOMEDCT_2005_07_31:207534005 Sudden infant death syndrome (context-dependent category) Cot death SNOMEDCT_2005_07_31:158718001 CSP2005:0635-4620 SIDS psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. DOID:9008 EFO:0003778 ICD10CM:L40.5 ICD10CM:L40.50 ICD9CM:696.0 MSH:D015535 NCI:C61277 SNOMEDCT_US_2015_03_01:156370009 SNOMEDCT_US_2015_03_01:200959009 SNOMEDCT_US_2015_03_01:33339001 UMLS_CUI:C0003872 arthritis psoriatica arthropathic psoriasis disease_ontology psoriatic arthropathy A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. url:http://en.wikipedia.org/wiki/Psoriatic_arthropathy url:http://psoriasis.org/netcommunity/psoriatic_arthritis url:http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 url:http://www.medicinenet.com/psoriatic_arthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm liver lymphoma DOID:901 Lymphoma of Liver NCI:C4949 UMLS_CUI:C1112746 disease_ontology Lymphoma of Liver NCI2004_11_17:C4949 Burkitt's tumor or lymphoma involving lymph nodes of multiple sites Burkitt's lymphoma of lymph nodes of multiple sites (disorder) DOID:9010 disease_ontology true Burkitt's lymphoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188517003 larynx carcinoma in situ DOID:9011 ICD10CM:D02.0 ICD9CM:231.0 NCI:C9100 SNOMEDCT_US_2015_03_01:189261004 SNOMEDCT_US_2015_03_01:92634009 UMLS_CUI:C0154069 carcinoma in situ of larynx (disorder) carcinoma in situ of larynx NOS (disorder) disease_ontology stage 0 carcinoma of the Larynx SNOMEDCT_2005_07_31:189261004 carcinoma in situ of larynx NOS (disorder) SNOMEDCT_2005_07_31:92634009 carcinoma in situ of larynx (disorder) NCI2004_11_17:C9100 stage 0 carcinoma of the Larynx Sezary's disease involving lymph nodes of axilla and upper limb DOID:9017 Sezary's disease of lymph nodes of axilla and upper limb (disorder) Szary's disease of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true SNOMEDCT_2005_07_31:95259004 Szary's disease of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:188633006 Sezary's disease of lymph nodes of axilla and upper limb (disorder) Mycosis fungoides involving spleen DOID:9019 Mycosis fungoides of spleen Mycosis fungoides of spleen (disorder) disease_ontology true Mycosis fungoides of spleen (disorder) SNOMEDCT_2005_07_31:94714002 Mycosis fungoides of spleen SNOMEDCT_2005_07_31:188626006 malignant non-epithelial hepatic and intrahepatic bile duct neoplasm DOID:902 disease_ontology true reticulosarcoma involving spleen DOID:9020 Reticulosarcoma Involving Spleen Reticulosarcoma of spleen Reticulosarcoma of spleen (disorder) disease_ontology true Reticulosarcoma of spleen (disorder) SNOMEDCT_2005_07_31:95231000 NCI2004_11_17:C26959 Reticulosarcoma Involving Spleen Reticulosarcoma of spleen SNOMEDCT_2005_07_31:188495007 esophageal leukoplakia DOID:9021 ICD9CM:530.83 Leukoplakia of esophagus (disorder) NCI:C3953 SNOMEDCT_US_2015_03_01:89057003 UMLS_CUI:C0267095 disease_ontology esophageal Leukoplakia Leukoplakia of esophagus (disorder) SNOMEDCT_2005_07_31:89057003 NCI2004_11_17:C3953 esophageal Leukoplakia intestine carcinoma in situ DOID:9024 ICD10CM:D01.4 ICD9CM:230.7 SNOMEDCT_US_2015_03_01:190172008 UMLS_CUI:C0154065 carcinoma in situ of other and unspecified parts of intestine (disorder) disease_ontology SNOMEDCT_2005_07_31:190172008 carcinoma in situ of other and unspecified parts of intestine (disorder) Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes DOID:9025 Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder) Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes disease_ontology true Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93511003 Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188567005 gastrointestinal lymphoma DOID:903 NCI:C38162 SNOMEDCT_US_2015_03_01:449072004 UMLS_CUI:C0740372 disease_ontology Hodgkin's sarcoma involving lymph nodes of axilla and upper limb DOID:9033 Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder) Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology true Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93550004 Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188547001 parotid gland cancer A salivary gland cancer that is located_in the parotid gland. DOID:9036 ICD10CM:C07 ICD9CM:142.0 MSH:D010307 NCI:C3525 SNOMEDCT_US_2015_03_01:363379000 SNOMEDCT_US_2015_03_01:93949007 UMLS_CUI:C0747273 cancer of parotid gland disease_ontology malignant neoplasm of the Parotid malignant tumor of parotid gland (disorder) SNOMEDCT_2005_07_31:363379000 malignant tumor of parotid gland (disorder) NCI2004_11_17:C3525 malignant neoplasm of the Parotid SNOMEDCT_2005_07_31:93949007 cancer of parotid gland A salivary gland cancer that is located_in the parotid gland. url:http://en.wikipedia.org/wiki/Parotid_gland Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) DOID:9037 disease_ontology true Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188514005 Hodgkin's paragranuloma involving lymph nodes of head, face, and neck DOID:9039 Hodgkin's paragranuloma involving lymph nodes of head, face and neck Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder) Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) disease_ontology true Hodgkin's paragranuloma involving lymph nodes of head, face and neck MTHICD9_2006:201.01 Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93542008 Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) SNOMEDCT_2005_07_31:188523008 reticulosarcoma involving lymph nodes of head, face, and neck DOID:9040 Reticulosarcoma involving lymph nodes of head, face and neck Reticulosarcoma of lymph nodes of head, face and neck (disorder) Reticulosarcoma of lymph nodes of head, face, and neck (disorder) disease_ontology true Reticulosarcoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188489006 MTHICD9_2006:200.01 Reticulosarcoma involving lymph nodes of head, face and neck Reticulosarcoma of lymph nodes of head, face, and neck (disorder) SNOMEDCT_2005_07_31:95228001 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb DOID:9041 Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder) Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb disease_ontology true Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188578002 Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93505001 polyp of corpus uteri DOID:9042 ICD10CM:N84.0 ICD9CM:621.0 NCI:C3662 SNOMEDCT_US_2015_03_01:11314008 SNOMEDCT_US_2015_03_01:266659005 UMLS_CUI:C0156369 disease_ontology endometrial/uterine polyp NOS polyp of Endometrium polyp of corpus uteri (disorder) polyp of the Uterus polyp, uterus NOS polyp: [endometrial/uterine NOS] or [endometrial] MTHICD9_2006:621.0 polyp, uterus NOS SNOMEDCT_2005_07_31:11314008 polyp of corpus uteri (disorder) NCI2004_11_17:C3662 polyp of the Uterus SNOMEDCT_2005_07_31:266659005 endometrial/uterine polyp NOS NCI2004_11_17:C6433 polyp of Endometrium SNOMEDCT_2005_07_31:156005006 polyp: [endometrial/uterine NOS] or [endometrial] uterine cervix leukoplakia DOID:9043 ICD10CM:N88.0 ICD9CM:622.2 Leukoplakia of cervix (disorder) Leukoplakia of cervix (uteri) Leukoplakia of cervix uteri Leukoplakia of the uterine Cervix NCI:C3976 SNOMEDCT_US_2015_03_01:50923006 UMLS_CUI:C0269194 disease_ontology Leukoplakia of cervix uteri MTHICD9_2006:622.2 Leukoplakia of the uterine Cervix NCI2004_11_17:C3976 Leukoplakia of cervix (disorder) SNOMEDCT_2005_07_31:50923006 nodular lymphoma involving lymph nodes of multiple sites DOID:9046 disease_ontology nodular lymphoma of lymph nodes of multiple sites nodular lymphoma of lymph nodes of multiple sites (disorder) true SNOMEDCT_2005_07_31:95192000 nodular lymphoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188616004 nodular lymphoma of lymph nodes of multiple sites Zellweger syndrome A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. DOID:905 ICD10CM:E71.510 MSH:D015211 NCI:C85239 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. OMIM:214100 SNOMEDCT_US_2015_03_01:88469006 UMLS_CUI:C0043459 cerebrohepatorenal syndrome congenital iron overload disease_ontology peroxisome biogenesis disorder A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. url:http://en.wikipedia.org/wiki/Zellweger_Syndrome url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 CSP2005:1849-1804 congenital iron overload Herpes simplex virus meningitis A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. DOID:9051 Herpes simplex meningitis (disorder) Mollaret's meningitis disease_ontology true A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://en.wikipedia.org/wiki/Mollaret%27s_meningitis url:http://www.springerlink.com/content/u62658410432568k/fulltext.pdf Herpes simplex meningitis (disorder) SNOMEDCT_2005_07_31:23291008 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb DOID:9052 Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb disease_ontology true Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188589009 Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93487009 bladder carcinoma in situ DOID:9053 Flat CIS of the urinary bladder ICD10CM:D09.0 ICD9CM:233.7 NCI:C3644 SNOMEDCT_US_2015_03_01:269650008 SNOMEDCT_US_2015_03_01:92546004 UMLS_CUI:C0154091 bladder Ca in situ carcinoma in situ of bladder (disorder) disease_ontology SNOMEDCT_2005_07_31:269650008 bladder Ca in situ Flat CIS of the urinary bladder NCI2004_11_17:C3644 SNOMEDCT_2005_07_31:92546004 carcinoma in situ of bladder (disorder) lymphosarcoma involving intrathoracic lymph nodes DOID:9054 disease_ontology true Herpes simplex virus gingivostomatitis A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. DOID:9059 disease_ontology herpetic gingivostomatitis primary herpetic gingivostomatitis true SNOMEDCT_2005_07_31:57920007 primary herpetic gingivostomatitis A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/001052.htm peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction. DOID:906 ICD10CM:E71.5 ICD10CM:E71.50 ICD9CM:277.86 MSH:D018901 NCI:C85005 SNOMEDCT_US_2015_03_01:238059005 UMLS_CUI:C0282528 disease_ontology peroxisomal disorder ICD9CM_2006:277.86 peroxisomal disorder An inherited metabolic disorder that involves peroxisome malfunction. url:http://en.wikipedia.org/wiki/Peroxisomal_disorder pityriasis versicolor A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. DOID:9060 ICD10CM:B36.0 ICD9CM:111.0 Infection by Pityrosporum furfur MSH:D014010 NCI:C112833 NCI:C82981 Pityriasis versicolor (disorder) SNOMEDCT_US_2015_03_01:154395007 SNOMEDCT_US_2015_03_01:56454009 UMLS_CUI:C0040262 disease_ontology Pityriasis versicolor (disorder) SNOMEDCT_2005_07_31:56454009 A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/ Infection by Pityrosporum furfur MTHICD9_2006:111.0 alcohol induced sleep disorder DOID:9061 disease_ontology true Ritter's disease A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. DOID:9063 Dermatitis exfoliativa neonatorum ICD10CM:L00 ICD9CM:695.81 MSH:D013206 NCI:C85077 Pemphigus neonatorum Ritter disease SNOMEDCT_US_2015_03_01:200946001 SNOMEDCT_US_2015_03_01:367537006 SNOMEDCT_US_2015_03_01:87758007 Scalded skin syndrome Staphylococcal scalded skin syndrome (disorder) Toxic epidermal necrolysis, subcorneal type (disorder) UMLS_CUI:C0038165 disease_ontology SNOMEDCT_2005_07_31:200946001 Staphylococcal scalded skin syndrome (disorder) MTHICD9_2006:695.1 Scalded skin syndrome A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. url:http://en.wikipedia.org/wiki/Ritter%27s_disease url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin SNOMEDCT_2005_07_31:367537006 Toxic epidermal necrolysis, subcorneal type (disorder) Dermatitis exfoliativa neonatorum MTHICD9_2006:695.81 Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites DOID:9064 Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites disease_ontology true leishmaniasis A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). DOID:9065 DOID:9136 ICD10CM:B55 ICD10CM:B55.9 ICD9CM:085 ICD9CM:085.9 MSH:D007896 NCI:C34767 Post Kala-Azar Dermal Leishmaniasis Post-kala-azar dermal leishmaniasis (disorder) SNOMEDCT_US_2015_03_01:154377009 SNOMEDCT_US_2015_03_01:186811002 SNOMEDCT_US_2015_03_01:187511000 SNOMEDCT_US_2015_03_01:266206004 SNOMEDCT_US_2015_03_01:80612004 UMLS_CUI:C0023281 disease_ontology post-kala-azar dermal infectious disease by leishmaniasis A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). url:http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm Post-kala-azar dermal leishmaniasis (disorder) SNOMEDCT_2005_07_31:67896006 NCI2004_11_17:C34936 Post Kala-Azar Dermal Leishmaniasis Hodgkin's paragranuloma involving intrathoracic lymph nodes DOID:9067 Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) disease_ontology true Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93540000 Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188524002 liver fibroma DOID:907 Fibroma of the Liver NCI:C5752 UMLS_CUI:C1333965 disease_ontology Fibroma of the Liver NCI2004_11_17:C5752 pseudopolyposis of colon Colonic Inflammatory polyp DOID:9070 Pseudopolyposis of colon (disorder) disease_ontology true Pseudopolyposis of colon (disorder) SNOMEDCT_2005_07_31:13025001 Colonic Inflammatory polyp NCI2004_11_17:C5517 malignant histiocytosis involving spleen DOID:9071 disease_ontology malignant histiocytosis of spleen (disorder) true SNOMEDCT_2005_07_31:93189002 malignant histiocytosis of spleen (disorder) lethal midline granuloma DOID:9072 ICD10CM:M31.2 ICD9CM:446.3 Lethal midline granuloma (disorder) MSH:D006103 Midfacial Necrotising Lesion NCI:C8196 SNOMEDCT_US_2015_03_01:58961005 UMLS_CUI:C0018197 disease_ontology malignant granuloma of face MTHICD9_2006:446.3 malignant granuloma of face Midfacial Necrotising Lesion NCI2004_11_17:C8196 Lethal midline granuloma (disorder) SNOMEDCT_2005_07_31:58961005 systemic lupus erythematosus A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. DOID:9074 EFO:0002690 ICD10CM:M32 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 Lupus Erythematosus, systemic MSH:D008180 NCI:C3201 OMIM:152700 OMIM:300809 OMIM:601744 OMIM:605218 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:610927 OMIM:612251 OMIM:612253 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 ORDO:536 SLE - Lupus Erythematosus, systemic SNOMEDCT_US_2015_03_01:156450004 SNOMEDCT_US_2015_03_01:201435004 SNOMEDCT_US_2015_03_01:201439005 SNOMEDCT_US_2015_03_01:55464009 UMLS_CUI:C0024141 Xref MGI. disease_ontology disseminated lupus erythematosus Lupus Erythematosus, systemic MTH:U002054 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. ls:IEDB url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus NCI2004_11_17:C3201 SLE - Lupus Erythematosus, systemic CSP2005:0729-7721 disseminated lupus erythematosus discoid lupus erythematosus of eyelid DOID:9076 ICD10CM:H01.12 ICD9CM:373.34 SNOMEDCT_US_2015_03_01:79291003 UMLS_CUI:C0155180 discoid lupus erythematosus of eyelid (disorder) disease_ontology SNOMEDCT_2005_07_31:79291003 discoid lupus erythematosus of eyelid (disorder) Hodgkin's paragranuloma involving intrapelvic lymph nodes DOID:9078 Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) disease_ontology true Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188529007 Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93539002 Hodgkin's paragranuloma involving lymph nodes of multiple sites DOID:9079 Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) disease_ontology true Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93544009 Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188531003 macroglobulinemia DOID:9080 ICD10CM:C88.0 ICD9CM:273.3 MSH:D008258 NCI:C80307 SNOMEDCT_US_2015_03_01:109981009 SNOMEDCT_US_2015_03_01:154750002 SNOMEDCT_US_2015_03_01:190014001 SNOMEDCT_US_2015_03_01:190817009 SNOMEDCT_US_2015_03_01:190818004 SNOMEDCT_US_2015_03_01:190821002 SNOMEDCT_US_2015_03_01:267503004 SNOMEDCT_US_2015_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 disease_ontology primary macroglobulinemia MTHICD9_2006:273.3 primary macroglobulinemia mycosis fungoides involving intrathoracic lymph nodes DOID:9082 Mycosis fungoides of intrathoracic lymph nodes Mycosis fungoides of intrathoracic lymph nodes (disorder) disease_ontology true Mycosis fungoides of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:94709001 Mycosis fungoides of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188620000 Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes DOID:9084 Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder) Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes disease_ontology true Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93502003 Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188577007 anal carcinoma in situ DOID:9087 ICD9CM:230.6 SNOMEDCT_US_2015_03_01:189233005 SNOMEDCT_US_2015_03_01:20365006 SNOMEDCT_US_2015_03_01:401311008 SNOMEDCT_US_2015_03_01:92537005 UMLS_CUI:C0154064 anal carcinoma stage 0 anal intraepithelial neoplasia grade III anal intraepithelial neoplasia, grade III carcinoma in situ of anal canal carcinoma in situ of anal canal (disorder) carcinoma in situ of anus (disorder) carcinoma in situ of anus NOS (disorder) disease_ontology NCI2004_11_17:C7794 anal carcinoma stage 0 SNOMEDCT_2005_07_31:92537005 carcinoma in situ of anus (disorder) SNOMEDCT_2005_07_31:189233005 carcinoma in situ of anus NOS (disorder) SNOMEDCT_2005_07_31:92531006 carcinoma in situ of anal canal (disorder) SNOMEDCT_2005_07_31:20365006 anal intraepithelial neoplasia, grade III ICD9CM_2006:230.5 carcinoma in situ of anal canal SNOMEDCT_2005_07_31:401311008 anal intraepithelial neoplasia grade III parapsoriasis DOID:9088 ICD10CM:L41 ICD10CM:L41.9 ICD9CM:696.2 MSH:D010267 NCI:C3312 Parapsoriasis (disorder) Parapsoriasis NOS (disorder) Parapsoriasis unspecified (disorder) SNOMEDCT_US_2015_03_01:156371008 SNOMEDCT_US_2015_03_01:200979001 SNOMEDCT_US_2015_03_01:200980003 SNOMEDCT_US_2015_03_01:200991005 SNOMEDCT_US_2015_03_01:238592008 SNOMEDCT_US_2015_03_01:267851002 SNOMEDCT_US_2015_03_01:88233000 UMLS_CUI:C0030491 disease_ontology Parapsoriasis unspecified (disorder) SNOMEDCT_2005_07_31:200980003 Parapsoriasis (disorder) SNOMEDCT_2005_07_31:88233000 Parapsoriasis NOS (disorder) SNOMEDCT_2005_07_31:200991005 REM sleep behavior disorder A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. DOID:9091 ICD10CM:G47.52 ICD9CM:327.42 MSH:D020187 Rapid eye movement sleep behavior disorder SNOMEDCT_US_2015_03_01:415238003 UMLS_CUI:C0751772 disease_ontology A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. url:http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder Hodgkin's sarcoma involving intrathoracic lymph nodes DOID:9092 Hodgkin's sarcoma of intrathoracic lymph nodes Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) disease_ontology true Hodgkin's sarcoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188545009 Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93549004 Hodgkin's paragranuloma involving intra-abdominal lymph nodes DOID:9093 Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) disease_ontology true Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93538005 Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188526000 esophagus carcinoma in situ DOID:9095 ICD10CM:D00.1 ICD9CM:230.1 NCI:C89771 SNOMEDCT_US_2015_03_01:189217007 SNOMEDCT_US_2015_03_01:308860001 SNOMEDCT_US_2015_03_01:92585006 Severe esophageal dysplasia (disorder) UMLS_CUI:C0154059 carcinoma in situ of esophagus (disorder) carcinoma in situ of esophagus NOS (disorder) disease_ontology stage 0 carcinoma of the esophagus SNOMEDCT_2005_07_31:308860001 Severe esophageal dysplasia (disorder) NCI2004_11_17:C3637 stage 0 carcinoma of the esophagus SNOMEDCT_2005_07_31:189217007 carcinoma in situ of esophagus NOS (disorder) SNOMEDCT_2005_07_31:92585006 carcinoma in situ of esophagus (disorder) erythematosquamous dermatosis DOID:9097 DOID:9215 Erythematosquamous Dermatosis Erythematosquamous dermatosis (disorder) Erythematosquamous dermatosis NOS (disorder) ICD9CM:690 NCI:C34591 Other erythematosquamous dermatosis SNOMEDCT_US_2015_03_01:200762004 SNOMEDCT_US_2015_03_01:200768000 SNOMEDCT_US_2015_03_01:54792008 UMLS_CUI:C0014747 disease_ontology Erythematosquamous dermatosis (disorder) SNOMEDCT_2005_07_31:54792008 Erythematosquamous Dermatosis NCI2004_11_17:C34591 Erythematosquamous dermatosis NOS (disorder) SNOMEDCT_2005_07_31:200768000 sebaceous gland disease A skin disease that is located_in the sebaceous gland. DOID:9098 ICD10CM:L70.8 ICD9CM:706.1 SNOMEDCT_US_2015_03_01:201213005 SNOMEDCT_US_2015_03_01:201230007 SNOMEDCT_US_2015_03_01:201401002 UMLS_CUI:C0029485 disease_ontology A skin disease that is located_in the sebaceous gland. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance url:http://www.ncbi.nlm.nih.gov/pubmed/18837699 occipital lobe neoplasm DOID:909 DOID:910 ICD10CM:C71.4 ICD9CM:191.4 NCI:C5574 SNOMEDCT_US_2015_03_01:126957005 SNOMEDCT_US_2015_03_01:363470000 SNOMEDCT_US_2015_03_01:93928006 UMLS_CUI:C0153638 UMLS_CUI:C1263889 disease_ontology malignant neoplasm of occipital lobe malignant neoplasm of occipital lobe (disorder) neoplasm of occipital lobe (disorder) tumor of Occipital Lobe NCI2004_11_17:C5574 tumor of Occipital Lobe SNOMEDCT_2005_07_31:363470000 malignant neoplasm of occipital lobe (disorder) SNOMEDCT_2005_07_31:126957005 neoplasm of occipital lobe (disorder) carcinoma in situ of male genital organs DOID:9103 carcinoma in situ of other and unspecified male genital organs (disorder) disease_ontology true SNOMEDCT_2005_07_31:189348002 carcinoma in situ of other and unspecified male genital organs (disorder) mycosis fungoides involving intrapelvic lymph nodes DOID:9105 Mycosis fungoides of intrapelvic lymph nodes Mycosis fungoides of intrapelvic lymph nodes (disorder) disease_ontology true Mycosis fungoides of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:94708009 Mycosis fungoides of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188625005 uterus carcinoma in situ DOID:9108 ICD9CM:233.2 SNOMEDCT_US_2015_03_01:189342001 SNOMEDCT_US_2015_03_01:269492005 UMLS_CUI:C0154086 carcinoma in situ of other and unspecified parts of uterus (disorder) disease_ontology SNOMEDCT_2005_07_31:269492005 carcinoma in situ of other and unspecified parts of uterus (disorder) mycosis fungoides involving intra-abdominal lymph nodes DOID:9109 Mycosis fungoides of intra-abdominal lymph nodes Mycosis fungoides of intra-abdominal lymph nodes (disorder) disease_ontology true Mycosis fungoides of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188622008 Mycosis fungoides of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:94707004 cutaneous leishmaniasis A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. Asian Desert Cutaneous Leishmaniasis DOID:13553 DOID:9110 DOID:9111 DOID:9122 DOID:9167 ICD10CM:B55.1 Leproid leishmaniasis MSH:D016773 NCI:C34768 SNOMEDCT_US_2015_03_01:240637006 UMLS_CUI:C0023283 diffuse cutaneous leishmaniasis disease_ontology A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm Asian Desert Cutaneous Leishmaniasis NCI2004_11_17:C34770 Leproid leishmaniasis SNOMEDCT_2005_07_31:38573008 granuloma inguinale (Granuloma inguinale) or (donovanosis) or (pudendal ulcer) A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. DOID:9113 Granuloma Inguinale Granuloma inguinale (disorder) ICD10CM:A58 ICD9CM:099.2 MSH:D006100 NCI:C3065 Pudendal ulcer SNOMEDCT_US_2015_03_01:186947000 SNOMEDCT_US_2015_03_01:28867007 UMLS_CUI:C0018190 disease_ontology donovanosis Granuloma Inguinale NCI2004_11_17:C3065 (Granuloma inguinale) or (donovanosis) or (pudendal ulcer) SNOMEDCT_2005_07_31:186947000 Granuloma inguinale (disorder) SNOMEDCT_2005_07_31:28867007 CSP2005:0368-2705 Granuloma Inguinale A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. url:http://emedicine.medscape.com/article/1052617-overview url:http://en.wikipedia.org/wiki/Granuloma_inguinale MTHICD9_2006:099.2 Pudendal ulcer Varicella-zoster virus pneumonia A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. DOID:9114 Hemorrhagic varicella pneumonitis Varicella pneumonitis disease_ontology true MTHICD9_2006:052.1 Varicella pneumonitis A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. url:http://erj.ersjournals.com/content/21/5/886.full Hemorrhagic varicella pneumonitis MTH:NOCODE Rubella virus arthritis A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. DOID:9115 disease_ontology rubella arthritis true A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. url:http://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false Hodgkin's lymphoma, lymphocytic depletion, involving spleen DOID:9117 Hodgkin's disease, lymphocytic depletion of spleen Hodgkin's disease, lymphocytic depletion of spleen (disorder) Hodgkin's disease, lymphocytic depletion, involving spleen disease_ontology true Hodgkin's disease, lymphocytic depletion of spleen (disorder) SNOMEDCT_2005_07_31:188592008 Hodgkin's disease, lymphocytic depletion of spleen SNOMEDCT_2005_07_31:93491004 acute myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. AML - acute Myeloid Leukemia DOID:9118 DOID:9119 DOID:9171 ICD10CM:C92.0 ICD10CM:C92.00 ICD9CM:205.0 KEGG:05221 Leukemia, Myelocytic, acute MSH:D015470 NCI:C27753 NCI:C3171 OMIM mapping confirmed by DO. [SN]. OMIM:601626 OMIM:602439 SNOMEDCT_US_2015_03_01:154591002 SNOMEDCT_US_2015_03_01:17788007 SNOMEDCT_US_2015_03_01:277600006 SNOMEDCT_US_2015_03_01:413443009 SNOMEDCT_US_2015_03_01:91861009 UMLS_CUI:C0023467 acute myeloblastic leukemia acute myelogenous leukemia disease_ontology Leukemia, Myelocytic, acute MTH:NOCODE A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:http://www.cancer.gov/dictionary?cdrid=44363 AML - acute Myeloid Leukemia NCI2004_11_17:C3171 amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. DOID:9120 ICD10CM:E85 ICD10CM:E85.9 ICD9CM:277.3 ICD9CM:277.30 MSH:D000686 NCI:C2868 SNOMEDCT_US_2015_03_01:154769007 SNOMEDCT_US_2015_03_01:17602002 SNOMEDCT_US_2015_03_01:190931005 UMLS_CUI:C0002726 amyloid disease disease_ontology An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. url:http://en.wikipedia.org/wiki/Amyloidosis CSP2005:1849-1519 amyloid disease Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites DOID:9121 Hodgkin's disease, mixed cellularity, extranodal and solid organ sites disease_ontology true eczema herpeticum A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. DOID:4408 DOID:9081 DOID:9123 Eczema herpeticum (disorder) Eczema herpeticum (disorder) [Ambiguous] Herpes simplex dermatitis of eyelid (disorder) Herpes simplex eyelid dermatitis (disorder) Herpes simplex virus dermatitis ICD10CM:B00.0 ICD9CM:054.0 ICD9CM:054.41 MSH:D007617 NCI:C35620 SNOMEDCT_US_2015_03_01:186535001 SNOMEDCT_US_2015_03_01:186544000 SNOMEDCT_US_2015_03_01:38875006 SNOMEDCT_US_2015_03_01:52464003 UMLS_CUI:C0153037 UMLS_CUI:C0854331 UMLS_CUI:C0936250 disease_ontology herpes simplex dermatitis herpes simplex virus eyelid dermatitis A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. url:http://www.eczema.com/eczema-herpeticum/ Eczema herpeticum (disorder) SNOMEDCT_2005_07_31:186535001 Eczema herpeticum (disorder) [Ambiguous] SNOMEDCT_2005_07_31:52464003 Herpes simplex eyelid dermatitis (disorder) SNOMEDCT_2005_07_31:186544000 Herpes simplex dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:38875006 Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes DOID:9124 Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder) Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes disease_ontology true Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93484002 Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188587006 lower gum cancer DOID:9125 ICD10CM:C03.1 ICD9CM:143.1 SNOMEDCT_US_2015_03_01:363384006 SNOMEDCT_US_2015_03_01:93873003 UMLS_CUI:C0432581 disease_ontology malignant tumor of lower gingiva (disorder) malignant tumour of lower gum SNOMEDCT_2005_07_31:93873003 malignant tumour of lower gum SNOMEDCT_2005_07_31:363384006 malignant tumor of lower gingiva (disorder) atrophic muscular disease DOID:913 MSH:D020966 NCI:C84574 UMLS_CUI:C0752352 disease_ontology Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes DOID:9130 Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder) Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes disease_ontology true Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188570009 Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93512005 liver carcinoma in situ DOID:9132 ICD10CM:D01.5 ICD9CM:230.8 SNOMEDCT_US_2015_03_01:189241005 SNOMEDCT_US_2015_03_01:189247009 SNOMEDCT_US_2015_03_01:271525004 UMLS_CUI:C0496854 carcinoma in situ of biliary system (& [and liver]) carcinoma in situ of liver and biliary system (disorder) carcinoma in situ of liver or biliary system NOS (disorder) carcinoma in situ of liver, gallbladder and bile ducts disease_ontology SNOMEDCT_2005_07_31:189247009 carcinoma in situ of liver or biliary system NOS (disorder) SNOMEDCT_2005_07_31:271525004 carcinoma in situ of liver and biliary system (disorder) SNOMEDCT_2005_07_31:189241005 carcinoma in situ of biliary system (& [and liver]) MTH:U001402 carcinoma in situ of liver, gallbladder and bile ducts stomach carcinoma in situ DOID:9138 ICD10CM:D00.2 ICD9CM:230.2 NCI:C7788 SNOMEDCT_US_2015_03_01:189223002 SNOMEDCT_US_2015_03_01:92756002 UMLS_CUI:C0154060 carcinoma in situ of stomach (disorder) carcinoma in situ of stomach NOS (disorder) disease_ontology gastric carcinoma in situ SNOMEDCT_2005_07_31:92756002 carcinoma in situ of stomach (disorder) NCI2004_11_17:C7788 gastric carcinoma in situ SNOMEDCT_2005_07_31:189223002 carcinoma in situ of stomach NOS (disorder) peliosis hepatis DOID:914 ICD10CM:K76.4 MSH:D010382 SNOMEDCT_US_2015_03_01:197366003 SNOMEDCT_US_2015_03_01:240625009 SNOMEDCT_US_2015_03_01:58008004 UMLS_CUI:C0030781 disease_ontology hepatic peliosis (disorder) SNOMEDCT_2005_07_31:240625009 hepatic peliosis (disorder) xeroderma of eyelid DOID:9140 ICD10CM:H01.14 ICD9CM:373.33 SNOMEDCT_US_2015_03_01:55846006 UMLS_CUI:C0155179 Xeroderma of eyelid (disorder) disease_ontology SNOMEDCT_2005_07_31:55846006 Xeroderma of eyelid (disorder) Herpes simplex virus meningoencephalitis A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. DOID:9141 Herpetic meningoencephalitis (disorder) disease_ontology true Herpetic meningoencephalitis (disorder) SNOMEDCT_2005_07_31:9678009 A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites DOID:9142 Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites disease_ontology stage III Hodgkin's Lymphoma Lymphocyte Depletion type true Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188593003 Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93490003 NCI2004_11_17:C3583 stage III Hodgkin's Lymphoma Lymphocyte Depletion type Burkitt's tumor or lymphoma involving spleen Burkitt's lymphoma of spleen (disorder) Burkitt's tumor of spleen (disorder) DOID:9143 Splenic Burkitt's Lymphoma disease_ontology true NCI2004_11_17:C7309 Splenic Burkitt's Lymphoma Burkitt's lymphoma of spleen (disorder) SNOMEDCT_2005_07_31:188516007 Burkitt's tumor of spleen (disorder) SNOMEDCT_2005_07_31:92515003 visceral leishmaniasis A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. DOID:9146 ICD10CM:B55.0 ICD9CM:085.0 Infection by visceral leishmaniasis Kala-Azar MSH:D007898 NCI:C34771 OMIM:608207 OMIM:611381 OMIM:611382 ORDO:507 SNOMEDCT_US_2015_03_01:186803007 SNOMEDCT_US_2015_03_01:48115004 UMLS_CUI:C0023290 Xref MGI. disease_ontology A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. url:http://en.wikipedia.org/wiki/Visceral_leishmaniasis url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm Kala-Azar NCI2004_11_17:C34771 Infection by visceral leishmaniasis MTHICD9_2006:085.0 hard palate cancer DOID:9149 Hard Palate ICD10CM:C05.0 ICD9CM:145.2 NCI:C3528 SNOMEDCT_US_2015_03_01:363387004 SNOMEDCT_US_2015_03_01:93822006 UMLS_CUI:C0153375 disease_ontology malignant neoplasm of hard palate malignant tumor of hard palate (disorder) malignant tumor of the Hard Palate malignant tumour of hard palate SNOMEDCT_2005_07_31:93822006 malignant tumour of hard palate MTH:U001235 malignant neoplasm of hard palate NCI2004_11_17:C3528 malignant tumor of the Hard Palate SNOMEDCT_2005_07_31:363387004 malignant tumor of hard palate (disorder) Hard Palate NCI2004_11_17:C12230 Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes DOID:9150 Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder) Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes disease_ontology true Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93503008 Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188580008 variola minor A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. Alastrim (disorder) DOID:9153 ICD9CM:050.1 MSH:D012899 NCI:C34365 SNOMEDCT_US_2015_03_01:72294005 UMLS_CUI:C0001906 Variola minor cottonpox disease_ontology milkpox whitepox MTHICD9_2006:050.1 Variola minor Alastrim (disorder) SNOMEDCT_2005_07_31:72294005 A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:http://emedicine.medscape.com/article/830328-overview mucocutaneous leishmaniasis A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. American Cutaneous Leishmaniasis American cutaneous leishmaniasis American mucocutaneous leishmaniasis American mucocutaneous leishmaniasis (disorder) Cutaneous leishmaniasis, American DOID:9155 ICD10CM:B55.2 ICD9CM:085.5 MSH:D007897 Mucocutaneous leishmaniasis, (American) Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis SNOMEDCT_US_2015_03_01:186810001 SNOMEDCT_US_2015_03_01:39625001 SNOMEDCT_US_2015_03_01:403135004 UMLS_CUI:C1328252 disease_ontology American cutaneous leishmaniasis SNOMEDCT_2005_07_31:186809006 ICD9CM_2006:085.5 Mucocutaneous leishmaniasis, (American) MTHICD9_2006:085.5 Mucocutaneous leishmaniasis, American Cutaneous leishmaniasis, American ICD9CM_2006:085.4 A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. url:http://www.bmj.com/cgi/content/full/329/7470/842 New World cutaneous leishmaniasis SNOMEDCT_2005_07_31:266122008 New World cutaneous leishmaniasis SNOMEDCT_2005_07_31:77327004 American Cutaneous Leishmaniasis NCI2004_11_17:C34769 American mucocutaneous leishmaniasis SNOMEDCT_2005_07_31:186810001 American mucocutaneous leishmaniasis (disorder) SNOMEDCT_2005_07_31:403135004 American mucocutaneous leishmaniasis SNOMEDCT_2005_07_31:39625001 Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes DOID:9157 Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder) Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes disease_ontology true Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188566001 Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93513000 Sezary's disease involving intra-abdominal lymph nodes DOID:9158 Sezary's disease of intra-abdominal lymph nodes (disorder) Szary's disease of intra-abdominal lymph nodes (disorder) disease_ontology true SNOMEDCT_2005_07_31:95256006 Szary's disease of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188632001 Sezary's disease of intra-abdominal lymph nodes (disorder) gas gangrene (Gas gangrene) or (Clostridium infection) A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. DOID:9159 Gas bacillus infection Gas bacillus infection or gangrene Gas gangrene (disorder) ICD10CM:A48.0 ICD9CM:040.0 MSH:D005738 Myonecrosis SNOMEDCT_US_2015_03_01:186407003 SNOMEDCT_US_2015_03_01:186413007 SNOMEDCT_US_2015_03_01:276198000 SNOMEDCT_US_2015_03_01:80466000 UMLS_CUI:C0017105 disease_ontology Gas bacillus infection SNOMEDCT_2005_07_31:276198000 Gas bacillus infection or gangrene MTHICD9_2006:040.0 A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. url:http://en.wikipedia.org/wiki/Gas_gangrene url:http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157 Gas gangrene (disorder) SNOMEDCT_2005_07_31:80466000 (Gas gangrene) or (Clostridium infection) SNOMEDCT_2005_07_31:186407003 liver neoplasm DOID:692 DOID:916 NCI:C7103 NCI:C7106 UMLS_CUI:C1333419 UMLS_CUI:C1333976 disease_ontology epithelial hepatic and intrahepatic bile duct neoplasm Sezary's disease involving intrapelvic lymph nodes DOID:9161 Sezary's disease of intrapelvic lymph nodes (disorder) Szary's disease of intrapelvic lymph nodes (disorder) disease_ontology true SNOMEDCT_2005_07_31:188635004 Sezary's disease of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:95257002 Szary's disease of intrapelvic lymph nodes (disorder) achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. DOID:9164 ICD10CM:K22.0 ICD9CM:530.0 Lack of reflex relaxation of lower oesophageal sphincter MSH:D004931 NCI:C84699 OMIM:200400 SNOMEDCT_US_2015_03_01:155672003 SNOMEDCT_US_2015_03_01:17460002 SNOMEDCT_US_2015_03_01:45564002 UMLS_CUI:C0014848 achalasia of cardia achalasia of esophagus (disorder) cardiospasm disease_ontology esophageal achalasia hypertensive lower esophageal sphincter (disorder) MTH:NOCODE esophageal achalasia SNOMEDCT_2005_07_31:155672003 achalasia of cardia Lack of reflex relaxation of lower oesophageal sphincter SNOMEDCT_2005_07_31:17460002 SNOMEDCT_2005_07_31:45564002 achalasia of esophagus (disorder) CSP2005:1248-5473 cardiospasm MTHICD9_2006:530.0 achalasia of cardia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. url:http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm SNOMEDCT_2005_07_31:235630008 hypertensive lower esophageal sphincter (disorder) neurotic excoriation DOID:9165 Dermatitis artefacta Dermatitis factitia (disorder) Dermatitis factitia [artefacta] Dermatitis ficta Factitious skin disease (disorder) ICD10CM:L98.1 ICD9CM:698.4 SNOMEDCT_US_2015_03_01:156384004 SNOMEDCT_US_2015_03_01:27720003 SNOMEDCT_US_2015_03_01:402736003 UMLS_CUI:C1274184 disease_ontology Dermatitis factitia [artefacta] ICD9CM_2006:698.4 Dermatitis factitia (disorder) SNOMEDCT_2005_07_31:27720003 Factitious skin disease (disorder) SNOMEDCT_2005_07_31:402736003 Dermatitis artefacta SNOMEDCT_2005_07_31:156384004 Dermatitis ficta MTHICD9_2006:698.4 Wiskott-Aldrich syndrome DOID:9169 ICD10CM:D82.0 ICD9CM:279.12 MSH:D014923 NCI:C3448 OMIM mapping confirmed by DO. [SN]. OMIM:277970 OMIM:301000 SNOMEDCT_US_2015_03_01:36070007 UMLS_CUI:C0043194 Wiskott syndrome disease_ontology CSP2005:1849-0285 Wiskott syndrome liver leiomyoma DOID:917 NCI:C5753 UMLS_CUI:C1333968 disease_ontology leiomyoma of the Liver NCI2004_11_17:C5753 leiomyoma of the Liver submandibular gland cancer DOID:9173 ICD10CM:C08.0 ICD9CM:142.1 NCI:C3526 SNOMEDCT_US_2015_03_01:363380002 SNOMEDCT_US_2015_03_01:94077005 UMLS_CUI:C0153360 disease_ontology malignant neoplasm of submaxillary gland malignant tumor of submandibular gland (disorder) malignant tumor of the Submandibular gland NCI2004_11_17:C3526 malignant tumor of the Submandibular gland SNOMEDCT_2005_07_31:94077005 malignant neoplasm of submaxillary gland SNOMEDCT_2005_07_31:363380002 malignant tumor of submandibular gland (disorder) MTHICD9_2006:142.1 malignant neoplasm of submaxillary gland rectum carcinoma in situ DOID:9174 ICD10CM:D01.2 ICD9CM:230.4 NCI:C4853 SNOMEDCT_US_2015_03_01:308879003 SNOMEDCT_US_2015_03_01:92696009 Severe Rectal Dysplasia Severe dysplasia of rectum (disorder) UMLS_CUI:C0154062 carcinoma in situ of rectum (disorder) disease_ontology NCI2004_11_17:C4853 Severe Rectal Dysplasia SNOMEDCT_2005_07_31:308879003 Severe dysplasia of rectum (disorder) SNOMEDCT_2005_07_31:92696009 carcinoma in situ of rectum (disorder) liver inflammatory pseudotumor DOID:918 Inflammatory Pseudotumor of the Liver NCI:C5858 UMLS_CUI:C1333967 disease_ontology Inflammatory Pseudotumor of the Liver NCI2004_11_17:C5858 amebic colitis Amebic nondysenteric colitis (disorder) An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. DOID:9180 amoebic colitis disease_ontology true Amebic nondysenteric colitis (disorder) SNOMEDCT_2005_07_31:55023005 An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. url:http://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh amebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. DOID:11901 DOID:11904 DOID:9181 ICD10CM:A06 ICD10CM:A06.9 ICD9CM:006 ICD9CM:006.9 MSH:D000562 NCI:C84551 SNOMEDCT_US_2015_03_01:105637008 SNOMEDCT_US_2015_03_01:111909004 SNOMEDCT_US_2015_03_01:111910009 SNOMEDCT_US_2015_03_01:154274000 SNOMEDCT_US_2015_03_01:186122001 SNOMEDCT_US_2015_03_01:187278004 SNOMEDCT_US_2015_03_01:282008000 SNOMEDCT_US_2015_03_01:387754006 SNOMEDCT_US_2015_03_01:388759003 UMLS_CUI:C0002438 amoebiasis chronic intestinal amebiasis disease_ontology entamoebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. url:http://en.wikipedia.org/wiki/Amoebiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm pemphigus DOID:9182 ICD10CM:L10 ICD10CM:L10.9 ICD9CM:694.4 MSH:D010392 NCI:C34909 SNOMEDCT_US_2015_03_01:156355008 SNOMEDCT_US_2015_03_01:200908008 SNOMEDCT_US_2015_03_01:65172003 UMLS_CUI:C0030807 disease_ontology sleep arousal disorder DOID:9184 disease_ontology true Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb DOID:9186 Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology true Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188528004 Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93543003 vestibule of mouth cancer DOID:9188 ICD10CM:C06.1 ICD9CM:145.1 SNOMEDCT_US_2015_03_01:187658004 SNOMEDCT_US_2015_03_01:187664006 SNOMEDCT_US_2015_03_01:94138009 UMLS_CUI:C0153374 disease_ontology malignant neoplasm of vestibule of mouth NOS (disorder) malignant tumor of vestibule of mouth malignant tumor of vestibule of mouth (disorder) SNOMEDCT_2005_07_31:187658004 malignant tumor of vestibule of mouth (disorder) SNOMEDCT_2005_07_31:187664006 malignant neoplasm of vestibule of mouth NOS (disorder) MTH:U001025 malignant tumor of vestibule of mouth generalized hyperhidrosis DOID:9189 Generalized hyperhidrosis (context-dependent category) Generalized hyperhidrosis (disorder) disease_ontology true Generalized hyperhidrosis (context-dependent category) SNOMEDCT_2005_07_31:206778009 Generalized hyperhidrosis (disorder) SNOMEDCT_2005_07_31:274673004 diabetic macular edema DOID:9191 Diabetic macular edema (disorder) ICD9CM:362.07 SNOMEDCT_US_2015_03_01:312912001 UMLS_CUI:C0730285 disease_ontology Diabetic macular edema (disorder) SNOMEDCT_2005_07_31:312912001 dyskinesia of esophagus DOID:9192 Dyskinesia of oesophagus ICD10CM:K22.4 ICD9CM:530.5 MSH:D015154 Oesophageal dysmotility Oesophageal motor disorder SNOMEDCT_US_2015_03_01:196614005 SNOMEDCT_US_2015_03_01:266434009 SNOMEDCT_US_2015_03_01:40846004 SNOMEDCT_US_2015_03_01:61100004 SNOMEDCT_US_2015_03_01:79962008 UMLS_CUI:C0014858 disease_ontology esophageal dysmotility (disorder) esophageal motility disorder Dyskinesia of oesophagus SNOMEDCT_2005_07_31:196614005 SNOMEDCT_2005_07_31:266434009 esophageal dysmotility (disorder) Dyskinesia of oesophagus SNOMEDCT_2005_07_31:61100004 Oesophageal dysmotility SNOMEDCT_2005_07_31:79962008 Oesophageal motor disorder SNOMEDCT_2005_07_31:40846004 MTH:NOCODE esophageal motility disorder Herpes simplex virus keratitis A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. DOID:8565 DOID:8624 DOID:9023 DOID:9195 Dendritic Keratitis disease_ontology herpes simplex disciform keratitis ocular herpes simplex true Dendritic Keratitis NCI2004_11_17:C34743 A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. url:http://emedicine.medscape.com/article/1194268-overview Sezary's disease involving intrathoracic lymph nodes DOID:9198 Sezary's disease of intrathoracic lymph nodes (disorder) Szary's disease of intrathoracic lymph nodes (disorder) disease_ontology true SNOMEDCT_2005_07_31:95258007 Szary's disease of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188631008 Sezary's disease of intrathoracic lymph nodes (disorder) cataplexy and narcolepsy DOID:9199 disease_ontology true speech disorder A communication disorder that involves difficulty with the act of speech production. DOID:92 MSH:D013064 NCI:C5041 UMLS_CUI:C0037822 disease_ontology A communication disorder that involves difficulty with the act of speech production. url:http://en.wikipedia.org/wiki/Speech_disorders childhood liver neoplasm DOID:920 disease_ontology true lichen planus A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known. DOID:9201 ICD10CM:L43 ICD10CM:L43.9 ICD9CM:697.0 Lichen Planus Lichen planus (disorder) Lichen planus NOS (disorder) Lichen, ruber planus MSH:D008010 NCI:C3189 SNOMEDCT_US_2015_03_01:156377007 SNOMEDCT_US_2015_03_01:201004002 SNOMEDCT_US_2015_03_01:4776004 UMLS_CUI:C0023646 disease_ontology lichen ruber planus Lichen planus (disorder) SNOMEDCT_2005_07_31:4776004 Lichen Planus NCI2004_11_17:C3189 A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known. url:http://en.wikipedia.org/wiki/Lichen_planus Lichen, ruber planus MTHICD9_2006:697.0 CSP2005:2716-6962 lichen ruber planus Lichen planus NOS (disorder) SNOMEDCT_2005_07_31:201004002 disorder of optic chiasm associated with pituitary neoplasm and disorder DOID:9202 disease_ontology true Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) DOID:9203 disease_ontology true Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188512009 Barrett's esophagus (ulcerative esophagitis) or (Barrett's esophagus) Barrett esophagus Barrett's esophagus (disorder) Barrett's esophagus (disorder) [Ambiguous] Barrett's esophagus with esophagitis (disorder) Barrett's oesophagus Barrett's ulcer of esophagus (disorder) Barretts syndrome CLE DOID:9206 EFO:0000280 ICD10CM:K22.7 ICD10CM:K22.70 ICD9CM:530.85 MSH:D001471 NCI:C2891 SNOMEDCT_US_2015_03_01:155679007 SNOMEDCT_US_2015_03_01:196603007 SNOMEDCT_US_2015_03_01:196609006 SNOMEDCT_US_2015_03_01:235597001 SNOMEDCT_US_2015_03_01:302914006 SNOMEDCT_US_2015_03_01:76355008 UMLS_CUI:C0004763 disease_ontology Barrett esophagus MTH:NOCODE CLE NCI2004_11_17:C2891 Barrett's esophagus with esophagitis (disorder) SNOMEDCT_2005_07_31:235597001 Barrett's oesophagus SNOMEDCT_2005_07_31:155679007 Barrett's ulcer of esophagus (disorder) SNOMEDCT_2005_07_31:196609006 Barrett's esophagus (disorder) SNOMEDCT_2005_07_31:302914006 Barrett's esophagus (disorder) [Ambiguous] SNOMEDCT_2005_07_31:76355008 Barretts syndrome CSP2005:5000-0039 (ulcerative esophagitis) or (Barrett's esophagus) SNOMEDCT_2005_07_31:196603007 periodic limb movement disorder A sleep disorder that involves involuntary limb movement during sleep. DOID:9207 ICD10CM:G47.61 ICD9CM:327.51 MSH:D020189 SNOMEDCT_US_2015_03_01:418763003 UMLS_CUI:C0751774 disease_ontology nocturnal myoclonus A sleep disorder that involves involuntary limb movement during sleep. url:http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder geniculate herpes zoster (Geniculate herpes zoster) or (Ramsey Hunt syndrome) A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. DOID:9210 Herpes Zoster Oticus Herpes zoster auricularis (disorder) Herpetic geniculate ganglionitis ICD10CM:B02.21 ICD9CM:053.11 MSH:D016697 NCI:C84763 Ramsay Hunt syndrome type 2 Ramsay Hunt syndrome type II SNOMEDCT_US_2015_03_01:154330004 SNOMEDCT_US_2015_03_01:186518000 SNOMEDCT_US_2015_03_01:186529001 SNOMEDCT_US_2015_03_01:21954000 UMLS_CUI:C0017409 disease_ontology geniculate neuralgia nervus intermedius neuralgia Herpes Zoster Oticus MTH:NOCODE (Geniculate herpes zoster) or (Ramsey Hunt syndrome) SNOMEDCT_2005_07_31:186518000 Herpetic geniculate ganglionitis MTHICD9_2006:053.11 Herpes zoster auricularis (disorder) SNOMEDCT_2005_07_31:21954000 A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. url:http://emedicine.medscape.com/article/1166804-overview url:http://www.ramsayhunt.org/what.shtml pityriasis rubra pilaris DOID:9212 Devergie's disease ICD10CM:L44.0 ICD9CM:696.4 MSH:D010916 NCI:C85014 OMIM mapping confirmed by DO. [SN]. OMIM:173200 Pityriasis rubra pilaris (disorder) SNOMEDCT_US_2015_03_01:3755001 UMLS_CUI:C0032027 disease_ontology Pityriasis rubra pilaris (disorder) SNOMEDCT_2005_07_31:3755001 Devergie's disease MTHICD9_2006:696.4 Herpes simplex virus iridocyclitis A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. DOID:9214 Herpes simplex iridocyclitis (disorder) disease_ontology true Herpes simplex iridocyclitis (disorder) SNOMEDCT_2005_07_31:13608004 A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. url:http://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg url:http://en.wikipedia.org/wiki/Iridocyclitis Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck DOID:9216 Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck disease_ontology true Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188585003 Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93488004 Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck MTHICD9_2006:201.71 herpes zoster eyelid dermatitis A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. DOID:9217 Herpes Zoster Dermatitis of eyelid Herpes zoster dermatitis of eyelids (disorder) Herpes zoster with dermatitis of eyelid (disorder) disease_ontology true A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. url:http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain Herpes Zoster Dermatitis of eyelid NCI2004_11_17:C34696 Herpes zoster dermatitis of eyelids (disorder) SNOMEDCT_2005_07_31:67337008 Herpes zoster with dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:186525007 central sleep apnea A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. DOID:9220 ICD10CM:G47.31 ICD9CM:327.21 MSH:D020182 OMIM:107640 OMIM:207720 SNOMEDCT_US_2015_03_01:9741000119101 UMLS_CUI:C0751762 Xref MGI. central sleep apnea syndrome disease_ontology primary central sleep apnea A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. url:http://en.wikipedia.org/wiki/Central_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ lymphosarcoma involving lymph nodes of inguinal region and lower limb DOID:9222 disease_ontology true vulva herpetic infectious disease A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions. DOID:9224 Herpetic ulceration of vulva (disorder) disease_ontology true Herpetic ulceration of vulva (disorder) SNOMEDCT_2005_07_31:59819007 A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions. url:http://www.merck.com/mmhe/sec17/ch198/ch198e.html Hodgkin's sarcoma involving intrapelvic lymph nodes DOID:9225 disease_ontology true Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck DOID:9227 Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck disease_ontology true Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93506000 Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck MTHICD9_2006:201.61 Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188575004 congenital rubella A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. Congenital Rubella Congenital Rubella syndrome Congenital rubella syndrome DOID:9228 Gestational rubella syndrome (disorder) disease_ontology true Gestational rubella syndrome (disorder) SNOMEDCT_2005_07_31:1857005 A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. url:http://en.wikipedia.org/wiki/Congenital_rubella Congenital Rubella NCI2004_11_17:C34992 Congenital Rubella syndrome MTH:NOCODE Congenital rubella syndrome SNOMEDCT_2005_07_31:157117002 dyshidrosis Cheiropompholyx DOID:9230 DYSHYDROSIS DYSHYDROTIC ECZEMA Dyshidrosis (disorder) Dyshidrosis NOS (disorder) Dyshidrosis unspecified (disorder) ICD9CM:705.81 MSH:D011146 Pompholyx Pompholyx unspecified (disorder) SNOMEDCT_US_2015_03_01:156416008 SNOMEDCT_US_2015_03_01:156417004 SNOMEDCT_US_2015_03_01:201198005 SNOMEDCT_US_2015_03_01:201199002 SNOMEDCT_US_2015_03_01:201200004 SNOMEDCT_US_2015_03_01:201202007 SNOMEDCT_US_2015_03_01:25560004 SNOMEDCT_US_2015_03_01:267865000 SNOMEDCT_US_2015_03_01:267866004 SNOMEDCT_US_2015_03_01:274946003 SNOMEDCT_US_2015_03_01:402567004 UMLS_CUI:C0032633 Vesicular eczema of hands and/or feet Vesicular eczema of hands and/or feet (disorder) disease_ontology pompholyx Cheiropompholyx MTHICD9_2006:705.81 DYSHYDROSIS MTH:260 Pompholyx unspecified (disorder) SNOMEDCT_2005_07_31:201200004 Dyshidrosis NOS (disorder) SNOMEDCT_2005_07_31:201202007 SNOMEDCT_2005_07_31:402567004 Vesicular eczema of hands and/or feet (disorder) Pompholyx SNOMEDCT_2005_07_31:274946003 Dyshidrosis (disorder) SNOMEDCT_2005_07_31:25560004 Pompholyx SNOMEDCT_2005_07_31:267865000 Dyshidrosis unspecified (disorder) SNOMEDCT_2005_07_31:201199002 Pompholyx SNOMEDCT_2005_07_31:156416008 MTH:NOCODE Vesicular eczema of hands and/or feet CSP2005:2716-5992 pompholyx DYSHYDROTIC ECZEMA MTH:261 kidney carcinoma in situ DOID:9234 ICD10CM:D09.1 ICD9CM:233.9 SNOMEDCT_US_2015_03_01:190185006 UMLS_CUI:C0154092 carcinoma in situ of other and unspecified urinary organs (disorder) disease_ontology SNOMEDCT_2005_07_31:190185006 carcinoma in situ of other and unspecified urinary organs (disorder) pyriform sinus cancer DOID:9235 ICD10CM:C12 ICD9CM:148.1 NCI:C3531 SNOMEDCT_US_2015_03_01:363401000 SNOMEDCT_US_2015_03_01:93978008 UMLS_CUI:C0153400 disease_ontology malignant neoplasm of pyriform fossa malignant neoplasm of the Pyriform Fossa malignant tumor of pyriform fossa (disorder) SNOMEDCT_2005_07_31:363401000 malignant tumor of pyriform fossa (disorder) MTHICD9_2006:148.1 malignant neoplasm of pyriform fossa NCI2004_11_17:C3531 malignant neoplasm of the Pyriform Fossa erythromelalgia DOID:9240 Erythromelalgia (disorder) ICD10CM:I73.81 ICD9CM:443.82 MSH:D004916 NCI:C34593 SNOMEDCT_US_2015_03_01:238777005 SNOMEDCT_US_2015_03_01:37151006 UMLS_CUI:C0014804 disease_ontology Erythromelalgia (disorder) SNOMEDCT_2005_07_31:37151006 reticulosarcoma involving lymph nodes of axilla and upper limb DOID:9241 Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) disease_ontology true Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188492005 Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:95227006 Alagille syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. Alagille-Watson syndrome Arteriohepatic dysplasia (disorder) DOID:9245 ICD10CM:Q44.7 MSH:D016738 NCI:C35139 OMIM mapping confirmed by DO. [SN]. OMIM:118450 OMIM:610205 SNOMEDCT_US_2015_03_01:31742004 UMLS_CUI:C0085280 disease_ontology Arteriohepatic dysplasia (disorder) SNOMEDCT_2005_07_31:31742004 Alagille-Watson syndrome CSP2005:5005-0002 A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. url:http://digestive.niddk.nih.gov/DDISEASES/pubs/alagille/ cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. DOID:9246 Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) MSH:D028243 OMIM:105150 OMIM:117300 OMIM:176500 OMIM:605714 ORDO:85458 SNOMEDCT_US_2015_03_01:56453003 UMLS_CUI:C0268394 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology dutch hereditary cerebral amyloid angiopathy Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) SNOMEDCT_2005_07_31:56453003 An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. OMIM:605714 url:http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy Pallister-Hall syndrome DOID:9248 MSH:D054975 NCI:C84987 OMIM mapping confirmed by DO. [SN]. OMIM:146510 Pallister-Hall syndrome (disorder) SNOMEDCT_US_2015_03_01:56677004 UMLS_CUI:C0265220 disease_ontology Pallister-Hall syndrome (disorder) SNOMEDCT_2005_07_31:56677004 Beemer-Langer syndrome A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. DOID:9249 MSH:C537599 OMIM mapping confirmed by DO. [LS]. OMIM:269860 SNOMEDCT_US_2015_03_01:254052001 UMLS_CUI:C0432198 disease_ontology type IV short rib polydactyly syndrome (disorder) SNOMEDCT_2005_07_31:254052001 type IV short rib polydactyly syndrome (disorder) A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. url:http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome url:http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ acrocallosal syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. ACLS DOID:9250 MSH:D055673 NCI:C84531 OMIM mapping confirmed by DO. [SN]. OMIM:200990 SCHINZEL ACROCALLOSAL SYNDROME Schinzel syndrome 1 UMLS_CUI:C0796147 disease_ontology MTH:NOCODE Schinzel syndrome 1 ACLS OMIM:200990 A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. url:http://en.wikipedia.org/wiki/Acrocallosal_syndrome amino acid metabolic disorder An inherited metabolic disorders which impair the synthesis and degradation of amino acids. DOID:9252 ICD10CM:E72.9 ICD9CM:270 ICD9CM:270.9 MSH:D000592 NCI:C97090 SNOMEDCT_US_2015_03_01:154734005 SNOMEDCT_US_2015_03_01:190680002 SNOMEDCT_US_2015_03_01:190740001 SNOMEDCT_US_2015_03_01:267496003 SNOMEDCT_US_2015_03_01:42930003 SNOMEDCT_US_2015_03_01:44779003 UMLS_CUI:C0002514 disease_ontology inborn errors of amino acid metabolism An inherited metabolic disorders which impair the synthesis and degradation of amino acids. url:http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism gastrointestinal stromal tumor DOID:9253 GANT GIST MSH:D046152 NCI:C3868 OMIM mapping confirmed by DO. [SN]. OMIM:606764 SNOMEDCT_US_2015_03_01:128755003 SNOMEDCT_US_2015_03_01:420120006 Stromal tumor of gastrointestinal tract UMLS_CUI:C0238198 disease_ontology GANT NCI2004_11_17:C27940 GIST SNOMEDCT_2005_07_31:128755003 NCI2004_11_17:C3868 Stromal tumor of gastrointestinal tract mast-cell leukemia A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. DOID:9254 ICD10CM:C94.3 ICD10CM:C94.30 MSH:D007946 NCI:C3169 SNOMEDCT_US_2015_03_01:110002002 SNOMEDCT_US_2015_03_01:128924002 SNOMEDCT_US_2015_03_01:188755006 SNOMEDCT_US_2015_03_01:70798001 UMLS_CUI:C0023461 disease_ontology A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. url:http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. DOID:9255 MSH:C563003 OMIM:600274 OMIM:600795 ORDO:282 SNOMEDCT_US_2015_03_01:42369001 UMLS_CUI:C0520716 Wilhemsen-Lynch disease Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. url:http://en.wikipedia.org/wiki/Frontotemporal_dementia url:http://www.ncbi.nlm.nih.gov/pubmed/21121521 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. DOID:9256 KEGG:05210 MSH:D015179 OMIM:114500 OMIM:608812 OMIM:611469 OMIM:612229 OMIM:612230 OMIM:612231 OMIM:612232 OMIM:612589 OMIM:612590 OMIM:612591 OMIM:612592 OMIM:615083 UMLS_CUI:C1527249 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A large intestine cancer that is located_in the colon and/or located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=444983 Waardenburg's syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. DOID:9258 MSH:D014849 NCI:C75008 NCI:C85222 OMIM:148820 OMIM:193500 OMIM:193510 OMIM:277580 OMIM:600193 OMIM:606662 OMIM:608890 OMIM:611584 OMIM:613265 OMIM:613266 ORDO:3440 ORDO:894 ORDO:895 ORDO:896 SNOMEDCT_US_2015_03_01:47434006 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898 Waardenburg Shah syndrome Waardenburg syndrome Waardenburg, types I and/or II Waardenburg-Klein syndrome Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology van der Hoeve Halbertsona Waardenburg syndrome CSP2005:4006-0098 van der Hoeve Halbertsona Waardenburg syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. url:http://en.wikipedia.org/wiki/Waardenburg_syndrome url:http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract SNOMEDCT_2005_07_31:47434006 Waardenburg, types I and/or II MTHICD9_2006:270.2 Waardenburg syndrome nasopharynx carcinoma A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or "throat", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. DOID:8813 DOID:8814 DOID:9057 DOID:9144 DOID:9197 DOID:9229 DOID:9261 ICD10CM:C11 ICD10CM:C11.0 ICD10CM:C11.1 ICD10CM:C11.2 ICD10CM:C11.3 ICD10CM:C11.9 ICD9CM:147 ICD9CM:147.0 ICD9CM:147.1 ICD9CM:147.2 ICD9CM:147.3 ICD9CM:147.9 MSH:D009303 NCI:C9321 Nasopharyngeal carcinoma OMIM:161550 OMIM:607101 OMIM:607107 ORDO:150 SNOMEDCT_US_2015_03_01:187692001 SNOMEDCT_US_2015_03_01:187693006 SNOMEDCT_US_2015_03_01:187696003 SNOMEDCT_US_2015_03_01:187699005 SNOMEDCT_US_2015_03_01:187700006 SNOMEDCT_US_2015_03_01:187704002 SNOMEDCT_US_2015_03_01:187707009 SNOMEDCT_US_2015_03_01:363397008 SNOMEDCT_US_2015_03_01:363398003 SNOMEDCT_US_2015_03_01:93861003 SNOMEDCT_US_2015_03_01:93919005 SNOMEDCT_US_2015_03_01:93970001 SNOMEDCT_US_2015_03_01:94078000 UMLS_CUI:C0153392 UMLS_CUI:C0153393 UMLS_CUI:C0153394 UMLS_CUI:C0153395 UMLS_CUI:C0153396 UMLS_CUI:C0238301 Xref MGI. OMIM mapping confirmed by DO. [SN]. carcinoma of nasopharynx disease_ontology malignant Nasopharyngeal tumor malignant neoplasm of anterior wall of nasopharynx malignant neoplasm of lateral wall of nasopharynx malignant neoplasm of lateral wall of nasopharynx NOS (disorder) malignant neoplasm of nasopharyngeal wall (disorder) malignant neoplasm of nasopharyngeal wall NOS malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx (disorder) [Ambiguous] malignant neoplasm of other specified sites of nasopharynx malignant neoplasm of posterior wall of nasopharynx malignant neoplasm of roof of nasopharynx malignant neoplasm of superior wall of nasopharynx malignant tumor of anterior wall of nasopharynx malignant tumor of lateral wall of nasopharynx malignant tumor of posterior wall of nasopharynx nasopharynx cancer primary malignant neoplasm of anterior wall of nasopharynx A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or "throat", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. url:http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma MTH:U003238 malignant tumor of lateral wall of nasopharynx NCI2004_11_17:C3871 Nasopharyngeal carcinoma NCI2004_11_17:C9321 malignant Nasopharyngeal tumor MTH:U001027 malignant tumor of anterior wall of nasopharynx MTH:U001026 malignant tumor of posterior wall of nasopharynx SNOMEDCT_2005_07_31:93674007 primary malignant neoplasm of anterior wall of nasopharynx SNOMEDCT_2005_07_31:93919005 malignant neoplasm of nasopharynx (disorder) [Ambiguous] SNOMEDCT_2005_07_31:187699005 malignant neoplasm of lateral wall of nasopharynx NOS (disorder) SNOMEDCT_2005_07_31:240163000 malignant neoplasm of nasopharyngeal wall (disorder) MTHICD9_2006:147.0 malignant neoplasm of roof of nasopharynx ICD9CM_2006:147 MTH:NOCODE malignant neoplasm of nasopharynx MTHICD9_2006:147.9 malignant neoplasm of nasopharyngeal wall NOS homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. CBS deficiency DOID:9263 Homocystinuria (disorder) ICD10CM:E72.11 MSH:D006712 NCI:C84765 OMIM:236200 OMIM:236250 ORDO:394 SNOMEDCT_US_2015_03_01:11282001 SNOMEDCT_US_2015_03_01:190709008 UMLS_CUI:C0019880 Xref MGI. cystathionine beta synthase deficiency cystathionine synthase deficiency disease_ontology An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. url:http://en.wikipedia.org/wiki/Homocystinuria Homocystinuria (disorder) SNOMEDCT_2005_07_31:11282001 CSP2005:1849-0835 cystathionine synthase deficiency sulfuraminoacidemia DOID:9264 Disturbance of sulfur-bearing amino acid metabolism NOS (disorder) Disturbance of sulphur-bearing amino-acid metabolism NOS Disturbances of sulphur-bearing amino-acid metabolism Sulphuraminoacidaemia disease_ontology true Disturbance of sulphur-bearing amino-acid metabolism NOS SNOMEDCT_2005_07_31:190712006 SNOMEDCT_2005_07_31:28882002 Sulphuraminoacidaemia Disturbances of sulphur-bearing amino-acid metabolism ICD9CM_2006:270.4 Disturbance of sulfur-bearing amino acid metabolism NOS (disorder) SNOMEDCT_2005_07_31:267421004 histidine metabolism disease An amino acid metabolic disorder that involves deficiency in histidine. DOID:9265 Disturbances of histidine metabolism ICD10CM:E70.4 ICD10CM:E70.40 ICD9CM:270.5 SNOMEDCT_US_2015_03_01:190715008 SNOMEDCT_US_2015_03_01:44176004 UMLS_CUI:C0268512 disease_ontology An amino acid metabolic disorder that involves deficiency in histidine. url:http://en.wikipedia.org/wiki/Histidine#Metabolism Disturbances of histidine metabolism ICD9CM_2006:270.5 cystinuria An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. DOID:9266 ICD10CM:E72.01 MSH:D003555 NCI:C84664 OMIM mapping confirmed by DO. [SN]. OMIM:220100 SNOMEDCT_US_2015_03_01:154738008 SNOMEDCT_US_2015_03_01:267498002 SNOMEDCT_US_2015_03_01:85020001 UMLS_CUI:C0010691 disease_ontology An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. url:http://en.wikipedia.org/wiki/Cystinuria urea cycle disorder An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. DOID:9267 ICD10CM:E72.2 ICD10CM:E72.20 ICD9CM:270.6 MSH:D056806 NCI:C84785 SNOMEDCT_US_2015_03_01:36444000 UMLS_CUI:C0154246 disease_ontology disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect ICD9CM_2006:270.6 disorder of urea cycle metabolism An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. url:http://en.wikipedia.org/wiki/Urea_cycle_disorder glycine encephalopathy An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. DOID:9268 ICD10CM:E72.51 MSH:D020158 NCI:C84937 Non-ketotic hyperglycinemia Non-ketotic hyperglycinemia (disorder) OMIM mapping confirmed by DO. [SN]. OMIM:605899 SNOMEDCT_US_2015_03_01:237939006 UMLS_CUI:C0751748 disease_ontology nonketotic hyperglycinemia CSP2005:1849-0664 nonketotic hyperglycinemia Non-ketotic hyperglycinemia (disorder) SNOMEDCT_2005_07_31:237939006 An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia maple syrup urine disease An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. DOID:9269 ICD10CM:E71.0 Ketoacidaemia MSH:D008375 NCI:C34806 OMIM:246900 OMIM:248600 OMIM:615135 ORDO:511 SNOMEDCT_US_2015_03_01:27718001 UMLS_CUI:C0024776 Xref MGI. OMIM mapping confirmed by DO. [SN]. branched chain ketoaciduria dihydrolipoamide dehydrogenase deficiency disease_ontology CSP2005:1849-1063 branched chain ketoaciduria OMIM:246900 dihydrolipoamide dehydrogenase deficiency An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease Ketoacidaemia SNOMEDCT_2005_07_31:27718001 metastatic malignant neoplasm to brain DOID:927 disease_ontology metastatic neoplasm to the Brain secondary malignant neoplasm of brain (disorder) true NCI2004_11_17:C3813 metastatic neoplasm to the Brain SNOMEDCT_2005_07_31:94225005 secondary malignant neoplasm of brain (disorder) alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. DOID:0050714 DOID:9270 Homogentisate 1,2-dioxygenase deficiency ICD10CM:E70.29 MSH:D000474 NCI:C84546 OMIM mapping confirmed by DO. [SN]. OMIM:203500 ORDO:56 SNOMEDCT_US_2015_03_01:124207005 SNOMEDCT_US_2015_03_01:190689001 SNOMEDCT_US_2015_03_01:24250001 SNOMEDCT_US_2015_03_01:267418001 SNOMEDCT_US_2015_03_01:360378009 SNOMEDCT_US_2015_03_01:360381004 SNOMEDCT_US_2015_03_01:367388008 UMLS_CUI:C0002066 alcaptonuria deficiency of homogentisicase disease_ontology SNOMEDCT_2005_07_31:124207005 deficiency of homogentisicase An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. url:http://en.wikipedia.org/wiki/Alkaptonuria Homogentisate 1,2-dioxygenase deficiency SNOMEDCT_2005_07_31:267418001 ornithine carbamoyltransferase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. DOID:9271 ICD10CM:E72.4 MSH:D020163 NCI:C84957 OMIM mapping confirmed by DO. [SN]. OMIM:311250 SNOMEDCT_US_2015_03_01:124249000 SNOMEDCT_US_2015_03_01:80908008 UMLS_CUI:C0268542 deficiency of citrulline phosphorylase disease_ontology ornithine transcarbamylase deficiency SNOMEDCT_2005_07_31:80908008 deficiency of citrulline phosphorylase An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. url:http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency CSP2005:1849-9662 ornithine transcarbamylase deficiency citrullinemia ASS deficiency An urea cycle disorder that involves the accumulation of ammonia in the blood. DOID:9273 ICD10CM:E72.23 MSH:D020159 NCI:C84639 OMIM:215700 OMIM:603471 OMIM:605814 ORDO:187 SNOMEDCT_US_2015_03_01:124711003 SNOMEDCT_US_2015_03_01:15489004 SNOMEDCT_US_2015_03_01:398630005 SNOMEDCT_US_2015_03_01:398680004 UMLS_CUI:C0175683 Xref MGI. OMIM mapping confirmed by DO. [SN]. deficiency of citrulline-aspartate ligase disease_ontology SNOMEDCT_2005_07_31:124711003 deficiency of citrulline-aspartate ligase ASS deficiency CSP2005:1849-9492 An urea cycle disorder that involves the accumulation of ammonia in the blood. url:http://en.wikipedia.org/wiki/Citrullinemia hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. DOID:9274 ICD10CM:E72.3 MSH:D020167 OMIM mapping confirmed by DO. [SN]. OMIM:238700 OMIM:238710 ORDO:2203 SNOMEDCT_US_2015_03_01:58558003 UMLS_CUI:C0268553 disease_ontology An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. url:http://en.wikipedia.org/wiki/Hyperlysinemia tyrosinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. DOID:9275 ICD10CM:E70.21 MSH:D020176 NCI:C98640 OMIM mapping submitted by NeuroDevNet. [LS]. SNOMEDCT_US_2015_03_01:190694001 UMLS_CUI:C0268483 disease_ontology An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. url:http://en.wikipedia.org/wiki/Tyrosinemia primary cerebellar degeneration DOID:9277 ICD9CM:334.2 MSH:D013132 SNOMEDCT_US_2015_03_01:192868000 SNOMEDCT_US_2015_03_01:192872001 SNOMEDCT_US_2015_03_01:23732000 UMLS_CUI:C0033132 disease_ontology hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. Arginase deficiency (disorder) DOID:9278 ICD10CM:E72.21 MSH:D020162 NCI:C84568 OMIM mapping confirmed by DO. [SN]. OMIM:207800 SNOMEDCT_US_2015_03_01:124518006 SNOMEDCT_US_2015_03_01:23501004 UMLS_CUI:C0268548 argininemia deficiency of canavanase disease_ontology An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. url:http://www.medlink.com/medlinkcontent.asp CSP2005:1849-9378 argininemia Arginase deficiency (disorder) SNOMEDCT_2005_07_31:23501004 SNOMEDCT_2005_07_31:124518006 deficiency of canavanase hyperhomocysteinemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. DOID:9279 MSH:D020138 NCI:C84770 SNOMEDCT_US_2015_03_01:419503008 UMLS_CUI:C0598608 disease_ontology An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. url:http://en.wikipedia.org/wiki/Hyperhomocysteinemia CNS metastases CNS metastases (tumor staging) DOID:928 disease_ontology metastatic tumor to the CNS true CNS metastases (tumor staging) SNOMEDCT_2005_07_31:261731003 NCI2004_11_17:C4015 metastatic tumor to the CNS carbamoyl phosphate synthetase I deficiency disease An amino acid metabolic disorder that involves accumulation of ammonia in the blood. CPS I deficiency DOID:9280 MSH:D020165 NCI:C84612 OMIM mapping confirmed by DO. [SN]. OMIM:237300 SNOMEDCT_US_2015_03_01:62522004 UMLS_CUI:C0751753 disease_ontology An amino acid metabolic disorder that involves accumulation of ammonia in the blood. url:http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency phenylketonuria An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. DOID:14455 DOID:9281 Følling's disease ICD9CM:270.1 MSH:D010661 MSH:D017042 NCI:C81315 OMIM mapping confirmed by DO. [SN]. OMIM:261600 PKU SNOMEDCT_US_2015_03_01:154735006 SNOMEDCT_US_2015_03_01:190687004 SNOMEDCT_US_2015_03_01:297225000 UMLS_CUI:C0031485 UMLS_CUI:C0085547 disease_ontology maternal phenylketonuria phenylalaninemia MTHICD9_2006:270.1 PKU CSP2005:1849-1177 phenylalaninemia An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. url:http://en.wikipedia.org/wiki/Phenylketonuria ocular hypertension DOID:9282 ICD10CM:H40.05 ICD9CM:365.04 MSH:D009798 NCI:C3285 Ocular hypertension Ocular hypertension (disorder) SNOMEDCT_US_2015_03_01:155121008 SNOMEDCT_US_2015_03_01:193536008 SNOMEDCT_US_2015_03_01:267721003 SNOMEDCT_US_2015_03_01:4210003 UMLS_CUI:C0028840 disease_ontology Ocular hypertension SNOMEDCT_2005_07_31:267721003 Ocular hypertension SNOMEDCT_2005_07_31:193536008 Ocular hypertension (disorder) SNOMEDCT_2005_07_31:4210003 Ocular hypertension SNOMEDCT_2005_07_31:155121008 ICD9CM_2006:365.04 Ocular hypertension borderline glaucoma DOID:9283 ICD10CM:H40.00 ICD9CM:365.00 Preglaucoma (disorder) Preglaucoma, NOS Preglaucoma, unspecified SNOMEDCT_US_2015_03_01:193532005 SNOMEDCT_US_2015_03_01:359633007 SNOMEDCT_US_2015_03_01:47891005 UMLS_CUI:C0549470 Unspecified preglaucoma (disorder) disease_ontology ICD9CM_2006:365.00 Preglaucoma, unspecified SNOMEDCT_2005_07_31:193532005 Unspecified preglaucoma (disorder) Preglaucoma, NOS SNOMEDCT_2005_07_31:47891005 Preglaucoma (disorder) SNOMEDCT_2005_07_31:359633007 priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. DOID:9286 ICD10CM:N48.30 ICD9CM:607.3 MSH:D011317 Mentulagra NCI:C85022 Priapism (disorder) SNOMEDCT_US_2015_03_01:155930001 SNOMEDCT_US_2015_03_01:198027001 SNOMEDCT_US_2015_03_01:4287008 SNOMEDCT_US_2015_03_01:6273006 UMLS_CUI:C0033117 disease_ontology Mentulagra SNOMEDCT_2005_07_31:4287008 Priapism (disorder) SNOMEDCT_2005_07_31:6273006 A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. url:http://en.wikipedia.org/wiki/Priapism url:http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx penile vascular disorder DOID:9287 disease_ontology true vascular disorder of penis ICD9CM_2006:607.82 vascular disorder of penis myopathy of extraocular muscle DOID:929 ICD10CM:H05.82 ICD9CM:376.82 Myopathy of extraocular muscles (disorder) SNOMEDCT_US_2015_03_01:57130002 UMLS_CUI:C0155286 disease_ontology Myopathy of extraocular muscles (disorder) SNOMEDCT_2005_07_31:57130002 cleft lip DOID:9296 DOID:9333 EFO:0003959 ICD10CM:Q36 ICD10CM:Q36.9 ICD9CM:749.1 ICD9CM:749.10 ICD9CM:749.11 Labium leporinum MSH:D002971 NCI:C87175 SNOMEDCT_US_2015_03_01:156941008 SNOMEDCT_US_2015_03_01:204606000 SNOMEDCT_US_2015_03_01:204609007 SNOMEDCT_US_2015_03_01:62696001 SNOMEDCT_US_2015_03_01:80281008 UMLS_CUI:C0008924 UMLS_CUI:C0158651 cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip disease_ontology hare lip CSP2005:0725-8436 hare lip ICD9CM_2006:749.11 cleft lip, unilateral, complete Labium leporinum MTHICD9_2006:749.1 lip disease DOID:9297 ICD10CM:K13.0 ICD9CM:528.5 Lip disorder MSH:D008047 NCI:C26818 SNOMEDCT_US_2015_03_01:196563002 SNOMEDCT_US_2015_03_01:90678009 UMLS_CUI:C0023760 disease of lips disease of lips NOS (disorder) disease_ontology disorder of lip (disorder) ICD9CM_2006:528.5 disease of lips SNOMEDCT_2005_07_31:196563002 disease of lips NOS (disorder) Lip disorder NCI2004_11_17:C26818 SNOMEDCT_2005_07_31:90678009 disorder of lip (disorder) myocardium cancer DOID:14536 DOID:9299 NCI:C4569 NCI:C5349 SNOMEDCT_US_2015_03_01:126732009 SNOMEDCT_US_2015_03_01:363437005 SNOMEDCT_US_2015_03_01:93914000 UMLS_CUI:C0346611 UMLS_CUI:C1290402 disease_ontology malignant Myocardial tumor malignant neoplasm of myocardium tumor of Myocardium NCI2004_11_17:C5349 tumor of Myocardium MTHICD9_2006:164.1 SNOMEDCT_2005_07_31:93914000 malignant neoplasm of myocardium NCI2004_11_17:C4569 malignant Myocardial tumor language disorder A communication disorder that involves the processing of linguistic information. DOID:93 ICD10CM:F80.9 MSH:D007806 NCI:C97155 SNOMEDCT_US_2015_03_01:62305002 UMLS_CUI:C0023015 disease_ontology A communication disorder that involves the processing of linguistic information. url:http://en.wikipedia.org/wiki/Language_disorder orbital disease An adnexa disease that is located_in the eye socket. DOID:930 ICD10CM:H05 ICD10CM:H05.9 ICD9CM:376 ICD9CM:376.9 MSH:D009916 SNOMEDCT_US_2015_03_01:11270005 SNOMEDCT_US_2015_03_01:155200004 SNOMEDCT_US_2015_03_01:194036005 SNOMEDCT_US_2015_03_01:267746003 UMLS_CUI:C0029182 disease_ontology An adnexa disease that is located_in the eye socket. url:http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html neurofibroma of the heart DOID:9300 NCI:C5359 Neurofibroma of Heart UMLS_CUI:C1096349 disease_ontology NCI2004_11_17:C5359 Neurofibroma of Heart splenic tuberculosis An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. DOID:9305 ICD10CM:A18.85 ICD9CM:017.7 MSH:D014400 SNOMEDCT_US_2015_03_01:28399005 UMLS_CUI:C0041331 disease_ontology An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf mechanical strabismus DOID:9306 ICD10CM:H50.6 ICD10CM:H50.60 ICD9CM:378.6 ICD9CM:378.60 MSH:D013285 SNOMEDCT_US_2015_03_01:194121009 SNOMEDCT_US_2015_03_01:194124001 SNOMEDCT_US_2015_03_01:5371001 UMLS_CUI:C0152223 disease_ontology rectal prolapse DOID:9307 ICD10CM:K62.3 ICD9CM:569.1 MSH:D012005 NCI:C34973 Procidentia, rectum SNOMEDCT_US_2015_03_01:155802002 SNOMEDCT_US_2015_03_01:197212009 SNOMEDCT_US_2015_03_01:197214005 SNOMEDCT_US_2015_03_01:197215006 SNOMEDCT_US_2015_03_01:57773001 UMLS_CUI:C0034888 disease_ontology MTHICD9_2006:569.1 Procidentia, rectum monieziasis A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. DOID:931 MSH:D008989 UMLS_CUI:C0026414 disease_ontology A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. url:http://www.ncbi.nlm.nih.gov/pubmed/15287174 url:http://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis nasal cavity neoplasm DOID:9310 NCI:C4413 SNOMEDCT_US_2015_03_01:126670003 UMLS_CUI:C0345630 disease_ontology neoplasm of nasal cavity (disorder) tumor of the nasal cavity SNOMEDCT_2005_07_31:126670003 neoplasm of nasal cavity (disorder) NCI2004_11_17:C4413 tumor of the nasal cavity chronic ethmoiditis A ethmoid sinusitis which lasts for 12 weeks or more. DOID:9312 ICD10CM:J32.2 ICD9CM:473.2 NCI:C34472 SNOMEDCT_US_2015_03_01:155528009 SNOMEDCT_US_2015_03_01:266384001 SNOMEDCT_US_2015_03_01:73237007 UMLS_CUI:C0008681 chronic ethmoid sinusitis chronic ethmoidal sinusitis chronic ethmoidal sinusitis (disorder) disease_ontology ethmoidal sinusitis - chronic SNOMEDCT_2005_07_31:73237007 chronic ethmoidal sinusitis (disorder) SNOMEDCT_2005_07_31:266384001 ethmoidal sinusitis - chronic NCI2004_11_17:C34472 chronic ethmoidal sinusitis SNOMEDCT_2005_07_31:155528009 ethmoidal sinusitis - chronic ICD9CM_2006:473.2 chronic ethmoidal sinusitis A ethmoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html glaucoma associated with anomalies of iris DOID:9314 Glaucoma associated with anomalies of iris (disorder) disease_ontology true Glaucoma associated with anomalies of iris (disorder) SNOMEDCT_2005_07_31:26467009 lymphangitis A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. DOID:9317 ICD10CM:I89.1 ICD9CM:457.2 Lymphangitis (disorder) Lymphangitis NOS MSH:D008205 NCI:C34790 SNOMEDCT_US_2015_03_01:1415005 SNOMEDCT_US_2015_03_01:266335009 UMLS_CUI:C0024225 disease_ontology A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. url:http://en.wikipedia.org/wiki/Lymphangitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis Lymphangitis NOS SNOMEDCT_2005_07_31:266335009 Lymphangitis (disorder) SNOMEDCT_2005_07_31:1415005 Lymphangitis NOS MTHICD9_2006:457.2 intervertebral disc disorder DOID:10984 DOID:10985 DOID:12831 DOID:9321 Displacement of lumbar intervertebral disc without myelopathy Displacement of lumbar intervertebral disc without myelopathy (disorder) Displacement of thoracic intervertebral disc without myelopathy (disorder) disease_ontology displacement of the lumbar or lumbosacral intervertebral disc without myelopathy displacement of thoracic intervertebral disc without myelopathy displacement of thoracic or lumbar intervertebral disc without myelopathy true Displacement of lumbar intervertebral disc without myelopathy (disorder) SNOMEDCT_2005_07_31:20021007 Displacement of lumbar intervertebral disc without myelopathy ICD9CM_2006:722.10 Displacement of thoracic intervertebral disc without myelopathy (disorder) SNOMEDCT_2005_07_31:64787009 Cestoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. Cestode infection (disorder) Cestode infection NOS (disorder) Cestode infection, unspecified (disorder) Cestode infestation DOID:10077 DOID:933 Infection by Taenia (disorder) Taenia infestation Taeniasis, unspecified Taeniasis, unspecified (disorder) Tapeworm infection NOS Unspecified teniasis (disorder) disease due to Cestoda disease_ontology teniasis true Cestode infection (disorder) SNOMEDCT_2005_07_31:86133004 Cestode infection NOS (disorder) SNOMEDCT_2005_07_31:187156004 SNOMEDCT_2005_07_31:187150005 Unspecified teniasis (disorder) Cestode infection, unspecified (disorder) SNOMEDCT_2005_07_31:187530000 MTHICD9_2006:123.9 Tapeworm infection NOS SNOMEDCT_2005_07_31:154415009 SNOMEDCT_2005_07_31:266222003 Taenia infestation Cestode infestation SNOMEDCT_2005_07_31:154410004 SNOMEDCT_2005_07_31:105677000 disease due to Cestoda SNOMEDCT_2005_07_31:187525004 Taeniasis, unspecified (disorder) Cestode infestation SNOMEDCT_2005_07_31:266219000 Infection by Taenia (disorder) SNOMEDCT_2005_07_31:76172008 ICD9CM_2006:123.3 Taeniasis, unspecified A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. url:http://en.wikipedia.org/wiki/Cestodes scotoma Blind spot area scotoma NOS (finding) DOID:10750 DOID:10751 DOID:9335 DOID:9482 Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction ICD10CM:H53.42 ICD10CM:H53.43 ICD10CM:H53.45 ICD9CM:368.42 ICD9CM:368.43 ICD9CM:368.44 ICD9CM:368.45 SNOMEDCT_US_2015_03_01:193673000 SNOMEDCT_US_2015_03_01:33970004 Scotoma of blind spot area Sector or arcuate visual field defects UMLS_CUI:C0029657 UMLS_CUI:C0152192 UMLS_CUI:C0155011 UMLS_CUI:C0155012 disease_ontology Enlarged angioscotoma MTHICD9_2006:368.42 Blind spot area scotoma NOS (finding) SNOMEDCT_2005_07_31:193673000 Enlarged paracaecal scotoma SNOMEDCT_2005_07_31:33970004 ICD9CM_2006:368.42 Scotoma of blind spot area bestiality DOID:9336 ICD9CM:302.1 SNOMEDCT_US_2015_03_01:154907002 SNOMEDCT_US_2015_03_01:268763002 SNOMEDCT_US_2015_03_01:31997002 SNOMEDCT_US_2015_03_01:81463002 UMLS_CUI:C0152186 Zoophilia disease_ontology ICD9CM_2006:302.1 Zoophilia urethral false passage DOID:9339 ICD10CM:N36.5 ICD9CM:599.4 SNOMEDCT_US_2015_03_01:74944002 UMLS_CUI:C0156286 disease_ontology urethral false passage (disorder) SNOMEDCT_2005_07_31:74944002 urethral false passage (disorder) viral infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Viruses. DOID:1329 DOID:934 ICD10CM:A94 ICD10CM:B34 ICD10CM:B34.9 ICD9CM:060-066.99 ICD9CM:066.9 MSH:D001102 MSH:D014777 NCI:C3439 NCI:C34396 SNOMEDCT_US_2015_03_01:154319002 SNOMEDCT_US_2015_03_01:154345006 SNOMEDCT_US_2015_03_01:154372003 SNOMEDCT_US_2015_03_01:186619002 SNOMEDCT_US_2015_03_01:186754003 SNOMEDCT_US_2015_03_01:187471008 SNOMEDCT_US_2015_03_01:266116004 SNOMEDCT_US_2015_03_01:266188005 SNOMEDCT_US_2015_03_01:266194002 SNOMEDCT_US_2015_03_01:34014006 SNOMEDCT_US_2015_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease Viral disease (disorder) Viral infection NOS Viral infection NOS (disorder) Viral infection, unspecified (disorder) Viral: [infection NOS] or [illness] arbovirus infectious disease arthropod-borne viruses disease_ontology virus infection SNOMEDCT_2005_07_31:154372003 Viral infection NOS CSP2005:3099-8150 virus infection A disease by infectious agent that results_in infection, has_material_basis_in Viruses. url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html SNOMEDCT_2005_07_31:266188005 Viral disease NCI2004_11_17:C3439 Viral Infection SNOMEDCT_2005_07_31:186754003 Viral: [infection NOS] or [illness] SNOMEDCT_2005_07_31:187471008 Viral infection, unspecified (disorder) SNOMEDCT_2005_07_31:266116004 Viral infection NOS (disorder) MTHICD9_2006:079.99 Viral infection NOS SNOMEDCT_2005_07_31:154319002 Viral disease SNOMEDCT_2005_07_31:34014006 Viral disease (disorder) CSP2005:3099-7852 virus infection cheilopalatoschisis Complete unilateral cleft palate with cleft lip (disorder) DOID:12562 DOID:12833 DOID:9340 Unilateral complete cleft palate with cleft lip Unilateral complete cleft palate with cleft lip (disorder) Unilateral incomplete cleft palate with cleft lip Unilateral incomplete cleft palate with cleft lip (disorder) cleft palate with cleft lip, unilateral, complete cleft palate with cleft lip, unilateral, incomplete disease_ontology incomplete unilateral cleft palate with cleft lip (disorder) true ICD9CM_2006:749.22 cleft palate with cleft lip, unilateral, incomplete SNOMEDCT_2005_07_31:204612005 Unilateral complete cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:204613000 Unilateral incomplete cleft palate with cleft lip (disorder) Complete unilateral cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:50484006 SNOMEDCT_2005_07_31:18474007 incomplete unilateral cleft palate with cleft lip (disorder) ICD9CM_2006:749.21 cleft palate with cleft lip, unilateral, complete urethral diverticulum DOID:9341 ICD10CM:N36.1 ICD9CM:599.2 NCI:C39861 SNOMEDCT_US_2015_03_01:90531003 UMLS_CUI:C0152443 disease_ontology urethral Diverticulum urethral diverticulum (disorder) SNOMEDCT_2005_07_31:90531003 urethral diverticulum (disorder) NCI2004_11_17:C39861 urethral Diverticulum Taylor's syndrome Congestion-fibrosis syndrome DOID:9346 ICD9CM:625.5 SNOMEDCT_US_2015_03_01:156027002 SNOMEDCT_US_2015_03_01:39402007 Taylor syndrome UMLS_CUI:C0152078 disease_ontology pelvic congestion syndrome pelvic congestion syndrome (disorder) Congestion-fibrosis syndrome MTHICD9_2006:625.5 SNOMEDCT_2005_07_31:156027002 pelvic congestion syndrome ICD9CM_2006:625.5 pelvic congestion syndrome SNOMEDCT_2005_07_31:39402007 pelvic congestion syndrome (disorder) carotid artery dissection Carotid artery dissection (disorder) DOID:9348 Dissection of carotid artery ICD10CM:I77.71 ICD9CM:443.21 SNOMEDCT_US_2015_03_01:230729006 UMLS_CUI:C0338585 disease_ontology Dissection of carotid artery ICD9CM_2006:443.21 Carotid artery dissection (disorder) SNOMEDCT_2005_07_31:230729006 diabetes mellitus A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. DOID:9351 ICD10CM:E08-E13 ICD10CM:E11 ICD9CM:250 MSH:D003920 NCI:C2985 SNOMEDCT_US_2015_03_01:154671004 SNOMEDCT_US_2015_03_01:191044006 SNOMEDCT_US_2015_03_01:267467004 SNOMEDCT_US_2015_03_01:73211009 UMLS_CUI:C0011849 disease_ontology A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. PMID:9686693 url:http://www.who.int/diabetes/action_online/basics/en/ url:https://en.wikipedia.org/wiki/Diabetes_mellitus type 2 diabetes mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. DOID:9352 EFO:0001360 ICD10CM:E11 KEGG:04930 MSH:D003924 NCI:C26747 NIDDM OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 SNOMEDCT_US_2015_03_01:154672006 SNOMEDCT_US_2015_03_01:190323008 SNOMEDCT_US_2015_03_01:190384004 SNOMEDCT_US_2015_03_01:267468009 SNOMEDCT_US_2015_03_01:44054006 UMLS_CUI:C0011860 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology non-insulin-dependent diabetes mellitus type II diabetes mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 congenital hip dislocation Congen. disloc. hip Congenital dislocation of hip Congenital dislocation of hip NOS Congenital dislocation of hip NOS (disorder) Congenital dysplasia of the hip DOID:9353 Developmental dislocation of hip Developmental dysplasia of the hip disease_ontology true Congen. disloc. hip SNOMEDCT_2005_07_31:268347007 Congenital dislocation of hip NOS (disorder) SNOMEDCT_2005_07_31:205061001 Developmental dysplasia of the hip SNOMEDCT_2005_07_31:52781008 Congenital dysplasia of the hip SNOMEDCT_2005_07_31:205337000 Congenital dislocation of hip NOS MTHICD9_2006:754.30 Congenital dislocation of hip NOS SNOMEDCT_2005_07_31:205050009 Congenital dislocation of hip ICD9CM_2006:754.3 Developmental dislocation of hip SNOMEDCT_2005_07_31:48334007 Congen. disloc. hip SNOMEDCT_2005_07_31:157001006 hyperemesis gravidarum DOID:9357 disease_ontology true fibular collateral ligament bursitis DOID:9358 Fibular collateral ligament bursitis (disorder) ICD9CM:726.63 SNOMEDCT_US_2015_03_01:202870007 SNOMEDCT_US_2015_03_01:77323000 UMLS_CUI:C0158316 disease_ontology Fibular collateral ligament bursitis (disorder) SNOMEDCT_2005_07_31:77323000 enthesopathy of knee DOID:9359 disease_ontology true brain disease DOID:8510 DOID:936 ICD10CM:G93.40 ICD10CM:G93.9 ICD9CM:348.3 ICD9CM:348.30 ICD9CM:348.9 MSH:D001927 NCI:C26920 NCI:C96413 SNOMEDCT_US_2015_03_01:155053002 SNOMEDCT_US_2015_03_01:193051008 SNOMEDCT_US_2015_03_01:193059005 SNOMEDCT_US_2015_03_01:76011009 SNOMEDCT_US_2015_03_01:81308009 UMLS_CUI:C0006111 UMLS_CUI:C0085584 disease_ontology encephalopathy intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. DOID:9360 DOID:9361 DOID:9363 ICD10CM:J45 ICD9CM:493.1 SNOMEDCT_US_2015_03_01:155576005 SNOMEDCT_US_2015_03_01:195973000 SNOMEDCT_US_2015_03_01:195976008 SNOMEDCT_US_2015_03_01:266361008 SNOMEDCT_US_2015_03_01:266397004 SNOMEDCT_US_2015_03_01:8312004 UMLS_CUI:C0155880 disease_ontology An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. url:http://www.aafa.org/display.cfm?id=8&sub=17 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf status asthmaticus An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. Asthma with status asthmaticus (disorder) DOID:9362 ICD9CM:493.91 MSH:D013224 SNOMEDCT_US_2015_03_01:155577001 SNOMEDCT_US_2015_03_01:195980003 SNOMEDCT_US_2015_03_01:266363006 SNOMEDCT_US_2015_03_01:36979006 SNOMEDCT_US_2015_03_01:57546000 SNOMEDCT_US_2015_03_01:708090002 Severe asthma attack UMLS_CUI:C0038218 disease_ontology Asthma with status asthmaticus (disorder) SNOMEDCT_2005_07_31:57546000 SNOMEDCT_2005_07_31:195980003 Severe asthma attack An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. url:http://www.ncbi.nlm.nih.gov/pubmed/11399724 vesiculitis DOID:9365 ICD10CM:N49.0 ICD9CM:608.0 SNOMEDCT_US_2015_03_01:155935006 SNOMEDCT_US_2015_03_01:198043008 SNOMEDCT_US_2015_03_01:198044002 SNOMEDCT_US_2015_03_01:27001009 Seminal vesiculitis UMLS_CUI:C0042588 disease_ontology ICD9CM_2006:608.0 Seminal vesiculitis keratoconjunctivitis DOID:9367 DOID:9368 ICD10CM:H16.2 ICD10CM:H16.20 ICD9CM:370.40 MSH:D007637 NCI:C34744 SNOMEDCT_US_2015_03_01:155154005 SNOMEDCT_US_2015_03_01:193757003 SNOMEDCT_US_2015_03_01:193780006 SNOMEDCT_US_2015_03_01:88151007 UMLS_CUI:C0022573 certain types of keratoconjunctivitis disease_ontology orbital plasma cell granuloma DOID:9369 ICD10CM:H05.11 Idiopathic orbital inflammation Inflammatory pseudotumor of orbit (disorder) MSH:D016727 Pseudotumor of orbit SNOMEDCT_US_2015_03_01:302901005 SNOMEDCT_US_2015_03_01:72789009 UMLS_CUI:C0085270 disease_ontology orbital myositis orbital myositis (disorder) ICD9CM_2006:376.12 orbital myositis MTHICD9_2006:376.11 Pseudotumor of orbit Idiopathic orbital inflammation SNOMEDCT_2005_07_31:302901005 SNOMEDCT_2005_07_31:80698001 orbital myositis (disorder) SNOMEDCT_2005_07_31:194009008 orbital myositis Inflammatory pseudotumor of orbit (disorder) SNOMEDCT_2005_07_31:72789009 DNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. DOID:937 disease_ontology true A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. url:http://en.wikipedia.org/wiki/DNA_viruses exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. DOID:9370 ICD10CM:H05.20 ICD9CM:376.30 MSH:D005094 NCI:C43262 NCI:C87114 SNOMEDCT_US_2015_03_01:155200004 SNOMEDCT_US_2015_03_01:18265008 SNOMEDCT_US_2015_03_01:267746003 UMLS_CUI:C0015300 disease_ontology proptosis An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. url:http://en.wikipedia.org/wiki/Exophthalmos CSP2005:1114-8967 proptosis postural kyphosis A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. DOID:9373 disease_ontology true A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. DOID:9375 Fuch's Heterochromic iridocyclitis Fuchs uveitis syndrome Fuchs' heterochromic cyclitis ICD10CM:H20.81 ICD9CM:364.21 SNOMEDCT_US_2015_03_01:11226001 UMLS_CUI:C0016782 disease_ontology A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. url:http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis url:www.uveitissociety.org/pages/diseases/fhu.pdf Fuchs' heterochromic cyclitis ICD9CM_2006:364.21 Fuchs uveitis syndrome SNOMEDCT_2005_07_31:11226001 pigment dispersion syndrome of iris DOID:9377 Pigmentary iris degeneration Pigmentary iris degeneration (disorder) disease_ontology true Pigmentary iris degeneration SNOMEDCT_2005_07_31:193506004 Pigmentary iris degeneration (disorder) SNOMEDCT_2005_07_31:70397008 ICD9CM_2006:364.53 Pigmentary iris degeneration glaucomatocyclitic crisis DOID:9378 Glaucomatocyclitic crises Glaucomatocyclitic crisis (disorder) ICD9CM:364.22 SNOMEDCT_US_2015_03_01:29538005 Terrien-Viel syndrome UMLS_CUI:C0152138 disease_ontology Glaucomatocyclitic crisis (disorder) SNOMEDCT_2005_07_31:29538005 Glaucomatocyclitic crises ICD9CM_2006:364.22 glaucoma with ocular inflammation DOID:9379 Glaucoma associated with ocular inflammations Glaucoma associated with ocular inflammations (disorder) disease_ontology true Glaucoma associated with ocular inflammations ICD9CM_2006:365.62 Glaucoma associated with ocular inflammations (disorder) SNOMEDCT_2005_07_31:37155002 iridocyclitis DOID:9376 DOID:9380 DOID:9383 ICD10CM:H20.01 ICD9CM:364.01 ICD9CM:364.2 SNOMEDCT_US_2015_03_01:12630008 SNOMEDCT_US_2015_03_01:193485000 SNOMEDCT_US_2015_03_01:193496008 UMLS_CUI:C0007832 UMLS_CUI:C0154909 disease_ontology primary iridocyclitis gonococcal iridocyclitis DOID:9384 Gonococcal iridocyclitis (disorder) ICD10CM:A54.32 ICD9CM:098.41 SNOMEDCT_US_2015_03_01:186922002 SNOMEDCT_US_2015_03_01:9091006 UMLS_CUI:C0153212 disease_ontology Gonococcal iridocyclitis (disorder) SNOMEDCT_2005_07_31:9091006 gonococcal eye infectious disease DOID:9385 disease_ontology true lens-induced iridocyclitis DOID:9388 ICD10CM:H20.2 ICD9CM:364.23 Lens-induced iridocyclitis (disorder) SNOMEDCT_US_2015_03_01:70461003 UMLS_CUI:C0339320 disease_ontology Lens-induced iridocyclitis (disorder) SNOMEDCT_2005_07_31:70461003 infectious anterior uveitis DOID:9389 ICD10CM:H20.03 ICD9CM:364.03 Infectious secondary iridocyclitis (disorder) SNOMEDCT_US_2015_03_01:193487008 SNOMEDCT_US_2015_03_01:89114005 UMLS_CUI:C0154911 disease_ontology secondary infected iridocyclitis (disorder) secondary iridocyclitis, infectious Infectious secondary iridocyclitis (disorder) SNOMEDCT_2005_07_31:89114005 ICD9CM_2006:364.03 secondary iridocyclitis, infectious SNOMEDCT_2005_07_31:193487008 secondary infected iridocyclitis (disorder) tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. DOID:0050149 DOID:9391 DOID:9392 ICD10CM:J04.1 ICD9CM:464.1 MSH:D014136 SNOMEDCT_US_2015_03_01:155507000 SNOMEDCT_US_2015_03_01:195693005 SNOMEDCT_US_2015_03_01:26650005 SNOMEDCT_US_2015_03_01:62994001 Tracheitis (disorder) Tracheitis, NOS UMLS_CUI:C0040584 UMLS_CUI:C0149513 acute tracheitis acute tracheitis (disorder) acute tracheitis NOS (disorder) chronic tracheitis disease_ontology MTHICD9_2006:464.1 Tracheitis, NOS SNOMEDCT_2005_07_31:195693005 acute tracheitis NOS (disorder) SNOMEDCT_2005_07_31:62994001 Tracheitis (disorder) SNOMEDCT_2005_07_31:26650005 acute tracheitis (disorder) A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. url:http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh ICD9CM_2006:464.1 SNOMEDCT_2005_07_31:155507000 acute tracheitis croup A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. Croup (disorder) Croup syndrome DOID:9395 ICD10CM:J05.0 ICD9CM:464.4 Laryngotracheobronchitis MSH:D003440 NCI:C26735 SNOMEDCT_US_2015_03_01:155510007 SNOMEDCT_US_2015_03_01:195702002 SNOMEDCT_US_2015_03_01:71186008 UMLS_CUI:C0010380 acute Obstructive Laryngitis acute laryngotracheobronchitis disease_ontology A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false url:http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup SNOMEDCT_2005_07_31:195702002 acute laryngotracheobronchitis NCI2004_11_17:C26735 acute Obstructive Laryngitis SNOMEDCT_2005_07_31:155510007 acute laryngotracheobronchitis Croup syndrome MTHICD9_2006:464.4 Croup (disorder) SNOMEDCT_2005_07_31:71186008 acute laryngitis A laryngitis which lasts less than a few days. DOID:12334 DOID:9396 ICD10CM:J04.0 ICD9CM:464.0 ICD9CM:464.01 NCI:C26688 SNOMEDCT_US_2015_03_01:155506009 SNOMEDCT_US_2015_03_01:195690008 SNOMEDCT_US_2015_03_01:408669002 SNOMEDCT_US_2015_03_01:6655004 UMLS_CUI:C0001327 UMLS_CUI:C0949123 acute laryngitis with obstruction acute laryngitis with obstruction (disorder) disease_ontology A laryngitis which lasts less than a few days. url:http://en.wikipedia.org/wiki/Laryngitis SNOMEDCT_2005_07_31:408669002 acute laryngitis with obstruction (disorder) epiglottitis An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. DOID:9397 DOID:9398 DOID:9479 DOID:9481 Epiglottitis (disorder) ICD10CM:J05.1 ICD10CM:J05.10 ICD9CM:464.3 MSH:D004826 SNOMEDCT_US_2015_03_01:155509002 SNOMEDCT_US_2015_03_01:195701009 SNOMEDCT_US_2015_03_01:29608009 SNOMEDCT_US_2015_03_01:80384002 UMLS_CUI:C0014541 UMLS_CUI:C0155814 acute epiglottitis acute epiglottitis (disorder) acute epiglottitis NOS (disorder) acute epiglottitis and supraglottitis acute epiglottitis with obstruction acute epiglottitis with obstruction (disorder) acute epiglottitis without mention of obstruction acute epiglottitis without obstruction acute epiglottitis without obstruction (disorder) disease_ontology SNOMEDCT_2005_07_31:195701009 acute epiglottitis NOS (disorder) An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. url:http://en.wikipedia.org/wiki/Epiglottitis Epiglottitis (disorder) SNOMEDCT_2005_07_31:80384002 SNOMEDCT_2005_07_31:29608009 acute epiglottitis (disorder) SNOMEDCT_2005_07_31:222008 acute epiglottitis with obstruction (disorder) SNOMEDCT_2005_07_31:155509002 acute epiglottitis and supraglottitis SNOMEDCT_2005_07_31:49908003 acute epiglottitis without obstruction (disorder) ICD9CM_2006:464.30 acute epiglottitis without mention of obstruction epididymo-orchitis DOID:9401 ICD10CM:N45 ICD10CM:N45.3 ICD9CM:604 ICD9CM:604.90 SNOMEDCT_US_2015_03_01:155913003 SNOMEDCT_US_2015_03_01:155915005 SNOMEDCT_US_2015_03_01:155917002 SNOMEDCT_US_2015_03_01:197983000 SNOMEDCT_US_2015_03_01:198001001 SNOMEDCT_US_2015_03_01:198003003 SNOMEDCT_US_2015_03_01:198004009 SNOMEDCT_US_2015_03_01:24084007 UMLS_CUI:C0149881 disease_ontology epididymitis DOID:9402 ICD10CM:N45.1 MSH:D004823 SNOMEDCT_US_2015_03_01:155914009 SNOMEDCT_US_2015_03_01:197993007 SNOMEDCT_US_2015_03_01:197998003 SNOMEDCT_US_2015_03_01:31070006 UMLS_CUI:C0014534 disease_ontology isolated explosive disorder DOID:9403 disease_ontology true pituitary dwarfism DOID:9405 Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] Lorain - Levi dwarfism disease_ontology hypopituitary dwarfism true CSP2005:2715-1517 hypopituitary dwarfism Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] SNOMEDCT_2005_07_31:190476004 Lorain - Levi dwarfism SNOMEDCT_2005_07_31:302867007 hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. DOID:9406 ICD10CM:E23.0 MSH:D007018 NCI:C62591 OMIM:221750 OMIM:262600 OMIM:262700 OMIM:613038 OMIM:613986 ORDO:95494 Pituitary hypofunction Pituitary insufficiency NOS SNOMEDCT_US_2015_03_01:154703006 SNOMEDCT_US_2015_03_01:190469009 SNOMEDCT_US_2015_03_01:237681002 SNOMEDCT_US_2015_03_01:267482009 SNOMEDCT_US_2015_03_01:74728003 UMLS_CUI:C0020635 Xref MGI. disease_ontology pituitary hormone deficiency A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. url:http://en.wikipedia.org/wiki/Hypopituitarism Pituitary hypofunction SNOMEDCT_2005_07_31:154703006 MTHICD9_2006:253.2 Pituitary insufficiency NOS strictly posterior acute myocardial infarction DOID:9407 ICD9CM:410.60 UMLS_CUI:C0155652 disease_ontology acute myocardial infarction DOID:9408 ICD10CM:I21.3 ICD9CM:410 ICD9CM:410.9 ICD9CM:410.90 NCI:C35204 SNOMEDCT_US_2015_03_01:155304006 SNOMEDCT_US_2015_03_01:194796000 SNOMEDCT_US_2015_03_01:194811003 SNOMEDCT_US_2015_03_01:266288001 SNOMEDCT_US_2015_03_01:57054005 UMLS_CUI:C0155626 disease_ontology diabetes insipidus DOID:9409 ICD10CM:E23.2 ICD9CM:253.5 MSH:D003919 NCI:C43263 SNOMEDCT_US_2015_03_01:15771004 SNOMEDCT_US_2015_03_01:190484000 UMLS_CUI:C0011848 disease_ontology panhypopituitarism DOID:9410 ICD10CM:E23.0 ICD9CM:253.2 MSH:C580003 NCI:C110940 Panhypopituitarism (disorder) Panhypopituitarism NOS (disorder) SNOMEDCT_US_2015_03_01:154700009 SNOMEDCT_US_2015_03_01:190469009 SNOMEDCT_US_2015_03_01:190475000 SNOMEDCT_US_2015_03_01:267481002 SNOMEDCT_US_2015_03_01:32390006 Simmond's disease Simmonds' disease UMLS_CUI:C0242343 disease_ontology Panhypopituitarism (disorder) SNOMEDCT_2005_07_31:32390006 Panhypopituitarism NOS (disorder) SNOMEDCT_2005_07_31:190475000 SNOMEDCT_2005_07_31:190469009 Simmond's disease MTHICD9_2006:253.2 Simmonds' disease CSP2005:2335-9587 Simmonds' disease gonococcal endocarditis DOID:9411 Gonococcal endocarditis (disorder) disease_ontology true Gonococcal endocarditis (disorder) SNOMEDCT_2005_07_31:61048000 Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium DOID:9413 disease_ontology true abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium DOID:9414 disease_ontology true allergic asthma An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. DOID:9415 DOID:9416 DOID:9417 Extrinsic asthma with status asthmaticus (disorder) ICD10CM:J45 ICD9CM:493.0 SNOMEDCT_US_2015_03_01:155575009 SNOMEDCT_US_2015_03_01:16862005 SNOMEDCT_US_2015_03_01:195968006 SNOMEDCT_US_2015_03_01:195972005 SNOMEDCT_US_2015_03_01:233680000 SNOMEDCT_US_2015_03_01:266358007 SNOMEDCT_US_2015_03_01:266396008 SNOMEDCT_US_2015_03_01:389145006 SNOMEDCT_US_2015_03_01:389146007 UMLS_CUI:C0155877 atopic asthma disease_ontology extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus Extrinsic asthma with status asthmaticus (disorder) SNOMEDCT_2005_07_31:91340006 An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. url:http://www.aafa.org/display.cfm?id=8&sub=16 abscess of eyelid DOID:9422 abscess of eyelid (disorder) disease_ontology true SNOMEDCT_2005_07_31:76126009 abscess of eyelid (disorder) blepharitis An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. DOID:13824 DOID:9423 ICD10CM:H01.0 ICD10CM:H01.00 ICD10CM:H01.9 ICD9CM:373.0 ICD9CM:373.00 ICD9CM:373.4 ICD9CM:373.9 Infective dermatitis of eyelid of types resulting in deformity Infective eyelid dermatitis of types resulting in deformity (disorder) MSH:D001762 NCI:C112183 SNOMEDCT_US_2015_03_01:155170007 SNOMEDCT_US_2015_03_01:155171006 SNOMEDCT_US_2015_03_01:155175002 SNOMEDCT_US_2015_03_01:193907001 SNOMEDCT_US_2015_03_01:193908006 SNOMEDCT_US_2015_03_01:193909003 SNOMEDCT_US_2015_03_01:193910008 SNOMEDCT_US_2015_03_01:193920003 SNOMEDCT_US_2015_03_01:193925008 SNOMEDCT_US_2015_03_01:396712002 SNOMEDCT_US_2015_03_01:41446000 UMLS_CUI:C0005741 UMLS_CUI:C0155181 disease_ontology An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. url:http://en.wikipedia.org/wiki/Blepharitis Infective eyelid dermatitis of types resulting in deformity (disorder) SNOMEDCT_2005_07_31:193920003 tuberculous bronchiectasis A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. DOID:9426 disease_ontology true A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. url:http://chestjournal.chestpubs.org/content/22/1/46.full.pdf hypertensive encephalopathy DOID:9427 ICD10CM:I67.4 ICD9CM:437.2 MSH:D020343 NCI:C3503 SNOMEDCT_US_2015_03_01:155408008 SNOMEDCT_US_2015_03_01:195225002 SNOMEDCT_US_2015_03_01:50490005 UMLS_CUI:C0151620 disease_ontology intracranial hypertension DOID:9428 MSH:D019586 NCI:C84791 Raised intracranial pressure SNOMEDCT_US_2015_03_01:155052007 SNOMEDCT_US_2015_03_01:267701004 SNOMEDCT_US_2015_03_01:271719001 SNOMEDCT_US_2015_03_01:28073009 UMLS_CUI:C0151740 disease_ontology Raised intracranial pressure SNOMEDCT_2005_07_31:271719001 renal glycosuria DOID:9432 ICD10CM:E74.8 ICD9CM:271.4 MSH:D006030 OMIM mapping confirmed by DO. [SN]. OMIM:233100 SNOMEDCT_US_2015_03_01:154737003 SNOMEDCT_US_2015_03_01:190759004 SNOMEDCT_US_2015_03_01:1913007 SNOMEDCT_US_2015_03_01:236367002 SNOMEDCT_US_2015_03_01:267430007 SNOMEDCT_US_2015_03_01:367418000 UMLS_CUI:C0017980 disease_ontology renal diabetes MTHICD9_2006:271.4 renal diabetes chronic cholangitis DOID:9439 NCI:C35335 SNOMEDCT_US_2015_03_01:71912000 UMLS_CUI:C0267918 disease_ontology cervical mullerian papilloma DOID:9442 NCI:C40215 UMLS_CUI:C1516427 disease_ontology cervix blue nevus DOID:9443 disease_ontology true cervix squamous papilloma DOID:9445 NCI:C6342 UMLS_CUI:C1336900 disease_ontology squamous papilloma of the Cervix Uteri NCI2004_11_17:C6342 squamous papilloma of the Cervix Uteri cholangitis A bile duct disease that is an inflammation of the bile duct. DOID:9446 ICD10CM:K83.0 ICD9CM:576.1 MSH:D002761 NCI:C26718 SNOMEDCT_US_2015_03_01:155831003 SNOMEDCT_US_2015_03_01:197445007 SNOMEDCT_US_2015_03_01:82403002 UMLS_CUI:C0008311 disease_ontology A bile duct disease that is an inflammation of the bile duct. url:http://en.wikipedia.org/wiki/Cholangitis infectious disease of the breast and nipple associated with childbirth DOID:11281 DOID:12523 DOID:12963 DOID:13600 DOID:1437 DOID:1438 DOID:1879 DOID:1880 DOID:9450 disease_ontology true fatty liver disease A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. DOID:9451 DOID:9452 Fatty change of liver ICD10CM:K70.0 ICD9CM:571.0 MSH:D005234 MSH:D005235 PRISM. SNOMEDCT_US_2015_03_01:197321007 SNOMEDCT_US_2015_03_01:371330000 SNOMEDCT_US_2015_03_01:390002007 SNOMEDCT_US_2015_03_01:50325005 SNOMEDCT_US_2015_03_01:5360002 Steatosis of liver (disorder) UMLS_CUI:C0015695 UMLS_CUI:C0015696 alcoholic fatty liver disease_ontology hepatic lipidosis Fatty change of liver SNOMEDCT_2005_07_31:390002007 SNOMEDCT_2005_07_31:5360002 hepatic lipidosis SNOMEDCT_2005_07_31:197321007 Steatosis of liver (disorder) A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. url:http://en.wikipedia.org/wiki/Fatty_liver lipid storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. DOID:10583 DOID:9455 ICD10CM:E75.6 ICD9CM:272.7 ICD9CM:272.8 Lipoid storage diseas Lipoidosis MSH:D008064 SNOMEDCT_US_2015_03_01:10741005 SNOMEDCT_US_2015_03_01:11455007 SNOMEDCT_US_2015_03_01:154744007 SNOMEDCT_US_2015_03_01:190792005 SNOMEDCT_US_2015_03_01:190797004 SNOMEDCT_US_2015_03_01:190798009 SNOMEDCT_US_2015_03_01:190805007 SNOMEDCT_US_2015_03_01:267437005 SNOMEDCT_US_2015_03_01:267438000 UMLS_CUI:C0023794 UMLS_CUI:C0029591 disease_ontology inborn lipid storage disorder lipoidosis A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. url:http://en.wikipedia.org/wiki/Lipidoses Lipoid storage diseas MTHICD9_2006:272.7 Lipoidosis SNOMEDCT_2005_07_31:11455007 CSP2005:1849-5707 inborn lipid storage disorder isthmus cancer DOID:9459 ICD9CM:182.1 UMLS_CUI:C0153575 disease_ontology dientamoebiasis A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. DOID:13792 DOID:946 MSH:D004030 UMLS_CUI:C0012147 disease_ontology intestinal trichomoniasis A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. url:http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm uterine corpus cancer A uterine cancer that is located_in the uterine corpus. DOID:9460 ICD10CM:C54 ICD10CM:C54.9 ICD9CM:182 NCI:C3556 SNOMEDCT_US_2015_03_01:154526001 SNOMEDCT_US_2015_03_01:188194001 SNOMEDCT_US_2015_03_01:188200009 SNOMEDCT_US_2015_03_01:269600001 SNOMEDCT_US_2015_03_01:363442002 SNOMEDCT_US_2015_03_01:371972005 SNOMEDCT_US_2015_03_01:93718007 UMLS_CUI:C0153574 corpus uteri cancer disease_ontology A uterine cancer that is located_in the uterine corpus. url:http://en.wikipedia.org/wiki/Uterine_cancer url:http://en.wikipedia.org/wiki/Uterus exposure keratitis DOID:9461 Exposure keratoconjunctivitis ICD10CM:H16.21 ICD9CM:370.34 SNOMEDCT_US_2015_03_01:14366000 UMLS_CUI:C0339295 disease_ontology lagophthalmic keratitis SNOMEDCT_2005_07_31:14366000 lagophthalmic keratitis Exposure keratoconjunctivitis ICD9CM_2006:370.34 cholesteatoma of external ear A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. DOID:9462 ICD10CM:H60.4 ICD10CM:H60.40 ICD9CM:380.21 SNOMEDCT_US_2015_03_01:35247001 UMLS_CUI:C0155398 disease_ontology external canal cholesteatoma A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10993445 url:http://www.ncbi.nlm.nih.gov/sites/entrez/15763298 otitis externa An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. DOID:9463 DOID:9785 ICD9CM:380.1 ICD9CM:380.10 NCI:C3299 SNOMEDCT_US_2015_03_01:194198006 SNOMEDCT_US_2015_03_01:194199003 SNOMEDCT_US_2015_03_01:194214000 SNOMEDCT_US_2015_03_01:267752002 SNOMEDCT_US_2015_03_01:3135009 SNOMEDCT_US_2015_03_01:86981007 UMLS_CUI:C0021355 disease_ontology swimmer's ear An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. url:http://en.wikipedia.org/wiki/Otitis_externa nail-patella syndrome DOID:9467 Fong disease ICD10CM:Q87.2 MSH:D009261 NCI:C75120 OMIM mapping confirmed by DO. [SN]. OMIM:161200 SNOMEDCT_US_2015_03_01:22199006 Turner-Kiser syndrome UMLS_CUI:C0027341 disease_ontology hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome CSP2005:0726-3953 nail patella syndrome Salmonella meningitis DOID:9468 disease_ontology true bacterial meningitis DOID:9470 ICD10CM:G00 ICD10CM:G00.9 ICD9CM:320 ICD9CM:320.9 MSH:D016920 SNOMEDCT_US_2015_03_01:154984006 SNOMEDCT_US_2015_03_01:192662001 SNOMEDCT_US_2015_03_01:267680008 SNOMEDCT_US_2015_03_01:95883001 UMLS_CUI:C0085437 disease_ontology meningitis DOID:9471 DOID:9712 ICD10CM:G03 ICD10CM:G03.9 ICD9CM:322 ICD9CM:322.9 MSH:D008581 Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. NCI:C26828 SNOMEDCT_US_2015_03_01:154983000 SNOMEDCT_US_2015_03_01:192678004 SNOMEDCT_US_2015_03_01:192681009 SNOMEDCT_US_2015_03_01:7180009 UMLS_CUI:C0025289 disease_ontology Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. url:http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 mononeuritis of lower limb DOID:9473 ICD9CM:355 ICD9CM:355.8 SNOMEDCT_US_2015_03_01:155075000 SNOMEDCT_US_2015_03_01:193154003 SNOMEDCT_US_2015_03_01:62235007 UMLS_CUI:C0154747 disease_ontology Sheehan syndrome DOID:9476 ICD10CM:E23.0 MSH:D007018 NCI:C35300 Postpartum Hypopituitarism SNOMEDCT_US_2015_03_01:15045007 SNOMEDCT_US_2015_03_01:154703006 SNOMEDCT_US_2015_03_01:190469009 SNOMEDCT_US_2015_03_01:237684005 SNOMEDCT_US_2015_03_01:267482009 SNOMEDCT_US_2015_03_01:290653008 SNOMEDCT_US_2015_03_01:32390006 Sheehan's syndrome UMLS_CUI:C0242342 disease_ontology NCI2004_11_17:C35300 Postpartum Hypopituitarism SNOMEDCT_2005_07_31:154703006 Sheehan's syndrome pulmonary embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. DOID:9477 ICD10CM:I26 ICD10CM:I26.99 MSH:D011655 NCI:C50713 PRISM. SNOMEDCT_US_2015_03_01:155326007 SNOMEDCT_US_2015_03_01:194882001 SNOMEDCT_US_2015_03_01:266292008 SNOMEDCT_US_2015_03_01:59282003 UMLS_CUI:C0034065 disease_ontology pulmonary artery embolism pulmonary embolus MTHICD9_2006:415.1 pulmonary artery embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. url:http://en.wikipedia.org/wiki/Pulmonary_embolism url:http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html postpartum depression An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. DOID:9478 ICD10CM:F53 MSH:D019052 Maternity blues (disorder) NCI:C92852 SNOMEDCT_US_2015_03_01:147016002 SNOMEDCT_US_2015_03_01:154889000 SNOMEDCT_US_2015_03_01:191740008 SNOMEDCT_US_2015_03_01:192475007 SNOMEDCT_US_2015_03_01:268753005 SNOMEDCT_US_2015_03_01:58703003 UMLS_CUI:C0221074 disease_ontology postnatal depression CSP2005:5003-0032 postnatal depression Maternity blues (disorder) SNOMEDCT_2005_07_31:279225001 An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. url:http://en.wikipedia.org/wiki/Mood_disorder ulcerative blepharitis DOID:9483 ICD10CM:H01.01 ICD9CM:373.01 SNOMEDCT_US_2015_03_01:91662004 UMLS_CUI:C0155173 disease_ontology Meckel's diverticulum DOID:9487 ICD10CM:Q43.0 ICD9CM:751.0 MSH:D008467 Meckel Diverticulum NCI:C12264 OMIM mapping confirmed by DO. [SN]. OMIM:155140 Persistent vitelline duct SNOMEDCT_US_2015_03_01:127962001 SNOMEDCT_US_2015_03_01:156955000 SNOMEDCT_US_2015_03_01:204685004 SNOMEDCT_US_2015_03_01:204686003 SNOMEDCT_US_2015_03_01:204689005 SNOMEDCT_US_2015_03_01:204690001 SNOMEDCT_US_2015_03_01:253775007 SNOMEDCT_US_2015_03_01:264256006 SNOMEDCT_US_2015_03_01:37373007 UMLS_CUI:C0025037 disease_ontology MTHICD9_2006:751.0 Persistent vitelline duct Meckel Diverticulum NCI2004_11_17:C12264 chronic dacryoadenitis DOID:949 ICD10CM:H04.02 ICD9CM:375.02 SNOMEDCT_US_2015_03_01:4760008 UMLS_CUI:C0155224 disease_ontology unilateral hypoactive labyrinth DOID:9496 ICD9CM:386.53 SNOMEDCT_US_2015_03_01:194374008 SNOMEDCT_US_2015_03_01:81585005 UMLS_CUI:C0155517 disease_ontology pulmonary eosinophilia DOID:9498 ICD9CM:518.3 MSH:D011657 SNOMEDCT_US_2015_03_01:155623005 SNOMEDCT_US_2015_03_01:196145005 SNOMEDCT_US_2015_03_01:196147002 SNOMEDCT_US_2015_03_01:367542003 SNOMEDCT_US_2015_03_01:91053000 UMLS_CUI:C0034068 disease_ontology disseminated eosinophilic collagen disease DOID:9499 SNOMEDCT_US_2015_03_01:26328002 SNOMEDCT_US_2015_03_01:423486005 UMLS_CUI:C0263662 disease_ontology dacryoadenitis DOID:950 ICD10CM:H04.0 ICD10CM:H04.00 ICD9CM:375.0 ICD9CM:375.00 MSH:D003607 NCI:C26971 SNOMEDCT_US_2015_03_01:193971001 SNOMEDCT_US_2015_03_01:193973003 SNOMEDCT_US_2015_03_01:86927009 UMLS_CUI:C0155223 disease_ontology leukocyte disease DOID:9500 ICD10CM:D72.9 ICD9CM:288 ICD9CM:288.9 MSH:D007960 SNOMEDCT_US_2015_03_01:154829002 SNOMEDCT_US_2015_03_01:191369001 SNOMEDCT_US_2015_03_01:54097007 UMLS_CUI:C0023510 disease_ontology chronic eosinophilic pneumonia An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. Cryptogenic pulmonary eosinophilia (disorder) DOID:9502 NCI:C34471 SNOMEDCT_US_2015_03_01:233692000 UMLS_CUI:C0008680 disease_ontology Cryptogenic pulmonary eosinophilia (disorder) SNOMEDCT_2005_07_31:233692000 An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. url:http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html url:http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849 Loeffler syndrome An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. DOID:9503 ICD10CM:J82 Loeffler's pneumonia Loffler's syndrome MSH:D011657 NCI:C35301 SNOMEDCT_US_2015_03_01:123261002 SNOMEDCT_US_2015_03_01:64936001 UMLS_CUI:C0242459 disease_ontology An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome Loffler's syndrome MTHICD9_2006:518.3 benign mammary dysplasia DOID:9504 ICD9CM:610.8 UMLS_CUI:C0156319 disease_ontology cannabis abuse A substance abuse that involves the recurring use of cannabis despite negative consequences. DOID:2525 DOID:9505 ICD10CM:F12 ICD10CM:F12.1 ICD9CM:305.2 MSH:D002189 SNOMEDCT_US_2015_03_01:268769003 SNOMEDCT_US_2015_03_01:37344009 UMLS_CUI:C0006868 UMLS_CUI:C0024809 disease_ontology marijuana abuse A substance abuse that involves the recurring use of cannabis despite negative consequences. url:http://en.wikipedia.org/wiki/Cannabis_%28drug%29 CSP2005:0962-7919 marijuana abuse acute ethmoiditis A ethmoid sinusitis which lasts for less than 4 weeks. DOID:9506 ICD10CM:J01.2 ICD10CM:J01.20 ICD9CM:461.2 SNOMEDCT_US_2015_03_01:155501004 SNOMEDCT_US_2015_03_01:266378004 SNOMEDCT_US_2015_03_01:67832005 UMLS_CUI:C0155806 acute ethmoid sinusitis acute ethmoidal sinusitis disease_ontology ethmoidal sinus - acute A ethmoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html SNOMEDCT_2005_07_31:266378004 ethmoidal sinus - acute ICD9CM_2006:461.2 acute ethmoidal sinusitis ethmoid sinusitis A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. DOID:9507 ICD10CM:J32.2 MSH:D015521 NCI:C34597 SNOMEDCT_US_2015_03_01:18643000 UMLS_CUI:C0015029 disease_ontology ethmoidal sinusitis ethmoiditis NCI2004_11_17:C34597 ethmoidal sinusitis A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html toxic myopathy DOID:951 Toxic muscle disease disease_ontology true SNOMEDCT_2005_07_31:155097003 Toxic muscle disease simple chronic conjunctivitis DOID:9512 ICD10CM:H10.42 ICD9CM:372.11 SNOMEDCT_US_2015_03_01:193866007 SNOMEDCT_US_2015_03_01:8211008 UMLS_CUI:C0155146 disease_ontology plasmacytic leukemia DOID:9513 ICD10CM:C90.1 ICD10CM:C90.10 ICD9CM:203.1 MSH:D007952 NCI:C3180 SNOMEDCT_US_2015_03_01:128922003 SNOMEDCT_US_2015_03_01:154586003 SNOMEDCT_US_2015_03_01:188722001 SNOMEDCT_US_2015_03_01:190038002 SNOMEDCT_US_2015_03_01:190039005 SNOMEDCT_US_2015_03_01:269630009 SNOMEDCT_US_2015_03_01:39193004 SNOMEDCT_US_2015_03_01:95210003 UMLS_CUI:C0023484 disease_ontology multiple myeloma and immunoproliferative neoplasm DOID:9514 disease_ontology true abortion complicated by renal failure DOID:9518 disease_ontology true acute dacryoadenitis DOID:952 ICD10CM:H04.01 ICD9CM:375.01 SNOMEDCT_US_2015_03_01:2589008 UMLS_CUI:C0149505 disease_ontology Laron syndrome DOID:9521 ICD10CM:E34.3 Laron-type isolated somatotropin defect (disorder) MSH:D046150 OMIM mapping confirmed by DO. [SN]. OMIM:262500 SNOMEDCT_US_2015_03_01:38196001 UMLS_CUI:C0271568 disease_ontology Laron-type isolated somatotropin defect (disorder) SNOMEDCT_2005_07_31:38196001 acute renal failure with lesion of renal medullary necrosis DOID:9528 disease_ontology true Rhesus isoimmunisation affecting management of mother DOID:9530 disease_ontology true latent syphilis A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. DOID:12912 DOID:12913 DOID:9492 DOID:9531 ICD10CM:A53.0 ICD9CM:097.1 MSH:D013592 NCI:C35056 SNOMEDCT_US_2015_03_01:186906003 SNOMEDCT_US_2015_03_01:444150000 UMLS_CUI:C0039133 disease_ontology A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. url:http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. DOID:9534 ICD10CM:A15.0 ICD9CM:011.7 ICD9CM:011.70 SNOMEDCT_US_2015_03_01:29731002 UMLS_CUI:C0152600 disease_ontology A pneumothorax in which air enters into the pleural cavity. url:http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false Arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. DOID:4185 DOID:9535 american hemorrhagic fever arenaviral hemorrhagic fever disease_ontology true A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. url:http://en.wikipedia.org/wiki/Hemorrhagic_fever url:http://jama.ama-assn.org/cgi/reprint/287/18/2391 Lassa fever A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. DOID:9537 ICD10CM:A96.2 MSH:D007835 SNOMEDCT_US_2015_03_01:19065005 UMLS_CUI:C0023092 disease_ontology A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm multiple myeloma A myeloma that is located_in the plasma cells in bone marrow. DOID:9538 EFO:0001378 ICD10CM:C90.0 ICD10CM:C90.00 ICD9CM:203.0 MSH:D009101 NCI:C3242 OMIM mapping confirmed by DO. [SN]. OMIM:254500 SNOMEDCT_US_2015_03_01:109989006 SNOMEDCT_US_2015_03_01:154585004 SNOMEDCT_US_2015_03_01:55921005 SNOMEDCT_US_2015_03_01:94705007 UMLS_CUI:C0026764 disease_ontology plasma cell myeloma A myeloma that is located_in the plasma cells in bone marrow. url:http://en.wikipedia.org/wiki/Multiple_myeloma url:http://www.cancer.gov/dictionary?CdrID=411384 vascular skin disease DOID:9540 ICD9CM:709.1 MSH:D017445 NCI:C35254 SNOMEDCT_US_2015_03_01:11263005 SNOMEDCT_US_2015_03_01:201306008 SNOMEDCT_US_2015_03_01:267820009 UMLS_CUI:C0162819 disease_ontology osteosclerotic myeloma DOID:9541 NCI:C7765 SNOMEDCT_US_2015_03_01:42215000 SNOMEDCT_US_2015_03_01:425657001 UMLS_CUI:C1510415 disease_ontology plasma cell myeloma PTLD DOID:9543 disease_ontology true refractory plasma cell neoplasm DOID:9544 NCI:C7024 NCI:C7813 UMLS_CUI:C0278620 disease_ontology recurrent plasma cell neoplasm DOID:9545 disease_ontology true non-secretory myeloma DOID:9547 NCI:C4734 SNOMEDCT_US_2015_03_01:277580004 UMLS_CUI:C0456845 disease_ontology benign neurilemmoma DOID:955 UMLS_CUI:C0854906 disease_ontology indolent myeloma DOID:9550 NCI:C7150 UMLS_CUI:C1334169 disease_ontology smoldering myeloma A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. DOID:9551 disease_ontology A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. url:http://www.cancer.gov/dictionary/?CdrID=413932 adrenal gland hypofunction DOID:9552 disease_ontology true adrenal gland disease An endocrine system disease that is located_in the adrenal gland. DOID:9553 ICD10CM:E27.9 ICD9CM:255 ICD9CM:255.9 MSH:D000307 NCI:C26690 SNOMEDCT_US_2015_03_01:154704000 SNOMEDCT_US_2015_03_01:190532009 SNOMEDCT_US_2015_03_01:30171000 UMLS_CUI:C0001621 disease_ontology An endocrine system disease that is located_in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_gland_disease peripheral nerve schwannoma DOID:956 NCI:C41430 UMLS_CUI:C1519001 disease_ontology nasopharyngeal disease DOID:9561 MSH:D009302 NCI:C35723 SNOMEDCT_US_2015_03_01:123952009 UMLS_CUI:C0027438 disease_ontology disorder of nasopharynx (disorder) SNOMEDCT_2005_07_31:123952009 disorder of nasopharynx (disorder) primary ciliary dyskinesia A ciliopathy that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. DOID:2925 DOID:9562 MSH:D002925 NCI:C84638 OMIM:244400 OMIM:606763 OMIM:608644 OMIM:608646 OMIM:608647 OMIM:610852 OMIM:611884 OMIM:612274 OMIM:612444 OMIM:612518 OMIM:612649 OMIM:612650 OMIM:613193 OMIM:613807 OMIM:613808 OMIM:614017 OMIM:614679 OMIM:614874 OMIM:614935 OMIM:615067 OMIM:615294 OMIM:615444 OMIM:615451 OMIM:615481 OMIM:615482 OMIM:615500 OMIM:615504 OMIM:615505 OMIM:615872 OMIM:616037 OMIM:616369 OMIM:616481 SNOMEDCT_US_2015_03_01:86204009 SNOMEDCT_US_2015_03_01:9057007 UMLS_CUI:C0008780 Xref MGI. OMIM mapping confirmed by DO. [SN]. ciliary motility disorder disease_ontology immotile ciliary syndrome A ciliopathy that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. DOID:11046 DOID:11047 DOID:9563 DOID:9571 ICD10CM:J47 ICD10CM:J47.9 ICD9CM:494 MSH:D001987 NCI:C84475 OMIM:211400 OMIM:613021 OMIM:613071 ORDO:60033 Polynesian bronchiectasis SNOMEDCT_US_2015_03_01:12295008 SNOMEDCT_US_2015_03_01:155580000 SNOMEDCT_US_2015_03_01:195986009 UMLS_CUI:C0006267 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. url:http://www.merck.com/mmhe/sec04/ch047/ch047a.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis dextrocardia DOID:9565 Heart predominantly in right hemithorax ICD10CM:Q24.0 MSH:D003914 NCI:C84669 SNOMEDCT_US_2015_03_01:156925007 SNOMEDCT_US_2015_03_01:27637000 UMLS_CUI:C0011813 disease_ontology Heart predominantly in right hemithorax SNOMEDCT_2005_07_31:156925007 choanal atresia Atresia of nares DOID:14713 DOID:9574 ICD10CM:Q30.0 ICD9CM:748.0 Imperforate nares MSH:C562435 MSH:D002754 OMIM mapping confirmed by DO. [SN]. OMIM:608911 SNOMEDCT_US_2015_03_01:14988006 SNOMEDCT_US_2015_03_01:156934002 SNOMEDCT_US_2015_03_01:204508009 SNOMEDCT_US_2015_03_01:204509001 SNOMEDCT_US_2015_03_01:204514002 SNOMEDCT_US_2015_03_01:53458004 UMLS_CUI:C0008297 UMLS_CUI:C0220723 disease_ontology posterior choanal atresia Atresia of nares MTHICD9_2006:748.0 Imperforate nares SNOMEDCT_2005_07_31:53458004 neonatal candidiasis A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. DOID:9577 ICD10CM:P37.5 ICD9CM:771.7 Neonatal Candida infection Neonatal candida infection Neonatal monilia infection (disorder) SNOMEDCT_US_2015_03_01:157121009 SNOMEDCT_US_2015_03_01:206362009 SNOMEDCT_US_2015_03_01:3973009 SNOMEDCT_US_2015_03_01:414821002 UMLS_CUI:C0276682 disease_ontology neonatal moniliasis Neonatal candida infection SNOMEDCT_2005_07_31:157121009 Neonatal monilia infection (disorder) SNOMEDCT_2005_07_31:3973009 ICD9CM_2006:771.7 Neonatal Candida infection A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. url:http://emedicine.medscape.com/article/1090632-overview url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Pseudomonas septicemia DOID:9579 disease_ontology true Venezuelan equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. DOID:9584 ICD10CM:A92.2 ICD9CM:066.2 MSH:D004685 NCI:C35121 SNOMEDCT_US_2015_03_01:417067005 SNOMEDCT_US_2015_03_01:417702007 SNOMEDCT_US_2015_03_01:89990001 UMLS_CUI:C0014078 Venezuelan equine fever disease_ontology A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm ICD9CM_2006:066.2 Venezuelan equine fever equine encephalitis An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. DOID:9585 disease_ontology true An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. url:http://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html encephalitis DOID:2160 DOID:9588 Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. MSH:D004660 NCI:C26760 SNOMEDCT_US_2015_03_01:192736002 SNOMEDCT_US_2015_03_01:267578009 SNOMEDCT_US_2015_03_01:267682000 SNOMEDCT_US_2015_03_01:45170000 UMLS_CUI:C0014038 disease_ontology Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. url:http://en.wikipedia.org/wiki/Encephalitis url:http://www.nlm.nih.gov/medlineplus/encephalitis.html urethral calculus DOID:9589 ICD10CM:N21.1 ICD9CM:594.2 NCI:C26995 SNOMEDCT_US_2015_03_01:155880008 SNOMEDCT_US_2015_03_01:20342001 UMLS_CUI:C0162301 disease_ontology urethral Stone NCI2004_11_17:C26995 urethral Stone esophagus squamous cell papilloma DOID:959 NCI:C5344 UMLS_CUI:C1333467 disease_ontology lower urinary tract calculus A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. DOID:9590 ICD10CM:N21 ICD10CM:N21.9 ICD9CM:594 ICD9CM:594.9 SNOMEDCT_US_2015_03_01:155878002 SNOMEDCT_US_2015_03_01:155881007 SNOMEDCT_US_2015_03_01:197828005 SNOMEDCT_US_2015_03_01:197832004 SNOMEDCT_US_2015_03_01:79509009 UMLS_CUI:C0156264 disease_ontology A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. url:http://en.wikipedia.org/wiki/Calculus_%28medicine%29 ovarian metastasis DOID:9594 disease_ontology metastasis to ovary true SNOMEDCT_2005_07_31:154573007 metastasis to ovary Krukenberg carcinoma DOID:9597 Krukenberg neoplasm Krukenberg tumor MSH:D007725 NCI:C3153 SNOMEDCT_US_2015_03_01:359987004 SNOMEDCT_US_2015_03_01:4305004 SNOMEDCT_US_2015_03_01:94455000 UMLS_CUI:C0022790 disease_ontology Krukenberg neoplasm NCI2004_11_17:C3153 fasciitis DOID:9598 ICD10CM:M72.9 ICD9CM:729.4 MSH:D005208 NCI:C50559 SNOMEDCT_US_2015_03_01:203123000 SNOMEDCT_US_2015_03_01:36948007 UMLS_CUI:C0015645 disease_ontology proliferative fasciitis DOID:9599 NCI:C4728 SNOMEDCT_US_2015_03_01:254737002 SNOMEDCT_US_2015_03_01:35548007 UMLS_CUI:C0432528 disease_ontology staphyloenterotoxemia A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. DOID:96 ICD10CM:A05.0 ICD9CM:005.0 MSH:D013202 NCI:C35037 SNOMEDCT_US_2015_03_01:84622004 Staphylococcal food poisoning Staphylococcal toxaemia due to food UMLS_CUI:C0038159 disease_ontology staphyloenterotoxicosis SNOMEDCT_2005_07_31:84622004 Staphylococcal toxaemia due to food A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070015.htm url:http://www.in.gov/isdh/22420.htm ICD9CM_2006:005.0 Staphylococcal food poisoning esophagus leiomyoma DOID:960 NCI:C3866 SNOMEDCT_US_2015_03_01:276805005 UMLS_CUI:C0238114 disease_ontology plantar fasciitis DOID:9600 ICD10CM:M72.2 MSH:D036981 SNOMEDCT_US_2015_03_01:156725003 SNOMEDCT_US_2015_03_01:202882003 SNOMEDCT_US_2015_03_01:203056001 SNOMEDCT_US_2015_03_01:2482001 UMLS_CUI:C0149756 disease_ontology ischemic fasciitis Atypical Decubital Fibroplasia DOID:9601 NCI:C6483 SNOMEDCT_US_2015_03_01:403990005 UMLS_CUI:C1304514 disease_ontology Atypical Decubital Fibroplasia NCI2004_11_17:C6483 necrotizing fasciitis DOID:9602 ICD10CM:M72.6 ICD9CM:728.86 MSH:D019115 NCI:C84916 SNOMEDCT_US_2015_03_01:186428007 SNOMEDCT_US_2015_03_01:52486002 UMLS_CUI:C0238124 disease_ontology intravascular fasciitis DOID:9603 Intravascular Pseudosarcomatous Fasciitis NCI:C4729 SNOMEDCT_US_2015_03_01:254738007 UMLS_CUI:C0432529 disease_ontology Intravascular Pseudosarcomatous Fasciitis NCI2004_11_17:C4729 neurofibroma of the esophagus DOID:961 NCI:C5704 UMLS_CUI:C1333463 disease_ontology orthostatic proteinuria DOID:9617 ICD10CM:R80.2 ICD9CM:593.6 Postural albuminuria SNOMEDCT_US_2015_03_01:155874000 SNOMEDCT_US_2015_03_01:32482005 SNOMEDCT_US_2015_03_01:77872002 SNOMEDCT_US_2015_03_01:78719009 UMLS_CUI:C0232867 disease_ontology Postural albuminuria SNOMEDCT_2005_07_31:77872002 neurofibroma DOID:962 MSH:D009455 NCI:C3272 SNOMEDCT_US_2015_03_01:115242003 SNOMEDCT_US_2015_03_01:134214003 SNOMEDCT_US_2015_03_01:189947001 SNOMEDCT_US_2015_03_01:404029005 SNOMEDCT_US_2015_03_01:89084002 UMLS_CUI:C0027830 disease_ontology vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. DOID:9620 ICD10CM:N13.7 ICD10CM:N13.70 ICD9CM:593.7 MSH:D014718 NCI:C84467 OMIM:193000 OMIM:314550 OMIM:610878 OMIM:613674 OMIM:614317 OMIM:614318 OMIM:614319 OMIM:614674 OMIM:615390 OMIM:615963 ORDO:289365 SNOMEDCT_US_2015_03_01:155875004 SNOMEDCT_US_2015_03_01:197811007 SNOMEDCT_US_2015_03_01:251994004 SNOMEDCT_US_2015_03_01:26836002 UMLS_CUI:C0042580 Xref MGI. OMIM mapping confirmed by DO. [LS]. disease_ontology vesico-ureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. url:http://en.wikipedia.org/wiki/Vesicoureteral_reflux url:http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux url:http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956 non-congenital cyst of kidney DOID:9621 ICD10CM:N28.1 ICD9CM:593.2 SNOMEDCT_US_2015_03_01:105999006 SNOMEDCT_US_2015_03_01:155872001 SNOMEDCT_US_2015_03_01:197803002 SNOMEDCT_US_2015_03_01:266625006 UMLS_CUI:C0268799 disease_ontology kidney hypertrophy DOID:9622 ICD10CM:N28.81 ICD9CM:593.1 SNOMEDCT_US_2015_03_01:197800004 SNOMEDCT_US_2015_03_01:88531004 UMLS_CUI:C0156259 disease_ontology episodic ataxia A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. DOID:963 Isaacs syndrome MSH:C580065 ORDO:211062 SNOMEDCT_US_2015_03_01:421455009 UMLS_CUI:C1720189 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI. disease_ontology A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. url:http://en.wikipedia.org/wiki/Episodic_ataxia url:http://ghr.nlm.nih.gov/condition/episodic-ataxia genetic anomaly of leucocyte DOID:9630 disease_ontology true Pelger-Huet anomaly DOID:9631 MSH:D010381 NCI:C85002 OMIM mapping confirmed by DO. [SN]. OMIM:169400 SNOMEDCT_US_2015_03_01:191356000 SNOMEDCT_US_2015_03_01:85559002 UMLS_CUI:C0030779 disease_ontology stomatitis DOID:9637 ICD10CM:K12.1 MSH:D013280 NCI:C26887 SNOMEDCT_US_2015_03_01:155660009 SNOMEDCT_US_2015_03_01:196527002 SNOMEDCT_US_2015_03_01:61170000 SNOMEDCT_US_2015_03_01:95361005 UMLS_CUI:C0038362 disease_ontology sarcocystosis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. DOID:9640 ICD10CM:A07.8 ICD9CM:136.5 MSH:D012523 SNOMEDCT_US_2015_03_01:88905005 Sarcosporidiosis UMLS_CUI:C0036231 disease_ontology ICD9CM_2006:136.5 Sarcosporidiosis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf url:http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm rheumatic chorea DOID:9641 DOID:9642 DOID:9813 Sydenham's chorea chorea minor disease_ontology true CSP2005:2057-3299 chorea minor babesiosis A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. Babesiasis DOID:9643 ICD10CM:B60.0 ICD9CM:088.82 Infection by babesia MSH:D001404 NCI:C84581 SNOMEDCT_US_2015_03_01:187241002 SNOMEDCT_US_2015_03_01:21061004 SNOMEDCT_US_2015_03_01:276204002 UMLS_CUI:C0004576 disease_ontology piroplasmosis A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. url:http://en.wikipedia.org/wiki/Babesiosis CSP2005:2214-4957 piroplasmosis Infection by babesia SNOMEDCT_2005_07_31:276204002 Babesiasis MTHICD9_2006:088.82 obstructed labor DOID:1298 DOID:1299 DOID:1300 DOID:9647 disease_ontology true congenital nystagmus A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. DOID:9649 ICD10CM:H55.01 ICD9CM:379.51 MSH:D020417 OMIM:164100 OMIM:193003 OMIM:300589 OMIM:300814 OMIM:608345 OMIM:610700 OMIM:614826 ORDO:651 SNOMEDCT_US_2015_03_01:155205009 SNOMEDCT_US_2015_03_01:194173005 SNOMEDCT_US_2015_03_01:267750005 SNOMEDCT_US_2015_03_01:64635004 UMLS_CUI:C0700501 Xref MGI. disease_ontology A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. url:http://en.wikipedia.org/wiki/Nystagmus url:http://ghr.nlm.nih.gov/glossary=nystagmus url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669 pathologic nystagmus DOID:9650 ICD10CM:H55.0 ICD10CM:H55.00 ICD9CM:379.50 MSH:D009759 NCI:C3282 SNOMEDCT_US_2015_03_01:155205009 SNOMEDCT_US_2015_03_01:194171007 SNOMEDCT_US_2015_03_01:194172000 SNOMEDCT_US_2015_03_01:267750005 SNOMEDCT_US_2015_03_01:563001 UMLS_CUI:C0028738 disease_ontology systolic heart failure DOID:9651 ICD10CM:I50.20 ICD9CM:428.2 ICD9CM:428.20 MSH:D054143 SNOMEDCT_US_2015_03_01:417996009 UMLS_CUI:C1135191 disease_ontology Pre-eclampsia or eclampsia superimposed on pre-existing hypertension DOID:10855 DOID:14078 DOID:9652 DOID:9653 disease_ontology true hypertension complicating pregnancy, childbirth and the puerperium DOID:13703 DOID:9654 DOID:9844 DOID:9845 disease_ontology true oral mucosa leukoplakia DOID:9655 ICD10CM:K13.2 ICD10CM:K13.21 ICD9CM:528.6 UMLS_CUI:C1112530 disease_ontology aphthous stomatitis A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. Aphtha (morphologic abnormality) Aphthous ulceration (disorder) Canker sore DOID:9663 ICD9CM:528.2 MSH:D013281 NCI:C62546 Oral aphthae Oral aphthous ulcer SNOMEDCT_US_2015_03_01:110426005 SNOMEDCT_US_2015_03_01:155661008 SNOMEDCT_US_2015_03_01:196529004 SNOMEDCT_US_2015_03_01:196534000 SNOMEDCT_US_2015_03_01:196536003 SNOMEDCT_US_2015_03_01:303117009 SNOMEDCT_US_2015_03_01:321258009 SNOMEDCT_US_2015_03_01:322224003 SNOMEDCT_US_2015_03_01:367526005 SNOMEDCT_US_2015_03_01:398870000 SNOMEDCT_US_2015_03_01:426965005 SNOMEDCT_US_2015_03_01:83312008 UMLS_CUI:C0038363 disease_ontology oral ulcer ICD9CM_2006:528.2 Oral aphthae Aphtha (morphologic abnormality) SNOMEDCT_2005_07_31:110426005 Aphthous ulceration (disorder) SNOMEDCT_2005_07_31:321258009 A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. url:http://en.wikipedia.org/wiki/Aphthous_stomatitis Oral aphthous ulcer SNOMEDCT_2005_07_31:155661008 Canker sore MTHICD9_2006:528.2 placental abruption A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. DOID:12976 DOID:12977 DOID:13233 DOID:13234 DOID:13587 DOID:13627 DOID:14406 DOID:9666 DOID:9667 ICD10CM:O20.0 ICD9CM:640.0 ICD9CM:640.03 MSH:D000033 NCI:C112857 PRISM. SNOMEDCT_US_2015_03_01:156098004 SNOMEDCT_US_2015_03_01:198882006 SNOMEDCT_US_2015_03_01:198885008 SNOMEDCT_US_2015_03_01:22689002 SNOMEDCT_US_2015_03_01:54048003 UMLS_CUI:C0000821 abruptio placenta abruptio placentae disease_ontology CSP2005:2403-9411 abruptio placentae A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. url:http://en.wikipedia.org/wiki/Abruptio_placentae senile cataract DOID:9669 ICD10CM:H25 ICD9CM:366.1 ICD9CM:366.10 NCI:C35012 SNOMEDCT_US_2015_03_01:155127007 SNOMEDCT_US_2015_03_01:193582000 SNOMEDCT_US_2015_03_01:193583005 SNOMEDCT_US_2015_03_01:193594009 SNOMEDCT_US_2015_03_01:39450006 UMLS_CUI:C0036646 disease_ontology noma Cancrum oris DOID:9672 Gangrenous stomatitis ICD10CM:A69.0 ICD9CM:528.1 MSH:D009625 NCI:C34852 SNOMEDCT_US_2015_03_01:18116006 SNOMEDCT_US_2015_03_01:196528007 SNOMEDCT_US_2015_03_01:266427007 SNOMEDCT_US_2015_03_01:399050001 UMLS_CUI:C0028271 disease_ontology Gangrenous stomatitis MTHICD9_2006:528.1 Cancrum oris ICD9CM_2006:528.1 ulcerative stomatitis DOID:9673 ICD10CM:K12.1 MSH:D005892 NCI:C35039 SNOMEDCT_US_2015_03_01:450005 UMLS_CUI:C0038367 disease_ontology pulmonary emphysema DOID:9675 ICD10CM:J43.8 ICD9CM:492.8 SNOMEDCT_US_2015_03_01:195962007 SNOMEDCT_US_2015_03_01:195965009 SNOMEDCT_US_2015_03_01:196230005 SNOMEDCT_US_2015_03_01:266357002 UMLS_CUI:C0029607 disease_ontology cervical incompetence complicating pregnancy, childbirth, or the puerperium DOID:9678 disease_ontology true cervical incompetence A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. DOID:9681 ICD10CM:N88.3 ICD9CM:622.5 MSH:D002581 NCI:C50607 SNOMEDCT_US_2015_03_01:156172008 SNOMEDCT_US_2015_03_01:157049000 SNOMEDCT_US_2015_03_01:17382005 SNOMEDCT_US_2015_03_01:199480002 SNOMEDCT_US_2015_03_01:199481003 SNOMEDCT_US_2015_03_01:199486008 SNOMEDCT_US_2015_03_01:36836005 UMLS_CUI:C0007871 disease_ontology A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. url:http://en.wikipedia.org/wiki/Cervical_incompetence yellow fever A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. DOID:9682 DOID:9683 DOID:9684 ICD10CM:A95 ICD10CM:A95.9 ICD9CM:060 ICD9CM:060.9 MSH:D015004 NCI:C35547 SNOMEDCT_US_2015_03_01:154345006 SNOMEDCT_US_2015_03_01:16541001 SNOMEDCT_US_2015_03_01:186587002 SNOMEDCT_US_2015_03_01:187411002 SNOMEDCT_US_2015_03_01:266194002 Sylvatic yellow fever UMLS_CUI:C0043395 Yellow fever, sylvan disease_ontology jungle yellow fever urban yellow fever MTHICD9_2006:060.0 Yellow fever, sylvan A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. url:http://en.wikipedia.org/wiki/Yellow_fever url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_FactSheet.html url:http://www.who.int/mediacentre/factsheets/fs100/en/index.html ICD9CM_2006:060.0 Sylvatic yellow fever toxic myocarditis DOID:9694 ICD9CM:422.93 SNOMEDCT_US_2015_03_01:31993003 UMLS_CUI:C0155691 disease_ontology gonococcal keratitis DOID:9697 ICD10CM:A54.33 ICD9CM:098.43 SNOMEDCT_US_2015_03_01:186924001 SNOMEDCT_US_2015_03_01:40149008 UMLS_CUI:C0153214 disease_ontology gonococcal endophthalmia DOID:9698 ICD10CM:A54.39 ICD9CM:098.42 SNOMEDCT_US_2015_03_01:111807001 SNOMEDCT_US_2015_03_01:186923007 UMLS_CUI:C0153213 disease_ontology ophthalmia neonatorum DOID:10601 DOID:9699 Gonococcal conjunctivitis (neonatorum) Gonococcal ophthalmia neonatorum ICD10CM:P39.1 ICD9CM:098.40 ICD9CM:771.6 MSH:D009878 Neonatal conjunctivitis SNOMEDCT_US_2015_03_01:157120005 SNOMEDCT_US_2015_03_01:206345004 SNOMEDCT_US_2015_03_01:206354001 SNOMEDCT_US_2015_03_01:28438004 SNOMEDCT_US_2015_03_01:34298002 SNOMEDCT_US_2015_03_01:80881003 UMLS_CUI:C0027611 UMLS_CUI:C0029076 disease_ontology Gonococcal conjunctivitis (neonatorum) ICD9CM_2006:098.40 Neonatal conjunctivitis SNOMEDCT_2005_07_31:157120005 Gonococcal ophthalmia neonatorum MTHICD9_2006:098.40 tenosynovitis DOID:970 Inflammation of tendon sheath MSH:D013717 SNOMEDCT_US_2015_03_01:156666009 SNOMEDCT_US_2015_03_01:240035004 SNOMEDCT_US_2015_03_01:268092005 SNOMEDCT_US_2015_03_01:67801009 UMLS_CUI:C0039520 disease_ontology Inflammation of tendon sheath SNOMEDCT_2005_07_31:240035004 bacterial conjunctivitis DOID:9700 ICD10CM:H10.0 MSH:D003234 NCI:C53656 Purulent conjunctivitis (disorder) SNOMEDCT_US_2015_03_01:128350005 SNOMEDCT_US_2015_03_01:17482009 SNOMEDCT_US_2015_03_01:193877001 SNOMEDCT_US_2015_03_01:243321006 SNOMEDCT_US_2015_03_01:243462001 UMLS_CUI:C0009768 disease_ontology Purulent conjunctivitis (disorder) SNOMEDCT_2005_07_31:243321006 rosacea conjunctivitis DOID:9709 ICD9CM:372.31 SNOMEDCT_US_2015_03_01:10128002 UMLS_CUI:C0155152 disease_ontology tendinitis DOID:971 ICD10CM:M77.9 MSH:D052256 NCI:C97141 SNOMEDCT_US_2015_03_01:156665008 SNOMEDCT_US_2015_03_01:202893001 SNOMEDCT_US_2015_03_01:267996008 SNOMEDCT_US_2015_03_01:268091003 SNOMEDCT_US_2015_03_01:312785002 SNOMEDCT_US_2015_03_01:34840004 UMLS_CUI:C0039503 disease_ontology occlusion of gallbladder DOID:9714 ICD10CM:K82.0 ICD9CM:575.2 NCI:C78308 Obstruction of gallbladder SNOMEDCT_US_2015_03_01:197415009 SNOMEDCT_US_2015_03_01:197416005 SNOMEDCT_US_2015_03_01:197420009 SNOMEDCT_US_2015_03_01:75726005 UMLS_CUI:C0156214 disease_ontology ICD9CM_2006:575.2 Obstruction of gallbladder hydrops of gallbladder DOID:9717 ICD10CM:K82.1 ICD9CM:575.3 SNOMEDCT_US_2015_03_01:197421008 SNOMEDCT_US_2015_03_01:47312008 UMLS_CUI:C0152445 disease_ontology meningococcal myocarditis DOID:9718 disease_ontology true proliferative vitreoretinopathy DOID:9719 MSH:D018630 Retinitis proliferans SNOMEDCT_US_2015_03_01:193364004 SNOMEDCT_US_2015_03_01:232016005 UMLS_CUI:C0242852 disease_ontology Retinitis proliferans SNOMEDCT_2005_07_31:193364004 malignant neoplasm of cerebrum except lobes and ventricles DOID:972 disease_ontology true vitreous disease An eye and adnexa disease that is located in the vitreous of the eye. DOID:9720 ICD10CM:H43.3 ICD10CM:H43.39 ICD9CM:379.24 SNOMEDCT_US_2015_03_01:194154006 SNOMEDCT_US_2015_03_01:194636006 UMLS_CUI:C0029872 disease_ontology An eye and adnexa disease that is located in the vitreous of the eye. url:http://www.sw.org/eye-institute/retinal-vitreous-diseases ophthalmia nodosa DOID:9722 ICD10CM:H16.24 ICD9CM:360.14 SNOMEDCT_US_2015_03_01:12371008 UMLS_CUI:C0154775 disease_ontology vitreous abscess DOID:9723 ICD9CM:360.04 SNOMEDCT_US_2015_03_01:48142003 UMLS_CUI:C0042904 disease_ontology purulent endophthalmitis DOID:9724 ICD10CM:H44.0 ICD10CM:H44.00 ICD9CM:360.0 ICD9CM:360.00 SNOMEDCT_US_2015_03_01:193267009 SNOMEDCT_US_2015_03_01:193271007 SNOMEDCT_US_2015_03_01:41720003 UMLS_CUI:C0259800 disease_ontology vitreous detachment DOID:9726 ICD10CM:H43.81 MSH:D020255 NCI:C50807 SNOMEDCT_US_2015_03_01:155202007 SNOMEDCT_US_2015_03_01:267747007 SNOMEDCT_US_2015_03_01:393583008 SNOMEDCT_US_2015_03_01:53772007 UMLS_CUI:C0042907 disease_ontology vitreous membranes and strands DOID:9728 disease_ontology true crystalline deposits in vitreous DOID:9729 disease_ontology true renal tuberculosis An urogenital tuberculosis that results_in formation of granulomas located_in kidney. DOID:9733 ICD9CM:016.0 ICD9CM:016.00 MSH:D014398 SNOMEDCT_US_2015_03_01:186236001 SNOMEDCT_US_2015_03_01:44323002 Tuberculosis of kidney UMLS_CUI:C0041328 disease_ontology An urogenital tuberculosis that results_in formation of granulomas located_in kidney. url:http://emedicine.medscape.com/article/450651-overview ICD9CM_2006:016.0 Tuberculosis of kidney urinary tuberculosis DOID:9734 disease_ontology true acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. DOID:9735 ICD9CM:381.05 SNOMEDCT_US_2015_03_01:194242003 SNOMEDCT_US_2015_03_01:8326008 UMLS_CUI:C0155419 disease_ontology A blue drum syndrome caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. DOID:9736 ICD9CM:381.02 SNOMEDCT_US_2015_03_01:52353000 UMLS_CUI:C0395863 acute mucoid otitis media disease_ontology A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. url:http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false ICD9CM_2006:381.02 acute mucoid otitis media eustachian tube disease A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. DOID:9739 ICD9CM:381.8 ICD9CM:381.89 SNOMEDCT_US_2015_03_01:194277003 SNOMEDCT_US_2015_03_01:194278008 UMLS_CUI:C0155435 disease_ontology A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false upper respiratory tract disease A respiratory system disease which involves the upper respiratory tract. DOID:974 ICD9CM:478.1 ICD9CM:478.19 SNOMEDCT_US_2015_03_01:195823002 SNOMEDCT_US_2015_03_01:266346007 UMLS_CUI:C0029581 disease_ontology A respiratory system disease which involves the upper respiratory tract. url:http://en.wikipedia.org/wiki/Category:Upper_respiratory_tract_diseases url:http://www.who.int/topics/respiratory_tract_diseases/en/ postcholecystectomy syndrome DOID:9740 ICD10CM:K91.5 ICD9CM:576.0 MSH:D017562 SNOMEDCT_US_2015_03_01:90782003 UMLS_CUI:C0152099 disease_ontology biliary tract disease DOID:9741 ICD10CM:K83.9 ICD9CM:576.9 MSH:D001660 SNOMEDCT_US_2015_03_01:105997008 SNOMEDCT_US_2015_03_01:155830002 SNOMEDCT_US_2015_03_01:155832005 SNOMEDCT_US_2015_03_01:266544009 SNOMEDCT_US_2015_03_01:266545005 SNOMEDCT_US_2015_03_01:5235004 UMLS_CUI:C0005424 disease_ontology pelvic varices DOID:9742 ICD10CM:I86.2 ICD9CM:456.5 SNOMEDCT_US_2015_03_01:17406005 SNOMEDCT_US_2015_03_01:195481006 SNOMEDCT_US_2015_03_01:266271008 UMLS_CUI:C0155795 disease_ontology diabetic neuropathy DOID:9743 ICD9CM:250.6 MSH:D003929 NCI:C26748 SNOMEDCT_US_2015_03_01:154683002 SNOMEDCT_US_2015_03_01:190349003 SNOMEDCT_US_2015_03_01:190353001 SNOMEDCT_US_2015_03_01:193182005 SNOMEDCT_US_2015_03_01:230572002 SNOMEDCT_US_2015_03_01:267472008 SNOMEDCT_US_2015_03_01:866003 UMLS_CUI:C0011882 disease_ontology type 1 diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. DOID:9744 EFO:0001359 ICD10CM:E10 IDDM KEGG:04940 MSH:D003922 NCI:C2986 OMIM:125852 OMIM:222100 OMIM:300136 OMIM:600318 OMIM:600319 OMIM:600320 OMIM:600321 OMIM:600883 OMIM:601208 OMIM:601318 OMIM:601388 OMIM:601666 OMIM:601941 OMIM:601942 OMIM:603266 OMIM:605598 OMIM:610155 OMIM:612520 OMIM:612521 OMIM:612522 OMIM:612622 OMIM:613006 SNOMEDCT_US_2015_03_01:154673001 SNOMEDCT_US_2015_03_01:190322003 SNOMEDCT_US_2015_03_01:190362004 SNOMEDCT_US_2015_03_01:267469001 SNOMEDCT_US_2015_03_01:46635009 UMLS_CUI:C0011854 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology insulin-dependent diabetes mellitus type I diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 perianal hematoma DOID:9745 External thrombosed haemorrhoids ICD10CM:K64.5 ICD9CM:455.4 SNOMEDCT_US_2015_03_01:155474006 SNOMEDCT_US_2015_03_01:157525008 SNOMEDCT_US_2015_03_01:211490002 SNOMEDCT_US_2015_03_01:26373009 SNOMEDCT_US_2015_03_01:269372002 Thrombosed external hemorrhoids UMLS_CUI:C0155784 disease_ontology External thrombosed haemorrhoids SNOMEDCT_2005_07_31:155474006 SNOMEDCT_2005_07_31:26373009 Thrombosed external hemorrhoids hemorrhoid A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. DOID:9746 ICD10CM:K64 ICD9CM:455 MSH:D006484 NCI:C26792 SNOMEDCT_US_2015_03_01:155469003 SNOMEDCT_US_2015_03_01:155477004 SNOMEDCT_US_2015_03_01:195472000 SNOMEDCT_US_2015_03_01:70153002 UMLS_CUI:C0019112 disease_ontology hemorrhoidal disease A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. PMID:19725283 url:http://en.wikipedia.org/wiki/Hemorrhoid url:http://www.nlm.nih.gov/medlineplus/hemorrhoids.html internal hemorrhoid DOID:9749 ICD9CM:455.6 SNOMEDCT_US_2015_03_01:82985000 UMLS_CUI:C0041844 disease_ontology popliteal cyst Baker's Cyst DOID:9751 disease_ontology true Baker's Cyst NCI2004_11_17:C34935 rupture of synovium DOID:9753 disease_ontology true ganglion or cyst of synovium/tendon/bursa DOID:9754 ICD9CM:727.49 UMLS_CUI:C0158336 disease_ontology arthropathy associated with dermatological disorder DOID:9761 disease_ontology true perinatal cyanotic attack Cyanotic attacks of newborn DOID:9762 disease_ontology true Cyanotic attacks of newborn ICD9CM_2006:770.83 biliary calculus with cholecystitis DOID:9764 calculus of gallbladder with cholecystitis (disorder) cholecystitis with Cholelithiasis disease_ontology true SNOMEDCT_2005_07_31:25924004 calculus of gallbladder with cholecystitis (disorder) NCI2004_11_17:C35332 cholecystitis with Cholelithiasis emphysematous cholecystitis DOID:9765 Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. Gaseous pericholecystitis MSH:D041882 NCI:C35592 SNOMEDCT_US_2015_03_01:95558008 UMLS_CUI:C0521610 disease_ontology Gaseous pericholecystitis SNOMEDCT_2005_07_31:95558008 Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous xanthogranulomatous cholecystitis DOID:9766 MSH:C536762 NCI:C35792 SNOMEDCT_US_2015_03_01:448286002 UMLS_CUI:C1337035 disease_ontology myocardial stunning DOID:9767 MSH:D017682 UMLS_CUI:C0206146 disease_ontology heart aneurysm DOID:9768 ICD10CM:I25.3 MSH:D006322 SNOMEDCT_US_2015_03_01:155317009 SNOMEDCT_US_2015_03_01:194847002 SNOMEDCT_US_2015_03_01:65340007 UMLS_CUI:C0018789 cardiac aneurysm disease_ontology CSP2005:1393-3252 cardiac aneurysm Retracted nipple associated with childbirth DOID:9770 disease_ontology true transient neonatal thrombocytopenia DOID:9771 ICD10CM:P61.0 ICD9CM:776.1 SNOMEDCT_US_2015_03_01:206514004 SNOMEDCT_US_2015_03_01:23205009 UMLS_CUI:C0158991 disease_ontology hematological disease of fetus and newborn DOID:9772 disease_ontology true female breast upper-outer quadrant cancer DOID:9773 ICD10CM:C50.41 ICD9CM:174.4 SNOMEDCT_US_2015_03_01:188154003 UMLS_CUI:C0153552 disease_ontology diastolic heart failure DOID:9775 ICD10CM:I50.30 ICD9CM:428.3 ICD9CM:428.30 MSH:D054144 SNOMEDCT_US_2015_03_01:418304008 UMLS_CUI:C1135196 disease_ontology Senile atrophy of choroid DOID:9776 ICD9CM:363.41 SNOMEDCT_US_2015_03_01:38513001 UMLS_CUI:C0154891 disease_ontology irritable bowel syndrome A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. DOID:9778 IBD ICD10CM:K58 ICD10CM:K58.9 ICD9CM:564.1 Irritable colon KEGG:05321 MSH:D043183 NCI:C82343 Psychogenic IBS SNOMEDCT_US_2015_03_01:10743008 SNOMEDCT_US_2015_03_01:155783000 SNOMEDCT_US_2015_03_01:192434000 SNOMEDCT_US_2015_03_01:197124009 SNOMEDCT_US_2015_03_01:266525002 UMLS_CUI:C0022104 disease_ontology CSP2005:1248-5871 IBD Psychogenic IBS SNOMEDCT_2005_07_31:10743008 A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. url:http://digestive.niddk.nih.gov/ddiseases/pubs/ibs/ url:http://en.wikipedia.org/wiki/Irritable_bowel_syndrome Irritable colon MTHICD9_2006:564.1 bowel dysfunction DOID:9779 ICD10CM:K59.9 ICD9CM:564.9 SNOMEDCT_US_2015_03_01:81120009 UMLS_CUI:C0016807 disease_ontology trichinosis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. DOID:9784 ICD10CM:B75 ICD9CM:124 MSH:D014235 NCI:C85199 SNOMEDCT_US_2015_03_01:154415009 SNOMEDCT_US_2015_03_01:266222003 SNOMEDCT_US_2015_03_01:88264003 Trichinella spiralis infection UMLS_CUI:C0040896 disease_ontology MTHICD9_2006:124 Trichinella spiralis infection A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm bulbar polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing. DOID:9786 ICD9CM:045.0 MSH:D011052 SNOMEDCT_US_2015_03_01:186475007 SNOMEDCT_US_2015_03_01:398327006 SNOMEDCT_US_2015_03_01:54839009 SNOMEDCT_US_2015_03_01:64764001 UMLS_CUI:C0032372 bulbar poliomyelitis disease_ontology A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing. url:http://en.wikipedia.org/wiki/Poliomyelitis Foreign body granuloma of muscle DOID:9787 disease_ontology true myositis fibrosa DOID:9788 ICD10CM:M60.1 ICD9CM:728.81 Interstitial myositis NCI:C26985 SNOMEDCT_US_2015_03_01:55925001 UMLS_CUI:C0158362 disease_ontology ICD9CM_2006:728.81 Interstitial myositis angioid streaks of choroid DOID:979 ICD9CM:363.43 SNOMEDCT_US_2015_03_01:86103006 UMLS_CUI:C0002983 disease_ontology toxocariasis A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. DOID:9790 DOID:9791 ICD10CM:B83.0 Infection by Toxascaris (disorder) MSH:D007816 NCI:C34758 SNOMEDCT_US_2015_03_01:87121004 Toxocara infection UMLS_CUI:C0023049 disease_ontology visceral larva migrans MTHICD9_2006:128.0 Toxocara infection Infection by Toxascaris (disorder) SNOMEDCT_2005_07_31:76695000 A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm hereditary choroidal atrophy DOID:9794 ICD10CM:H31.2 ICD10CM:H31.20 ICD9CM:363.5 ICD9CM:363.50 SNOMEDCT_US_2015_03_01:193465004 SNOMEDCT_US_2015_03_01:193473008 SNOMEDCT_US_2015_03_01:74469006 UMLS_CUI:C0154893 disease_ontology tuberculous meningitis DOID:9793 DOID:9795 disease_ontology meningeal tuberculosis true tuberculoma of meninges eye degenerative disease DOID:9799 ICD10CM:H44.30 ICD10CM:H44.5 ICD9CM:360.2 ICD9CM:360.20 ICD9CM:360.4 ICD9CM:360.40 SNOMEDCT_US_2015_03_01:193275003 SNOMEDCT_US_2015_03_01:193279009 SNOMEDCT_US_2015_03_01:193285002 SNOMEDCT_US_2015_03_01:193292007 SNOMEDCT_US_2015_03_01:62585004 UMLS_CUI:C0154777 disease_ontology staphylococcal infectious disease DOID:98 disease_ontology true choroidal sclerosis Choroidal degeneration (disorder) Choroidal degenerations DOID:980 ICD10CM:H31.1 ICD10CM:H31.10 ICD9CM:363.4 ICD9CM:363.40 OMIM mapping confirmed by DO. [SN]. OMIM:215500 SNOMEDCT_US_2015_03_01:193461008 SNOMEDCT_US_2015_03_01:193464000 SNOMEDCT_US_2015_03_01:247199007 SNOMEDCT_US_2015_03_01:267617003 SNOMEDCT_US_2015_03_01:406446000 SNOMEDCT_US_2015_03_01:47638000 UMLS_CUI:C0344297 disease_ontology Choroidal degeneration (disorder) SNOMEDCT_2005_07_31:406446000 Choroidal degenerations ICD9CM_2006:363.4 tuberculous peritonitis A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. DOID:9801 ICD10CM:A18.31 ICD9CM:014.0 MSH:D014395 SNOMEDCT_US_2015_03_01:197170002 SNOMEDCT_US_2015_03_01:31838005 SNOMEDCT_US_2015_03_01:44572005 UMLS_CUI:C0041325 disease_ontology A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false pneumococcal peritonitis A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. DOID:9804 disease_ontology true A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20013929 pneumococcal infectious disease DOID:9805 disease_ontology true Goodpasture syndrome A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. DOID:9808 DOID:9812 ICD10CM:M31.0 ICD9CM:446.21 MSH:D019867 NCI2009_04D:C34649 NCI:C34649 NCI:C84566 OMIM mapping confirmed by DO. [SN]. OMIM:233450 SNOMEDCT_US_2015_03_01:155445002 SNOMEDCT_US_2015_03_01:195351002 SNOMEDCT_US_2015_03_01:236506009 SNOMEDCT_US_2015_03_01:266323005 SNOMEDCT_US_2015_03_01:50581000 UMLS_CUI:C0403529 anti-glomerular basement membrane disease disease_ontology A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. url:http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome hypersensitivity vasculitis DOID:9809 ICD10CM:D69.0 ICD10CM:M31.0 ICD9CM:446.2 ICD9CM:446.20 MSH:D018366 NCI:C35119 SNOMEDCT_US_2015_03_01:195350001 SNOMEDCT_US_2015_03_01:195352009 SNOMEDCT_US_2015_03_01:60555002 UMLS_CUI:C0151436 disease_ontology diffuse secondary choroid atrophy DOID:981 ICD10CM:H31.12 ICD9CM:363.42 SNOMEDCT_US_2015_03_01:1843008 SNOMEDCT_US_2015_03_01:193463006 UMLS_CUI:C0154892 disease_ontology polyarteritis nodosa DOID:9810 ICD10CM:M30.0 ICD9CM:446.0 MSH:D010488 NCI:C26847 SNOMEDCT_US_2015_03_01:155441006 SNOMEDCT_US_2015_03_01:155445002 SNOMEDCT_US_2015_03_01:195347004 SNOMEDCT_US_2015_03_01:266323005 SNOMEDCT_US_2015_03_01:286960005 SNOMEDCT_US_2015_03_01:66121003 UMLS_CUI:C0031036 disease_ontology partial circumpapillary choroid dystrophy DOID:9811 ICD9CM:363.51 SNOMEDCT_US_2015_03_01:193466003 SNOMEDCT_US_2015_03_01:42175004 UMLS_CUI:C0154895 disease_ontology rheumatic heart disease DOID:9814 Rheumatic carditis disease_ontology true Rheumatic carditis SNOMEDCT_2005_07_31:201793007 Recent retinal detachment, total or subtotal DOID:9815 disease_ontology true partial recent retinal detachment with giant tear DOID:9816 disease_ontology true retinal defect DOID:12513 DOID:12515 DOID:9817 DOID:9818 DOID:9826 disease_ontology true delimited old retinal detachment DOID:9819 disease_ontology true disorganized type schizophrenia subchronic state with acute exacerbation DOID:982 disease_ontology true central gyrate choroidal dystrophy Choroidal dystrophy, serpiginous DOID:9820 ICD9CM:363.54 SNOMEDCT_US_2015_03_01:12778004 SNOMEDCT_US_2015_03_01:193469005 SNOMEDCT_US_2015_03_01:392049002 UMLS_CUI:C0154898 disease_ontology Choroidal dystrophy, serpiginous MTHICD9_2006:363.54 choroideremia DOID:9821 ICD10CM:H31.21 ICD9CM:363.55 MSH:D015794 NCI:C34469 OMIM mapping confirmed by DO. [SN]. OMIM:303100 SNOMEDCT_US_2015_03_01:75241009 UMLS_CUI:C0008525 disease_ontology progressive Choroidal Atrophy NCI2004_11_17:C34469 progressive Choroidal Atrophy partial central choroid dystrophy Choroidal dystrophy, central areolar DOID:9822 ICD9CM:363.53 OMIM mapping confirmed by DO. [SN]. OMIM:613105 SNOMEDCT_US_2015_03_01:193468002 SNOMEDCT_US_2015_03_01:80526002 UMLS_CUI:C0339427 disease_ontology Choroidal dystrophy, central areolar MTHICD9_2006:363.53 Partial recent retinal detachment with retinal dialysis DOID:9823 disease_ontology true total or subtotal old retinal detachment DOID:9824 disease_ontology true radioulnar synostosis DOID:9827 ICD10CM:Q74.0 ICD9CM:755.53 MSH:C562408 OMIM mapping confirmed by DO. [SN]. OMIM:179300 SNOMEDCT_US_2015_03_01:33313004 UMLS_CUI:C0158761 disease_ontology neonatal abstinence syndrome A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. DOID:6679 DOID:9828 Drug withdrawal syndrome in newborn ICD10CM:P96.1 ICD9CM:779.5 MSH:D009357 NCI:C35808 NCI:C87101 SNOMEDCT_US_2015_03_01:414819007 SNOMEDCT_US_2015_03_01:61628006 UMLS_CUI:C0027609 UMLS_CUI:C1332133 disease_ontology Drug withdrawal syndrome in newborn SNOMEDCT_2005_07_31:61628006 A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. url:http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004566/ drug abstinence syndrome or symptom DOID:9829 disease_ontology true hyperopia DOID:9834 Far-sightedness ICD10CM:H52.0 ICD9CM:367.0 MSH:D006956 SNOMEDCT_US_2015_03_01:155132008 SNOMEDCT_US_2015_03_01:38101003 UMLS_CUI:C0020490 disease_ontology hypermetropia ICD9CM_2006:367.0 hypermetropia Far-sightedness MTHICD9_2006:367.0 refractive error DOID:9835 EFO:0003908 ICD10CM:H52.7 MSH:D012030 NCI:C87145 SNOMEDCT_US_2015_03_01:21324001 SNOMEDCT_US_2015_03_01:267723000 SNOMEDCT_US_2015_03_01:314027003 SNOMEDCT_US_2015_03_01:39021009 UMLS_CUI:C0034951 disease_ontology disorder of refraction eye refraction disorder CSP2005:1116-1207 eye refraction disorder SNOMEDCT_2005_07_31:314027003 disorder of refraction refraction or accommodation disorder DOID:9836 disease_ontology true hypertropia DOID:9837 ICD10CM:H50.2 ICD9CM:378.31 MSH:D013285 NCI:C34716 SNOMEDCT_US_2015_03_01:194109005 SNOMEDCT_US_2015_03_01:40608009 UMLS_CUI:C0020575 disease_ontology cyclotropia DOID:9838 ICD10CM:H50.41 ICD9CM:378.33 SNOMEDCT_US_2015_03_01:70486007 UMLS_CUI:C0152209 disease_ontology accommodative esotropia DOID:9839 ICD10CM:H50.43 ICD9CM:378.35 SNOMEDCT_US_2015_03_01:18369000 SNOMEDCT_US_2015_03_01:194112008 SNOMEDCT_US_2015_03_01:419494007 UMLS_CUI:C0155336 disease_ontology temporomandibular joint disorder Costen's syndrome DOID:983 DOID:984 Myofascial pain - dysfunction syndrome of TMJ TMJ SYNDROME TMJ-pain-dysfunction syndrome disease_ontology temporomandibular dysfunction syndrome temporomandibular joint dysfunction syndrome true Costen's syndrome SNOMEDCT_2005_07_31:196430007 Myofascial pain - dysfunction syndrome of TMJ SNOMEDCT_2005_07_31:13612005 SNOMEDCT_2005_07_31:386207004 MTH:742 TMJ SYNDROME MTHICD9_2006:524.60 TMJ-pain-dysfunction syndrome CSP2005:2139-2181 temporomandibular dysfunction syndrome esotropia Convergence in manifest squint (finding) DOID:9840 Esotropia is a strabismus in which the eye turns inward toward the nose. ICD10CM:H50.0 ICD10CM:H50.00 ICD9CM:378.0 ICD9CM:378.00 Internal Strabismus MSH:D004948 NCI:C34596 SNOMEDCT_US_2015_03_01:155193001 SNOMEDCT_US_2015_03_01:16596007 SNOMEDCT_US_2015_03_01:194074002 SNOMEDCT_US_2015_03_01:194085000 UMLS_CUI:C0014877 crossed eyes disease_ontology Esotropia is a strabismus in which the eye turns inward toward the nose. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+ Convergence in manifest squint (finding) SNOMEDCT_2005_07_31:246711006 CSP2005:1115-2310 crossed eyes Internal Strabismus NCI2004_11_17:C34596 hypotropia DOID:9841 ICD9CM:378.32 NCI:C42086 SNOMEDCT_US_2015_03_01:29491004 UMLS_CUI:C0152208 disease_ontology total circumpapillary dystrophy of choroid Circumpapillary dystrophy of choroid, total DOID:9842 ICD9CM:363.52 SNOMEDCT_US_2015_03_01:59753003 UMLS_CUI:C0154896 disease_ontology Circumpapillary dystrophy of choroid, total ICD9CM_2006:363.52 monofixation syndrome DOID:9843 ICD10CM:H50.42 ICD9CM:378.34 SNOMEDCT_US_2015_03_01:14785004 SNOMEDCT_US_2015_03_01:194111001 UMLS_CUI:C0339611 disease_ontology peripheral vertigo DOID:9847 ICD10CM:H81.3 ICD10CM:H81.39 ICD10CM:H81.399 ICD9CM:386.1 ICD9CM:386.19 SNOMEDCT_US_2015_03_01:194353007 SNOMEDCT_US_2015_03_01:194359006 SNOMEDCT_US_2015_03_01:194692006 UMLS_CUI:C0029706 disease_ontology endolymphatic hydrops DOID:9848 ICD10CM:H81.0 MSH:D018159 SNOMEDCT_US_2015_03_01:194346003 SNOMEDCT_US_2015_03_01:27621000119100 SNOMEDCT_US_2015_03_01:70831000119103 SNOMEDCT_US_2015_03_01:9794007 UMLS_CUI:C0206586 disease_ontology labyrinthine hydrops CSP2005:0977-6437 labyrinthine hydrops Meniere's disease A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. DOID:9849 ICD10CM:H81.0 ICD10CM:H81.09 ICD9CM:386.0 ICD9CM:386.00 MSH:D008575 Meniere disease Mnire's vertigo OMIM mapping confirmed by DO. [SN]. OMIM:156000 Otogenic vertigo SNOMEDCT_US_2015_03_01:13445001 SNOMEDCT_US_2015_03_01:155235002 SNOMEDCT_US_2015_03_01:194346003 SNOMEDCT_US_2015_03_01:194347007 SNOMEDCT_US_2015_03_01:194352002 UMLS_CUI:C0025281 disease_ontology MTHICD9_2006:386.19 Otogenic vertigo Mnire's vertigo SNOMEDCT_2005_07_31:13445001 Meniere disease SNOMEDCT_2005_07_31:194346003 A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. url:http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease disorganized type schizophrenia subchronic state DOID:985 disease_ontology true lingual-facial-buccal dyskinesia DOID:9854 ICD10CM:G24.4 ICD9CM:333.82 MSH:D009069 Oro-facial dyskinesia SNOMEDCT_US_2015_03_01:155007009 SNOMEDCT_US_2015_03_01:192861006 SNOMEDCT_US_2015_03_01:267689009 SNOMEDCT_US_2015_03_01:49386006 UMLS_CUI:C0152115 disease_ontology Oro-facial dyskinesia SNOMEDCT_2005_07_31:155007009 syphilitic interstitial keratitis DOID:9855 disease_ontology true congenital syphilis A syphilis that results_in a multisystem infection in the fetus via the placenta. DOID:9856 ICD10CM:A50 ICD10CM:A50.9 ICD9CM:090 ICD9CM:090.9 MSH:D013590 NCI:C84649 SNOMEDCT_US_2015_03_01:154380005 SNOMEDCT_US_2015_03_01:186845009 SNOMEDCT_US_2015_03_01:187352005 SNOMEDCT_US_2015_03_01:35742006 UMLS_CUI:C0039131 disease_ontology A syphilis that results_in a multisystem infection in the fetus via the placenta. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html interstitial keratitis DOID:9857 ICD10CM:H16.30 ICD9CM:370.50 SNOMEDCT_US_2015_03_01:1763009 SNOMEDCT_US_2015_03_01:193784002 UMLS_CUI:C0155088 disease_ontology deep keratitis DOID:9858 ICD10CM:H16.3 ICD9CM:370.5 SNOMEDCT_US_2015_03_01:193783008 SNOMEDCT_US_2015_03_01:193788004 UMLS_CUI:C0155087 disease_ontology alopecia areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. Circumscribed alopecia DOID:986 EFO:0004192 ICD10CM:L63 ICD10CM:L63.9 ICD9CM:704.01 MSH:D000506 OMIM:104000 OMIM:610753 SNOMEDCT_US_2015_03_01:201131001 SNOMEDCT_US_2015_03_01:238727007 SNOMEDCT_US_2015_03_01:68225006 UMLS_CUI:C0002171 disease_ontology A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. ls:IEDB url:http://en.wikipedia.org/wiki/Alopecia_areata Circumscribed alopecia SNOMEDCT_2005_07_31:238727007 miliary tuberculosis An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. DOID:9861 DOID:9862 Disseminated tuberculosis (disorder) ICD10CM:A19 ICD10CM:A19.9 ICD9CM:018 ICD9CM:018.9 ICD9CM:018.90 MSH:D014391 NCI:C35086 SNOMEDCT_US_2015_03_01:154291001 SNOMEDCT_US_2015_03_01:186280001 SNOMEDCT_US_2015_03_01:187295007 SNOMEDCT_US_2015_03_01:47604008 Tuberculosis miliaris disseminata (disorder) UMLS_CUI:C0041321 acute miliary tuberculosis disease_ontology generalized tuberculosis SNOMEDCT_2005_07_31:180213004 Tuberculosis miliaris disseminata (disorder) ICD9CM_2006:018.0 acute miliary tuberculosis Disseminated tuberculosis (disorder) SNOMEDCT_2005_07_31:182159002 An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. url:http://en.wikipedia.org/wiki/Disseminated_tuberculosis lactation disorder DOID:9866 disease_ontology true toxic maculopathy DOID:9867 ICD10CM:H35.38 ICD9CM:362.55 SNOMEDCT_US_2015_03_01:193389005 SNOMEDCT_US_2015_03_01:44115007 Toxic maculopathy of retina UMLS_CUI:C0271086 disease_ontology ICD9CM_2006:362.55 Toxic maculopathy of retina intestinal disaccharidase deficiency DOID:9868 ICD9CM:271.3 NCI:C34731 UMLS_CUI:C0021830 disease_ontology hereditary fructose intolerance syndrome DOID:9869 Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia ICD10CM:E74.12 ICD9CM:271.2 MSH:D005633 NCI:C84720 SNOMEDCT_US_2015_03_01:20052008 SNOMEDCT_US_2015_03_01:20290005 SNOMEDCT_US_2015_03_01:237962008 UMLS_CUI:C0016751 disease_ontology Fructosemia MTHICD9_2006:271.2 Fructose-1,6-bisphosphate aldolase B deficiency SNOMEDCT_2005_07_31:237962008 Fructosaemia SNOMEDCT_2005_07_31:20290005 alopecia A hypotrichosis that is characterized by a loss of hair from the head or body. DOID:987 ICD10CM:L65.9 ICD9CM:704.0 ICD9CM:704.00 MSH:D000505 NCI:C50575 OMIM:109200 OMIM:300042 SNOMEDCT_US_2015_03_01:156408004 SNOMEDCT_US_2015_03_01:201129005 SNOMEDCT_US_2015_03_01:201130000 SNOMEDCT_US_2015_03_01:201157003 SNOMEDCT_US_2015_03_01:267810004 SNOMEDCT_US_2015_03_01:270504008 SNOMEDCT_US_2015_03_01:278040002 SNOMEDCT_US_2015_03_01:56317004 UMLS_CUI:C0002170 disease_ontology A hypotrichosis that is characterized by a loss of hair from the head or body. url:http://en.wikipedia.org/wiki/Alopecia url:http://www.omim.org/entry/109200?search=109200&highlight=109200 galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. DOID:9870 Galactosaemia Galactose intolerance ICD10CM:E74.21 ICD9CM:271.1 MSH:D005693 NCI:C84723 OMIM mapping by NeuroDevNet. [LS]. OMIM:230350 OMIM:230400 SNOMEDCT_US_2015_03_01:154738008 SNOMEDCT_US_2015_03_01:190745006 SNOMEDCT_US_2015_03_01:190747003 SNOMEDCT_US_2015_03_01:190749000 SNOMEDCT_US_2015_03_01:267498002 SNOMEDCT_US_2015_03_01:38177000 UMLS_CUI:C0016952 disease_ontology A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. url:http://en.wikipedia.org/wiki/Galactosemia Galactose intolerance SNOMEDCT_2005_07_31:190749000 Galactosaemia SNOMEDCT_2005_07_31:154738008 urethral gland abscess DOID:9877 ICD10CM:N34.0 ICD9CM:597.0 SNOMEDCT_US_2015_03_01:197899005 SNOMEDCT_US_2015_03_01:197900000 SNOMEDCT_US_2015_03_01:197901001 SNOMEDCT_US_2015_03_01:197902008 SNOMEDCT_US_2015_03_01:67277002 UMLS_CUI:C0156278 disease_ontology Excessive vomiting starting after 22 completed weeks of gestation DOID:13418 DOID:9878 antepartum late vomiting of pregnancy disease_ontology true mitral valve prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. Barlow's syndrome DOID:988 MSH:D008945 NCI:C50655 OMIM:157700 OMIM:607829 OMIM:610840 SNOMEDCT_US_2015_03_01:155386005 SNOMEDCT_US_2015_03_01:194977007 SNOMEDCT_US_2015_03_01:194980008 SNOMEDCT_US_2015_03_01:409712001 SNOMEDCT_US_2015_03_01:42069006 SNOMEDCT_US_2015_03_01:45023003 SNOMEDCT_US_2015_03_01:8074002 UMLS_CUI:C0026267 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology floppy mitral valve mitral leaflet syndrome myxomatous mitral valve prolapse systolic click-murmur syndrome A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. url:http://en.wikipedia.org/wiki/Mitral_valve_prolapse url:http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse url:http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract Barlow's syndrome MTH:097 cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. DOID:9880 ICD9CM:093.8 ICD9CM:093.89 SNOMEDCT_US_2015_03_01:111823001 SNOMEDCT_US_2015_03_01:186880008 SNOMEDCT_US_2015_03_01:186882000 UMLS_CUI:C0029751 disease_ontology A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. url:http://emedicine.medscape.com/article/229461-overview#a0104 url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh Becker muscular dystrophy Benign pseudohypertrophic muscular dystrophy DOID:9883 OMIM mapping confirmed by DO. [SN]. OMIM:300376 SNOMEDCT_US_2015_03_01:111501005 SNOMEDCT_US_2015_03_01:193222002 UMLS_CUI:C0699741 benign congenital myopathy disease_ontology muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration. DOID:9884 ICD10CM:G71.0 ICD9CM:359.1 MSH:D009136 NCI:C84910 OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416 SNOMEDCT_US_2015_03_01:155095006 SNOMEDCT_US_2015_03_01:193225000 SNOMEDCT_US_2015_03_01:193236007 SNOMEDCT_US_2015_03_01:193257004 SNOMEDCT_US_2015_03_01:267712004 SNOMEDCT_US_2015_03_01:44292004 SNOMEDCT_US_2015_03_01:73297009 UMLS_CUI:C0026850 disease_ontology A myopathy is characterized by progressive skeletal muscle weakness degeneration. url:http://en.wikipedia.org/wiki/Muscular_dystrophy url:http://www.ninds.nih.gov/disorders/md/md.htm alternating esotropia DOID:9888 ICD10CM:H50.05 ICD9CM:378.05 SNOMEDCT_US_2015_03_01:194080005 SNOMEDCT_US_2015_03_01:39837002 UMLS_CUI:C0152205 disease_ontology alternating esotropia with A pattern DOID:9889 disease_ontology true intermittent alternating esotropia DOID:9890 disease_ontology true alternating esotropia with V pattern DOID:9891 disease_ontology true median arcuate ligament syndrome Celiac artery compression syndrome DOID:9892 Harjola-Marable syndrome ICD10CM:I77.4 ICD9CM:447.4 Marable's syndrome SNOMEDCT_US_2015_03_01:9250002 UMLS_CUI:C0152098 disease_ontology Celiac artery compression syndrome ICD9CM_2006:447.4 periodontosis DOID:9893 ICD10CM:K05.4 ICD9CM:523.5 MSH:D010520 UMLS_CUI:C0600298 disease_ontology villonodular synovitis DOID:10635 DOID:10636 DOID:10637 DOID:10638 DOID:10639 DOID:10640 DOID:10641 DOID:9897 DOID:9898 ICD10CM:M12.20 ICD9CM:719.2 ICD9CM:719.20 SNOMEDCT_US_2015_03_01:202423001 SNOMEDCT_US_2015_03_01:202454002 SNOMEDCT_US_2015_03_01:34671005 SNOMEDCT_US_2015_03_01:95411002 UMLS_CUI:C0158168 disease_ontology glaucoma associated with tumors or cysts DOID:9899 disease_ontology true congenital heart block An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. DOID:990 ICD10CM:Q24.6 ICD9CM:746.86 MSH:C535758 OMIM mapping confirmed by DO. [SN]. OMIM:234700 SNOMEDCT_US_2015_03_01:156924006 SNOMEDCT_US_2015_03_01:204381004 SNOMEDCT_US_2015_03_01:204382006 SNOMEDCT_US_2015_03_01:204385008 SNOMEDCT_US_2015_03_01:46619002 UMLS_CUI:C0149530 disease_ontology An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. PMID:22368629 protracted reactive paranoid psychosis DOID:9900 Psychogenic paranoid psychosis disease_ontology true ICD9CM_2006:298.4 Psychogenic paranoid psychosis meibomian cyst A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. Chalazion DOID:9903 ICD10CM:H00.1 ICD9CM:373.2 MSH:D017043 NCI:C26717 SNOMEDCT_US_2015_03_01:1482004 SNOMEDCT_US_2015_03_01:155172004 SNOMEDCT_US_2015_03_01:155173009 SNOMEDCT_US_2015_03_01:267736000 SNOMEDCT_US_2015_03_01:397514009 UMLS_CUI:C0007933 disease_ontology meibomian gland lipogranuloma A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. url:http://en.wikipedia.org/wiki/Chalazion Chalazion ICD9CM_2006:373.2 follicular mucinosis Alopecia mucinosa DOID:9905 ICD10CM:L65.2 MSH:D000507 NCI:C82859 SNOMEDCT_US_2015_03_01:201150001 SNOMEDCT_US_2015_03_01:27382006 UMLS_CUI:C0002173 disease_ontology Alopecia mucinosa SNOMEDCT_2005_07_31:27382006 internal hordeolum DOID:9908 ICD10CM:H00.02 ICD9CM:373.12 SNOMEDCT_US_2015_03_01:15750009 SNOMEDCT_US_2015_03_01:397514009 SNOMEDCT_US_2015_03_01:414521009 SNOMEDCT_US_2015_03_01:95752007 UMLS_CUI:C0085690 disease_ontology hordeolum Boil of eyelid DOID:9909 Furuncle of eyelid Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. ICD10CM:H00.01 MSH:D006726 SNOMEDCT_US_2015_03_01:1489008 SNOMEDCT_US_2015_03_01:155172004 SNOMEDCT_US_2015_03_01:193912000 SNOMEDCT_US_2015_03_01:193913005 SNOMEDCT_US_2015_03_01:267736000 SNOMEDCT_US_2015_03_01:397513003 SNOMEDCT_US_2015_03_01:74612003 Stye UMLS_CUI:C0019917 disease_ontology MTHICD9_2006:373.11 Stye Boil of eyelid SNOMEDCT_2005_07_31:1489008 Furuncle of eyelid MTHICD9_2006:373.13 Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. url:http://en.wikipedia.org/wiki/Hordeolum central corneal ulcer DOID:9910 ICD10CM:H16.01 ICD9CM:370.03 SNOMEDCT_US_2015_03_01:193761009 SNOMEDCT_US_2015_03_01:7426009 UMLS_CUI:C0155069 central corneal ulcer (disorder) disease_ontology SNOMEDCT_2005_07_31:7426009 central corneal ulcer (disorder) infected hydrocele DOID:9911 ICD10CM:N43.1 ICD9CM:603.1 SNOMEDCT_US_2015_03_01:11666007 UMLS_CUI:C0156300 disease_ontology hydrocele DOID:9912 disease_ontology axillary metastasis DOID:9913 disease_ontology metastatic malignant tumor to the Axilla true NCI2004_11_17:C35748 metastatic malignant tumor to the Axilla malignant neoplasm of ribs, sternum and clavicle Ca ribs/sternum/clavicle DOID:9915 disease_ontology true Ca ribs/sternum/clavicle SNOMEDCT_2005_07_31:154496009 secondary malignant neoplasm to the chest wall DOID:9916 disease_ontology true malignant neoplasm of thoracic esophagus DOID:9919 disease_ontology true Omsk hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. DOID:992 ICD10CM:A98.1 ICD9CM:065.1 MSH:D006481 SNOMEDCT_US_2015_03_01:48113006 UMLS_CUI:C0019103 disease_ontology A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm url:http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php url:http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf developmental coordination disorder A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. DOID:9923 ICD10CM:F82 ICD9CM:315.4 MSH:D019957 NCI:C92561 SNOMEDCT_US_2015_03_01:192578006 SNOMEDCT_US_2015_03_01:27544004 UMLS_CUI:C0011757 disease_ontology A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. url:http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm hyperostosis frontalis interna DOID:9925 disease_ontology true meningococcal meningitis DOID:9929 disease_ontology true Flavivirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. DOID:993 disease_ontology true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. url:http://en.wikipedia.org/wiki/Flavivirus primary Neisseriaceae infectious disease DOID:9930 disease_ontology true Waterhouse-Friderichsen syndrome An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. DOID:12613 DOID:9931 MSH:D014884 Meningococcal hemorrhagic adrenalitis NCI:C85225 SNOMEDCT_US_2015_03_01:154709005 SNOMEDCT_US_2015_03_01:267484005 UMLS_CUI:C0043068 WFS disease_ontology MTHICD9_2006:036.3 Meningococcal hemorrhagic adrenalitis An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. url:http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse chronic inflammation of lacrimal passage DOID:9935 ICD10CM:H04.4 ICD9CM:375.4 SNOMEDCT_US_2015_03_01:193990009 SNOMEDCT_US_2015_03_01:193991008 SNOMEDCT_US_2015_03_01:267653001 UMLS_CUI:C0155239 disease_ontology chronic canaliculitis DOID:9936 ICD10CM:H04.42 ICD9CM:375.41 SNOMEDCT_US_2015_03_01:26479009 UMLS_CUI:C0155240 disease_ontology chronic dacryocystitis DOID:9937 ICD10CM:H04.41 ICD9CM:375.42 SNOMEDCT_US_2015_03_01:193990009 SNOMEDCT_US_2015_03_01:84627005 UMLS_CUI:C0149506 disease_ontology dacryocystitis DOID:9938 ICD10CM:H04.30 ICD9CM:375.30 MSH:D003607 NCI:C34521 SNOMEDCT_US_2015_03_01:155183008 SNOMEDCT_US_2015_03_01:193987003 SNOMEDCT_US_2015_03_01:193989000 SNOMEDCT_US_2015_03_01:267738004 SNOMEDCT_US_2015_03_01:85777005 UMLS_CUI:C0010930 disease_ontology dacryocystocele DOID:9939 ICD9CM:375.43 NCI:C98968 SNOMEDCT_US_2015_03_01:42758002 UMLS_CUI:C0155241 disease_ontology lacrimal mucocele ICD9CM_2006:375.43 lacrimal mucocele Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium DOID:9940 disease_ontology true lymph node disease DOID:9942 NCI:C35346 SNOMEDCT_US_2015_03_01:76616003 UMLS_CUI:C0272394 disease_ontology syphilitic episcleritis DOID:9943 disease_ontology true constant exophthalmos DOID:9945 ICD10CM:H05.24 ICD9CM:376.31 SNOMEDCT_US_2015_03_01:194015008 SNOMEDCT_US_2015_03_01:89907009 UMLS_CUI:C0155267 disease_ontology steroid-induced glaucoma Corticosteroid-induced glaucoma DOID:9946 ICD9CM:365.3 SNOMEDCT_US_2015_03_01:1654001 SNOMEDCT_US_2015_03_01:193550003 UMLS_CUI:C0339578 disease_ontology Corticosteroid-induced glaucoma ICD9CM_2006:365.3 residual stage corticosteroid-induced glaucoma DOID:9948 ICD9CM:365.32 SNOMEDCT_US_2015_03_01:193549003 SNOMEDCT_US_2015_03_01:52519003 UMLS_CUI:C0339580 disease_ontology acute lymphocytic leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts. DOID:9952 EFO:0000220 ICD10CM:C91.0 ICD10CM:C91.00 ICD9CM:204.0 NCI:C3167 OMIM:247640 OMIM:613065 OMIM:613067 OMIM:615545 ORDO:513 SNOMEDCT_US_2015_03_01:128822004 SNOMEDCT_US_2015_03_01:154588002 SNOMEDCT_US_2015_03_01:190034000 SNOMEDCT_US_2015_03_01:90151006 SNOMEDCT_US_2015_03_01:91857003 UMLS_CUI:C0023449 Xref MGI. acute lymphoblastic leukemia disease_ontology A lymphoblastic leukemia that is characterized by over production of lymphoblasts. url:http://www.cancer.gov/dictionary?CdrID=46332 B- and T-cell mixed leukemia DOID:9953 ICD10CM:C95.0 MSH:D015456 NCI:C4673 SNOMEDCT_US_2015_03_01:128818009 SNOMEDCT_US_2015_03_01:278453007 UMLS_CUI:C0023464 disease_ontology null-cell leukemia DOID:9954 Null cell acute lymphoblastic leukemia (disorder) SNOMEDCT_US_2015_03_01:277574007 UMLS_CUI:C0023483 disease_ontology Null cell acute lymphoblastic leukemia (disorder) SNOMEDCT_2005_07_31:277574007 hypoplastic left heart syndrome A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. DOID:9955 ICD10CM:Q23.4 ICD9CM:746.7 MSH:D018636 NCI:C98894 OMIM:241550 OMIM:614435 SNOMEDCT_US_2015_03_01:62067003 UMLS_CUI:C0152101 Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. url:http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome url:http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1 url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html periostitis DOID:10894 DOID:14496 DOID:9956 DOID:9957 MSH:D010522 SNOMEDCT_US_2015_03_01:41910004 UMLS_CUI:C0031111 disease_ontology hemometra DOID:9958 Hematometra ICD10CM:N85.7 ICD9CM:621.4 MSH:D006409 SNOMEDCT_US_2015_03_01:38280009 UMLS_CUI:C0018948 disease_ontology Hematometra ICD9CM_2006:621.4 toxoplasmosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. DOID:13334 DOID:13339 DOID:13344 DOID:9965 ICD10CM:B58 ICD10CM:B58.9 ICD9CM:130 ICD9CM:130.9 MSH:D014123 NCI:C3418 SNOMEDCT_US_2015_03_01:154423006 SNOMEDCT_US_2015_03_01:187192000 SNOMEDCT_US_2015_03_01:187200007 SNOMEDCT_US_2015_03_01:187515009 SNOMEDCT_US_2015_03_01:266225001 SNOMEDCT_US_2015_03_01:276203008 SNOMEDCT_US_2015_03_01:9399000 UMLS_CUI:C0040558 disease_ontology disseminated toxoplasmosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. url:http://en.wikipedia.org/wiki/Toxoplasmosis carotenemia DOID:9969 ICD10CM:E67.1 ICD9CM:278.3 NCI:C26963 SNOMEDCT_US_2015_03_01:35487009 UMLS_CUI:C0154271 disease_ontology hypercarotinemia ICD9CM_2006:278.3 hypercarotinemia uterine inversion DOID:997 ICD10CM:N85.5 ICD9CM:665.2 MSH:D019687 SNOMEDCT_US_2015_03_01:156232008 SNOMEDCT_US_2015_03_01:156233003 SNOMEDCT_US_2015_03_01:199968003 SNOMEDCT_US_2015_03_01:199971006 SNOMEDCT_US_2015_03_01:267347009 SNOMEDCT_US_2015_03_01:27215002 UMLS_CUI:C0162482 disease_ontology obesity DOID:9970 EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MSH:D009765 NCI:C3283 OMIM mapping confirmed by DO. [SN]. OMIM:601665 SNOMEDCT_US_2015_03_01:154776002 SNOMEDCT_US_2015_03_01:190963004 SNOMEDCT_US_2015_03_01:414915002 SNOMEDCT_US_2015_03_01:414916001 SNOMEDCT_US_2015_03_01:5476005 UMLS_CUI:C0028754 disease_ontology hypervitaminosis D DOID:9971 ICD10CM:E67.3 ICD9CM:278.4 SNOMEDCT_US_2015_03_01:190969000 SNOMEDCT_US_2015_03_01:27712000 UMLS_CUI:C1442839 disease_ontology hypervitaminosis A DOID:9972 ICD10CM:E67.0 ICD9CM:278.2 MSH:D006986 SNOMEDCT_US_2015_03_01:64559002 UMLS_CUI:C0020579 disease_ontology substance dependence A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. DOID:9973 NCI:C35458 SNOMEDCT_US_2015_03_01:103326000 SNOMEDCT_US_2015_03_01:255338002 UMLS_CUI:C0439857 disease_ontology A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence drug dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance. DOID:9974 ICD9CM:304.6 ICD9CM:304.60 SNOMEDCT_US_2015_03_01:191859004 SNOMEDCT_US_2015_03_01:191860009 SNOMEDCT_US_2015_03_01:191864000 SNOMEDCT_US_2015_03_01:268644006 UMLS_CUI:C0029792 disease_ontology A substance dependence that involves the continued use of drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine. DOID:9975 ICD10CM:F14.2 ICD9CM:304.2 ICD9CM:304.20 MSH:D019970 NCI:C34492 SNOMEDCT_US_2015_03_01:191829009 SNOMEDCT_US_2015_03_01:191830004 SNOMEDCT_US_2015_03_01:191834008 SNOMEDCT_US_2015_03_01:192254002 SNOMEDCT_US_2015_03_01:286934009 SNOMEDCT_US_2015_03_01:31956009 UMLS_CUI:C0600427 disease_ontology A drug dependence that is a psychological dependency on the regular use of cocaine. url:http://en.wikipedia.org/wiki/Cocaine_dependence heroin dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. DOID:9976 MSH:D006556 NCI:C34694 SNOMEDCT_US_2015_03_01:191817000 SNOMEDCT_US_2015_03_01:192220003 SNOMEDCT_US_2015_03_01:231477003 UMLS_CUI:C0019337 disease_ontology An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence hallucinogen dependence A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. DOID:9977 ICD10CM:F16.2 ICD9CM:304.5 ICD9CM:304.50 NCI:C34657 SNOMEDCT_US_2015_03_01:191847003 SNOMEDCT_US_2015_03_01:191848008 SNOMEDCT_US_2015_03_01:191852008 SNOMEDCT_US_2015_03_01:268643000 SNOMEDCT_US_2015_03_01:38247002 UMLS_CUI:C0018528 disease_ontology A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Hallucinogenic_drugs acute female pelvic peritonitis DOID:9978 ICD10CM:N73.3 ICD9CM:614.5 SNOMEDCT_US_2015_03_01:198167003 SNOMEDCT_US_2015_03_01:198168008 SNOMEDCT_US_2015_03_01:198170004 SNOMEDCT_US_2015_03_01:266583006 SNOMEDCT_US_2015_03_01:85051008 UMLS_CUI:C0269032 disease_ontology eosinophilia-myalgia syndrome DOID:998 Eosinophilia myalgia syndrome ICD9CM:710.5 MSH:D016603 SNOMEDCT_US_2015_03_01:95416007 UMLS_CUI:C0085179 disease_ontology Eosinophilia myalgia syndrome ICD9CM_2006:710.5 orbit lymphoma DOID:9986 Lymphoma of the orbit MSH:C537131 NCI:C6244 SNOMEDCT_US_2015_03_01:13048006 UMLS_CUI:C0271333 disease_ontology orbital lymphoma (disorder) SNOMEDCT_2005_07_31:13048006 orbital lymphoma (disorder) Lymphoma of the orbit NCI2004_11_17:C6244 orbit sarcoma DOID:9987 NCI:C6095 SNOMEDCT_US_2015_03_01:699354006 UMLS_CUI:C1335131 disease_ontology orbital sarcoma NCI2004_11_17:C6095 orbital sarcoma tertiary neurosyphilis A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. DOID:9988 ICD10CM:A52.3 ICD9CM:094 ICD9CM:094.9 MSH:D009494 NCI:C84935 SNOMEDCT_US_2015_03_01:154384001 SNOMEDCT_US_2015_03_01:186884004 SNOMEDCT_US_2015_03_01:186895005 SNOMEDCT_US_2015_03_01:187356008 SNOMEDCT_US_2015_03_01:26039008 SNOMEDCT_US_2015_03_01:266210001 UMLS_CUI:C0027927 disease_ontology late neurosyphilis A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm metastasis to the orbit DOID:9989 disease_ontology metastatic tumor to the orbit secondary malignant neoplasm of orbit (disorder) true NCI2004_11_17:C8556 metastatic tumor to the orbit SNOMEDCT_2005_07_31:94453007 secondary malignant neoplasm of orbit (disorder) eosinophilia DOID:999 Eosinophil count raised Eosinophilic leukocytosis ICD10CM:D72.1 ICD9CM:288.3 MSH:D004802 SNOMEDCT_US_2015_03_01:165524009 SNOMEDCT_US_2015_03_01:191363000 SNOMEDCT_US_2015_03_01:27955006 SNOMEDCT_US_2015_03_01:418928000 UMLS_CUI:C0014457 disease_ontology Eosinophilic leukocytosis MTHICD9_2006:288.3 Eosinophil count raised SNOMEDCT_2005_07_31:142935007 hypoglycemia DOID:9993 Hypoglycaemia ICD10CM:E16.2 ICD9CM:251.2 MSH:D007003 NCI:C3126 SNOMEDCT_US_2015_03_01:154691006 SNOMEDCT_US_2015_03_01:154693009 SNOMEDCT_US_2015_03_01:190433001 SNOMEDCT_US_2015_03_01:190436009 SNOMEDCT_US_2015_03_01:237630007 SNOMEDCT_US_2015_03_01:271327008 SNOMEDCT_US_2015_03_01:302866003 SNOMEDCT_US_2015_03_01:66694000 UMLS_CUI:C0020615 disease_ontology Hypoglycaemia SNOMEDCT_2005_07_31:154691006 endocrine and metabolic disturbances specific to the fetus and newborn DOID:9995 disease_ontology true peripartum cardiomyopathy DOID:11697 DOID:11980 DOID:9997 ICD10CM:O90.3 ICD9CM:674.5 SNOMEDCT_US_2015_03_01:16253001 UMLS_CUI:C0877208 antepartum peripartum cardiomyopathy disease_ontology postpartum peripartum cardiomyopathy