A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. DOID:267 DOID:4508 ICDO:9120/3 MESH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2023_03_01:39000009 UMLS_CUI:C0018923 UMLS_CUI:C0854893 hemangiosarcoma disease_ontology DOID:0001816 angiosarcoma A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. url:http://en.wikipedia.org/wiki/Hemangiosarcoma url:https://en.wikipedia.org/wiki/Angiosarcoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 url:https://www.ncbi.nlm.nih.gov/pubmed/23327728 A disease that involving errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2023_03_01:75934005 UMLS_CUI:C0025517 metabolic disease disease_ontology DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ A lupus erythematosus caused by chronic use of certain drugs. ICD10CM:M32.0 NCI:C114354 ORDO:231111 SNOMEDCT_US_2023_03_01:80258006 UMLS_CUI:C0263591 DIL DILE disease_ontology DOID:0040093 drug-induced lupus erythematosus A lupus erythematosus caused by chronic use of certain drugs. url:https://www.ncbi.nlm.nih.gov/pubmed/1378852 IEDB:RV 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:6453 GARD:6589 ICD10CM:D76.1 MESH:D051359 NCI:C34792 OMIM:PS267700 ORDO:540 SNOMEDCT_US_2023_03_01:190958003 UMLS_CUI:C0024291 haemophagocytic syndrome disease_ontology DOID:0050120 Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]. 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. url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso 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:2052 DOID:9564 ICD10CM:J01 ICD9CM:461 NCI:C128411 SNOMEDCT_US_2023_03_01:195649005 UMLS_CUI:C0149512 disease_ontology DOID:0050127 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. 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 A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. GARD:6815 MESH:D007619 NCI:C84797 ORDO:98861 SNOMEDCT_US_2021_09_01:42402006 Kartagener's syndrome disease_ontology DOID:0050144 Kartagener syndrome A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. 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:https://www.ncbi.nlm.nih.gov/pubmed/19529061 url:https://www.ncbi.nlm.nih.gov/pubmed/23243352 url:https://www.ncbi.nlm.nih.gov/pubmed/24019633 url:https://www.ncbi.nlm.nih.gov/pubmed/25633235 A pulmonary fibrosis that is characterized by scarring of the lung. EFO:0000768 GARD:8609 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35716 OMIM:178500 SNOMEDCT_US_2023_03_01:28168000 UMLS_CUI:C1800706 FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis disease_ontology DOID:0050156 OMIM mapping confirmed by DO. [SN]. idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung. url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf 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. DOID:2798 GARD:1620 ICD10CM:J84.116 ICD9CM:516.36 MESH:D018549 NCI:C62586 SNOMEDCT_US_2023_03_01:129458007 UMLS_CUI:C0242770 BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia disease_ontology DOID:0050157 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. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 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:2796 ICD10CM:J84.117 ICD9CM:516.37 MESH:C562470 NCI:C35288 OMIM:263000 SNOMEDCT_US_2023_03_01:8549006 UMLS_CUI:C0238378 RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease disease_ontology DOID:0050158 OMIM mapping confirmed by DO. [SN]. 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. 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:https://www.ncbi.nlm.nih.gov/pubmed/11790668 url:https://www.ncbi.nlm.nih.gov/pubmed/16142185 url:https://www.ncbi.nlm.nih.gov/pubmed/16456642 url:https://www.ncbi.nlm.nih.gov/pubmed/23001799 A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 NCI:C3155 SNOMEDCT_US_2023_03_01:230688006 UMLS_CUI:C0022972 Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome 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. ICD10CM:A59.00 MESH:D014247 NCI:C35083 urogenital trichomonas disease_ontology DOID:0050269 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. url:http://en.wikipedia.org/wiki/Trichomoniasis A hypothyroidism that is present at birth. DOID:11631 DOID:11632 GARD:1487 ICD10CM:E00.1 ICD10CM:E03.1 ICD9CM:243 MESH:D003409 NCI:C26734 NCI:C98921 OMIM:PS275200 SNOMEDCT_US_2023_03_01:217710005 SNOMEDCT_US_2023_03_01:75065003 UMLS_CUI:C0010308 UMLS_CUI:C0342200 disease_ontology DOID:0050328 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital hypothyroidism A hypothyroidism that is present at birth. url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism An intestinal disease that has_material_basis_in 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. GARD:6408 MESH:D011125 NCI:C3339 OMIM:PS175100 ORDO:733 SNOMEDCT_US_2023_03_01:72900001 UMLS_CUI:C0032580 adenomatous polyposis of the colon disease_ontology DOID:0050424 OMIM mapping confirmed by DO. [SN]. familial adenomatous polyposis An intestinal disease that has_material_basis_in 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. url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. EFO:0004270 GARD:11926 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 NCI:C84501 OMIM:PS102300 SNOMEDCT_US_2023_03_01:32914008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome disease_ontology DOID:0050425 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Restless_legs_syndrome url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. EFO:0004276 GARD:7700 ICD10CM:L51.1 ICD9CM:695.13 MESH:D013262 NCI:C79484 SNOMEDCT_US_2023_03_01:73442001 UMLS_CUI:C0038325 disease_ontology DOID:0050426 Stevens-Johnson syndrome MESH:D013262 A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. GARD:7910 ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 SNOMEDCT_US_2023_03_01:44600005 UMLS_CUI:C0043346 disease_ontology DOID:0050427 OMIM mapping confirmed by DO. [SN]. xeroderma pigmentosum A syndrome 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 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. MESH:D015776 NCI:C3147 OMIM:600962 ORDO:2337 SNOMEDCT_US_2023_03_01:81206005 UMLS_CUI:C0022584 UMLS_CUI:C3489771 Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis disease_ontology DOID:0050428 Xref MGI. OMIM mapping confirmed by DO. [SN]. nonepidermolytic palmoplantar keratoderma 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 A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. GARD:6559 ICD10CM:Q82.8 MESH:D016506 NCI:C82865 OMIM:169600 SNOMEDCT_US_2023_03_01:79468000 UMLS_CUI:C0085106 BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial disease_ontology DOID:0050429 OMIM mapping confirmed by DO. [SN]. Hailey-Hailey disease A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/ A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 NCI:C3226 OMIM:171400 ORDO:247698 SNOMEDCT_US_2023_03_01:721188000 UMLS_CUI:C0025268 MEN2A Sipple syndrome multiple endocrine neoplasia II disease_ontology DOID:0050430 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2A A multiple endocrine neoplasia 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:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract 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 and limited or no involvement of the left ventricle. MESH:D019571 NCI:C84571 OMIM:PS107970 ORDO:217656 ORDO:247 SNOMEDCT_US_2023_03_01:281170005 UMLS_CUI:C0349788 ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM disease_ontology DOID:0050431 Xref MGI. OMIM mapping confirmed by DO. [SN]. arrhythmogenic right ventricular cardiomyopathy 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 and limited or no involvement of the left 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 url:https://pubmed.ncbi.nlm.nih.gov/31637441/ 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. GARD:5855 ICD10CM:F84.5 MESH:D020817 NCI:C97159 OMIM:608631 OMIM:608638 OMIM:608781 OMIM:609954 OMIM:PS608638 ORDO:1162 SNOMEDCT_US_2023_03_01:154879004 UMLS_CUI:C0236792 disease_ontology DOID:0050432 Multiple OMIM IDs are susceptibility terms [LS] 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. url:http://en.wikipedia.org/wiki/Asperger_syndrome url:http://www.neurodevnet.ca A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. GARD:6429 ICD10CM:A81.83 ICD9CM:046.72 MESH:D034062 NCI:C84711 OMIM:600072 SNOMEDCT_US_2023_03_01:83157008 UMLS_CUI:C0206042 disease_ontology DOID:0050433 OMIM mapping confirmed by DO. [SN]. fatal familial insomnia A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia A long QT 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. GARD:9453 MESH:D050030 NCI:C84559 OMIM:170390 ORDO:37553 SNOMEDCT_US_2023_03_01:422348008 UMLS_CUI:C1563715 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Andersen syndrome LQT7 Long QT syndrome 7 Potassium-Sensitive Cardiodysrhythmic Type disease_ontology DOID:0050434 OMIM mapping confirmed by DO. [SN]. Andersen-Tawil syndrome A long QT 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 A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. GARD:95 MESH:D050336 NCI:C84906 OMIM:253250 ORDO:2576 SNOMEDCT_US_2023_03_01:81604003 UMLS_CUI:C0524582 MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome disease_ontology DOID:0050436 OMIM mapping confirmed by DO. [SN]. mulibrey nanism A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. url:https://rarediseases.org/rare-diseases/mulibrey-nanism/ A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. GARD:9730 MESH:D052120 NCI:C84735 OMIM:300257 SNOMEDCT_US_2023_03_01:419097006 UMLS_CUI:C0878677 ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II disease_ontology DOID:0050437 OMIM mapping confirmed by DO. [SN]. Danon disease A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. url:https://rarediseases.org/rare-diseases/danon-disease/ A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. GARD:2375 MESH:D052159 NCI:C122805 OMIM:136680 SNOMEDCT_US_2023_03_01:445431000 UMLS_CUI:C0950122 disease_ontology DOID:0050438 OMIM mapping confirmed by DO. [SN]. Frasier syndrome A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. url:https://ghr.nlm.nih.gov/condition/frasier-syndrome A syndrome characterized by a combination of hearing loss and visual impairment. GARD:7843 MESH:D052245 NCI:C85217 OMIM:PS276900 ORDO:886 SNOMEDCT_US_2023_03_01:57838006 UMLS_CUI:C0271097 disease_ontology DOID:0050439 Xref MGI. OMIM mapping confirmed by DO. [LS]. Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. url:http://en.wikipedia.org/wiki/Usher_syndrome A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. GARD:11962 MESH:D052496 NCI:C165527 NCI:C84708 OMIM:PS151660 ORDO:98306 SNOMEDCT_US_2023_03_01:1197745002 SNOMEDCT_US_2023_03_01:49292002 SNOMEDCT_US_2023_03_01:715439000 SNOMEDCT_US_2023_03_01:725035001 UMLS_CUI:C0271694 UMLS_CUI:C1720859 UMLS_CUI:C1720860 UMLS_CUI:C1720861 Dunnigan Syndrome Koberling-Dunnigan Syndrome disease_ontology DOID:0050440 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial partial lipodystrophy A partial 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 A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. ICD10CM:E75.26 MESH:D052517 NCI:C84908 OMIM:272200 SNOMEDCT_US_2023_03_01:254076009 SNOMEDCT_US_2023_03_01:54898003 UMLS_CUI:C0268263 UMLS_CUI:C1720864 Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease disease_ontology DOID:0050441 OMIM mapping confirmed by DO. [SN]. mucosulfatidosis A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. ICD10CM:G60.1 MESH:D052919 NCI:C84789 SNOMEDCT_US_2023_03_01:238062008 UMLS_CUI:C0282527 infantile phytanic acid storage disease disease_ontology DOID:0050444 OMIM mapping confirmed by DO. [SN]. infantile Refsum disease A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. url:https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page A rickets 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. MESH:D053098 NCI:C85234 OMIM:307800 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant disease_ontology DOID:0050445 OMIM mapping confirmed by DO. [SN]. X-linked dominant hypophosphatemic rickets A rickets 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://en.wikipedia.org/wiki/X-linked_hypophosphatemia url:https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia A skin disease characterized by a defect in the normal process of keratinization of the mucosa. GARD:8501 MESH:D053529 NCI:C84760 OMIM:PS193900 ORDO:171723 SNOMEDCT_US_2023_03_01:85388002 UMLS_CUI:C1721005 hereditary mucosal leukokeratosis white sponge nevus of Cannon disease_ontology DOID:0050448 2023 nomenclature update to white sponge nevus. white sponge nevus 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:https://pubmed.ncbi.nlm.nih.gov/29034652/ A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. GARD:10753 MESH:D053549 NCI:C84986 OMIM:PS167200 ORDO:2309 SNOMEDCT_US_2023_03_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007 Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1 disease_ontology DOID:0050449 OMIM mapping confirmed by DO. [SN]. pachyonychia congenita A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). GARD:8547 MESH:D053579 NCI:C84730 OMIM:263800 SNOMEDCT_US_2023_03_01:3188003 UMLS_CUI:C0268450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA disease_ontology DOID:0050450 OMIM mapping confirmed by DO. [SN]. Gitelman syndrome A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. GARD:1030 ICD10CM:I49.8 MESH:D053840 NCI:C142891 OMIM:PS601144 ORDO:130 SNOMEDCT_US_2023_03_01:418818005 UMLS_CUI:C1142166 UMLS_CUI:C1721096 Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome disease_ontology DOID:0050451 OMIM mapping confirmed by DO. [SN]. Brugada syndrome 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 A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. GARD:3588 ICD10CM:M04.1 MESH:D054078 NCI:C84890 OMIM:610377 ORDO:29 SNOMEDCT_US_2023_03_01:124327008 SNOMEDCT_US_2023_03_01:234538002 UMLS_CUI:C0342731 UMLS_CUI:C0398691 UMLS_CUI:C1959626 Mevalonate Kinase Deficiency disease_ontology DOID:0050452 OMIM mapping confirmed by DO. [SN]. mevalonic aciduria A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria 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. GARD:12291 ICD10CM:Q04.3 MESH:D054082 NCI:C103921 OMIM:PS607432 ORDO:102009 SNOMEDCT_US_2023_03_01:204036008 SNOMEDCT_US_2023_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Lissencephaly url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm 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. GARD:9520 ICD10CM:A31.1 MESH:D054312 NCI:C84604 SNOMEDCT_US_2023_03_01:186343005 UMLS_CUI:C0085568 Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer disease_ontology DOID:0050456 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. url:http://en.wikipedia.org/wiki/Buruli_ulcer url:http://www.who.int/mediacentre/factsheets/fs199/en/ A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. GARD:8406 MESH:D054331 NCI:C168988 SNOMEDCT_US_2023_03_01:73465006 UMLS_CUI:C1384583 DEL CASTILLO SYNDROME Germinal Cell Aplasia disease_ontology DOID:0050457 OMIM mapping confirmed by DO. [SN]. Sertoli cell-only syndrome A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. GARD:9884 ICD10CM:C93.3 ICDO:9946/3 MESH:D054429 NCI:C9233 OMIM:607785 SNOMEDCT_US_2023_03_01:445227008 UMLS_CUI:C0349639 disease_ontology DOID:0050458 OMIM mapping confirmed by DO. [SN]. juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. MESH:D054559 NCI:C113750 SNOMEDCT_US_2023_03_01:20165001 UMLS_CUI:C0085681 disease_ontology DOID:0050459 hyperphosphatemia A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. DOID:6684 GARD:7896 ICD10CM:Q93.3 MESH:D054877 NCI:C35528 OMIM:194190 ORDO:280 SNOMEDCT_US_2023_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. GARD:5854 ICD10CM:E77.1 MESH:D054880 NCI:C61273 OMIM:208400 SNOMEDCT_US_2023_03_01:54954004 UMLS_CUI:C0268225 aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency disease_ontology DOID:0050461 OMIM mapping confirmed by DO. [SN]. aspartylglucosaminuria MESH:D054880 A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. GARD:10027 MESH:D055036 NCI:C120205 NCI:C84609 OMIM:114290 ORDO:140 UMLS_CUI:C1861922 UMLS_CUI:C1861923 Acampomelic Campomelic Dysplasia disease_ontology DOID:0050463 OMIM mapping confirmed by DO. [SN]. campomelic dysplasia An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. 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 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. GARD:6426 MESH:D055577 NCI:C84710 OMIM:228000 SNOMEDCT_US_2023_03_01:79935000 UMLS_CUI:C0268255 Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency disease_ontology DOID:0050464 OMIM mapping confirmed by DO. [SN]. Farber lipogranulomatosis A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. url:https://en.wikipedia.org/wiki/Farber_disease A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. GARD:6821 MESH:D055653 NCI:C84905 OMIM:158320 SNOMEDCT_US_2023_03_01:403824007 UMLS_CUI:C1321489 disease_ontology DOID:0050465 OMIM mapping confirmed by DO. [SN]. Muir-Torre syndrome A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. GARD:10788 MESH:D055947 NCI:C75006 ORDO:60030 SNOMEDCT_US_2023_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932 disease_ontology DOID:0050466 Xref MGI. OMIM mapping confirmed by DO. [SN]. Loeys-Dietz syndrome A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. MESH:D056266 NCI:C84696 OMIM:PS133200 ORDO:317 SNOMEDCT_US_2023_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 Erythrokeratodermia Figurata Variabilis Greither Disease disease_ontology DOID:0050467 OMIM mapping confirmed by DO. [SN]. erythrokeratodermia variabilis MESH:D056266 A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis 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. GARD:184 ICD10CM:L60.5 MESH:D056684 NCI:C85238 OMIM:153300 SNOMEDCT_US_2023_03_01:400211001 UMLS_CUI:C0221348 disease_ontology DOID:0050468 OMIM mapping confirmed by DO. [SN]. 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. 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 url:https://www.ncbi.nlm.nih.gov/pubmed/28241848 A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. GARD:1550 MESH:D056685 NCI:C84652 OMIM:218040 SNOMEDCT_US_2023_03_01:205803001 UMLS_CUI:C0587248 FCS SYNDROME Faciocutaneoskeletal Syndrome disease_ontology DOID:0050469 OMIM mapping confirmed by DO. [SN]. Costello syndrome A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. url:https://www.ncbi.nlm.nih.gov/pubmed/17250658 url:https://www.ncbi.nlm.nih.gov/pubmed/907573 A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. MESH:D056731 NCI:C131000 NCI:C84676 OMIM:246200 ORDO:508 SNOMEDCT_US_2023_03_01:111307005 SNOMEDCT_US_2023_03_01:33559001 UMLS_CUI:C0265344 UMLS_CUI:C0271695 Leprechaunism disease_ontology DOID:0050470 OMIM mapping confirmed by DO. [SN]. Donohue syndrome A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. url:https://en.wikipedia.org/wiki/Donohue_syndrome A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. GARD:1119 MESH:D056733 NCI:C4705 OMIM:160980 OMIM:605244 OMIM:608837 ORDO:1359 SNOMEDCT_US_2023_03_01:733491005 UMLS_CUI:C0406810 UMLS_CUI:C1854540 UMLS_CUI:C2607929 Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome disease_ontology DOID:0050471 Xref MGI. OMIM mapping confirmed by DO. [SN]. Carney complex A syndrome 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 A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. GARD:93 ICD10CM:Q84.1 MESH:D056734 NCI:C84894 OMIM:158000 SNOMEDCT_US_2023_03_01:69488000 UMLS_CUI:C0546966 disease_ontology DOID:0050472 OMIM mapping confirmed by DO. [SN]. monilethrix A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. url:https://ghr.nlm.nih.gov/condition/monilethrix A syndrome 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. MESH:D056769 NCI:C84549 OMIM:203800 SNOMEDCT_US_2023_03_01:63702009 UMLS_CUI:C0268425 disease_ontology DOID:0050473 OMIM mapping confirmed by DO. [SN]. Alstrom syndrome MESH:D056769 A syndrome 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 A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. GARD:4936 MESH:D056846 NCI:C85226 OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 OMIM:PS277600 ORDO:3449 SNOMEDCT_US_2023_03_01:205801004 UMLS_CUI:C0265313 UMLS_CUI:C1869114 UMLS_CUI:C1869115 GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy disease_ontology DOID:0050475 Xref MGI. OMIM mapping confirmed by DO. [LS]. Weill-Marchesani syndrome A syndrome characterized by short stature, brachycephaly 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 A 3-methylglutaconic aciduria 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. GARD:5890 ICD10CM:E78.71 MESH:D056889 NCI:C84585 OMIM:302060 SNOMEDCT_US_2023_03_01:297231002 UMLS_CUI:C0574083 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II disease_ontology DOID:0050476 OMIM mapping confirmed by DO. [SN]. Barth syndrome MESH:D056889 A 3-methylglutaconic aciduria 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 A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. GARD:7381 MESH:D056929 NCI:C84827 OMIM:177200 SNOMEDCT_US_2023_03_01:707749005 UMLS_CUI:C0221043 Liddle's syndrome Pseudoaldosteronism disease_ontology DOID:0050477 OMIM mapping confirmed by DO. [SN]. Liddle syndrome A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. ICD10CM:R21 ICD9CM:782.1 MESH:D005076 NCI:C111884 SNOMEDCT_US_2023_03_01:112625008 UMLS_CUI:C0015230 disease_ontology DOID:0050486 exanthem A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. url:https://en.wikipedia.org/wiki/Exanthem A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-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. GARD:13103 ICD10CM:C91.5 ICDO:9827/3 MESH:D015459 NCI:C3184 SNOMEDCT_US_2023_03_01:77430005 UMLS_CUI:C0023493 Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia disease_ontology DOID:0050523 adult T-cell leukemia/lymphoma A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-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 A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. MESH:D014897 NCI:C156310 OMIM:253550 SNOMEDCT_US_2023_03_01:128212001 UMLS_CUI:C0393538 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE SMA II SMA2 spinal muscular atrophy 2 spinal muscular atrophy type II disease_ontology DOID:0050530 OMIM mapping confirmed by DO. [SN]. intermediate spinal muscular atrophy A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. GARD:7887 MESH:D013036 NCI:C84788 ORDO:3451 disease_ontology Infantile spasms syndrome DOID:0050562 West syndrome An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. url:https://rarediseases.org/rare-diseases/west-syndrome/ url:https://www.ncbi.nlm.nih.gov/pubmed/24268986 An intestinal disease characterized by inflammation located in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 NCI:C3138 OMIM:PS266600 SNOMEDCT_US_2023_03_01:155759008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease 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 A tooth disease characterized by failure to develop one or more missing teeth. ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 NCI:C172328 OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600 ORDO:2227 ORDO:99798 SNOMEDCT_US_2023_03_01:234951001 UMLS_CUI:C0399352 familial tooth agenesis hypodontia oligodontia selective tooth agenesis disease_ontology DOID:0050591 Xref MGI. tooth agenesis A tooth disease characterized by failure to develop one or more missing teeth. url:http://en.wikipedia.org/wiki/Hypodontia 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:13692 DOID:13721 DOID:3468 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 MESH:D012554 MESH:D012555 NCI:C35001 NCI:C35002 NCI:C35364 OMIM:181460 ORDO:1247 SNOMEDCT_US_2023_03_01:187114003 SNOMEDCT_US_2023_03_01:52179003 SNOMEDCT_US_2023_03_01:750009 UMLS_CUI:C0036329 UMLS_CUI:C0036330 UMLS_CUI:C0276932 Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica disease_ontology DOID:0050597 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Schistosomiasis A respiratory system cancer that is located_in the paranasal sinuses. DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 MESH:D010255 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 SNOMEDCT_US_2023_03_01:1255092002 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 Epidermoid carcinoma of the paranasal sinus Mucoepidermoid carcinoma of Accessory sinus adenoid cystic carcinoma of Accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma disease_ontology adenoid cystic carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 A hepatobiliary benign neoplasm located_in the biliary tract. DOID:4609 NCI:C4441 SNOMEDCT_US_2023_03_01:126855001 UMLS_CUI:C0345913 extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct disease_ontology DOID:0050625 biliary tract benign neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. GARD:9595 NCI:C125693 OMIM:209300 ORDO:1195 familial hypotransferrinemia disease_ontology DOID:0050649 OMIM mapping confirmed by DO. [SN]. atransferrinemia A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. url:https://en.wikipedia.org/wiki/Atransferrinemia url:https://www.ncbi.nlm.nih.gov/pubmed/29969719 url:https://www.omim.org/entry/209300 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. GARD:5887 ICD10CM:Q87.89 MESH:D006223 NCI:C3939 OMIM:158350 ORDO:109 Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome disease_ontology DOID:0050657 OMIM mapping confirmed by DO. [SN]. Bannayan-Riley-Ruvalcaba syndrome A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. url:https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1488/ url:https://www.ncbi.nlm.nih.gov/pubmed/31062505 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. GARD:304 MESH:C538157 NCI:C116794 OMIM:186580 ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome disease_ontology DOID:0050678 OMIM mapping confirmed by DO. [SN]. Blau syndrome A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. url:http://en.wikipedia.org/wiki/Blau_syndrome url:http://www.omim.org/entry/186580?search=186580&highlight=186580 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. GARD:936 MESH:C536575 NCI:C157122 OMIM:301900 ORDO:127 SNOMEDCT_US_2023_03_01:21634003 UMLS_CUI:C0265339 BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type disease_ontology DOID:0050681 OMIM mapping confirmed by DO. [SN]. 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. 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 A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. snadendla 2011-06-13T01:25:14Z DOID:7137 ICDO:8041/3 NCI:C4099 SNOMEDCT_US_2023_03_01:5958006 UMLS_CUI:C0334239 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma disease_ontology DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma 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. lschriml 2015-03-12T14:32:47Z GARD:13105 MESH:C538212 MESH:C564487 MESH:D057973 NCI:C123260 OMIM:300009 OMIM:300555 ORDO:1652 SNOMEDCT_US_2023_03_01:444645005 SNOMEDCT_US_2023_03_01:717789008 SNOMEDCT_US_2023_03_01:717790004 UMLS_CUI:C0878681 UMLS_CUI:C1845167 UMLS_CUI:C1848336 Dent disease 1 Dent disease 2 Dent's disease disease_ontology DOID:0050699 Dent disease 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 url:https://www.dentdisease.org/ A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2023_03_01:266301006 SNOMEDCT_US_2023_03_01:89461002 SNOMEDCT_US_2023_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy 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/ A substance dependence that is characterized by a physical dependence on nicotine. lschriml 2012-09-05T11:48:42Z EFO:0003768 ICD10CM:F17 MESH:D014029 NCI:C54203 SNOMEDCT_US_2023_03_01:56294008 UMLS_CUI:C0028043 tobacco use disorder disease_ontology DOID:0050742 nicotine dependence A substance dependence that is characterized by a physical dependence on nicotine. url:https://en.wikipedia.org/wiki/Nicotine_dependence A non-Hodgkin lymphoma involving aberrant T-cells. lschriml 2012-09-18T01:57:40Z ICDO:9714/3 NCI:C3720 disease_ontology DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology 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. lschriml 2012-09-18T01:58:25Z GARD:3178 ICDO:9680/3 MESH:D016403 NCI:C80280 DLBCL disease_ontology DOID:0050745 diffuse large B-cell lymphoma 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 url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 url:https://www.ncbi.nlm.nih.gov/pubmed/28487884 A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. lschriml 2012-09-18T02:03:06Z NCI:C4663 disease_ontology DOID:0050750 splenic marginal zone lymphoma 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 A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. lschriml 2012-09-18T02:05:41Z ICDO:9831/3 NCI:C4664 Large granular lymphocytic leukaemia Large granular lymphocytic leukemia T-cell large granular lymphocyte leukaemia disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia 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_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. lschriml 2013-01-16T01:27:31Z GARD:9728 ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 NCI:C84913 OMIM:602668 ORDO:606 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:0050759 myotonic dystrophy type 2 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_material_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://www.ncbi.nlm.nih.gov/books/NBK1466/ A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. lschriml 2013-01-17T12:54:19Z GARD:3956 MESH:D054546 NCI:C84926 OMIM:200150 ORDO:2388 SNOMEDCT_US_2023_03_01:26848004 UMLS_CUI:C0393576 Levine-Critchley syndrome choreo-acanthocytosis disease_ontology DOID:0050766 choreaacanthocytosis A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis url:https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis url:https://www.ncbi.nlm.nih.gov/pubmed/9382101 A pheochromocytoma that arises in extraadrenal sympathetic ganglia. lschriml 2013-02-21T11:51:57Z ICDO:8680/3 MESH:D010235 NCI:C3308 OMIM:115310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 OMIM:PS168000 SNOMEDCT_US_2023_03_01:302833002 UMLS_CUI:C0030421 chemodectoma glomus body tumor disease_ontology DOID:0050773 Xref MGI. paraganglioma A pheochromocytoma that arises in extraadrenal sympathetic ganglia. url:https://en.wikipedia.org/wiki/Paraganglioma url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma A syndrome that is characterized 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. lschriml 2013-10-23T12:51:49Z GARD:7918 ICD10CM:E16.4 MESH:D015043 NCI:C3453 SNOMEDCT_US_2023_03_01:267477002 UMLS_CUI:C0043515 disease_ontology DOID:0050782 Zollinger-Ellison syndrome A syndrome that is characterized 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://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract url:https://www.ncbi.nlm.nih.gov/pubmed/28949124 url:https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome 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. lschriml 2013-11-12T12:26:49Z GARD:8435 MESH:C536665 NCI:C120188 OMIM:261550 SNOMEDCT_US_2023_03_01:702358005 UMLS_CUI:C1849930 persistent Muellerian duct syndrome disease_ontology DOID:0050791 persistent Mullerian duct syndrome 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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 url:https://www.ncbi.nlm.nih.gov/pubmed/20352001 A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. lschriml 2013-11-21T10:47:41Z GARD:4543 MESH:C536662 NCI:C170437 OMIM:264470 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 Peroxisomal acyl-coenzyme A oxidase disease_ontology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency GARD:4543 NCI:C170437 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. url:http://www.omim.org/entry/264470 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 url:https://www.ncbi.nlm.nih.gov/pubmed/11815777 url:https://www.ncbi.nlm.nih.gov/pubmed/17458872 url:https://www.ncbi.nlm.nih.gov/pubmed/18536048 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. lschriml 2014-02-12T01:35:05Z ICD10CM:I44.3 ICD9CM:426.10 MESH:D054537 NCI:C26703 SNOMEDCT_US_2023_03_01:58547007 UMLS_CUI:C0004245 AV block disease_ontology DOID:0050820 atrioventricular block MESH:D054537 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 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. lschriml 2014-03-18T11:58:38Z GARD:29 MESH:D058747 NCI:C75100 OMIM:214800 ORDO:138 SNOMEDCT_US_2023_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 CHARGE association disease_ontology DOID:0050834 CHARGE syndrome MESH:D058747 A syndrome that is characterized 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 A dystonia that affects most or all of the body. lschriml 2014-03-18T01:13:36Z DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 MESH:D004422 MESH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 SNOMEDCT_US_2023_03_01:192852006 SNOMEDCT_US_2023_03_01:192859002 SNOMEDCT_US_2023_03_01:22451001 SNOMEDCT_US_2023_03_01:230321007 SNOMEDCT_US_2023_03_01:267584007 UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 familial dystonia fragments of torsion dystonia disease_ontology Dystonia 12 DOID:0050835 MESH:C538001 added from NeuroDevNet [WAK]. generalized dystonia A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Dystonia 12 MESH:C538001 A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.3 ICD9CM:780.57 MESH:D012891 NCI:C26884 SNOMEDCT_US_2023_03_01:206750008 UMLS_CUI:C0037315 disease_ontology DOID:0050847 sleep apnea 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/ 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. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.33 ICD9CM:327.23 MESH:D020181 NCI:C116337 OMIM:107650 SNOMEDCT_US_2023_03_01:194441007 UMLS_CUI:C0520679 obstructive sleep apnea syndrome disease_ontology DOID:0050848 Xref MGI. obstructive sleep apnea 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 A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. lschriml 2014-04-15T03:53:41Z GARD:8472 ICD10CM:M04.2 MEDDRA:10064569 MESH:D056587 NCI:C119054 OMIM:191900 ORDO:575 SNOMEDCT_US_2023_03_01:15123008 UMLS_CUI:C0268390 MWS neutrophilic urticaria disease_ontology DOID:0050854 Muckle-Wells syndrome A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/11687797 url:https://www.ncbi.nlm.nih.gov/pubmed/11992256 A colorectal carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-05-05T03:16:55Z NCI:C5105 SNOMEDCT_US_2023_03_01:408645001 UMLS_CUI:C1319315 disease_ontology DOID:0050861 colorectal adenocarcinoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma A head and neck squamous cell carcinoma that is located_in the tongue. lschriml 2014-05-12T02:38:44Z NCI:C4648 SNOMEDCT_US_2023_03_01:276952000 UMLS_CUI:C0349566 disease_ontology DOID:0050865 tongue squamous cell carcinoma A head and neck squamous cell carcinoma that is located_in the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. lschriml 2014-07-09T01:28:09Z GARD:6002 MESH:D016767 NCI:C84619 SNOMEDCT_US_2023_03_01:717232005 UMLS_CUI:C0162510 disease_ontology DOID:0050876 Caroli disease 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 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. lschriml 2014-10-06T14:36:37Z DOID:0060105 DOID:168 DOID:3858 DOID:4981 GARD:7005 ICDO:9470/3 MESH:D008527 MESH:D018242 NCI:C27294 NCI:C3222 NCI:C3716 OMIM:155255 ORDO:616 SNOMEDCT_US_2023_03_01:189925001 SNOMEDCT_US_2023_03_01:443333004 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor disease_ontology DOID:0050902 OMIM mapping confirmed by DO. [SN]. medulloblastoma 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 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. lschriml 2014-10-13T14:17:40Z ICDO:9699/3 NCI:C3898 OMIM:137245 MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma disease_ontology DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. url:http://www.cancer.gov/dictionary?CdrID=45774 url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T15:09:51Z NCI:C5546 rectum adenoma disease_ontology DOID:0050915 rectal adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma A breast carcinoma that derives_from breast lobules (milk glands). lschriml 2014-10-22T13:05:34Z ICDO:8520/3 NCI:C3771 disease_ontology DOID:0050938 breast lobular carcinoma 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 A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in 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:5811 GARD:5618 MESH:D053632 NCI:C4682 OMIM:300400 SNOMEDCT_US_2023_03_01:203592006 UMLS_CUI:C1279481 SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia disease_ontology DOID:0060013 OMIM mapping confirmed by DO. [LS]. X-linked severe combined immunodeficiency A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in 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 url:https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in 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:1226 GARD:8625 MESH:C538361 NCI:C27070 OMIM:267500 SNOMEDCT_US_2023_03_01:111584000 UMLS_CUI:C0272167 De Vaal disease disease_ontology aleukocytosis DOID:0060020 OMIM mapping confirmed by DO. [SN]. reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in 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? A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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. GARD:10579 NCI:C176416 OMIM:606843 ORDO:101090 UMLS_CUI:C1720957 CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency disease_ontology DOID:0060023 immunodeficiency with hyper IgM type 3 GARD:10579 NCI:C176416 OMIM:606843 ORDO:101090 UMLS_CUI:C1720957 A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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:https://www.ncbi.nlm.nih.gov/pubmed/11675497 A syndrome 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 has_material_basis_in mutations in the IRF6 gene on chromosome 1. emitraka 2015-02-04T14:16:39Z GARD:3242 MESH:C562509 NCI:C118786 OMIM:119500 OMIM:263650 ORDO:1300 ORDO:294963 SNOMEDCT_US_2023_03_01:205820002 UMLS_CUI:C0265259 facio-genito-popliteal syndrome popliteal web syndrome disease_ontology DOID:0060055 NT MGI. popliteal pterygium syndrome A syndrome 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 has_material_basis_in mutations in the IRF6 gene on chromosome 1. url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2352260 url:https://www.ncbi.nlm.nih.gov/pubmed/4384166 A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:1033 DOID:353 ICD10CM:C85.9 ICDO:9590/3 MESH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2023_03_01:118600007 SNOMEDCT_US_2023_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 lymphoid cancer disease_ontology DOID:0060058 lymphoma 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 A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. ICD10CM:C85.9 ICDO:9591/3 MESH:D008228 NCI:C3211 OMIM:605027 ORDO:547 SNOMEDCT_US_2023_03_01:118601006 UMLS_CUI:C0024305 disease_ontology DOID:0060060 OMIM mapping confirmed by DO. [LS]. non-Hodgkin lymphoma 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 A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells. GARD:6226 MESH:D016410 NCI:C3467 cutaneous T cell lymphoma cutaneous T-cell lymphoma disease_ontology DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells. url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. lschriml 2011-07-21T02:24:10Z ICDO:9473/3 NCI:C5398 CNS embryonal tumour, NEC/NOS central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:0060103 central nervous system embryonal tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor A gastrointestinal system cancer that is located_in the pharynx. lschriml 2011-07-27T01:26:34Z MESH:D010610 NCI:C3325 SNOMEDCT_US_2023_03_01:126685009 UMLS_CUI:C0031347 pharyngeal neoplasm pharynx neoplasm disease_ontology pharyngeal cancer DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx A musculoskeletal system benign neoplasm that is located_in connective tissue. lschriml 2011-07-27T02:35:57Z DOID:177 MESH:D012983 NCI:C3377 SNOMEDCT_US_2023_03_01:126600002 UMLS_CUI:C0037579 mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue disease_ontology DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. lschriml 2011-08-22T11:23:09Z ICD10CM:C88.2 ICDO:9762/3 MESH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 SNOMEDCT_US_2023_03_01:61493004 SNOMEDCT_US_2023_03_01:6381009 SNOMEDCT_US_2023_03_01:68979007 UMLS_CUI:C0018852 UMLS_CUI:C0018854 UMLS_CUI:C0242310 disease_ontology DOID:0060125 heavy chain disease MESH:D006362 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 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. lschriml 2011-08-22T12:04:56Z GARD:5838 ICD10CM:R48.2 MESH:D001072 NCI:C180557 SNOMEDCT_US_2023_03_01:271724003 UMLS_CUI:C0003635 disease_ontology DOID:0060135 apraxia MESH:D001072 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 A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. lschriml 2011-08-29T01:15:14Z GARD:7674 MESH:D014897 NCI:C85076 ORDO:70 UMLS_CUI:C0700595 spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy disease_ontology DOID:0060160 childhood spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_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. lschriml 2011-08-29T01:31:03Z GARD:6818 MESH:D055534 NCI:C85233 OMIM:313200 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy disease_ontology DOID:0060161 Kennedy's disease 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 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. lschriml 2011-08-29T01:41:48Z GARD:5643 MESH:D020191 NCI:C122653 OMIM:125370 SNOMEDCT_US_2023_03_01:702422004 UMLS_CUI:C0751781 DRPLA Haw River Syndrome Naito-Oyanagi disease disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy MESH:D020191 NCI:C122653 UMLS_CUI:C0751781 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 An inflammatory bowel disease that involves inflammation located_in colon. emitraka 2014-09-12T14:31:45Z EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 SNOMEDCT_US_2023_03_01:64226004 UMLS_CUI:C0009319 disease_ontology DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. emitraka 2014-09-12T14:49:18Z ICD10CM:K52.83 MESH:D046728 NCI:C38504 ORDO:58220 SNOMEDCT_US_2023_03_01:235753003 UMLS_CUI:C0400821 disease_ontology DOID:0060182 microscopic colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. url:http://en.wikipedia.org/wiki/Microscopic_colitis url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. emitraka 2014-09-12T14:56:28Z GARD:6135 ICD10CM:K52.831 MEDDRA:10048928 MESH:D046729 NCI:C27021 SNOMEDCT_US_2023_03_01:19311003 UMLS_CUI:C0238067 disease_ontology 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. collagenous colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. url:http://en.wikipedia.org/wiki/Collagenous_colitis url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). emitraka 2014-09-12T14:58:50Z GARD:6939 ICD10CM:K52.832 MEDDRA:10025268 MESH:D046730 NCI:C27147 ORDO:65279 SNOMEDCT_US_2023_03_01:31437008 UMLS_CUI:C0400822 disease_ontology DOID:0060184 The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. lymphocytic colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). url:http://en.wikipedia.org/wiki/Lymphocytic_colitis url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an overgrowth of Clostridium difficile bacteria. emitraka 2014-09-12T15:01:17Z ICD10CM:A04.7 MEDDRA:10009657 MESH:D004761 NCI:C128347 SNOMEDCT_US_2023_03_01:266525002 SNOMEDCT_US_2023_03_01:397683000 SNOMEDCT_US_2023_03_01:51180003 UMLS_CUI:C0014358 UMLS_CUI:C0085819 UMLS_CUI:C1257843 UMLS_CUI:C1257844 UMLS_CUI:C1257845 Pseudomembranous colitis disease_ontology DOID:0060185 Clostridium difficile colitis 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 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. emitraka 2014-09-15T11:40:07Z ICD10CM:K52.9 MEDDRA:10021312 MESH:D007079 NCI:C84782 SNOMEDCT_US_2023_03_01:52457000 UMLS_CUI:C0020877 Crohn's ileitis disease_ontology DOID:0060189 ileitis 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:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview 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. emitraka 2014-09-15T12:50:24Z ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C37262 SNOMEDCT_US_2023_03_01:7620006 UMLS_CUI:C0156147 disease_ontology DOID:0060192 OWL classification. Crohn's colitis 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:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. emitraka 2014-09-18T15:02:17Z GARD:5885 ICD10CM:G37.0 ICD9CM:341.1 MESH:D002549 NCI:C84670 SNOMEDCT_US_2023_03_01:44875002 UMLS_CUI:C0007795 Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis disease_ontology DOID:0060215 Similar to standard multiple sclerosis. Balo concentric sclerosis A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis url:https://pubmed.ncbi.nlm.nih.gov/32140322/ url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/ An 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. emitraka 2014-09-23T12:31:25Z GARD:6125 MEDDRA:10059200 NCI:C84644 ORDO:98980 SNOMEDCT_US_2023_03_01:129624009 UMLS_CUI:C1168173 disease_ontology DOID:0060217 Cogan-Reese syndrome An 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 A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. emitraka 2014-09-24T16:30:36Z GARD:12430 ICD10CM:M34.1 MESH:D017675 NCI:C70646 SNOMEDCT_US_2023_03_01:31848007 SNOMEDCT_US_2023_03_01:62382002 UMLS_CUI:C0206138 UMLS_CUI:C1527226 disease_ontology DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. url:http://en.wikipedia.org/wiki/CREST_syndrome 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. emitraka 2015-01-16T14:55:21Z ICD9CM:427.31 MESH:D001281 NCI:C50466 SNOMEDCT_US_2023_03_01:266306001 UMLS_CUI:C0004238 A-fib AFib disease_ontology DOID:0060224 atrial fibrillation MESH:D001281 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 An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. emitraka 2015-01-23T16:06:03Z GARD:6003 MESH:C563187 NCI:C98873 OMIM:201000 OMIM:614976 ORDO:65759 SNOMEDCT_US_2023_03_01:403767009 UMLS_CUI:C1275078 acrocephalopolysyndactyly type II disease_ontology DOID:0060234 NT MGI. Carpenter syndrome 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 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. emitraka 2015-01-23T16:35:22Z MESH:C535589 NCI:C114766 OMIM:255110 OMIM:600649 OMIM:608836 ORDO:157 SNOMEDCT_US_2023_03_01:238002005 UMLS_CUI:C0342790 CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency disease_ontology DOID:0060235 NT MGI. 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 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. emitraka 2015-01-27T15:51:56Z GARD:8414 ICD10CM:Q38.0 MESH:C536528 MESH:C563529 NCI:C74986 OMIM:119300 OMIM:606713 ORDO:888 SNOMEDCT_US_2023_03_01:79261008 UMLS_CUI:C0175697 UMLS_CUI:C1834339 disease_ontology lip-pit syndrome DOID:0060239 NT MGI. Van der Woude 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 A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. emitraka 2015-01-27T16:57:56Z GARD:5087 MESH:C538153 NCI:C75003 OMIM:186000 OMIM:608180 OMIM:610234 ORDO:295195 SNOMEDCT_US_2023_03_01:715724002 UMLS_CUI:C2699746 syndactyly type 2 disease_ontology DOID:0060242 NT MGI. synpolydactyly A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. url:http://en.wikipedia.org/wiki/Synpolydactyly url:https://www.ncbi.nlm.nih.gov/pubmed/18177473 url:https://www.ncbi.nlm.nih.gov/pubmed/8817328 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. emitraka 2015-01-28T16:04:54Z ICD10CM:F80.81 MESH:D013342 NCI:C35043 OMIM:184450 OMIM:609261 OMIM:614655 OMIM:614668 SNOMEDCT_US_2023_03_01:191987007 SNOMEDCT_US_2023_03_01:229631007 SNOMEDCT_US_2023_03_01:29916003 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627 familial persistent stuttering stammering disease_ontology DOID:0060243 NT MGI. stuttering 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 A hereditary spastic paraplegia that is 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. emitraka 2015-01-28T16:49:53Z GARD:6986 MESH:C536029 NCI:C129930 OMIM:303350 ORDO:2466 SNOMEDCT_US_2023_03_01:716996008 UMLS_CUI:C0795953 CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1 disease_ontology DOID:0060246 NT MGI. MASA syndrome A hereditary spastic paraplegia that is 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 A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. emitraka 2015-01-29T15:15:46Z GARD:7649 MESH:C537340 NCI:C118787 OMIM:312870 ORDO:373 UMLS_CUI:C0796154 DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome disease_ontology DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. 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://pubmed.ncbi.nlm.nih.gov/36720533/ A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. emitraka 2015-01-29T15:44:16Z ICD10CM:M41.9 MESH:D012600 NCI:C78603 SNOMEDCT_US_2023_03_01:36773001 UMLS_CUI:C0036439 disease_ontology DOID:0060249 NT MGI add. scoliosis MESH:D012600 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://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 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. emitraka 2015-01-29T16:02:45Z GARD:4771 MESH:C537525 NCI:C131133 OMIM:PS269500 ORDO:3152 SNOMEDCT_US_2023_03_01:17568006 UMLS_CUI:C0265301 disease_ontology DOID:0060251 sclerosteosis 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:https://www.ncbi.nlm.nih.gov/pubmed/11836356 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. emitraka 2015-01-29T16:42:52Z GARD:312 ICD10CM:Q87.19 MESH:C562492 NCI:C85048 OMIM:PS268310 ORDO:97360 SNOMEDCT_US_2023_03_01:76520005 UMLS_CUI:C0265205 Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome disease_ontology DOID:0060254 NT MGI. Robinow 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 A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. emitraka 2015-01-30T16:08:47Z MESH:C535729 NCI:C118435 OMIM:127400 ORDO:41 SNOMEDCT_US_2023_03_01:239085000 UMLS_CUI:C0406775 reticulate acropigmentation of Dohi disease_ontology DOID:0060257 NT MGI. dyschromatosis symmetrica hereditaria 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:https://www.ncbi.nlm.nih.gov/pubmed/22974014 An eye disease characterized by the drooping or falling of the upper or lower eyelid. emitraka 2015-01-30T16:46:53Z ICD10CM:H02.4 ICD9CM:374.3 MESH:D001763 NCI:C27298 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0005745 blepharoptosis drooping eyelid disease_ontology DOID:0060260 NT MGI add. ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 A ptosis characterized by eyelid drop present at birth. emitraka 2015-01-30T16:53:38Z ICD10CM:Q10.0 ICD9CM:743.61 NCI:C27049 OMIM:178300 OMIM:300245 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0266573 disease_ontology DOID:0060261 NT MGI. congenital ptosis A ptosis characterized by eyelid drop present at birth. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 url:https://eyewiki.aao.org/Ptosis,_Congenital A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 NCI:C34631 OMIM:609918 OMIM:609919 OMIM:611465 SNOMEDCT_US_2023_03_01:155807008 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease 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 A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. emitraka 2015-02-04T16:21:06Z MESH:D054514 NCI:C161554 OMIM:221900 OMIM:611308 ORDO:91495 SNOMEDCT_US_2023_03_01:69927002 UMLS_CUI:C0266568 disease_ontology DOID:0060282 NT MGI. persistent hyperplastic primary vitreous A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. url:https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. emitraka 2015-02-04T16:30:50Z GARD:7337 ICD10CM:D59.5 ICD10CM:D59.6 MESH:D006457 NCI:C61233 OMIM:300818 OMIM:615399 ORDO:447 SNOMEDCT_US_2023_03_01:1468004 SNOMEDCT_US_2023_03_01:154805009 SNOMEDCT_US_2023_03_01:191226006 UMLS_CUI:C0019050 UMLS_CUI:C0024790 UMLS_CUI:C0086774 disease_ontology DOID:0060284 NT MGI. paroxysmal nocturnal hemoglobinuria An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. url:https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. emitraka 2015-02-09T16:53:42Z GARD:1996 MESH:C535730 NCI:C173131 OMIM:127500 OMIM:612715 OMIM:615402 ORDO:241 UMLS_CUI:C2930995 disease_ontology DOID:0060304 NT MGI. dyschromatosis universalis hereditaria 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:https://www.ncbi.nlm.nih.gov/pubmed/12372090 A cheilitis characterized by inflammation of one or both of the corners of the mouth. emitraka 2015-02-19T15:57:00Z ICD10CM:K13.0 NCI:C112198 SNOMEDCT_US_2023_03_01:200729007 UMLS_CUI:C0221237 angular cheilosis angular stomatitis cheilosis commissural cheilitis disease_ontology DOID:0060312 PRISM. angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth. url:http://en.wikipedia.org/wiki/Angular_cheilitis 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. emitraka 2015-02-23T15:55:53Z ICD10CM:K13.3 MESH:D017733 NCI:C3722 SNOMEDCT_US_2023_03_01:58918007 UMLS_CUI:C0206186 hairy leukoplakia disease_ontology DOID:0060315 oral 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 An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. emitraka 2015-03-09T17:15:07Z ICD10CM:Q87.0 MESH:D009958 NCI:C75481 OMIM:311200 ORDO:2750 SNOMEDCT_US_2023_03_01:1779005 SNOMEDCT_US_2023_03_01:403773005 SNOMEDCT_US_2023_03_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460 Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I disease_ontology DOID:0060316 orofaciodigital syndrome I An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance 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. emitraka 2015-02-23T16:58:49Z ICD10CM:J85.2 ICD9CM:513.0 MESH:D008169 NCI:C99090 SNOMEDCT_US_2023_03_01:155618005 UMLS_CUI:C0024110 disease_ontology DOID:0060317 lung abscess 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 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. emitraka 2015-02-24T16:50:50Z GARD:538 ICD10CM:C92.4 MESH:D015473 NCI:C3182 OMIM:612376 ORDO:520 SNOMEDCT_US_2023_03_01:28950004 UMLS_CUI:C0023487 acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia disease_ontology DOID:0060318 acute promyelocytic leukemia 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 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. emitraka 2015-02-25T15:12:30Z ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2023_03_01:30298009 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology DOID:0060319 cardiac arrest 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. url:http://en.wikipedia.org/wiki/Cardiac_arrest url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. emitraka 2015-02-25T15:54:50Z ICD10CM:K40 ICD9CM:550 MESH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 SNOMEDCT_US_2023_03_01:155738001 SNOMEDCT_US_2023_03_01:196800008 UMLS_CUI:C0019294 UMLS_CUI:C0019295 UMLS_CUI:C0019296 disease_ontology DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. url:http://en.wikipedia.org/wiki/Inguinal_hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. emitraka 2015-02-25T15:58:35Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology DOID:0060321 umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 url:https://en.wikipedia.org/wiki/Umbilical_hernia 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. emitraka 2015-02-25T16:29:09Z ICD10CM:H70.9 ICD9CM:383.9 MESH:D008417 NCI:C128368 SNOMEDCT_US_2023_03_01:155230007 UMLS_CUI:C0024904 disease_ontology DOID:0060322 mastoiditis 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 A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. emitraka 2015-02-25T17:47:25Z ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2023_03_01:268308005 SNOMEDCT_US_2023_03_01:7096005 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology DOID:0060326 myelomeningocele 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 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. emitraka 2015-02-25T17:54:05Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 OMIM:164750 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 omphalocoele disease_ontology DOID:0060327 omphalocele 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 A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. elvira 2015-02-25T19:27:50Z GARD:6318 ICD10CM:O00 ICD9CM:633 MESH:D011271 NCI:C34945 SNOMEDCT_US_2023_03_01:156080003 UMLS_CUI:C0032987 eccyesis disease_ontology DOID:0060329 ectopic pregnancy 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 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. emitraka 2015-05-28T16:26:12Z MESH:D016917 NCI:C3477 SNOMEDCT_US_2023_03_01:58213005 UMLS_CUI:C0085434 disease_ontology DOID:0060345 bacillary angiomatosis 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. url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis url:https://www.ncbi.nlm.nih.gov/pubmed/9407154 A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. elvira 2015-06-19T20:05:16Z GARD:411 MESH:C537157 NCI:C133727 OMIM:241410 ORDO:2323 SNOMEDCT_US_2023_03_01:1197148005 UMLS_CUI:C1855840 HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures disease_ontology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15645691 url:https://www.ncbi.nlm.nih.gov/pubmed/24339556 A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. elvira 2015-07-02T16:06:22Z GARD:10666 GARD:546 MESH:C538228 NCI:C121564 OMIM:614723 SNOMEDCT_US_2023_03_01:11852004 UMLS_CUI:C0268120 UMLS_CUI:C3665382 2,8-dihydroxyadenine urolithiasis APRT deficiency disease_ontology DOID:0060350 adenine phosphoribosyltransferase deficiency A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency url:https://pubmed.ncbi.nlm.nih.gov/22700886/ url:https://pubmed.ncbi.nlm.nih.gov/8864750/ url:https://www.ncbi.nlm.nih.gov/pubmed/20150536 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. elvira 2015-07-14T16:49:09Z DOID:0070075 GARD:8672 MESH:C563043 NCI:C129976 OMIM:610253 ORDO:261494 UMLS_CUI:C0795833 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome disease_ontology DOID:0060352 Kleefstra syndrome 1 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15264279 url:https://www.ncbi.nlm.nih.gov/pubmed/16826528 url:https://www.ncbi.nlm.nih.gov/pubmed/21245904 A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. elvira 2015-08-19T16:22:27Z GARD:448 MESH:C535566 NCI:C138174 OMIM:242840 ORDO:1493 SNOMEDCT_US_2023_03_01:719824001 UMLS_CUI:C1855772 immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum disease_ontology DOID:0060356 Vici syndrome A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. url:https://en.wikipedia.org/wiki/Vici_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21965116 url:https://www.ncbi.nlm.nih.gov/pubmed/23222957 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 has_material_basis_in 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. elvira 2015-08-20T16:23:47Z ICD10CM:E71.313 MESH:D054069 NCI:C84907 OMIM:231680 ORDO:26791 SNOMEDCT_US_2023_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2 disease_ontology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency 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 has_material_basis_in 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. url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 url:https://www.ncbi.nlm.nih.gov/pubmed/12815589 url:https://www.ncbi.nlm.nih.gov/pubmed/22580358 A Joubert syndrome that is characterized by orofaciodigital defect. elvira 2015-09-18T15:00:19Z GARD:4412 MESH:C536531 NCI:C124841 OMIM:277170 ORDO:2754 SNOMEDCT_US_2023_03_01:721873007 UMLS_CUI:C2745997 OFD6 Polydactyly cleft lip palate psychomotor retardation Varadi syndrome Varadi-Papp syndrome orofaciodigital syndrome VI disease_ontology DOID:0060376 Joubert syndrome with orofaciodigital defect A Joubert syndrome that is characterized by orofaciodigital defect. url:https://www.ncbi.nlm.nih.gov/pubmed/23716954 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. elvira 2015-09-24T16:23:12Z GARD:914 MESH:C537914 NCI:C131420 OMIM:215045 ORDO:50945 UMLS_CUI:C1859148 Blomstrand lethal chondrodysplasia disease_ontology DOID:0060387 chondrodysplasia Blomstrand type An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. url:https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. elvira 2015-09-28T17:01:47Z GARD:8631 MESH:C538309 NCI:C84521 OMIM:146390 ORDO:1598 SNOMEDCT_US_2023_03_01:205632001 UMLS_CUI:C0432442 18p- syndrome De Grouchy syndrome monosomy 18p disease_ontology DOID:0060406 chromosome 18p deletion syndrome A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. url:https://pubmed.ncbi.nlm.nih.gov/16691587 A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. elvira 2015-09-28T17:14:10Z GARD:6082 MESH:C535362 NCI:C74983 OMIM:607872 ORDO:1606 SNOMEDCT_US_2023_03_01:699306003 UMLS_CUI:C1842870 1p36 deletion syndrome deletion 1p36 monosomy 1p36 disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. url:https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. elvira 2015-10-06T16:24:18Z MESH:C535963 NCI:C130985 OMIM:112240 OMIM:616294 ORDO:2050 disease_ontology DOID:0060438 Cole-Carpenter syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. url:https://www.ncbi.nlm.nih.gov/pubmed/10842295 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 has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. elvira 2015-10-13T15:04:00Z GARD:3335 MESH:C562687 NCI:C121563 OMIM:222700 ORDO:470 SNOMEDCT_US_2023_03_01:13138006 UMLS_CUI:C0268647 LPI dibasic amino aciduria II hyperdibasic aminoaciduria disease_ontology DOID:0060439 lysinuric protein intolerance 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 has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. 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 url:https://www.ncbi.nlm.nih.gov/pubmed/1155480 An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. elvira 2015-10-16T17:26:37Z MESH:C535480 NCI:C142805 OMIM:204870 ORDO:98957 SNOMEDCT_US_2023_03_01:419900000 UMLS_CUI:C0339273 GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea disease_ontology DOID:0060449 gelatinous drop-like corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. url:https://pubmed.ncbi.nlm.nih.gov/10192395/ An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. elvira 2015-10-16T17:45:27Z GARD:9688 ICD10CM:H18.52 ICD9CM:371.51 MESH:D053559 NCI:C84795 OMIM:PS122100 ORDO:98954 SNOMEDCT_US_2023_03_01:193833008 UMLS_CUI:C0339277 MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy disease_ontology DOID:0060451 Meesmann corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. url:https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. elvira 2015-11-02T16:22:42Z GARD:1818 MESH:C535943 NCI:C124056 OMIM:251450 OMIM:615777 ORDO:1425 SNOMEDCT_US_2023_03_01:254099008 UMLS_CUI:C0432242 Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification disease_ontology DOID:0060462 Desbuquois dysplasia An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. url:https://www.ncbi.nlm.nih.gov/pubmed/19853239 url:https://www.ncbi.nlm.nih.gov/pubmed/21037275 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. elvira 2015-11-04T14:54:36Z NCI:C45716 SNOMEDCT_US_2023_03_01:733922002 UMLS_CUI:C1707291 nuclear protein in testis midline carcinoma disease_ontology DOID:0060463 NUT 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. url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma url:https://omim.org/entry/608749 url:https://omim.org/entry/608963 url:https://www.ncbi.nlm.nih.gov/pubmed/21221870 url:https://www.ncbi.nlm.nih.gov/pubmed/25685583 url:https://www.ncbi.nlm.nih.gov/pubmed/26378054 url:https://www.ncbi.nlm.nih.gov/pubmed/26402248 A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. elvira 2015-11-17T16:06:23Z GARD:6666 ICD10CM:Q87.2 MESH:C535326 NCI:C125592 OMIM:142900 ORDO:392 SNOMEDCT_US_2023_03_01:205814003 UMLS_CUI:C0265264 atrio-digital syndrome atriodigital dysplasia heart-hand syndrome disease_ontology DOID:0060468 Holt-Oram syndrome A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/12223419 url:https://www.ncbi.nlm.nih.gov/pubmed/12436037 A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. elvira 2015-11-17T16:22:00Z ICD10CM:Q93.88 MESH:D054221 NCI:C124852 OMIM:247200 ORDO:531 SNOMEDCT_US_2023_03_01:253148005 UMLS_CUI:C0265219 MDS Miller-Dieker syndrome disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21239872 url:https://www.ncbi.nlm.nih.gov/pubmed/9473821 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. elvira 2015-11-17T16:47:50Z MESH:C536525 NCI:C98930 OMIM:609442 ORDO:1906 SNOMEDCT_US_2023_03_01:205792006 UMLS_CUI:C0236026 fetal valproic acid syndrome foetal valproate syndrome foetal valproic acid syndrome disease_ontology DOID:0060471 fetal valproate syndrome A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. url:https://www.ncbi.nlm.nih.gov/pubmed/17090909 url:https://www.ncbi.nlm.nih.gov/pubmed/25400349 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. elvira 2015-11-18T16:21:35Z GARD:6810 MESH:C537705 NCI:C124837 OMIM:147920 OMIM:300867 ORDO:2322 SNOMEDCT_US_2023_03_01:205805008 UMLS_CUI:C0796004 KMS Kabuki make up syndrome Niikawa-Kuroki syndrome disease_ontology DOID:0060473 Kabuki syndrome 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. url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome url:https://en.wikipedia.org/wiki/Kabuki_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25281733 url:https://www.ncbi.nlm.nih.gov/pubmed/25972376 url:https://www.ncbi.nlm.nih.gov/pubmed/26512256 A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. GARD:9673 MESH:C536990 NCI:C74999 OMIM:235730 ORDO:2152 SNOMEDCT_US_2023_03_01:703535000 UMLS_CUI:C1856113 Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease disease_ontology DOID:0060485 Mowat-Wilson syndrome A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17958891 url:https://www.ncbi.nlm.nih.gov/pubmed/23466526 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. GARD:4372 MESH:C537403 NCI:C129872 OMIM:610954 ORDO:2896 SNOMEDCT_US_2023_03_01:702344008 UMLS_CUI:C1970431 disease_ontology DOID:0060488 Pitt-Hopkins syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17436255 url:https://www.ncbi.nlm.nih.gov/pubmed/26621827 url:https://www.ncbi.nlm.nih.gov/pubmed/728011 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. GARD:4984 MESH:C536629 NCI:C135087 OMIM:242900 ORDO:1830 SNOMEDCT_US_2023_03_01:723995003 UMLS_CUI:C0877024 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome disease_ontology DOID:0060490 Schimke immuno-osseous dysplasia A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1376/ url:https://www.ncbi.nlm.nih.gov/pubmed/10653321 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. ICDO:8576/3 NCI:C66950 disease_ontology DOID:0060534 hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. url:https://en.wikipedia.org/wiki/Adenocarcinoma A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. breast tumor luminal luminal breast cancer NCI:C53554 UMLS_CUI:C3642345 Luminal A Breast Carcinoma disease_ontology DOID:0060548 luminal breast carcinoma A A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. ICD10CM:D68.01 MESH:D056725 NCI:C131685 OMIM:193400 SNOMEDCT_US_2023_03_01:128106003 UMLS_CUI:C1264039 VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I disease_ontology DOID:0060573 von Willebrand's disease 1 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/16889557 url:https://www.ncbi.nlm.nih.gov/pubmed/8456432 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. GARD:9297 MESH:C536697 NCI:C176819 OMIM:193670 SNOMEDCT_US_2023_03_01:234571003 UMLS_CUI:C0472817 WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome disease_ontology DOID:0060591 WHIM syndrome An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. url:https://en.wikipedia.org/wiki/WHIM_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10767001 An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. NCI:C9143 B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia disease_ontology DOID:0060592 B-cell adult acute lymphocytic leukemia An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. DOID:8747 ICD10CM:C92.2 ICD9CM:205.2 ICDO:9876/3 MESH:D054438 NCI:C3519 ORDO:98824 SNOMEDCT_US_2023_03_01:128826001 UMLS_CUI:C1292772 aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia disease_ontology DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 url:https://www.ncbi.nlm.nih.gov/pubmed/29226717 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. MESH:C536138 NCI:C98982 OMIM:155310 ORDO:2241 SNOMEDCT_US_2023_03_01:253781004 UMLS_CUI:C1608393 Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy disease_ontology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. url:https://en.wikipedia.org/wiki/Berdon_syndrome url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21792650 url:https://www.ncbi.nlm.nih.gov/pubmed/25407000 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. GARD:1280 ICD10CM:K83.01 MESH:D015209 NCI:C4828 OMIM:613806 ORDO:171 SNOMEDCT_US_2023_03_01:4032000 UMLS_CUI:C0566602 disease_ontology DOID:0060643 primary sclerosing cholangitis A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. url:https://www.ncbi.nlm.nih.gov/pubmed/7877651 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. DOID:1699 ICD10CM:Q80.2 MESH:D017490 NCI:C84805 OMIM:PS242300 ORDO:281097 SNOMEDCT_US_2023_03_01:12215009 UMLS_CUI:C0079154 ARCI lamellar ichthyosis non bullous congenital ichthyosiform erythroderma disease_ontology DOID:0060655 autosomal recessive congenital ichthyosis An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. url:https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance url:https://www.ncbi.nlm.nih.gov/books/NBK1420/ url:https://www.ncbi.nlm.nih.gov/pubmed/20643494 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. GARD:7097 MESH:C537369 NCI:C84904 OMIM:602849 ORDO:53271 SNOMEDCT_US_2023_03_01:440350001 UMLS_CUI:C1864436 FGFR3-related craniosynostosis disease_ontology DOID:0060703 Muenke Syndrome A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18000976 url:https://www.ncbi.nlm.nih.gov/pubmed/9042914 A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. GARD:4271 ICD10CM:E07.1 MESH:C536648 NCI:C121745 OMIM:274600 ORDO:705 SNOMEDCT_US_2023_03_01:70348004 UMLS_CUI:C0271829 TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B disease_ontology DOID:0060744 Pendred Syndrome A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. url:https://www.ncbi.nlm.nih.gov/pubmed/9398842 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. GARD:10578 NCI:C129074 OMIM:605258 ORDO:101089 UMLS_CUI:C1720956 AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2 disease_ontology DOID:0060758 immunodeficiency with hyper-IgM type 2 ORDO:183666 GARD:10578 NCI:C129074 OMIM:605258 ORDO:101089 UMLS_CUI:C1720956 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11007475 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. GARD:10580 MESH:C564277 NCI:C564277 OMIM:608184 ORDO:101091 UMLS_CUI:C1842413 HIGM4 hyper-IgM syndrome type 4 disease_ontology DOID:0060760 immunodeficiency with hyper-IgM type 4 ORDO:183666 GARD:10580 MESH:C564277 NCI:C564277 OMIM:608184 ORDO:101091 UMLS_CUI:C1842413 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. url:https://www.ncbi.nlm.nih.gov/pubmed/12840068 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). MESH:C536189 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome disease_ontology DOID:0060782 EEC syndrome MESH:C536189 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. MESH:C536189 NCI:C148261 OMIM:604292 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 3 EEC3 disease_ontology DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10535733 url:https://www.ncbi.nlm.nih.gov/pubmed/8737655 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. MESH:C536189 NCI:C148261 OMIM:129900 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 1 EEC1 disease_ontology DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1424230 url:https://www.ncbi.nlm.nih.gov/pubmed/5454938 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. DOID:0080713 GARD:9781 MESH:C537723 NCI:C126747 OMIM:300260 ORDO:85281 SNOMEDCT_US_2023_03_01:702816000 UMLS_CUI:C1846058 Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections disease_ontology DOID:0060799 syndromic X-linked intellectual disability Lubs type A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15689435 url:https://www.ncbi.nlm.nih.gov/pubmed/20425814 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. MESH:C535773 NCI:C124839 OMIM:304340 ORDO:1568 ORDO:85335 SNOMEDCT_US_2023_03_01:719139003 UMLS_CUI:C0796254 Fried syndrome MRX59 MRXS21 Mental retardation, X-linked syndromic 5 Pettigrew syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked mental retardation 59 X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures syndromic X-linked mental retardation 21 syndromic X-linked mental retardation Fried type disease_ontology DOID:0060800 syndromic X-linked intellectual disability 5 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/19377476 url:https://www.ncbi.nlm.nih.gov/pubmed/23756445 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. GARD:4483 MESH:C537302 NCI:C111814 OMIM:607624 ORDO:79477 UMLS_CUI:C1868679 GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome disease_ontology DOID:0060833 Griscelli syndrome type 2 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/707528 A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. GARD:7224 MESH:C537849 NCI:C118634 OMIM:310600 ORDO:649 SNOMEDCT_US_2023_03_01:15228007 UMLS_CUI:C0266526 Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria disease_ontology DOID:0060844 Norrie disease A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1303235 url:https://www.ncbi.nlm.nih.gov/pubmed/13998843 url:https://www.ncbi.nlm.nih.gov/pubmed/7627181 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. GARD:3224 MESH:C537119 NCI:C126560 OMIM:127300 ORDO:240 SNOMEDCT_US_2023_03_01:17818006 UMLS_CUI:C0265309 disease_ontology DOID:0060847 Leri-Weill dyschondrosteosis An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. url:https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ url:https://www.ncbi.nlm.nih.gov/pubmed/10713888 url:https://www.ncbi.nlm.nih.gov/pubmed/21712857 url:https://www.ncbi.nlm.nih.gov/pubmed/9590292 A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. GARD:4160 MESH:C536063 NCI:C130998 OMIM:259770 ORDO:2788 SNOMEDCT_US_2023_03_01:254112001 UMLS_CUI:C0432252 OPPG ocular form of osteogenesis imperfecta disease_ontology DOID:0060849 osteoporosis-pseudoglioma syndrome A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11719191 url:https://www.ncbi.nlm.nih.gov/pubmed/20034086 url:https://www.ncbi.nlm.nih.gov/pubmed/3955877 A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. GARD:705 ICD10CM:Q45.1 MESH:C536376 NCI:C98813 OMIM:167750 ORDO:675 SNOMEDCT_US_2023_03_01:40315008 UMLS_CUI:C0149955 disease_ontology DOID:0060850 annular pancreas A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. url:https://www.ncbi.nlm.nih.gov/pubmed/1860255 url:https://www.ncbi.nlm.nih.gov/pubmed/677171 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. GARD:7355 ICD10CM:L10.0 MESH:D010392 NCI:C34910 OMIM:169610 ORDO:704 SNOMEDCT_US_2023_03_01:49420001 UMLS_CUI:C0030809 familial pemphigus vulgaris disease_ontology DOID:0060851 pemphigus vulgaris A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. url:https://www.ncbi.nlm.nih.gov/pubmed/2217197 url:https://www.ncbi.nlm.nih.gov/pubmed/4577497 A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. GARD:9420 MESH:C537185 NCI:C128145 OMIM:609049 ORDO:2670 SNOMEDCT_US_2023_03_01:723449004 UMLS_CUI:C1836876 microcoria-congenital nephrosis syndrome disease_ontology DOID:0060852 Pierson syndrome A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/15367484 url:https://www.ncbi.nlm.nih.gov/pubmed/15372515 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. GARD:10145 MESH:C538355 NCI:C124846 OMIM:610883 ORDO:1713 SNOMEDCT_US_2023_03_01:734016004 UMLS_CUI:C2931246 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2 disease_ontology DOID:0060853 Potocki-Lupski syndrome A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10615134 url:https://www.ncbi.nlm.nih.gov/pubmed/20425816 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. GARD:4552 MESH:D011546 NCI:C123251 OMIM:264350 ORDO:171876 ORDO:756 SNOMEDCT_US_2023_03_01:43941006 UMLS_CUI:C0268436 PHA1B autosomal recessive PHA 1 disease_ontology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. url:https://www.ncbi.nlm.nih.gov/pubmed/10202170 url:https://www.ncbi.nlm.nih.gov/pubmed/10404817 url:https://www.ncbi.nlm.nih.gov/pubmed/8589714 A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. GARD:7627 MESH:D025962 NCI:C85063 OMIM:182230 ORDO:3157 SNOMEDCT_US_2023_03_01:204073006 UMLS_CUI:C0338503 De Morsier syndrome SOD septo-optic dysplasia disease_ontology DOID:0060857 septooptic dysplasia A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8696006 url:https://www.ncbi.nlm.nih.gov/pubmed/9620767 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. GARD:12556 ICD10CM:E23.0 ICD9CM:253.3 MESH:D004393 NCI:C34555 ORDO:631 SNOMEDCT_US_2023_03_01:270485009 UMLS_CUI:C0013338 IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency disease_ontology DOID:0060870 isolated growth hormone deficiency A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. GARD:2966 MESH:D053560 NCI:C84777 OMIM:146800 ORDO:455 SNOMEDCT_US_2023_03_01:254169002 UMLS_CUI:C0432306 bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis disease_ontology DOID:0060877 bullous congenital ichthyosiform erythroderma An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/4247927 url:https://www.ncbi.nlm.nih.gov/pubmed/7524919 A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. MESH:C537907 NCI:C130983 OMIM:146255 ORDO:2237 SNOMEDCT_US_2023_03_01:724282009 UMLS_CUI:C1840333 Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease disease_ontology DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. url:https://www.ncbi.nlm.nih.gov/pubmed/10935639 url:https://www.ncbi.nlm.nih.gov/pubmed/874665 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. DOID:0050747 GARD:7872 ICD10CM:C88.0 ICD9CM:273.3 ICDO:9671/3 MESH:D008258 NCI:C115212 NCI:C80307 OMIM:153600 OMIM:610430 ORDO:33226 SNOMEDCT_US_2023_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy disease_ontology DOID:0060901 Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia. lymphoplasmacytic lymphoma MESH:D008258 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. url:https://www.ncbi.nlm.nih.gov/pubmed/10632755 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. NCI:C133742 OMIM:614255 UMLS_CUI:C3280283 MRD9 NESCAVS autosomal dominant intellectual disability 9 autosomal dominant mental retardation 9 autosomal dominant non-syndromic intellectual disability 9 neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment disease_ontology DOID:0070039 NESCAV syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. GARD:12328 MESH:D000699 MESH:D009477 NCI:C156360 OMIM:608654 ORDO:608654 SNOMEDCT_US_2023_03_01:128206006 SNOMEDCT_US_2023_03_01:403605007 UMLS_CUI:C0002768 UMLS_CUI:C0020075 HSAN5 hereditary sensory and autonomic neuropathy type V disease_ontology DOID:0070145 hereditary sensory and autonomic neuropathy type 5 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14976160 url:https://www.ncbi.nlm.nih.gov/pubmed/77656 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. GARD:3006 MESH:D009477 NCI:C118633 OMIM:256800 ORDO:642 SNOMEDCT_US_2023_03_01:62985007 UMLS_CUI:C0020074 hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis disease_ontology DOID:0070146 hereditary sensory neuropathy type 4 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14272277 url:https://www.ncbi.nlm.nih.gov/pubmed/8696348 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. GARD:6635 MESH:D009477 NCI:C170433 ORDO:36386 SNOMEDCT_US_2023_03_01:52647008 UMLS_CUI:C0020071 HSAN1 hereditary sensory and autonomic neuropathy type I disease_ontology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/18348718 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. MESH:D000072660 NCI:C158500 OMIM:102530 SPGF6 disease_ontology DOID:0070167 spermatogenic failure 6 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17847006 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. GARD:3126 MESH:D052496 NCI:C165527 OMIM:151660 ORDO:2348 SNOMEDCT_US_2023_03_01:715439000 UMLS_CUI:C1720860 FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy disease_ontology DOID:0070202 familial partial lipodystrophy type 2 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10587585 url:https://www.ncbi.nlm.nih.gov/pubmed/170190 A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. GARD:7220 ICD10CM:Q82.0 MESH:D008209 NCI:C48829 ORDO:79452 SNOMEDCT_US_2023_03_01:268355000 UMLS_CUI:C1704423 LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I disease_ontology DOID:0070212 hereditary lymphedema I A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/9817924 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. GARD:9932 MESH:C538376 NCI:C131839 OMIM:610021 ORDO:165991 SNOMEDCT_US_2023_03_01:715830008 UMLS_CUI:C1864902 EIHI HHF7 exercise-induced hyperinsulinemic hypoglycemia exercise-induced hyperinsulinism hyperinsulinism due to SLC16A1 deficiency hyperinsulinism due to monocarboxylate transporter 1 deficiency disease_ontology DOID:0070214 familial hyperinsulinemic hypoglycemia 7 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17701893 An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. NCI:C84453 OMIM:PS211600 ORDO:172 SNOMEDCT_US_2023_03_01:74162007 UMLS_CUI:C0268312 PFIC; Byler disease disease_ontology DOID:0070221 progressive familial intrahepatic cholestasis An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/15239083 url:https://www.ncbi.nlm.nih.gov/pubmed/8014759 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. GARD:12185 NCI:C84402 OMIM:PS243300 ORDO:65682 SNOMEDCT_US_2021_09_01:31155007 BRIC Summerskill-Walshe-Tygstrup syndrome disease_ontology DOID:0070230 benign recurrent intrahepatic cholestasis An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. url:https://www.ncbi.nlm.nih.gov/pubmed/23402083 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. GARD:4634 MESH:C535755 NCI:C4690 OMIM:266265 ORDO:99843 SNOMEDCT_US_2023_03_01:234583001 UMLS_CUI:C0398739 CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome disease_ontology DOID:0070255 congenital disorder of glycosylation type IIc A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10590041 A nutritional deficiency disease that is characterized by low levels of thiamine. NCI:C34418 SNOMEDCT_US_2021_09_01:399357009 disease_ontology DOID:0070313 thiamine deficiency disease A nutritional deficiency disease that is characterized by low levels of thiamine. url:https://en.wikipedia.org/wiki/Thiamine_deficiency A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. apujar NCI:C120902 SNOMEDCT_US_2023_03_01:86249007 UMLS_CUI:C0149939 CON congenital obstructive nephropathy disease_ontology DOID:0070314 obstructive nephropathy A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. url:https://en.wikipedia.org/wiki/Obstructive_uropathy url:https://www.ncbi.nlm.nih.gov/pubmed/24023768 url:https://www.ncbi.nlm.nih.gov/pubmed/25402279 url:https://www.ncbi.nlm.nih.gov/pubmed/26667236 A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. apujar GARD:2922 ICD10CM:Q22.6 NCI:C99053 SNOMEDCT_US_2023_03_01:204348000 UMLS_CUI:C0344963 Right hypoplastic heart syndrome disease_ontology DOID:0070315 hypoplastic right heart syndrome A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. url:https://www.ncbi.nlm.nih.gov/pubmed/24932961 url:https://www.ncbi.nlm.nih.gov/pubmed/28009100 A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. GARD:9331 NCI:C7955 ORDO:33402 pediatric hepatocellular carcinoma disease_ontology DOID:0070322 childhood hepatocellular carcinoma A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/17714939 url:https://www.ncbi.nlm.nih.gov/pubmed/28144610 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A childhood 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. ICDO:9861/3 NCI:C9160 childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia disease_ontology DOID:0070323 childhood acute myeloid leukemia A childhood 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://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx url:https://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. GARD:9368 NCI:C118822 malignant pediatric adrenal gland pheochromocytoma disease_ontology DOID:0070325 malignant childhood adrenal gland pheochromocytoma An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. url:https://www.ncbi.nlm.nih.gov/pubmed/28324046 url:https://www.ncbi.nlm.nih.gov/pubmed/28752085 A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. NCI:C136825 atypical spitz nevus disease_ontology DOID:0070326 spitzoid melanoma A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ url:https://www.ncbi.nlm.nih.gov/pubmed/25666674 url:https://www.ncbi.nlm.nih.gov/pubmed/25834363 A skin melanoma that arises from a congenital melanocytic nevus. GARD:2469 ICDO:8761/3 NCI:C48613 UMLS_CUI:C1711221 Malignant melanoma in congenital melanocytic nevus melanocytic nevi disease_ontology DOID:0070327 melanoma in congenital melanocytic nevus A skin melanoma that arises from a congenital melanocytic nevus. url:https://www.ncbi.nlm.nih.gov/pubmed/27517357 url:https://www.ncbi.nlm.nih.gov/pubmed/28078671 A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. NCI:C7956 ORDO:210159 SNOMEDCT_US_2023_03_01:1197204009 UMLS_CUI:C0279607 adult hepatoma adult primary hepatocellular carcinoma disease_ontology DOID:0070328 adult hepatocellular carcinoma A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. url:https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq url:https://www.ncbi.nlm.nih.gov/pubmed/25979220 url:https://www.ncbi.nlm.nih.gov/pubmed/28761617 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. GARD:9179 MESH:C537835 NCI:C168999 OMIM:136550 ORDO:75327 SNOMEDCT_US_2023_03_01:312925009 UMLS_CUI:C0730294 MCDR1 NCMD central areolar pigment epithelial dystrophy central retinal pigment epithelial dystrophy progressive foveal dystrophy retinal macular dystrophy 1 disease_ontology DOID:0070439 North Carolina macular dystrophy GARD:9179 MESH:C537835 OMIM:136550 ORDO:75327 UMLS_CUI:C0730294 A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. url:https://pubmed.ncbi.nlm.nih.gov/36243009 A renal cell carcinoma that develops in the renal medulla. GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C4049328 RMC kidney medullary carcinoma medullary carcinoma of the kidney medullary renal cell carcinoma renal medullary carcinoma disease_ontology DOID:0070475 SMARCB1-deficient renal medullary carcinoma GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C4049328 A renal cell carcinoma that develops in the renal medulla. url:https://pubmed.ncbi.nlm.nih.gov/28697319/ url:https://pubmed.ncbi.nlm.nih.gov/35853783/ url:https://pubmed.ncbi.nlm.nih.gov/36645398/ A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. neurofibromatosis 3 NCI:C186703 OMIM:162091 UMLS_CUI:C5670707 SMARCB1-related schwannomatosis SWN1 disease_ontology DOID:0070480 schwannomatosis 1 NCI:C186703 OMIM:162091 UMLS_CUI:C5670707 A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. url:https://pubmed.ncbi.nlm.nih.gov/19582488/ url:https://pubmed.ncbi.nlm.nih.gov/35674741/ A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. neurofibromatosis 3 NCI:C186704 OMIM:615670 UMLS_CUI:C5670708 LZTR1-related schwannomatosis SWN2 disease_ontology DOID:0070481 schwannomatosis 2 NCI:C186704 OMIM:615670 UMLS_CUI:C5670708 A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. url:https://pubmed.ncbi.nlm.nih.gov/24362817/ url:https://pubmed.ncbi.nlm.nih.gov/35674741/ A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. GARD:10714 MESH:C548032 NCI:C176941 OMIM:611431 ORDO:137605 SNOMEDCT_US_2023_03_01:703541007 UMLS_CUI:C1969623 LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome disease_ontology DOID:0070484 Legius syndrome GARD:10714 MESH:C548032 NCI:C176941 OMIM:611431 ORDO:137605 SNOMEDCT_US_2023_03_01:703541007 UMLS_CUI:C1969623 A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. url:https://pubmed.ncbi.nlm.nih.gov/34012067/ A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. GARD:10484 MESH:C567730 NCI:C129866 OMIM:613135 ORDO:238455 SNOMEDCT_US_2023_03_01:722763000 UMLS_CUI:C2751067 PKDYS1 classic DTDS infantile parkinsonism-dystonia 1 disease_ontology DOID:0070489 classic dopamine transporter deficiency syndrome OMIM:PS613135 GARD:10484 MESH:C567730 NCI:C129866 OMIM:613135 ORDO:238455 SNOMEDCT_US_2023_03_01:722763000 UMLS_CUI:C2751067 A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. url:https://pubmed.ncbi.nlm.nih.gov/37443770/ url:https://www.ncbi.nlm.nih.gov/books/NBK442323/ A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. NCI:C176895 OMIM:220110 UMLS_CUI:C5435656 MC4DN1 disease_ontology DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 NCI:C176895 OMIM:220110 UMLS_CUI:C5435656 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. url:https://pubmed.ncbi.nlm.nih.gov/10746561/ An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. GARD:117 MESH:C536632 NCI:C129308 OMIM:269150 ORDO:798 SNOMEDCT_US_2023_03_01:18899000 UMLS_CUI:C0265227 SGS Schinzel-Giedion midface retraction syndrome disease_ontology DOID:0070509 Schinzel Giedion syndrome GARD:117 MESH:C536632 NCI:C129308 OMIM:269150 ORDO:798 SNOMEDCT_US_2023_03_01:18899000 UMLS_CUI:C0265227 An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. url:https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/20436468/ A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. GARD:7673 ICD10CM:Q05 ICD9CM:741 MESH:D016135 NCI:C101214 SNOMEDCT_US_2023_03_01:156888006 UMLS_CUI:C0080178 disease_ontology DOID:0080016 spina bifida MESH:D016135 NCI:C101214 A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. url:https://en.wikipedia.org/wiki/Spina_bifida url:https://ghr.nlm.nih.gov/condition/spina-bifida An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. GARD:6724 ICD10CM:Q77.4 MESH:C562937 NCI:C118697 OMIM:146000 ORDO:429 SNOMEDCT_US_2023_03_01:205468002 UMLS_CUI:C0410529 disease_ontology DOID:0080041 hypochondroplasia 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.ncbi.nlm.nih.gov/books/NBK1477/ A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. lschriml 2015-10-19T14:28:30Z DOID:3878 GARD:12744 GARD:6789 MESH:D007418 NCI:C34733 ORDO:2978 SNOMEDCT_US_2023_03_01:235825006 UMLS_CUI:C0021847 Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia disease_ontology DOID:0080072 intestinal pseudo-obstruction A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. url:https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction url:https://pubmed.ncbi.nlm.nih.gov/31848803/ A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. GARD:9920 MESH:C536350 NCI:C11967 OMIM:603041 ORDO:298 mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related disease_ontology DOID:0080119 mitochondrial DNA depletion syndrome 1 A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome url:https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease url:https://www.ncbi.nlm.nih.gov/pubmed/19056268 url:https://www.ncbi.nlm.nih.gov/pubmed/20301358 url:https://www.omim.org/entry/603041 A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. DOID:1442 GARD:5783 ICD10CM:G31.81 MESH:D002549 NCI:C35257 OMIM:203700 ORDO:726 SNOMEDCT_US_2023_03_01:20415001 UMLS_CUI:C0205710 Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy disease_ontology DOID:0080122 Alpers-Huttenlocher syndrome MESH:D002549 A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/30103161 url:https://www.ncbi.nlm.nih.gov/pubmed/30451971 url:https://www.omim.org/entry/203700 A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. NCI:C129977 OMIM:617184 disease_ontology DOID:0080130 mitochondrial DNA depletion syndrome 12a A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. url:https://www.ncbi.nlm.nih.gov/pubmed/27693233 url:https://www.omim.org/entry/617184 An acute lymphocytic leukemia occuring during childhood. NCI:C3168 Childhood Acute Lymphoblastic Leukemia disease_ontology DOID:0080144 childhood acute lymphocytic leukemia An acute lymphocytic leukemia occuring during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. DOID:7933 NCI:C5640 UMLS_CUI:C1332997 T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia disease_ontology DOID:0080145 childhood T-cell acute lymphoblastic leukemia A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. NCI:C9140 disease_ontology DOID:0080146 childhood B-cell acute lymphoblastic leukemia A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. NCI:C7210 Childhood T lymphoblastic lymphoma disease_ontology DOID:0080148 T-cell childhood lymphoblastic lymphoma A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf An acute monocytic leukemia occurring in adults. NCI:C8263 disease_ontology DOID:0080149 adult acute monocytic leukemia An acute monocytic leukemia occurring in adults. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. NCI:C84270 UMLS_CUI:C2827356 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms disease_ontology DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 url:https://www.ncbi.nlm.nih.gov/pubmed/23489324 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. NCI:C84275 Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement disease_ontology DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. NCI:C84276 Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement disease_ontology DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. NCI:C84277 disease_ontology DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. ICDO:9963/3 NCI:C3179 disease_ontology DOID:0080187 chronic neutrophilic leukemia A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. url:https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. GARD:8225 ICDO:9945/3 NCI:C3178 disease_ontology DOID:0080188 chronic myelomonocytic leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. url:https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia url:https://www.ncbi.nlm.nih.gov/pubmed/30367269 url:https://www.ncbi.nlm.nih.gov/pubmed/31093889 A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. NCI:C3800 disease_ontology DOID:0080190 malignant epithelioid hemangioendothelioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. EFO:1001951 MESH:D015179 NCI:C2955 UMLS_CUI:C0009402 disease_ontology DOID:0080199 colorectal carcinoma A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. GARD:5743 ICDO:8200/3 MESH:D003528 NCI:C2970 disease_ontology DOID:0080202 adenoid cystic carcinoma An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. url:http://codes.iarc.fr/code/2592 url:https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:https://meshb.nlm.nih.gov/record/ui?ui=D003528 A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. NCI:C8863 disease_ontology DOID:0080211 nodal marginal zone lymphoma A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 url:https://www.ncbi.nlm.nih.gov/pubmed/26989202 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. MESH:D024741 NCI:C84773 OMIM:PS192600 ORDO:217569 SNOMEDCT_US_2023_03_01:83978005 UMLS_CUI:C0949658 disease_ontology DOID:0080326 familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. url:https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. GARD:1142 NCI:C129977 OMIM:615418 ORDO:1369 disease_ontology DOID:0080335 mitochondrial DNA depletion syndrome 12b A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. url:https://ghr.nlm.nih.gov/gene/SLC25A4#conditions url:https://www.ncbi.nlm.nih.gov/pubmed/22187496 url:https://www.ncbi.nlm.nih.gov/pubmed/27693233 url:https://www.omim.org/entry/615418 A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. ICDO:9964/3 NCI:C4563 disease_ontology DOID:0080367 chronic eosinophilic leukemia A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. url:https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. NCI:C4862 disease_ontology DOID:0080369 ovarian sex-cord stromal tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit A sex cord-stromal benign neoplasm that arises from the ovary. NCI:C6803 disease_ontology DOID:0080370 ovarian sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the ovary. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. GARD:1500 MEDDRA:10060740 NCI:C122795 OMIM:256300 ORDO:839 SNOMEDCT_US_2023_03_01:197601003 UMLS_CUI:C0403399 Finnish congenital nephrosis disease_ontology DOID:0080390 nephrotic syndrome type 1 A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10577936 url:https://www.ncbi.nlm.nih.gov/pubmed/9660941 A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. NCI:C135017 non- squamous NSCLC disease_ontology DOID:0080521 lung non-squamous non-small cell carcinoma A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/30362335 A thyroid gland carcinoma that is composed of undifferentiated cells. NCI:C3878 anaplastic thyroid carcinoma disease_ontology DOID:0080522 thyroid gland anaplastic carcinoma A thyroid gland carcinoma that is composed of undifferentiated cells. url:https://www.ncbi.nlm.nih.gov/pubmed/28707679 A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C27380 disease_ontology DOID:0080524 thyroid gland adenocarcinoma A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. NCI:C7153 disease_ontology DOID:0080525 differentiated thyroid gland carcinoma A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. ICDO:8858/3 NCI:C3704 ORDO:99970 disease_ontology DOID:0080531 dedifferentiated liposarcoma A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ url:https://www.ncbi.nlm.nih.gov/pubmed/26645460 A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. ICDO:8811/3 NCI:C6496 ORDO:79105 fibromyxoid sarcoma disease_ontology DOID:0080534 myxofibrosarcoma A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. url:https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 url:https://www.ncbi.nlm.nih.gov/pubmed/27591498 A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. ICD10CM:D80.5 MESH:D053306 NCI:C3990 OMIM:PS308230 UMLS_CUI:C0272236 HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM disease_ontology DOID:0080544 hyper IgM syndrome ICD10CM:D80.5 MESH:D053306 NCI:C3990 OMIM:PS308230 UMLS_CUI:C0272236 A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. url:https://rarediseases.org/rare-diseases/hyper-igm-syndrome/ url:https://www.niaid.nih.gov/diseases-conditions/types-pidds A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. ICD10CM:U07.1 MESH:D000086382 NCI:C171133 SNOMEDCT_US_2023_03_01:840539006 UMLS_CUI:C5203670 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection disease_ontology DOID:0080600 COVID-19 A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. url:https://www.cdc.gov/coronavirus/2019-ncov/about/index.html url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145 url:https://www.who.int/emergencies/diseases/novel-coronavirus-2019 A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. ICDO:9080/1 NCI:C67107 disease_ontology DOID:0080602 benign teratoma A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit An immune system organ benign neoplasm that is located_in the lymph nodes. NCI:C3636 SNOMEDCT_US_2021_09_01:92197001 disease_ontology DOID:0080617 lymph node benign neoplasm An immune system organ benign neoplasm that is located_in the lymph nodes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null A sensory system benign neoplasm that is located in the auditory system. NCI:C8417 disease_ontology DOID:0080619 auditory system benign neoplasm A sensory system benign neoplasm that is located in the auditory system. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. DOID:7061 ICDO:9836/3 NCI:C8936 SNOMEDCT_US_2023_03_01:1162660006 UMLS_CUI:C0862030 B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia disease_ontology DOID:0080630 B-lymphoblastic leukemia/lymphoma A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. NCI:C8644 B acute lymphoblastic leukemia B-cell acute lymphocytic leukemia disease_ontology DOID:0080638 B-cell acute lymphoblastic leukemia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia A biliary tract benign neoplasm that is located_in the gallbladder. NCI:C4440 disease_ontology DOID:0080640 gallbladder benign neoplasm A biliary tract benign neoplasm that is located_in the gallbladder. url:https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. ICDO:9812/3 NCI:C80331 B-ALL with BCR-ABL1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1 disease_ontology DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. ICDO:9813/3 NCI:C80342 B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged B-ALL KMT2A rearranged B-lymphoblastic leukemia/lymphoma KMT2A rearranged B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged disease_ontology DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. ICDO:9814/3 NCI:C80343 B-ALL with ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 disease_ontology DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. ICDO:9815/3 NCI:C80335 B-ALL with hyperdiploidy disease_ontology DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. ICDO:9816/3 NCI:C80338 B-ALL with hypodiploidy disease_ontology DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). ICDO:9817/3 NCI:C80346 B-ALL with IL3-IGH B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH disease_ontology DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. ICDO:9818/3 NCI:C80347 B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-ALL with TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1 disease_ontology DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. NCI:C130039 B-ALL with iAMP21 Intrachromosomal amplification of chromosome 21 (iAMP21) disease_ontology DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 An urolithiasis in which the composition of the stones is predominantly urate. NCI:C123245 OMIM:191700 disease_ontology DOID:0080654 uric acid urolithiasis An urolithiasis in which the composition of the stones is predominantly urate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/ url:https://www.ncbi.nlm.nih.gov/pubmed/14036165 A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. NCI:C120199 ORDO:1772 disease_ontology DOID:0080656 45,X/46,XY mixed gonadal dysgenesis A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. url:https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. GARD:10072 MESH:C536169 NCI:C122660 OMIM:112250 ORDO:85182 Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome disease_ontology DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. url:https://pubmed.ncbi.nlm.nih.gov/8781110 url:https://www.ncbi.nlm.nih.gov/pubmed/22464254 A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. NCI:C53555 UMLS_CUI:C3642346 Luminal B Breast Carcinoma disease_ontology DOID:0080674 luminal breast carcinoma B A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. ICDO:9385/3 NCI:C129309 diffuse intrinsic pontine glioma disease_ontology DOID:0080684 diffuse midline glioma, H3 K27M-mutant A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. url:https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf url:https://pubmed.ncbi.nlm.nih.gov/31290035/ url:https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. GARD:65 MESH:C537548 NCI:C132195 OMIM:PS251300 ORDO:2065 SNOMEDCT_US_2023_03_01:721297008 UMLS_CUI:C0795949 disease_ontology DOID:0080694 Galloway-Mowat syndrome A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome url:https://pubmed.ncbi.nlm.nih.gov/20083416/ url:https://www.ncbi.nlm.nih.gov/pubmed/26123727 A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. ICDO:9475/3 NCI:C129440 disease_ontology DOID:0080702 medulloblastoma WNT activated A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. NCI:C129441 disease_ontology DOID:0080703 medulloblastoma SHH activated A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. url:https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. ICDO:9476/3 NCI:C129442 disease_ontology DOID:0080704 medulloblastoma SHH activated and TP53 mutant A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. url:https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. ICDO:9471/3 NCI:C129443 Medulloblastoma SHH-Activated TP53-Wildtype disease_ontology DOID:0080705 medulloblastoma SHH activated and TP53 wild-type A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. ICDO:9477/3 NCI:C129444 disease_ontology DOID:0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. url:https://pubmed.ncbi.nlm.nih.gov/30392813/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. NCI:C129445 disease_ontology DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ url:https://pubmed.ncbi.nlm.nih.gov/30876441/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. NCI:C129446 disease_ontology DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. GARD:9493 MESH:C536816 MESH:C538329 NCI:C176900 OMIM:605820 ORDO:602 SNOMEDCT_US_2023_03_01:702382000 UMLS_CUI:C1833373 UMLS_CUI:C1853926 Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2 disease_ontology Distal Myopathy with Rimmed Vacuoles DOID:0080718 distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused for another disease, OMIM:617158 (SQSTM1 gene) [LS]. GNE myopathy MESH:C536816 A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. url:https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 url:https://pubmed.ncbi.nlm.nih.gov/29720219/ url:https://pubmed.ncbi.nlm.nih.gov/30338442/ url:https://rarediseases.org/rare-diseases/gne-myopathy/ url:https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. NCI:C129699 OMIM:187550 ORDO:231214 Cooley's anemia disease_ontology DOID:0080771 beta-thalassemia major A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. url:https://ghr.nlm.nih.gov/condition/beta-thalassemia url:https://pubmed.ncbi.nlm.nih.gov/12480689/ url:https://www.ncbi.nlm.nih.gov/pubmed/19258591 A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. NCI:C172823 ORDO:231237 disease_ontology DOID:0080773 delta beta-thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. url:https://pubmed.ncbi.nlm.nih.gov/30706898/ url:https://pubmed.ncbi.nlm.nih.gov/31444804/ An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. ICD10CM:E34.51 MESH:D013734 NCI:C120191 ORDO:99429 SNOMEDCT_US_2023_03_01:267486007 UMLS_CUI:C0936016 disease_ontology DOID:0080775 complete androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. NCI:C45540 Sarcomatoid carcinoma of the lung pulmonary sarcomatoid carcinoma disease_ontology DOID:0080777 lung sarcomatoid carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 url:https://pubmed.ncbi.nlm.nih.gov/28081478/ A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. ICDO:9735/3 MESH:D000069293 NCI:C7224 disease_ontology DOID:0080779 plasmablastic lymphoma A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ An acute myeloid leukemia that is characterized by a predominant immature erythroid population. ICDO:9840/3 NCI:C8923 disease_ontology DOID:0080780 acute erythroid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. url:https://en.wikipedia.org/wiki/Acute_erythroid_leukemia An endocrine organ benign neoplasm arising from the exocrine pancreas. NCI:C4613 disease_ontology DOID:0080781 benign exocrine pancreas neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. NCI:C7972 pediatric non-Down syndrome acute megakaryoblastic leukemia disease_ontology DOID:0080794 childhood acute megakaryoblastic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. url:https://pubmed.ncbi.nlm.nih.gov/28867167/ url:https://www.nature.com/articles/ng.3772 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ An acute myeloid leukemia that is characterized by primary differentiation to basophils. ICDO:9870/3 NCI:C3164 disease_ontology DOID:0080795 acute basophilic leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. url:http://www.pathologyoutlines.com/topic/leukemiabasophil.html url:https://en.wikipedia.org/wiki/Acute_basophilic_leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. NCI:C122688 disease_ontology DOID:0080796 core binding factor acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. url:https://pubmed.ncbi.nlm.nih.gov/26980726/ A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. ICDO:9719/3 NCI:C4684 disease_ontology DOID:0080797 nasal type extranodal NK/T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. url:https://pubmed.ncbi.nlm.nih.gov/29602763/ An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. ICDO:9898/3 NCI:C43223 disease_ontology DOID:0080798 myeloid leukemia associated with Down Syndrome An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. url:https://pubmed.ncbi.nlm.nih.gov/26910243/ url:https://pubmed.ncbi.nlm.nih.gov/31606922/ A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. MESH:C537344 NCI:C54294 disease_ontology DOID:0080799 sinonasal undifferentiated carcinoma A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. url:https://pubmed.ncbi.nlm.nih.gov/30806835/ A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. NCI:C62193 disease_ontology DOID:0080800 salivary gland mucinous adenocarcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. url:https://pubmed.ncbi.nlm.nih.gov/26908552/ A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). DOID:0060101 NCI:C132067 benign glioma disease_ontology DOID:0080829 low grade glioma A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). url:http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ A meningioma that arises within the cranial cavity. MESH:D008579 NCI:C4656 SNOMEDCT_US_2023_03_01:302820008 UMLS_CUI:C0349604 disease_ontology DOID:0080842 intracranial meningioma A meningioma that arises within the cranial cavity. url:https://pubmed.ncbi.nlm.nih.gov/17961033/ A meningioma that affects the supratentorial brain. NCI:C6971 UMLS_CUI:C1334698 disease_ontology DOID:0080843 supratentorial meningioma A meningioma that affects the supratentorial brain. url:https://pubmed.ncbi.nlm.nih.gov/26636386/ A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. NCI:C129327 disease_ontology DOID:0080854 anaplastic pleomorphic xanthoastrocytoma A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. url:https://www.hindawi.com/journals/crinm/2018/6428492/ An anaplastic astrocytoma carrying IDH mutations. NCI:C185167 disease_ontology DOID:0080875 IDH-mutant anaplastic astrocytoma An anaplastic astrocytoma carrying IDH mutations. url:https://www.pathologyoutlines.com/topic/anaastroidhmutant.html An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. ICDO:9401/3 NCI:C129291 disease_ontology DOID:0080876 IDH-wildtype anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. url:https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. ICDO:9445/3 NCI:C167335 disease_ontology DOID:0080877 The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant. astrocytoma, IDH-mutant, grade 4 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. url:https://pubmed.ncbi.nlm.nih.gov/33692446/ A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. ICDO:9440/3 NCI:C39750 disease_ontology DOID:0080878 IDH-wildtype glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. url:https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. ICDO:9385/3 NCI:C185371 disease_ontology DOID:0080880 diffuse glioma, H3 G34 mutant A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. url:https://pubmed.ncbi.nlm.nih.gov/30358620/ An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). NCI:C129321 Oligodendroglioma, IDH-mutant and 1p/19q-codeleted anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted disease_ontology DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). url:https://www.nature.com/articles/s41598-020-68733-5 url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html A spinal cord ependymoma that is characterized by MYCN amplification. ICDO:9396/3 NCI:C186494 Spinal Cord Ependymoma, MYCN Amplified spinal ependymoma, MYCN disease_ontology DOID:0080888 spinal ependymoma, MYCN-amplified A spinal cord ependymoma that is characterized by MYCN amplification. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. ICDO:9396/3 NCI:C129351 ORDO:530792 C11orf95 fusion-positive supratentorial ependymoma Supratentorial C11ORF95-RELA fused ependymoma disease_ontology DOID:0080892 RELA fusion-positive ependymoma A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. url:https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html A hemangioma that is characterized by complete regression. NCI:C172207 ORDO:141184 disease_ontology DOID:0080895 rapidly involuting congenital hemangioma A hemangioma that is characterized by complete regression. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. NCI:C45542 disease_ontology DOID:0080899 lung pleomorphic carcinoma A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. url:https://pubmed.ncbi.nlm.nih.gov/31355240/ An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). DOID:4794 MESH:D018242 NCI:C4915 SNOMEDCT_US_2023_03_01:253070006 UMLS_CUI:C0700367 ependymoblastoma disease_ontology DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). url:https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. NCI:C4826 disease_ontology DOID:0080905 central nervous system neuroblastoma A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. url:https://pubmed.ncbi.nlm.nih.gov/29520437/ A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. MESH:D064129 NCI:C130234 disease_ontology DOID:0080909 castration-resistant prostate carcinoma MESH:D064129 A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. url:https://pubmed.ncbi.nlm.nih.gov/30324351/ A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. ICDO:9755/3 MESH:D054747 NCI:C27349 disease_ontology DOID:0080915 histiocytic sarcoma MESH:D054747 A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. NCI:C7152 disease_ontology DOID:0080916 erythroleukemia An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). MESH:D065706 NCI:C116936 disease_ontology DOID:0080918 polymicrogyria A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). url:https://pubmed.ncbi.nlm.nih.gov/10489031/ url:https://www.ncbi.nlm.nih.gov/books/NBK1329/ A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. GARD:10784 NCI:C148367 OMIM:606854 disease_ontology DOID:0080922 bilateral frontoparietal polymicrogyria A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. url:https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002 A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. GARD:12664 NCI:C131302 OMIM:613571 disease_ontology DOID:0080925 cytochrome P450 oxidoreductase deficiency A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. url:https://www.ncbi.nlm.nih.gov/books/NBK1419/ A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. NCI:C6772 disease_ontology DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. ICDO:9912/3 NCI:C129785 Acute myeleoid leukemia with BCR-ABL1 disease_ontology DOID:0080976 acute myeloid leukemia with BCR-ABL1 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. url:https://pubmed.ncbi.nlm.nih.gov/27297971/ A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. NCI:C36081 DLBCL ABC type disease_ontology DOID:0080996 diffuse large B-cell lymphoma activated B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. NCI:C36080 disease_ontology DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. NCI:C125904 HGBL-DH/TH High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements disease_ontology DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. url:https://pubmed.ncbi.nlm.nih.gov/29475959/ A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. NCI:C126357 disease_ontology DOID:0081026 benign peritoneal solitary fibrous tumor A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. url:https://www.medscimonit.com/abstract/index/idArt/459077/act/3 A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. ICDO:8315/3 NCI:C4153 SNOMEDCT_US_2023_03_01:189656007 UMLS_CUI:C0334319 disease_ontology DOID:0081028 glycogen-rich carcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. ICDO:9806/3 NCI:C82192 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 disease_ontology DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. ICDO:9807/3 NCI:C82203 Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged disease_ontology DOID:0081037 mixed phenotype acute leukemia with MLL rearranged An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. url:https://pubmed.ncbi.nlm.nih.gov/32350732/ An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. ICDO:9808/3 NCI:C82212 disease_ontology DOID:0081038 mixed phenotype acute leukemia, B/myeloid An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. url:https://pubmed.ncbi.nlm.nih.gov/29686566/ A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. GARD:8223 ICDO:9833/3 NCI:C4753 ORDO:86852 B Cell Prolymphocytic Leukemia Prolymphocytic leukemia, B-cell type disease_ontology DOID:0081041 B-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. url:https://pubmed.ncbi.nlm.nih.gov/34293709/ A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. ICDO:9834/3 NCI:C4752 ORDO:86871 Prolymphocytic leukemia, T-cell type T Cell Prolymphocytic Leukemia disease_ontology DOID:0081042 T-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. url:https://pubmed.ncbi.nlm.nih.gov/31082044/ A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. NCI:C8459 ORDO:86882 disease_ontology DOID:0081049 hepatosplenic T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. NCI:C45340 Primary Cutaneous Gamma-Delta T Cell Lymphomas cutaneous gamma/delta T-cell lymphoma disease_ontology DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. NCI:C148395 BN2 DLBCL disease_ontology DOID:0081064 BN2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. NCI:C148398 EZB DLBCL disease_ontology DOID:0081065 EZB diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. NCI:C148394 MCD DLBCL disease_ontology DOID:0081066 MCD diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. NCI:C148396 N1 DLBCL disease_ontology DOID:0081067 N1 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. NCI:C7203 Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor Agranular CD4+ Natural Killer Cell Leukemia Blastic NK-Cell Lymphoma Blastic Natural Killer Leukemia/Lymphoma CD4+/CD56+ Hematodermic Neoplasm natural killer (NK) cell leukemia/lymphoma disease_ontology DOID:0081076 blastic plasmacytoid dendritic cell neoplasm An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. url:https://pubmed.ncbi.nlm.nih.gov/30350260/ url:https://pubmed.ncbi.nlm.nih.gov/31972688/ url:https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. ICDO:9865/3 NCI:C82423 SNOMEDCT_US_2023_03_01:450928003 UMLS_CUI:C2826169 Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214 DEK-NUP214 acute myeloid leukemia with t(6;9)(p23;q34) disease_ontology DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. url:https://pubmed.ncbi.nlm.nih.gov/32526729/ An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. ICDO:9866/3 NCI:C3182 acute promyelocytic leukemia, t(15;17)(q22;q11-12) disease_ontology DOID:0081081 acute promyelocytic leukemia with PML-RARA An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. url:https://pubmed.ncbi.nlm.nih.gov/24720386/ An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. ICD10CM:C92.5 ICDO:9867/3 MESH:D015479 NCI:C7463 SNOMEDCT_US_2023_03_01:30962008 UMLS_CUI:C0023479 disease_ontology DOID:0081082 acute myelomonocytic leukemia An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. url:https://pubmed.ncbi.nlm.nih.gov/31915926/ An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. ICDO:9869/3 NCI:C82426 SNOMEDCT_US_2023_03_01:780844005 UMLS_CUI:C2826172 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 disease_ontology DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. url:https://pubmed.ncbi.nlm.nih.gov/31711889/ An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. ICD10CM:C92.0 ICDO:9872/3 NCI:C8460 SNOMEDCT_US_2023_03_01:103689001 UMLS_CUI:C0522631 AML-M0 Acute myeloid leukemia, minimal differentiation disease_ontology DOID:0081085 acute myeloid leukemia with minimal differentiation An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. url:https://pubmed.ncbi.nlm.nih.gov/12110349/ An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. GARD:526 ICD10CM:C92.0 ICDO:9873/3 MESH:D015470 NCI:C3249 ORDO:98833 SNOMEDCT_US_2023_03_01:103690005 UMLS_CUI:C0026998 disease_ontology DOID:0081086 acute myeloid leukemia without maturation An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. url:https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1 An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. ICD10CM:C92.0 ICDO:9874/3 MESH:D015470 NCI:C3250 SNOMEDCT_US_2023_03_01:103691009 UMLS_CUI:C1879321 disease_ontology DOID:0081087 acute myeloid leukemia with maturation An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. url:https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. ICDO:9877/3 NCI:C82431 SNOMEDCT_US_2023_03_01:703820005 UMLS_CUI:C2826177 disease_ontology DOID:0081089 acute myeloid leukemia with mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. url:https://pubmed.ncbi.nlm.nih.gov/32609823/ An acute myeloid leukemia with double mutations of the CEBPA gene. ICDO:9878/3 NCI:C129782 disease_ontology DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA An acute myeloid leukemia with double mutations of the CEBPA gene. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/ An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. ICDO:9879/3 NCI:C129786 disease_ontology DOID:0081091 acute myeloid leukemia with mutated RUNX1 An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/32871587/ An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. ICDO:9895/3 NCI:C7600 SNOMEDCT_US_2023_03_01:128827005 UMLS_CUI:C2825139 disease_ontology DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/32864703/ An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. ICDO:9896/3 NCI:C9288 Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 acute myeloid leukemia, t(8;21)(q22;q22) disease_ontology DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. url:https://pubmed.ncbi.nlm.nih.gov/31004601/ url:https://pubmed.ncbi.nlm.nih.gov/35502592/ An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. ICDO:9897/3 NCI:C174129 Acute Myeloid Leukemia with KMT2A/MLL Rearrangement acute myeloid leukemia, 11q23 abnormalities disease_ontology DOID:0081094 acute myeloid leukemia with MLL rearrangement An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. url:https://pubmed.ncbi.nlm.nih.gov/34964255/ An acute myeloid leukemia with non-germline mutations of the CEBPA gene. ICDO:9861/3 NCI:C82433 disease_ontology DOID:0081095 acute myeloid leukemia with mutated CEBPA An acute myeloid leukemia with non-germline mutations of the CEBPA gene. url:https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. ICDO:9911/3 NCI:C82427 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 disease_ontology DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. url:https://pubmed.ncbi.nlm.nih.gov/22469944/ A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. ICDO:8273/3 NCI:C155304 Pituitary Gland Blastoma disease_ontology DOID:0081244 pituitary blastoma A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. url:https://pubmed.ncbi.nlm.nih.gov/35291028/ A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. ICDO:8693/3 NCI:C5324 Cauda equina neuroendocrine tumour Spinal neuroendocrine tumors disease_ontology DOID:0081245 Previously known as spinal paragangliomas. cauda equina neuroendocrine tumor A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. url:https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. ICDO:9084/3 NCI:C4289 disease_ontology DOID:0081246 teratoma with somatic-type malignancy A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/ A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. ICDO:9243/3 NCI:C6476 disease_ontology DOID:0081247 dedifferentiated chondrosarcoma A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. url:https://pubmed.ncbi.nlm.nih.gov/34734747/ An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. ICDO:9361/1 NCI:C6966 Pinealocytoma Pinealoma disease_ontology DOID:0081248 pineocytoma An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. url:https://rarediseases.org/gard-rare-disease/pineocytoma/ A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. NCI:C165671 EWSR1-Negative Small Blue Round Cell Tumor disease_ontology DOID:0081249 EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/28346326/ An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. ICDO:9367/3 NCI:C120224 Capicua transcriptional repressor (CIC)-rearranged sarcoma disease_ontology DOID:0081250 CIC-rearranged sarcoma An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. url:https://pubmed.ncbi.nlm.nih.gov/31288305/ url:https://pubmed.ncbi.nlm.nih.gov/32796172/ url:https://pubmed.ncbi.nlm.nih.gov/33680459/ A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. ICDO:9395/3 NCI:C92624 Papillary tumour of the pineal region disease_ontology DOID:0081251 papillary tumor of the pineal region A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. url:https://pubmed.ncbi.nlm.nih.gov/29691144/ A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. ICDO:9396/3 NCI:C186350 disease_ontology DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. url:https://pubmed.ncbi.nlm.nih.gov/33879448/ A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. ICDO:9396/3 NCI:C186351 disease_ontology DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. url:https://pubmed.ncbi.nlm.nih.gov/33879448/ A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. ICDO:9396/3 NCI:C186450 Posterior Fossa Ependymoma, Group A (PFA) Posterior fossa group A (PFA) ependymoma disease_ontology DOID:0081254 posterior fossa group A ependymoma A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. url:https://pubmed.ncbi.nlm.nih.gov/29909548/ A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. ICDO:9396/3 NCI:C186451 Posterior Fossa Ependymoma, Group B (PFB) Posterior fossa group B (PFB) ependymoma disease_ontology DOID:0081255 posterior fossa group B ependymoma A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. url:https://pubmed.ncbi.nlm.nih.gov/33902636/ An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. ICDO:9400/3 NCI:C129271 disease_ontology DOID:0081256 astrocytoma, IDH-mutant, grade 2 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. url:https://pubmed.ncbi.nlm.nih.gov/35902341/ An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. ICDO:9401/3 NCI:C129290 disease_ontology DOID:0081257 astrocytoma, IDH-mutant, grade 3 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. url:https://pubmed.ncbi.nlm.nih.gov/34377594/ A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. ICDO:9412/1 NCI:C4738 NCI:C9476 Desmoplastic Infantile Astrocytoma desmoplastic infantile ganglioglioma desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma disease_ontology DOID:0081259 WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma. desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. url:https://pubmed.ncbi.nlm.nih.gov/31223403/ url:https://pubmed.ncbi.nlm.nih.gov/35015431/ A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. ICDO:9421/1 NCI:C185218 disease_ontology DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. url:https://pubmed.ncbi.nlm.nih.gov/35562133/ A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. ICDO:9431/1 NCI:C92552 disease_ontology DOID:0081261 angiocentric glioma A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. url:https://pubmed.ncbi.nlm.nih.gov/34863434/ A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. ICDO:9385/3 NCI:C185467 diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype disease_ontology DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. url:https://pubmed.ncbi.nlm.nih.gov/34858308/ A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. ICDO:9385/3 NCI:C185471 disease_ontology DOID:0081278 infant-type hemispheric glioma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. url:https://pubmed.ncbi.nlm.nih.gov/35404193/ url:https://pubmed.ncbi.nlm.nih.gov/36315913/ url:https://pubmed.ncbi.nlm.nih.gov/36316040/ A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. ICDO:9421/1 NCI:C185196 disease_ontology DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. url:https://pubmed.ncbi.nlm.nih.gov/35015431/ A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. ICDO:9432/1 NCI:C94524 disease_ontology DOID:0081280 pituicytoma A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. url:https://en.wikipedia.org/wiki/Pituicytoma url:https://pubmed.ncbi.nlm.nih.gov/36057248/ url:https://pubmed.ncbi.nlm.nih.gov/36180358/ A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. ICDO:9509/1 NCI:C92554 Papillary glioneuronal tumour disease_ontology DOID:0081283 papillary glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. url:https://pubmed.ncbi.nlm.nih.gov/35854961/ A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. ICDO:9509/1 NCI:C129431 RGNT Rosette-forming glioneuronal tumour disease_ontology DOID:0081284 rosette-forming glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. url:https://pubmed.ncbi.nlm.nih.gov/36230557/ A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. ICDO:9509/1 NCI:C179229 Myxoid glioneuronal tumour disease_ontology DOID:0081285 myxoid glioneuronal tumor A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. url:https://pubmed.ncbi.nlm.nih.gov/34297434/ A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. ICDO:9478/3 NCI:C186534 Embryonal tumour with multilayered rosettes disease_ontology DOID:0081286 embryonal tumor with multilayered rosettes A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. url:https://pubmed.ncbi.nlm.nih.gov/36451902/ A mucoepidermoid carcinoma located_in the salivary gland. NCI:C5908 disease_ontology DOID:0081293 salivary gland mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the salivary gland. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. ICDO:9509/3 NCI:C129424 Diffuse leptomeningeal glioneuronal tumour disease_ontology DOID:0081302 diffuse leptomeningeal glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. url:https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. ICDO:9509/0 NCI:C129427 disease_ontology DOID:0081303 multinodular and vacuolating neuronal tumor A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. url:https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. ICDO:9421/3 NCI:C185879 disease_ontology DOID:0081304 high-grade astrocytoma with piloid features An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. url:https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/ A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. ICDO:9413/0 NCI:C180378 Massively Calcified Low Grade Glioma Polymorphous low-grade neuroepithelial tumour of the young disease_ontology DOID:0081305 polymorphous low grade neuroepithelial tumour of the young A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. url:https://journals.sagepub.com/doi/full/10.1177/20363613221083360 A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. ICDO:8290/0 NCI:C94537 disease_ontology DOID:0081306 spindle cell oncocytoma A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/ A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. ICD10CM:C83.8 ICDO:9766/1 MESH:D008230 NCI:C7930 SNOMEDCT_US_2023_03_01:60337005 UMLS_CUI:C0024307 disease_ontology DOID:0081307 lymphomatoid granulomatosis A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/ A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. ICDO:9766/1 NCI:C7931 UMLS_CUI:C0279065 disease_ontology DOID:0081308 grade I lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. ICDO:9712/3 NCI:C4342 disease_ontology DOID:0081311 intravascular large B-cell lymphoma A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. url:https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon A non-Hodgkin lymphoma of T-cell lineage. ICDO:9702/3 MESH:D016399 NCI:C3466 SNOMEDCT_US_2023_03_01:3172003 UMLS_CUI:C0079772 disease_ontology DOID:0081312 T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. url:https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html A diffuse large B-cell lymphoma arising from the central nervous system. ICDO:9680/3 NCI:C71720 SNOMEDCT_US_2023_03_01:734066005 UMLS_CUI:C2026186 disease_ontology DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/ A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. ICDO:9506/1 NCI:C92555 disease_ontology DOID:0081314 extraventricular neurocytoma A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. url:https://pubmed.ncbi.nlm.nih.gov/24357019/ A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. ICDO:9500/3 NCI:C186556 CNS tumour with BCOR internal tandem duplication disease_ontology DOID:0081315 central nervous system tumor with BCOR internal tandem duplication A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. url:https://pubmed.ncbi.nlm.nih.gov/35809497/ A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. ICDO:9480/3 NCI:C186610 disease_ontology DOID:0081316 primary intracranial sarcoma, DICER1-mutant A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. url:https://pubmed.ncbi.nlm.nih.gov/35789272/ A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. ICD10CM:E74.01 MESH:D005953 NCI:C84733 ORDO:364 SNOMEDCT_US_2023_03_01:7265005 UMLS_CUI:C0017920 Glycogen storage disease 1 deficiency of glucose-6-phosphatase glycogen storage disease type I glycogenosis type I von Gierke disease von Gierke's disease disease_ontology DOID:0081329 glycogen storage disease I A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. url:https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:https://www.ncbi.nlm.nih.gov/books/NBK1312/ url:https://www.omim.org/entry/232200#33 A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. ICDO:9368/3 NCI:C178465 BCOR-Rearranged Sarcoma disease_ontology DOID:0081402 sarcoma with BCOR genetic alterations A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. url:https://pubmed.ncbi.nlm.nih.gov/35730501/ url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. NCI:C178468 disease_ontology DOID:0081403 BCOR ITD sarcoma A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. NCI:C178466 disease_ontology DOID:0081404 BCOR-CCNB3 sarcoma A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that occurs during childhood. NCI:C189007 disease_ontology DOID:0081405 childhood sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. ICDO:9366/3 NCI:C178459 Ewing-Like Sarcoma or Round Cell Sarcoma Round Cell Sarcoma with EWSR1::non-ETS Fusion disease_ontology DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. url:https://pubmed.ncbi.nlm.nih.gov/35430129/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. NCI:C189003 disease_ontology DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. NCI:C178460 disease_ontology DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/35430129/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. NCI:C178461 disease_ontology DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/30379650/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. NCI:C178462 disease_ontology DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/31078563/ A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. NCI:C199260 disease_ontology DOID:0081411 B acute lymphoblastic leukemia with PAX5 P80R mutation A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. url:https://pubmed.ncbi.nlm.nih.gov/30510083/ url:https://pubmed.ncbi.nlm.nih.gov/32463891/ url:https://pubmed.ncbi.nlm.nih.gov/36241730/ A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. NCI:C199232 disease_ontology DOID:0081412 B acute lymphoblastic leukemia with DUX4 rearrangement A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. url:https://pubmed.ncbi.nlm.nih.gov/36602820/ A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. ICDO:8311/3 NCI:C154494 MiT Family Translocation-Associated Renal Cell Carcinoma MiT family translocation renal cell carcinoma disease_ontology DOID:0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. url:https://pubmed.ncbi.nlm.nih.gov/25758327/ url:https://pubmed.ncbi.nlm.nih.gov/31382581/ url:https://pubmed.ncbi.nlm.nih.gov/36672892/ url:https://pubmed.ncbi.nlm.nih.gov/37060647/ A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. NCI:C37210 Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB t(6;11) Renal Cell Carcinoma t(6;11);(p21;q12) Renal Cell Carcinoma disease_ontology DOID:0081414 TFEB-rearranged renal cell carcinoma A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. url:https://pubmed.ncbi.nlm.nih.gov/36830782/ A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. NCI:C27891 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions Xp11 Translocation Renal Cell Carcinoma disease_ontology DOID:0081415 TFE3-rearranged renal cell carcinoma A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. url:https://pubmed.ncbi.nlm.nih.gov/38104891/ A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. NCI:C189242 disease_ontology DOID:0081416 childhood renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/37528880/ A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. ICDO:9370/3 NCI:C177898 disease_ontology DOID:0081417 poorly differentiated chordoma A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/29483606/ url:https://pubmed.ncbi.nlm.nih.gov/34482218/ A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. ICDO:8802/3 NCI:C154496 disease_ontology DOID:0081418 anaplastic sarcoma of the kidney A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. url:https://pubmed.ncbi.nlm.nih.gov/17895746/ url:https://pubmed.ncbi.nlm.nih.gov/27006300/ url:https://pubmed.ncbi.nlm.nih.gov/28862265/ An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. GARD:7653 MESH:C537345 NCI:C125694 OMIM:210250 ORDO:2882 SNOMEDCT_US_2023_03_01:238104009 UMLS_CUI:C0342907 phytosterolemia disease_ontology DOID:0090019 sitosterolemia An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11099417 url:https://www.ncbi.nlm.nih.gov/pubmed/11138003 A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. GARD:6319 MESH:C574275 NCI:C75000 OMIM:PS183600 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 lobster-claw deformity split-hand deformity disease_ontology DOID:0090020 split hand-foot malformation A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. url:https://www.ncbi.nlm.nih.gov/pubmed/12668597 url:https://www.ncbi.nlm.nih.gov/pubmed/7802032 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. MESH:C574275 NCI:C75000 OMIM:606708 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM5 disease_ontology DOID:0090022 split hand-foot malformation 5 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10364522 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. MESH:C574275 NCI:C75000 OMIM:605289 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM4 disease_ontology DOID:0090023 split hand-foot malformation 4 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10839977 A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. MESH:C574275 NCI:C75000 OMIM:246560 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia disease_ontology DOID:0090025 split hand-foot malformation 3 A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/14699611 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. MESH:C574275 NCI:C75000 OMIM:225300 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM6 disease_ontology DOID:0090026 split hand-foot malformation 6 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18515319 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. MESH:C574275 NCI:C75000 OMIM:313350 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM2 disease_ontology DOID:0090027 split hand-foot malformation 2 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/15617554 A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. MESH:C535393 NCI:C155996 OMIM:277460 ORDO:96 SNOMEDCT_US_2023_03_01:702442008 UMLS_CUI:C1848533 ataxia with isolated vitamin E deficiency familial isolated vitamin E deficiency disease_ontology DOID:0090028 familial isolated deficiency of vitamin E A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/2298915 url:https://www.ncbi.nlm.nih.gov/pubmed/7719340 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. GARD:5682 MESH:C535325 NCI:C138171 OMIM:261640 ORDO:13 SNOMEDCT_US_2023_03_01:237914002 UMLS_CUI:C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency HPABH4A PTS deficiency hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency disease_ontology DOID:0090106 BH4-deficient hyperphenylalaninemia A A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. url:https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency url:https://www.omim.org/entry/261640 A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. GARD:640 MESH:C535982 NCI:C115207 OMIM:604498 ORDO:3319 SNOMEDCT_US_2023_03_01:716336002 UMLS_CUI:C1327915 CAMT congenital amegakaryocytic thrombocytopenic purpura disease_ontology DOID:0090118 congenital amegakaryocytic thrombocytopenia A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/29191945 url:https://www.ncbi.nlm.nih.gov/pubmed/29384262 url:https://www.omim.org/entry/604498 An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. GARD:770 ICD10CM:E70.81 MESH:C537437 NCI:C142085 OMIM:608643 ORDO:35708 SNOMEDCT_US_2023_03_01:124600004 UMLS_CUI:C1291564 AADC deficiency disease_ontology DOID:0090123 aromatic L-amino acid decarboxylase deficiency An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. url:https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency url:https://www.omim.org/entry/608643 A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. NCI:C131084 OMIM:614662 CORTRD2 disease_ontology DOID:0090140 cortisone reductase deficiency 2 A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/29843121 url:https://www.omim.org/entry/614662 A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. NCI:C131849 OMIM:604931 CORTRD1 disease_ontology DOID:0090141 cortisone reductase deficiency 1 A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/29843121 url:https://www.omim.org/entry/604931 An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. GARD:2428 ICD10CM:E72.19 MESH:C535408 NCI:C129070 OMIM:219500 ORDO:212 SNOMEDCT_US_2023_03_01:13003007 SNOMEDCT_US_2023_03_01:6885006 UMLS_CUI:C0220993 UMLS_CUI:C0268616 cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency disease_ontology DOID:0090142 cystathioninuria An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/20584029 url:https://www.omim.org/entry/219500 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. GARD:8694 MESH:D010013 NCI:C99003 OMIM:166200 ORDO:216796 SNOMEDCT_US_2023_03_01:3508009 UMLS_CUI:C0023931 OI1 osteogenesis imperfecta type I disease_ontology DOID:0110334 osteogenesis imperfecta type 1 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2873381 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. MESH:C537384 NCI:C118783 OMIM:607855 ORDO:258 SNOMEDCT_US_2023_03_01:787037000 UMLS_CUI:C1263858 CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency disease_ontology DOID:0110636 congenital merosin-deficient muscular dystrophy 1A A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24611677 url:https://www.ncbi.nlm.nih.gov/pubmed/7550355 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. MESH:D052245 NCI:C126328 ORDO:231178 SNOMEDCT_US_2021_09_01:232058008 USH2 disease_ontology DOID:0110827 Usher syndrome type 2 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1341/ url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/9624053 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. GARD:5442 MESH:D052245 NCI:C126329 ORDO:231183 USH3 disease_ontology DOID:0110828 Usher syndrome type 3 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/8864816 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. GARD:4684 MESH:D052245 NCI:C126329 OMIM:500004 ORDO:231183 SNOMEDCT_US_2023_03_01:1010610007 UMLS_CUI:C1568248 disease_ontology DOID:0110829 Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb. retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. url:https://www.ncbi.nlm.nih.gov/pubmed/10090882 A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. GARD:8378 ICD10CM:Q61.1 ICD9CM:753.14 MESH:D017044 NCI:C84579 OMIM:263200 ORDO:731 SNOMEDCT_US_2023_03_01:28770003 UMLS_CUI:C0085548 Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1 disease_ontology DOID:0110861 autosomal recessive polycystic kidney disease A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. url:https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. MESH:D014849 NCI:C75008 OMIM:193500 ORDO:894 SNOMEDCT_US_2023_03_01:1010606009 UMLS_CUI:C1847800 WS1 Waardenburg syndrome type I disease_ontology DOID:0110948 Waardenburg syndrome type 1 A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. url:https://www.ncbi.nlm.nih.gov/pubmed/1347148 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. GARD:2562 ICD10CM:D69.1 MESH:D055652 NCI:C84741 OMIM:139090 ORDO:721 SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4 disease_ontology DOID:0111044 gray platelet syndrome A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/17768118 url:https://www.ncbi.nlm.nih.gov/pubmed/21765411 url:https://www.ncbi.nlm.nih.gov/pubmed/21765412 url:https://www.ncbi.nlm.nih.gov/pubmed/21765413 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. ICD10CM:D69.1 MESH:D055652 NCI:C84741 OMIM:187900 SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 BDPLT17 hereditary thrombasthenia-thrombocytopenia disease_ontology DOID:0111049 platelet-type bleeding disorder 17 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24325358 url:https://www.ncbi.nlm.nih.gov/pubmed/5681484 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. ICD10CM:D68.03 MESH:D056729 NCI:C85213 OMIM:277480 ORDO:166096 SNOMEDCT_US_2023_03_01:128108002 UMLS_CUI:C1264041 VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III disease_ontology DOID:0111054 von Willebrand's disease 3 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19630771 url:https://www.ncbi.nlm.nih.gov/pubmed/3258663 A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. GARD:11973 ICD10CM:C86.5 ICDO:9705/3 MEDDRA:10002449 MESH:D007119 NCI:C7528 ORDO:86886 SNOMEDCT_US_2023_03_01:52097008 UMLS_CUI:C0020981 disease_ontology DOID:0111147 angioimmunoblastic T-cell lymphoma A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. url:https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/ url:https://www.lymphoma.org/aboutlymphoma/nhl/aitl/ url:https://www.ncbi.nlm.nih.gov/pubmed/22700722 A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. ICD10CM:Q12.1 ICD9CM:743.37 MESH:C536184 MESH:D004479 NCI:C125484 ORDO:1885 SNOMEDCT_US_2023_03_01:231976001 UMLS_CUI:C0013581 UMLS_CUI:C2746069 IEL familial ectopia lentis disease_ontology DOID:0111148 isolated ectopia lentis A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. url:https://www.ncbi.nlm.nih.gov/pubmed/20141359 A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. GARD:9644 MESH:C537372 NCI:C27855 ORDO:93686 SNOMEDCT_US_2023_03_01:1156805003 UMLS_CUI:C1334815 MCD PMCD multicentric giant lymph node hyperplasia plasmablastic multicentric Castleman disease disease_ontology DOID:0111152 multicentric Castleman disease A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. url:http://www.bloodjournal.org/content/129/12/1646 url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. GARD:12656 ICD10CM:D47.Z2 MESH:C536362 MESH:D005871 NCI:C3056 ORDO:160 SNOMEDCT_US_2023_03_01:207036003 UMLS_CUI:C0017531 UMLS_CUI:C2931179 angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma disease_ontology DOID:0111157 Castleman disease A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. url:https://rarediseases.org/rare-diseases/castlemans-disease/ A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. MESH:D054221 NCI:C116933 OMIM:600348 ORDO:99796 UMLS_CUI:C1848201 HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia disease_ontology DOID:0111169 subcortical band heterotopia A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. url:https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia url:https://www.ncbi.nlm.nih.gov/pubmed/24859200 An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. MESH:C566675 NCI:C132826 OMIM:182960 ORDO:139518 SNOMEDCT_US_2023_03_01:770630005 UMLS_CUI:C1866784 HMN I autosomal dominant distal juvenile spinal muscular atrophy type 1 dHMN1 distal hereditary motor neuronopathy type 1 distal hereditary motor neuropathy type I spinal Charcot-Marie-Tooth disease 1 disease_ontology DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. url:https://www.ncbi.nlm.nih.gov/pubmed/17354000 url:https://www.ncbi.nlm.nih.gov/pubmed/7365507 A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. GARD:11925 ICD10CM:G71.220 MESH:D020914 NCI:C118781 OMIM:310400 ORDO:596 SNOMEDCT_US_2023_03_01:46804001 UMLS_CUI:C0410203 CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1 disease_ontology DOID:0111225 centronuclear myopathy X-linked A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/8640223 A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. GARD:7193 ICD10CM:Q85.02 ICD9CM:237.72 MESH:D016518 NCI:C3274 OMIM:101000 ORDO:637 SNOMEDCT_US_2023_03_01:92503002 UMLS_CUI:C0027832 ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3 disease_ontology DOID:0111252 vestibular schwannomatosis GARD:7193 ICD10CM:Q85.02 ICD9CM:237.72 MESH:D016518 NCI:C3274 OMIM:101000 ORDO:637 SNOMEDCT_US_2023_03_01:92503002 UMLS_CUI:C0027832 ORDO:634475 A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. url:https://pubmed.ncbi.nlm.nih.gov/35674741/ A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. ICD10CM:Q85.01 ICD9CM:237.71 MESH:D009456 NCI:C3273 OMIM:162200 ORDO:636 SNOMEDCT_US_2023_03_01:92824003 UMLS_CUI:C0027831 NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease disease_ontology DOID:0111253 neurofibromatosis 1 ICD10CM:Q85.01 ICD9CM:237.71 MESH:D009456 NCI:C3273 OMIM:162200 ORDO:636 SNOMEDCT_US_2023_03_01:92824003 UMLS_CUI:C0027831 A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. url:https://pubmed.ncbi.nlm.nih.gov/34012067/ url:https://pubmed.ncbi.nlm.nih.gov/35698197/ A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. GARD:1418 MESH:C536434 NCI:C126744 OMIM:600373 ORDO:1458 SNOMEDCT_US_2023_03_01:717772000 UMLS_CUI:C1838180 cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome disease_ontology DOID:0111274 CODAS syndrome A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25574826 A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. GARD:3684 MESH:C566945 NCI:C98991 OMIM:609015 ORDO:746 SNOMEDCT_US_2023_03_01:237999008 UMLS_CUI:C1969443 MTPD TFP deficiency TFPD disease_ontology DOID:0111277 mitochondrial trifunctional protein deficiency A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12754706 url:https://www.ncbi.nlm.nih.gov/pubmed/12838198 url:https://www.ncbi.nlm.nih.gov/pubmed/7738175 A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. GARD:7588 ICDO:9749/3 NCI:C36075 OMIM:602782 Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy disease_ontology DOID:0111278 histiocytosis-lymphadenopathy plus syndrome A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/20140240 A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. GARD:6796 MESH:C537559 NCI:C123814 OMIM:123150 ORDO:1540 SNOMEDCT_US_2023_03_01:709105005 UMLS_CUI:C0795998 JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome disease_ontology DOID:0111337 Jackson-Weiss syndrome A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. url:https://www.ncbi.nlm.nih.gov/pubmed/1271196 url:https://www.ncbi.nlm.nih.gov/pubmed/7874170 A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. GARD:6455 MESH:C537062 NCI:C175241 OMIM:136140 ORDO:2044 SNOMEDCT_US_2023_03_01:205810007 UMLS_CUI:C0729582 FLHS disease_ontology DOID:0111358 Floating-Harbor syndrome A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. url:https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22265015 url:https://www.ncbi.nlm.nih.gov/pubmed/7588969 A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. GARD:2469 MEDDRA:10072036 MESH:C536819 NCI:C3944 NCI:C4234 OMIM:137550 ORDO:626 SNOMEDCT_US_2023_03_01:254815002 SNOMEDCT_US_2023_03_01:84953004 UMLS_CUI:C1318558 UMLS_CUI:C1842036 Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN disease_ontology DOID:0111359 large congenital melanocytic nevus A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/18671780 url:https://www.ncbi.nlm.nih.gov/pubmed/23392294 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. MESH:C564591 NCI:C128806 OMIM:143470 SNOMEDCT_US_2023_03_01:238080004 UMLS_CUI:C0342883 HALP1 disease_ontology DOID:0111369 hyperalphalipoproteinemia 1 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/2215607 url:https://www.ncbi.nlm.nih.gov/pubmed/6738363 A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. GARD:9634 MESH:C536647 NCI:C129071 OMIM:PS208150 ORDO:994 SNOMEDCT_US_2023_03_01:401138005 UMLS_CUI:C1276035 FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence disease_ontology DOID:0111375 fetal akinesia deformation sequence syndrome A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. url:https://www.ncbi.nlm.nih.gov/pubmed/19261599 url:https://www.ncbi.nlm.nih.gov/pubmed/22482962 url:https://www.ncbi.nlm.nih.gov/pubmed/30498368 A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. GARD:12560 ICD10CM:E76.02 MESH:D008059 NCI:C122782 OMIM:607015 ORDO:93476 SNOMEDCT_US_2023_03_01:26745009 UMLS_CUI:C0086431 MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S disease_ontology DOID:0111389 mucopolysaccharidosis Ih/s A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10466419 url:https://www.ncbi.nlm.nih.gov/pubmed/2128891 url:https://www.ncbi.nlm.nih.gov/pubmed/7550242 A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. GARD:12559 ICD10CM:E76.01 MESH:D008059 NCI:C61261 OMIM:607014 ORDO:93473 SNOMEDCT_US_2023_03_01:65327002 UMLS_CUI:C0086795 Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism disease_ontology DOID:0111390 mucopolysaccharidosis Ih A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/3124802 url:https://www.ncbi.nlm.nih.gov/pubmed/7550242 A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. GARD:3785 ICD10CM:E76.210 MESH:D009085 NCI:C84901 OMIM:253000 ORDO:309297 SNOMEDCT_US_2023_03_01:7259005 UMLS_CUI:C0086651 GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A disease_ontology DOID:0111391 mucopolysaccharidosis IVA A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18412124 url:https://www.ncbi.nlm.nih.gov/pubmed/7607677 A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. ICD10CM:E76.211 MESH:D009085 NCI:C84902 OMIM:253010 ORDO:309310 SNOMEDCT_US_2023_03_01:254075008 UMLS_CUI:C0086652 MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio) disease_ontology DOID:0111392 mucopolysaccharidosis type IVB A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1928092 url:https://www.ncbi.nlm.nih.gov/pubmed/817853 A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. GARD:7073 ICD10CM:E76.22 MESH:D009084 NCI:C84899 OMIM:252930 ORDO:79271 SNOMEDCT_US_2023_03_01:75238000 UMLS_CUI:C0086649 Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C) disease_ontology DOID:0111393 mucopolysaccharidosis type IIIC A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16960811 A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. GARD:7072 ICD10CM:E76.22 MESH:D009084 NCI:C84898 OMIM:252920 ORDO:79270 SNOMEDCT_US_2023_03_01:254071004 UMLS_CUI:C0086648 MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B) disease_ontology DOID:0111394 mucopolysaccharidosis type IIIB A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15933803 url:https://www.ncbi.nlm.nih.gov/pubmed/8650226 A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. ICD10CM:E76.22 MESH:D009084 NCI:C84897 OMIM:252900 ORDO:79269 SNOMEDCT_US_2023_03_01:254070003 UMLS_CUI:C0086647 MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A) disease_ontology DOID:0111395 mucopolysaccharidosis type IIIA A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6796310 url:https://www.ncbi.nlm.nih.gov/pubmed/7493035 A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. NCI:C157148 OMIM:613673 ORDO:293825 SNOMEDCT_US_2023_03_01:719453009 UMLS_CUI:C3150926 CDA IV CDA due to KLF1 mutation CDA type 4 CDA type IV CDAN4 Congenital dyserythropoietic anaemia due to KLF1 mutation Congenital dyserythropoietic anaemia type 4 Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anaemia type IV disease_ontology DOID:0111400 congenital dyserythropoietic anemia type IV A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/21055716 A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. GARD:2001 MESH:D000742 NCI:C175991 OMIM:224100 ORDO:98873 SNOMEDCT_US_2023_03_01:68870007 UMLS_CUI:C1306589 CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II disease_ontology DOID:0111401 congenital dyserythropoietic anemia type II A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/19561605 A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. GARD:7074 ICD10CM:E76.22 MESH:D009084 NCI:C84900 OMIM:252940 ORDO:79272 SNOMEDCT_US_2023_03_01:15892005 UMLS_CUI:C0086650 GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D disease_ontology DOID:0111402 mucopolysaccharidosis type IIID A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12573255 A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. NCI:C142804 OMIM:616187 ORDO:435438 SNOMEDCT_US_2023_03_01:1208939001 UMLS_CUI:C4015420 EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 disease_ontology DOID:0111447 progressive myoclonus epilepsy 7 A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25401298 A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. GARD:13639 MESH:D005693 NCI:C99104 OMIM:230400 ORDO:79239 SNOMEDCT_US_2023_03_01:398664009 UMLS_CUI:C0268151 GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1 disease_ontology DOID:0111459 classic galactosemia A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11261429 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. MESH:C563797 NCI:C125663 OMIM:609060 ORDO:137681 UMLS_CUI:C1836797 COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disease_ontology DOID:0111474 combined oxidative phosphorylation deficiency 1 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. url:https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. GARD:333 MESH:C537710 NCI:C128191 OMIM:153400 ORDO:33001 SNOMEDCT_US_2023_03_01:8634009 UMLS_CUI:C0265345 LPHDST lymphedema with distichiasis disease_ontology DOID:0111509 lymphedema-distichiasis syndrome A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11078474 An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. GARD:6984 MESH:C536025 NCI:C128115 OMIM:154780 ORDO:560 SNOMEDCT_US_2023_03_01:33410002 UMLS_CUI:C0265235 MRSHS deafness, myopia, cataract, saddle nose-Marshall type disease_ontology DOID:0111510 Marshall syndrome An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/13520885 url:https://www.ncbi.nlm.nih.gov/pubmed/25073711 url:https://www.ncbi.nlm.nih.gov/pubmed/9529347 A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. GARD:8468 MESH:C536149 NCI:C176905 OMIM:155755 ORDO:252206 SNOMEDCT_US_2023_03_01:717968005 UMLS_CUI:C1835042 melanoma-astrocytoma syndrome disease_ontology DOID:0111511 melanoma and neural system tumor syndrome A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10797439 url:https://www.ncbi.nlm.nih.gov/pubmed/8414022 url:https://www.ncbi.nlm.nih.gov/pubmed/8635060 A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:3571 MESH:C537356 NCI:C175209 OMIM:156530 ORDO:2635 SNOMEDCT_US_2023_03_01:22764001 UMLS_CUI:C0265281 metatropic dwarfism disease_ontology DOID:0111514 metatropic dysplasia A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://ghr.nlm.nih.gov/condition/metatropic-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/18348257 url:https://www.ncbi.nlm.nih.gov/pubmed/4963592 A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. MESH:C567186 NCI:C120376 OMIM:158330 ORDO:247768 UMLS_CUI:C2675014 Mullerian duct failure and hyperandrogenism WNT4 deficiency disease_ontology DOID:0111526 Mullerian aplasia and hyperandrogenism A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/15317892 An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. GARD:8419 ICD10CM:H47.03 ICD9CM:377.43 MESH:D000080344 NCI:C98999 OMIM:165550 ORDO:137902 SNOMEDCT_US_2023_03_01:95499004 UMLS_CUI:C0338502 ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia disease_ontology DOID:0111531 bilateral optic nerve hypoplasia An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12721955 A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. GARD:3818 MESH:C567171 NCI:C178416 OMIM:166300 ORDO:2774 SNOMEDCT_US_2023_03_01:766992008 UMLS_CUI:C2674705 MCTO autosomal dominant multicentric osteolysis hereditary osteolysis of carpal bones with or without nephropathy idiopathic multicentric osteolysis with or without nephropathy multicentric carpo-tarsal osteolysis with or without nephropathy multicentric osteolysis nephropathy disease_ontology DOID:0111534 multicentric carpotarsal osteolysis syndrome A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22387013 url:https://www.ncbi.nlm.nih.gov/pubmed/3041835 A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. GARD:109 MEDDRA:10048902 MESH:C562735 NCI:C132062 OMIM:166350 ORDO:2762 SNOMEDCT_US_2023_03_01:404074003 UMLS_CUI:C0334041 POH ectopic ossification familial type familial ectopic ossification osteoma cutis disease_ontology DOID:0111535 progressive osseous heteroplasia A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. url:https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia url:https://www.ncbi.nlm.nih.gov/pubmed/11784876 url:https://www.ncbi.nlm.nih.gov/pubmed/8126048 An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. GARD:12854 MESH:C563475 NCI:C125385 OMIM:167400 ORDO:46348 SNOMEDCT_US_2023_03_01:699190008 UMLS_CUI:C1833661 PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing disease_ontology DOID:0111537 paroxysmal extreme pain disorder An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. url:https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder url:https://www.ncbi.nlm.nih.gov/pubmed/17145499 A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. GARD:7325 ICD10CM:G71.19 MESH:D020967 NCI:C122790 OMIM:168300 ORDO:684 SNOMEDCT_US_2023_03_01:41574007 UMLS_CUI:C0221055 Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita disease_ontology DOID:0111538 paramyotonia congenita of Von Eulenburg A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. url:https://ghr.nlm.nih.gov/condition/paramyotonia-congenita url:https://www.ncbi.nlm.nih.gov/pubmed/1316765 An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. GARD:7473 MESH:D056732 NCI:C85029 OMIM:170100 ORDO:742 SNOMEDCT_US_2023_03_01:360994007 UMLS_CUI:C0268532 hyperimidodipeptiduria imidodipeptidase deficiency peptidase deficiency disease_ontology DOID:0111540 prolidase deficiency An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. url:https://ghr.nlm.nih.gov/condition/prolidase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/18340504 url:https://www.ncbi.nlm.nih.gov/pubmed/1972707 A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. GARD:5025 MESH:C566112 NCI:C118636 OMIM:184900 ORDO:2833 SNOMEDCT_US_2023_03_01:765187004 UMLS_CUI:C1861456 SSKS disease_ontology DOID:0111561 stiff skin syndrome A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20375004 A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. GARD:7706 ICD10CM:Q85.89 MESH:D013341 NCI:C3391 OMIM:185300 ORDO:3205 SNOMEDCT_US_2023_03_01:157030004 UMLS_CUI:C0038505 SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis disease_ontology DOID:0111563 Sturge-Weber syndrome A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. url:https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15165630 url:https://www.ncbi.nlm.nih.gov/pubmed/23656586 A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. GARD:849 MESH:C537669 NCI:C177251 OMIM:210000 SNOMEDCT_US_2023_03_01:66988006 UMLS_CUI:C0221061 Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of disease_ontology DOID:0111580 Behr syndrome A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/6747661 A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. MESH:C562876 NCI:C132196 OMIM:212070 SNOMEDCT_US_2023_03_01:234627009 UMLS_CUI:C0398782 anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B disease_ontology DOID:0111583 carboxypeptidase N deficiency A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12560874 url:https://www.ncbi.nlm.nih.gov/pubmed/7437116 A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. GARD:3373 MESH:C535580 MESH:C535703 NCI:C174217 OMIM:212112 ORDO:2229 SNOMEDCT_US_2023_03_01:719451006 UMLS_CUI:C0796031 UMLS_CUI:C0796083 Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy disease_ontology DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12927431 url:https://www.ncbi.nlm.nih.gov/pubmed/19283854 A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. GARD:1123 MESH:C562812 NCI:C133086 OMIM:212138 ORDO:159 SNOMEDCT_US_2023_03_01:238003000 UMLS_CUI:C0342791 CACT deficiency CACTD disease_ontology DOID:0111585 carnitine-acylcarnitine translocase deficiency A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. url:https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/15363639 url:https://www.ncbi.nlm.nih.gov/pubmed/9399886 A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. MESH:C536211 NCI:C129865 OMIM:121050 ORDO:115 SNOMEDCT_US_2023_03_01:205821003 UMLS_CUI:C0220668 Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis disease_ontology DOID:0111595 congenital contractural arachnodactyly A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/4552107 url:https://www.ncbi.nlm.nih.gov/pubmed/9106527 url:https://www.ncbi.nlm.nih.gov/pubmed/9714438 A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. ICD10CM:Q87.0 MESH:C535483 NCI:C98931 OMIM:193700 ORDO:2053 SNOMEDCT_US_2021_09_01:52616002 craniocarpotarsal dysplasia craniocarpotarsal dystrophy whistling face syndrome whistling face-windmill vane hand syndrome disease_ontology DOID:0111604 Freeman-Sheldon syndrome A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. url:https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/21032118 A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. GARD:5688 MESH:C536959 NCI:C148371 OMIM:218340 ORDO:1777 SNOMEDCT_US_2023_03_01:719947004 UMLS_CUI:C1857512 Temtamy-Shalash syndrome craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome dysmorphism, corpus callosum agenesis and colobomas disease_ontology DOID:0111621 Temtamy syndrome A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/23453666 A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. GARD:7710 ICD10CM:E74.31 MEDDRA:10066387 MESH:C538139 NCI:C128190 OMIM:222900 ORDO:35122 SNOMEDCT_US_2023_03_01:78373000 UMLS_CUI:C1283620 CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance disease_ontology DOID:0111633 congenital sucrase-isomaltase deficiency A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. url:https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/3925457 A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. MESH:D053358 NCI:C84562 OMIM:305100 ORDO:181 SNOMEDCT_US_2023_03_01:239007005 UMLS_CUI:C0162359 CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked disease_ontology DOID:0111664 ectodermal dysplasia 1 A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8434608 A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. MESH:D057770 NCI:C98297 OMIM:228600 ORDO:498474 SNOMEDCT_US_2023_03_01:238861002 UMLS_CUI:C2745948 HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis disease_ontology DOID:0111669 hyaline fibromatosis syndrome A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. url:https://www.ncbi.nlm.nih.gov/pubmed/22383261 A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. GARD:2835 MESH:C536414 NCI:C123212 OMIM:259900 ORDO:93598 SNOMEDCT_US_2023_03_01:65520001 UMLS_CUI:C0268164 HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency disease_ontology DOID:0111670 primary hyperoxaluria type 1 A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19479957 url:https://www.ncbi.nlm.nih.gov/pubmed/2039493 A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. GARD:2836 MESH:C536415 NCI:C123213 OMIM:260000 ORDO:93599 SNOMEDCT_US_2023_03_01:40951006 UMLS_CUI:C0268165 D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II disease_ontology DOID:0111671 primary hyperoxaluria type 2 A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. url:https://www.ncbi.nlm.nih.gov/books/NBK2692/ url:https://www.ncbi.nlm.nih.gov/pubmed/10484776 A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. GARD:10738 NCI:C123214 OMIM:613616 ORDO:93600 SNOMEDCT_US_2023_03_01:734990008 UMLS_CUI:C3150878 HP3 PH III primary hyperoxaluria type III disease_ontology DOID:0111672 primary hyperoxaluria type 3 A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. url:https://www.ncbi.nlm.nih.gov/books/NBK316514/ url:https://www.ncbi.nlm.nih.gov/pubmed/26340091 A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. GARD:2684 MESH:C537060 NCI:C98946 OMIM:228960 ORDO:483 SNOMEDCT_US_2023_03_01:27312002 UMLS_CUI:C0272340 Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency disease_ontology DOID:0111676 high molecular weight kininogen deficiency A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/12576314 url:https://www.ncbi.nlm.nih.gov/pubmed/2989293 A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. GARD:12983 MESH:C562799 NCI:C156424 OMIM:229050 ORDO:90045 SNOMEDCT_US_2023_03_01:62578003 UMLS_CUI:C0342705 congenital defect of folate absorption congenital folate malabsorption disease_ontology DOID:0111678 hereditary folate malabsorption A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. url:https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption url:https://www.ncbi.nlm.nih.gov/pubmed/17129779 A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. GARD:9762 MESH:C538356 NCI:C75456 OMIM:601224 ORDO:52022 SNOMEDCT_US_2023_03_01:702346005 UMLS_CUI:C1832588 11p11.2 deletion PSS proximal 11p deletion syndrome disease_ontology DOID:0111687 Potocki-Shaffer syndrome A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. url:https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20140962 url:https://www.ncbi.nlm.nih.gov/pubmed/8644736 A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. MESH:C538317 NCI:C129021 OMIM:600430 ORDO:1001 SNOMEDCT_US_2023_03_01:702357000 UMLS_CUI:C2931817 2q37 microdeletion syndrome Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome Albright's hereditary osteodystrophy-like syndrome BDMR Brachydactyly-intellectual disability syndrome Del(2)(q37) deletion 2q37 monosomy 2q37qter disease_ontology DOID:0111704 chromosome 2q37 deletion syndrome A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. url:https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23188045 url:https://www.ncbi.nlm.nih.gov/pubmed/24715439 url:https://www.ncbi.nlm.nih.gov/pubmed/25402011 A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. NCI:C120409 OMIM:616222 ORDO:254516 SNOMEDCT_US_2023_03_01:778012003 UMLS_CUI:C4015558 disease_ontology DOID:0111713 Temple syndrome A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/18454453 url:https://www.ncbi.nlm.nih.gov/pubmed/24891339 A physical disorder characterized by ocular dysplasia with eyelid malformation. ICD10CM:Q11.2 ICD9CM:743.06 NCI:C124520 ORDO:98562 SNOMEDCT_US_2023_03_01:62589005 UMLS_CUI:C0311249 cryptophthalmos disease_ontology DOID:0111716 cryptophthalmia A physical disorder characterized by ocular dysplasia with eyelid malformation. url:https://www.ncbi.nlm.nih.gov/pubmed/30802441 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. NCI:C125390 OMIM:615552 ORDO:391392 FEPS3 disease_ontology DOID:0111731 familial episodic pain syndrome 3 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/24207120 A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. MESH:C536197 NCI:C141423 OMIM:314400 ORDO:555877 SNOMEDCT_US_2023_03_01:67202007 UMLS_CUI:C0268341 CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD disease_ontology DOID:0111765 X-linked cardiac valvular dysplasia A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/17190868 A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. MESH:C564050 NCI:C134941 OMIM:314050 ORDO:231393 SNOMEDCT_US_2023_03_01:718196002 UMLS_CUI:C1839161 GATA1-related X-linked cytopenia XLTT beta-thalassemia-X-linked thrombocytopenia syndrome thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis disease_ontology DOID:0111767 X-linked thrombocytopenia with beta-thalassemia A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/18930124 url:https://www.ncbi.nlm.nih.gov/pubmed/22102271 An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. GARD:5121 MESH:C536065 NCI:C118845 OMIM:311300 ORDO:90650 SNOMEDCT_US_2023_03_01:54036001 UMLS_CUI:C0265251 OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I disease_ontology DOID:0111783 otopalatodigital syndrome type 1 An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/20301567 A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. GARD:267 MESH:C538337 NCI:C186306 OMIM:301026 ORDO:2662 SNOMEDCT_US_2023_03_01:763774001 UMLS_CUI:C1850627 KPTS nasodigitoacoustic syndrome disease_ontology DOID:0111842 Keipert syndrome A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30982611 A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. MESH:D054463 NCI:C4924 OMIM:PS601675 ORDO:33364 SNOMEDCT_US_2023_03_01:723551003 UMLS_CUI:C1955934 TTD disease_ontology DOID:0111866 trichothiodystrophy A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. MESH:D054463 NCI:C156433 OMIM:300953 TTD5 disease_ontology DOID:0111868 nonphotosensitive trichothiodystrophy 5 A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/25612912/ url:https://pubmed.ncbi.nlm.nih.gov/31880405/ A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. NCI:C156433 OMIM:601675 TTD1 disease_ontology DOID:0111873 photosensitive trichothiodystrophy 1 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. url:https://pubmed.ncbi.nlm.nih.gov/9195225/ A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. MESH:C566878 NCI:C132293 OMIM:300673 ORDO:209370 SNOMEDCT_US_2023_03_01:711487002 UMLS_CUI:C1968556 neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly disease_ontology DOID:0111932 severe congenital encephalopathy due to MECP2 mutation A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy url:https://pubmed.ncbi.nlm.nih.gov/12615169/ A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. GARD:7389 MESH:C567067 NCI:C126738 OMIM:300653 ORDO:713 UMLS_CUI:C1970848 GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency disease_ontology DOID:0111933 phosphoglycerate kinase 1 deficiency A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. url:https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency url:https://pubmed.ncbi.nlm.nih.gov/16567715/ url:https://pubmed.ncbi.nlm.nih.gov/4230542/ A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. GARD:11983 MESH:C585640 NCI:C187988 OMIM:615513 ORDO:397596 SNOMEDCT_US_2023_03_01:711480000 UMLS_CUI:C3714976 APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation disease_ontology DOID:0111936 immunodeficiency 14 A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. url:https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome url:https://pubmed.ncbi.nlm.nih.gov/24165795/ A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. NCI:C176808 OMIM:615758 ORDO:280142 UMLS_CUI:C4014233 IMD22 SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency severe combined immunodeficiency due to LCK deficiency severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency disease_ontology DOID:0111937 immunodeficiency 22 A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. url:https://pubmed.ncbi.nlm.nih.gov/9664084/ A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. GARD:10934 MESH:D000077428 NCI:C126349 OMIM:614172 ORDO:228423 DCML GATA2 deficiency IMD21 MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, B and NK lymphoid deficiency monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections disease_ontology DOID:0111947 immunodeficiency 21 A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. url:https://pubmed.ncbi.nlm.nih.gov/21242295/ url:https://pubmed.ncbi.nlm.nih.gov/21670465/ url:https://pubmed.ncbi.nlm.nih.gov/24227816/ A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. NCI:C176703 OMIM:616005 UMLS_CUI:C4014934 IMD36 activated phosphoinositide 3-kinase delta syndrome 2 disease_ontology DOID:0111949 immunodeficiency 36 A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. url:https://pubmed.ncbi.nlm.nih.gov/27221134/ A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. GARD:12653 NCI:C176799 OMIM:616433 ORDO:447737 SNOMEDCT_US_2023_03_01:1197479002 UMLS_CUI:C4225328 DOCK2 deficiency IMD40 disease_ontology DOID:0111951 immunodeficiency 40 A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. url:https://pubmed.ncbi.nlm.nih.gov/26083206/ A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. GARD:4331 NCI:C126339 OMIM:615816 ORDO:443811 SNOMEDCT_US_2023_03_01:1187623009 UMLS_CUI:C4014371 CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency disease_ontology DOID:0111953 immunodeficiency 23 A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. url:https://pubmed.ncbi.nlm.nih.gov/14981714/ url:https://pubmed.ncbi.nlm.nih.gov/24589341/ A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. NCI:C176630 OMIM:617638 UMLS_CUI:C4539957 IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis disease_ontology DOID:0111958 immunodeficiency 11B A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. url:https://pubmed.ncbi.nlm.nih.gov/28628108/ A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. NCI:C176795 OMIM:615966 ORDO:317425 UMLS_CUI:C4014833 IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency disease_ontology DOID:0111961 immunodeficiency 26 A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. url:https://pubmed.ncbi.nlm.nih.gov/19075392/ url:https://pubmed.ncbi.nlm.nih.gov/23722905/ A primary immunodeficiency disease that involves multiple components of the immune system. NCI:C27871 disease_ontology DOID:0111962 combined immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system. url:https://pubmed.ncbi.nlm.nih.gov/32048120/ An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. MESH:C566492 NCI:C123729 OMIM:609981 ORDO:75391 UMLS_CUI:C1864947 IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency disease_ontology DOID:0111967 immunodeficiency 54 An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. url:https://pubmed.ncbi.nlm.nih.gov/16532402/ url:https://pubmed.ncbi.nlm.nih.gov/22354167/ A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. NCI:C176800 OMIM:614891 ORDO:319552 UMLS_CUI:C4013949 IMD30 MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency disease_ontology DOID:0111990 immunodeficiency 30 A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/19084105/ url:https://pubmed.ncbi.nlm.nih.gov/9603732/ url:https://pubmed.ncbi.nlm.nih.gov/9603733/ A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. GARD:3981 MESH:C564539 NCI:C176818 OMIM:300299 ORDO:86788 SNOMEDCT_US_2023_03_01:718882006 UMLS_CUI:C1845987 SCNX XLN disease_ontology DOID:0112128 X-linked severe congenital neutropenia A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/11242115/ A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. GARD:4979 MESH:C564714 NCI:C188996 OMIM:300106 ORDO:93349 SNOMEDCT_US_2023_03_01:770603000 UMLS_CUI:C1848097 SEMD X-linked SEMDX disease_ontology DOID:0112150 X-linked spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/27236923/ url:https://pubmed.ncbi.nlm.nih.gov/8064814/ A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. GARD:8276 MESH:C535992 NCI:C84666 OMIM:278800 ORDO:1569 SNOMEDCT_US_2023_03_01:254201008 UMLS_CUI:C0265201 xeroderma pigmentosum with neurologic manifestation disease_ontology DOID:0112158 De Sanctis-Cacchione syndrome A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. url:https://pubmed.ncbi.nlm.nih.gov/10767341/ url:https://pubmed.ncbi.nlm.nih.gov/2168777/ url:https://pubmed.ncbi.nlm.nih.gov/28491977/ An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. ICD10CM:E22.8 MESH:D011629 NCI:C113217 ORDO:759 SNOMEDCT_US_2023_03_01:237816004 UMLS_CUI:C0342543 CPP gonadotropin-dependant precocious puberty disease_ontology DOID:0112308 central precocious puberty An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. url:https://pubmed.ncbi.nlm.nih.gov/23738509/ url:https://pubmed.ncbi.nlm.nih.gov/30086862/ An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM:389.1 MESH:D006319 NCI:C26739 SNOMEDCT_US_2023_03_01:60700002 UMLS_CUI:C0018784 High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss disease_ontology DOID:10003 sensorineural hearing loss MESH:D006319 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. url:https://medlineplus.gov/ency/article/003291.htm A thyroid gland cancer that has_material_basis_in lymphocytes. NCI:C5265 SNOMEDCT_US_2023_03_01:278051002 UMLS_CUI:C1336753 disease_ontology DOID:10011 thyroid lymphoma A thyroid gland cancer that has_material_basis_in lymphocytes. url:https://www.ncbi.nlm.nih.gov/books/NBK544282/ A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. ICD10CM:E31.23 ICD9CM:258.03 MESH:D018814 NCI:C3227 OMIM:162300 ORDO:247709 SNOMEDCT_US_2023_03_01:61530001 UMLS_CUI:C0025269 MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome disease_ontology DOID:10016 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2B A multiple endocrine neoplasia 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:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract A multiple endocrine neoplasia 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. GARD:3829 ICD10CM:E31.21 ICD9CM:258.01 MESH:D018761 NCI:C3225 OMIM:131100 ORDO:652 SNOMEDCT_US_2023_03_01:30664006 UMLS_CUI:C0025267 MEN type I Wermer syndrome Wermer's syndrome disease_ontology DOID:10017 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 1 A multiple endocrine neoplasia 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.nlm.nih.gov/medlineplus/ency/article/000398.htm url:https://www.ncbi.nlm.nih.gov/pubmed/25509899 An endometrial disease that is characterized by inflammation of the endometrium. MESH:D004716 NCI:C26764 SNOMEDCT_US_2023_03_01:155975003 UMLS_CUI:C0014179 disease_ontology DOID:1002 endometritis An endometrial disease that is characterized by inflammation of the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/7511354 A duodenum cancer that is located_in the ampulla of Vater. ICD10CM:C24.1 ICD9CM:156.2 NCI:C3536 SNOMEDCT_US_2023_03_01:93668007 UMLS_CUI:C0153454 malignant tumour of ampulla of vater disease_ontology DOID:10020 ampulla of Vater cancer A duodenum cancer that is located_in the ampulla of Vater. url:https://pubmed.ncbi.nlm.nih.gov/25485917/ A small intestine cancer that is located_in the beginning section of the small intestine. DOID:6072 ICD10CM:C17.0 ICD9CM:152.0 MESH:D004379 NCI:C4803 NCI:C9328 SNOMEDCT_US_2023_03_01:254570009 SNOMEDCT_US_2023_03_01:363403002 UMLS_CUI:C0153426 UMLS_CUI:C0541912 Duodenal cancer cancer of duodenum duodenal neoplasm disease_ontology DOID:10021 duodenum cancer A small intestine cancer that is located_in the beginning section of the small intestine. url:http://en.wikipedia.org/wiki/Duodenal_cancer A duodenal benign neoplasm that is located_in the ampulla of Vater. NCI:C4443 SNOMEDCT_US_2023_03_01:126858004 UMLS_CUI:C0345916 tumor of the ampulla of Vater disease_ontology DOID:10022 ampulla of Vater benign neoplasm A duodenal benign neoplasm that is located_in the ampulla of Vater. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/ A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. DOID:10025 ICD10CM:G43.1 ICD9CM:346.0 MESH:D020325 NCI:C117005 OMIM:609179 OMIM:609670 SNOMEDCT_US_2023_03_01:155047002 UMLS_CUI:C0154723 classic migraine disease_ontology DOID:10024 Xref MGI. migraine with aura 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 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. GARD:8730 ICD10CM:A52.11 ICD9CM:094.0 MESH:D013606 NCI:C35057 SNOMEDCT_US_2023_03_01:266134000 UMLS_CUI:C0039223 Posterior spinal sclerosis Tabes dorsalis - neurosyphilis disease_ontology DOID:10027 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. 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 A female reproductive system disease that is characterized by an infection of the female reproductive organs. ICD10CM:N73.9 ICD9CM:614.9 MESH:D000292 NCI:C3889 SNOMEDCT_US_2023_03_01:266648001 UMLS_CUI:C0242172 PID disease_ontology DOID:1003 pelvic inflammatory disease A female reproductive system disease that is characterized by an infection of the female reproductive organs. url:https://www.ncbi.nlm.nih.gov/pubmed/25992748 A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. ICD10CM:J98.2 ICD9CM:518.1 NCI:C34571 SNOMEDCT_US_2023_03_01:11211003 UMLS_CUI:C1370824 disease_ontology DOID:10030 pulmonary interstitial emphysema A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. url:https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us url:https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html A skin melanoma that arises from the upper or lower eyelid. NCI:C4358 SNOMEDCT_US_2023_03_01:231834005 UMLS_CUI:C0339116 disease_ontology DOID:10040 malignant eyelid melanoma A skin melanoma that arises from the upper or lower eyelid. url:https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. NCI:C4227 SNOMEDCT_US_2023_03_01:403922007 UMLS_CUI:C0334426 disease_ontology DOID:10044 balloon cell malignant melanoma A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/27984232/ A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. GARD:9961 NCI:C4225 SNOMEDCT_US_2023_03_01:2142002 UMLS_CUI:C0334424 nodular melanoma disease_ontology DOID:10047 nodular malignant melanoma 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/ A uterine disease that is located_in the endometrium. NCI:C3504 SNOMEDCT_US_2023_03_01:418632009 UMLS_CUI:C0151622 disease_ontology DOID:1005 endometrial disease A uterine disease that is located_in the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/25100707 A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. NCI:C4633 SNOMEDCT_US_2023_03_01:276751004 UMLS_CUI:C0349515 skin amelanotic malignant melanoma disease_ontology DOID:10054 skin amelanotic melanoma A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. url:https://dermnetnz.org/topics/amelanotic-melanoma/ A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. NCI:C4426 SNOMEDCT_US_2023_03_01:126696001 UMLS_CUI:C0345746 Subglottic tumor disease_ontology DOID:10069 subglottis benign neoplasm A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427 A laryngeal benign neoplasm that derives_from smooth muscle cells. NCI:C6027 UMLS_CUI:C1334370 disease_ontology DOID:10070 larynx leiomyoma A laryngeal benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/20737370 A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. NCI:C7742 SNOMEDCT_US_2023_03_01:269637007 UMLS_CUI:C0240164 Laryngeal Squamous Cell Papilloma disease_ontology DOID:10071 larynx squamous papilloma A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. url:https://www.ncbi.nlm.nih.gov/books/NBK562327/ 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. GARD:2787 ICD10CM:B71.0 ICD9CM:123.6 MESH:D006925 NCI:C84768 SNOMEDCT_US_2023_03_01:187153007 UMLS_CUI:C0020413 Hymenolepis infectious disease dwarf tapeworm infection disease_ontology DOID:10074 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. url:http://en.wikipedia.org/wiki/Hymenolepiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm 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. GARD:942 ICD10CM:B70.0 ICD9CM:123.4 MESH:D004169 NCI:C128391 SNOMEDCT_US_2023_03_01:187151009 UMLS_CUI:C0012561 Diphyllobothrium infection fish tapeworm disease_ontology DOID:10075 diphyllobothriasis MESH:D004169 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 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:14424 GARD:8194 ICD10CM:B69 ICD9CM:123.1 MESH:D003551 NCI:C34520 SNOMEDCT_US_2023_03_01:59051007 UMLS_CUI:C0010678 Pork tapeworm infection Tapeworm infection intestinal taenia solum Tapeworm infection pork intestinal taenia solium infection neurocysticercosis tenia solium infectious disease disease_ontology DOID:10079 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. url:http://en.wikipedia.org/wiki/Cysticercosis 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. ICD10CM:B70.1 ICD9CM:123.5 MESH:D013031 NCI:C35030 SNOMEDCT_US_2023_03_01:187152002 UMLS_CUI:C0037753 Infection by Sparganum disease_ontology DOID:10080 sparganosis MESH:D013031 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 A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCI:C3876 SNOMEDCT_US_2023_03_01:276812001 UMLS_CUI:C0238440 leiomyoma of the stomach disease_ontology DOID:10087 gastric leiomyoma A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. url:https://radiopaedia.org/articles/gastric-leiomyoma?lang=us A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. ICD9CM:324.0 NCI:C34734 SNOMEDCT_US_2023_03_01:192738001 UMLS_CUI:C0021874 disease_ontology DOID:10095 intracranial abscess A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. url:https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm 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. GARD:7826 ICD10CM:B56 ICD9CM:086.5 KEGG:05143 MESH:D014353 NCI:C84541 ORDO:3385 SNOMEDCT_US_2023_03_01:27031003 UMLS_CUI:C0041228 African sleeping sickness African trypanosomiasis disease_ontology DOID:10112 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. 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/ An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. DOID:2284 ICD10CM:H18.9 ICD9CM:371.9 MESH:D003316 NCI:C26731 SNOMEDCT_US_2023_03_01:15250008 UMLS_CUI:C0010034 disease_ontology DOID:10124 corneal disease An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. GARD:6824 ICD10CM:H18.6 ICD9CM:371.6 MESH:D007640 NCI:C26806 OMIM:148300 OMIM:608586 OMIM:608932 OMIM:609271 OMIM:614622 OMIM:614623 OMIM:614628 OMIM:614629 ORDO:156071 SNOMEDCT_US_2023_03_01:267733008 UMLS_CUI:C0022578 conical cornea disease_ontology DOID:10126 Xref MGI. keratoconus 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 A vein disease that is characterized by impaired flow of blood through the veins. ICD9CM:459.81 MESH:D014689 NCI:C127822 SNOMEDCT_US_2023_03_01:20696009 UMLS_CUI:C0042485 peripheral venous insufficiency disease_ontology DOID:10128 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 A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. ICD10CM:F52.5 ICD9CM:306.51 NCI:C35113 SNOMEDCT_US_2023_03_01:71787009 UMLS_CUI:C0042266 Functional vaginismus Non-organic vaginismus Psychogenic Vaginismus disease_ontology DOID:10131 psychologic vaginismus A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. url:https://my.clevelandclinic.org/health/diseases/15723-vaginismus url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113 A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. ICD10CM:E50.7 ICD9CM:375.15 MESH:D014985 NCI:C34503 SNOMEDCT_US_2023_03_01:193887002 UMLS_CUI:C0043349 Conjunctival xerosis disease_ontology DOID:10138 xerophthalmia A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. url:https://www.nature.com/articles/eye201417 url:https://www.ncbi.nlm.nih.gov/books/NBK431094/ A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. ICD10CM:H04.12 MESH:D015352 NCI:C34553 SNOMEDCT_US_2023_03_01:193980001 UMLS_CUI:C0013238 Tear film insufficiency dry eye disease disease_ontology DOID:10140 dry eye syndrome MESH:D015352 A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. url:https://pubmed.ncbi.nlm.nih.gov/29498987/ A thymus cancer that arises from the thymus. NCI:C6451 UMLS_CUI:C1336745 disease_ontology DOID:10146 thymus lymphoma A thymus cancer that arises from the thymus. url:https://pubmed.ncbi.nlm.nih.gov/12063471/ An intestinal cancer that is located_in the small intestine. GARD:9385 ICD10CM:C17 ICD9CM:152.9 NCI:C7523 SNOMEDCT_US_2023_03_01:363509000 UMLS_CUI:C0153425 disease_ontology DOID:10154 small intestine cancer An intestinal cancer that is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine A gastrointestinal system cancer that is located_in the intestine. ICD10CM:C26.0 ICD9CM:159.0 MESH:D007414 NCI:C4572 SNOMEDCT_US_2023_03_01:93838000 UMLS_CUI:C0346627 malignant intestinal tumors malignant neoplasm of intestine disease_ontology DOID:10155 intestinal cancer A gastrointestinal system cancer that is located_in the intestine. url:http://en.wikipedia.org/wiki/Intestine A small intestine benign neoplasm that affects the wall of the ileum. MESH:D007078 NCI:C3130 SNOMEDCT_US_2023_03_01:254576003 UMLS_CUI:C0020876 Ileal tumor disease_ontology DOID:10156 NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS] benign ileal neoplasm A small intestine benign neoplasm that affects the wall of the ileum. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130 An ischemic bone disease that results_in necrosis located_in bone. 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 MESH:D010020 NCI:C34404 NCI:C34841 NCI:C34880 NCI:C35226 NCI:C35517 SNOMEDCT_US_2023_03_01:156837008 SNOMEDCT_US_2023_03_01:17926002 SNOMEDCT_US_2023_03_01:240196003 SNOMEDCT_US_2023_03_01:29281007 SNOMEDCT_US_2023_03_01:43453000 SNOMEDCT_US_2023_03_01:62100001 SNOMEDCT_US_2023_03_01:83453001 UMLS_CUI:C0003977 UMLS_CUI:C0027543 UMLS_CUI:C0029445 UMLS_CUI:C0158442 UMLS_CUI:C0158449 UMLS_CUI:C0158450 UMLS_CUI:C0158451 UMLS_CUI:C0745048 Avascular necrosis of bone aseptic necrosis bone necrosis disease_ontology DOID:10159 osteonecrosis 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 An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. ICD10CM:H35.81 ICD10CM:H47.1 ICD10CM:H47.11 ICD9CM:362.83 ICD9CM:377.0 ICD9CM:377.01 MESH:D010211 NCI:C3307 SNOMEDCT_US_2023_03_01:3170006 SNOMEDCT_US_2023_03_01:423488006 SNOMEDCT_US_2023_03_01:6141006 UMLS_CUI:C0030353 UMLS_CUI:C0155288 UMLS_CUI:C0242420 UMLS_CUI:C0919308 papillitis disease_ontology DOID:10175 optic papillitis An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. url:https://en.wikipedia.org/wiki/Optic_papillitis A lipoma that is located within the lumen of a bronchus. NCI:C5063 UMLS_CUI:C0852937 disease_ontology DOID:10183 endobronchial lipoma A lipoma that is located within the lumen of a bronchus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/ A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. ICDO:8857/0 NCI:C4254 SNOMEDCT_US_2023_03_01:27313007 UMLS_CUI:C0334474 disease_ontology DOID:10184 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 A lipoma located in the esophagus. NCI:C5701 UMLS_CUI:C1333455 Lipoma of esophagus disease_ontology DOID:10187 esophageal lipoma A lipoma located in the esophagus. url:https://radiopaedia.org/articles/oesophageal-lipoma?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/ A skin benign neoplasm that derives_from fat cells. DOID:10198 DOID:3943 ICD9CM:214.0 NCI:C4616 NCI:C5566 SNOMEDCT_US_2023_03_01:255187008 SNOMEDCT_US_2023_03_01:93159009 UMLS_CUI:C0153968 UMLS_CUI:C0347394 UMLS_CUI:C1333174 Cutaneous Lipoma Lipoma of skin cutaneous lipomatous tumor lipoma of face disease_ontology DOID:10188 skin lipoma A skin benign neoplasm that derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23600336 A lipoma located in the liver. NCI:C5750 UMLS_CUI:C1333970 Lipoma of the Liver hepatic lipoma disease_ontology DOID:10190 liver lipoma A lipoma located in the liver. url:https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us A lipoma that is characterized by floret giant cells with overlapping nuclei. ICDO:8854/0 MESH:D008067 NCI:C3703 SNOMEDCT_US_2023_03_01:189783001 UMLS_CUI:C0205823 disease_ontology DOID:10192 pleomorphic lipoma A lipoma that is characterized by floret giant cells with overlapping nuclei. url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. NCI:C27530 UMLS_CUI:C1333059 classic type lipoma disease_ontology DOID:10193 conventional lipoma A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. url:https://pubmed.ncbi.nlm.nih.gov/26857660/ A lipoma that is located in the kidney. NCI:C5101 UMLS_CUI:C1335744 Lipoma of kidney disease_ontology DOID:10194 kidney lipoma A lipoma that is located in the kidney. url:https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470 A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. NCI:C6644 SNOMEDCT_US_2023_03_01:2460001000004103 UMLS_CUI:C1335434 Lipoma of Pleura disease_ontology DOID:10195 pleural lipoma A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. url:https://www.ncbi.nlm.nih.gov/pubmed/29222220 A breast benign neoplasm that is composed of lipocytes. NCI:C4647 SNOMEDCT_US_2023_03_01:276891009 UMLS_CUI:C0349565 Lipoma of breast disease_ontology DOID:10199 breast lipoma A breast benign neoplasm that is composed of lipocytes. url:https://en.wikipedia.org/wiki/Benign_tumor A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. NCI:C6719 SNOMEDCT_US_2023_03_01:448270009 UMLS_CUI:C1332932 Lipoma of the Chest Wall disease_ontology DOID:10200 chest wall lipoma A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. url:https://www.ncbi.nlm.nih.gov/pubmed/23919840 A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. NCI:C5835 UMLS_CUI:C1333747 Lipoma of the gallbladder disease_ontology DOID:10201 gallbladder lipoma A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. url:https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1 An auditory system benign neoplasm that is located in the external ear. NCI:C4618 SNOMEDCT_US_2023_03_01:188988008 UMLS_CUI:C0347423 Lipoma of external auditory meatus Lipoma of the External ear external auditory meatus lipoma disease_ontology DOID:10203 external ear lipoma An auditory system benign neoplasm that is located in the external ear. url:https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. NCI:C35419 SNOMEDCT_US_2023_03_01:188993006 UMLS_CUI:C0347429 Lipoma of axilla disease_ontology DOID:10205 axillary lipoma An thoracic benign neoplasm that is 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 A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. ICD9CM:214.4 NCI:C3606 SNOMEDCT_US_2023_03_01:93162007 UMLS_CUI:C0153972 Spermatic Cord Lipoma disease_ontology DOID:10206 lipoma of spermatic cord A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/ A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. NCI:C6384 UMLS_CUI:C1335348 disease_ontology DOID:10207 paratesticular lipoma A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. url:https://pubmed.ncbi.nlm.nih.gov/11103506/ A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. ICDO:8862/0 NCI:C6503 SNOMEDCT_US_2023_03_01:404065000 UMLS_CUI:C1266131 disease_ontology DOID:10208 chondroid lipoma 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 A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. NCI:C5854 UMLS_CUI:C1333509 Lipoma of the extrahepatic bile duct disease_ontology DOID:10209 extrahepatic bile duct lipoma A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer 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:10490 DOID:1813 DOID:3573 GARD:7397 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 MESH:D010874 NCI:C85011 SNOMEDCT_US_2023_03_01:22064009 SNOMEDCT_US_2023_03_01:240685007 SNOMEDCT_US_2023_03_01:4669001 SNOMEDCT_US_2023_03_01:68202005 SNOMEDCT_US_2023_03_01:73594001 UMLS_CUI:C0031946 UMLS_CUI:C0153241 UMLS_CUI:C0153242 UMLS_CUI:C0153243 UMLS_CUI:C0153244 disease_ontology DOID:1022 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. url:https://www.ncbi.nlm.nih.gov/pubmed/26304920 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. GARD:6263 ICD10CM:M33 ICD9CM:710.3 MESH:D003882 NCI:C26744 SNOMEDCT_US_2023_03_01:38826005 UMLS_CUI:C0011633 Polymyositis with skin involvement dermatopolymyositis disease_ontology Amyopathic dermatomyositis DOID:10223 MESH:C538250 added from NeuroDevNet [WAK]. 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. url:http://en.wikipedia.org/wiki/Dermatomyositis url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis Amyopathic dermatomyositis MESH:C538250 A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. ICD10CM:F65.2 ICD9CM:302.4 MESH:D005084 NCI:C94352 SNOMEDCT_US_2023_03_01:192514003 UMLS_CUI:C0015269 disease_ontology DOID:10236 exhibitionism A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. url:https://www.britannica.com/topic/exhibitionism 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. EFO:0001054 GARD:6886 ICD10CM:A30 ICD9CM:030 MESH:D007918 NCI:C84824 OMIM:607572 OMIM:609888 OMIM:613407 ORDO:548 SNOMEDCT_US_2023_03_01:154298007 UMLS_CUI:C0023343 disease_ontology DOID:1024 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Leprosy A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. DOID:12242 DOID:12243 GARD:7756 ICD10CM:D56 ICD9CM:282.4 MESH:D013789 NCI:C35069 SNOMEDCT_US_2023_03_01:191192008 UMLS_CUI:C0039730 Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis disease_ontology DOID:10241 OMIM mapping confirmed by DO. [LS]. thalassemia A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. url:https://www.genome.gov/Genetic-Disorders/Thalassemia url:https://www.ncbi.nlm.nih.gov/pubmed/11283697 An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. ICD10CM:H92.1 ICD9CM:388.6 NCI:C35199 SNOMEDCT_US_2023_03_01:300132001 UMLS_CUI:C0155540 discharging ear disease_ontology DOID:10261 otorrhea An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. url:https://medlineplus.gov/ency/article/003042.htm A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, 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. GARD:7116 ICD10CM:B26 ICD9CM:072 MESH:D009107 NCI:C29888 SNOMEDCT_US_2023_03_01:154352008 UMLS_CUI:C0026780 disease_ontology DOID:10264 mumps A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, 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 A male reproductive organ cancer that is located_in the prostate. DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 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 ORDO:1331 SNOMEDCT_US_2023_03_01:126906006 SNOMEDCT_US_2023_03_01:93974005 UMLS_CUI:C0033578 UMLS_CUI:C0376358 NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate disease_ontology DOID:10283 Xref MGI. OMIM mapping confirmed by DO. [SN]. prostate cancer A male reproductive organ cancer that is located_in the prostate. url:http://www.cancer.gov/dictionary?CdrID=445079 url:https://www.genome.gov/Genetic-Disorders/Prostate-Cancer A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0001663 KEGG:05215 NCI:C4863 SNOMEDCT_US_2023_03_01:254900004 UMLS_CUI:C0600139 cancer of prostate carcinoma of prostate disease_ontology DOID:10286 prostate carcinoma A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A squamous cell carcinoma that is located_in the prostate. NCI:C5536 SNOMEDCT_US_2023_03_01:399590005 UMLS_CUI:C1302530 disease_ontology DOID:10287 prostate squamous cell carcinoma A squamous cell carcinoma that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pubmed/23877521 A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. MESH:C549759 NCI:C5531 UMLS_CUI:C1334615 malignant Phyllodes neoplasm of the prostate disease_ontology DOID:10289 prostate malignant phyllodes tumor A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. url:https://www.hindawi.com/journals/jo/2009/241270/ A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. GARD:6422 ICD10CM:G72.3 MESH:D010245 NCI:C84709 SNOMEDCT_US_2023_03_01:193241004 UMLS_CUI:C0030443 disease_ontology DOID:1029 familial periodic paralysis A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html url:https://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page A prostate cancer that affects lymphocytes and arises from the prostate gland. NCI:C5533 UMLS_CUI:C1335512 lymphoma of prostate disease_ontology DOID:10290 prostate lymphoma A prostate cancer that affects lymphocytes and arises from the prostate gland. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/ A parotid disease characterized by the inflammation of one or both parotid glands. ICD10CM:K11.2 MESH:D010309 NCI:C114281 SNOMEDCT_US_2023_03_01:196481002 UMLS_CUI:C0030583 disease_ontology DOID:10301 parotitis MESH:D010309 A parotid disease characterized by the inflammation of one or both parotid glands. url:http://en.wikipedia.org/wiki/Parotitis A salivary gland disease that is characterized as an infection of the salivary glands. GARD:7638 ICD10CM:K11.2 ICD9CM:527.2 MESH:D012793 NCI:C26882 SNOMEDCT_US_2023_03_01:42982001 UMLS_CUI:C0037023 Sialoadenitis disease_ontology DOID:10303 sialadenitis A salivary gland disease that is characterized as an infection of the salivary glands. url:https://rarediseases.info.nih.gov/diseases/7638/sialadenitis A meningitis that has_material_basis_in a viral infection. ICD10CM:A87 ICD9CM:047.9 MESH:D008587 NCI:C118298 SNOMEDCT_US_2023_03_01:154321007 UMLS_CUI:C0025297 disease_ontology DOID:10310 viral meningitis A meningitis that has_material_basis_in a viral infection. url:https://en.wikipedia.org/wiki/Viral_meningitis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. DOID:14058 ICD10CM:I33.9 ICD9CM:421.9 MESH:D004696 NCI:C34582 NCI:C35432 SNOMEDCT_US_2023_03_01:56819008 SNOMEDCT_US_2023_03_01:91357005 UMLS_CUI:C0014118 UMLS_CUI:C0375268 disease_ontology DOID:10314 endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. url:http://en.wikipedia.org/wiki/Endocarditis url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ An interstitial lung disease that is caused by the inhalation of dust. ICD10CM:J64 ICD9CM:505 MESH:D011009 NCI:C26861 SNOMEDCT_US_2023_03_01:196004000 UMLS_CUI:C0032273 disease_ontology DOID:10316 pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust. url:http://en.wikipedia.org/wiki/Pneumoconiosis A pneumoconiosis caused by the inhalation of mixed mineral dust particles. NCI:C27559 SNOMEDCT_US_2023_03_01:233759002 UMLS_CUI:C0340184 disease_ontology DOID:10319 mixed mineral dust pneumoconiosis A pneumoconiosis caused by the inhalation of mixed mineral dust particles. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/ A pneumoconiosis caused by inhalation and retention of asbestos fibers. GARD:5852 ICD10CM:J61 ICD9CM:501 MESH:D001195 NCI:C84573 SNOMEDCT_US_2023_03_01:266400008 UMLS_CUI:C0003949 disease_ontology DOID:10320 asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers. url:http://en.wikipedia.org/wiki/Asbestosis A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. GARD:8371 MESH:C537080 NCI:C34410 SNOMEDCT_US_2023_03_01:50076003 UMLS_CUI:C0340177 disease_ontology DOID:10321 baritosis A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. url:https://rarediseases.info.nih.gov/diseases/8371/baritosis A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. GARD:5976 ICD10CM:J66.0 MESH:D002095 NCI:C84605 SNOMEDCT_US_2023_03_01:155589004 UMLS_CUI:C0006542 Flax-dressers' disease Stripper's asthma cotton mill fever disease_ontology DOID:10323 byssinosis A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/ A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. ICD10CM:J60 MESH:D000874 NCI:C34389 SNOMEDCT_US_2023_03_01:33548005 UMLS_CUI:C0003164 disease_ontology DOID:10324 anthracosilicosis A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/ 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:14007 GARD:7647 ICD10CM:J62.8 ICD9CM:502 MESH:D012829 NCI:C3369 SNOMEDCT_US_2023_03_01:155590008 UMLS_CUI:C0037116 Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis disease_ontology DOID:10325 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. url:http://en.wikipedia.org/wiki/Silicosis ls:IEDB A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. ICD10CM:J60 ICD9CM:500 MESH:D055008 NCI:C34390 SNOMEDCT_US_2023_03_01:29422001 UMLS_CUI:C0003165 Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung disease_ontology DOID:10327 anthracosis A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/ A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. ICD10CM:J62.0 NCI:C27026 SNOMEDCT_US_2023_03_01:73144008 UMLS_CUI:C0238377 pneumoconiosis due to talc talc pneumoconiosis talcosis disease_ontology DOID:10329 pulmonary talcosis A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. url:https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26 url:https://pubmed.ncbi.nlm.nih.gov/34390717/ url:https://pubmed.ncbi.nlm.nih.gov/34401315/ url:https://radiopaedia.org/articles/talcosis-1 A pneumoconiosis that is caused by exposure to slate dust. NCI:C35397 SNOMEDCT_US_2023_03_01:1259003 UMLS_CUI:C0340186 Schistosis disease_ontology DOID:10330 slate pneumoconiosis A pneumoconiosis that is caused by exposure to slate dust. url:https://academic.oup.com/occmed/article/67/1/20/2420658 url:https://pubmed.ncbi.nlm.nih.gov/7426466/ A pneumoconiosis that is caused by inhalation of kaolin dust. GARD:8355 NCI:C35315 SNOMEDCT_US_2023_03_01:36696005 UMLS_CUI:C0264435 Kaolinosis disease_ontology DOID:10331 kaolin pneumoconiosis A pneumoconiosis that is caused by inhalation of kaolin dust. url:https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. ICD10CM:N60.0 ICD9CM:610.0 NCI:C3378 SNOMEDCT_US_2023_03_01:270538000 UMLS_CUI:C0037619 Solitary Cyst of the breast disease_ontology DOID:10349 solitary cyst of breast A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. url:https://www.ncbi.nlm.nih.gov/pubmed/14223874 A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. ICD10CM:C94.8 ICDO:9948/3 NCI:C8647 SNOMEDCT_US_2023_03_01:128833001 UMLS_CUI:C1292777 aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia disease_ontology DOID:1035 aggressive NK-cell leukemia A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. url:https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/ A breast benign neoplasm that is characterized by a fluid-filled sac. ICD10CM:N60.0 MESH:D047688 NCI:C5315 SNOMEDCT_US_2023_03_01:56726003 UMLS_CUI:C0006144 Cyst of the breast disease_ontology DOID:10350 breast cyst A breast benign neoplasm that is characterized by a fluid-filled sac. url:https://en.wikipedia.org/wiki/Breast_cyst A non-proliferative fibrocystic change of the breast that contains scar tissue. ICD10CM:N60.3 ICD9CM:610.3 NCI:C3660 SNOMEDCT_US_2023_03_01:29070004 UMLS_CUI:C0156318 Fibrosis of the breast disease_ontology DOID:10353 fibrosclerosis of breast A non-proliferative fibrocystic change of the breast that contains scar tissue. url:https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. ICD10CM:N60.1 ICD9CM:610.1 MESH:D005348 NCI:C3039 SNOMEDCT_US_2023_03_01:198091009 UMLS_CUI:C0016034 Diffuse cystic mastopathy Fibrocystic disease of breast breast Fibrocystic Change disease_ontology DOID:10354 breast fibrocystic disease A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/3511705 A leukemia that develops slowly. NCI:C3483 disease_ontology CLL CML adult chronic leukemia DOID:1036 chronic leukemia A leukemia that develops slowly. url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. ICD9CM:322.1 NCI:C128374 SNOMEDCT_US_2023_03_01:25671008 UMLS_CUI:C0154652 disease_ontology DOID:10361 eosinophilic meningitis A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. url:https://pubmed.ncbi.nlm.nih.gov/31972289/ A male reproductive organ cancer that is located in the epididymis. ICD10CM:C63.0 ICD9CM:187.5 NCI:C3558 SNOMEDCT_US_2023_03_01:363452003 UMLS_CUI:C0153602 malignant Epididymal tumor malignant neoplasm of epididymis malignant tumor of epididymis disease_ontology DOID:10366 epididymis cancer A male reproductive organ cancer that is located in the epididymis. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/ An epididymis cancer that derives_from epithelial cells of glandular origin. NCI:C39957 UMLS_CUI:C1510784 disease_ontology adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma An epididymis cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. DOID:10747 ICD10CM:C91 ICD9CM:204 ICDO:9820/3 MESH:D007945 NCI:C7539 SNOMEDCT_US_2023_03_01:93170002 UMLS_CUI:C0023448 lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia disease_ontology DOID:1037 lymphoid leukemia A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. url:http://www.cancer.gov/dictionary?CdrID=616067 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. GARD:7913 ICD10CM:A66 ICD9CM:102 MESH:D015001 NCI:C41353 SNOMEDCT_US_2023_03_01:266213004 UMLS_CUI:C0043388 Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis disease_ontology DOID:10371 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. url:http://en.wikipedia.org/wiki/Yaws url:http://www.who.int/mediacentre/factsheets/fs316/en/ An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. ICD10CM:H53.00 ICD9CM:368.00 MESH:D000550 NCI:C118764 SNOMEDCT_US_2023_03_01:155145007 UMLS_CUI:C0002418 lazy eye disease_ontology DOID:10376 amblyopia MESH:D000550 An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. url:https://en.wikipedia.org/wiki/Amblyopia url:https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. ICDO:9832/3 MESH:D015463 NCI:C3181 SNOMEDCT_US_2023_03_01:110006004 UMLS_CUI:C0023486 PLL Prolymphocytic leukaemia disease_ontology DOID:1039 prolymphocytic leukemia A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. url:https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. ICD10CM:A49.9 MESH:D001424 NCI:C2890 SNOMEDCT_US_2023_03_01:87628006 UMLS_CUI:C0004623 disease_ontology DOID:104 bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. url:http://en.wikipedia.org/wiki/Pathogenic_bacteria A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. EFO:0000095 GARD:6104 ICD10CM:C91.10 ICD9CM:204.1 MESH:D015451 NCI:C3163 OMIM:109543 OMIM:151400 OMIM:609630 OMIM:612557 OMIM:612558 OMIM:612559 ORDO:67038 SNOMEDCT_US_2023_03_01:51092000 UMLS_CUI:C0023434 B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia disease_ontology B-cell chronic lymphoid leukemia DOID:1040 Xref MGI. chronic lymphocytic leukemia A lymphocytic 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 ICD9CM:523.33 NCI:C34354 SNOMEDCT_US_2023_03_01:155646007 UMLS_CUI:C0001342 acute periodontitis disease_ontology DOID:10423 acute pericementitis A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. DOID:14747 GARD:10280 ICD10CM:Q76.1 ICD9CM:756.16 MESH:D007714 NCI:C98967 OMIM:PS118100 ORDO:2345 SNOMEDCT_US_2023_03_01:268349005 UMLS_CUI:C0022738 Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae disease_ontology DOID:10426 Xref MGI. OMIM mapping confirmed by DO. [SN]. Klippel-Feil syndrome A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome ICD10CM:H20.05 ICD9CM:364.05 NCI:C50593 SNOMEDCT_US_2023_03_01:87807004 UMLS_CUI:C0020641 disease_ontology DOID:10443 hypopyon An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. DOID:10454 DOID:13751 ICD10CM:J35.01 ICD9CM:474.00 MESH:D014069 NCI:C116006 SNOMEDCT_US_2023_03_01:195665006 SNOMEDCT_US_2023_03_01:195794009 UMLS_CUI:C0040425 UMLS_CUI:C0149517 Throat infection - tonsillitis chronic tonsillitis disease_ontology DOID:10456 tonsillitis An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. url:http://en.wikipedia.org/wiki/Tonsillitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. ICD10CM:A48.1 ICD9CM:482.84 MESH:D007877 NCI:C128339 SNOMEDCT_US_2023_03_01:195889001 UMLS_CUI:C0023241 Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease disease_ontology DOID:10457 Legionnaires' disease 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 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. MESH:D007876 NCI:C128334 SNOMEDCT_US_2023_03_01:26726000 UMLS_CUI:C0023240 Legionella infection disease_ontology DOID:10458 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. url:http://en.wikipedia.org/wiki/Legionellosis url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm 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. ICD10CM:J00 ICD9CM:460 MESH:D003139 NCI:C34500 SNOMEDCT_US_2023_03_01:195648002 UMLS_CUI:C0009443 Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis disease_ontology DOID:10459 common cold 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 A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. DOID:11587 ICD10CM:J00 ICD10CM:J31.1 ICD9CM:472.2 MESH:D009304 NCI:C34837 SNOMEDCT_US_2023_03_01:155524006 SNOMEDCT_US_2023_03_01:51476001 UMLS_CUI:C0027441 UMLS_CUI:C0155826 chronic nasopharyngitis disease_ontology DOID:10460 nasopharyngitis 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 ICD10CM:Q79.1 MESH:D003965 NCI:C98912 SNOMEDCT_US_2023_03_01:34168003 UMLS_CUI:C0011981 disease_ontology DOID:10480 diaphragmatic eventration GARD:6381 ICD10CM:Q39.0 MESH:D004933 NCI:C87072 SNOMEDCT_US_2023_03_01:156947007 UMLS_CUI:C0014850 Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia disease_ontology DOID:10485 esophageal atresia ICD10CM:Q41.1 MESH:D007409 NCI:C84790 UMLS_CUI:C0021828 disease_ontology DOID:10486 intestinal atresia A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. GARD:6660 ICD10CM:Q43.1 MESH:D006627 NCI:C34700 OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 ORDO:388 SNOMEDCT_US_2023_03_01:204739008 UMLS_CUI:C0019569 Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis disease_ontology DOID:10487 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. 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 url:https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease GARD:6769 ICD10CM:Q42.3 MESH:D001006 NCI:C84784 OMIM:207500 OMIM:301800 SNOMEDCT_US_2023_03_01:156956004 UMLS_CUI:C0003466 Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia disease_ontology DOID:10488 OMIM mapping confirmed by DO. [SN]. imperforate anus ICD9CM:255.4 NCI:C26691 SNOMEDCT_US_2023_03_01:68588005 UMLS_CUI:C0405580 Adrenal Cortical Insufficiency Corticoadrenal insufficiency disease_ontology DOID:10493 adrenal cortical hypofunction ICD10CM:H05.11 ICD9CM:376.11 NCI:C3653 SNOMEDCT_US_2023_03_01:194008000 UMLS_CUI:C0155262 disease_ontology DOID:10499 orbital granuloma A gastrointestinal system cancer that is located_in the stomach. DOID:10539 DOID:10542 DOID:10543 DOID:4713 GARD:7704 ICD10CM:C16 ICD10CM:C16.2 ICD10CM:C16.5 ICD10CM:C16.6 ICD9CM:151 ICD9CM:151.4 ICD9CM:151.5 ICD9CM:151.6 MESH:D013274 NCI:C3387 NCI:C9331 OMIM:613659 SNOMEDCT_US_2023_03_01:126824007 SNOMEDCT_US_2023_03_01:269459004 SNOMEDCT_US_2023_03_01:269460009 SNOMEDCT_US_2023_03_01:93717002 SNOMEDCT_US_2023_03_01:94074003 UMLS_CUI:C0024623 UMLS_CUI:C0038356 UMLS_CUI:C0153421 UMLS_CUI:C0153422 UMLS_CUI:C0153423 gastric cancer gastric neoplasm disease_ontology DOID:10534 OMIM mapping confirmed by DO. [SN]. stomach cancer 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 NCI:C5484 UMLS_CUI:C1334585 malignant gastric granular cell tumour malignant granular cell tumor of stomach malignant granular cell tumour of stomach disease_ontology DOID:10536 malignant gastric granular cell tumor GARD:6485 NCI:C4636 SNOMEDCT_US_2023_03_01:276811008 UMLS_CUI:C0349532 Lymphoma of the stomach disease_ontology DOID:10540 gastric lymphoma NCI:C27131 SNOMEDCT_US_2023_03_01:276809004 UMLS_CUI:C0349530 Surface gastric cancer early gastric cancer disease_ontology DOID:10541 microinvasive gastric cancer ICD10CM:C16.4 ICD9CM:151.1 NCI:C188051 SNOMEDCT_US_2023_03_01:187736009 UMLS_CUI:C0153418 Ca pylorus - stomach malignant neoplasm of Prepylorus malignant neoplasm of pylorus of stomach malignant tumor of pylorus disease_ontology DOID:10544 pylorus cancer A central nervous system disease that involves encephalitis which occurs along with meningitis. ICD10CM:A69.22 MESH:D008590 NCI:C34813 SNOMEDCT_US_2023_03_01:7125002 UMLS_CUI:C0025309 disease_ontology DOID:10554 meningoencephalitis A central nervous system disease that involves encephalitis which occurs along with meningitis. url:http://en.wikipedia.org/wiki/Encephalitis A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. GARD:3295 ICD10CM:E72.03 MEDDRA:10051707 MESH:D009800 NCI:C84940 OMIM:309000 ORDO:534 SNOMEDCT_US_2023_03_01:79385002 UMLS_CUI:C0028860 Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe disease_ontology DOID:1056 OMIM mapping confirmed by DO. [SN]. oculocerebrorenal syndrome A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. url:https://ghr.nlm.nih.gov/condition/lowe-syndrome url:https://www.omim.org/entry/309000 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 ICD10CM:A66.1 ICD10CM:A66.4 ICD9CM:102.1 ICD9CM:102.4 NCI:C41354 SNOMEDCT_US_2023_03_01:186968004 UMLS_CUI:C0153234 UMLS_CUI:C0276007 UMLS_CUI:C1517744 Gummata and ulcers due to yaws Gummata of yaws Ulcers of yaws Yaws gummata and ulcers gummatous frambeside multiple papillomata due to yaws and wet crab yaws nodular late yaws disease_ontology DOID:10567 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. url:https://www.who.int/neglected_diseases/diseases/yaws/en/ 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 ICD10CM:A66.0 ICD10CM:A66.6 ICD9CM:102.0 ICD9CM:102.6 NCI:C41352 SNOMEDCT_US_2023_03_01:23191004 SNOMEDCT_US_2023_03_01:266147005 SNOMEDCT_US_2023_03_01:49442000 UMLS_CUI:C0275990 UMLS_CUI:C0275998 UMLS_CUI:C0343834 Frambesia, initial or primary Initial frambesial ulcer Initial lesions of yaws bone and joint lesions due to yaws bone and joint yaws lesion chancre of yaws primary frambesia disease_ontology DOID:10568 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. url:http://www.who.int/mediacentre/factsheets/fs316/en/ A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. GARD:7285 ICD9CM:268.2 NCI:C26838 SNOMEDCT_US_2023_03_01:190639009 UMLS_CUI:C0029442 disease_ontology DOID:10573 osteomalacia MESH:D010018 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.wheelessonline.com/ortho/osteomalacia A cerebral degeneration characterized by dysfunction of the white matter of the brain. GARD:6895 ICD9CM:330.0 NCI:C61253 SNOMEDCT_US_2023_03_01:5101009 UMLS_CUI:C0023520 disease_ontology DOID:10579 leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain. url:http://en.wikipedia.org/wiki/Leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. GARD:3230 ICD10CM:E75.25 MESH:D007966 NCI:C61251 OMIM:249900 OMIM:250100 ORDO:512 SNOMEDCT_US_2023_03_01:3621006 UMLS_CUI:C0023522 MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis disease_ontology DOID:10581 Xref MGI. OMIM mapping confirmed by DO. [SN]. metachromatic leukodystrophy 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 A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. GARD:5691 ICD10CM:G60.1 ICD9CM:356.3 MESH:D012035 NCI:C85043 OMIM:266500 ORDO:773 SNOMEDCT_US_2023_03_01:25362006 UMLS_CUI:C0034960 HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency disease_ontology DOID:10582 OMIM mapping confirmed by DO. [SN]. Refsum disease A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. url:https://en.wikipedia.org/wiki/Refsum_disease url:https://medlineplus.gov/genetics/condition/refsum-disease/ url:https://pubmed.ncbi.nlm.nih.gov/30578512/ url:https://rarediseases.org/rare-diseases/refsum-disease/ 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:14742 GARD:5694 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:PS268000 ORDO:791 SNOMEDCT_US_2023_03_01:155113002 UMLS_CUI:C0035334 UMLS_CUI:C0220701 pericentral pigmentary retinopathy disease_ontology DOID:10584 Xref MGI. OMIM mapping confirmed by DO. [LS]. 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. 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/ url:https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa GARD:6844 ICD10CM:E75.23 MESH:D007965 NCI:C61254 OMIM:245200 SNOMEDCT_US_2023_03_01:192782005 UMLS_CUI:C0023521 Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy disease_ontology DOID:10587 OMIM mapping confirmed by DO. [SN]. Krabbe disease 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. DOID:13451 ICD10CM:E71.52 MESH:D000326 NCI:C61252 OMIM:300100 SNOMEDCT_US_2023_03_01:65389002 UMLS_CUI:C0162309 ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis disease_ontology DOID:10588 MESH:D000326w added from NeuroDevNet [WAK]. adrenoleukodystrophy MESH:D000326 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:https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy 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. NCI:C84392 SNOMEDCT_US_2023_03_01:1855002 UMLS_CUI:C0025362 disease_ontology mental retardation DOID:1059 OMIM mapping submitted by NeuroDevNet. [LS]. 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. url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU url:https://en.wikipedia.org/wiki/Intellectual_disability 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:12684 ICD10CM:O14 MESH:D011225 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 SNOMEDCT_US_2023_03_01:6758009 UMLS_CUI:C0032914 gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy disease_ontology DOID:10591 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Pre-eclampsia url:http://ghr.nlm.nih.gov/condition/preeclampsia url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. GARD:6034 ICD10CM:G60.0 ICD9CM:356.1 MESH:D002607 NCI:C75467 OMIM:PS118220 SNOMEDCT_US_2023_03_01:193158000 UMLS_CUI:C0007959 CMT - Charcot-Marie-Tooth disease disease_ontology DOID:10595 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. url:https://www.genome.gov/11009201 url:https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease 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:12624 ICD10CM:A15.6 ICD9CM:010.1 ICD9CM:012.0 MESH:D014396 NCI:C26898 SNOMEDCT_US_2023_03_01:186172004 SNOMEDCT_US_2023_03_01:68706009 UMLS_CUI:C0041326 UMLS_CUI:C0152531 Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis disease_ontology DOID:106 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. url:https://www.ncbi.nlm.nih.gov/pubmed/17426219 An amino acid metabolic disorder that is 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. GARD:6569 ICD10CM:E72.02 MESH:D006250 NCI:C84748 OMIM:234500 SNOMEDCT_US_2023_03_01:80902009 UMLS_CUI:C0018609 Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect disease_ontology DOID:1060 OMIM mapping confirmed by DO. [SN]. Hartnup disease An amino acid metabolic disorder that is 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 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. ICD10CM:F95.1 ICD9CM:307.22 MESH:D013981 NCI:C116768 SNOMEDCT_US_2023_03_01:192623005 UMLS_CUI:C0008701 chronic motor or vocal tic disorder disease_ontology DOID:10600 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. url:http://en.wikipedia.org/wiki/Tic_disorder ICD10CM:R73.03 MESH:D018149 NCI:C34646 SNOMEDCT_US_2023_03_01:267426009 UMLS_CUI:C0271650 Glucose malabsorption Malabsorption of glucose disease_ontology DOID:10603 glucose intolerance A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. ICD10CM:E73 MESH:D007787 NCI:C3154 OMIM:223100 SNOMEDCT_US_2023_03_01:267497007 UMLS_CUI:C0022951 LM - Lactose malabsorption disease_ontology DOID:10604 OMIM mapping confirmed by DO. [SN]. lactose intolerance MESH:D007787 A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. url:https://medlineplus.gov/genetics/condition/lactose-intolerance/ An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. MESH:D012778 NCI:C99059 SNOMEDCT_US_2023_03_01:204768009 UMLS_CUI:C0036992 acquired short bowel syndrome short gut syndrome disease_ontology DOID:10605 short bowel syndrome An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. url:https://rarediseases.org/rare-diseases/short-bowel-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. ICD10CM:K90.2 ICD9CM:579.2 MESH:D001765 NCI:C34431 SNOMEDCT_US_2023_03_01:77225009 UMLS_CUI:C0005750 Bacterial overgrowth syndrome disease_ontology DOID:10606 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. url:https://en.wikipedia.org/wiki/Blind_loop_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20572300 GARD:7824 ICD10CM:K90.1 ICD9CM:579.1 MESH:D013182 NCI:C45428 SNOMEDCT_US_2023_03_01:155846005 UMLS_CUI:C0038054 Sprue - tropical Tropical steatorrhea disease_ontology DOID:10607 tropical sprue 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. EFO:0001060 GARD:11998 ICD10CM:K90.0 ICD9CM:579.0 MESH:D002446 NCI:C26714 OMIM:607202 OMIM:609754 OMIM:611598 OMIM:612005 OMIM:612006 OMIM:612007 OMIM:612008 OMIM:612009 OMIM:612011 ORDO:555 SNOMEDCT_US_2023_03_01:197477005 UMLS_CUI:C0007570 celiac sprue coeliac disease idiopathic steatorrhea disease_ontology DOID:10608 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 url:https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease 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:11672 GARD:5700 ICD10CM:E55.0 MESH:D012279 NCI:C26878 SNOMEDCT_US_2023_03_01:190639009 UMLS_CUI:C0035579 active rickets disease_ontology DOID:10609 Xref MGI. rickets MESH:D012279 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://en.wikipedia.org/wiki/Rickets url:http://www.mayoclinic.com/health/rickets/DS00813 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 url:https://www.ncbi.nlm.nih.gov/pubmed/26365554 A cervicitis that is characterized by onset within the past 1 - 3 days. NCI:C27056 SNOMEDCT_US_2023_03_01:19272000 UMLS_CUI:C0269061 disease_ontology DOID:10616 acute cervicitis A cervicitis that is characterized by onset within the past 1 - 3 days. url:https://www.ncbi.nlm.nih.gov/pubmed/23606387 A lymphatic system cancer that is located_in the lymph node. DOID:10438 GARD:6932 NCI:C35497 SNOMEDCT_US_2023_03_01:127232002 UMLS_CUI:C0596869 lymph node neoplasm disease_ontology DOID:10619 lymph node cancer A lymphatic system cancer that is located_in the lymph node. url:http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. DOID:5956 GARD:9118 MESH:D005198 NCI:C3034 NCI:C4377 OMIM:PS134600 ORDO:3337 SNOMEDCT_US_2023_03_01:236468006 SNOMEDCT_US_2023_03_01:40488004 UMLS_CUI:C0015624 UMLS_CUI:C0341703 Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome disease_ontology DOID:1062 Xref MGI. OMIM mapping confirmed by DO. [SN]. Fanconi syndrome MESH:D005198 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 An eye disease where one or both eyeballs are abnormally small. DOID:10650 GARD:12085 ICD10CM:Q11.2 ICD9CM:743.1 MESH:D008850 NCI:C98989 SNOMEDCT_US_2023_03_01:156902006 UMLS_CUI:C0026010 microphthalmos simple microphthalmos disease_ontology DOID:10629 Xref MGI. OMIM mapping confirmed by DO. [SN]. microphthalmia 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 ICD10CM:N12 MESH:D009395 NCI:C26834 SNOMEDCT_US_2023_03_01:28689008 UMLS_CUI:C0027707 renal tubulo-interstitial disease disease_ontology DOID:1063 interstitial nephritis A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. GARD:7898 MESH:D014929 NCI:C35133 ORDO:3463 SNOMEDCT_US_2023_03_01:70694009 UMLS_CUI:C0043207 WFS disease_ontology DOID:10632 OMIM mapping confirmed by DO. [LS]. Wolfram syndrome A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. url:http://en.wikipedia.org/wiki/Wolfram_syndrome A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. GARD:6236 MESH:D003554 NCI:C129932 OMIM:219750 OMIM:219800 OMIM:219900 ORDO:213 SNOMEDCT_US_2023_03_01:62332007 UMLS_CUI:C2931187 cystine storage disease disease_ontology DOID:1064 cystinosis A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. url:http://ghr.nlm.nih.gov/condition/cystinosis url:https://en.wikipedia.org/wiki/Cystinosis url:https://www.ncbi.nlm.nih.gov/pubmed/12110740 A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. ICD10CM:F21 ICD9CM:301.22 MESH:D012569 NCI:C92632 SNOMEDCT_US_2023_03_01:231486008 UMLS_CUI:C0036363 disease_ontology DOID:10646 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. url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and 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. GARD:10254 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 SNOMEDCT_US_2023_03_01:73768007 UMLS_CUI:C0002395 Alzheimer disease Alzheimers dementia disease_ontology DOID:10652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Alzheimer's disease A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and 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. 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 ls:IEDB NCI:C5493 UMLS_CUI:C0940607 Colonic Lipoma disease_ontology DOID:10655 lipoma of colon NCI:C5492 UMLS_CUI:C1333092 Colonic leiomyoma disease_ontology DOID:10656 colon leiomyoma NCI:C5500 UMLS_CUI:C1333094 Lymphangioma of colon disease_ontology DOID:10657 colonic lymphangioma A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. NCI:C6628 UMLS_CUI:C1334673 neuroblastoma of mediastinum disease_ontology DOID:10660 mediastinum neuroblastoma A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. url:http://www.cancer.gov/dictionary?CdrID=45418 NCI:C6627 UMLS_CUI:C1334653 Ganglioneuroblastoma of mediastinum disease_ontology DOID:10661 mediastinum ganglioneuroblastoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. EFO:0004190 ICD10CM:H40.1 ICD9CM:365.1 MESH:D005902 NCI:C34641 OMIM:137750 OMIM:177700 OMIM:602429 OMIM:603383 OMIM:606689 OMIM:608695 OMIM:608696 OMIM:609745 OMIM:609887 OMIM:610535 OMIM:611274 OMIM:611276 OMIM:613100 SNOMEDCT_US_2023_03_01:84494001 UMLS_CUI:C0017612 Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma disease_ontology DOID:1067 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Glaucoma url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. ICD10CM:N64.89 ICD9CM:611.5 MESH:C535998 NCI:C3515 SNOMEDCT_US_2023_03_01:42385006 UMLS_CUI:C0152243 Galactocele disease_ontology DOID:10686 lactocele A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. url:https://en.wikipedia.org/wiki/Galactocele A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. ICD10CM:N62 ICD9CM:611.1 NCI:C3125 SNOMEDCT_US_2023_03_01:43336006 UMLS_CUI:C0020565 breasts enlarged large breast disease_ontology DOID:10688 hypertrophy of breast A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. url:https://en.wikipedia.org/wiki/Breast_hypertrophy A breast disease characterized by painful infection of the breast tissue. MESH:D008413 NCI:C53662 SNOMEDCT_US_2023_03_01:155952005 UMLS_CUI:C0024894 Inflammatory breast disease Inflammatory disease of breast breast inflammation disease_ontology DOID:10690 mastitis A breast disease characterized by painful infection of the breast tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25940456 A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. ICD10CM:N64.1 ICD9CM:611.3 NCI:C3661 SNOMEDCT_US_2023_03_01:21381006 UMLS_CUI:C0156321 breast Fat necrosis disease_ontology DOID:10691 fat necrosis of breast A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html 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. GARD:9815 ICD10CM:B66.4 ICD9CM:121.2 MESH:D010237 NCI:C84995 SNOMEDCT_US_2023_03_01:30369007 UMLS_CUI:C0030424 Infection by Paragonimus lung fluke disease lung fluke infection pulmonary paragonimiasis disease_ontology DOID:10699 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 An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. ICD10CM:H40.11 ICD9CM:365.11 MESH:D005902 NCI:C35394 OMIM:137760 SNOMEDCT_US_2023_03_01:77075001 UMLS_CUI:C0339573 chronic simple glaucoma disease_ontology DOID:1070 OMIM mapping confirmed by DO. [SN]. primary open angle glaucoma An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ MESH:D006977 NCI:C3121 SNOMEDCT_US_2023_03_01:194775007 UMLS_CUI:C0020544 disease_ontology DOID:1073 renal hypertension A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. ICD10CM:N19 ICD9CM:586 MESH:D051437 NCI:C4376 SNOMEDCT_US_2023_03_01:42399005 UMLS_CUI:C0035078 renal failure disease_ontology DOID:1074 PRISM. kidney 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 A uterine adnexa cancer that is located_in the broad ligament. ICD10CM:C57.1 ICD9CM:183.3 NCI:C179934 SNOMEDCT_US_2023_03_01:93728003 UMLS_CUI:C0346866 malignant neoplasm of broad ligament of uterus disease_ontology DOID:10744 broad ligament malignant neoplasm A uterine adnexa cancer that is located_in the broad ligament. url:https://www.ncbi.nlm.nih.gov/pubmed/26140828 A otitis which involves inflammation of the middle ear. ICD10CM:H66.9 ICD9CM:382.9 MESH:D010033 NCI:C34885 SNOMEDCT_US_2023_03_01:65363002 UMLS_CUI:C0029882 disease_ontology DOID:10754 otitis media A otitis which involves inflammation of the middle ear. url:http://en.wikipedia.org/wiki/Otitis_media ICD10CM:N11 ICD9CM:590.0 NCI:C123216 SNOMEDCT_US_2023_03_01:123293005 UMLS_CUI:C0085697 disease_ontology DOID:1076 chronic pyelonephritis GARD:8229 ICD10CM:K76.6 ICD9CM:572.3 MESH:D006975 NCI:C3119 SNOMEDCT_US_2023_03_01:155821005 UMLS_CUI:C0020541 disease_ontology DOID:10762 portal hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 MESH:D006973 NCI:C3117 SNOMEDCT_US_2023_03_01:38341003 UMLS_CUI:C0020538 HTN hyperpiesia vascular hypertensive disorder disease_ontology hypertensive disease DOID:10763 hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. url:https://en.wikipedia.org/wiki/Hypertension url:https://www.ncbi.nlm.nih.gov/pubmed/24352797 GARD:9430 ICD10CM:M31.19 MESH:D011697 NCI:C78797 OMIM:274150 SNOMEDCT_US_2023_03_01:360402008 UMLS_CUI:C0034155 Moschcowitz's syndrome disease_ontology DOID:10772 thrombotic thrombocytopenic purpura A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. ICD10CM:D75.0 ICD9CM:289.6 NCI:C26955 OMIM:PS133100 SNOMEDCT_US_2023_03_01:267571003 UMLS_CUI:C0152264 Familiar Polycythemia familial erythrocytosis disease_ontology DOID:10780 primary polycythemia A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. url:https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia ICD10CM:I88.0 ICD9CM:289.2 MESH:D008640 NCI:C26830 SNOMEDCT_US_2023_03_01:191376006 UMLS_CUI:C0025469 Mesenteric adenitis disease_ontology DOID:10782 mesenteric lymphadenitis ICD10CM:D74 ICD9CM:289.7 MESH:D008708 NCI:C34817 SNOMEDCT_US_2023_03_01:191386007 UMLS_CUI:C0025637 disease_ontology DOID:10783 methemoglobinemia An ovarian dysfunction that is the loss of normal ovarian function before age 40. ICD10CM:E28.31 ICD9CM:256.31 MESH:D008594 NCI:C80099 SNOMEDCT_US_2023_03_01:154713003 UMLS_CUI:C0025322 Menopause - premature Menopause praecox disease_ontology DOID:10787 premature menopause An ovarian dysfunction that is the loss of normal ovarian function before age 40. url:https://www.ncbi.nlm.nih.gov/pubmed/26316242 A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. ICD10CM:J32.1 ICD9CM:473.1 NCI:C34473 SNOMEDCT_US_2023_03_01:155527004 UMLS_CUI:C0008683 disease_ontology DOID:10790 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. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html 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. ICD10CM:J32.1 MESH:D015522 NCI:C34626 SNOMEDCT_US_2023_03_01:275485006 UMLS_CUI:C0016735 disease_ontology DOID:10791 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. 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 A maxillary sinusitis which lasts for 12 weeks or more. ICD10CM:J32.0 ICD9CM:473.0 NCI:C34477 SNOMEDCT_US_2023_03_01:195785003 UMLS_CUI:C0008698 chronic antritis disease_ontology DOID:10792 chronic maxillary sinusitis 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 A sphenoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.3 ICD9CM:473.3 NCI:C34480 SNOMEDCT_US_2023_03_01:155528009 UMLS_CUI:C0008712 Sphenoidal sinus-chr. disease_ontology DOID:10793 chronic sphenoidal sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/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. ICD10CM:J32.3 MESH:D015524 NCI:C35031 SNOMEDCT_US_2023_03_01:13266007 UMLS_CUI:C0037886 Sphenoidal sinusitis disease_ontology DOID:10794 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. url:http://en.wikipedia.org/wiki/sinusitis A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. ICD10CM:B74 ICD9CM:125.9 MESH:D005368 NCI:C34611 SNOMEDCT_US_2023_03_01:50342004 UMLS_CUI:C0016085 disease due to superfamily Filarioidea disease_ontology DOID:1080 filariasis MESH:D005368 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 DOID:10807 DOID:10809 DOID:12047 DOID:12057 DOID:12068 DOID:12069 DOID:12806 DOID:13124 DOID:13125 DOID:241 DOID:242 ICD10CM:K25 ICD9CM:531 MESH:D013276 NCI:C3388 SNOMEDCT_US_2023_03_01:155681009 UMLS_CUI:C0038358 acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction 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 acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction 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 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 mention of hemorrhage or perforation, with obstruction disease_ontology DOID:10808 gastric ulcer 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. GARD:8216 ICD10CM:B74.4 MESH:D008368 NCI:C84882 SNOMEDCT_US_2023_03_01:240849009 UMLS_CUI:C0024759 disease_ontology DOID:1081 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. url:http://en.wikipedia.org/wiki/Mansonelliasis A respiratory system cancer that is located_in the nasal cavity. ICD10CM:C30.0 ICD9CM:160.0 NCI:C4918 SNOMEDCT_US_2023_03_01:93917007 UMLS_CUI:C0728864 malignant neoplasm of nasal cavities malignant tumor of the nasal cavity disease_ontology DOID:10811 nasal cavity cancer A respiratory system cancer that is located_in the nasal cavity. url:http://en.wikipedia.org/wiki/Nasal_cavity NCI:C7604 UMLS_CUI:C1334923 Olfactory neuroblastoma of the nasal cavity disease_ontology DOID:10812 nasal cavity olfactory neuroblastoma NCI:C6074 UMLS_CUI:C1334921 Lymphoma of the nasal cavity lymphoma of nasal cavity disease_ontology DOID:10813 nasal cavity lymphoma A duodenum cancer that derives_from epithelial cells of glandular origin. NCI:C7889 SNOMEDCT_US_2023_03_01:408644002 UMLS_CUI:C0278804 Duodenal adenocarcinoma disease_ontology DOID:10816 duodenum adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:F65.52 ICD9CM:302.84 MESH:D012448 NCI:C94358 SNOMEDCT_US_2023_03_01:59394009 UMLS_CUI:C0036913 disease_ontology DOID:10817 sexual sadism ICD9CM:401.0 NCI:C34802 SNOMEDCT_US_2023_03_01:78975002 UMLS_CUI:C0024588 Accelerated essential hypertension disease_ontology DOID:10823 malignant essential hypertension A hypertension that is characterized by rapid onset of extremely high blood pressure. MESH:D006974 NCI:C3118 SNOMEDCT_US_2023_03_01:155301003 UMLS_CUI:C0020540 disease_ontology DOID:10824 malignant hypertension A hypertension that is characterized by rapid onset of extremely high blood pressure. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118 A hypertension with no known cause. It is the most common type of hypertension. ICD10CM:I10 ICD9CM:401 MESH:D000075222 NCI:C3478 OMIM:145500 OMIM:603918 OMIM:604329 OMIM:607329 OMIM:608742 OMIM:610261 OMIM:610262 OMIM:610948 OMIM:611014 ORDO:243761 SNOMEDCT_US_2023_03_01:194757006 UMLS_CUI:C0085580 idiopathic hypertension primary hypertension disease_ontology DOID:10825 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential 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 ICD10CM:F65.3 ICD9CM:302.82 MESH:D014843 NCI:C94360 SNOMEDCT_US_2023_03_01:192515002 UMLS_CUI:C0042979 disease_ontology DOID:10834 voyeurism 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. GARD:7888 ICD10CM:A83.1 ICD9CM:062.1 MESH:D020241 NCI:C85227 SNOMEDCT_US_2023_03_01:47523006 UMLS_CUI:C0153064 disease_ontology WEE DOID:10843 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. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm 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. GARD:6797 ICD10CM:A83.0 ICD9CM:062.0 MESH:D004672 NCI:C34577 SNOMEDCT_US_2023_03_01:266194002 UMLS_CUI:C0014057 Japanese B encephalitis disease_ontology DOID:10844 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. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm ICD10CM:F65.51 ICD9CM:302.83 MESH:D008398 NCI:C94356 SNOMEDCT_US_2023_03_01:248104007 UMLS_CUI:C0036908 disease_ontology DOID:10849 sexual masochism A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. ICD9CM:758.2 MESH:D000073842 NCI:C101362 SNOMEDCT_US_2023_03_01:51500006 UMLS_CUI:C0152096 Complete trisomy 18 syndrome E3 Trisomy trisomy 18 disease_ontology DOID:1085 OMIM mapping confirmed by DO. [LS]. Edwards syndrome A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. url:https://ghr.nlm.nih.gov/condition/trisomy-18 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. NCI:C3655 SNOMEDCT_US_2023_03_01:28371001 UMLS_CUI:C0155492 Cholesterin granuloma Cholesterin granuloma of middle ear disease_ontology DOID:10852 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. 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 A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. GARD:9482 MESH:D020434 NCI:C27593 OMIM:100200 SNOMEDCT_US_2023_03_01:82373004 UMLS_CUI:C0271355 Abducens nerve weakness Lateral rectus muscle denervation paresis Lateral rectus muscle innervation disorder Sixth cranial nerve disorder Sixth nerve palsy VIth nerve Paralysis VIth nerve disorder abducens nerve disease abducens palsy disease_ontology DOID:10865 abducens nerve palsy A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. url:https://pubmed.ncbi.nlm.nih.gov/35356946/ url:https://www.aapos.org/glossary/sixth-nerve-palsy url:https://www.ncbi.nlm.nih.gov/books/NBK482177/ 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. EFO:0001365 ICD10CM:H35.30 ICD9CM:362.50 MESH:D008268 NCI:C84391 OMIM:PS603075 SNOMEDCT_US_2023_03_01:18222007 UMLS_CUI:C0242383 Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration disease_ontology DOID:10871 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Macular_degeneration 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. ICD10CM:B08.4 ICD9CM:074.3 MESH:D006232 NCI:C128439 SNOMEDCT_US_2023_03_01:175497008 UMLS_CUI:C0018572 Vesicular stomatitis and exanthem disease_ontology DOID:10881 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. url:http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm GARD:4018 SNOMEDCT_US_2023_03_01:282784007 UMLS_CUI:C0560648 spinal dysraphism disease_ontology DOID:1089 OMIM mapping confirmed by DO. [LS]. tethered spinal cord syndrome NCI:C99080 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. ICD10CM:Q54 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 SNOMEDCT_US_2023_03_01:156968008 UMLS_CUI:C0848558 familial hypospadias disease_ontology DOID:10892 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. GARD:3603 GARD:7038 ICD10CM:Q02 ICD9CM:742.1 MESH:D008831 NCI:C85874 SNOMEDCT_US_2023_03_01:156893009 UMLS_CUI:C0025958 Microcephalus microencephaly disease_ontology DOID:10907 OMIM mapping confirmed by DO. [SN]. microcephaly MESH:D008831 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. url:https://en.wikipedia.org/wiki/Microcephaly A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. GARD:6682 ICD10CM:G91 MESH:D006849 NCI:C3111 OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219 ORDO:2182 ORDO:2185 SNOMEDCT_US_2023_03_01:267687006 UMLS_CUI:C0020255 hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive disease_ontology DOID:10908 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 ICD9CM:401.1 NCI:C3656 SNOMEDCT_US_2023_03_01:194758001 UMLS_CUI:C0155583 disease_ontology DOID:10913 benign essential hypertension 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. DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 MESH:D000647 NCI:C2867 SNOMEDCT_US_2023_03_01:247606008 SNOMEDCT_US_2023_03_01:3298001 UMLS_CUI:C0002622 UMLS_CUI:C0002625 Amnestic syndrome Korsakoff's psychosis or syndrome amnesia disease_ontology DOID:10914 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. url:http://en.wikipedia.org/wiki/Amnesia url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. MESH:D020915 NCI:C35764 OMIM:277730 SNOMEDCT_US_2023_03_01:69482004 UMLS_CUI:C0349464 Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis disease_ontology DOID:10915 OMIM mapping confirmed by DO. [LS]. Wernicke-Korsakoff syndrome A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. url:https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. DOID:12924 DOID:13024 GARD:8614 ICD10CM:D57.1 ICD10CM:D57.2 ICD9CM:282.6 ICD9CM:282.63 MESH:D000755 MESH:D006450 NCI:C34383 NCI:C34676 OMIM:603903 ORDO:232 SNOMEDCT_US_2023_03_01:154798006 SNOMEDCT_US_2023_03_01:35434009 UMLS_CUI:C0002895 UMLS_CUI:C0019034 Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia disease_ontology DOID:10923 OMIM mapping confirmed by DO. [LS]. sickle cell anemia A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. url:https://en.wikipedia.org/wiki/Sickle_cell_disease url:https://ghr.nlm.nih.gov/condition/sickle-cell-disease url:https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. ICD10CM:F60.3 ICD9CM:301.83 MESH:D001883 NCI:C92633 SNOMEDCT_US_2023_03_01:20010003 UMLS_CUI:C0006012 disease_ontology DOID:10930 borderline personality disorder 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 A personality disorder that is characterized by a pervasive psychological dependence on other people. ICD10CM:F60.7 ICD9CM:301.6 MESH:D003859 NCI:C92637 SNOMEDCT_US_2023_03_01:192492003 UMLS_CUI:C0011548 disease_ontology DOID:10931 dependent personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. url:http://en.wikipedia.org/wiki/Dependent_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. ICD10CM:F60.5 ICD9CM:301.4 MESH:D003193 NCI:C92638 SNOMEDCT_US_2023_03_01:191761001 UMLS_CUI:C0009595 OCPD disease_ontology Anankastic personality disorder DOID:10932 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. url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_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). ICD10CM:F42 ICD9CM:300.3 MESH:D009771 NCI:C88411 SNOMEDCT_US_2023_03_01:71478004 UMLS_CUI:C0028768 Anancastic neurosis obsessive compulsive disorder disease_ontology DOID:10933 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:https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. ICD10CM:F44.81 ICD9CM:300.14 MESH:D009105 NCI:C94330 SNOMEDCT_US_2023_03_01:31611000 UMLS_CUI:C0026773 Dissociative identity disorder disease_ontology DOID:10934 multiple personality disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). DOID:4963 ICD10CM:F44.9 ICD10CM:F48.9 ICD9CM:300.15 ICD9CM:300.9 MESH:D004213 NCI:C92197 SNOMEDCT_US_2023_03_01:154883004 UMLS_CUI:C0012746 UMLS_CUI:C0041857 dissociative disease dissociative reaction disease_ontology DOID:10935 dissociative disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). url:https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215 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. ICD10CM:F60.1 ICD9CM:301.2 MESH:D012557 NCI:C92631 SNOMEDCT_US_2023_03_01:192486009 UMLS_CUI:C0036339 disease_ontology DOID:10936 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. url:http://en.wikipedia.org/wiki/Schizoid_personality_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. ICD10CM:F63.9 ICD9CM:312.30 MESH:D007174 NCI:C34723 SNOMEDCT_US_2023_03_01:192098008 UMLS_CUI:C0021122 disease_ontology DOID:10937 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. url:https://en.wikipedia.org/wiki/Impulse_control_disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. ICD10CM:F60.0 ICD9CM:301.0 MESH:D010260 NCI:C92630 SNOMEDCT_US_2023_03_01:270529002 UMLS_CUI:C0030477 disease_ontology DOID:10938 paranoid personality disorder 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 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. ICD10CM:F60.2 ICD9CM:301.7 MESH:D000987 NCI:C88413 SNOMEDCT_US_2023_03_01:191769004 UMLS_CUI:C0003431 Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality disease_ontology DOID:10939 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. url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder EFO:0003870 MESH:D002532 NCI:C34458 SNOMEDCT_US_2023_03_01:128609009 UMLS_CUI:C0007766 brain aneurysm disease_ontology DOID:10941 intracranial aneurysm A mouth disease located_in the tongue. ICD10CM:K14 ICD9CM:529.9 MESH:D014060 NCI:C173793 SNOMEDCT_US_2023_03_01:69244009 UMLS_CUI:C0040409 disease_ontology DOID:10944 tongue disease A mouth disease located_in the tongue. url:https://medlineplus.gov/tonguedisorders.html A kidney disease that is characterized by an inflammation of the kidneys. ICD10CM:N08 MESH:D009393 NCI:C26833 SNOMEDCT_US_2023_03_01:52845002 UMLS_CUI:C0027697 disease_ontology DOID:10952 nephritis A kidney disease that is characterized by an inflammation of the kidneys. url:https://en.wikipedia.org/wiki/Nephritis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. DOID:0050008 GARD:8195 ICD10CM:B78 ICD9CM:127.2 MESH:D013322 NCI:C128398 SNOMEDCT_US_2023_03_01:1214006 UMLS_CUI:C0038463 Infection by Strongyloides disseminated strongyloidiasis disease_ontology DOID:10955 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 DOID:11433 ICD10CM:H71 ICD9CM:385.3 ICD9CM:385.32 MESH:D018424 NCI:C3654 SNOMEDCT_US_2023_03_01:39911004 SNOMEDCT_US_2023_03_01:87688009 UMLS_CUI:C0008374 UMLS_CUI:C0155490 Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma disease_ontology DOID:10964 cholesteatoma of middle ear 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:3778 ICD10CM:G80.1 ICD9CM:343.0 MESH:D002547 NCI:C34781 SNOMEDCT_US_2023_03_01:1178005 SNOMEDCT_US_2023_03_01:275469001 UMLS_CUI:C0023882 UMLS_CUI:C0154695 Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy disease_ontology DOID:10965 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. url:https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy ICD10CM:N04 MESH:D009402 NCI:C34844 SNOMEDCT_US_2023_03_01:197592009 UMLS_CUI:C0027721 Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome disease_ontology DOID:10966 lipoid nephrosis ICD10CM:N70 ICD9CM:614.2 NCI:C171201 SNOMEDCT_US_2023_03_01:46536000 UMLS_CUI:C0036133 Salpingitis/oophoritis Tubo-ovarian inflammatory disease disease_ontology DOID:10972 salpingo-oophoritis ICD10CM:N70.01 NCI:C40120 SNOMEDCT_US_2023_03_01:8912009 UMLS_CUI:C0269038 disease_ontology DOID:10973 acute salpingitis EFO:0004254 ICD10CM:N03.2 MESH:D015433 NCI:C34645 SNOMEDCT_US_2023_03_01:197710000 UMLS_CUI:C0017665 membranous nephropathy disease_ontology DOID:10976 membranous glomerulonephritis ICD10CM:P55 ICD9CM:773 MESH:D004899 NCI:C101304 SNOMEDCT_US_2023_03_01:111468003 UMLS_CUI:C0014761 EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn disease_ontology DOID:1098 fetal erythroblastosis ICD10CM:H11.41 ICD9CM:372.74 NCI:C35116 SNOMEDCT_US_2023_03_01:74100001 UMLS_CUI:C0042370 Conjunctival vascular abnormality vascular abnormalities of conjunctiva disease_ontology DOID:10989 conjunctival vascular disease A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. GARD:621 ICD10CM:D56.0 ICD9CM:282.43 MESH:D017085 NCI:C34368 OMIM:604131 SNOMEDCT_US_2023_03_01:191186002 UMLS_CUI:C0002312 Alpha thalassaemia alpha-Thalassemia disease_ontology DOID:1099 OMIM mapping confirmed by DO. [SN]. alpha thalassemia A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. url:http://en.wikipedia.org/wiki/Alpha_Thalassemia 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. GARD:8629 MESH:D004684 NCI:C84535 OMIM:606752 SNOMEDCT_US_2023_03_01:72986009 UMLS_CUI:C0014077 AHL Weston-Hurst syndrome acute haemorrhagic leucoencephalitis of Weston Hurst acute hemorrhagic encephalomyelitis acute necrotizing hemorrhagic leukoencephalitis disease_ontology DOID:10992 OMIM mapping confirmed by DO. [SN]. 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. 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 An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. ICD10CM:H27.9 MESH:D007905 NCI:C26812 SNOMEDCT_US_2023_03_01:194613002 UMLS_CUI:C0023308 disease_ontology DOID:110 lens disease An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. url:https://en.wikipedia.org/wiki/Lens_(anatomy) A female reproductive system disease that is located_in the ovary. MESH:D010049 NCI:C26841 SNOMEDCT_US_2023_03_01:5552004 UMLS_CUI:C0029928 disease_ontology DOID:1100 ovarian disease A female reproductive system disease that is located_in the ovary. url:https://medlineplus.gov/ovariandisorders.html ICD10CM:H11.15 ICD9CM:372.51 MESH:D059407 NCI:C129468 SNOMEDCT_US_2023_03_01:267735001 UMLS_CUI:C0152255 disease_ontology DOID:11029 pinguecula ICD10CM:H18.20 ICD9CM:371.2 MESH:D015715 NCI:C50508 SNOMEDCT_US_2023_03_01:193811006 UMLS_CUI:C0010037 Corneal oedema disease_ontology DOID:11030 corneal edema ICD10CM:H18.1 ICD9CM:371.23 NCI:C26970 SNOMEDCT_US_2023_03_01:193815002 UMLS_CUI:C0155111 disease_ontology DOID:11031 bullous keratopathy 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. ICD10CM:F44.0 ICD9CM:300.12 MESH:D000647 NCI:C94328 SNOMEDCT_US_2023_03_01:192420000 UMLS_CUI:C0236795 psychogenic amnesia disease_ontology DOID:11037 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. url:https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. GARD:6260 ICD9CM:300.6 MESH:D003861 NCI:C94331 SNOMEDCT_US_2023_03_01:70764005 UMLS_CUI:C0683416 Neurotic derealization disease_ontology DOID:11038 depersonalization disorder 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 A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. GARD:8234 ICD10CM:M05.0 ICD9CM:714.1 MESH:D005258 NCI:C84712 OMIM:134750 SNOMEDCT_US_2023_03_01:57160007 UMLS_CUI:C0015773 Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia disease_ontology DOID:11042 OMIM mapping confirmed by DO. [SN]. Felty's syndrome A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. url:http://en.wikipedia.org/wiki/Felty%27s_syndrome url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm GARD:8661 ICD10CM:Q79.3 ICD9CM:756.73 MESH:D020139 NCI:C84725 OMIM:230750 SNOMEDCT_US_2023_03_01:72951007 UMLS_CUI:C0265706 disease_ontology DOID:11044 OMIM mapping confirmed by DO. [SN]. gastroschisis A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. GARD:10494 ICD10CM:P24.01 MESH:D008471 NCI:C87093 SNOMEDCT_US_2023_03_01:85779008 UMLS_CUI:C0025048 Neonatal aspiration of meconium meconium aspiration disease_ontology DOID:11049 meconium aspiration syndrome A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. url:https://pubmed.ncbi.nlm.nih.gov/27206687/ An urinary system cancer that results_in malignant growth located_in the urinary bladder. DOID:5428 GARD:12210 ICD10CM:C67 ICD9CM:188 KEGG:05219 MESH:D001749 NCI:C2901 NCI:C9334 OMIM:109800 SNOMEDCT_US_2023_03_01:126885006 SNOMEDCT_US_2023_03_01:363455001 UMLS_CUI:C0005684 UMLS_CUI:C0005695 bladder cancer tumor of the bladder disease_ontology DOID:11054 OMIM mapping confirmed by DO. [SN]. urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. url:http://en.wikipedia.org/wiki/Bladder_cancer NCI:C5687 UMLS_CUI:C1333459 Lymphoma of esophagus Lymphoma of oesophagus oesophagus lymphoma disease_ontology DOID:1106 esophagus lymphoma A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. ICD10CM:O44 MESH:D010923 NCI:C26858 SNOMEDCT_US_2023_03_01:157059004 UMLS_CUI:C0032046 disease_ontology DOID:11060 placenta praevia 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 A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0002916 NCI:C3513 SNOMEDCT_US_2023_03_01:255079005 UMLS_CUI:C0152018 cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus disease_ontology DOID:1107 esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Esophageal_cancer 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. DOID:0050060 GARD:5966 ICD10CM:A23 ICD9CM:023 MESH:D002006 NCI:C84602 SNOMEDCT_US_2023_03_01:154296006 UMLS_CUI:C0006309 Maltese fever undulant fever disease_ontology Bang's disease Gibraltar fever Malta fever Mediterranean fever DOID:11077 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. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm NCI:C5707 UMLS_CUI:C1333460 melanoma of esophagus melanoma of oesophagus oesophagus melanoma disease_ontology DOID:1108 esophagus melanoma A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. ICD10CM:B87 ICD9CM:134.0 MESH:D009198 NCI:C128400 SNOMEDCT_US_2023_03_01:266225001 UMLS_CUI:C0027030 Infestation by fly larvae Infestation by maggots Maggot infestation disease_ontology DOID:11080 myiasis 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 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. GARD:7515 ICD10CM:A78 ICD9CM:083.0 MESH:D011778 NCI:C34970 SNOMEDCT_US_2023_03_01:266205000 UMLS_CUI:C0034362 Infection due to Coxiella burnetii disease_ontology DOID:11100 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. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.cdc.gov/qfever/symptoms/index.html url:https://www.ncbi.nlm.nih.gov/pubmed/15021054 A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. ICD10CM:A44 ICD9CM:088.0 MESH:D001474 NCI:C84586 SNOMEDCT_US_2023_03_01:17116008 UMLS_CUI:C0004771 Bartonella infectious disease Rochalimaea infection bartonelliasis disease_ontology DOID:11102 bartonellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. url:https://en.wikipedia.org/wiki/Bartonellosis ICD10CM:N13.30 ICD9CM:591 MESH:D006869 NCI:C26796 SNOMEDCT_US_2023_03_01:155866001 UMLS_CUI:C0020295 disease_ontology DOID:11111 hydronephrosis A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. EFO:0004895 GARD:7783 ICD10CM:F95.2 ICD9CM:307.23 MESH:D005879 NCI:C35078 OMIM:137580 SNOMEDCT_US_2023_03_01:5158005 UMLS_CUI:C0040517 Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder disease_ontology DOID:11119 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Tic_disorder url:http://en.wikipedia.org/wiki/Tourette%27s_disorder A dental pulp disease characterized by inflammation. ICD10CM:K04.0 ICD9CM:522.0 MESH:D011671 NCI:C52595 SNOMEDCT_US_2023_03_01:155638006 UMLS_CUI:C0034103 pulp stones disease_ontology DOID:11121 pulpitis A dental pulp disease characterized by inflammation. url:https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms url:https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. GARD:8204 ICD10CM:D69.0 ICD9CM:287.0 MESH:D011695 NCI:C34963 SNOMEDCT_US_2023_03_01:191306005 UMLS_CUI:C0034152 Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune disease_ontology DOID:11123 Henoch-Schoenlein purpura A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. url:https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura ICD10CM:I15 ICD9CM:405 NCI:C3657 SNOMEDCT_US_2023_03_01:155300002 UMLS_CUI:C0155616 disease_ontology DOID:11130 secondary hypertension An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. NCI:C5341 UMLS_CUI:C1333466 disease_ontology esophageal sarcoma DOID:1114 esophagus 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:https://www.ncbi.nlm.nih.gov/pubmed/1658495 MESH:D041761 NCI:C34443 SNOMEDCT_US_2023_03_01:235919008 UMLS_CUI:C0947622 disease_ontology DOID:11151 cholecystolithiasis A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. ICD10CM:L74.4 MESH:D007007 NCI:C34718 SNOMEDCT_US_2023_03_01:201189007 UMLS_CUI:C0020620 Oligohidrosis disease_ontology DOID:11155 hypohidrosis MESH:D007007 A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. url:https://en.wikipedia.org/wiki/Hypohidrosis A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. ICD10CM:L74.4 ICD9CM:705.0 MESH:D007007 NCI:C34385 OMIM:206600 SNOMEDCT_US_2023_03_01:201189007 UMLS_CUI:C0003028 Adiaphoresis absence of sweating disease_ontology DOID:11156 OMIM mapping confirmed by DO. [SN]. anhidrosis A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. url:https://en.wikipedia.org/wiki/Hypohidrosis url:https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat A lung disease characterized by inadequate gas exchange by the respiratory system. DOID:11391 DOID:11392 DOID:11393 ICD10CM:J96.0 ICD9CM:518.81 NCI:C27043 SNOMEDCT_US_2023_03_01:65710008 UMLS_CUI:C0264490 acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure disease_ontology DOID:11162 respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system. url:http://en.wikipedia.org/wiki/Respiratory_failure ICD10CM:H18.42 ICD9CM:371.43 MESH:C562399 NCI:C118765 OMIM:217500 SNOMEDCT_US_2023_03_01:35055000 UMLS_CUI:C0155120 Band-shaped keratopathy disease_ontology DOID:11164 OMIM mapping confirmed by DO. [SN]. band keratopathy A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. NCI:C5028 SNOMEDCT_US_2023_03_01:30285000 UMLS_CUI:C0043037 disease_ontology DOID:11165 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 is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. url:http://en.wikipedia.org/wiki/Wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or 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. DOID:7877 ICD10CM:A63.0 ICD9CM:078.11 MESH:D003218 NCI:C2960 NCI:C4820 SNOMEDCT_US_2023_03_01:240542006 SNOMEDCT_US_2023_03_01:302812006 UMLS_CUI:C0009663 UMLS_CUI:C0554632 Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart disease_ontology Condyloma acuminatum DOID:11168 anogenital venereal wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or 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 ICD10CM:H05.4 ICD9CM:376.5 MESH:D015841 NCI:C79552 SNOMEDCT_US_2023_03_01:267746003 UMLS_CUI:C0014306 disease_ontology DOID:11175 enophthalmos ICD10CM:K04.2 ICD9CM:522.2 NCI:C34962 SNOMEDCT_US_2023_03_01:22361007 UMLS_CUI:C0034100 disease_ontology DOID:11189 pulp degeneration 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. ICD10CM:H10.22 ICD9CM:372.04 NCI:C35196 SNOMEDCT_US_2023_03_01:267643002 UMLS_CUI:C0155144 disease_ontology DOID:11190 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:https://www.ncbi.nlm.nih.gov/pubmed/9400798 A synostosis that results_in the fusion of two or more digits. GARD:13181 ICD10CM:Q70 ICD9CM:755.1 MESH:D013576 NCI:C87125 ORDO:295012 ORDO:90025 ORDO:93403 SNOMEDCT_US_2023_03_01:156989004 UMLS_CUI:C0039075 symphalangism symphalangy webbing of digits disease_ontology DOID:11193 Xref MGI. syndactyly MESH:D013576 A synostosis that results_in the fusion of two or more digits. url:http://en.wikipedia.org/wiki/Syndactyly url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm url:http://www.wheelessonline.com/ortho/syndactyly A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. GARD:10299 ICD10CM:D82.1 ICD9CM:279.11 MESH:D004062 NCI:C2989 OMIM:188400 SNOMEDCT_US_2023_03_01:190991007 UMLS_CUI:C0012236 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome disease_ontology DOID:11198 OMIM mapping confirmed by DO. [SN]. DiGeorge syndrome A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome url:https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome 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. GARD:6733 ICD10CM:E20 ICD9CM:252.1 MESH:D007011 NCI:C78350 ORDO:2238 SNOMEDCT_US_2023_03_01:154697005 UMLS_CUI:C0020626 disease_ontology DOID:11199 Xref MGI. hypoparathyroidism MESH:D007011 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 DOID:111 DOID:13536 DOID:14031 GARD:6384 ICD10CM:I85.01 ICD9CM:456.0 ICD9CM:456.2 ICD9CM:456.20 NCI:C78282 SNOMEDCT_US_2023_03_01:195475003 SNOMEDCT_US_2023_03_01:195643006 SNOMEDCT_US_2023_03_01:236067006 UMLS_CUI:C0155789 UMLS_CUI:C0155791 UMLS_CUI:C0155792 Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding disease_ontology DOID:112 esophageal varix A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. DOID:613 NCI:C27145 NCI:C27872 SNOMEDCT_US_2023_03_01:402792003 UMLS_CUI:C1274233 UMLS_CUI:C1333147 T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency disease_ontology DOID:11200 T cell deficiency A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. url:https://en.wikipedia.org/wiki/T_cell_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/18755723 An endocrine system disease that is located_in the parathyroid gland. ICD10CM:E21.5 ICD9CM:252.9 MESH:D010279 NCI:C26844 SNOMEDCT_US_2023_03_01:73132005 UMLS_CUI:C0030517 disease of parathyroid glands disease_ontology DOID:11201 parathyroid gland disease An endocrine system disease that is located_in the parathyroid gland. url:http://en.wikipedia.org/wiki/Parathyroid_disease A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. DOID:14790 GARD:8612 ICD10CM:E21.0 ICD9CM:252.01 MESH:D049950 NCI:C48280 OMIM:600166 ORDO:99878 SNOMEDCT_US_2023_03_01:190452007 SNOMEDCT_US_2023_03_01:54920000 UMLS_CUI:C0221002 UMLS_CUI:C0271846 familial primary hyperparathyroidism disease_ontology DOID:11202 Xref MGI. primary hyperparathyroidism A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. url:https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/ ICD10CM:H10.1 ICD9CM:372.05 NCI:C34353 SNOMEDCT_US_2023_03_01:193863004 UMLS_CUI:C0001309 Angelucci syndrome acute atopic conjunctivitis disease_ontology DOID:11203 Angelucci's syndrome 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. MESH:D003233 NCI:C34506 SNOMEDCT_US_2023_03_01:231854006 UMLS_CUI:C0009766 disease_ontology DOID:11204 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. url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis ls:IEDB A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. ICD10CM:Q15.0 MESH:D006871 NCI:C50648 SNOMEDCT_US_2023_03_01:392368005 UMLS_CUI:C0020302 disease_ontology DOID:11212 hydrophthalmos A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. url:https://www.ncbi.nlm.nih.gov/books/NBK1135/ A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. NCI:C35704 SNOMEDCT_US_2023_03_01:240066005 UMLS_CUI:C1313983 Contagious opthalmia Pink eye Pinkeye disease_ontology DOID:11213 acute contagious conjunctivitis A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. url:https://www.aafp.org/afp/1998/0215/p735.html 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. ICD9CM:077.4 MESH:D003232 NCI:C34505 SNOMEDCT_US_2023_03_01:186677009 UMLS_CUI:C0009765 Apollo disease Epidemic hemorrhagic conjunctivitis disease_ontology viral conjunctivitis DOID:11227 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. url:https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. ICD10CM:H05.01 ICD9CM:376.01 MESH:D054517 NCI:C99000 SNOMEDCT_US_2023_03_01:194005002 UMLS_CUI:C0149507 disease_ontology DOID:11234 orbital cellulitis An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. url:https://en.wikipedia.org/wiki/Tenonitis A intestinal cancer that is located_in the appendix. ICD10CM:C18.1 ICD9CM:153.5 MESH:D001063 NCI:C9333 SNOMEDCT_US_2023_03_01:93679002 UMLS_CUI:C0496779 cancer of the appendix malignant neoplasm of appendix vermiformis malignant tumor of appendix malignant tumor of the appendix disease_ontology DOID:11239 appendix cancer A intestinal cancer that is located_in the appendix. url:http://en.wikipedia.org/wiki/Vermiform_appendix MESH:D001063 NCI:C4434 SNOMEDCT_US_2023_03_01:126846004 UMLS_CUI:C0003614 appendix neoplasm neoplasm of appendix disease_ontology DOID:11240 appendiceal neoplasm NCI:C5513 SNOMEDCT_US_2023_03_01:1153357001 UMLS_CUI:C1332328 Appendiceal Lymphoma disease_ontology DOID:11241 appendix lymphoma ICD10CM:P61.1 ICD9CM:776.4 NCI:C27069 SNOMEDCT_US_2023_03_01:32984002 UMLS_CUI:C0272153 Neonatal polycythemia disease_ontology DOID:11242 plethora of newborn ICD10CM:P61.2 ICD9CM:776.6 NCI:C97167 SNOMEDCT_US_2023_03_01:47100003 UMLS_CUI:C0158996 disease_ontology DOID:11243 anemia of prematurity ICD10CM:P60 ICD9CM:776.2 NCI:C111856 SNOMEDCT_US_2023_03_01:34417008 UMLS_CUI:C0158992 Disseminated intravascular coagulation in newborn disease_ontology DOID:11246 DIC in newborn ICD10CM:D65 ICD9CM:286.6 MESH:D004211 NCI:C2992 SNOMEDCT_US_2023_03_01:67406007 UMLS_CUI:C0012739 DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation disease_ontology DOID:11247 disseminated intravascular coagulation A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. ICD10CM:E56.1 ICD9CM:269.0 MESH:D014813 NCI:C99108 SNOMEDCT_US_2023_03_01:52675005 UMLS_CUI:C0042880 deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease disease_ontology DOID:11249 vitamin K deficiency bleeding A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. url:https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn url:https://medlineplus.gov/ency/article/007320.htm url:https://www.cdc.gov/ncbddd/vitamink/facts.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/ 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. DOID:11255 DOID:12353 GARD:7833 ICD10CM:A75.0 ICD10CM:A75.2 ICD10CM:A75.9 ICD9CM:080 ICD9CM:081.0 ICD9CM:081.9 MESH:D014437 MESH:D014438 NCI:C84688 NCI:C84689 SNOMEDCT_US_2023_03_01:154375001 SNOMEDCT_US_2023_03_01:25668000 SNOMEDCT_US_2023_03_01:39111003 UMLS_CUI:C0041471 UMLS_CUI:C0041472 UMLS_CUI:C0041473 Endemic Typhus fever Exanthematic Typhus fever Flea typhus Louse-borne [epidemic] typhus Moscow typhus Murine [endemic] typhus Typhus fever endemic flea-borne typhus epidemic louse-borne typhus disease_ontology Classical typhus Epidemic (louse-borne) typhus Epidemic louse-borne typhus fever due to Rickettsia prowazekii European typhus Exanthematous typhus Famine fever Flea-borne rickettsiosis Flea-borne typhus Hospital fever Jail fever Louse-borne rickettsiosis Louse-borne typhus Mexican typhus Murine typhus Petechial fever Prison fever Rat flea typhus Ship fever Shop typhus Typhus exanthematique Urban typhus DOID:11256 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:https://en.wikipedia.org/wiki/Typhus 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. ICD10CM:F40.1 ICD9CM:300.23 MESH:D000072861 NCI:C34927 SNOMEDCT_US_2023_03_01:192395002 UMLS_CUI:C0031572 disease_ontology DOID:11257 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. url:http://en.wikipedia.org/wiki/Social_phobia 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. ICD10CM:A28.1 ICD9CM:078.3 MESH:D002372 NCI:C84620 SNOMEDCT_US_2023_03_01:123319006 UMLS_CUI:C0007361 Debre's Syndrome Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever benign lymphoreticulosis cat scratch fever disease_ontology DOID:11258 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. url:http://en.wikipedia.org/wiki/Cat_scratch_disease url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# 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. GARD:7516 ICD10CM:A82 ICD9CM:071 MESH:D011818 NCI:C28182 SNOMEDCT_US_2023_03_01:14168008 UMLS_CUI:C0034494 Lyssa disease_ontology DOID:11260 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. url:http://en.wikipedia.org/wiki/Rabies url:https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies 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. ICD10CM:A70 ICD9CM:073 MESH:D009956 NCI:C34873 SNOMEDCT_US_2023_03_01:154369005 UMLS_CUI:C0029291 psittacosis disease_ontology DOID:11262 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. url:http://en.wikipedia.org/wiki/Psittacosis A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, 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 proteinuria, and has symptom renal failure. ICD10CM:A98.5 ICD9CM:078.6 MESH:D006480 NCI:C84753 SNOMEDCT_US_2023_03_01:186701001 UMLS_CUI:C0019101 HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy disease_ontology DOID:11266 Hantavirus hemorrhagic fever with renal syndrome A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, 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 proteinuria, and has symptom renal failure. 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 url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome ICD10CM:E05.2 ICD9CM:242.3 NCI:C35171 SNOMEDCT_US_2023_03_01:57777000 UMLS_CUI:C0342127 Plummer disease toxic nodular goiter disease_ontology DOID:11277 Plummer's disease MESH:D010899 NCI:C26853 SNOMEDCT_US_2023_03_01:237701005 UMLS_CUI:C0032001 disease_ontology DOID:1129 pituitary apoplexy A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. ICD10CM:I77.0 ICDO:9123/0 NCI:C2882 SNOMEDCT_US_2023_03_01:403966009 UMLS_CUI:C0334533 Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma disease_ontology DOID:11294 arteriovenous malformation A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. url:http://en.wikipedia.org/wiki/Arteriovenous_malformation NCI:C27117 SNOMEDCT_US_2023_03_01:95830009 UMLS_CUI:C0342405 Pituitary infarction disease_ontology DOID:1130 pituitary infarct 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. GARD:9747 ICD10CM:B65.3 ICD9CM:120.3 NCI:C34457 SNOMEDCT_US_2023_03_01:187115002 UMLS_CUI:C0546996 Cutaneous schistosomiasis Sea bather's eruption disease_ontology DOID:11302 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. url:https://en.wikipedia.org/wiki/Swimmer%27s_itch url:https://www.cdc.gov/parasites/swimmersitch/index.html ICD9CM:426.12 NCI:C62018 SNOMEDCT_US_2023_03_01:28189009 UMLS_CUI:C0155700 Mobitz (type) II atrioventricular block Mobitz II atrioventricular block disease_ontology DOID:11312 Mobitz type II atrioventricular block A psychotic disorder that involves schizophrenia symptoms over time period of one month. ICD10CM:F20.81 ICD9CM:295.4 MESH:D011618 NCI:C94376 SNOMEDCT_US_2023_03_01:88975006 UMLS_CUI:C0036358 disease_ontology DOID:11328 schizophreniform disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. url:http://en.wikipedia.org/wiki/Schizophreniform_disorder 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. GARD:9512 ICD10CM:L94.6 ICD9CM:136.0 MESH:D000387 NCI:C84544 OMIM:103400 SNOMEDCT_US_2023_03_01:51404004 UMLS_CUI:C0001860 Dactylolysis spontanea disease_ontology DOID:11329 OMIM mapping confirmed by DO. [SN]. ainhum MESH:D000387 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 A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. GARD:7607 ICD10CM:D86 ICD9CM:135 MESH:D012507 NCI:C34995 ORDO:797 SNOMEDCT_US_2023_03_01:154425004 UMLS_CUI:C0036202 Boeck sarcoid lymphogranulomatosis disease_ontology DOID:11335 sarcoidosis MESH:D012507 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 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. GARD:5144 ICD10CM:A35 ICD9CM:037 MESH:D013742 NCI:C85185 SNOMEDCT_US_2023_03_01:154312006 UMLS_CUI:C0039614 Infection due to Clostridium tetani clostridial tetanus disease_ontology DOID:11338 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. url:http://en.wikipedia.org/wiki/Tetanus 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. GARD:4386 ICD10CM:B59 ICD9CM:136.3 MESH:D011020 NCI:C3334 SNOMEDCT_US_2023_03_01:57541005 UMLS_CUI:C1535939 Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis disease_ontology DOID:11339 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. 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 DOID:1133 DOID:13280 DOID:13901 DOID:2405 ICD10CM:K06.0 ICD10CM:K06.01 ICD9CM:523.2 ICD9CM:523.24 MESH:D005889 NCI:C82068 SNOMEDCT_US_2023_03_01:155645006 SNOMEDCT_US_2023_03_01:59898000 UMLS_CUI:C0017572 UMLS_CUI:C0266916 Gingival recession, localized localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession disease_ontology DOID:1134 gingival recession An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. ICD10CM:H15 MESH:D015422 NCI:C79717 SNOMEDCT_US_2023_03_01:33064008 UMLS_CUI:C0036412 disease_ontology DOID:11343 scleral disease An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717 ICD10CM:N32.3 ICD9CM:596.3 MESH:C562406 NCI:C160155 OMIM:109820 SNOMEDCT_US_2023_03_01:268335001 UMLS_CUI:C0156273 Diverticulum - bladder Diverticulum of bladder disease_ontology DOID:11353 OMIM mapping confirmed by DO. [SN]. bladder diverticulum ICD10CM:H27.11 ICD9CM:379.32 MESH:D007906 NCI:C34772 SNOMEDCT_US_2023_03_01:155203002 UMLS_CUI:C0023316 Subluxation of lens disease_ontology DOID:11364 lens subluxation MESH:D007906 ICD10CM:Q12.3 ICD9CM:743.35 NCI:C35172 OMIM:610256 SNOMEDCT_US_2023_03_01:35387008 UMLS_CUI:C0152422 APHAKIA, CONGENITAL PRIMARY Congenital absence of lens disease_ontology DOID:11367 OMIM mapping confirmed by DO. [SN]. congenital aphakia A colonic disease that is characterized by an abnormal dilation of the colon. DOID:1771 ICD10CM:K59.39 MESH:D008531 NCI:C34810 SNOMEDCT_US_2023_03_01:33995003 UMLS_CUI:C0025160 Dilatation of colon disease_ontology DOID:11372 megacolon A colonic disease that is characterized by an abnormal dilation of the colon. url:http://en.wikipedia.org/wiki/Megacolon 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. GARD:9286 ICD10CM:B83.1 ICD9CM:128.1 MESH:D058429 NCI:C128395 SNOMEDCT_US_2023_03_01:44086001 UMLS_CUI:C0018013 Gnathostomiasis Infectious Disease by Gnathostoma disease_ontology DOID:11379 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm GARD:10264 MESH:D008579 NCI:C6935 SNOMEDCT_US_2023_03_01:189167009 UMLS_CUI:C0347515 Spinal Cord meningioma disease_ontology DOID:1138 spinal meningioma ICD10CM:Q53.9 ICD9CM:752.51 MESH:D003456 NCI:C12326 OMIM:219050 SNOMEDCT_US_2023_03_01:204879009 UMLS_CUI:C0010417 Cryptorchism Undescended testicle Undescended testis undescended testicles disease_ontology DOID:11383 OMIM mapping confirmed by DO. [SN]. cryptorchidism 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. ICD10CM:F80.1 ICD9CM:315.31 NCI:C92562 SNOMEDCT_US_2023_03_01:80360005 UMLS_CUI:C0236826 Developmental expressive language disorder disease_ontology DOID:11385 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. url:http://en.wikipedia.org/wiki/Expressive_language_disorder 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. GARD:5698 ICD10CM:J80 MESH:D012128 NCI:C3353 SNOMEDCT_US_2023_03_01:155627006 UMLS_CUI:C0035222 ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS disease_ontology DOID:11394 PRISM. 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/ A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. DOID:13472 ICD10CM:J81 MESH:D011654 NCI:C26868 SNOMEDCT_US_2023_03_01:19242006 UMLS_CUI:C0034063 disease_ontology DOID:11396 pulmonary edema A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. url:https://pubmed.ncbi.nlm.nih.gov/11357010/ A cardiovascular system disease that involves the heart. ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 SNOMEDCT_US_2023_03_01:194707003 UMLS_CUI:C0018799 disease_ontology DOID:114 heart disease A cardiovascular system disease that involves the heart. url:http://en.wikipedia.org/wiki/Heart_disease NCI:C5134 UMLS_CUI:C1334264 disease_ontology DOID:1140 spinal canal and spinal cord meningioma ICD10CM:N16 ICD9CM:590.80 MESH:D011704 NCI:C34965 SNOMEDCT_US_2023_03_01:45816000 UMLS_CUI:C0034186 disease_ontology DOID:11400 pyelonephritis MESH:D011705 NCI:C123038 SNOMEDCT_US_2023_03_01:197777006 UMLS_CUI:C0034188 disease_ontology DOID:11401 xanthogranulomatous pyelonephritis GARD:6062 ICD10CM:H30.9 MESH:D002833 NCI:C35111 SNOMEDCT_US_2023_03_01:16553002 UMLS_CUI:C0008526 disease_ontology DOID:11406 choroiditis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. ICD10CM:N80.2 ICD9CM:617.2 NCI:C26763 SNOMEDCT_US_2023_03_01:22611009 UMLS_CUI:C0014177 Endometriosis of fallopian tube disease_ontology DOID:11424 fallopian tube endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. url:https://en.wikipedia.org/wiki/Endometriosis A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. NCI:C179646 SNOMEDCT_US_2023_03_01:55850004 UMLS_CUI:C0269106 disease_ontology DOID:11427 endosalpingiosis A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. url:https://en.wikipedia.org/wiki/Endosalpingiosis ICD10CM:H50.1 ICD9CM:378.1 MESH:D005099 NCI:C34601 SNOMEDCT_US_2023_03_01:155194007 UMLS_CUI:C0015310 Divergent Strabismus Divergent concomitant strabismus disease_ontology DOID:1143 exotropia A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. DOID:11426 ICD10CM:N80.1 ICD9CM:617.1 NCI:C27628 SNOMEDCT_US_2023_03_01:198250000 UMLS_CUI:C0156344 ovarian endometriosis disease_ontology DOID:11432 endometriosis of ovary A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. url:https://en.wikipedia.org/wiki/Endometriosis GARD:4561 ICD10CM:G93.2 ICD9CM:348.2 MESH:D011559 NCI:C85035 OMIM:243200 SNOMEDCT_US_2023_03_01:68267002 UMLS_CUI:C0033845 benign intracranial hypertension idiopathic intracranial hypertension disease_ontology DOID:11459 OMIM mapping confirmed by DO. [SN]. pseudotumor cerebri ICD10CM:C32.2 ICD9CM:161.2 NCI:C3546 SNOMEDCT_US_2023_03_01:94075002 UMLS_CUI:C0153485 Ca larynx - subglottis malignant Subglottic tumor malignant tumor of subglottis disease_ontology DOID:11472 subglottis cancer A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 MESH:D010024 NCI:C3298 OMIM:166710 SNOMEDCT_US_2023_03_01:156825006 UMLS_CUI:C0029456 disease_ontology DOID:11476 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Osteoporosis url:http://www.mayoclinic.com/health/osteoporosis/DS00128 url:http://www.niams.nih.gov/Health_Info/Bone/default.asp url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. DOID:14779 GARD:4410 ICD10CM:Q69 ICD9CM:755.0 MESH:C562429 MESH:D017689 NCI:C87110 OMIM:174200 OMIM:174500 OMIM:174700 OMIM:603596 SNOMEDCT_US_2023_03_01:205119005 UMLS_CUI:C0152427 UMLS_CUI:C0220697 postaxial polydactyly disease_ontology Supernumerary digit DOID:1148 polydactyly A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. url:https://en.wikipedia.org/wiki/Polydactyly ICD9CM:423.2 MESH:D010494 NCI:C78246 SNOMEDCT_US_2023_03_01:155340008 UMLS_CUI:C0031048 disease_ontology DOID:11481 constrictive pericarditis A pericardial effusion that results from blood in the pericardial sac. ICD9CM:423.0 MESH:D010490 NCI:C111644 SNOMEDCT_US_2023_03_01:155339006 UMLS_CUI:C0019064 Haemopericardium disease_ontology DOID:11482 hemopericardium A pericardial effusion that results from blood in the pericardial sac. url:http://en.wikipedia.org/wiki/Hemopericardium An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. GARD:6670 ICD10CM:G90.2 MESH:D006732 NCI:C28155 OMIM:143000 SNOMEDCT_US_2023_03_01:192922002 UMLS_CUI:C0019937 Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis disease_ontology DOID:11486 Horner's syndrome An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. url:https://pubmed.ncbi.nlm.nih.gov/14610154/ 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. ICD10CM:I31.4 ICD9CM:423.3 MESH:D002305 NCI:C50481 SNOMEDCT_US_2023_03_01:266295005 UMLS_CUI:C0007177 Rose's tamponade pericardial tamponade disease_ontology DOID:115 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. url:http://en.wikipedia.org/wiki/Cardiac_tamponade url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm DOID:11737 DOID:13947 ICD10CM:Q23.3 ICD9CM:396.3 ICD9CM:746.6 MESH:D008944 NCI:C50888 SNOMEDCT_US_2023_03_01:194736003 SNOMEDCT_US_2023_03_01:194977007 SNOMEDCT_US_2023_03_01:29928006 UMLS_CUI:C0026266 UMLS_CUI:C0158619 UMLS_CUI:C0264774 Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation disease_ontology DOID:11502 mitral valve insufficiency MESH:D003929 NCI:C27068 SNOMEDCT_US_2023_03_01:50620007 UMLS_CUI:C0271686 disease_ontology DOID:11503 diabetic autonomic neuropathy NCI:C27033 SNOMEDCT_US_2023_03_01:277879009 UMLS_CUI:C0259749 disease_ontology DOID:11504 autonomic neuropathy An eating disorder that is characterized by effortless regurgitation of most meals following consumption. GARD:7594 ICD9CM:307.53 MESH:D000079562 NCI:C92567 SNOMEDCT_US_2023_03_01:37941009 UMLS_CUI:C0154575 Psychogenic rumination disease_ontology DOID:11507 rumination disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. url:http://en.wikipedia.org/wiki/Rumination_syndrome A heart disease that is caused by high blood pressure. ICD10CM:I11 ICD9CM:402 NCI:C157879 SNOMEDCT_US_2023_03_01:155297007 UMLS_CUI:C0152105 disease_ontology DOID:11516 hypertensive heart disease 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 ICD10CM:J38.6 ICD9CM:478.74 MESH:D007829 NCI:C79608 SNOMEDCT_US_2023_03_01:195864007 UMLS_CUI:C0023075 Stenosis of larynx disease_ontology DOID:11527 laryngostenosis ICD10CM:H16.31 ICD9CM:370.55 NCI:C26969 SNOMEDCT_US_2023_03_01:64366002 UMLS_CUI:C0155091 disease_ontology DOID:11543 corneal abscess 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. GARD:5749 MESH:D000270 NCI:C34357 OMIM:103100 SNOMEDCT_US_2023_03_01:123051004 UMLS_CUI:C0001519 Adie's pupil or syndrome Adie's pupil syndrome Adie's syndrome Holmes-Adie syndrome disease_ontology DOID:11549 OMIM mapping confirmed by DO. [SN]. Adie syndrome MESH:D000270 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 ICD10CM:H49.0 MESH:D015840 NCI:C27597 SNOMEDCT_US_2023_03_01:12900003 UMLS_CUI:C0028866 III nerve palsy IIIrd nerve Paralysis Third cranial nerve paralysis disease_ontology DOID:11550 oculomotor nerve paralysis A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. GARD:10018 ICD10CM:H18.51 MESH:D005642 NCI:C84721 OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523 ORDO:98974 SNOMEDCT_US_2023_03_01:16949007 UMLS_CUI:C0016781 FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy disease_ontology DOID:11555 Xref MGI. 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. 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 An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. DOID:11303 DOID:1155 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 ICD9CM:712.1 NCI:C34955 OMIM:118600 OMIM:118610 OMIM:600668 ORDO:1416 SNOMEDCT_US_2023_03_01:201624004 SNOMEDCT_US_2023_03_01:201625003 UMLS_CUI:C0033802 UMLS_CUI:C0157852 calcium pyrophosphate deposition disease pseudogout disease_ontology DOID:1156 Xref MGI. chondrocalcinosis 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 ICD10CM:H35.03 ICD9CM:362.11 MESH:D058437 NCI:C3514 SNOMEDCT_US_2023_03_01:422001004 UMLS_CUI:C0152132 disease_ontology DOID:11561 hypertensive retinopathy 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. ICD10CM:A32 ICD9CM:027.0 MESH:D008088 NCI:C82994 SNOMEDCT_US_2023_03_01:186315001 UMLS_CUI:C0023860 Infection by Listeria monocytogenes Listeria infection disease_ontology DOID:11573 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. url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm 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. GARD:10987 ICD10CM:G83.4 ICD9CM:344.6 MESH:D000077684 NCI:C35436 SNOMEDCT_US_2023_03_01:89356000 UMLS_CUI:C0392548 disease_ontology DOID:11577 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. url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. ICD10CM:G90.1 MESH:D004402 NCI:C84706 OMIM:223900 SNOMEDCT_US_2023_03_01:204087006 UMLS_CUI:C0013364 HSAN III familial autonomic nervous dysfunction familial dysautonomia disease_ontology DOID:11589 OMIM mapping confirmed by DO. [SN]. Riley-Day syndrome A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/26769677/ ICD10CM:C67.2 ICD9CM:188.2 NCI:C12333 SNOMEDCT_US_2023_03_01:93863000 UMLS_CUI:C0496828 Lateral Wall of bladder malignant neoplasm of lateral wall of urinary bladder disease_ontology DOID:11593 bladder lateral wall cancer DOID:5780 ICD10CM:C38.0 NCI:C4567 NCI:C4651 SNOMEDCT_US_2023_03_01:126734005 SNOMEDCT_US_2023_03_01:93957005 UMLS_CUI:C0346609 UMLS_CUI:C0349574 Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium disease_ontology DOID:116 pericardium cancer A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. ICD10CM:P83.4 ICD9CM:778.7 MESH:D006177 NCI:C117312 SNOMEDCT_US_2023_03_01:34831003 UMLS_CUI:C1449721 Neonatal gynaecomastia breast engorgement in newborn disease_ontology DOID:11603 infant gynecomastia A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. url:https://www.aafp.org/afp/2012/0401/p716.html url:https://www.ncbi.nlm.nih.gov/pubmed/28260521 An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. EFO:0000660 ICD10CM:E28.2 ICD9CM:256.4 MESH:D011085 NCI:C26862 OMIM:184700 SNOMEDCT_US_2023_03_01:69878008 UMLS_CUI:C0032460 Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary disease_ontology DOID:11612 OMIM mapping confirmed by DO. [SN]. polycystic ovary syndrome An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome url:https://pubmed.ncbi.nlm.nih.gov/28791858 url:https://www.ncbi.nlm.nih.gov/pubmed/20591140 DOID:11614 ICD10CM:C60 ICD10CM:C60.2 ICD9CM:187.3 ICD9CM:187.4 MESH:D010412 NCI:C7547 SNOMEDCT_US_2023_03_01:93716006 SNOMEDCT_US_2023_03_01:93954003 UMLS_CUI:C0153600 UMLS_CUI:C0153601 Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm disease_ontology DOID:11615 penile cancer MESH:D010412 NCI:C3317 SNOMEDCT_US_2023_03_01:126896003 UMLS_CUI:C0030849 Penile tumor neoplasm of penis disease_ontology DOID:11624 penile benign neoplasm MESH:D018382 NCI:C85191 OMIM:188570 OMIM:274300 SNOMEDCT_US_2023_03_01:50375007 UMLS_CUI:C2940786 Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance disease_ontology DOID:11633 OMIM mapping confirmed by DO. [LS]. thyroid hormone resistance syndrome ICD10CM:E03.9 MESH:D009230 NCI:C34834 OMIM:255900 SNOMEDCT_US_2023_03_01:190274003 UMLS_CUI:C0027145 disease_ontology DOID:11634 OMIM mapping confirmed by DO. [SN]. myxedema A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. DOID:11651 ICD10CM:P27.1 MESH:D001997 NCI:C90599 Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease disease_ontology DOID:11650 bronchopulmonary dysplasia A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. url:https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. DOID:11655 GARD:5913 ICD10CM:L12.1 ICD9CM:694.6 ICD9CM:694.61 MESH:D010390 NCI:C34907 OMIM:164185 SNOMEDCT_US_2023_03_01:34250006 SNOMEDCT_US_2023_03_01:76092003 UMLS_CUI:C0030804 UMLS_CUI:C0157721 Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus disease_ontology DOID:11656 cicatricial pemphigoid A pemphigoid that is 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 ICD10CM:Q91.7 ICD9CM:758.1 MESH:D000073839 NCI:C101223 SNOMEDCT_US_2023_03_01:21111006 UMLS_CUI:C0152095 D1 Trisomy trisomy 13 disease_ontology Patau's syndrome DOID:11665 OMIM mapping confirmed by DO. [LS]. Patau syndrome 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. GARD:7252 ICD10CM:B73 ICD9CM:125.3 MESH:D009855 NCI:C34861 SNOMEDCT_US_2023_03_01:38539003 UMLS_CUI:C0029001 Infection by Onchocerca volvulus Onchocerca volvulus infection volvulosis disease_ontology DOID:11678 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm DOID:3147 ICD10CM:E78.5 MESH:D006949 MESH:D006951 NCI:C34707 NCI:C34709 SNOMEDCT_US_2023_03_01:154739000 SNOMEDCT_US_2023_03_01:3744001 UMLS_CUI:C0020473 UMLS_CUI:C0020476 familial hyperlipoproteinemia hyperlipemia disease_ontology hyperlipidaemia DOID:1168 familial hyperlipidemia NCI:C27548 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C1321683 disease_ontology DOID:11684 melanoacanthoma A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. ICD10CM:I81 ICD9CM:452 NCI:C78565 SNOMEDCT_US_2023_03_01:155455003 UMLS_CUI:C0155773 disease_ontology DOID:11695 portal vein thrombosis A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis A cardiovascular cancer located_in the heart. DOID:9918 GARD:2619 ICD10CM:C38.0 ICD9CM:164.1 MESH:D006338 NCI:C3081 NCI:C3548 SNOMEDCT_US_2023_03_01:126730001 SNOMEDCT_US_2023_03_01:93825008 UMLS_CUI:C0018809 UMLS_CUI:C0153500 Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart disease_ontology DOID:117 heart cancer A cardiovascular cancer located_in the heart. url:http://en.wikipedia.org/wiki/Heart_cancer MESH:D006954 NCI:C35645 OMIM:144650 SNOMEDCT_US_2023_03_01:34349009 UMLS_CUI:C0020481 Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia disease_ontology DOID:1171 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type V A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. MESH:D003923 NCI:C34537 SNOMEDCT_US_2023_03_01:408543001 UMLS_CUI:C0011859 lipoatrophic diabetes disease_ontology DOID:11712 lipoatrophic diabetes mellitus A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. DOID:10182 ICD9CM:250.7 MESH:D003925 NCI:C35610 SNOMEDCT_US_2023_03_01:127014009 UMLS_CUI:C0011871 UMLS_CUI:C0011875 Diabetic vascular disorder diabetic peripheral angiopathy disease_ontology DOID:11713 diabetic angiopathy A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. url:https://en.wikipedia.org/wiki/Diabetic_angiopathy A diabetes mellitus that manifests during pregnancy. EFO:0004593 ICD10CM:O24.4 MESH:D016640 NCI:C34942 SNOMEDCT_US_2023_03_01:11687002 UMLS_CUI:C0085207 GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus disease_ontology DOID:11714 gestational diabetes A diabetes mellitus that manifests during pregnancy. url:https://pubmed.ncbi.nlm.nih.gov/26824237/ A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. ICD10CM:R73.03 MESH:D011236 NCI:C122685 SNOMEDCT_US_2023_03_01:15777000 UMLS_CUI:C0362046 Prediabetes impaired glucose tolerance prediabetic state disease_ontology DOID:11716 prediabetes syndrome A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. url:https://pubmed.ncbi.nlm.nih.gov/26280340/ A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life. ICD10CM:P70.2 ICD9CM:775.1 NCI:C99248 SNOMEDCT_US_2023_03_01:49817004 UMLS_CUI:C0158981 diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus disease_ontology DOID:11717 neonatal diabetes A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ ICD10CM:G71.09 MESH:D039141 NCI:C84942 OMIM:164300 SNOMEDCT_US_2023_03_01:77097004 UMLS_CUI:C0270952 Muscular dystrophy, oculopharyngeal disease_ontology DOID:11719 OMIM mapping confirmed by DO. [SN]. oculopharyngeal muscular dystrophy DOID:0050527 ICD10CM:E78.1 ICD9CM:272.1 MESH:D006953 NCI:C34711 OMIM:144600 OMIM:145750 SNOMEDCT_US_2023_03_01:154741004 UMLS_CUI:C0020480 Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia disease_ontology DOID:1172 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type IV A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. ICD10CM:G71.09 MESH:D049310 NCI:C84675 OMIM:PS160500 ORDO:399096 ORDO:5448 ORDO:59135 SNOMEDCT_US_2023_03_01:58795000 UMLS_CUI:C0751336 distal muscular dystrophy disease_ontology DOID:11720 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal myopathy A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. url:https://rarediseases.org/rare-diseases/distal-myopathy/ A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. ICD10CM:E74.09 MESH:D006014 NCI:C118437 OMIM:232800 SNOMEDCT_US_2023_03_01:89597008 UMLS_CUI:C0017926 Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy disease_ontology DOID:11721 OMIM mapping confirmed by DO. [SN]. glycogen storage disease VII A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ 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_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. GARD:8310 ICD10CM:G71.11 ICD9CM:359.21 MESH:D009223 NCI:C84914 OMIM:160900 SNOMEDCT_US_2023_03_01:1177122009 UMLS_CUI:C0027126 Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert disease_ontology DOID:11722 OMIM mapping confirmed by DO. [SN]. 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_material_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/ A muscular dystrophy that has_material_basis_in X-linked 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. GARD:6291 MESH:D020388 NCI:C75482 OMIM:310200 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0013264 Muscular dystrophy, Duchenne disease_ontology DOID:11723 OMIM mapping confirmed by DO. [SN]. Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked 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 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. GARD:6907 ICD10CM:G71.03 MESH:D049288 NCI:C84828 ORDO:263 SNOMEDCT_US_2023_03_01:56096001 UMLS_CUI:C0686353 Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy disease_ontology DOID:11724 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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/ A syndrome 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. GARD:10109 ICD10CM:Q87.19 MESH:D003635 NCI:C75016 OMIM:PS122470 ORDO:199 SNOMEDCT_US_2023_03_01:40354009 UMLS_CUI:C0270972 Brachmann de Lange syndrome De Lange syndrome disease_ontology DOID:11725 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cornelia de Lange syndrome A syndrome 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 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. GARD:6329 MESH:D020389 NCI:C84685 OMIM:PS310300 ORDO:261 SNOMEDCT_US_2023_03_01:129620000 UMLS_CUI:C0410189 EDMD disease_ontology DOID:11726 Xref MGI. OMIM mapping confirmed by DO. [SN]. Emery-Dreifuss muscular dystrophy 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 GARD:9941 ICD10CM:G71.02 MESH:D020391 NCI:C84704 SNOMEDCT_US_2023_03_01:56096001 UMLS_CUI:C0238288 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine disease_ontology DOID:11727 OMIM mapping confirmed by DO. [SN]. facioscapulohumeral muscular dystrophy 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. DOID:12233 GARD:12073 ICD10CM:A69.2 ICD9CM:088.81 MESH:D008193 MESH:D020852 NCI:C45161 SNOMEDCT_US_2023_03_01:154376000 SNOMEDCT_US_2023_03_01:715507005 UMLS_CUI:C0024198 UMLS_CUI:C0752235 Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis disease_ontology DOID:11729 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. url:http://www.cdc.gov/lyme/transmission/index.html ICD10CM:D50 MESH:D000747 NCI:C34380 SNOMEDCT_US_2023_03_01:44452003 UMLS_CUI:C0002884 ANEMIA HYPOCHROMIC disease_ontology DOID:11759 hypochromic anemia A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. ICD10CM:J37.0 ICD9CM:476.0 NCI:C26975 SNOMEDCT_US_2023_03_01:155535001 UMLS_CUI:C0155836 disease_ontology DOID:11797 chronic laryngitis 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 A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. MESH:D010490 NCI:C3319 SNOMEDCT_US_2023_03_01:70370001 UMLS_CUI:C0031039 disease_ontology DOID:118 pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. url:http://en.wikipedia.org/wiki/Pericardial_effusion A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. ICD10CM:E46 ICD9CM:263.9 MESH:D011502 NCI:C34952 SNOMEDCT_US_2023_03_01:72608005 UMLS_CUI:C0033677 disease_ontology DOID:11801 protein-energy malnutrition A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. url:https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. NCI:C4669 SNOMEDCT_US_2023_03_01:278046008 UMLS_CUI:C0349666 sarcoma of bladder sarcoma of the urinary bladder disease_ontology DOID:11812 bladder sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. url:https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas ICD10CM:C67.6 ICD9CM:188.6 NCI:C12337 SNOMEDCT_US_2023_03_01:188245008 UMLS_CUI:C0153614 Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice disease_ontology DOID:11818 ureteric orifice cancer A urinary system cancer that is located_in the ureter. ICD10CM:C66 ICD9CM:189.2 MESH:D014516 NCI:C7543 OMIM:191600 SNOMEDCT_US_2023_03_01:94121005 UMLS_CUI:C0153619 malignant tumour of ureter malignant ureteral tumor disease_ontology DOID:11819 OMIM mapping confirmed by DO. [SN]. ureter cancer A urinary system cancer that is located_in the ureter. url:http://en.wikipedia.org/wiki/Ureter_cancer ICD10CM:C67.1 ICD9CM:188.1 NCI:C12332 SNOMEDCT_US_2023_03_01:93678005 UMLS_CUI:C0496827 Superior Surface of bladder malignant neoplasm of apex of urinary bladder malignant neoplasm of dome of urinary bladder malignant tumor of vault of bladder disease_ontology DOID:11820 bladder dome cancer NCI:C6164 UMLS_CUI:C1332561 Lymphoma of the urinary bladder disease_ontology DOID:11821 bladder lymphoma An acute kidney failure that is characterized by severe renal vasoconstriction. GARD:6610 ICD10CM:K76.7 ICD9CM:572.4 MESH:D006530 NCI:C113400 SNOMEDCT_US_2023_03_01:51292008 UMLS_CUI:C0019212 disease_ontology DOID:11823 hepatorenal syndrome An acute kidney failure that is characterized by severe renal vasoconstriction. url:https://www.ncbi.nlm.nih.gov/books/NBK470565/ A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. GARD:7103 ICD10CM:E78.81 NCI:C27896 ORDO:139436 SNOMEDCT_US_2023_03_01:84241008 UMLS_CUI:C0311284 Lipoid dermatoarthritis disease_ontology DOID:11824 multicentric reticulohistiocytosis A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis url:https://www.ncbi.nlm.nih.gov/pubmed/23130232 EFO:0004207 ICD10CM:H44.2 ICD9CM:360.21 MESH:D047728 NCI:C157149 SNOMEDCT_US_2023_03_01:32022003 UMLS_CUI:C0154778 degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia disease_ontology DOID:11829 degenerative myopia A refractive error characterized by the inability to see farther objects clearly. ICD10CM:H52.1 ICD9CM:367.1 MESH: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_2023_03_01:155133003 UMLS_CUI:C0027092 near vision near-sightedness short-sightedness disease_ontology DOID:11830 Xref MGI. myopia MESH:D009216 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 ICD10CM:H47.61 ICD9CM:377.75 MESH:D019575 NCI:C118707 SNOMEDCT_US_2023_03_01:68574006 UMLS_CUI:C0155320 disease_ontology DOID:11831 cortical blindness MESH:D012640 NCI:C3980 SNOMEDCT_US_2023_03_01:39194005 UMLS_CUI:C0270824 epilepsy, visual disease_ontology DOID:11832 visual epilepsy A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. DOID:0001874 ICD10CM:Q66.89 ICD9CM:754.51 MESH:D003025 NCI:C84641 OMIM:119800 SNOMEDCT_US_2023_03_01:33163000 UMLS_CUI:C0009081 Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus disease_ontology DOID:11836 OMIM mapping confirmed by DO. [SN]. clubfoot A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. url:http://en.wikipedia.org/wiki/Club_foot url:https://www.ncbi.nlm.nih.gov/pubmed/17610748 A sarcoma and malignant neoplasm of penis that is located_in the penis. NCI:C7730 UMLS_CUI:C0238352 sarcoma of penis disease_ontology DOID:11838 penis sarcoma A sarcoma and malignant neoplasm of penis that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/ A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. ICD10CM:N04 ICD9CM:581 MESH:D009404 NCI:C34845 SNOMEDCT_US_2023_03_01:155851004 UMLS_CUI:C0027726 disease_ontology DOID:1184 Xref MGI. nephrotic syndrome A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. url:https://en.wikipedia.org/wiki/Nephrotic_syndrome url:https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults MESH:D003329 NCI:C34515 SNOMEDCT_US_2023_03_01:23687008 UMLS_CUI:C0010073 Coronary Vasospasm Coronary artery spasm disease_ontology DOID:11840 coronary artery vasospasm A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. GARD:7392 ICD10CM:G31.01 ICD9CM:331.11 MESH:D020774 NCI:C85008 OMIM:172700 SNOMEDCT_US_2023_03_01:154998003 UMLS_CUI:C0236642 Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease disease_ontology DOID:11870 OMIM mapping confirmed by DO. [SN]. Pick's disease MESH:D020774 A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. url:https://www.ncbi.nlm.nih.gov/books/NBK562226/ MESH:D014516 NCI:C3427 SNOMEDCT_US_2023_03_01:126882009 UMLS_CUI:C0041955 neoplasm of ureter ureteral tumor disease_ontology DOID:11885 ureteral benign neoplasm An ureteral benign neoplasm that derives_from smooth muscle cells. NCI:C6161 UMLS_CUI:C1336875 ureteral leiomyoma disease_ontology DOID:11887 ureter leiomyoma An ureteral benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23894911 NCI:C6162 UMLS_CUI:C1336877 ureteral schwannoma disease_ontology DOID:11888 schwannoma of ureter A female reproductive system cancer that is located_in the vagina. DOID:1902 GARD:9348 ICD10CM:C52 ICD9CM:184.0 MESH:D014625 NCI:C3437 NCI:C7410 SNOMEDCT_US_2023_03_01:126921000 SNOMEDCT_US_2023_03_01:188210000 UMLS_CUI:C0042237 UMLS_CUI:C0042258 malignant neoplasm of vagina malignant tumor of vagina malignant vaginal tumor neoplasm of vagina vagina neoplasm vaginal tumor disease_ontology DOID:119 vaginal cancer A female reproductive system cancer that is located_in the vagina. url:http://www.cancer.gov/dictionary?CdrID=523460 A vulva cancer that is located_in the labium majus. ICD10CM:C51.0 ICD9CM:184.1 NCI:C7638 SNOMEDCT_US_2023_03_01:93850006 UMLS_CUI:C0496814 malignant neoplasm of labia majora malignant tumor of Labia Majora disease_ontology DOID:11905 labium majus cancer A vulva cancer that is located_in the labium majus. url:https://pubmed.ncbi.nlm.nih.gov/16006794/ ICD10CM:K31.84 ICD9CM:536.3 MESH:D018589 NCI:C80512 SNOMEDCT_US_2023_03_01:235675006 UMLS_CUI:C0152020 Gastroparalysis Gastroparesis syndrome gastric atonia disease_ontology DOID:11914 gastroparesis 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. ICD9CM:110.3 NCI:C34535 SNOMEDCT_US_2023_03_01:59089002 UMLS_CUI:C0011638 Dermatophytosis of groin & perianal area Dhobie itch dermatophytosis of groin and perianal area disease_ontology DOID:11917 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. url:http://en.wikipedia.org/wiki/Tinea_cruris A nervous system cancer that is located in the peripheral nervous system. DOID:3194 MESH:D010524 MESH:D018317 NCI:C3321 NCI:C4972 SNOMEDCT_US_2023_03_01:126980002 SNOMEDCT_US_2023_03_01:189946005 UMLS_CUI:C0031118 UMLS_CUI:C0206727 neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS disease_ontology DOID:1192 peripheral nervous system neoplasm A nervous system cancer that is located in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Peripheral_nervous_system A respiratory system cancer that is located_in the trachea. ICD10CM:C33 ICD9CM:162.0 NCI:C9346 SNOMEDCT_US_2023_03_01:187855003 UMLS_CUI:C0153489 disease_ontology DOID:11920 tracheal cancer A respiratory system cancer that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_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. GARD:12425 MESH:D006258 NCI:C3077 SNOMEDCT_US_2023_03_01:255055008 UMLS_CUI:C0018671 head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck disease_ontology DOID:11934 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. 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 EFO:0004226 GARD:6956 ICD10CM:A81.0 ICD9CM:046.1 MESH:D007562 NCI:C26802 OMIM:123400 SNOMEDCT_US_2023_03_01:155061007 UMLS_CUI:C0022336 CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia disease_ontology DOID:11949 OMIM mapping confirmed by DO. [SN]. Creutzfeldt-Jakob disease NCI:C27025 SNOMEDCT_US_2023_03_01:129611009 UMLS_CUI:C0238309 Ischemic peripheral neuropathy disease_ontology DOID:1195 ischemic neuropathy DOID:11962 ICD10CM:K20 ICD9CM:530.1 MESH:D004941 NCI:C9224 SNOMEDCT_US_2023_03_01:155673008 UMLS_CUI:C0014868 acute esophagitis disease_ontology DOID:11963 esophagitis 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. GARD:943 ICD10CM:A05.1 MESH:D001906 NCI:C84599 SNOMEDCT_US_2023_03_01:154276003 UMLS_CUI:C0006057 Botulism poisoning Food poisoning due to Clostridium botulinum Foodborne botulism Infection due to clostridium botulinum Intoxication with Clostridium botulinum toxin disease_ontology DOID:11976 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. url:http://en.wikipedia.org/wiki/Botulism url:https://en.wikipedia.org/wiki/Botulism url:https://www.cdc.gov/botulism/index.html ICD9CM:278.01 MESH:D009767 NCI:C34858 SNOMEDCT_US_2023_03_01:389986000 UMLS_CUI:C0028756 Severe obesity disease_ontology DOID:11981 morbid obesity A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. GARD:5575 ICD10CM:Q87.11 ICD9CM:759.81 MESH:D011218 NCI:C75463 OMIM:176270 ORDO:739 SNOMEDCT_US_2023_03_01:205794007 UMLS_CUI:C0032897 Prader Willi syndrome disease_ontology DOID:11983 OMIM mapping confirmed by DO. [SN]. Prader-Willi syndrome A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. url:https://ghr.nlm.nih.gov/condition/prader-willi-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1330/ An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. DOID:11986 ICD9CM:425.1 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 SNOMEDCT_US_2023_03_01:389998005 UMLS_CUI:C0007194 hypertrophic obstructive cardiomyopathy disease_ontology DOID:11984 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypertrophic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. url:http://en.wikipedia.org/wiki/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/ An osteosclerosis that results_in numerous bone islands located_in skeleton. GARD:4158 ICD10CM:Q78.8 ICD9CM:756.53 MESH:D010023 NCI:C84985 SNOMEDCT_US_2023_03_01:9147009 UMLS_CUI:C0029455 disease_ontology DOID:11991 osteopoikilosis An osteosclerosis that results_in numerous bone islands located_in skeleton. url:http://en.wikipedia.org/wiki/Osteopoikilosis ICD10CM:N50.0 ICD9CM:608.3 NCI:C123259 SNOMEDCT_US_2023_03_01:155938008 UMLS_CUI:C0156312 disease_ontology DOID:11994 atrophy of testis ICD10CM:N44.02 ICD9CM:608.2 MESH:D013086 NCI:C26885 OMIM:187400 SNOMEDCT_US_2023_03_01:198046000 UMLS_CUI:C0037856 Torsion of testicle Torsion of testis testicular Torsion disease_ontology DOID:11996 spermatic cord torsion ICD10CM:N43.4 ICD9CM:608.1 MESH:D013088 NCI:C120909 SNOMEDCT_US_2023_03_01:155936007 UMLS_CUI:C0037859 disease_ontology DOID:11997 spermatocele 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:1244 DOID:1281 ICD10CM:C57 ICD9CM:184 MESH:D005833 NCI:C3053 NCI:C4913 SNOMEDCT_US_2023_03_01:126907002 SNOMEDCT_US_2023_03_01:188207007 UMLS_CUI:C0017416 UMLS_CUI:C0153585 UMLS_CUI:C0699889 female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ disease_ontology DOID:120 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. url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm NCI:C6248 UMLS_CUI:C1336773 Lymphoma of Trachea lymphoma of the trachea disease_ontology DOID:12001 tracheal lymphoma A sarcoma and malignant tumor of trachea that is located_in the trachea. NCI:C6050 UMLS_CUI:C1336774 sarcoma of the trachea disease_ontology DOID:12002 trachea sarcoma A sarcoma and malignant tumor of trachea that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer A squamous cell carcinoma that is located_in the trachea. NCI:C4448 SNOMEDCT_US_2023_03_01:254620000 UMLS_CUI:C0345946 Tracheal Epidermoid carcinoma disease_ontology DOID:12003 trachea squamous cell carcinoma A squamous cell carcinoma that is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pubmed/26066883 NCI:C5122 SNOMEDCT_US_2023_03_01:126971002 UMLS_CUI:C1263897 neoplasm of trigeminal nerve tumor of Trigeminal nerve disease_ontology DOID:1201 trigeminal nerve neoplasm DOID:12015 ICD10CM:C71.1 ICD9CM:191.1 NCI:C5572 SNOMEDCT_US_2023_03_01:126954003 SNOMEDCT_US_2023_03_01:93807001 UMLS_CUI:C0153635 UMLS_CUI:C1263886 malignant neoplasm of frontal lobe neoplasm of frontal lobe tumor of Frontal Lobe disease_ontology DOID:12016 frontal lobe neoplasm An adrenal adenoma characterized by the over production of aldosterone. GARD:7456 ICD10CM:E26.01 ICD9CM:255.12 MESH:D006929 NCI:C34510 SNOMEDCT_US_2023_03_01:13536004 UMLS_CUI:C1384514 Conn syndrome primary aldosteronism disease_ontology DOID:12028 Conn's syndrome An adrenal adenoma characterized by the over production of aldosterone. url:http://en.wikipedia.org/wiki/Conn%27s_syndrome An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. GARD:8577 ICD10CM:H44.11 ICD9CM:360.12 MESH:D015864 NCI:C84989 SNOMEDCT_US_2023_03_01:75614007 UMLS_CUI:C0030343 Diffuse uveitis disease_ontology DOID:12030 panuveitis An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. url:https://rarediseases.info.nih.gov/diseases/8577/panuveitis ICD10CM:P57.0 ICD9CM:773.4 NCI:C101270 SNOMEDCT_US_2023_03_01:206433007 UMLS_CUI:C0270204 disease_ontology DOID:12043 kernicterus due to isoimmunization 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. allergic disease ICD10CM:T78.40 MESH:D006967 NCI:C3114 SNOMEDCT_US_2023_03_01:257550005 UMLS_CUI:C0020517 allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease disease_ontology DOID:1205 allergic 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. url:http://en.wikipedia.org/wiki/Allergy ls:IEDB An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. GARD:6218 ICD10CM:B45 ICD9CM:117.5 MESH:D003453 NCI:C2967 SNOMEDCT_US_2023_03_01:42386007 UMLS_CUI:C0010414 Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis disease_ontology cryptococcus neoformans infection DOID:12053 cryptococcosis MESH:D003453 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 A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. GARD:5696 ICD10CM:F84.2 MESH:D015518 NCI:C75488 OMIM:312750 OMIM:613454 SNOMEDCT_US_2023_03_01:192583003 UMLS_CUI:C0035372 Rett's disorder cerebroatrophic hyperammonemia disease_ontology DOID:1206 OMIM mapping confirmed by DO. [SN]. Rett syndrome A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm url:https://medlineplus.gov/ency/article/001536.htm NCI:C6631 UMLS_CUI:C1334674 Neurofibroma of mediastinum disease_ontology DOID:12064 mediastinum neurofibroma A female reproductive system disease that is located_in the vagina. MESH:D014623 NCI:C26910 SNOMEDCT_US_2023_03_01:25658005 UMLS_CUI:C0042251 disease_ontology DOID:121 vaginal disease A female reproductive system disease that is located_in the vagina. url:https://en.wikipedia.org/wiki/Vaginal_disease An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. GARD:7320 ICD10CM:H46 ICD9CM:377.3 MESH:D009902 NCI:C84950 SNOMEDCT_US_2023_03_01:194051001 UMLS_CUI:C0029134 disease_ontology DOID:1210 optic neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. url:https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953 sn:IEDB A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. ICD10CM:J84.01 ICD9CM:516.0 MESH:D011649 NCI:C85037 OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370 ORDO:264675 SNOMEDCT_US_2023_03_01:10501004 UMLS_CUI:C0034050 disease_ontology DOID:12120 Xref MGI. pulmonary alveolar proteinosis 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 An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. ICD9CM:307.52 MESH:D010842 NCI:C92566 SNOMEDCT_US_2023_03_01:14077003 UMLS_CUI:C0031873 disease_ontology DOID:12128 pica disease 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 An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and 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. GARD:7880 ICD10CM:M31.3 ICD9CM:446.4 MESH:D014890 NCI:C3444 OMIM:608710 SNOMEDCT_US_2023_03_01:195353004 UMLS_CUI:C3495801 Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly disease_ontology DOID:12132 granulomatosis with polyangiitis An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and 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:https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. GARD:6591 ICD10CM:D66 ICD9CM:286.0 MESH:D006467 NCI:C27146 OMIM:306700 ORDO:98878 SNOMEDCT_US_2023_03_01:28293008 UMLS_CUI:C0019069 Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A disease_ontology DOID:12134 OMIM mapping confirmed by DO. [SN]. factor VIII deficiency MESH:D006467 A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. url:http://en.wikipedia.org/wiki/Hemophilia_A sn:IEDB A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. ICD10CM:F34.1 ICD9CM:300.4 MESH:D019263 NCI:C34562 SNOMEDCT_US_2023_03_01:192384008 UMLS_CUI:C0013415 dysthymia disease_ontology DOID:12139 dysthymic disorder 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 ICD9CM:596.54 MESH:D001750 NCI:C79696 SNOMEDCT_US_2023_03_01:192972000 UMLS_CUI:C0005697 Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder disease_ontology DOID:12143 neurogenic bladder 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 Mammarenavirus choriomeningitidis, 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 ICD10CM:A87.2 MESH:D008216 NCI:C174114 SNOMEDCT_US_2023_03_01:192668002 UMLS_CUI:C0024266 LCM Lymphocytic choriomeningitis virus encephalomyelitis Lymphocytic meningitis Lymphocytic meningoencephalitis disease_ontology DOID:12155 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 Mammarenavirus choriomeningitidis, 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 GARD:5839 ICD10CM:G03 MESH:D001100 NCI:C37913 SNOMEDCT_US_2023_03_01:154986008 UMLS_CUI:C0003708 disease_ontology DOID:12156 arachnoiditis A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. ICD10CM:G03.0 MESH:D008582 NCI:C118299 SNOMEDCT_US_2023_03_01:186490006 UMLS_CUI:C0025290 acute aseptic meningitis disease_ontology DOID:12157 aseptic meningitis A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/ url:https://www.ncbi.nlm.nih.gov/pubmed/23622323 ICD10CM:H35.4 ICD9CM:362.6 NCI:C34919 SNOMEDCT_US_2023_03_01:193393004 UMLS_CUI:C1320640 peripheral degeneration of retina disease_ontology DOID:12161 peripheral retinal degeneration A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. ICD10CM:G56.0 ICD9CM:354.0 MESH:D002349 NCI:C34450 OMIM:PS115430 SNOMEDCT_US_2023_03_01:193126005 UMLS_CUI:C0007286 CTS - Carpal tunnel syndrome Median nerve entrapment carpal tunnel median neuropathy disease_ontology DOID:12169 carpal tunnel syndrome A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. url:https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome url:https://medlineplus.gov/ency/article/000433.htm url:https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/ A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. ICD10CM:E04.9 ICD9CM:240.9 MESH:D006042 NCI:C26785 SNOMEDCT_US_2023_03_01:237568003 UMLS_CUI:C0018021 goitre disease_ontology DOID:12176 goiter MESH:D006042 A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. url:http://www.thyroid.org/patients/patient_brochures/goiter.html 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 GARD:6254 ICD10CM:A90 ICD9CM:061 MESH:D003715 NCI:C34528 SNOMEDCT_US_2023_03_01:38362002 UMLS_CUI:C0011311 Dengue Fever breakbone fever classic dengue disease_ontology classical dengue DOID:12205 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. url:http://www.cdc.gov/dengue/fAQFacts/index.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue 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. ICD10CM:A91 MESH:D019595 NCI:C34683 SNOMEDCT_US_2023_03_01:20927009 UMLS_CUI:C0019100 DHF disease_ontology Dengue haemorrhagic fever DOID:12206 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. 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 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. DOID:13433 MESH:D004605 NCI:C128360 SNOMEDCT_US_2023_03_01:240820001 UMLS_CUI:C0013884 Bancroftian elephantiasis Bancroftian filarial chyluria Lymphatic filariasis elephantiasis of eyelid disease_ontology DOID:12211 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. url:https://www.cdc.gov/parasites/lymphaticfilariasis/index.html url:https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis 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:12595 DOID:12596 ICD10CM:O41.0 ICD9CM:658.0 MESH:D016104 NCI:C92839 SNOMEDCT_US_2023_03_01:157051001 UMLS_CUI:C0079924 Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios disease_ontology DOID:12215 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. url:http://www.merriam-webster.com/medlineplus/oligohydramnios A dementia 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. GARD:3243 ICD10CM:G31.83 ICD9CM:331.82 MESH:D020961 NCI:C84826 OMIM:127750 SNOMEDCT_US_2023_03_01:192808003 UMLS_CUI:C0752347 Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type disease_ontology DOID:12217 OMIM mapping confirmed by DO. [SN]. Lewy body dementia A dementia 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 A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. DOID:1851 EFO:0004267 GARD:7459 ICD10CM:K74.3 ICD10CM:K74.5 ICD9CM:571.6 MESH:D008105 NCI:C27167 NCI:C51225 OMIM:PS109720 ORDO:186 SNOMEDCT_US_2023_03_01:1761006 SNOMEDCT_US_2023_03_01:31712002 UMLS_CUI:C0008312 UMLS_CUI:C0023892 biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis disease_ontology DOID:12236 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary biliary 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 url:https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 ICD10CM:C44.520 NCI:C6925 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C1412037 Perianal skin squamous cell carcinoma disease_ontology DOID:12239 anal margin squamous cell carcinoma A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. GARD:871 ICD10CM:D56.1 ICD9CM:282.44 MESH:D017086 NCI:C34375 OMIM:613985 ORDO:848 SNOMEDCT_US_2023_03_01:65959000 UMLS_CUI:C0005283 disease_ontology DOID:12241 Xref MGI. OMIM mapping confirmed by DO. [SN]. beta thalassemia MESH:D017086 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. url:http://en.wikipedia.org/wiki/Beta_thalassemia url:https://ghr.nlm.nih.gov/condition/beta-thalassemia url:https://pubmed.ncbi.nlm.nih.gov/31030806/ url:https://www.ncbi.nlm.nih.gov/books/NBK1426/ url:https://www.ncbi.nlm.nih.gov/pubmed/10395635 NCI:C6810 SNOMEDCT_US_2023_03_01:277664004 UMLS_CUI:C0349644 lymphoma of the testis malignant lymphoma of testis disease_ontology DOID:12253 testicular lymphoma A 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. GARD:8732 ICD10CM:D67 ICD9CM:286.1 MESH:D002836 NCI:C26721 OMIM:306900 SNOMEDCT_US_2023_03_01:41788008 UMLS_CUI:C0008533 Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency disease_ontology DOID:12259 OMIM mapping confirmed by DO. [SN]. hemophilia B A 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 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. GARD:1433 ICD10CM:Q13.0 MESH:D003103 NCI:C98877 OMIM:120200 OMIM:120300 OMIM:216820 ORDO:194 ORDO:98945 SNOMEDCT_US_2023_03_01:93390002 UMLS_CUI:C0009363 coloboma of eye coloboma of macula congenital ocular coloboma disease_ontology DOID:12270 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Coloboma url:http://ghr.nlm.nih.gov/condition/coloboma An iris disease that is characterized by a complete or partial absence of the colored part of the eye. GARD:5816 ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 NCI:C84563 OMIM:PS106210 ORDO:250923 SNOMEDCT_US_2023_03_01:69278003 UMLS_CUI:C0003076 Aplasia of iris isolated aniridia disease_ontology DOID:12271 aniridia GARD:5816 ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 NCI:C84563 OMIM:PS106210 ORDO:250923 UMLS_CUI:C0003076 An iris disease that is characterized by a complete or partial absence of the colored part of the eye. url:https://medlineplus.gov/genetics/condition/aniridia/ 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. ICD10CM:A36.3 ICD9CM:032.85 NCI:C34544 SNOMEDCT_US_2023_03_01:18901009 UMLS_CUI:C0012555 disease_ontology DOID:12275 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. 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 NCI:C9277 UMLS_CUI:C1336711 disease_ontology DOID:12286 testicular leukemia A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, 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. ICD10CM:A98.0 ICD9CM:065.0 MESH:D006479 NCI:C34682 SNOMEDCT_US_2023_03_01:43489008 UMLS_CUI:C0019099 CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever disease_ontology DOID:12287 Crimean-Congo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, 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/ A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. DOID:11238 DOID:1230 ICD10CM:F20.0 ICD9CM:295.3 ICD9CM:295.32 MESH:D012563 NCI:C35006 SNOMEDCT_US_2023_03_01:154865007 SNOMEDCT_US_2023_03_01:191553009 UMLS_CUI:C0036349 UMLS_CUI:C0270398 Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state disease_ontology DOID:1229 paranoid schizophrenia A schizophrenia characterized by 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 An autoimmune 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. GARD:7862 ICD10CM:H20.82 ICD9CM:364.24 MESH:D014607 NCI:C85218 SNOMEDCT_US_2023_03_01:44923005 UMLS_CUI:C0042170 Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome disease_ontology DOID:12297 Vogt-Koyanagi-Harada disease An autoimmune 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. url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome ls:IEDB ICD10CM:Q82.3 MESH:D007184 NCI:C84787 OMIM:308300 SNOMEDCT_US_2023_03_01:205567005 UMLS_CUI:C0021171 Incontinentia pigmenti Incontinentia pigmenti syndrome disease_ontology DOID:12305 OMIM mapping confirmed by DO. [SN]. Bloch-Sulzberger syndrome An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. EFO:0004208 GARD:10751 ICD10CM:L80 ICD9CM:709.01 MESH:D014820 NCI:C26915 OMIM:193200 SNOMEDCT_US_2023_03_01:156437000 UMLS_CUI:C0042900 disease_ontology DOID:12306 OMIM mapping confirmed by DO. [LS]. vitiligo An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. url:http://en.wikipedia.org/wiki/Vitiligo ls:IEDB 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. GARD:6289 ICD10CM:E80.6 MESH:D007566 NCI:C34741 OMIM:237500 SNOMEDCT_US_2023_03_01:44553005 UMLS_CUI:C0022350 Dubin Johnson syndrome chronic idiopathic jaundice disease_ontology DOID:12308 OMIM mapping confirmed by DO. [SN]. 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 ICD10CM:D47.01 MESH:D014582 NCI:C3433 SNOMEDCT_US_2023_03_01:205566001 UMLS_CUI:C0042111 UP/MPCM disease_ontology DOID:12309 OMIM mapping confirmed by DO. [LS]. urticaria pigmentosa MESH:D014582 An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. ICD10CM:H18.53 ICD9CM:371.53 MESH:D003317 NCI:C34651 SNOMEDCT_US_2023_03_01:45283008 UMLS_CUI:C0018179 disease_ontology DOID:12318 granular corneal dystrophy An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm ICD10CM:F64.1 ICD9CM:302.3 MESH:D014190 NCI:C94359 SNOMEDCT_US_2023_03_01:472948001 UMLS_CUI:C0040774 Dual-role transvestism Fetishistic transvestism Transvestic fetishism cross dresser disease_ontology DOID:1233 transvestism NCI:C7353 UMLS_CUI:C1335779 disease_ontology DOID:12339 retroperitoneal lymphoma A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. NCI:C4832 SNOMEDCT_US_2023_03_01:307219002 UMLS_CUI:C0585129 disease_ontology DOID:12341 retroperitoneal sarcoma 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/ NCI:C7352 UMLS_CUI:C0948749 carcinoma of Retroperitoneum disease_ontology carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. DOID:14708 GARD:1017 ICD10CM:Q78.0 ICD9CM:756.51 MESH:D010013 NCI:C26837 OMIM:PS166200 ORDO:666 SNOMEDCT_US_2023_03_01:254109004 UMLS_CUI:C0029434 Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease disease_ontology Fragilitas ossium DOID:12347 Xref MGI. OMIM mapping confirmed by DO. [SN]. osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. 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 ICD10CM:F65.0 ICD9CM:302.81 MESH:D005329 NCI:C94353 SNOMEDCT_US_2023_03_01:192513009 UMLS_CUI:C0015957 disease_ontology DOID:1235 fetishism DOID:12350 ICD9CM:571.1 NCI:C34352 SNOMEDCT_US_2023_03_01:9953008 UMLS_CUI:C0001306 acute alcoholic hepatitis acute alcoholic liver disease disease_ontology DOID:12351 alcoholic hepatitis An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. EFO:0004237 ICD10CM:E05.0 MESH:D006111 NCI:C3071 OMIM:275000 SNOMEDCT_US_2023_03_01:154655004 UMLS_CUI:C0018213 Grave's disease Graves disease exophthalmic goiter disease_ontology Basedow's disease DOID:12361 Xref MGI. OMIM mapping confirmed by DO. [SN]. Graves' disease 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 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:12552 EFO:0001068 GARD:6961 ICD10CM:B54 ICD9CM:084 MESH:D008288 NCI:C34797 ORDO:673 SNOMEDCT_US_2023_03_01:154374002 UMLS_CUI:C0024530 induced malaria disease_ontology DOID:12365 Xref MGI. 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 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. ICD10CM:J18.0 ICD9CM:485 MESH:D001996 NCI:C26710 SNOMEDCT_US_2023_03_01:155551009 UMLS_CUI:C0006285 Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia disease_ontology DOID:12375 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. DOID:13161 ICD9CM:335.11 MESH:D014897 NCI:C118847 OMIM:253400 SNOMEDCT_US_2023_03_01:54280009 UMLS_CUI:C0152109 Kugelberg-Welander disease SMA3 Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy disease_ontology DOID:12376 OMIM mapping confirmed by DO. [SN]. juvenile spinal muscular atrophy A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/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. GARD:7674 ICD10CM:G12.9 ICD9CM:335.1 MESH:D009134 NCI:C85075 SNOMEDCT_US_2023_03_01:5262007 UMLS_CUI:C0026847 disease_ontology DOID:12377 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. url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy url:https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy url:https://www.ncbi.nlm.nih.gov/pubmed/26022173 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:12950 DOID:2041 DOID:924 DOID:925 GARD:4818 ICD10CM:A03 ICD10CM:A03.0 ICD10CM:A03.1 ICD10CM:A03.2 ICD9CM:004 ICD9CM:004.0 ICD9CM:004.1 ICD9CM:004.2 KEGG:05131 MESH:D004405 NCI:C157978 SNOMEDCT_US_2023_03_01:111817006 SNOMEDCT_US_2023_03_01:34335000 SNOMEDCT_US_2023_03_01:55760004 SNOMEDCT_US_2023_03_01:66301008 UMLS_CUI:C0013371 UMLS_CUI:C0302358 UMLS_CUI:C0302359 UMLS_CUI:C0302360 Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery disease_ontology DOID:12385 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. url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh 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. GARD:809 ICD10CM:A07.0 ICD9CM:007.0 MESH:D001447 NCI:C84583 SNOMEDCT_US_2023_03_01:57725006 UMLS_CUI:C0004692 disease_ontology DOID:12386 balantidiasis MESH:D001447 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:https://www.ncbi.nlm.nih.gov/pubmed/14760781 A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). GARD:7178 ICD10CM:N25.1 ICD9CM:588.1 MESH:D018500 NCI:C84919 ORDO:223 SNOMEDCT_US_2023_03_01:123294004 UMLS_CUI:C0162283 disease_ontology vasopressin-resistant diabetes insipidus DOID:12387 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. nephrogenic diabetes insipidus A diabetes insipidus that is 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:https://medlineplus.gov/ency/article/000511.htm A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. MESH:D020790 NCI:C84933 OMIM:125700 ORDO:30925 SNOMEDCT_US_2023_03_01:267393007 UMLS_CUI:C0687720 Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus disease_ontology DOID:12388 OMIM mapping confirmed by DO. [SN]. neurohypophyseal diabetes insipidus A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. url:https://pubmed.ncbi.nlm.nih.gov/15070970/ An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. ICD10CM:F63.0 ICD9CM:312.31 MESH:D005715 NCI:C94335 OMIM:606349 SNOMEDCT_US_2023_03_01:18085000 UMLS_CUI:C0030662 Compulsive gambling disease_ontology DOID:12399 OMIM mapping confirmed by DO. [SN]. 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. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/ A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. DOID:9145 ICD10CM:C95.90 ICD9CM:208 ICDO:9800/3 MESH:D007938 NCI:C3161 SNOMEDCT_US_2023_03_01:255049003 UMLS_CUI:C0023418 disease_ontology DOID:1240 leukemia 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 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. ICD10CM:F63.2 ICD9CM:312.32 MESH:D007174 NCI:C94333 SNOMEDCT_US_2023_03_01:69361009 UMLS_CUI:C0022734 Pathological stealing disease_ontology DOID:12400 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. url:https://en.wikipedia.org/wiki/Kleptomania An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. DOID:9404 ICD10CM:F60.3 ICD10CM:F63.81 ICD9CM:301.3 ICD9CM:312.34 MESH:D007174 NCI:C94332 SNOMEDCT_US_2023_03_01:192096007 SNOMEDCT_US_2023_03_01:268757006 UMLS_CUI:C0021776 UMLS_CUI:C0152183 explosive personality disorder disease_ontology DOID:12401 intermittent explosive disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. url:https://en.wikipedia.org/wiki/Intermittent_explosive_disorder An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. ICD10CM:F63.1 ICD9CM:312.33 MESH:D005391 NCI:C94334 SNOMEDCT_US_2023_03_01:600009 UMLS_CUI:C0016142 Pathological firesetting firesetting behavior disease_ontology DOID:12402 pyromania An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. url:https://en.wikipedia.org/wiki/Pyromania A vulva cancer that is located_in the labium minora. ICD10CM:C51.1 ICD9CM:184.2 NCI:C7637 SNOMEDCT_US_2023_03_01:93851005 UMLS_CUI:C0496815 malignant neoplasm of labia minora malignant neoplasm of labium minus malignant tumor of Labia Minora disease_ontology DOID:1243 labia minora cancer A vulva cancer that is located_in the labium minora. url:https://www.ncbi.nlm.nih.gov/pubmed/13103721 url:https://www.ncbi.nlm.nih.gov/pubmed/24113413 An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. GARD:5836 ICD10CM:D61.9 ICD9CM:284.9 MESH:D000741 NCI:C2870 OMIM:609135 SNOMEDCT_US_2023_03_01:154807001 UMLS_CUI:C0002874 disease_ontology DOID:12449 OMIM mapping confirmed by DO. [SN]. aplastic anemia 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/ A female reproductive organ cancer that is located_in the vulva. DOID:1282 GARD:9349 ICD10CM:C51 ICD9CM:184.4 MESH:D014846 NCI:C3443 NCI:C7502 SNOMEDCT_US_2023_03_01:126922007 SNOMEDCT_US_2023_03_01:94143002 UMLS_CUI:C0042995 UMLS_CUI:C0375071 Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm disease_ontology DOID:1245 vulva cancer A female reproductive organ cancer that is located_in the vulva. url:https://en.wikipedia.org/wiki/Vulvar_cancer An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. ICD10CM:D61.81 ICD9CM:284.1 MESH:D010198 NCI:C34889 SNOMEDCT_US_2023_03_01:127034005 UMLS_CUI:C0030312 disease_ontology DOID:12450 pancytopenia MESH:D010198 An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. url:https://en.wikipedia.org/wiki/Pancytopenia MESH:D006962 NCI:C113335 SNOMEDCT_US_2023_03_01:91478007 UMLS_CUI:C0020503 disease_ontology DOID:12466 secondary hyperparathyroidism A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. DOID:13997 DOID:2212 DOID:9474 ICD10CM:D68.9 ICD9CM:286 MESH:D001778 NCI:C2902 SNOMEDCT_US_2023_03_01:64779008 UMLS_CUI:C0005779 coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery inherited blood coagulation disease disease_ontology DOID:1247 blood coagulation disease A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx ICD10CM:G52.2 ICD9CM:352.3 MESH:D020421 NCI:C27591 SNOMEDCT_US_2023_03_01:73765005 UMLS_CUI:C0152179 Vagus nerve disorder disorder of pneumogastric [10th] nerve disorder of vagal nerve disorder of vagus nerve disease_ontology DOID:12491 Vagus nerve disease A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. NCI:C6373 UMLS_CUI:C1336939 leiomyoma of vagina disease_ontology DOID:125 vagina leiomyoma A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 MESH:D012167 NCI:C50732 SNOMEDCT_US_2023_03_01:40024006 UMLS_CUI:C0035321 Retinal break Retinal dialysis Retinal tear disease_ontology DOID:12514 retinal perforation 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. GARD:10720 MESH:D014257 NCI:C128399 SNOMEDCT_US_2023_03_01:60570001 UMLS_CUI:C0040954 Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection disease_ontology DOID:1252 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. url:http://en.wikipedia.org/wiki/Trichuriasis url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm 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. ICD10CM:J67.1 ICD9CM:495.1 MESH:D011009 NCI:C34409 SNOMEDCT_US_2023_03_01:67242002 UMLS_CUI:C0004681 sugar cane worker pneumonitis disease_ontology DOID:12522 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. url:http://www.merriam-webster.com/medical/bagassosis GARD:7733 ICD10CM:G57.5 ICD9CM:355.5 MESH:D013641 NCI:C85183 SNOMEDCT_US_2023_03_01:155077008 UMLS_CUI:C0039319 disease_ontology DOID:12526 tarsal tunnel syndrome A blood coagulation 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. GARD:7867 ICD10CM:D68.0 ICD9CM:286.4 MESH:D014842 NCI:C68677 SNOMEDCT_US_2023_03_01:11093006 UMLS_CUI:C0042974 vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease disease_ontology DOID:12531 OMIM mapping confirmed by DO. [SN]. von Willebrand's disease A blood coagulation 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 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 MESH:D006506 NCI:C3096 SNOMEDCT_US_2023_03_01:40468003 UMLS_CUI:C0019159 Viral hepatitis, type A disease_ontology Viral hepatitis A DOID:12549 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. url:http://www.cdc.gov/hepatitis/HAV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. GARD:6588 ICD10CM:D59.3 ICD9CM:283.11 MESH:D006463 NCI:C75545 ORDO:2134 SNOMEDCT_US_2023_03_01:123308008 UMLS_CUI:C0019061 haemolytic-uraemic syndrome hemolytic uremic syndrome disease_ontology DOID:12554 Xref MGI. hemolytic-uremic syndrome A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. url:https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1367/ url:https://www.ncbi.nlm.nih.gov/pubmed/15728781 An acute kidney failure that is characterized by necrosis of epithelial tubule cells. ICD10CM:N17.0 MESH:D007683 NCI:C34749 SNOMEDCT_US_2023_03_01:23697004 UMLS_CUI:C0022672 ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis disease_ontology DOID:12556 acute kidney tubular necrosis An acute kidney failure that is characterized by necrosis of epithelial tubule cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/ ICD10CM:H50.81 ICD9CM:378.71 MESH:D004370 NCI:C84678 OMIM:126800 OMIM:604356 ORDO:233 SNOMEDCT_US_2023_03_01:60318001 UMLS_CUI:C0013261 Duane's syndrome Stilling-Turk-Duane syndrome disease_ontology DOID:12557 OMIM mapping confirmed by DO. [SN]. Duane retraction syndrome ICD10CM:P72.1 ICD9CM:775.3 NCI:C114906 SNOMEDCT_US_2023_03_01:13795004 UMLS_CUI:C0158983 disease_ontology DOID:12573 neonatal thyrotoxicosis GARD:4457 MESH:D015866 NCI:C35111 SNOMEDCT_US_2023_03_01:46627006 UMLS_CUI:C0042167 Uveitis, posterior disease_ontology DOID:12574 posterior uveitis MESH:D014524 NCI:C79804 SNOMEDCT_US_2023_03_01:95588004 UMLS_CUI:C0041972 Obstruction of urethra disease_ontology DOID:12577 urethral obstruction A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. GARD:6213 ICD10CM:Q93.4 ICD9CM:758.31 MESH:D003410 NCI:C34518 OMIM:123450 SNOMEDCT_US_2023_03_01:70173007 UMLS_CUI:C0010314 5p deletion syndrome 5p partial monosomy syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome disease_ontology DOID:12580 OMIM mapping confirmed by DO. [SN]. Cri-Du-Chat syndrome A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. url:https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome url:https://www.genome.gov/Genetic-Disorders/Cri-du-Chat A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. GARD:4462 ICD10CM:Q60.6 NCI:C40435 SNOMEDCT_US_2023_03_01:41962002 UMLS_CUI:C0178426 Potter sequence Potter syndrome disease_ontology DOID:12594 Potter's syndrome A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. url:http://en.wikipedia.org/wiki/Potter_Syndrome url:https://en.wikipedia.org/wiki/Potter_sequence url:https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. DOID:12621 ICD10CM:C95.00 ICD9CM:208.0 ICDO:9801/3 NCI:C9300 OMIM:308960 SNOMEDCT_US_2023_03_01:24072005 UMLS_CUI:C0085669 UMLS_CUI:C1378511 Stem cell Leukemia Stem cell leukaemia disease_ontology DOID:12603 acute leukemia A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. url:http://en.wikipedia.org/wiki/Acute_leukemia url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. ICD10CM:Q40.0 ICD9CM:750.5 MESH:D046248 NCI:C98952 OMIM:179010 OMIM:300711 OMIM:610260 OMIM:612017 OMIM:612525 SNOMEDCT_US_2023_03_01:48644003 UMLS_CUI:C0700639 congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus disease_ontology DOID:12638 Xref MGI. hypertrophic pyloric stenosis 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 ICD10CM:K31.1 MESH:D011707 NCI:C34966 SNOMEDCT_US_2023_03_01:367403001 UMLS_CUI:C0034194 disease_ontology DOID:12639 pyloric stenosis ICD10CM:K44 MESH:D006551 NCI:C98945 OMIM:142400 SNOMEDCT_US_2023_03_01:236053002 SNOMEDCT_US_2023_03_01:3662000 SNOMEDCT_US_2023_03_01:84089009 UMLS_CUI:C0267725 UMLS_CUI:C0376710 UMLS_CUI:C3489393 Diaphragmatic - hiatus -hernia hiatal hernia disease_ontology DOID:12642 OMIM mapping confirmed by DO. [SN]. hiatus hernia ICD10CM:H93.3 ICD9CM:388.5 MESH:D000160 NCI:C27207 SNOMEDCT_US_2023_03_01:77949003 UMLS_CUI:C0001163 acoustic nerve disease disease_ontology DOID:12657 vestibulocochlear nerve disease 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. GARD:7323 ICD10CM:B41 ICD9CM:116.1 MESH:D010229 NCI:C34891 SNOMEDCT_US_2023_03_01:59925007 UMLS_CUI:C0030409 Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis disease_ontology DOID:12662 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. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ 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. DOID:13067 GARD:5931 ICD10CM:B40 ICD9CM:116.0 MESH:D001759 NCI:C34428 SNOMEDCT_US_2023_03_01:266217003 UMLS_CUI:C0005716 Blastomyces Dermatitidis Infection Blastomycotic infection Chicago disease Gilchrist's disease Infection by Blastomyces dermatitidis North American blastomycosis disease_ontology DOID:12663 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 DOID:12671 ICD10CM:H53.30 ICD9CM:368.30 NCI:C34422 SNOMEDCT_US_2023_03_01:83275001 UMLS_CUI:C0005461 simultaneous visual perception without fusion disease_ontology DOID:12667 binocular vision disease GARD:7177 MESH:D009397 NCI:C84918 SNOMEDCT_US_2023_03_01:154752005 UMLS_CUI:C0027709 disease_ontology DOID:12679 nephrocalcinosis A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. ICD9CM:335.23 MESH:D020828 NCI:C129934 SNOMEDCT_US_2023_03_01:7379000 UMLS_CUI:C0033790 pseudobulbar paralysis disease_ontology DOID:12680 pseudobulbar palsy A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. url:https://en.wikipedia.org/wiki/Corticobulbar_tract url:https://en.wikipedia.org/wiki/Pseudobulbar_palsy A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. ICD10CM:F80.2 ICD9CM:315.32 NCI:C92563 SNOMEDCT_US_2023_03_01:25766007 UMLS_CUI:C0236827 disease_ontology DOID:12685 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. url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder GARD:223 MESH:D009464 NCI:C3276 SNOMEDCT_US_2023_03_01:269643009 UMLS_CUI:C0027859 Vestibular Neurilemmoma Vestibular schwannoma disease_ontology DOID:12689 acoustic neuroma A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. ICD10CM:N62 MESH:D006177 NCI:C3073 SNOMEDCT_US_2023_03_01:155963008 UMLS_CUI:C0018418 disease_ontology DOID:12698 gynecomastia A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. url:https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia url:https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793 A cell type benign neoplasm that is a benign tumor of smooth muscle cells. ICDO:8890/0 MESH:D007889 NCI:C3157 SNOMEDCT_US_2023_03_01:1162890002 UMLS_CUI:C0023267 leiomyomatous neoplasm leiomyomatous tumor disease_ontology DOID:127 leiomyoma 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 A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. GARD:6626 ICD10CM:I78.0 ICD9CM:448.0 MESH:D013683 NCI:C35064 OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506 ORDO:774 SNOMEDCT_US_2023_03_01:266324004 UMLS_CUI:C0039445 Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease disease_ontology DOID:1270 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary hemorrhagic telangiectasia A vascular 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/ An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. GARD:5862 MESH:D001260 NCI:C2887 OMIM:208900 SNOMEDCT_US_2023_03_01:68504005 UMLS_CUI:C0004135 Boder-Sedgwick syndrome Louis Bar syndrome disease_ontology DOID:12704 OMIM mapping confirmed by DO. [SN]. ataxia telangiectasia MESH:D001260 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia DOID:0050555 GARD:6468 ICD10CM:G11.11 ICD9CM:334.0 MESH:D005621 NCI:C84718 SNOMEDCT_US_2023_03_01:155011003 UMLS_CUI:C0016719 Friedreich's ataxia Friedreich's tabes disease_ontology DOID:12705 Xref MGI. Friedreich ataxia MESH:D005621 A kidney 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). GARD:206 ICD10CM:Q61.5 NCI:C123200 OMIM:PS256100 ORDO:655 SNOMEDCT_US_2023_03_01:204958008 UMLS_CUI:C0687120 medullary cystic disease medullary cystic kidney disease_ontology DOID:12712 Xref MGI. OMIM mapping confirmed by DO. [SN]. nephronophthisis A kidney 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/ A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. GARD:1301 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 NCI:C84684 OMIM:225500 SNOMEDCT_US_2023_03_01:62501005 UMLS_CUI:C0013903 Chondroectodermal dysplasia mesoectodermal dysplasia disease_ontology DOID:12714 OMIM mapping confirmed by DO. [SN]. Ellis-Van Creveld syndrome A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. url:https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10700184 MESH:D013684 NCI:C28194 SNOMEDCT_US_2023_03_01:112641009 UMLS_CUI:C0039446 telangiectasia disease_ontology DOID:1272 telangiectasis ICD10CM:I67.2 ICD9CM:437.0 MESH:D002537 NCI:C34459 SNOMEDCT_US_2023_03_01:266258005 UMLS_CUI:C0007775 disease_ontology DOID:12720 cerebral atherosclerosis 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. MESH:D018357 NCI:C3354 SNOMEDCT_US_2023_03_01:186750007 UMLS_CUI:C0035235 RSV respiratory syncytial virus disease_ontology DOID:1273 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. url:http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g GARD:7339 ICD10CM:H30.2 ICD9CM:363.21 MESH:D015868 NCI:C34903 OMIM:606177 SNOMEDCT_US_2023_03_01:193452008 UMLS_CUI:C0030593 Posterior cyclitis disease_ontology DOID:12731 OMIM mapping confirmed by DO. [SN]. pars planitis MESH:D015867 NCI:C35110 SNOMEDCT_US_2023_03_01:314429009 UMLS_CUI:C0042166 chronic cyclitis peripheral uveoretinitis disease_ontology DOID:12732 intermediate uveitis ICD9CM:190.7 NCI:C3567 SNOMEDCT_US_2023_03_01:93852003 UMLS_CUI:C0153631 malignant neoplasm of lacrimal duct malignant tumor of lacrimal duct disease_ontology DOID:12756 lacrimal duct cancer DOID:12760 ICD10CM:C69.3 ICD9CM:190.6 MESH:D002830 NCI:C2949 NCI:C3566 SNOMEDCT_US_2023_03_01:127001008 SNOMEDCT_US_2023_03_01:93755007 UMLS_CUI:C0008523 UMLS_CUI:C0153630 Choroidal tumor choroid neoplasm malignant tumor of choroid malignant tumor of the Choroid neoplasm of choroid disease_ontology DOID:12759 choroid cancer GARD:7777 MESH:D020333 NCI:C85193 SNOMEDCT_US_2023_03_01:75111000 UMLS_CUI:C0040381 disease_ontology DOID:1278 tolosa-hunt syndrome A migraine that is characterized by migraine headaches that are not accompanied by an aura. ICD10CM:G43.0 ICD9CM:346.1 MESH:D020326 NCI:C117004 OMIM:607501 SNOMEDCT_US_2023_03_01:56097005 UMLS_CUI:C0338480 common migraine disease_ontology DOID:12783 Xref MGI. migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura. url:http://en.wikipedia.org/wiki/Migraine A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. DOID:14716 GARD:7065 ICD10CM:E76.3 ICD9CM:277.5 MESH:D009083 NCI:C61259 OMIM:PS607014 ORDO:79213 SNOMEDCT_US_2023_03_01:267452003 UMLS_CUI:C0026703 disease_ontology DOID:12798 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis A lysosomal storage disease that involves the 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 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. GARD:6675 ICD10CM:E76.1 MESH:D016532 NCI:C61260 OMIM:309900 SNOMEDCT_US_2023_03_01:190936000 UMLS_CUI:C0026705 Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase disease_ontology DOID:12799 OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. url:http://en.wikipedia.org/wiki/Hunter_syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. GARD:7095 MESH:D009087 NCI:C61264 OMIM:253200 SNOMEDCT_US_2023_03_01:69463008 UMLS_CUI:C0026709 MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase disease_ontology DOID:12800 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis VI A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. DOID:14729 DOID:14788 MESH:D009084 NCI:C61262 OMIM:252940 ORDO:581 SNOMEDCT_US_2023_03_01:190936000 UMLS_CUI:C0026706 Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency naglu deficiency disease_ontology DOID:12801 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis III 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 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. GARD:10335 ICD10CM:E76.0 MESH:D008059 NCI:C85053 SNOMEDCT_US_2023_03_01:267453008 UMLS_CUI:C0023786 Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease disease_ontology DOID:12802 mucopolysaccharidosis I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. ICD10CM:E76.29 MESH:D016538 NCI:C84903 OMIM:253220 SNOMEDCT_US_2023_03_01:43916004 UMLS_CUI:C0085132 MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII disease_ontology DOID:12803 OMIM mapping confirmed by DO. [SN]. Sly syndrome 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 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:0050808 DOID:14767 ICD10CM:E76.219 MESH:D009085 NCI:C61263 SNOMEDCT_US_2023_03_01:378007 UMLS_CUI:C0026707 Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency Osteochondrodystrophy chondroosteodystrophy disease_ontology DOID:12804 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Morquio_syndrome ICD10CM:G82.5 ICD9CM:344.00 MESH:D011782 NCI:C50721 SNOMEDCT_US_2023_03_01:11538006 UMLS_CUI:C0034372 tetraplegia disease_ontology DOID:12835 quadriplegia MESH:D013958 NCI:C112836 SNOMEDCT_US_2023_03_01:190262002 UMLS_CUI:C0040127 Thyrotoxic crisis disease_ontology DOID:12837 thyroid crisis 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. GARD:9742 ICD10CM:B76.0 MESH:D000724 NCI:C35805 SNOMEDCT_US_2023_03_01:85807000 UMLS_CUI:C0002831 disease_ontology DOID:12841 ancylostomiasis MESH:D000724 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 An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. GARD:6554 ICD10CM:G61.0 MESH:D020275 NCI:C116345 OMIM:139393 SNOMEDCT_US_2023_03_01:155082001 UMLS_CUI:C0018378 Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy disease_ontology DOID:12842 OMIM mapping confirmed by DO. [SN]. Guillain-Barre syndrome 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 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. EFO:0003758 ICD10CM:F84.0 ICD9CM:299.0 MESH:D001321 NCI:C97161 OMIM:209850 ORDO:106 SNOMEDCT_US_2023_03_01:38763009 UMLS_CUI:C0004352 Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism disease_ontology DOID:12849 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Autism url:http://www.neurodevnet.ca 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. GARD:6677 ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MESH:D006816 NCI:C82342 OMIM:143100 SNOMEDCT_US_2023_03_01:58756001 UMLS_CUI:C0020179 HD Huntington disease Huntington's chorea disease_ontology DOID:12858 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. 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 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:73 ICD9CM:429.2 MESH:D002318 NCI:C2931 SNOMEDCT_US_2023_03_01:266275004 UMLS_CUI:C0007222 disease of subdivision of hemolymphoid system disease_ontology DOID:1287 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. url:http://en.wikipedia.org/wiki/Circulatory_system A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. ICD10CM:F45.21 ICD9CM:300.7 MESH:D006998 NCI:C9493 SNOMEDCT_US_2023_03_01:18193002 UMLS_CUI:C0020604 Hypochondria Hypochondriacal disorder hypochondriacal neurosis disease_ontology DOID:12883 hypochondriasis A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. url:http://en.wikipedia.org/wiki/Hypochondriasis 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. GARD:3668 ICD10CM:G61.0 MESH:D019846 NCI:C116958 SNOMEDCT_US_2023_03_01:1767005 UMLS_CUI:C0393799 Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome disease_ontology DOID:12889 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. url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification A central nervous system disease that results in the progressive deterioration of function or structure of neurons. DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI:C27090 SNOMEDCT_US_2023_03_01:362975008 UMLS_CUI:C0524851 UMLS_CUI:C1285162 degenerative disease disease_ontology DOID:1289 neurodegenerative disease 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 An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. DOID:416 GARD:10252 ICD10CM:M35.0 ICD9CM:710.2 MESH:D012859 NCI:C26883 NCI:C70647 OMIM:270150 SNOMEDCT_US_2023_03_01:267875002 SNOMEDCT_US_2023_03_01:83901003 UMLS_CUI:C0086981 UMLS_CUI:C1527336 Sicca syndrome Sjogren syndrome xerodermosteosis disease_ontology DOID:12894 OMIM mapping confirmed by DO. [LS]. Sjogren's syndrome An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome ls:IEDB ICD10CM:K11.8 NCI:C3949 SNOMEDCT_US_2023_03_01:45517002 UMLS_CUI:C0266995 Godwin tumor disease_ontology DOID:12899 benign lymphoepithelial lesion of salivary gland An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. GARD:7043 ICD10CM:K11.8 MESH:D008882 NCI:C34819 SNOMEDCT_US_2023_03_01:7826003 UMLS_CUI:C0026103 IgG4-related dacryoadenitis and sialadenitis Mikulicz's disease disease_ontology DOID:12900 Mikulicz disease An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. url:https://rarediseases.org/rare-diseases/mikulicz-syndrome/ ICD10CM:K11.6 ICD9CM:527.6 NCI:C27649 SNOMEDCT_US_2023_03_01:196508008 UMLS_CUI:C0026686 Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele disease_ontology DOID:12904 mucocele of salivary gland ICD10CM:I73.1 ICD9CM:443.1 MESH:D013919 NCI:C35070 OMIM:211480 SNOMEDCT_US_2023_03_01:195298008 UMLS_CUI:C0040021 Buerger's disease Presenile gangrene disease_ontology DOID:12918 OMIM mapping confirmed by DO. [LS]. thromboangiitis obliterans 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. GARD:2121 GARD:6336 ICD10CM:I42.4 ICD9CM:425.3 MESH:D004695 NCI:C98922 OMIM:226000 SNOMEDCT_US_2023_03_01:65457005 UMLS_CUI:C0014117 Elastomyofibrosis disease_ontology DOID:12929 OMIM mapping confirmed by DO. [SN]. endocardial fibroelastosis MESH:D004695 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 A vulva carcinoma that is located_in the labia minora. NCI:C9364 UMLS_CUI:C1334357 Labia Minora cancer disease_ontology carcinoma of labia minora DOID:1293 labia minora carcinoma A vulva carcinoma that is located_in the labia minora. url:https://www.ncbi.nlm.nih.gov/pubmed/13733610 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. EFO:0000407 GARD:221 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 SNOMEDCT_US_2023_03_01:74368002 UMLS_CUI:C0007193 primary dilated cardiomyopathy disease_ontology Congestive cardiomyopathy Familial dilated cardiomyopathy Idiopathic dilation cardiomyopathy DOID:12930 Xref MGI. OMIM mapping confirmed by DO. [LS]. dilated cardiomyopathy An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy Familial dilated cardiomyopathy MESH:C536231 Idiopathic dilation cardiomyopathy MESH:C536277 GARD:6340 ICD9CM:425.0 MESH:D004719 NCI:C34585 SNOMEDCT_US_2023_03_01:111507009 UMLS_CUI:C0553980 African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy disease_ontology DOID:12932 endomyocardial fibrosis GARD:6817 ICD10CM:H49.81 MESH:D007625 NCI:C84798 OMIM:530000 SNOMEDCT_US_2023_03_01:25792000 UMLS_CUI:C0022541 disease_ontology DOID:12934 OMIM mapping confirmed by DO. [SN]. Kearns-Sayre syndrome ICD10CM:I42.6 ICD9CM:425.5 MESH:D002310 NCI:C53653 SNOMEDCT_US_2023_03_01:83521008 UMLS_CUI:C0007192 Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol disease_ontology DOID:12935 alcoholic cardiomyopathy A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4866 UMLS_CUI:C0677055 Vulvar carcinoma disease_ontology carcinoma of vulva DOID:1294 vulva carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.gov/cancertopics/types/vulvar A synostosis that results_in craniosynostosis and syndactyly. DOID:0080004 ICD9CM:755.55 MESH:D000168 NCI:C34348 OMIM:101200 SNOMEDCT_US_2023_03_01:63661009 UMLS_CUI:C1510455 Apert syndrome disease_ontology DOID:12960 OMIM mapping confirmed by DO. [SN]. acrocephalosyndactylia MESH:D000168 A synostosis that results_in craniosynostosis and syndactyly. url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. GARD:7412 ICD10CM:Q79.8 MESH:D011045 NCI:C85017 OMIM:173800 SNOMEDCT_US_2023_03_01:205524002 UMLS_CUI:C0032357 Poland's syndactyly disease_ontology DOID:12961 OMIM mapping confirmed by DO. [SN]. Poland syndrome A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. url:https://pubmed.ncbi.nlm.nih.gov/25831684 A hematologic cancer located_in the central nervous system. NCI:C5440 UMLS_CUI:C1332884 Leukemia of the CNS disease_ontology DOID:12969 central nervous system leukemia A hematologic cancer located_in the central nervous system. url:http://www.springerlink.com/content/gl61tx644217n938/ A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. GARD:6639 ICD10CM:D58.0 ICD9CM:282.0 MESH:D013103 NCI:C97074 ORDO:822 SNOMEDCT_US_2023_03_01:154795009 UMLS_CUI:C0037889 Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia disease_ontology DOID:12971 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis url:https://research.nhgri.nih.gov/RBCmembrane/ A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. ICD10CM:B51 ICD9CM:084.1 MESH:D016780 NCI:C34800 SNOMEDCT_US_2023_03_01:27052006 UMLS_CUI:C0024537 Malaria by Plasmodium vivax Vivax Malaria disease_ontology DOID:12978 Plasmodium 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 NCI:C5831 SNOMEDCT_US_2023_03_01:126976007 UMLS_CUI:C1263901 Vagus nerve tumors neoplasm of vagus nerve disease_ontology DOID:12984 vagus nerve neoplasm MESH:D018921 NCI:C4062 SNOMEDCT_US_2023_03_01:30419000 UMLS_CUI:C0282548 disease_ontology DOID:12986 leukostasis A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. EFO:0004216 ICD10CM:F91 ICD9CM:312.9 MESH:D019955 NCI:C89329 SNOMEDCT_US_2023_03_01:430909002 UMLS_CUI:C0149654 disease_ontology DOID:12995 conduct disorder 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 MESH:D016893 NCI:C95804 SNOMEDCT_US_2023_03_01:195181000 UMLS_CUI:C0007282 Carotid artery stenosis Stenosis, carotid artery disease_ontology DOID:13001 carotid stenosis ICD9CM:435.2 MESH:D013349 NCI:C35044 SNOMEDCT_US_2023_03_01:15258001 UMLS_CUI:C0038531 Subclavian artery stenosis subclavian steal phenomenon subclavian steal steno-occlusive disease disease_ontology DOID:13002 subclavian steal syndrome ICD10CM:B30.0 ICD9CM:077.1 NCI:C34590 SNOMEDCT_US_2023_03_01:60548004 UMLS_CUI:C0014493 EKC Epidemic keratoconjunctivitis disease_ontology DOID:13014 shipyard eye GARD:5695 ICD10CM:H35.1 ICD9CM:362.21 MESH:D012178 NCI:C34982 SNOMEDCT_US_2023_03_01:155110004 UMLS_CUI:C0035344 Retrolental fibroplasia premature retinopathy disease_ontology DOID:13025 retinopathy of prematurity An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. GARD:8172 ICD10CM:G45.4 ICD9CM:437.7 MESH:D020236 NCI:C85198 SNOMEDCT_US_2023_03_01:366963000 UMLS_CUI:C0338591 disease_ontology DOID:13027 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. url:http://en.wikipedia.org/wiki/Transient_global_amnesia ICD10CM:N48.1 MESH:D001446 NCI:C26705 SNOMEDCT_US_2023_03_01:155928003 UMLS_CUI:C0004690 disease_ontology DOID:13033 balanitis 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. ICD10CM:A68.0 ICD9CM:087.0 MESH:D012061 NCI:C128426 SNOMEDCT_US_2023_03_01:14683004 UMLS_CUI:C0152061 Relapsing fever, louse-borne disease_ontology DOID:13035 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. url:https://www.ncbi.nlm.nih.gov/pubmed/30869050 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. ICD10CM:A68.1 ICD9CM:087.1 NCI:C34976 SNOMEDCT_US_2023_03_01:10301003 UMLS_CUI:C0035022 Relapsing fever, tick-borne soft tick relapsing fever disease_ontology DOID:13036 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. url:http://en.wikipedia.org/wiki/Relapsing_fever ICD10CM:P29.3 ICD9CM:747.83 MESH:D010547 NCI:C85006 OMIM:265380 SNOMEDCT_US_2023_03_01:35604006 UMLS_CUI:C0031190 Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn disease_ontology DOID:13042 OMIM mapping confirmed by DO. [SN]. persistent fetal circulation syndrome ICD10CM:N25.0 ICD9CM:588.0 MESH:D012080 NCI:C114827 SNOMEDCT_US_2023_03_01:266617009 UMLS_CUI:C0035086 renal rickets disease_ontology DOID:13068 renal osteodystrophy ICD9CM:701.1 NCI:C34746 SNOMEDCT_US_2023_03_01:20637002 UMLS_CUI:C0022581 Keratoderma - acquired Keratoderma, acquired acquired keratoderma disease_ontology DOID:13072 acquired hyperkeratosis 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. ICD10CM:B47 MESH:D008271 NCI:C85505 SNOMEDCT_US_2023_03_01:410039003 UMLS_CUI:C0024449 Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis disease_ontology DOID:13078 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. url:http://en.wikipedia.org/wiki/Maduromycosis url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html NCI:C8540 SNOMEDCT_US_2023_03_01:93473009 UMLS_CUI:C0685200 Angioma of the Subcutaneous tissue Subcutaneous haemangioma Subcutaneous hemangioma disease_ontology DOID:13081 hemangioma of subcutaneous tissue GARD:10285 ICD10CM:P91.2 ICD9CM:779.7 MESH:D007969 NCI:C99013 SNOMEDCT_US_2023_03_01:230769007 UMLS_CUI:C0023529 disease_ontology DOID:13088 periventricular leukomalacia ICD10CM:H34.23 ICD9CM:362.32 MESH:D015356 NCI:C34436 SNOMEDCT_US_2023_03_01:50821009 UMLS_CUI:C0006123 Arterial retinal branch occlusion retinal arterial branch occlusion disease_ontology DOID:13094 branch retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. ICD10CM:H34.1 ICD9CM:362.31 MESH:D015356 NCI:C34456 SNOMEDCT_US_2023_03_01:38742007 UMLS_CUI:C0007688 disease_ontology DOID:13098 central retinal artery occlusion 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 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. GARD:7064 ICD10CM:I67.5 ICD9CM:437.5 MESH:D009072 NCI:C84895 OMIM:252350 OMIM:300845 OMIM:607151 OMIM:608796 OMIM:614042 OMIM:615750 ORDO:2573 ORDO:280679 ORDO:401945 SNOMEDCT_US_2023_03_01:69116000 UMLS_CUI:C0026654 progressive intracranial arterial occlusion disease_ontology DOID:13099 Xref MGI. OMIM mapping confirmed by DO. [SN]. Moyamoya disease MESH:D009072 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 A bladder benign neoplasm that derives_from smooth muscle cells. NCI:C6178 UMLS_CUI:C1332560 leiomyoma of the urinary bladder disease_ontology DOID:13109 bladder leiomyoma A bladder benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/ NCI:C39834 UMLS_CUI:C1511199 disease_ontology DOID:13110 bladder squamous papilloma A nail disease characterized by 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. DOID:11398 DOID:9689 ICD10CM:L03.0 MESH:D010304 NCI:C79702 SNOMEDCT_US_2023_03_01:267830000 UMLS_CUI:C0030578 Infected nailfold Onychia and paronychia of finger Onychia and paronychia of toe fungal nail infection disease_ontology paronychia inflammation DOID:13117 paronychia A nail disease characterized by 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 DOID:3945 EFO:0004236 GARD:6517 MESH:D005923 NCI:C37308 OMIM:PS603278 SNOMEDCT_US_2023_03_01:25821008 UMLS_CUI:C0017668 FGS FSGS focal glomerular sclerosis focal glomerulosclerosis disease_ontology DOID:1312 Xref MGI. OMIM mapping confirmed by DO. [SN]. focal segmental glomerulosclerosis A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. GARD:8528 ICD10CM:O14.2 MESH:D017359 NCI:C84750 SNOMEDCT_US_2023_03_01:95605009 UMLS_CUI:C0162739 disease_ontology DOID:13133 HELLP syndrome A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 url:https://www.ncbi.nlm.nih.gov/pubmed/25879992 A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. GARD:7883 ICD10CM:G12.0 ICD9CM:335.0 MESH:D014897 NCI:C98670 OMIM:253300 SNOMEDCT_US_2023_03_01:64383006 UMLS_CUI:C0043116 HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy disease_ontology DOID:13137 OMIM mapping confirmed by DO. [SN]. Werdnig-Hoffmann disease A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541 NCI:C128143 SNOMEDCT_US_2023_03_01:45406000 UMLS_CUI:C0403416 disease_ontology DOID:13139 crescentic glomerulonephritis An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. ICD10CM:H20.9 MESH:D014605 NCI:C26909 SNOMEDCT_US_2023_03_01:267719008 UMLS_CUI:C0042164 disease_ontology DOID:13141 uveitis An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. url:https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734 ICD9CM:405.1 NCI:C3658 SNOMEDCT_US_2023_03_01:44111003 UMLS_CUI:C0155620 disease_ontology DOID:13143 benign secondary hypertension A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. ICD10CM:B37.81 ICD9CM:112.84 NCI:C27027 SNOMEDCT_US_2023_03_01:20639004 UMLS_CUI:C0239295 Candida Esophagitis Candidal esophagitis Candidiasis of the esophagus esophageal moniliasis esophageal thrush disease_ontology DOID:13146 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. url:http://en.wikipedia.org/wiki/Esophageal_candidiasis NCI:C27107 SNOMEDCT_US_2023_03_01:235602008 UMLS_CUI:C0341109 disease_ontology DOID:13147 fungal esophagitis A cystitis characterized by a sudden onset or severe symptoms. ICD10CM:N30.0 ICD9CM:595.0 NCI:C26934 SNOMEDCT_US_2023_03_01:197833009 UMLS_CUI:C0149523 disease_ontology DOID:13148 acute cystitis A cystitis characterized by a sudden onset or severe symptoms. url:http://en.wikipedia.org/wiki/Urinary_tract_infection A squamous cell carcinoma that is located_in the scrotum. NCI:C4643 SNOMEDCT_US_2023_03_01:276860003 UMLS_CUI:C0349551 Scrotal squamous cell carcinoma disease_ontology DOID:13159 scrotum squamous cell carcinoma A squamous cell carcinoma that is located_in the scrotum. url:https://www.ncbi.nlm.nih.gov/pubmed/26113906 NCI:C7361 UMLS_CUI:C1331544 melanoma of scrotum disease_ontology DOID:13160 scrotum melanoma 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. GARD:602 ICD10CM:B44.81 ICD9CM:518.6 MESH:D001229 NCI:C84547 OMIM:103920 SNOMEDCT_US_2023_03_01:37981002 UMLS_CUI:C0004031 pulmonary aspergillus disease disease_ontology DOID:13166 OMIM mapping confirmed by DO. [SN]. 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. url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm ls:IEDB ICD10CM:C63.1 ICD9CM:187.6 NCI:C3559 SNOMEDCT_US_2023_03_01:94065000 UMLS_CUI:C0153603 Spermatic cord Ca malignant tumor of spermatic cord malignant tumor of the Spermatic Cord disease_ontology DOID:13169 spermatic cord cancer MESH:D004931 NCI:C34811 SNOMEDCT_US_2023_03_01:70667005 UMLS_CUI:C0025164 disease_ontology DOID:13186 megaesophagus An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. DOID:14144 EFO:0004274 ICD10CM:M10 ICD9CM:274 ICD9CM:274.0 MESH:D006073 MESH:D015210 NCI:C34650 SNOMEDCT_US_2023_03_01:201661008 SNOMEDCT_US_2023_03_01:90560007 UMLS_CUI:C0003868 UMLS_CUI:C0018099 Articular gout Gouty arthropathy gouty arthritis disease_ontology DOID:13189 gout 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.nlm.nih.gov/medlineplus/ency/article/000422.htm A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 ICD10CM:C71 ICD9CM:191 ICD9CM:239.6 MESH:D001932 NCI:C170814 NCI:C2907 NCI:C3568 NCI:C5115 NCI:C7710 SNOMEDCT_US_2023_03_01:126952004 SNOMEDCT_US_2023_03_01:428061005 SNOMEDCT_US_2023_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain disease_ontology DOID:1319 brain cancer 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 ICD10CM:E04.9 NCI:C35271 SNOMEDCT_US_2023_03_01:267369002 UMLS_CUI:C0221777 Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre disease_ontology DOID:13195 nontoxic goiter MESH:D006044 NCI:C131437 SNOMEDCT_US_2023_03_01:237570007 UMLS_CUI:C0018023 Goiter, nodular nodular goitre disease_ontology DOID:13197 nodular goiter A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. ICD10CM:E01.2 ICD9CM:240.0 MESH:D006043 NCI:C35023 SNOMEDCT_US_2023_03_01:271949009 UMLS_CUI:C0018022 Iodine-deficiency-related endemic goitre simple goitre disease_ontology DOID:13198 endemic goiter A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. url:https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html ICD9CM:362.02 NCI:C84457 SNOMEDCT_US_2023_03_01:154679002 UMLS_CUI:C0154830 PDR disease_ontology DOID:13207 proliferative diabetic retinopathy ICD9CM:362.03 NCI:C35668 SNOMEDCT_US_2023_03_01:390834004 UMLS_CUI:C0004606 Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy disease_ontology DOID:13208 background diabetic retinopathy An uterine benign neoplasm derived from the smooth muscle layer of the uterus. EFO:0000731 ICD10CM:D25 ICD9CM:218 MESH:D007889 NCI:C3434 OMIM:150699 SNOMEDCT_US_2023_03_01:44598004 UMLS_CUI:C0042133 Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma disease_ontology DOID:13223 OMIM mapping confirmed by DO. [LS]. uterine fibroid An 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 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. EFO:0003780 GARD:848 ICD10CM:M35.2 ICD9CM:136.1 MESH:D001528 NCI:C34416 OMIM:109650 SNOMEDCT_US_2023_03_01:310701003 UMLS_CUI:C0004943 Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex disease_ontology Behcet's syndrome DOID:13241 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html NCI:C3241 SNOMEDCT_US_2023_03_01:53773002 UMLS_CUI:C0026684 Appendicele Mucocele disease_ontology DOID:13248 mucocele of appendix 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:3054 GARD:9564 ICD10CM:A01.0 ICD9CM:002.0 MESH:D014435 NCI:C35089 SNOMEDCT_US_2023_03_01:186091002 UMLS_CUI:C0041466 Typhoid disease_ontology DOID:13258 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 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. GARD:10353 ICD10CM:E80.20 ICD9CM:277.1 MESH:D011164 NCI:C97096 SNOMEDCT_US_2023_03_01:190912004 UMLS_CUI:C0032708 Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism disease_ontology DOID:13268 porphyria 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 GARD:6619 ICD10CM:E80.29 MESH:D046349 NCI:C84759 OMIM:121300 SNOMEDCT_US_2023_03_01:7425008 UMLS_CUI:C0162531 Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria disease_ontology DOID:13269 OMIM mapping confirmed by DO. [SN]. hereditary coproporphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. GARD:4527 ICD10CM:E80.0 MESH:D046351 NCI:C84698 OMIM:177000 OMIM:300752 ORDO:79278 SNOMEDCT_US_2023_03_01:51022005 UMLS_CUI:C0162568 EPP Protoporphyria disease_ontology DOID:13270 Xref MGI. OMIM mapping confirmed by DO. [SN]. erythropoietic protoporphyria 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 GARD:4446 ICD10CM:E80.0 MESH:D017092 NCI:C84697 OMIM:263700 SNOMEDCT_US_2023_03_01:67312003 UMLS_CUI:C0162530 Erythropoietic porphyria disease_ontology DOID:13271 OMIM mapping confirmed by DO. [SN]. cutaneous porphyria 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. ICD10CM:A92.4 MESH:D012295 NCI:C128419 SNOMEDCT_US_2023_03_01:7077006 UMLS_CUI:C0035613 disease_ontology DOID:1328 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. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm url:http://www.who.int/mediacentre/factsheets/fs207/en/ A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. NCI:C40255 UMLS_CUI:C1519926 vaginal Muellerian papilloma disease_ontology DOID:133 vaginal Mullerian papilloma A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. url:https://www.ncbi.nlm.nih.gov/pubmed/26948653 An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. GARD:7610 ICD10CM:M42.0 ICD9CM:732.0 MESH:D012544 NCI:C34999 OMIM:181440 SNOMEDCT_US_2023_03_01:53406005 UMLS_CUI:C0036310 Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease Scheuermann disease disease_ontology DOID:13300 OMIM mapping confirmed by DO. [SN]. Scheuermann's disease An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease NCI:C5717 UMLS_CUI:C1335310 disease_ontology DOID:13313 pancreatic mucinous ductal ectasia A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. ICD10CM:K86.81 MESH:D010188 NCI:C84316 SNOMEDCT_US_2023_03_01:47367009 UMLS_CUI:C0267963 EPI disease_ontology DOID:13316 exocrine pancreatic insufficiency A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. url:https://www.ncbi.nlm.nih.gov/books/NBK555926/ A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. DOID:9996 ICD10CM:E16.9 MESH:D046768 NCI:C4375 OMIM:PS256450 SNOMEDCT_US_2023_03_01:42681006 UMLS_CUI:C0027773 Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy disease_ontology DOID:13317 OMIM mapping confirmed by DO. [SN]. hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. GARD:10326 ICD10CM:P37.1 MESH:D014125 NCI:C50503 ORDO:858 SNOMEDCT_US_2023_03_01:268875000 UMLS_CUI:C0040560 Toxoplasmosis - congen. disease_ontology DOID:13336 congenital toxoplasmosis 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 ICD10CM:F65.4 ICD9CM:302.2 MESH:D010378 NCI:C94355 SNOMEDCT_US_2023_03_01:192516001 UMLS_CUI:C0030764 Paedophilia disease_ontology DOID:13351 pedophilia 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. DOID:14696 GARD:6322 ICD10CM:Q79.6 ICD9CM:756.83 MESH:D004535 NCI:C34568 OMIM:PS130000 SNOMEDCT_US_2023_03_01:268352002 UMLS_CUI:C0013720 Cutis hyperelastica elastic skin disease_ontology DOID:13359 OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. 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. url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html url:https://www.ehlers-danlos.com/what-is-eds/ url:https://www.ncbi.nlm.nih.gov/pubmed/23711271 A movement disease that is of unknown etiology characterized by progressive rigidity. GARD:5023 ICD10CM:G25.82 ICD9CM:333.91 MESH:D016750 NCI:C85170 OMIM:184850 SNOMEDCT_US_2023_03_01:5217008 UMLS_CUI:C0085292 Stiff-man syndrome stiff man syndrome disease_ontology DOID:13366 Stiff-Person syndrome A movement disease that is of unknown etiology characterized by progressive rigidity. url:http://en.wikipedia.org/wiki/Stiff_person_syndrome ls:IEDB 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. GARD:5784 ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 NCI:C84397 OMIM:613490 SNOMEDCT_US_2023_03_01:30188007 UMLS_CUI:C0221757 AAT deficiency disease_ontology DOID:13372 OMIM mapping confirmed by DO. [SN]. alpha 1-antitrypsin deficiency MESH:D019896 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 url:https://alpha1.org/what-is-alpha1/ url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency 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. GARD:6445 ICD10CM:M61.1 ICD9CM:728.11 MESH:D009221 NCI:C3040 OMIM:135100 ORDO:337 SNOMEDCT_US_2023_03_01:82725007 UMLS_CUI:C0016037 Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis disease_ontology DOID:13374 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. ICD9CM:446.5 MESH:D013700 NCI:C35065 OMIM:187360 ORDO:397 SNOMEDCT_US_2023_03_01:195354005 UMLS_CUI:C0039483 Horton's disease giant cell arteritis disease_ontology DOID:13375 OMIM mapping confirmed by DO. [LS]. temporal arteritis A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. url:https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758 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. EFO:0004246 GARD:6816 ICD10CM:M30.3 ICD9CM:446.1 MESH:D009080 NCI:C34825 OMIM:611775 SNOMEDCT_US_2023_03_01:75053002 UMLS_CUI:C0026691 Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome disease_ontology DOID:13378 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Kawasaki_disease 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. GARD:1999 ICD10CM:D64.4 MESH:D000742 NCI:C84646 OMIM:PS224120 ORDO:85 SNOMEDCT_US_2023_03_01:191272005 UMLS_CUI:C0002876 congenital dyshaematopoietic anaemia disease_ontology DOID:1338 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia url:http://www.ncbi.nlm.nih.gov/books/NBK5313/ A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. GARD:12671 ICD10CM:D51.0 ICD9CM:281.0 MESH:D000752 NCI:C2871 OMIM:170900 SNOMEDCT_US_2023_03_01:191139001 UMLS_CUI:C0002892 ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia disease_ontology DOID:13381 OMIM mapping confirmed by DO. [SN]. pernicious anemia A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. url:https://medlineplus.gov/ency/article/000569.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/ A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. ICD10CM:D53.1 MESH:D000749 NCI:C34382 OMIM:261100 OMIM:613839 SNOMEDCT_US_2023_03_01:191138009 UMLS_CUI:C0002888 Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1 disease_ontology IGS DOID:13382 Xref MGI. megaloblastic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. url:http://en.wikipedia.org/wiki/Megaloblastic_anemia A vulva carcinoma that is located_in the labia majora. NCI:C9363 UMLS_CUI:C1334356 Labia Majora cancer disease_ontology carcinoma of labia majora DOID:13389 labia majora carcinoma A vulva carcinoma that is located_in the labia majora. url:https://www.ncbi.nlm.nih.gov/pubmed/27917514 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. GARD:6274 ICD10CM:D61.01 MESH:D029503 NCI:C61236 OMIM:PS105650 ORDO:124 Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia disease_ontology DOID:1339 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. ICD10CM:H53.5 ICD9CM:368.5 MESH:D003117 NCI:C3891 SNOMEDCT_US_2023_03_01:193683001 UMLS_CUI:C0242225 BLINDNESS COLOR Colour blindness Colour vision deficiency disease_ontology DOID:13399 color blindness 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 A vaginal cancer that has_material_basis_in glandular tissue. NCI:C40250 UMLS_CUI:C1519921 disease_ontology DOID:134 vaginal glandular tumor A vaginal cancer that has_material_basis_in glandular tissue. url:https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447 GARD:7504 MESH:D012010 NCI:C34974 SNOMEDCT_US_2023_03_01:191252000 UMLS_CUI:C0034902 Red cell hypoplasia primary red cell aplasia pure red cell aplasia disease_ontology DOID:1340 pure red-cell aplasia ICD10CM:D86.3 NCI:C34996 SNOMEDCT_US_2023_03_01:55941000 UMLS_CUI:C0036203 Cutaneous sarcoid cutaneous sarcoidosis disease_ontology DOID:13402 skin sarcoidosis A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. NCI:C35441 SNOMEDCT_US_2023_03_01:111936002 UMLS_CUI:C0398676 cerebral sarcoidosis disease_ontology DOID:13403 neurosarcoidosis A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/ A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. NCI:C35589 SNOMEDCT_US_2023_03_01:75403004 UMLS_CUI:C0392077 disease_ontology DOID:13405 cardiac sarcoidosis A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/ A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. ICD10CM:D86.0 MEDDRA:10037430 MESH:D017565 NCI:C34997 SNOMEDCT_US_2023_03_01:187230004 UMLS_CUI:C0036205 lung Sarcoidosis disease_ontology DOID:13406 pulmonary sarcoidosis A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. url:https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI NCI:C35807 UMLS_CUI:C1334067 disease_ontology DOID:13407 hypercalcemic sarcoidosis ICD10CM:K83.2 ICD9CM:576.3 NCI:C78528 SNOMEDCT_US_2023_03_01:37439003 UMLS_CUI:C0156218 disease_ontology DOID:13409 perforation of bile duct A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. GARD:10452 ICD10CM:K76.82 ICD9CM:572.2 MESH:D006501 NCI:C79596 SNOMEDCT_US_2023_03_01:197332007 UMLS_CUI:C0019151 Portal-systemic encephalopathy disease_ontology DOID:13413 hepatic encephalopathy A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. url:https://en.wikipedia.org/wiki/Hepatic_encephalopathy DOID:2863 ICD10CM:N34.2 ICD9CM:597.80 MESH:D014526 NCI:C26904 SNOMEDCT_US_2023_03_01:154388003 SNOMEDCT_US_2023_03_01:31822004 UMLS_CUI:C0041976 UMLS_CUI:C0311389 Non-Gonococcal Urethritis Nongonococcal urethritis disease_ontology DOID:1343 urethritis 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. GARD:9536 ICD10CM:A24.0 ICD9CM:024 MESH:D005896 NCI:C34638 SNOMEDCT_US_2023_03_01:4639008 UMLS_CUI:C0017589 Farcy pipes Infection due to Pseudomonas mallei disease_ontology DOID:13444 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. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ 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:13981 GARD:9525 ICD10CM:B38 ICD9CM:114 MESH:D003047 NCI:C84642 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0009186 primary extrapulmonary coccidioidomycosis disease_ontology DOID:13450 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. url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html GARD:12911 ICD10CM:H15.0 ICD9CM:379.00 MESH:D015423 NCI:C119046 SNOMEDCT_US_2023_03_01:155201000 UMLS_CUI:C0036416 disease_ontology DOID:13452 scleritis ICD10CM:C32.1 ICD9CM:161.1 NCI:C3545 SNOMEDCT_US_2023_03_01:187842004 UMLS_CUI:C0153484 Ca larynx - supraglottis malignant Supraglottic tumor malignant neoplasm of extrinsic larynx malignant neoplasm of supraglottis malignant tumor of supraglottis supraglottis disease_ontology DOID:13476 supraglottis cancer A balantitis characterized by white plaques or patches on genitals. ICD9CM:607.81 NCI:C3523 SNOMEDCT_US_2023_03_01:198028006 UMLS_CUI:C0152460 Penile Lichen Sclerosus disease_ontology DOID:13477 balanitis xerotica obliterans MESH:D052798 A balantitis characterized by white plaques or patches on genitals. url:https://www.ncbi.nlm.nih.gov/pubmed/24295833 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. GARD:85 ICD10CM:Q77.1 MESH:D013796 NCI:C85187 OMIM:187600 OMIM:187601 OMIM:273680 ORDO:1860 ORDO:2655 ORDO:93274 ORDO:93275 SNOMEDCT_US_2023_03_01:29352008 UMLS_CUI:C0039743 disease_ontology DOID:13481 Xref MGI. OMIM mapping confirmed by DO. [LS]. thanatophoric dysplasia MESH:D013796 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. GARD:7475 MESH:D016715 NCI:C85032 OMIM:176920 SNOMEDCT_US_2023_03_01:394527003 UMLS_CUI:C0085261 Wiedemann's syndrome disease_ontology DOID:13482 OMIM mapping confirmed by DO. [SN]. Proteus syndrome A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. url:https://ghr.nlm.nih.gov/condition/proteus-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK99495/ A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 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. GARD:6040 ICD10CM:F84.3 ICD9CM:299.1 NCI:C97164 SNOMEDCT_US_2023_03_01:71961003 UMLS_CUI:C0236791 Disintegrative psychosis Heller's syndrome Symbiotic psychosis disease_ontology DOID:13487 childhood disintegrative disease A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 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 ICD10CM:C17.1 ICD9CM:152.1 MESH:D007580 NCI:C170919 SNOMEDCT_US_2023_03_01:93846004 UMLS_CUI:C0153427 malignant neoplasm of jejunum malignant tumor of jejunum disease_ontology DOID:13499 jejunal cancer A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. NCI:C40275 UMLS_CUI:C1511106 disease_ontology DOID:135 benign vaginal carcinosarcoma A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 MESH:D010255 NCI:C7488 SNOMEDCT_US_2023_03_01:126675008 UMLS_CUI:C0030470 neoplasm of accessory sinus tumor of Accessory sinus disease_ontology DOID:1350 paranasal sinus benign neoplasm MESH:D014064 NCI:C35075 SNOMEDCT_US_2023_03_01:81934005 UMLS_CUI:C0040414 Overgrowth of filiform papillae disease_ontology DOID:13500 hairy tongue A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). GARD:8549 ICD10CM:Q87.0 MESH:D020331 NCI:C84893 OMIM:157900 SNOMEDCT_US_2023_03_01:89444000 UMLS_CUI:C0221060 Mobius syndrome Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum disease_ontology DOID:13501 OMIM mapping confirmed by DO. [SN]. Moebius syndrome A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). url:https://pubmed.ncbi.nlm.nih.gov/33474647/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/ ICD10CM:N30.3 ICD9CM:595.3 NCI:C123175 SNOMEDCT_US_2023_03_01:155885003 UMLS_CUI:C1261278 disease_ontology DOID:13507 trigonitis A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. GARD:7830 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 NCI:C3424 OMIM:PS191100 SNOMEDCT_US_2023_03_01:157033002 UMLS_CUI:C0041341 Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis disease_ontology DOID:13515 OMIM mapping confirmed by DO. [LS]. tuberous sclerosis A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms MESH:D010254 NCI:C26843 SNOMEDCT_US_2023_03_01:7393007 UMLS_CUI:C0030469 disorder of nasal sinus disease_ontology DOID:1352 paranasal sinus disease 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. ICD10CM:A33 ICD9CM:771.3 NCI:C116814 SNOMEDCT_US_2023_03_01:43424001 UMLS_CUI:C0343312 neonatal tetanus disease_ontology DOID:13521 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. url:https://en.wikipedia.org/wiki/Neonatal_tetanus 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. GARD:3283 ICD10CM:B74.3 ICD9CM:125.2 MESH:D008118 NCI:C34784 SNOMEDCT_US_2023_03_01:44250009 UMLS_CUI:C0023968 disease_ontology DOID:13523 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. url:http://en.wikipedia.org/wiki/Loiasis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. GARD:4155 ICD10CM:Q78.2 ICD9CM:756.52 MESH:D010022 NCI:C26840 OMIM:PS259700 OMIM:PS607634 ORDO:667 SNOMEDCT_US_2023_03_01:205500005 UMLS_CUI:C0029454 Albers-Schonberg disease marble bone disease_ontology DOID:13533 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. url:http://en.wikipedia.org/wiki/Osteopetrosis NCI:C4552 SNOMEDCT_US_2023_03_01:255008003 UMLS_CUI:C0346366 Corneal Epidermoid carcinoma disease_ontology DOID:13538 cornea squamous cell carcinoma A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. ICD10CM:E21.3 ICD9CM:252.0 MESH:D006961 NCI:C48259 OMIM:145000 OMIM:145001 OMIM:610071 ORDO:99879 SNOMEDCT_US_2023_03_01:190451000 UMLS_CUI:C0020502 disease_ontology DOID:13543 Xref MGI. hyperparathyroidism 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 ICD10CM:G21 ICD9CM:332.1 MESH:D010302 NCI:C34899 SNOMEDCT_US_2023_03_01:230292008 UMLS_CUI:C0030569 Symptomatic parkinsonism disorder presenting primarily with parkinsonism secondary parkinsonism disease_ontology DOID:13548 secondary Parkinson disease NCI:C6068 UMLS_CUI:C1335339 Lymphoma of Accessory sinus lymphoma of paranasal sinus disease_ontology DOID:1355 paranasal sinus lymphoma A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. MESH:D015812 NCI:C34639 SNOMEDCT_US_2023_03_01:270882001 UMLS_CUI:C0017605 ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles disease_ontology DOID:13550 angle-closure glaucoma A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. url:https://en.wikipedia.org/wiki/Glaucoma url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma 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. GARD:5856 ICD10CM:B44 ICD9CM:117.3 MESH:D001228 NCI:C2886 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0004030 Infection due to Aspergillus disease_ontology DOID:13564 aspergillosis MESH:D001228 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 DOID:2372 ICD10CM:C31.0 ICD9CM:160.2 NCI:C3540 NCI:C9332 SNOMEDCT_US_2023_03_01:93889000 UMLS_CUI:C0153476 UMLS_CUI:C0740487 malignant neoplasm of antrum malignant tumor of the maxillary sinus disease_ontology DOID:1357 maxillary sinus cancer ICD10CM:O43.02 MESH:D005330 NCI:C113824 SNOMEDCT_US_2023_03_01:13404009 UMLS_CUI:C2909036 Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer disease_ontology DOID:13576 twin-to-twin transfusion syndrome MESH:D008444 NCI:C3219 SNOMEDCT_US_2023_03_01:126676009 UMLS_CUI:C0024958 neoplasm of maxillary sinus tumor of Maxillofacial sinus disease_ontology DOID:1358 maxillary sinus benign neoplasm A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. ICD10CM:K83.1 ICD9CM:576.2 MESH:D002779 NCI:C83006 SNOMEDCT_US_2023_03_01:33688009 UMLS_CUI:C0008370 Obstruction of bile duct bile occlusion disease_ontology DOID:13580 cholestasis A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. url:https://en.wikipedia.org/wiki/Cholestasis A pre-eclampsia characterized by the presence of seizures. DOID:13592 GARD:6316 ICD10CM:O15 MESH:D004461 NCI:C87167 SNOMEDCT_US_2023_03_01:156111007 UMLS_CUI:C0013537 Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia disease_ontology DOID:13593 eclampsia A pre-eclampsia characterized by the presence of seizures. url:http://ghr.nlm.nih.gov/condition/preeclampsia url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 A vaginal carcinoma that has_material_basis_in connective tissue. DOID:1904 DOID:6172 NCI:C40274 NCI:C40276 NCI:C40278 UMLS_CUI:C1512974 UMLS_CUI:C1519918 UMLS_CUI:C1519924 malignant vaginal mixed epithelial and mesenchymal tumor vaginal malignant mixed Mullerian tumor vaginal malignant mixed mesodermal (mullerian) tumor vaginal mixed epithelial and mesenchymal tumor disease_ontology DOID:136 vaginal carcinosarcoma A vaginal carcinoma that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/12588439 ICD10CM:C31.2 ICD9CM:160.4 NCI:C3542 SNOMEDCT_US_2023_03_01:93808006 UMLS_CUI:C0153478 malignant neoplasm of frontal sinus malignant tumor of frontal sinus malignant tumor of the Frontal sinus disease_ontology DOID:1360 frontal sinus cancer A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. MESH:D041781 NCI:C34742 SNOMEDCT_US_2023_03_01:59848001 UMLS_CUI:C0022354 Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia disease_ontology DOID:13603 obstructive jaundice A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. url:https://en.wikipedia.org/wiki/Jaundice A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. GARD:12010 ICD10CM:Q44.2 ICD9CM:751.61 MESH:D001656 NCI:C34421 OMIM:210500 ORDO:30391 SNOMEDCT_US_2023_03_01:77480004 UMLS_CUI:C0005411 Atresia of bile duct Congenital biliary atresia biliary atresia, congenital disease_ontology DOID:13608 biliary atresia 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 NCI:C4419 SNOMEDCT_US_2023_03_01:126678005 UMLS_CUI:C0345672 neoplasm of frontal sinus tumor of the Frontal sinus disease_ontology DOID:1361 frontal sinus benign neoplasm A cholestasis resulting from causes located_in bile ducts outside the liver. MESH:D001651 NCI:C34420 SNOMEDCT_US_2023_03_01:20719006 UMLS_CUI:C0005398 extrahepatic biliary Stasis extrahepatic obstructive biliary disease disease_ontology DOID:13619 extrahepatic cholestasis A cholestasis resulting from causes located_in bile ducts outside the liver. url:https://medlineplus.gov/ency/article/000215.htm A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. NCI:C6849 UMLS_CUI:C1335342 sarcoma of Accessory sinus disease_ontology DOID:1362 paranasal sinus sarcoma 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 ICD10CM:Q21.12 MESH:D054092 NCI:C34619 SNOMEDCT_US_2023_03_01:268316001 UMLS_CUI:C0016522 Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent disease_ontology DOID:13620 patent foramen ovale ICD10CM:H16.13 ICD9CM:370.24 NCI:C118750 SNOMEDCT_US_2023_03_01:1714005 UMLS_CUI:C0155078 disease_ontology DOID:13626 photokeratitis A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. ICD10CM:D55.0 MESH:D005236 NCI:C34607 SNOMEDCT_US_2023_03_01:154801000 UMLS_CUI:C0015702 disease_ontology DOID:13628 favism A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency ICD10CM:C31.1 ICD9CM:160.3 NCI:C3541 SNOMEDCT_US_2023_03_01:363426009 UMLS_CUI:C0153477 malignant neoplasm of ethmoidal sinus malignant tumor of ethmoid sinus malignant tumor of ethmoidal sinus disease_ontology DOID:1363 ethmoid sinus cancer 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. GARD:6425 ICD10CM:D61.09 MESH:D005199 NCI:C62505 OMIM:PS227650 ORDO:84 SNOMEDCT_US_2023_03_01:30575002 UMLS_CUI:C0015625 Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia disease_ontology DOID:13636 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. Fanconi 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. 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 NCI:C4416 SNOMEDCT_US_2023_03_01:126677000 UMLS_CUI:C0345668 neoplasm of ethmoidal sinus tumor of ethmoidal sinus disease_ontology DOID:1364 ethmoidal sinus benign neoplasm A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. EFO:0004235 ICD9CM:365.52 MESH:D017889 NCI:C129025 OMIM:177650 SNOMEDCT_US_2023_03_01:111514006 UMLS_CUI:C0206368 Pseudoexfoliation glaucoma Pseudoexfoliation syndrome disease_ontology DOID:13641 OMIM mapping confirmed by DO. [SN]. exfoliation syndrome MESH:D017889 A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. GARD:7606 MESH:D020083 NCI:C119049 SNOMEDCT_US_2023_03_01:60684003 UMLS_CUI:C0263859 Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome disease_ontology DOID:13677 SAPHO syndrome A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802951/ ICD10CM:N42.0 ICD9CM:602.0 NCI:C26936 SNOMEDCT_US_2023_03_01:155934005 UMLS_CUI:C0149525 Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate disease_ontology DOID:13689 prostate calculus A dermoid cyst that is located_in the skin. NCI:C4632 SNOMEDCT_US_2023_03_01:154630005 UMLS_CUI:C0349502 skin Dermoid disease_ontology DOID:13691 dermoid cyst of skin A dermoid cyst that is located_in the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/23488469 A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. NCI:C6374 UMLS_CUI:C1336943 squamous papilloma of vagina disease_ontology DOID:137 vaginal squamous papilloma A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374 ICD10CM:F52.4 ICD9CM:302.75 MESH:D061686 NCI:C94349 SNOMEDCT_US_2023_03_01:123302009 UMLS_CUI:C0033038 disease_ontology DOID:13709 premature ejaculation An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. NCI:C27250 UMLS_CUI:C1336902 uterine corpus adenomatoid tumour uterine corpus localised epithelial Mesothelioma uterine corpus localized epithelial Mesothelioma disease_ontology DOID:1371 uterine corpus adenomatoid tumor An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/ A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. ICD10CM:K00.3 ICD9CM:520.3 MESH:D009050 NCI:C85059 SNOMEDCT_US_2023_03_01:30265004 UMLS_CUI:C0026618 Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel disease_ontology DOID:13711 dental fluorosis A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. url:https://pubmed.ncbi.nlm.nih.gov/21701193/ A tooth disease that is characterized by complete absence of permanent teeth. GARD:5818 ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 NCI:C172328 OMIM:206780 SNOMEDCT_US_2023_03_01:234951001 UMLS_CUI:C0399352 Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth disease_ontology DOID:13714 anodontia MESH:D000848 A tooth disease that is characterized by complete absence of permanent teeth. url:https://rarediseases.info.nih.gov/diseases/5818/index A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. GARD:10406 ICD10CM:E54 MESH:D012614 NCI:C35010 OMIM:240400 SNOMEDCT_US_2023_03_01:267493006 UMLS_CUI:C0036474 disease_ontology DOID:13724 OMIM mapping confirmed by DO. [SN]. scurvy A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. url:https://medlineplus.gov/ency/article/000355.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/ A thiamine deficiency disease that is characterized by being severe and chronic. GARD:9948 ICD10CM:E51.1 ICD9CM:265.0 MESH:D001602 NCI:C34418 SNOMEDCT_US_2023_03_01:267491008 UMLS_CUI:C0005122 disease_ontology DOID:13725 beriberi MESH:D001602 A thiamine deficiency disease that is characterized by being severe and chronic. url:https://en.wikipedia.org/wiki/Thiamine_deficiency url:https://medlineplus.gov/ency/article/000339.htm url:https://rarediseases.info.nih.gov/diseases/9948/beriberi An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. ICDO:8930/0 NCI:C4262 SNOMEDCT_US_2023_03_01:189810002 UMLS_CUI:C0334485 disease_ontology DOID:1373 endometrial stromal nodule An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. url:http://www.pathologyoutlines.com/topic/uterusstromalnodule.html url:https://www.ncbi.nlm.nih.gov/pubmed/26221551 NCI:C5145 UMLS_CUI:C1336047 disease_ontology DOID:13742 neurofibroma of spinal cord A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. NCI:C4619 SNOMEDCT_US_2023_03_01:189017000 UMLS_CUI:C0347446 Lipoma of spinal cord disease_ontology DOID:13743 spinal cord lipoma A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. url:http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles ICD10CM:H04.2 ICD9CM:375.2 MESH:D007766 NCI:C50552 SNOMEDCT_US_2023_03_01:49393005 UMLS_CUI:C0152227 Epiphora Excessive tear production Watering eye disease_ontology DOID:13757 excessive tearing 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. ICD10CM:B85.3 ICD9CM:132.2 NCI:C35777 SNOMEDCT_US_2023_03_01:71011005 UMLS_CUI:C0030759 Infestation by Phthirus pubis Pediculosis Pubis Pediculus pubis Phthiriasis pubis Phthirus pubis Phthirus/pediculus pubis - pubic lice - crabs crabs disease_ontology DOID:13760 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. url:http://www.cdc.gov/lice/pubic/disease.html An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. GARD:5740 ICD10CM:E27.1 MESH:D000224 NCI:C26689 OMIM:103230 OMIM:240200 SNOMEDCT_US_2023_03_01:363732003 UMLS_CUI:C0001403 Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism disease_ontology DOID:13774 Addison's disease 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 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. ICD10CM:B07.0 ICD9CM:078.12 NCI:C26913 SNOMEDCT_US_2023_03_01:154363006 UMLS_CUI:C0042548 Verruca plantaris disease_ontology DOID:13775 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. url:http://en.wikipedia.org/wiki/Plantar_wart A primary immunodeficiency 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. GARD:6357 MESH:D004819 NCI:C126877 OMIM:PS226400 ORDO:302 SNOMEDCT_US_2023_03_01:19138001 UMLS_CUI:C0014522 disease_ontology DOID:13777 OMIM mapping confirmed by DO. [SN]. epidermodysplasia verruciformis MESH:D004819 A primary immunodeficiency 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://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis A vaginal cancer that has_material_basis_in squamous tissue. NCI:C40242 UMLS_CUI:C1519931 disease_ontology DOID:138 vaginal squamous tumor A vaginal cancer that has_material_basis_in squamous tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/23057430 A uterine cancer that is located_in tissues lining the uterus. DOID:5654 EFO:0004230 GARD:11981 ICD10CM:C54.1 KEGG:05213 MESH:D016889 NCI:C27815 NCI:C3012 OMIM:608089 SNOMEDCT_US_2023_03_01:123844007 SNOMEDCT_US_2023_03_01:188192002 UMLS_CUI:C0007103 UMLS_CUI:C0014170 endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium disease_ontology DOID:1380 endometrial cancer A uterine cancer that is located_in tissues lining the uterus. url:http://www.cancer.gov/dictionary?CdrID=444987 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. ICD9CM:077.2 MESH:D000258 NCI:C34924 SNOMEDCT_US_2023_03_01:70385007 UMLS_CUI:C0031351 Adenoviral pharyngoconjunctivitis pharyngo-conjunctival fever disease_ontology DOID:13801 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. url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever ICD10CM:E78.49 MESH:D006950 NCI:C35637 OMIM:144250 SNOMEDCT_US_2023_03_01:48190005 UMLS_CUI:C0020474 familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia disease_ontology DOID:13809 OMIM mapping confirmed by DO. [SN]. familial combined hyperlipidemia A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. GARD:6462 ICD10CM:L75.2 ICD9CM:705.82 MESH:D005588 NCI:C84716 SNOMEDCT_US_2023_03_01:254682006 UMLS_CUI:C0016632 Fox Fordyce disease disease_ontology DOID:1381 Fox-Fordyce disease A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/ A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. GARD:10416 ICD10CM:E78.01 MESH:D006938 NCI:C34704 OMIM:143890 ORDO:406 SNOMEDCT_US_2023_03_01:190772003 UMLS_CUI:C0020445 Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia disease_ontology DOID:13810 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial hypercholesterolemia 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 A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). ICD10CM:G52.3 ICD9CM:352.5 MESH:D020437 NCI:C26954 SNOMEDCT_US_2023_03_01:24777009 UMLS_CUI:C0152181 disorder of 12th nerve disorder of XII nerve disorder of hypoglossal [12th] nerve disorder of hypoglossal nerve disease_ontology DOID:13814 hypoglossal nerve disease A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). url:https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders 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. GARD:9545 ICD10CM:A55 ICD9CM:099.1 MESH:D008219 NCI:C26822 SNOMEDCT_US_2023_03_01:266213004 UMLS_CUI:C0024286 Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo disease_ontology DOID:13819 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. url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. ICD10CM:L74.3 MESH:D008883 NCI:C34820 SNOMEDCT_US_2023_03_01:63951004 UMLS_CUI:C0026113 eccrine miliaria heat rash sweat rash disease_ontology DOID:1382 miliaria A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ url:https://www.ncbi.nlm.nih.gov/pubmed/30725861 A cataract resulting from hypocalcemia. ICD9CM:366.42 NCI:C35068 SNOMEDCT_US_2023_03_01:193607003 UMLS_CUI:C0039613 Hypocalcaemic cataract disease_ontology DOID:13822 tetanic cataract A cataract resulting from hypocalcemia. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068 GARD:7342 ICD10CM:Q25.0 ICD9CM:747.0 MESH:D004374 NCI:C84492 OMIM:607411 SNOMEDCT_US_2023_03_01:156928009 UMLS_CUI:C0013274 Patent ductus Botalli disease_ontology ductus arteriosus, Patent DOID:13832 OMIM mapping confirmed by DO. [SN]. patent ductus arteriosus A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. GARD:5 ICD10CM:E78.6 MESH:D000012 NCI:C84525 OMIM:200100 SNOMEDCT_US_2023_03_01:83123000 UMLS_CUI:C0000744 familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease disease_ontology DOID:1386 OMIM mapping confirmed by DO. [SN]. abetalipoproteinemia MESH:D000012 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. 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 ICD10CM:H49.1 ICD9CM:378.53 MESH:D020432 NCI:C180994 SNOMEDCT_US_2023_03_01:246781001 SNOMEDCT_US_2023_03_01:67883005 UMLS_CUI:C0271375 UMLS_CUI:C0423092 UMLS_CUI:C0751939 Superior oblique muscle innervation disorder Trochlear nerve disorder disorder of trochlear nerve disease_ontology DOID:13864 trochlear nerve disease ICD10CM:F52.0 ICD9CM:302.71 MESH:D020018 NCI:C94337 SNOMEDCT_US_2023_03_01:78889008 UMLS_CUI:C0020594 Lack or loss of sexual desire disease_ontology DOID:13868 hypoactive sexual desire disorder A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. GARD:7731 ICD10CM:E78.6 MESH:D013631 NCI:C85182 OMIM:205400 SNOMEDCT_US_2023_03_01:190783007 UMLS_CUI:C0039292 familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency disease_ontology DOID:1388 OMIM mapping confirmed by DO. [LS]. Tangier disease MESH:D013631 A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/10431236/ ICD10CM:I49.5 MESH:D012804 NCI:C62244 OMIM:163800 OMIM:608567 ORDO:166282 SNOMEDCT_US_2023_03_01:266307005 UMLS_CUI:C0037052 sinus node infection disease_ontology DOID:13884 Xref MGI. sick sinus syndrome MESH:D012804 A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. ICD10CM:A69.22 MESH:D011115 NCI:C26951 SNOMEDCT_US_2023_03_01:193166009 UMLS_CUI:C0152025 disease_ontology DOID:1389 polyneuropathy A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. url:https://en.wikipedia.org/wiki/Polyneuropathy url:https://www.virginiamason.org/polyneuropathy 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. ICD10CM:J67.2 ICD9CM:495.2 MESH:D001716 NCI:C34425 SNOMEDCT_US_2023_03_01:69339004 UMLS_CUI:C0005592 Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung disease_ontology DOID:13891 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. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf ICDO:8052/0 MESH:D010212 NCI:C3712 SNOMEDCT_US_2023_03_01:63451008 UMLS_CUI:C0205874 Epidermoid papilloma disease_ontology DOID:139 squamous cell papilloma ICD10CM:E78.6 MESH:D007863 NCI:C84813 OMIM:245900 SNOMEDCT_US_2023_03_01:238091006 UMLS_CUI:C0023195 LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency disease_ontology DOID:1391 OMIM mapping confirmed by DO. [SN]. Norum disease 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. ICD10CM:H53.51 ICD9CM:368.54 MESH:D003117 NCI:C84528 ORDO:49382 SNOMEDCT_US_2023_03_01:56852002 UMLS_CUI:C0152200 ACHM Monochromatism disease_ontology DOID:13911 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. 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 ICD10CM:H53.52 ICD9CM:368.55 MESH:D003117 NCI:C118712 SNOMEDCT_US_2023_03_01:71676008 UMLS_CUI:C0155018 acquired color vision deficiencies acquired color vision deficiency acquired colour blindness acquired colour vision deficiencies acquired colour vision deficiency disease_ontology DOID:13912 acquired color blindness NCI:C27106 SNOMEDCT_US_2023_03_01:235601001 UMLS_CUI:C0341108 disease_ontology DOID:13921 bacterial esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. EFO:0004232 ICD10CM:K20.0 ICD9CM:530.13 MESH:D057765 NCI:C27105 OMIM:610247 OMIM:613412 ORDO:73247 SNOMEDCT_US_2023_03_01:235599003 UMLS_CUI:C0341106 disease_ontology DOID:13922 Xref MGI. OMIM mapping confirmed by DO. [SN]. eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis DOID:2274 GARD:5736 ICD10CM:A69.1 ICD9CM:101 MESH:D005892 NCI:C34637 SNOMEDCT_US_2023_03_01:171847006 SNOMEDCT_US_2023_03_01:707792000 UMLS_CUI:C0017575 UMLS_CUI:C1527368 ANUG Angina - Vincents Vincent angina Vincent's angina Vincent's angina - pharyngitis Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivostomatitis acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis acute ulceromembranous gingivitis early acute necrotising gingivitis trench mouth disease_ontology DOID:13924 necrotizing ulcerative gingivitis MESH:D007767 NCI:C34757 SNOMEDCT_US_2023_03_01:95769009 UMLS_CUI:C0022906 Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts disease_ontology DOID:13929 lacrimal duct obstruction An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. ICD10CM:H47.9 NCI:C35342 SNOMEDCT_US_2023_03_01:54767005 UMLS_CUI:C0155287 disease_ontology DOID:1393 visual pathway disease An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342 ICD10CM:G51.0 MESH:D005158 NCI:C26769 SNOMEDCT_US_2023_03_01:90039006 UMLS_CUI:C0015469 Facial Palsy disease_ontology DOID:13934 facial paralysis A female reproductive system disease that is characterized by the absence of menstruation. ICD10CM:N91.2 ICD9CM:626.0 MESH:D000568 NCI:C61443 SNOMEDCT_US_2023_03_01:156034000 UMLS_CUI:C0002453 absence of menstruation amenia disease_ontology DOID:13938 amenorrhea MESH:D000568 A female reproductive system disease that is characterized by the absence of menstruation. url:https://www.ncbi.nlm.nih.gov/pubmed/23939500 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. ICD9CM:120.0 MESH:D012553 NCI:C39294 SNOMEDCT_US_2023_03_01:60979006 UMLS_CUI:C0276926 Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis disease_ontology Schistosoma haematobium infection DOID:1394 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. url:http://en.wikipedia.org/wiki/Schistosoma_haematobium url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. GARD:1049 ICD10CM:I67.850 MESH:D046589 NCI:C84606 OMIM:600142 OMIM:PS125310 ORDO:136 SNOMEDCT_US_2023_03_01:390723008 UMLS_CUI:C0751587 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia disease_ontology DOID:13945 CADASIL A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. url:https://www.ncbi.nlm.nih.gov/pubmed/10476042 url:https://www.ncbi.nlm.nih.gov/pubmed/8878478 ICD10CM:N32.0 ICD9CM:596.0 MESH:D001748 NCI:C79541 SNOMEDCT_US_2023_03_01:197859007 UMLS_CUI:C0005694 Obstruction of bladder neck or vesicourethral orifice disease_ontology DOID:13948 bladder neck obstruction GARD:6787 MESH:D018856 NCI:C27189 SNOMEDCT_US_2023_03_01:197834003 UMLS_CUI:C0282488 ulcerative cystitis disease_ontology DOID:13949 interstitial cystitis An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. NCI:C40164 UMLS_CUI:C1519850 disease_ontology DOID:13951 uterine corpus epithelioid leiomyoma An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid A uterine fibroid that is characterized by the presence of intramural tearing. NCI:C40172 UMLS_CUI:C1519847 disease_ontology DOID:13953 uterine corpus dissecting leiomyoma A uterine fibroid that is characterized by the presence of intramural tearing. url:http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085 url:https://www.ncbi.nlm.nih.gov/pubmed/23370645 An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. NCI:C40166 UMLS_CUI:C1519860 disease_ontology DOID:13956 uterine corpus myxoid leiomyoma An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html An uterine fibroid that is characterized by the presence of adipocytes. NCI:C40168 UMLS_CUI:C1519856 disease_ontology DOID:13957 uterine corpus lipoleiomyoma An uterine fibroid that is characterized by the presence of adipocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/ An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. NCI:C40167 UMLS_CUI:C1519853 uterine Corpus Symplastic leiomyoma disease_ontology DOID:13958 uterine corpus bizarre leiomyoma An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html 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:1494 DOID:2114 DOID:2293 DOID:2922 DOID:3564 DOID:4191 DOID:886 DOID:948 DOID:9639 DOID:9644 ICD10CM:H44.12 ICD9CM:360.13 NCI:C34587 SNOMEDCT_US_2023_03_01:57100005 UMLS_CUI:C0014238 Ectoparasitic disease parasitemia disease_ontology DOID:1398 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. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 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. GARD:6118 ICD10CM:Q74.0 MESH:D002973 NCI:C75020 OMIM:119600 OMIM:216330 ORDO:1452 SNOMEDCT_US_2023_03_01:65976001 UMLS_CUI:C0008928 Marie-Sainton Disease cleidocranial dysostosis disease_ontology DOID:13994 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm url:https://www.faces-cranio.org/cleidocranial NCI:C4007 SNOMEDCT_US_2023_03_01:449074003 UMLS_CUI:C0278805 small intestinal Lymphoma disease_ontology DOID:13996 small intestine lymphoma An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. ICD10CM:H04 ICD9CM:375 MESH:D007766 NCI:C26809 SNOMEDCT_US_2023_03_01:267740009 UMLS_CUI:C0022904 disease_ontology DOID:1400 lacrimal apparatus disease An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809 An aortic aneurysm that is located_in the thoracic aorta. EFO:0004282 MESH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 SNOMEDCT_US_2023_03_01:155421001 UMLS_CUI:C0162872 disease_ontology DOID:14004 Xref MGI. OMIM mapping confirmed by DO. [SN]. thoracic aortic aneurysm 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 ICD10CM:K70.3 ICD9CM:571.2 MESH:D008104 NCI:C34782 SNOMEDCT_US_2023_03_01:420054005 UMLS_CUI:C0023891 Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis disease_ontology DOID:14018 alcoholic liver cirrhosis A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. GARD:7411 MESH:D016878 NCI:C80303 SNOMEDCT_US_2023_03_01:79268002 UMLS_CUI:C0085404 disease_ontology DOID:14039 POEMS syndrome A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. url:https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. ICD10CM:E31.0 MESH:D016884 NCI:C84576 SNOMEDCT_US_2023_03_01:41864002 UMLS_CUI:C0085409 Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy disease_ontology DOID:14040 autoimmune polyendocrine syndrome An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. url:https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome sn:IEDB MESH:D007500 NCI:C50621 SNOMEDCT_US_2023_03_01:65074000 UMLS_CUI:C0022081 disease_ontology DOID:1406 iritis NCI:C35443 SNOMEDCT_US_2023_03_01:68544003 UMLS_CUI:C0403414 Post-Streptococcal Glomerulonephritis disease_ontology DOID:14064 acute poststreptococcal glomerulonephritis NCI:C35587 SNOMEDCT_US_2023_03_01:197585004 UMLS_CUI:C0341689 acute Diffuse Glomerulonephritis disease_ontology DOID:14066 acute diffuse nephritis 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. ICD10CM:B50 ICD9CM:084.0 MESH:D016778 NCI:C34798 SNOMEDCT_US_2023_03_01:62676009 UMLS_CUI:C0024535 Malaria fever, subtertian falciparum malaria malignant tertian fever disease_ontology DOID:14067 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria 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. ICD9CM:084.8 MESH:D001742 NCI:C34426 SNOMEDCT_US_2023_03_01:56625005 UMLS_CUI:C0005681 Black water fever Hemoglobinuric, malaria Malarial Hemoglobinuria disease_ontology DOID:14068 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. url:http://en.wikipedia.org/wiki/Blackwater_fever url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever 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. ICD10CM:B50.0 MESH:D016779 NCI:C128373 SNOMEDCT_US_2023_03_01:53622003 UMLS_CUI:C0024534 Malarial encephalitis disease_ontology DOID:14069 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. url:http://en.wikipedia.org/wiki/Malaria GARD:10941 MESH:D014606 NCI:C35109 SNOMEDCT_US_2023_03_01:193500005 UMLS_CUI:C0042165 disease_ontology DOID:1407 anterior uveitis A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. GARD:2790 ICD10CM:E26.02 ICD9CM:255.11 MESH:C563177 NCI:C127161 OMIM:103900 SNOMEDCT_US_2023_03_01:703232003 UMLS_CUI:C3838731 GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism disease_ontology DOID:14080 OMIM mapping confirmed by DO. [SN]. glucocorticoid-remediable aldosteronism A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. url:https://pubmed.ncbi.nlm.nih.gov/10852446/ url:https://pubmed.ncbi.nlm.nih.gov/1731223/ A bone inflammation disease that results_in inflammation located_in epicondyle. DOID:14162 ICD10CM:M77.1 ICD9CM:726.32 MESH:D013716 NCI:C34589 NCI:C35067 SNOMEDCT_US_2023_03_01:156659008 SNOMEDCT_US_2023_03_01:268088003 UMLS_CUI:C0014488 UMLS_CUI:C0039516 Lateral epicondylitis andrel epicondylitis archer's elbow golfer's elbow hockey elbow medial epicondylitis disease_ontology shooter's elbow tennis elbow DOID:14087 epicondylitis A bone inflammation disease that results_in inflammation located_in epicondyle. url:http://en.wikipedia.org/wiki/Epicondylitis A large intestine cancer that is located_in the anus. DOID:12240 GARD:9300 ICD10CM:C21.0 ICD10CM:C21.1 ICD9CM:154.2 ICD9CM:154.3 NCI:C7379 SNOMEDCT_US_2023_03_01:93669004 SNOMEDCT_US_2023_03_01:93676009 UMLS_CUI:C0153445 UMLS_CUI:C0153446 anal cancer malignant anal tumor disease_ontology DOID:14110 anus cancer A large intestine cancer that is located_in the anus. url:http://en.wikipedia.org/wiki/Anus 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. ICD10CM:A48.3 ICD9CM:040.82 MESH:D012772 NCI:C35498 SNOMEDCT_US_2023_03_01:18504008 UMLS_CUI:C0600327 TSS toxic shock disease_ontology DOID:14115 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. url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome DOID:3137 GARD:6957 MESH:D008069 NCI:C4392 OMIM:151800 SNOMEDCT_US_2023_03_01:238902007 SNOMEDCT_US_2023_03_01:65245004 UMLS_CUI:C0023804 UMLS_CUI:C0028253 LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis disease_ontology DOID:14116 OMIM mapping confirmed by DO. [SN]. multiple symmetric lipomatosis A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. GARD:12241 ICD10CM:E78.3 ICD9CM:272.3 MESH:D008072 NCI:C84771 OMIM:238600 ORDO:309015 SNOMEDCT_US_2023_03_01:34171006 UMLS_CUI:C0023817 Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia disease_ontology DOID:14118 OMIM mapping confirmed by DO. [SN]. familial lipoprotein lipase deficiency A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. url:https://pubmed.ncbi.nlm.nih.gov/35415234/ url:https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/ NCI:C5826 SNOMEDCT_US_2023_03_01:126972009 UMLS_CUI:C1263898 VIth Cranial nerve tumors neoplasm of abducens nerve disease_ontology DOID:14125 abducens nerve neoplasm NCI:C5601 SNOMEDCT_US_2023_03_01:1153356005 UMLS_CUI:C1332268 Lymphoma of anus disease_ontology DOID:14139 anus lymphoma NCI:C4639 SNOMEDCT_US_2023_03_01:276821000 UMLS_CUI:C0349538 anal melanoma malignant melanoma of anus disease_ontology DOID:14145 malignant anus melanoma An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. ICD10CM:N20.1 ICD9CM:592.1 MESH:D053039 NCI:C114696 SNOMEDCT_US_2023_03_01:31054009 UMLS_CUI:C0041952 Ureteric calculus Ureteric stone calculus of ureter disease_ontology DOID:14146 ureterolithiasis An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. url:https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/ url:https://www.ncbi.nlm.nih.gov/pubmed/28513524 GARD:6556 MESH:D015799 NCI:C84744 OMIM:258870 SNOMEDCT_US_2023_03_01:314467007 UMLS_CUI:C0018425 Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina disease_ontology DOID:1415 OMIM mapping by NeuroDevNet. [LS]. gyrate atrophy A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. NCI:C5157 UMLS_CUI:C1336044 Lymphoma of the Spinal Cord disease_ontology spinal cord cancer DOID:14150 spinal cord lymphoma A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. url:http://www.virtualmedicalcentre.com/diseases.asp?did=583 NCI:C5158 UMLS_CUI:C1336045 melanoma of the Spinal Cord disease_ontology DOID:14151 spinal cord melanoma NCI:C5152 UMLS_CUI:C1336049 sarcoma of the Spinal Cord disease_ontology DOID:14152 spinal cord sarcoma ICD10CM:G91.1 ICD9CM:331.4 MESH:D006849 NCI:C116347 SNOMEDCT_US_2023_03_01:230746009 UMLS_CUI:C0549423 disease_ontology DOID:14159 obstructive hydrocephalus An uveal disease that is located_in the choroid. ICD10CM:H31.9 ICD9CM:363.9 MESH:D015862 NCI:C34468 SNOMEDCT_US_2023_03_01:193480005 UMLS_CUI:C0008521 disease_ontology DOID:1417 choroid disease An uveal disease that is located_in the choroid. url:https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders ICDO:9506/1 MESH:D018306 NCI:C3791 SNOMEDCT_US_2023_03_01:302832007 UMLS_CUI:C0206719 Neurolipocytoma disease_ontology DOID:14174 central neurocytoma GARD:7855 ICD10CM:Q85.83 MESH:D006623 NCI:C3105 OMIM:193300 SNOMEDCT_US_2023_03_01:46659004 UMLS_CUI:C0019562 Hippel Lindau syndrome von Hippel-Lindau syndrome disease_ontology DOID:14175 OMIM mapping confirmed by DO. [LS]. von Hippel-Lindau disease A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. GARD:10371 ICD10CM:D80.3 MESH:D017099 NCI:C27142 SNOMEDCT_US_2023_03_01:190981001 UMLS_CUI:C0162539 Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency disease_ontology DOID:14176 selective IgG deficiency disease A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. url:https://www.ncbi.nlm.nih.gov/pubmed/26846287 An agammaglobulinemia that is that has_material_basis_in 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. MESH:C537409 NCI:C3822 OMIM:300755 ORDO:47 SNOMEDCT_US_2023_03_01:65880007 UMLS_CUI:C0221026 BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia disease_ontology DOID:14179 OMIM mapping confirmed by DO. [SN]. X-linked agammaglobulinemia An agammaglobulinemia that is that has_material_basis_in 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.nlm.nih.gov/medlineplus/ency/article/001307.htm ICD10CM:G62.1 ICD9CM:357.5 MESH:D020269 NCI:C26926 SNOMEDCT_US_2023_03_01:7916009 UMLS_CUI:C0085677 Alcohol-related polyneuropathy Alcoholic polyneuropathy disease_ontology DOID:14183 alcoholic neuropathy MESH:D020269 ICD10CM:M33.0 MESH:D003882 NCI:C27576 SNOMEDCT_US_2023_03_01:1212005 UMLS_CUI:C0263666 Juvenile dermatomyositis childhood Dermatomyositis disease_ontology DOID:14203 childhood type dermatomyositis A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. DOID:14763 GARD:6734 ICD10CM:E83.39 MESH:C562440 MESH:D007014 NCI:C26798 ORDO:436 SNOMEDCT_US_2023_03_01:30174008 SNOMEDCT_US_2023_03_01:70848009 UMLS_CUI:C0020630 UMLS_CUI:C0220743 deficiency of alkaline phosphatase disease_ontology DOID:14213 OMIM mapping confirmed by DO. [SN]. hypophosphatasia A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. url:https://ghr.nlm.nih.gov/condition/hypophosphatasia 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. GARD:19 MESH:D054067 NCI:C84672 OMIM:274270 SNOMEDCT_US_2023_03_01:238016000 UMLS_CUI:C1959620 UMLS_CUI:C3495551 Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea disease_ontology DOID:14218 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. url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency 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. GARD:7552 ICD10CM:N25.89 MESH:D000141 NCI:C28129 OMIM:179830 OMIM:267200 OMIM:602722 SNOMEDCT_US_2023_03_01:1776003 UMLS_CUI:C0001126 disease_ontology DOID:14219 Xref MGI. 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. 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 An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. EFO:0000195 GARD:9226 ICD10CM:E88.81 ICD9CM:277.7 MESH:D024821 NCI:C84442 OMIM:605552 SNOMEDCT_US_2023_03_01:190394009 UMLS_CUI:C0524620 dysmetabolic syndrome X metabolic syndrome X disease_ontology DOID:14221 OMIM mapping confirmed by DO. [SN]. abdominal obesity-metabolic syndrome 1 An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. url:https://en.wikipedia.org/wiki/Metabolic_syndrome A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. GARD:7231 ICD10CM:E70.29 MESH:D009794 NCI:C84938 SNOMEDCT_US_2023_03_01:21924005 UMLS_CUI:C0028817 disease_ontology DOID:14223 ochronosis A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. url:https://en.wikipedia.org/wiki/Ochronosis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/ NCI:C35314 SNOMEDCT_US_2023_03_01:81089005 UMLS_CUI:C0264324 Calcification of trachea disease_ontology DOID:14224 tracheal calcification A male infertility disease characterized by the absence of any measurable level of sperm in semen. EFO:0000279 ICD10CM:N46.0 ICD9CM:606.0 MESH:D053713 NCI:C80076 ORDO:217034 SNOMEDCT_US_2023_03_01:145008007 UMLS_CUI:C0004509 disease_ontology DOID:14227 Xref MGI. azoospermia MESH:D053713 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 A male fertility issue defined as a low sperm concentration in the ejaculate. ICD10CM:N46.1 ICD9CM:606.1 MESH:D009845 NCI:C34860 UMLS_CUI:C0028960 disease_ontology DOID:14228 oligospermia A male fertility issue defined as a low sperm concentration in the ejaculate. url:https://en.wikipedia.org/wiki/Oligospermia A suppurative otitis media which is persistent and long-lasting. ICD10CM:H66.3 ICD9CM:382.3 NCI:C128386 SNOMEDCT_US_2023_03_01:38394007 UMLS_CUI:C0271454 chronic suppurative otitis media disease_ontology DOID:14247 chronic purulent 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 NCI:C35666 SNOMEDCT_US_2023_03_01:266627003 UMLS_CUI:C0034223 Ureter abscess disease_ontology DOID:1425 pyoureter 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. GARD:10247 ICD10CM:Q90 ICD9CM:758.0 MESH:D004314 NCI:C2993 OMIM:190685 ORDO:870 SNOMEDCT_US_2023_03_01:41040004 UMLS_CUI:C0013080 Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome disease_ontology DOID:14250 OMIM mapping confirmed by DO. [SN]. 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. 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 url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21 A urinary system disease that is located_in the ureter. MESH:D014515 NCI:C27148 SNOMEDCT_US_2023_03_01:128073008 UMLS_CUI:C0403608 disease_ontology DOID:1426 ureteral disease A urinary system disease that is located_in the ureter. url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html A syndrome 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. GARD:6464 ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 NCI:C84717 OMIM:300624 ORDO:908 SNOMEDCT_US_2023_03_01:390007001 UMLS_CUI:C0016667 FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME disease_ontology DOID:14261 OMIM mapping confirmed by DO. [SN]. fragile X syndrome A syndrome 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 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. ICD10CM:B37.9 ICD9CM:112.0 MESH:D002180 NCI:C28137 SNOMEDCT_US_2023_03_01:187006006 UMLS_CUI:C0006849 Candidiasis of mouth Oral moniliasis Thrush, oral thrush disease_ontology DOID:14262 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. url:http://en.wikipedia.org/wiki/Oral_candidiasis 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. MESH:D020936 NCI:C84593 OMIM:121200 OMIM:121201 OMIM:269720 ORDO:1949 SNOMEDCT_US_2023_03_01:38281008 UMLS_CUI:C0270851 benign familial neonatal seizures benign neonatal convulsions disease_ontology DOID:14264 Xref MGI. 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. 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 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 MESH:D011665 NCI:C62436 SNOMEDCT_US_2023_03_01:91434003 UMLS_CUI:C0034088 Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation disease_ontology DOID:14265 Replacing outdated UMLS CUI. pulmonary valve insufficiency MESH:D011665 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 ICD10CM:K83.09 NCI:C35336 SNOMEDCT_US_2023_03_01:197437002 UMLS_CUI:C0267924 disease_ontology DOID:14269 suppurative cholangitis ICD10CM:K83.09 NCI:C35372 SNOMEDCT_US_2023_03_01:26918003 UMLS_CUI:C0311273 disease_ontology DOID:14270 ascending cholangitis NCI:C35334 SNOMEDCT_US_2023_03_01:6215006 UMLS_CUI:C0267917 disease_ontology DOID:14271 acute cholangitis NCI:C34916 SNOMEDCT_US_2023_03_01:111373008 UMLS_CUI:C0031052 disease_ontology DOID:14272 pericholangitis ICD10CM:M89.4 MESH:D010004 NCI:C85023 OMIM:259100 SNOMEDCT_US_2023_03_01:88220006 UMLS_CUI:C0029411 Pachydermoperiostosis of nail Pachydermoperiostosis syndrome disease_ontology DOID:14283 OMIM mapping confirmed by DO. [SN]. primary hypertrophic osteoarthropathy 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. GARD:6313 ICD10CM:Q22.5 ICD9CM:746.2 MESH:D004437 NCI:C84681 OMIM:224700 SNOMEDCT_US_2023_03_01:1796006 UMLS_CUI:C0013481 Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve disease_ontology DOID:14289 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Ebstein_anomaly A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. GARD:1100 MESH:D044542 NCI:C84820 OMIM:PS151100 ORDO:500 SNOMEDCT_US_2023_03_01:111306001 UMLS_CUI:C0175704 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis disease_ontology DOID:14291 OMIM mapping confirmed by DO. [SN]. Noonan syndrome with multiple lentigines A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance url:https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. ICD10CM:N90.4 ICD9CM:624.0 NCI:C34565 SNOMEDCT_US_2023_03_01:198378001 UMLS_CUI:C0013426 Dystrophy of vulva disease_ontology DOID:14292 vulvar dystrophy A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. url:https://www.ncbi.nlm.nih.gov/pubmed/1449423 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. MESH:D004654 NCI:C34575 SNOMEDCT_US_2023_03_01:186184002 UMLS_CUI:C0014014 disease_ontology DOID:14305 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. url:http://erj.ersjournals.com/cgi/reprint/10/4/942 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema MESH:D000796 NCI:C7393 SNOMEDCT_US_2023_03_01:254791004 UMLS_CUI:C0002989 Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin disease_ontology DOID:14308 skin epithelioid hemangioma An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. ICD10CM:F41.1 ICD9CM:300.02 NCI:C92622 SNOMEDCT_US_2023_03_01:192401002 UMLS_CUI:C0270549 disease_ontology DOID:14320 generalized anxiety disorder 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 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. GARD:6975 ICD10CM:Q87.4 ICD9CM:759.82 MESH:D008382 NCI:C34807 OMIM:154700 SNOMEDCT_US_2023_03_01:19346006 UMLS_CUI:C0024796 Marfan's syndrome disease_ontology DOID:14323 OMIM mapping confirmed by DO. [SN]. Marfan syndrome MESH:D008382 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. url:https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 url:https://rarediseases.org/rare-diseases/marfan-syndrome/ A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. ICD10CM:B52 ICD9CM:084.2 NCI:C34799 SNOMEDCT_US_2023_03_01:27618009 UMLS_CUI:C0024536 Malaria by Plasmodium malariae Quartan Malaria disease_ontology DOID:14324 Plasmodium malariae malaria 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 A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. GARD:10251 ICD10CM:G20 ICD9CM:332 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:PS168600 ORDO:2828 SNOMEDCT_US_2023_03_01:49049000 UMLS_CUI:C0030567 Parkinson disease paralysis agitans disease_ontology DOID:14330 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Parkinson%27s_disease url:https://pubmed.ncbi.nlm.nih.gov/26474316/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/ ICD10CM:G21.3 MESH:D010301 NCI:C34898 SNOMEDCT_US_2023_03_01:192828004 UMLS_CUI:C0030568 postencephalitic parkinsonism disease_ontology DOID:14332 postencephalitic Parkinson disease An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. ICD10CM:E28.0 ICD9CM:256.0 NCI:C113344 SNOMEDCT_US_2023_03_01:190533004 UMLS_CUI:C0154209 hyperestrogenism disease_ontology DOID:14336 estrogen excess An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. url:https://www.icd10data.com/ICD10CM/Codes/E00-E89/E20-E35/E28-/E28.0 ICD10CM:E06.0 MESH:D013969 NCI:C129724 SNOMEDCT_US_2023_03_01:3511005 UMLS_CUI:C0040150 Infectious thyroiditis acute suppurative thyroiditis disease_ontology DOID:14350 suppurative thyroiditis ICD10CM:E06.5 NCI:C35827 SNOMEDCT_US_2023_03_01:190298005 UMLS_CUI:C0154162 Riedel fibrosing thyroiditis disease_ontology DOID:14351 Riedel's fibrosing thyroiditis 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:1668 ICD10CM:E71.41 ICD9CM:277.81 MESH:C536778 NCI:C98864 OMIM:212140 SNOMEDCT_US_2023_03_01:21764004 UMLS_CUI:C0342788 carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect disease_ontology DOID:14365 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Carnitine_deficiency 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. NCI:C34855 SNOMEDCT_US_2023_03_01:128870005 UMLS_CUI:C0028425 Crusted scabies disease_ontology DOID:14374 norwegian scabies 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 A cerebrum cancer that is located_in the parietal lobe. DOID:14383 ICD10CM:C71.3 ICD9CM:191.3 NCI:C5573 SNOMEDCT_US_2023_03_01:126956001 SNOMEDCT_US_2023_03_01:93946000 UMLS_CUI:C0153637 UMLS_CUI:C1263888 malignant neoplasm of parietal lobe tumor of Parietal Lobe disease_ontology DOID:14384 parietal lobe neoplasm A cerebrum cancer that is located_in the parietal lobe. url:http://en.wikipedia.org/wiki/Parietal_lobe ICD10CM:R82.81 MESH:D011776 NCI:C119028 SNOMEDCT_US_2023_03_01:4800001 UMLS_CUI:C0034359 Pus cells in urine disease_ontology DOID:1439 pyuria 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. MESH:D017827 NCI:C84830 OMIM:109150 SNOMEDCT_US_2023_03_01:91952008 UMLS_CUI:C0024408 Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3 disease_ontology DOID:1440 OMIM mapping confirmed by DO. [SN]. Machado-Joseph disease MESH:D017827 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 A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. GARD:1084 MESH:D019559 NCI:C62578 ORDO:188 SNOMEDCT_US_2023_03_01:87730004 UMLS_CUI:C0343084 disease_ontology DOID:14400 capillary leak syndrome MESH:D019559 A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/ A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. DOID:2478 MESH:D020754 NCI:C82341 OMIM:PS164400 ORDO:94 SNOMEDCT_US_2023_03_01:129609000 UMLS_CUI:C0087012 spinocerebellar ataxia disease_ontology DOID:1441 autosomal dominant cerebellar ataxia A cerebellar 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/ An osteochondrosis that results_in death and fracture located_in hip joint. DOID:14561 GARD:6874 ICD10CM:M91.2 MESH:D007873 NCI:C34766 OMIM:150600 SNOMEDCT_US_2023_03_01:15739006 SNOMEDCT_US_2023_03_01:270545000 UMLS_CUI:C0022441 UMLS_CUI:C0023234 Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia disease_ontology Legg-Calve-Perthes symptom DOID:14415 OMIM mapping confirmed by DO. [SN]. Legg-Calve-Perthes disease 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 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. GARD:6286 ICD10CM:B72 ICD9CM:125.7 MESH:D004320 NCI:C84677 SNOMEDCT_US_2023_03_01:48874008 UMLS_CUI:C0013100 Dracontiasis Infection by Dracunculus medinensis disease_ontology DOID:14418 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. url:http://en.wikipedia.org/wiki/Dracunculiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm 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. ICD9CM:125.4 MESH:D004154 NCI:C34540 SNOMEDCT_US_2023_03_01:15629006 UMLS_CUI:C0012517 Infection by Dipetalonema Infection by Dipetalonema perstans dipetalonema infectious disease disease_ontology DOID:14422 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. url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. GARD:2538 ICD9CM:758.6 MESH:D006059 NCI:C61420 SNOMEDCT_US_2023_03_01:268356004 UMLS_CUI:C0018051 Gonadal dysgenesis syndrome disease_ontology DOID:14447 gonadal dysgenesis A disorder of sexual development 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 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. MESH:D006061 NCI:C120198 OMIM:607080 OMIM:PS400044 UMLS_CUI:C0018054 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome disease_ontology DOID:14448 The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. 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. url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. MESH:D006060 NCI:C120199 SNOMEDCT_US_2023_03_01:205682006 UMLS_CUI:C0018055 disease_ontology DOID:14449 mixed gonadal dysgenesis A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. url:https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. MESH:D023961 NCI:C120197 OMIM:PS233300 ORDO:243 UMLS_CUI:C0949595 ovarian dysgenesis disease_ontology DOID:14450 OMIM mapping confirmed by DO. [LS]. 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. url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 GARD:195 ICD10CM:G72.3 MESH:D020513 NCI:C123429 OMIM:170500 ORDO:682 SNOMEDCT_US_2023_03_01:304737009 UMLS_CUI:C0238357 familial hyperkalemic periodic paralysis disease_ontology DOID:14451 OMIM mapping confirmed by DO. [SN]. hyperkalemic periodic paralysis GARD:5557 GARD:6729 ICD10CM:G72.3 MESH:D020514 NCI:C84775 OMIM:170400 OMIM:613345 ORDO:681 SNOMEDCT_US_2023_03_01:240093008 UMLS_CUI:C0238358 Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis disease_ontology DOID:14452 OMIM mapping confirmed by DO. [SN]. hypokalemic periodic paralysis 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. GARD:6427 ICD10CM:J67.0 ICD9CM:495.0 MESH:D005203 NCI:C34605 SNOMEDCT_US_2023_03_01:155581001 UMLS_CUI:C0015634 Farmers lung farmer lung disease_ontology DOID:14453 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. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung NCI:C6245 SNOMEDCT_US_2023_03_01:121951000119101 UMLS_CUI:C1335128 Angioma of the orbit disease_ontology DOID:14459 hemangioma of orbit NCI:C4546 SNOMEDCT_US_2023_03_01:254998002 UMLS_CUI:C0346352 Cavernous Angioma of orbit disease_ontology DOID:14463 cavernous hemangioma of orbit A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. GARD:7195 ICD10CM:G21.0 ICD9CM:333.92 MESH:D009459 NCI:C94829 ORDO:94093 SNOMEDCT_US_2023_03_01:15244003 UMLS_CUI:C0027849 disease_ontology DOID:14464 neuroleptic malignant syndrome A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561 A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. GARD:69 MESH:D018804 NCI:C84747 SNOMEDCT_US_2023_03_01:120639003 UMLS_CUI:C0243025 disease_ontology DOID:14472 hantavirus pulmonary syndrome A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and 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 A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. ICD10CM:O26.4 MESH:D006559 NCI:C85003 SNOMEDCT_US_2023_03_01:86081009 UMLS_CUI:C0019343 Gestational herpes herpes gestationis disease_ontology DOID:14482 pemphigoid gestationis A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/ NCI:C6175 UMLS_CUI:C1336876 lymphoma of ureter disease_ontology DOID:14489 ureteral lymphoma NCI:C9356 UMLS_CUI:C0854921 regional Ureteric carcinoma regional malignant ureteral tumor disease_ontology DOID:14491 regional ureteric cancer ICD10CM:K91.1 MESH:D004377 NCI:C2994 SNOMEDCT_US_2023_03_01:155785007 UMLS_CUI:C0013288 Dumping (jejunal) syndrome Jejunal syndrome disease_ontology DOID:14495 dumping syndrome A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. GARD:7899 ICD10CM:E75.5 MESH:D015223 NCI:C61271 OMIM:620151 ORDO:75233 SNOMEDCT_US_2023_03_01:82500001 UMLS_CUI:C0043208 Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency disease_ontology DOID:14497 Wolman disease ICD10CM:E75.5 OMIM:620151 ORDO:75233 A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. url:https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ url:https://www.ncbi.nlm.nih.gov/books/NBK395569/ GARD:3268 MESH:D008065 NCI:C84829 OMIM:247100 SNOMEDCT_US_2023_03_01:38692000 UMLS_CUI:C0023795 Lipid proteinosis URBACH-WIETHE DISEASE disease_ontology DOID:14498 OMIM mapping confirmed by DO. [SN]. lipoid proteinosis A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. GARD:6400 ICD10CM:E75.21 MESH:D000795 NCI:C84701 OMIM:301500 SNOMEDCT_US_2023_03_01:16652001 UMLS_CUI:C0002986 Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase disease_ontology DOID:14499 OMIM mapping confirmed by DO. [SN]. Fabry disease A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. url:https://ghr.nlm.nih.gov/condition/fabry-disease GARD:6473 ICD10CM:E77.1 MESH:D005645 NCI:C61274 OMIM:230000 SNOMEDCT_US_2023_03_01:64716005 UMLS_CUI:C0016788 A-fucosidase deficiency alpha fucosidase deficiency disease_ontology DOID:14500 OMIM mapping confirmed by DO. [SN]. fucosidosis A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. GARD:7654 MESH:D016111 NCI:C85070 OMIM:270200 ORDO:816 SNOMEDCT_US_2023_03_01:111303009 UMLS_CUI:C0037231 FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency disease_ontology DOID:14501 OMIM mapping confirmed by DO. [LS]. Sjogren-Larsson syndrome A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. url:https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome url:https://www.omim.org/entry/270200 GARD:10739 ICD10CM:E75.4 MESH:D009472 NCI:C61257 OMIM:PS256730 ORDO:216 ORDO:79262 SNOMEDCT_US_2023_03_01:42012007 UMLS_CUI:C0027877 hereditary ceroid lipofuscinosis disease_ontology DOID:14503 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. neuronal ceroid lipofuscinosis A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. DOID:0050442 DOID:0050443 DOID:14770 GARD:13334 ICD10CM:E75.24 MESH:D009542 NCI:C61269 SNOMEDCT_US_2023_03_01:58459009 UMLS_CUI:C0028064 Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis disease_ontology DOID:14504 OMIM mapping confirmed by DO. [SN]. Niemann-Pick disease A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. url:https://en.wikipedia.org/wiki/Niemann-Pick_disease url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease A chromosomal deletion syndrome 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. GARD:5528 MESH:D017624 NCI:C3718 OMIM:194072 SNOMEDCT_US_2023_03_01:715215007 UMLS_CUI:C0206115 11p partial monosomy syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome disease_ontology DOID:14515 OMIM mapping confirmed by DO. [LS]. WAGR syndrome A chromosomal deletion syndrome 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 ICD10CM:H34.21 ICD9CM:362.33 NCI:C35192 SNOMEDCT_US_2023_03_01:776009 UMLS_CUI:C0154839 Retinal partial arterial occlusion partial retinal arterial occlusion disease_ontology DOID:14522 partial arterial retinal occlusion 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. GARD:7570 ICD10CM:G93.7 ICD9CM:331.81 MESH:D012202 NCI:C34983 SNOMEDCT_US_2023_03_01:74351001 UMLS_CUI:C0035400 Reye's syndrome disease_ontology DOID:14525 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. url:https://en.wikipedia.org/wiki/Reye_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2680560 NCI:C5367 UMLS_CUI:C1334569 MPNST of Heart disease_ontology DOID:14534 malignant cardiac peripheral nerve sheath neoplasm NCI:C5371 SNOMEDCT_US_2023_03_01:866080006 UMLS_CUI:C1334566 malignant cardiac germ cell tumour malignant germ cell tumor of the Heart malignant germ cell tumour of the Heart disease_ontology DOID:14535 malignant cardiac germ cell tumor A rete testis neoplasm that derives_from epithelial cells of glandular origin. NCI:C8955 UMLS_CUI:C0863024 adenocarcinoma of the rete testis disease_ontology adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma A rete testis neoplasm that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. NCI:C39906 UMLS_CUI:C1519233 disease_ontology DOID:14545 seminal vesicle adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:C31.3 ICD9CM:160.5 NCI:C3543 SNOMEDCT_US_2023_03_01:94067008 UMLS_CUI:C0153479 malignant tumor of Sphenoidal sinus malignant tumor of sphenoid sinus disease_ontology DOID:14546 sphenoidal sinus cancer A squamous cell carcinoma that is located_in the sphenoid sinus. NCI:C6066 SNOMEDCT_US_2023_03_01:1255660002 UMLS_CUI:C1336039 Epidermoid carcinoma of the Sphenoidal sinus disease_ontology DOID:14547 sphenoid sinus squamous cell carcinoma A squamous cell carcinoma that is located_in the sphenoid sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/25748513 An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. GARD:6493 ICD10CM:K14.1 ICD9CM:529.1 MESH:D005929 NCI:C84588 OMIM:137400 SNOMEDCT_US_2023_03_01:59032001 UMLS_CUI:C0017677 Glossitis areata exfoliativa Pityriasis linguae benign migratory glossitis disease_ontology DOID:1455 OMIM mapping confirmed by DO. [SN]. geographic tongue 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 ICD10CM:K14.0 ICD9CM:529.0 MESH:D005928 NCI:C112199 SNOMEDCT_US_2023_03_01:155666003 UMLS_CUI:C0017675 disease_ontology DOID:1456 glossitis A thyroid gland disease which involves an underproduction of thyroid hormone. DOID:11630 EFO:0004705 ICD10CM:E03.9 ICD9CM:244.9 MESH:D007037 NCI:C26800 SNOMEDCT_US_2023_03_01:267465007 UMLS_CUI:C0020676 Thyroid deficiency Thyroid insufficiency disease_ontology DOID:1459 hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone. url:https://medlineplus.gov/hypothyroidism.html GARD:7318 ICD10CM:H47.1 ICD9CM:377.0 MESH:D010211 NCI:C3307 SNOMEDCT_US_2023_03_01:423488006 UMLS_CUI:C0030353 disease_ontology DOID:146 papilledema ICD10CM:N41.9 ICD9CM:601.9 MESH:D011472 NCI:C26866 SNOMEDCT_US_2023_03_01:155907007 UMLS_CUI:C0033581 disease_ontology DOID:14654 prostatitis A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. GARD:4870 ICD10CM:Q87.19 MESH:D056730 NCI:C85068 OMIM:180860 SNOMEDCT_US_2023_03_01:15069006 UMLS_CUI:C0175693 Silver Russell Dwarfism disease_ontology DOID:14681 OMIM mapping confirmed by DO. [LS]. Silver-Russell syndrome A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. url:https://ghr.nlm.nih.gov/condition/russell-silver-syndrome url:https://rarediseases.org/rare-diseases/russell-silver-syndrome/ An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. GARD:5701 ICD10CM:Q13.81 MESH:C535679 NCI:C131001 ORDO:782 SNOMEDCT_US_2023_03_01:47507006 UMLS_CUI:C0265341 Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly disease_ontology Hagedoom syndrome DOID:14686 Xref MGI. OMIM mapping confirmed by DO. [SN]. Axenfeld-Rieger syndrome An eye 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 An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. GARD:6275 ICD10CM:Q77.5 MESH:C536170 NCI:C156311 OMIM:222600 SNOMEDCT_US_2023_03_01:58561002 UMLS_CUI:C0220726 disease_ontology DOID:14687 OMIM mapping confirmed by DO. [SN]. 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. 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/ DOID:4366 GARD:5683 ICD10CM:E78.72 MESH:D019082 NCI:C85071 OMIM:270400 SNOMEDCT_US_2023_03_01:43929004 UMLS_CUI:C0175694 Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome disease_ontology DOID:14692 OMIM mapping confirmed by DO. [LS]. Smith-Lemli-Opitz syndrome A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. GARD:2422 ICD10CM:E74.29 MESH:D005693 NCI:C114767 OMIM:230200 SNOMEDCT_US_2023_03_01:124302001 UMLS_CUI:C0268155 Galactosemia II disease_ontology DOID:14695 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Galactokinase_deficiency A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. ICD10CM:Q87.2 MESH:C536940 NCI:C99038 OMIM:274000 ORDO:3320 SNOMEDCT_US_2023_03_01:85589009 UMLS_CUI:C0175703 Radial aplasia-thrombocytopenia syndrome Thrombocytopenia with absent radii (TAR) syndrome disease_ontology DOID:14699 OMIM mapping confirmed by DO. [LS]. thrombocytopenia-absent radius syndrome A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK23758/ A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. DOID:10614 DOID:2240 DOID:2241 DOID:7580 EFO:0003761 ICD10CM:F32 ICD10CM:F33.9 ICD9CM:296.2 ICD9CM:296.3 NCI:C34796 OMIM:608520 OMIM:608691 SNOMEDCT_US_2023_03_01:268621008 SNOMEDCT_US_2023_03_01:36923009 UMLS_CUI:C0024517 UMLS_CUI:C0154409 clinical depression major depression recurrent major depression single major depressive episode unipolar depression disease_ontology DOID:1470 Xref MGI. major depressive disorder A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. url:http://en.wikipedia.org/wiki/Major_depressive_disorder url:https://pubmed.ncbi.nlm.nih.gov/30333763 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. DOID:14706 GARD:467 ICD10CM:E71.121 MESH:D056693 NCI:C85030 OMIM:606054 SNOMEDCT_US_2023_03_01:69080001 UMLS_CUI:C0268579 UMLS_CUI:C2717876 GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency disease_ontology DOID:14701 OMIM mapping confirmed by DO. [SN]. propionic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. url:http://en.wikipedia.org/wiki/Propionic_acidemia A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. GARD:10147 MEDDRA:10071135 MESH:D019280 NCI:C98983 SNOMEDCT_US_2023_03_01:290006 UMLS_CUI:C0265234 Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia disease_ontology DOID:14702 OMIM mapping confirmed by DO. [SN]. branchiootorenal syndrome A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/263442 An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. GARD:7380 MESH:D000168 NCI:C99100 OMIM:101600 ORDO:710 SNOMEDCT_US_2023_03_01:70410008 UMLS_CUI:C0220658 acrocephalosyndactylia type V disease_ontology DOID:14705 OMIM mapping confirmed by DO. [SN]. Pfeiffer syndrome 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.healthline.com/galecontent/pfeiffer-syndrome url:https://www.faces-cranio.org/pfeiffer A congenital structural 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. GARD:101 ICD10CM:G71.22 MESH:D020914 NCI:C84648 ORDO:595 ORDO:596 ORDO:69186 ORDO:69189 SNOMEDCT_US_2023_03_01:193223007 UMLS_CUI:C0175709 myotubular myopathy disease_ontology DOID:14717 Xref MGI. centronuclear myopathy A congenital structural 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 An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. MESH:C536194 NCI:C125696 OMIM:130000 SNOMEDCT_US_2023_03_01:83470009 UMLS_CUI:C0268335 Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome disease_ontology DOID:14720 OMIM mapping confirmed by DO. [LS]. Ehlers-Danlos syndrome classic type 1 An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. GARD:5979 MESH:D054179 NCI:C84758 OMIM:PS106100 ORDO:91378 SNOMEDCT_US_2023_03_01:82966003 UMLS_CUI:C0019243 HANE Hereditary angioneurotic edema disease_ontology DOID:14735 OMIM mapping confirmed by DO. [SN]. hereditary angioedema MESH:D054179 OMIM:PS106100 ORDO:91378 An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. url:https://medlineplus.gov/genetics/condition/hereditary-angioedema/ A syndrome 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 MESH:C536820 NCI:C75109 OMIM:190350 ORDO:77258 SNOMEDCT_US_2023_03_01:239016009 UMLS_CUI:C0432233 trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome disease_ontology Trichorhinophalangeal dysplasia type I DOID:14743 OMIM mapping confirmed by DO. [LS]. trichorhinophalangeal syndrome type I A syndrome 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 A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. GARD:10091 ICD10CM:Q87.3 MESH:D058495 NCI:C75019 OMIM:PS117550 ORDO:821 SNOMEDCT_US_2023_03_01:75968004 UMLS_CUI:C0175695 cerebral gigantism disease_ontology DOID:14748 Xref MGI. Sotos syndrome A syndrome 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 url:https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome A benign vascular tumor that is composed of dilated lymphatic channels. GARD:9789 ICD10CM:D18.1 ICD9CM:228.1 ICDO:9170/0 MESH:D008202 NCI:C8965 SNOMEDCT_US_2023_03_01:154625006 UMLS_CUI:C0024221 Congenital lymphangioma benign lymphangioma disease_ontology DOID:1475 lymphangioma A benign vascular tumor that is composed of dilated lymphatic channels. url:https://en.wikipedia.org/wiki/Lymphangioma An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. GARD:465 ICD10CM:E71.110 MESH:C538167 NCI:C98964 OMIM:243500 SNOMEDCT_US_2023_03_01:87827003 UMLS_CUI:C0268575 Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria disease_ontology DOID:14753 OMIM mapping confirmed by DO. [SN]. isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. url:http://en.wikipedia.org/wiki/Isovaleric_acidemia An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. GARD:5843 MESH:D056807 NCI:C84569 OMIM:207900 SNOMEDCT_US_2023_03_01:41013004 UMLS_CUI:C0268547 Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase disease_ontology DOID:14755 OMIM mapping confirmed by DO. [SN]. argininosuccinic aciduria 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 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. GARD:2082 NCI:C125699 OMIM:130050 ORDO:286 autosomal dominant type IV Ehlers-Danlos syndrome disease_ontology DOID:14756 vascular type Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. url:https://pubmed.ncbi.nlm.nih.gov/21637106/ An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. GARD:2081 ICD10CM:Q79.62 MESH:C536196 NCI:C125698 OMIM:130020 SNOMEDCT_US_2023_03_01:30652003 UMLS_CUI:C0268337 Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome disease_ontology DOID:14757 OMIM mapping confirmed by DO. [LS]. Ehlers-Danlos syndrome hypermobility type An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ 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:9251 GARD:6550 MESH:C537300 NCI:C35255 OMIM:175700 SNOMEDCT_US_2023_03_01:32985001 UMLS_CUI:C0265306 polysyndactyly with peculiars skull shape disease_ontology DOID:14761 OMIM mapping confirmed by DO. [SN]. 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. 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 An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. GARD:7598 MESH:D000168 NCI:C75034 OMIM:101400 OMIM:180750 ORDO:794 SNOMEDCT_US_2023_03_01:390726000 UMLS_CUI:C0175699 disease_ontology acrocephalosyndactyly type III DOID:14768 OMIM mapping confirmed by DO. [SN]. 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. 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.healthline.com/galecontent/saethre-chotzen-syndrome url:https://www.faces-cranio.org/saethre-chotzen An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. DOID:0080022 MESH:C535916 NCI:C61245 OMIM:250250 SNOMEDCT_US_2023_03_01:234421004 UMLS_CUI:C0220748 CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type disease_ontology DOID:14773 OMIM mapping confirmed by DO. [SN]. cartilage-hair hypoplasia An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. url:https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia url:https://www.ncbi.nlm.nih.gov/pubmed/11207361 An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. GARD:1019 MESH:C536198 NCI:C125700 OMIM:229200 SNOMEDCT_US_2023_03_01:25606004 UMLS_CUI:C0268342 type VIB Ehlers-Danlos syndrome disease_ontology DOID:14775 OMIM mapping confirmed by DO. [LS]. brittle cornea syndrome 1 An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ 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 MESH:D009849 NCI:C84947 SNOMEDCT_US_2023_03_01:67761004 UMLS_CUI:C0028968 Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME disease_ontology DOID:14784 OMIM mapping confirmed by DO. [SN]. 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. url:http://www.ninds.nih.gov/disorders/opca/opca.htm A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. GARD:634 MESH:D057130 NCI:C129075 OMIM:PS204000 ORDO:65 SNOMEDCT_US_2023_03_01:193413001 UMLS_CUI:C0339527 LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease disease_ontology DOID:14791 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leber congenital amaurosis 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 An ectodermal dysplasia 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). DOID:0050446 DOID:0050447 GARD:76 MESH:D053358 NCI:C84562 ORDO:238468 SNOMEDCT_US_2023_03_01:239007005 UMLS_CUI:C0162359 disease_ontology DOID:14793 OMIM mapping confirmed by DO. [SN]. hypohidrotic ectodermal dysplasia An ectodermal dysplasia 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 A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. GARD:6290 ICD10CM:Q87.19 MEDDRA:10059589 MESH:C535718 NCI:C125591 OMIM:223370 SNOMEDCT_US_2023_03_01:2593002 UMLS_CUI:C0175691 Dubowitz's syndrome disease_ontology DOID:14796 OMIM mapping confirmed by DO. [SN]. Dubowitz syndrome A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. url:http://en.wikipedia.org/wiki/Dubowitz_syndrome A periodontal disease that is located_in the gums. MESH:D005882 NCI:C173795 SNOMEDCT_US_2023_03_01:18718003 UMLS_CUI:C0017563 gum disease disease_ontology DOID:1483 gingival disease A periodontal disease that is located_in the gums. url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. DOID:12447 DOID:13383 DOID:14395 DOID:1484 GARD:6233 ICD10CM:E84 ICD9CM:277.0 MESH:D003550 NCI:C2975 OMIM:219700 ORDO:586 SNOMEDCT_US_2023_03_01:85809002 UMLS_CUI:C0010674 CF mucoviscidosis disease_ontology DOID:1485 OMIM mapping confirmed by DO. [SN]. cystic fibrosis MESH:D003550 A syndrome 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/ url:https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis 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:2783 ICD10CM:B67 ICD9CM:122 MESH:D004443 NCI:C84682 SNOMEDCT_US_2023_03_01:154414008 UMLS_CUI:C0013502 Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis disease_ontology DOID:1496 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. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis A disease of anatomical entity that is located_in reproductive system organs. DOID:6309 NCI:C27613 UMLS_CUI:C1335037 genital system disease disease_ontology DOID:15 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system 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. ICD10CM:F99 MESH:D001523 NCI:C2893 SNOMEDCT_US_2023_03_01:74732009 UMLS_CUI:C0004936 disease_ontology DOID:150 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. url:http://en.wikipedia.org/wiki/Mental_disorder 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 ICD10CM:B37 ICD9CM:112 MESH:D002177 NCI:C26711 SNOMEDCT_US_2023_03_01:154403005 UMLS_CUI:C0006840 Disseminated candidiasis systemic candidiasis disease_ontology DOID:1508 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/ 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. ICD10CM:F60.6 ICD9CM:301.82 MESH:D010554 NCI:C92636 SNOMEDCT_US_2023_03_01:191771004 UMLS_CUI:C0004444 anxious personality disorder disease_ontology DOID:1509 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. url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder A cervicitis that is present for weeks or more. NCI:C27057 SNOMEDCT_US_2023_03_01:198210003 UMLS_CUI:C0269062 disease_ontology DOID:1513 chronic cervicitis A cervicitis that is present for weeks or more. url:https://www.ncbi.nlm.nih.gov/pubmed/27243142 An intestinal benign neoplasm that is located_in the cecum. MESH:D002430 NCI:C4433 SNOMEDCT_US_2023_03_01:126839008 UMLS_CUI:C0007528 cecum neoplasm neoplasm of caecum disease_ontology DOID:1517 cecal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3491 SNOMEDCT_US_2023_03_01:269538009 UMLS_CUI:C0149640 Caecum carcinoma Cecal cancer carcinoma of cecum disease_ontology DOID:1519 cecum carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4910 SNOMEDCT_US_2023_03_01:154454005 UMLS_CUI:C0699790 Colonic carcinoma carcinoma of colon disease_ontology DOID:1520 OMIM mapping confirmed by DO. [SN]. colon carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A large intestine cancer that is located_in the cecum. ICD10CM:C18.0 ICD9CM:153.4 MESH:D002430 NCI:C9329 SNOMEDCT_US_2023_03_01:93736007 UMLS_CUI:C0153437 malignant neoplasm of caecum malignant tumor of the cecum disease_ontology DOID:1521 cecum cancer A large intestine cancer that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum NCI:C5515 UMLS_CUI:C1332867 Cecal Lymphoma disease_ontology DOID:1522 cecum lymphoma NCI:C4793 SNOMEDCT_US_2023_03_01:133751000119102 UMLS_CUI:C0519037 Colonic Lymphoma disease_ontology DOID:1523 colon lymphoma A skin disease that is characterized by inflammation of subcutaneous adipose tissue. ICD10CM:M79.3 ICD9CM:729.30 MESH:D015434 NCI:C112112 SNOMEDCT_US_2023_03_01:268122002 UMLS_CUI:C0030326 disease_ontology DOID:1526 panniculitis A skin disease that is characterized by inflammation of subcutaneous adipose tissue. url:https://en.wikipedia.org/wiki/Panniculitis 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 MESH:D010995 NCI:C26859 SNOMEDCT_US_2023_03_01:88075009 UMLS_CUI:C0032226 disorder of pleura non-neoplastic pleural disease disease_ontology DOID:1532 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. url:http://en.wikipedia.org/wiki/Pleural_disease A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. DOID:1905 MESH:D018198 NCI:C3729 NCI:C6930 SNOMEDCT_US_2023_03_01:8145008 UMLS_CUI:C0206625 UMLS_CUI:C1368354 malignant mixed cancer malignant mixed neoplasm mixed tumor mixed tumor, malignant disease_ontology malignant mixed tumor mixed neoplasm DOID:154 mixed cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm An endocrine gland cancer located_in the parathyroid glands located in the neck. DOID:11006 DOID:1541 GARD:7329 ICD10CM:C75.0 ICD9CM:194.1 MESH:D010282 NCI:C3313 NCI:C4906 NCI:C9322 OMIM:608266 SNOMEDCT_US_2023_03_01:127020005 SNOMEDCT_US_2023_03_01:255037004 SNOMEDCT_US_2023_03_01:363481002 UMLS_CUI:C0030521 UMLS_CUI:C0153653 UMLS_CUI:C0687150 Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm disease_ontology parathyroid gland adenocarcinoma DOID:1540 OMIM mapping confirmed by DO. [SN]. parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. url:http://en.wikipedia.org/wiki/Parathyroid_gland 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. NCI:C6077 UMLS_CUI:C1334927 carcinoma of the neck disease_ontology carcinoma of neck DOID:1542 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. 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 A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. ICD10CM:T78.41 ICD9CM:995.21 MESH:D001183 NCI:C34400 SNOMEDCT_US_2023_03_01:402413008 UMLS_CUI:C0003907 Arthus phenomenon Arthus type urticaria disease_ontology DOID:1556 arthus reaction A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. url:https://en.wikipedia.org/wiki/Arthus_reaction A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. ICD10CM:T78.3 MESH:D000799 NCI:C112175 SNOMEDCT_US_2023_03_01:41291007 UMLS_CUI:C0002994 Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria disease_ontology DOID:1558 angioedema A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. url:http://en.wikipedia.org/wiki/Angioedema url:https://www.ncbi.nlm.nih.gov/books/NBK430889/ A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. ICD10CM:F09 MESH:D019965 NCI:C34870 SNOMEDCT_US_2023_03_01:111479008 UMLS_CUI:C0029227 cognitive disease disease_ontology Organic Mental disorder DOID:1561 cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. url:http://en.wikipedia.org/wiki/Cognitive_disorder 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. ICD10CM:B49 ICD9CM:110-118.99 MESH:D009181 NCI:C3245 SNOMEDCT_US_2023_03_01:154393000 UMLS_CUI:C0026946 mycosis disease_ontology mycoses DOID:1564 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. url:http://en.wikipedia.org/wiki/Mycoses ICD10CM:G91.0 ICD9CM:331.3 MESH:D006849 NCI:C34501 SNOMEDCT_US_2023_03_01:59013007 UMLS_CUI:C0009451 disease_ontology DOID:1573 communicating hydrocephalus A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. ICD10CM:F10.1 ICD9CM:305.0 MESH:D000437 NCI:C20701 SNOMEDCT_US_2023_03_01:15167005 UMLS_CUI:C0085762 Ethanol abuse alcohol abuse disease_ontology DOID:1574 alcohol use disorder A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. url:http://en.wikipedia.org/wiki/Alcohol_abuse url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders MESH:D045743 NCI:C116791 SNOMEDCT_US_2023_03_01:128460000 UMLS_CUI:C1258104 diffuse systemic sclerosis systemic sclerosis, diffuse disease_ontology DOID:1580 diffuse scleroderma A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. ICD10CM:A15.5 ICD9CM:012.3 MESH:D014387 NCI:C26895 SNOMEDCT_US_2023_03_01:70341005 UMLS_CUI:C0041315 disease_ontology DOID:1583 laryngeal tuberculosis 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 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. ICD9CM:517.3 MESH:D056586 NCI:C138179 SNOMEDCT_US_2023_03_01:372146004 UMLS_CUI:C0742343 acute chest syndrome in sickle cell disease disease_ontology DOID:1584 acute chest syndrome MESH:D056586 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 A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. DOID:1006 DOID:1007 GARD:5699 ICD10CM:I00 ICD10CM:I00-I02 ICD9CM:390 ICD9CM:390-392.99 MESH:D012213 NCI:C34984 SNOMEDCT_US_2023_03_01:155265007 SNOMEDCT_US_2023_03_01:274095001 UMLS_CUI:C0035436 UMLS_CUI:C0264743 ACUTE RHEUMATIC FEVER RhF - Rheumatic fever disease_ontology DOID:1586 rheumatic fever MESH:D012213 A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. url:https://en.wikipedia.org/wiki/Rheumatic_fever url:https://medlineplus.gov/ency/article/003940.htm NCI:C3991 SNOMEDCT_US_2023_03_01:2897005 UMLS_CUI:C0272286 Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction disease_ontology DOID:1587 thrombocytopenia due to platelet alloimmunization ICD10CM:I15.0 MESH:D006978 NCI:C85044 SNOMEDCT_US_2023_03_01:123799005 UMLS_CUI:C0020545 disease_ontology DOID:1591 renovascular hypertension A major depressive disorder characterized by near-complete absence of pleasure. DOID:2848 DOID:6340 MESH:D003866 NCI:C34532 NCI:C35094 OMIM:608516 SNOMEDCT_US_2023_03_01:191599006 UMLS_CUI:C0011573 UMLS_CUI:C0041696 endogenous depression major depressive disorder with melancholic features melancholia disease_ontology DOID:1595 OMIM mapping confirmed by DO. [LS]. melancholic depression A major depressive disorder characterized by near-complete absence of pleasure. url:https://pubmed.ncbi.nlm.nih.gov/15596079/ A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. DOID:14672 ICD10CM:F33.9 MESH:D003863 NCI:C2982 SNOMEDCT_US_2023_03_01:41006004 UMLS_CUI:C0011570 mental depression disease_ontology depression DOID:1596 depressive disorder UMLS_CUI:C0011570 MESH:D003866 NCI:C2982 SNOMEDCT_US_2023_02_28:35489007 A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. url:https://my.clevelandclinic.org/health/diseases/9290-depression url:https://pubmed.ncbi.nlm.nih.gov/31550874/ A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. DOID:1600 DOID:9941 ICD10CM:I88.1 ICD10CM:L04 ICD9CM:289.1 ICD9CM:683 MESH:D008199 NCI:C26821 NCI:C26966 NCI:C26978 SNOMEDCT_US_2023_03_01:154836001 SNOMEDCT_US_2023_03_01:156318008 SNOMEDCT_US_2023_03_01:19471005 UMLS_CUI:C0024205 UMLS_CUI:C0154304 UMLS_CUI:C0157705 Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis disease_ontology DOID:1602 This doid includes the acute and chronic forms.[LS] lymphadenitis A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. ICD10CM:E15 ICD9CM:251.0 NCI:C181765 SNOMEDCT_US_2023_03_01:267476006 UMLS_CUI:C0020617 disease_ontology DOID:1607 hypoglycemic coma A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. url:https://en.wikipedia.org/wiki/Hypoglycemia url:https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/ A skin disease characterized_by growth of keratin on the skin or mucous membranes. MESH:D007642 NCI:C34747 SNOMEDCT_US_2023_03_01:254666005 UMLS_CUI:C0022593 disease_ontology DOID:161 keratosis A skin disease characterized_by growth of keratin on the skin or mucous membranes. url:https://en.wikipedia.org/wiki/Keratosis A thoracic cancer that originates in the mammary gland. DOID:1648 DOID:4241 ICD10CM:C50 MESH:D001943 NCI:C9335 OMIM:114480 SNOMEDCT_US_2023_03_01:254837009 UMLS_CUI:C0006142 breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer disease_ontology mammary neoplasm DOID:1612 Xref MGI. OMIM mapping confirmed by DO. [SN]. breast cancer 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 url:https://www.genome.gov/Genetic-Disorders/Breast-Cancer A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). NCI:C5193 UMLS_CUI:C1332492 disease_ontology DOID:1616 benign eccrine breast spiradenoma A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). url:https://www.ncbi.nlm.nih.gov/pubmed/25284865/ url:https://www.ncbi.nlm.nih.gov/pubmed/26236527/ A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. DOID:2684 DOID:2693 DOID:7226 ICD10CM:D24 MESH:D018226 NCI:C3744 NCI:C4276 NCI:C5194 SNOMEDCT_US_2023_03_01:254847007 SNOMEDCT_US_2023_03_01:269640007 SNOMEDCT_US_2023_03_01:65877006 UMLS_CUI:C0178421 UMLS_CUI:C0206650 UMLS_CUI:C0346158 UMLS_CUI:C1333137 Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast disease_ontology DOID:1618 breast fibroadenoma 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 A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. ICD10CM:C80.1 ICD9CM:199 ICDO:8000/3 MESH:D009369 NCI:C9305 SNOMEDCT_US_2023_03_01:269513004 UMLS_CUI:C0006826 malignant neoplasm malignant tumor primary cancer disease_ontology DOID:162 Updating out dated UMLS CUI. cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. url:http://en.wikipedia.org/wiki/cancer url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer A breast benign neoplasm that has_material_basis_in smooth muscle cells. NCI:C40399 UMLS_CUI:C1511317 disease_ontology DOID:1623 breast leiomyoma A breast benign neoplasm that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. NCI:C40382 SNOMEDCT_US_2023_03_01:269640007 UMLS_CUI:C1328385 Ademoma - breast disease_ontology DOID:1625 breast adenoma A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. url:https://www.ncbi.nlm.nih.gov/pubmed/949710 An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. NCI:C3863 SNOMEDCT_US_2023_03_01:254848002 UMLS_CUI:C0238034 duct papilloma of breast papilloma of the breast disease_ontology DOID:1626 breast duct papilloma An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. url:https://en.wikipedia.org/wiki/Intraductal_papilloma ICDO:8503/0 MESH:D018300 NCI:C3785 SNOMEDCT_US_2023_03_01:5244003 UMLS_CUI:C0206713 ductal papilloma disease_ontology DOID:1627 intraductal papilloma An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. NCI:C36090 UMLS_CUI:C1334252 disease_ontology DOID:1628 intraductal papillary breast neoplasm An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. url:https://www.ncbi.nlm.nih.gov/pubmed/22336153 A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. NCI:C40397 UMLS_CUI:C1511320 disease_ontology DOID:1629 breast myofibroblastoma A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. url:http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/ A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. DOID:1633 DOID:2608 ICD10CM:D48.6 MESH:D003557 NCI:C2977 NCI:C4274 NCI:C5196 SNOMEDCT_US_2023_03_01:16566002 SNOMEDCT_US_2023_03_01:71232009 SNOMEDCT_US_2023_03_01:720344007 UMLS_CUI:C0010701 UMLS_CUI:C0334501 UMLS_CUI:C1332533 Cystosarcoma phyllodes Phyllodes neoplasm benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes disease_ontology DOID:1631 benign breast phyllodes tumor A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. url:https://en.wikipedia.org/wiki/Phyllodes_tumor A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. NCI:C40381 UMLS_CUI:C1511284 disease_ontology DOID:1637 breast angiomatosis A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. url:http://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/23488550 A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. NCI:C5144 UMLS_CUI:C1332477 benign Adenomyoepithelioma of the breast disease_ontology DOID:1641 benign breast adenomyoepithelioma A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23627458 A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. DOID:6640 NCI:C5143 NCI:C6899 UMLS_CUI:C1334564 UMLS_CUI:C1510795 breast Adenomyoepithelioma with malignant Change malignant adenomyoepithelioma of breast disease_ontology adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma 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 A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. GARD:7853 ICD10CM:Q21.0 ICD9CM:745.4 MESH:D006345 NCI:C84506 OMIM:614429 OMIM:614431 OMIM:614432 ORDO:1480 SNOMEDCT_US_2023_03_01:156914003 UMLS_CUI:C0018818 Interventricular septal defect Ventricular septal abnormality disease_ontology DOID:1657 Xref MGI. ventricular septal defect 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 A brain cancer that is located in the supratentorial region. DOID:1658 ICD10CM:C71.0 MESH:D015173 NCI:C3397 NCI:C4964 UMLS_CUI:C0038874 UMLS_CUI:C0751589 Brain neoplasm, Supratentorial malignant Supratentorial tumor disease_ontology DOID:1659 supratentorial cancer A brain cancer that is located in the supratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli ICDO:9363/0 MESH:D017600 NCI:C3717 SNOMEDCT_US_2023_03_01:1513001 UMLS_CUI:C0206094 Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour disease_ontology DOID:166 melanotic neuroectodermal tumor DOID:1663 GARD:12017 NCI:C4659 NCI:C6767 SNOMEDCT_US_2023_03_01:277508009 UMLS_CUI:C0349621 UMLS_CUI:C1334612 Pineal Region germ cell tumor malignant Pineal Parenchymal germ cell tumor pineal germ cell tumor disease_ontology DOID:1660 malignant pineal area germ cell neoplasm A pineal gland neoplasm located_in the brain. GARD:9369 ICDO:9362/3 MESH:D010871 NCI:C9344 SNOMEDCT_US_2023_03_01:31671006 UMLS_CUI:C0205898 Pineal PNET disease_ontology DOID:1664 pineoblastoma A pineal gland neoplasm located_in the brain. url:http://en.wikipedia.org/wiki/Pinealoblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/28327927 DOID:12407 DOID:12810 DOID:12982 DOID:1669 DOID:1671 DOID:7354 DOID:8473 DOID:8522 ICD9CM:711.2 NCI:C35225 SNOMEDCT_US_2023_03_01:62918002 UMLS_CUI:C0157770 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 disease_ontology DOID:1670 Behcet's syndrome arthropathy A bladder disease that is characterized by inflammation of the bladder. ICD10CM:N30 ICD9CM:595 MESH:D003556 NCI:C26738 SNOMEDCT_US_2023_03_01:38822007 UMLS_CUI:C0010692 disease_ontology DOID:1679 cystitis A bladder disease that is characterized by inflammation of the bladder. url:https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306 ICD10CM:Q21.9 MESH:D006343 NCI:C84482 SNOMEDCT_US_2023_03_01:204290008 UMLS_CUI:C0018816 Cardiac septal defects Congenital septal defect of heart septal defect disease_ontology DOID:1681 heart septal defect ICD10CM:Q24.9 ICD9CM:746.9 MESH:D006330 NCI:C34666 SNOMEDCT_US_2023_03_01:268315002 UMLS_CUI:C0018798 Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect disease_ontology Heart-congenital defect DOID:1682 OMIM mapping confirmed by DO. [SN]. congenital heart disease An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. ICD10CM:H40 ICD9CM:365 MESH:D005901 NCI:C26782 SNOMEDCT_US_2023_03_01:155120009 UMLS_CUI:C0017601 disease_ontology DOID:1686 glaucoma An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. url:https://en.wikipedia.org/wiki/Glaucoma url:https://www.aao.org/eye-health/diseases/what-is-glaucoma An endocrine gland cancer that has_material_basis_in neuroendocrine cells. ICD10CM:D3A.8 ICD9CM:209-209.99 ICDO:8240/3 MESH:D018358 NCI:C3809 SNOMEDCT_US_2023_03_01:55937004 UMLS_CUI:C0206754 neuroendocrine neoplasm disease_ontology DOID:169 neuroendocrine tumor 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 A disease of anatomical entity that occurs in the muscular and/or skeletal system. MESH:D009140 NCI:C107377 SNOMEDCT_US_2023_03_01:268047003 UMLS_CUI:C0026857 disease_ontology DOID:17 musculoskeletal system disease 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 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 ICD10CM:C75.9 ICD9CM:194.9 MESH:D004701 NCI:C3010 NCI:C3575 SNOMEDCT_US_2023_03_01:127015005 SNOMEDCT_US_2023_03_01:93780007 UMLS_CUI:C0014132 UMLS_CUI:C0153658 Endocrine tumor endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland neoplasm of endocrine system disease_ontology DOID:170 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. url:http://en.wikipedia.org/wiki/Endocrine_system An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. GARD:7904 ICD10CM:Q80.1 MESH:D016114 NCI:C84779 OMIM:308100 SNOMEDCT_US_2023_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 DOID:1700 OMIM mapping confirmed by DO. [LS]. X-linked ichthyosis An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. url:https://rarediseases.info.nih.gov/diseases/7904/disease url:https://www.omim.org/entry/308100 An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. GARD:6752 ICD10CM:Q80.0 MESH:D016112 NCI:C84778 OMIM:146700 SNOMEDCT_US_2023_03_01:205551004 UMLS_CUI:C0079584 Dominant congenital ichthyosiform erythroderma disease_ontology DOID:1702 OMIM mapping confirmed by DO. [SN]. ichthyosis vulgaris An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. url:https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754 GARD:7578 ICD10CM:C91.1 NCI:C35424 SNOMEDCT_US_2023_03_01:277550009 UMLS_CUI:C0349631 Richter syndrome disease_ontology DOID:1703 Richter's syndrome An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. DOID:12034 DOID:1711 GARD:5830 ICD10CM:I06.0 ICD10CM:Q23.0 ICD9CM:395.0 ICD9CM:746.3 MESH:D001024 NCI:C50462 SNOMEDCT_US_2023_03_01:155282009 SNOMEDCT_US_2023_03_01:18546004 SNOMEDCT_US_2023_03_01:60573004 UMLS_CUI:C0003507 UMLS_CUI:C0152417 UMLS_CUI:C0155567 Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis disease_ontology DOID:1712 Xref MGI. OMIM mapping confirmed by DO. [SN]. aortic valve stenosis MESH:D001024 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis url:https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis ICDO:8084/0 MESH:D049309 NCI:C97041 SNOMEDCT_US_2023_03_01:65540008 UMLS_CUI:C0333992 Pale (Clear cell) acanthoma disease_ontology DOID:172 clear cell acanthoma DOID:10297 DOID:11480 DOID:12880 DOID:13836 DOID:1723 DOID:9780 DOID:9781 DOID:9782 DOID:9783 ICD10CM:K26 ICD9CM:532 MESH:D004381 NCI:C26755 SNOMEDCT_US_2023_03_01:155691003 SNOMEDCT_US_2023_03_01:39755000 UMLS_CUI:C0010474 UMLS_CUI:C0013295 Curling Ulcer Curling's ulcers Stress Ulcer disease_ontology DOID:1724 Adding UMLS CUI for Curling Ulcer C0013295. duodenal ulcer ICD10CM:H34.82 NCI:C35341 SNOMEDCT_US_2023_03_01:65593009 UMLS_CUI:C0271080 Partial Retinal Vein Occlusion Partial occlusion of retinal vein disease_ontology DOID:1726 partial of retinal vein occlusion MESH:D012170 NCI:C34981 SNOMEDCT_US_2023_03_01:46085004 UMLS_CUI:C0035328 Occlusion, of retinal vein disease_ontology DOID:1727 retinal vein occlusion ICD10CM:H34 ICD9CM:362.3 NCI:C34980 SNOMEDCT_US_2023_03_01:267717005 UMLS_CUI:C0035326 Retinal vasc. occlusion disease_ontology DOID:1729 retinal vascular occlusion NCI:C6796 UMLS_CUI:C1333371 Eccrine tumor eccrine skin neoplasm disease_ontology DOID:173 eccrine sweat gland neoplasm 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:351 ICD10CM:B39 ICD9CM:115 MESH:C538362 MESH:D006660 NCI:C34977 NCI:C77201 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0019655 UMLS_CUI:C0035288 disease_ontology DOID:1731 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. url:http://www.cdc.gov/niosh/hi97146.html 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. DOID:1732 GARD:6219 ICD10CM:A07.2 ICD9CM:007.4 MESH:D003457 NCI:C128408 SNOMEDCT_US_2023_03_01:186126003 UMLS_CUI:C0010418 Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis disease_ontology DOID:1733 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. url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm MESH:D004379 NCI:C2995 SNOMEDCT_US_2023_03_01:126833009 UMLS_CUI:C0013291 neoplasm of duodenum neoplasm of the duodenum disease_ontology DOID:1737 duodenal benign neoplasm A small intestine benign neoplasm that is located_in the small intestine. NCI:C7725 SNOMEDCT_US_2023_03_01:424279009 UMLS_CUI:C0238197 leiomyoma, small Bowel disease_ontology DOID:1738 small intestine leiomyoma A small intestine benign neoplasm that is located_in the small intestine. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/ GARD:8604 MESH:D049309 NCI:C7419 UMLS_CUI:C0846967 disease_ontology DOID:174 acanthoma MESH:D049309 A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. NCI:C4549 SNOMEDCT_US_2023_03_01:255003007 UMLS_CUI:C0346359 Conjunctival Epidermoid carcinoma invasive squamous cell carcinoma of the conjunctiva ocular surface squamous neoplasia squamous cell carcinoma of conjunctiva disease_ontology DOID:1748 conjunctival squamous cell carcinoma A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19883851 url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 A carcinoma that derives_from squamous epithelial cells. DOID:5512 EFO:0000707 GARD:1091 ICDO:8070/3 MESH:D002294 MESH:D018307 NCI:C2929 SNOMEDCT_US_2023_03_01:1255006006 SNOMEDCT_US_2023_03_01:154605007 UMLS_CUI:C0007137 UMLS_CUI:C0751688 epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer disease_ontology DOID:1749 squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma A cardiovascular cancer that is located_in blood vessels. DOID:3339 DOID:5454 DOID:5548 DOID:7019 DOID:7020 DOID:7392 MESH:D019043 NCI:C5348 NCI:C5380 NCI:C5383 NCI:C5388 NCI:C7390 SNOMEDCT_US_2023_03_01:126737003 SNOMEDCT_US_2023_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 tumor Blood vessel tumors Blood vessel tumour disorder Haemangiomatous tumour blood vessel neoplasm 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 disease_ontology DOID:175 vascular cancer A cardiovascular cancer that is located_in blood vessels. url:http://en.wikipedia.org/wiki/Vascular NCI:C4550 SNOMEDCT_US_2023_03_01:255004001 UMLS_CUI:C0346360 Conjunctival melanoma malignant melanoma of conjunctiva disease_ontology DOID:1751 malignant conjunctival melanoma A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. MESH:D008946 NCI:C50654 SNOMEDCT_US_2023_03_01:79619009 UMLS_CUI:C0026269 Mitral stenosis disease_ontology DOID:1754 mitral valve stenosis 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 A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. ICD10CM:G51 ICD9CM:351 MESH:D005155 NCI:C27594 SNOMEDCT_US_2023_03_01:90039006 UMLS_CUI:C0015464 disease_ontology DOID:1756 facial nerve disease A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. url:https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp MESH:D005150 NCI:C84703 OMIM:141300 SNOMEDCT_US_2023_03_01:29868009 UMLS_CUI:C0015458 PARRY-ROMBERG SYNDROME disease_ontology DOID:1757 OMIM mapping confirmed by DO. [SN]. facial hemiatrophy An organ system cancer that located_in the heart and blood vessels. NCI:C4784 SNOMEDCT_US_2023_03_01:721573003 UMLS_CUI:C0497243 Cardiovascular tumors cardiovascular neoplasm disease_ontology DOID:176 cardiovascular cancer An organ system cancer that located_in the heart and blood vessels. url:http://www.cancer.gov/dictionary?CdrID=44005 url:https://www.ncbi.nlm.nih.gov/books/NBK537144/ NCI:C5827 SNOMEDCT_US_2023_03_01:126973004 UMLS_CUI:C1263899 neoplasm of facial nerve tumor of Facial nerve disease_ontology DOID:1760 facial nerve neoplasm GARD:7010 ICD10CM:G51.2 MESH:D008556 NCI:C84886 OMIM:155900 SNOMEDCT_US_2023_03_01:2511001 UMLS_CUI:C0025235 Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome disease_ontology DOID:1761 OMIM mapping confirmed by DO. [SN]. Melkersson-Rosenthal syndrome A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. ICD10CM:K13.0 MESH:D002613 NCI:C79545 SNOMEDCT_US_2023_03_01:155664000 UMLS_CUI:C0007971 disease_ontology DOID:1762 cheilitis MESH:D002613 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 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:2403 DOID:2869 DOID:324 DOID:325 DOID:45 ICD10CM:I72.9 ICD9CM:442.9 MESH:D000783 MESH:D014652 MESH:D020758 MESH:D020760 NCI:C26693 NCI:C35117 SNOMEDCT_US_2023_03_01:27550009 SNOMEDCT_US_2023_03_01:371029002 SNOMEDCT_US_2023_03_01:432119003 UMLS_CUI:C0002940 UMLS_CUI:C0042373 UMLS_CUI:C0752127 UMLS_CUI:C0752130 vascular tissue disease disease_ontology DOID:178 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. url:http://en.wikipedia.org/wiki/Vascular_disease An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage. DOID:10008 ICD10CM:C73 ICD9CM:193 KEGG:05216 MESH:D013964 NCI:C3414 NCI:C7510 SNOMEDCT_US_2023_03_01:127018007 SNOMEDCT_US_2023_03_01:94098005 UMLS_CUI:C0007115 UMLS_CUI:C0040136 Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm disease_ontology DOID:1781 thyroid cancer 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 An endocrine gland cancer located_in the pituitary gland located at the base of the brain. DOID:5671 GARD:9371 ICD10CM:C75.1 MESH:D010911 NCI:C3330 NCI:C4769 SNOMEDCT_US_2023_03_01:127024001 SNOMEDCT_US_2023_03_01:93964007 UMLS_CUI:C0032019 UMLS_CUI:C0496842 Pituitary gland neoplasm malignant Pituitary neoplasm malignant tumor of pituitary gland neoplasm of pituitary gland pituitary gland cancer pituitary neoplasm disease_ontology DOID:1785 pituitary cancer An endocrine gland cancer located_in the pituitary gland located at the base of the brain. url:http://en.wikipedia.org/wiki/Pituitary_gland ICDO:8671/0 MESH:D000314 NCI:C2860 SNOMEDCT_US_2023_03_01:54292009 UMLS_CUI:C0001630 Adrenal Rest neoplasm disease_ontology DOID:1786 adrenal rest tumor MESH:D000314 A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. MESH:D010493 NCI:C34915 SNOMEDCT_US_2023_03_01:3238004 UMLS_CUI:C0031046 disease_ontology DOID:1787 pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. url:http://en.wikipedia.org/wiki/Pericarditis A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. DOID:0050874 DOID:7954 ICD10CM:C45.1 NCI:C8704 NCI:C9350 SNOMEDCT_US_2023_03_01:187806007 UMLS_CUI:C0346109 UMLS_CUI:C0854886 Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum disease_ontology DOID:1788 peritoneal mesothelioma A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. url:http://en.wikipedia.org/wiki/Mesothelioma NCI:C7633 UMLS_CUI:C1377610 Mesothelioma of Peritoneum disease_ontology DOID:1789 benign peritoneal mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. DOID:4487 DOID:6965 DOID:7434 MESH:D000086002 NCI:C27926 NCI:C4456 NCI:C7865 NCI:C8420 OMIM:156240 SNOMEDCT_US_2023_03_01:109378008 UMLS_CUI:C0278752 UMLS_CUI:C0345967 UMLS_CUI:C0392400 UMLS_CUI:C1332338 Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium disease_ontology DOID:1790 OMIM mapping confirmed by DO. [SN]. malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. url:http://cancergenome.nih.gov/cancersselected/Mesothelioma url:http://www.cancer.gov/dictionary?CdrID=44323 url:http://www.merriam-webster.com/medlineplus/mesothelioma url:https://en.wikipedia.org/wiki/Mesothelioma A peritoneum cancer that is located_in the inside of the abdomen. NCI:C40022 UMLS_CUI:C1514428 primary peritoneal carcinoma disease_ontology DOID:1791 peritoneal carcinoma A peritoneum cancer that is located_in the inside of the abdomen. url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html NCI:C5714 UMLS_CUI:C1335307 Lymphoma of pancreas disease_ontology DOID:1792 pancreas lymphoma An endocrine gland cancer located_in the pancreas. DOID:14356 DOID:1797 DOID:3588 DOID:9859 GARD:9364 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MESH:D010190 NCI:C3305 ORDO:1333 ORDO:217074 SNOMEDCT_US_2023_03_01:126859007 SNOMEDCT_US_2023_03_01:187796007 SNOMEDCT_US_2023_03_01:93715005 SNOMEDCT_US_2023_03_01:93823001 SNOMEDCT_US_2023_03_01:94082003 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463 Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor disease_ontology DOID:1793 Xref MGI. pancreatic cancer An endocrine gland cancer located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. DOID:1794 NCI:C7430 SNOMEDCT_US_2023_03_01:255088001 UMLS_CUI:C0346648 malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas disease_ontology DOID:1795 malignant exocrine pancreas neoplasm A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430 A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. NCI:C5715 UMLS_CUI:C1096346 sarcoma of pancreas disease_ontology DOID:1796 pancreas sarcoma A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. url:https://brief.land/rro/articles/5126.html An islet cell tumor that has_material_basis_in epithelial cells. GARD:13034 ICD10CM:C25.4 ICD9CM:157.4 MESH:D018273 NCI:C3770 SNOMEDCT_US_2023_03_01:254612002 UMLS_CUI:C1328479 Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma disease_ontology DOID:1798 pancreatic endocrine carcinoma An islet cell tumor that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. DOID:579 NCI:C27599 UMLS_CUI:C1335051 Non-neoplastic urinary tract disease urinary tract disease disease_ontology DOID:18 urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. url:http://en.wikipedia.org/wiki/Urinary_system A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. ICDO:9262/0 MESH:D018214 NCI:C8422 SNOMEDCT_US_2023_03_01:189896007 UMLS_CUI:C0206640 Fibro-osteoma disease_ontology peripheral ossifying fibroma DOID:180 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. url:http://en.wikipedia.org/wiki/Ossifying_fibroma A carcinoma that derives_from neuroendocrine cells. ICDO:8246/3 MESH:D018278 NCI:C3773 SNOMEDCT_US_2023_03_01:55937004 UMLS_CUI:C0206695 disease_ontology DOID:1800 neuroendocrine carcinoma A carcinoma that derives_from neuroendocrine cells. url:https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132 MESH:D009443 NCI:C116381 SNOMEDCT_US_2023_03_01:247378004 UMLS_CUI:C0027813 peripheral neuritis disease_ontology DOID:1803 neuritis ICD10CM:G90.5 ICD9CM:337.2 MESH:D012019 NCI:C85042 OMIM:604335 SNOMEDCT_US_2023_03_01:203492008 UMLS_CUI:C0034931 disease_ontology DOID:1811 OMIM mapping confirmed by DO. [SN]. reflex sympathetic dystrophy A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. MESH:D002114 NCI:C3672 SNOMEDCT_US_2023_03_01:237881004 UMLS_CUI:C0006663 Pathologically calcified structure pathologic calcification disease_ontology DOID:182 calcinosis 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 GARD:10191 MESH:D013226 NCI:C85079 SNOMEDCT_US_2023_03_01:155039002 UMLS_CUI:C0038220 Grand mal status disease_ontology DOID:1824 status epilepticus A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. MESH:D004832 NCI:C3023 SNOMEDCT_US_2023_03_01:163596002 UMLS_CUI:C0014553 petit mal seizure pyknolepsy disease_ontology absence seizure DOID:1825 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. url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy 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. EFO:0000474 ICD10CM:G40 ICD9CM:345.9 MESH:D004827 NCI:C3020 SNOMEDCT_US_2023_03_01:267698007 UMLS_CUI:C0014544 epilepsy syndrome epileptic syndrome disease_ontology DOID:1826 epilepsy ICD10CM:G40 ICD10CM:G40.9 ICD10CM:G40.909 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 An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. MESH:D004829 NCI:C3021 OMIM:600669 SNOMEDCT_US_2023_03_01:155043003 UMLS_CUI:C0014548 Generalised epilepsy disease_ontology DOID:1827 Xref MGI. idiopathic generalized epilepsy An epilepsy syndrome that is characterized 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 GARD:7056 ICD10CM:G58.7 ICD9CM:354.5 MESH:D020422 NCI:C70938 SNOMEDCT_US_2023_03_01:30292005 UMLS_CUI:C0151295 disease_ontology DOID:1835 mononeuritis multiplex A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. ICD9CM:250.1 MESH:D016883 NCI:C50530 OMIM:612227 SNOMEDCT_US_2023_03_01:154671004 UMLS_CUI:C0011880 DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus disease_ontology DOID:1837 OMIM mapping confirmed by DO. [SN]. diabetic ketoacidosis A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. url:https://medlineplus.gov/ency/article/000320.htm url:https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551 GARD:1521 MESH:D007706 NCI:C75486 OMIM:309400 SNOMEDCT_US_2023_03_01:59178007 UMLS_CUI:C0022716 COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome disease_ontology DOID:1838 OMIM mapping confirmed by DO. [SN]. Menkes disease A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. DOID:3348 MESH:D001859 NCI:C9343 SNOMEDCT_US_2023_03_01:126537000 UMLS_CUI:C0005967 CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor disease_ontology DOID:184 bone cancer 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 A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. ICD10CM:F12.2 ICD9CM:304.3 MESH:D002189 NCI:C34445 SNOMEDCT_US_2023_03_01:268766005 UMLS_CUI:C0006870 disease_ontology DOID:1849 cannabis dependence 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 A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. GARD:10214 MESH:D002780 NCI:C84400 ORDO:284385 SNOMEDCT_US_2023_03_01:4637005 UMLS_CUI:C0008372 neonatal intrahepatic cholestasis disease_ontology DOID:1852 Xref MGI. intrahepatic cholestasis A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. url:https://medlineplus.gov/ency/article/000215.htm A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. GARD:6036 ICD10CM:M27.8 MESH:D002636 NCI:C84630 OMIM:118400 SNOMEDCT_US_2023_03_01:76098004 UMLS_CUI:C0008029 disease_ontology DOID:1856 OMIM mapping confirmed by DO. [SN]. cherubism A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10364528 url:https://www.ncbi.nlm.nih.gov/pubmed/11381256 A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. DOID:11345 GARD:6995 ICD10CM:Q78.1 ICD9CM:756.54 MESH:D005359 NCI:C34610 OMIM:174800 SNOMEDCT_US_2023_03_01:205508003 UMLS_CUI:C0016065 fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia disease_ontology DOID:1858 OMIM mapping confirmed by DO. [SN]. McCune Albright syndrome MESH:D005359 A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK537092/ MESH:D012888 NCI:C3375 SNOMEDCT_US_2023_03_01:126538005 UMLS_CUI:C0037305 disease_ontology DOID:1863 skull cancer ICD10CM:M27.1 ICD9CM:526.3 MESH:D006101 NCI:C173930 SNOMEDCT_US_2023_03_01:15350006 UMLS_CUI:C0162375 central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw disease_ontology DOID:1866 giant cell reparative granuloma A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. EFO:0004234 NCI:C3133 Sexual impotence erectile dysfunction disease_ontology DOID:1875 impotence A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. url:https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776 A male reproductive system disease that is characterized by disturbances in sexual desire or performance. ICD10CM:F52.9 NCI:C3347 SNOMEDCT_US_2023_03_01:39894007 UMLS_CUI:C0549622 disease_ontology DOID:1876 sexual dysfunction A male reproductive system disease that is characterized by disturbances in sexual desire or performance. url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction A heart septal defect located_in in the septum that separates the two atria of the heart. ICD10CM:Q21.1 MESH:D006344 NCI:C84473 OMIM:PS108800 ORDO:1478 SNOMEDCT_US_2023_03_01:156915002 UMLS_CUI:C0018817 atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect disease_ontology DOID:1882 Xref MGI. atrial heart septal defect A heart septal defect located_in in the septum that separates the two atria of the heart. url:https://en.wikipedia.org/wiki/Atrial_septal_defect A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, 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:2049 EFO:0003047 ICD10CM:B19.20 ICD9CM:070.7 MESH:D006526 NCI:C3098 SNOMEDCT_US_2023_03_01:154349000 UMLS_CUI:C0019196 NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB disease_ontology DOID:1883 hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, 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 A cranial nerve disease that is located_in the optic nerve. MESH:D009901 NCI:C79698 SNOMEDCT_US_2023_03_01:77157004 UMLS_CUI:C0029132 disorder of the second nerve optic nerve disorder optic neuropathy disease_ontology DOID:1891 optic nerve disease 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 A vaginal cancer that has_material_basis_in connective tissue. NCI:C7737 UMLS_CUI:C0238519 sarcoma of the vagina disease_ontology DOID:1901 vagina sarcoma A vaginal cancer that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/21816677 NCI:C5576 SNOMEDCT_US_2023_03_01:404014008 UMLS_CUI:C1275254 malignant fibrous histiocytoma of skin vaginal melanoma disease_ontology DOID:1906 malignant skin fibrous histiocytoma ICDO:8830/3 MESH:D051677 NCI:C4247 SNOMEDCT_US_2023_03_01:34360000 UMLS_CUI:C0334463 Fibroxanthosarcoma MFH disease_ontology DOID:1907 malignant fibrous histiocytoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. EFO:0000756 ICDO:8720/3 KEGG:05218 MESH:D008545 NCI:C3224 SNOMEDCT_US_2023_03_01:2092003 UMLS_CUI:C0025202 Naevocarcinoma malignant melanoma disease_ontology DOID:1909 melanoma MESH:D008545 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. url:http://en.wikipedia.org/wiki/Melanoma url:https://www.ncbi.nlm.nih.gov/pubmed/22123420 A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. NCI:C6379 UMLS_CUI:C1336945 vaginal Yolk Sac neoplasm vaginal endodermal sinus neoplasm disease_ontology DOID:1910 vaginal yolk sac tumor A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. url:https://www.ncbi.nlm.nih.gov/pubmed/30814243 A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. ICDO:9071/3 MESH:D018240 NCI:C3011 SNOMEDCT_US_2023_03_01:74409009 UMLS_CUI:C0014145 Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor disease_ontology DOID:1911 endodermal sinus tumor 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.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 url:https://www.cincinnatichildrens.org/health/y/yolk-sac/ A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. ICD10CM:E79.1 MESH:D007926 NCI:C61255 OMIM:300322 SNOMEDCT_US_2023_03_01:190918000 UMLS_CUI:C0023374 Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency disease_ontology DOID:1919 OMIM mapping confirmed by DO. [SN]. Lesch-Nyhan syndrome A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/31182398/ A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. DOID:12293 ICDO:8590/1 MESH:D018312 NCI:C3794 SNOMEDCT_US_2023_03_01:253028001 UMLS_CUI:C0206724 Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour disease_ontology DOID:192 sex cord-gonadal stromal tumor A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. MESH:D033461 NCI:C3961 SNOMEDCT_US_2023_03_01:271198001 UMLS_CUI:C0740394 Blood urate raized uricacidemia disease_ontology DOID:1920 hyperuricemia 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 A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. GARD:8705 ICD10CM:Q98.0 ICD9CM:758.7 MESH:D007713 NCI:C34752 SNOMEDCT_US_2023_03_01:405770005 UMLS_CUI:C0022735 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy disease_ontology DOID:1921 No OMIM mapping, confirmed by DO. [LS]. Klinefelter syndrome A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. url:https://ghr.nlm.nih.gov/condition/klinefelter-syndrome url:https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome A gonadal disease that is characterized by diminished functional activity of the gonads. MESH:D007006 NCI:C9227 OMIM:241100 OMIM:312300 SNOMEDCT_US_2023_03_01:48130008 UMLS_CUI:C0020619 disease_ontology DOID:1924 hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads. url:http://en.wikipedia.org/wiki/Hypogonadism An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. GARD:6124 MESH:C536436 NCI:C35321 OMIM:PS135900 ORDO:1465 SNOMEDCT_US_2023_03_01:10007009 UMLS_CUI:C0265338 Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia. disease_ontology DOID:1925 OMIM mapping confirmed by DO. [SN]. Coffin-Siris syndrome An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. 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 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. GARD:8233 ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2023_03_01:190794006 UMLS_CUI:C0017205 Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis disease_ontology DOID:1926 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Gaucher%27s_disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. GARD:7672 ICD10CM:E75.3 MESH:D013106 NCI:C117254 SNOMEDCT_US_2023_03_01:58459009 UMLS_CUI:C0037899 sphingolipidoses disease_ontology DOID:1927 sphingolipidosis A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. url:https://en.wikipedia.org/wiki/Sphingolipidoses url:https://www.ncbi.nlm.nih.gov/pubmed/28857617 A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. ICD10CM:Q93.82 MESH:D018980 NCI:C85232 OMIM:194050 SNOMEDCT_US_2023_03_01:63247009 UMLS_CUI:C0175702 Fanconi Schlesinger syndrome WBS disease_ontology DOID:1928 OMIM mapping confirmed by DO. [LS]. Williams-Beuren syndrome A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. url:https://ghr.nlm.nih.gov/condition/williams-syndrome url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1249/ An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. GARD:743 ICD10CM:Q25.3 MESH:D021921 NCI:C85176 OMIM:185500 SNOMEDCT_US_2023_03_01:204436002 UMLS_CUI:C0003499 Supra-valvular aortic stenosis disease_ontology DOID:1929 supravalvular aortic stenosis An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. url:https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis url:https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis An organ system cancer that is manifested in the reproductive organs. DOID:1900 NCI:C3674 UMLS_CUI:C0178830 Reproductive tumor malignant reproductive system neoplasm disease_ontology cancer of reproductive system DOID:193 reproductive organ cancer An organ system cancer that is manifested in the reproductive organs. url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. GARD:12635 MEDDRA:10056710 MESH:D007849 NCI:C34760 OMIM:245800 ORDO:2377 SNOMEDCT_US_2023_03_01:232059000 UMLS_CUI:C0023138 LNMS disease_ontology Laurence-Moon-Biedl syndrome DOID:1930 OMIM mapping confirmed by DO. [SN]. Laurence-Moon syndrome A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25480986 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. GARD:5810 ICD10CM:Q93.51 MESH:D017204 NCI:C75462 OMIM:105830 SNOMEDCT_US_2023_03_01:76880004 UMLS_CUI:C0162635 happy puppet syndrome puppetlike syndrome disease_ontology DOID:1932 OMIM mapping confirmed by DO. [SN]. Angelman syndrome MESH:D017204 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. url:https://en.wikipedia.org/wiki/Angelman_syndrome url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes url:https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. GARD:7593 ICD10CM:Q87.2 MESH:D012415 NCI:C75466 OMIM:180849 OMIM:610543 OMIM:613684 ORDO:783 SNOMEDCT_US_2023_03_01:157032007 UMLS_CUI:C0035934 Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome disease_ontology DOID:1933 Xref MGI. OMIM mapping confirmed by DO. [SN]. Rubinstein-Taybi syndrome A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome url:http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome url:https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome A bone development disease that results in defective ossification of bone. MESH:D004413 NCI:C34560 SNOMEDCT_US_2023_03_01:109420003 UMLS_CUI:C0013393 disease_ontology DOID:1934 dysostosis A bone development disease that results in defective ossification of bone. url:http://en.wikipedia.org/wiki/Dysostosis url:http://medical-dictionary.thefreedictionary.com/dysostosis A syndrome 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. GARD:6866 ICD10CM:Q87.89 MESH:D020788 NCI:C118632 OMIM:PS209900 ORDO:110 SNOMEDCT_US_2023_03_01:5619004 UMLS_CUI:C0752166 disease_ontology DOID:1935 OMIM mapping confirmed by DO. [SN]. Bardet-Biedl syndrome A syndrome 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 EFO:0003914 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C35768 SNOMEDCT_US_2023_03_01:155414001 UMLS_CUI:C0004153 disease_ontology DOID:1936 atherosclerosis MESH:D050197 ICD10CM:L65.0 ICD9CM:704.02 NCI:C112200 SNOMEDCT_US_2023_03_01:201147004 UMLS_CUI:C0263518 disease_ontology DOID:1943 telogen effluvium 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 ICD10CM:A59 ICD9CM:131 MEDDRA:10044620 MESH:D014245 NCI:C35720 SNOMEDCT_US_2023_03_01:56335008 UMLS_CUI:C0040921 disease_ontology trichomonas infection DOID:1947 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. url:http://en.wikipedia.org/wiki/Trichomoniasis A cholangitis that is characterized by an inflammation that is located in the gallbladder. DOID:1948 DOID:2829 DOID:9438 GARD:30 ICD10CM:K81 ICD9CM:575.10 MESH:D002764 NCI:C34465 OMIM:600803 SNOMEDCT_US_2023_03_01:76581006 UMLS_CUI:C0008325 acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis disease_ontology DOID:1949 OMIM mapping confirmed by DO. [SN]. cholecystitis A cholangitis that is characterized by an inflammation that is located in the gallbladder. url:http://en.wikipedia.org/wiki/Cholecystitis url:https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary A female reproductive system disease that is located_in the fallopian tube. MESH:D005184 NCI:C26771 SNOMEDCT_US_2023_03_01:128134005 UMLS_CUI:C0015556 disease_ontology DOID:1962 fallopian tube disease A female reproductive system disease that is located_in the fallopian tube. url:https://www.ncbi.nlm.nih.gov/pubmed/21415195 A fallopian tube cancer that is located_in the fallopian tube. MESH:D005185 NCI:C3867 SNOMEDCT_US_2023_03_01:276870001 UMLS_CUI:C0238122 cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca disease_ontology DOID:1963 fallopian tube carcinoma A fallopian tube cancer that is located_in the fallopian tube. url:http://www.cancer.gov/dictionary/?CdrID=45687 A female reproductive organ cancer that is located_in fallopian tube. DOID:1961 GARD:9162 ICD10CM:C57.0 ICD9CM:183.2 MESH:D005185 NCI:C3032 NCI:C7480 SNOMEDCT_US_2023_03_01:126916003 SNOMEDCT_US_2023_03_01:93794008 UMLS_CUI:C0015558 UMLS_CUI:C0153579 fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant disease_ontology DOID:1964 fallopian tube cancer A female reproductive organ cancer that is located_in fallopian tube. url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer A fallopian tube cancer that dervies_from smooth muscle cells. NCI:C40128 UMLS_CUI:C1517116 disease_ontology DOID:1965 fallopian tube leiomyosarcoma A fallopian tube cancer that dervies_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/20191300 A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. GARD:6880 ICDO:8890/3 MESH:D007890 NCI:C3158 SNOMEDCT_US_2023_03_01:443719001 UMLS_CUI:C0023269 Leiomyosarcomas disease_ontology DOID:1967 leiomyosarcoma A 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 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. DOID:1968 ICD10CM:G80 MESH:D002547 NCI:C34460 SNOMEDCT_US_2023_03_01:155024003 UMLS_CUI:C0007789 infantile cerebral palsy disease_ontology DOID:1969 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/ 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. NCI:C40124 UMLS_CUI:C1517117 fallopian tube malignant mixed Mullerian tumor fallopian tube malignant mixed mesodermal (mullerian) tumor disease_ontology DOID:1970 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. url:http://en.wikipedia.org/wiki/Carcinosarcoma A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. NCI:C40125 UMLS_CUI:C1517121 fallopian tube mullerian adenosarcoma disease_ontology DOID:1973 fallopian tube adenosarcoma A fallopian tube carcinoma 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:https://www.ncbi.nlm.nih.gov/pubmed/24557435 A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. ICDO:8933/3 MESH:D018195 NCI:C9474 SNOMEDCT_US_2023_03_01:189804002 UMLS_CUI:C0001442 mullerian Adenosarcoma disease_ontology DOID:1974 adenosarcoma MESH:D018195 A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:http://en.wikipedia.org/wiki/Adenosarcoma An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. NCI:C6452 SNOMEDCT_US_2023_03_01:447137005 UMLS_CUI:C1336744 Thymolipoma disease_ontology DOID:1975 thymus lipoma An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24736228 An intestinal benign neoplasm located_in the rectum. MESH:D012004 NCI:C3350 SNOMEDCT_US_2023_03_01:126847008 UMLS_CUI:C0034885 Rectal tumor neoplasm of rectum rectum neoplasm disease_ontology DOID:1984 rectal benign neoplasm An intestinal benign neoplasm located_in the rectum. url:https://www.ncbi.nlm.nih.gov/books/NBK6994/ NCI:C5553 UMLS_CUI:C1335685 Lymphoma of rectum disease_ontology DOID:1988 rectum lymphoma NCI:C4640 SNOMEDCT_US_2023_03_01:276822007 UMLS_CUI:C0349539 malignant melanoma of rectum melanoma of rectum disease_ontology DOID:1992 rectum malignant melanoma A colorectal cancer that is located_in the rectum. DOID:1989 ICD10CM:C20 ICD9CM:154.1 MESH:D012004 NCI:C7418 NCI:C9382 SNOMEDCT_US_2023_03_01:254582000 SNOMEDCT_US_2023_03_01:93984006 UMLS_CUI:C0007113 UMLS_CUI:C0949022 carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer disease_ontology cancer of rectum DOID:1993 rectum cancer A colorectal cancer that is located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=529764 A sarcoma and malignant tumor of rectum that is located_in the rectum. NCI:C5548 UMLS_CUI:C1335688 sarcoma of rectum disease_ontology DOID:1995 rectum sarcoma A sarcoma and malignant tumor of rectum that is located_in the rectum. url:https://www.ncbi.nlm.nih.gov/pubmed/23712252 A rectum cancer that derives_from epithelial cells of glandular origin. NCI:C9383 SNOMEDCT_US_2023_03_01:254582000 UMLS_CUI:C0149978 Rectal adenocarcinoma disease_ontology DOID:1996 rectum adenocarcinoma A rectum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma MESH:D005870 NCI:C3055 SNOMEDCT_US_2023_03_01:443790001 UMLS_CUI:C0017525 disease_ontology DOID:200 benign giant cell tumor A nervous system benign neoplasm that is characterized as a nerve tissue tumor. ICDO:9570/0 MESH:D009463 NCI:C3275 SNOMEDCT_US_2023_03_01:443892003 UMLS_CUI:C0027858 disease_ontology DOID:2001 neuroma A nervous system benign neoplasm that is characterized as a nerve tissue tumor. url:http://en.wikipedia.org/wiki/Neuroma ICD9CM:362.56 MESH:D019773 NCI:C175882 SNOMEDCT_US_2023_03_01:193391002 UMLS_CUI:C0339543 Macular puckering of retina Macular retinal puckering cellophane maculopathy disease_ontology DOID:2006 preretinal fibrosis A female reproductive organ cancer that is located_in the placenta. DOID:2023 ICD10CM:C58 ICD9CM:181 NCI:C3555 SNOMEDCT_US_2023_03_01:188187004 UMLS_CUI:C0153572 Placental tumors malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta placental cancer primary malignant neoplasm of placenta disease_ontology DOID:2021 placenta cancer A female reproductive organ cancer that is located_in the placenta. url:https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/ url:https://www.ncbi.nlm.nih.gov/pubmed/26156670, A gestational choriocarcinoma that is located_in the placenta. NCI:C8893 SNOMEDCT_US_2023_03_01:448401007 UMLS_CUI:C0855173 Choriocarcinoma of the Placenta disease_ontology DOID:2024 placental choriocarcinoma A gestational choriocarcinoma that is located_in the placenta. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/ A choriocarcinoma that develops in the presence of a preceding gestational event. NCI:C4646 SNOMEDCT_US_2023_03_01:1884006 UMLS_CUI:C0349557 Gestational chorionepithelioma Molar pregnancy with choriocarcinoma disease_ontology DOID:2025 gestational choriocarcinoma A choriocarcinoma that develops in the presence of a preceding gestational event. url:https://en.wikipedia.org/wiki/Gestational_choriocarcinoma A hyperostosis that involves formation of new bone on the surface of preexisting bone. ICD10CM:M27.8 ICD9CM:726.91 MESH:D005096 NCI:C3029 SNOMEDCT_US_2023_03_01:80400009 UMLS_CUI:C1442903 bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis disease_ontology DOID:203 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 A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:12884 ICD10CM:F41.9 MESH:D001008 NCI:C2878 OMIM:607834 SNOMEDCT_US_2023_03_01:65673007 UMLS_CUI:C0003469 anxiety anxiety state disease_ontology DOID:2030 anxiety 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 A specific developmental disorder that involves specific developmental disorders of speech and language. ICD10CM:F80.9 MESH:D003147 NCI:C2958 SNOMEDCT_US_2023_03_01:74825008 UMLS_CUI:C0009460 disease_ontology DOID:2033 communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language. url:http://en.wikipedia.org/wiki/Communication_disorder A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. MESH:D004678 NCI:C98920 SNOMEDCT_US_2023_03_01:58762006 UMLS_CUI:C0014068 disease_ontology DOID:2034 encephalomalacia A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. url:https://en.wikipedia.org/wiki/Cerebral_softening A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. DOID:12591 DOID:12592 DOID:2042 EFO:0004197 MESH:D006509 NCI:C3097 SNOMEDCT_US_2023_03_01:66071002 UMLS_CUI:C0019163 chronic hepatitis B hepatitis B infection disease_ontology Serum hepatitis DOID:2043 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, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and 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 An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. DOID:4745 GARD:5871 ICD9CM:571.42 MESH:D019693 NCI:C27778 SNOMEDCT_US_2023_03_01:16098491000119109 UMLS_CUI:C0241910 UMLS_CUI:C1332355 Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis disease_ontology DOID:2048 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. url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis sn:IEDB A bone remodeling disease that results in an abnormal growth of located in bone. ICD10CM:M89.3 MESH:D015576 NCI:C34712 SNOMEDCT_US_2023_03_01:13814009 UMLS_CUI:C0020492 bone hypertrophy hypertrophy of bone disease_ontology DOID:205 hyperostosis A bone remodeling disease that results in an abnormal growth of located in bone. url:http://en.wikipedia.org/wiki/Hyperostosis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. ICD10CM:J32.0 MESH:D015523 NCI:C34809 SNOMEDCT_US_2023_03_01:275484005 UMLS_CUI:C0024959 disease_ontology DOID:2051 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. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html NCI:C27549 UMLS_CUI:C1335666 disease_ontology DOID:2053 reactive cutaneous fibrous lesion An anxiety disorder which results from a traumatic experience that results in psychological trauma. ICD10CM:F43.1 ICD9CM:309.81 MESH:D013313 NCI:C3389 SNOMEDCT_US_2023_03_01:192415000 UMLS_CUI:C0038436 PTSD traumatic neurosis disease_ontology DOID:2055 post-traumatic stress disorder An anxiety disorder which results from a traumatic experience that results in psychological trauma. url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder 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 GARD:12313 MESH:D002178 NCI:C34444 OMIM:114580 OMIM:212050 OMIM:607644 OMIM:613108 OMIM:613956 OMIM:614162 OMIM:615527 OMIM:616445 ORDO:1334 SNOMEDCT_US_2023_03_01:234568006 UMLS_CUI:C0006845 disease_ontology DOID:2058 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://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh A female reproductive system disease that is located_in the vulva. MESH:D014845 NCI:C27631 SNOMEDCT_US_2023_03_01:5089007 UMLS_CUI:C0042994 disease_ontology DOID:2059 vulvar disease A female reproductive system disease that is located_in the vulva. url:https://en.wikipedia.org/wiki/Vulvar_disease 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. ICD10CM:Q78.6 MESH:D005097 NCI:C5183 OMIM:133700 OMIM:133701 OMIM:600209 ORDO:321 SNOMEDCT_US_2023_03_01:254044004 UMLS_CUI:C0015306 Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas disease_ontology DOID:206 OMIM mapping confirmed by DO. [SN]. 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. 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 A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. NCI:C40312 UMLS_CUI:C1520091 disease_ontology DOID:2060 vulvar nodular hidradenoma A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. url:http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. NCI:C40311 UMLS_CUI:C1520099 disease_ontology DOID:2064 vulvar syringoma A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. url:https://en.wikipedia.org/wiki/Syringoma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/ GARD:10547 ICDO:8407/0 MESH:D018252 NCI:C3761 OMIM:186600 SNOMEDCT_US_2023_03_01:189051001 UMLS_CUI:C0206673 disease_ontology DOID:2065 syringoma A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. NCI:C8596 SNOMEDCT_US_2023_03_01:402841001 UMLS_CUI:C1274281 Fordyce angiokeratoma of vulva disease_ontology DOID:2066 vulvar angiokeratoma A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/ NCI:C6434 UMLS_CUI:C0220616 Bartholin gland neoplasm tumor of Bartholin's gland disease_ontology DOID:2068 Bartholin's gland benign neoplasm NCI:C6376 UMLS_CUI:C1336982 disease_ontology DOID:2071 vulvar squamous papilloma A vulva cancer that has_material_basis_in squamous tissue. NCI:C40283 UMLS_CUI:C1520097 disease_ontology DOID:2072 vulvar squamous tumor A vulva cancer that has_material_basis_in squamous tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/24342664 ICD9CM:569.83 MESH:D007416 NCI:C39611 SNOMEDCT_US_2023_03_01:56905009 UMLS_CUI:C0021845 Perforation of intestine disease_ontology DOID:2074 intestinal perforation A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. NCI:C40301 UMLS_CUI:C1510791 disease_ontology adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html url:https://www.ncbi.nlm.nih.gov/pubmed/14714720 A vulva cancer that has_material_basis_in glandular tissue. NCI:C40292 UMLS_CUI:C1520082 disease_ontology DOID:2076 vulvar glandular tumor A vulva cancer that has_material_basis_in glandular tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/24342664 NCI:C40302 UMLS_CUI:C1511091 disease_ontology DOID:2078 chondroid syringoma of the vulva NCI:C4474 SNOMEDCT_US_2023_03_01:254720009 UMLS_CUI:C0346026 Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin disease_ontology DOID:2079 eccrine mixed tumor of skin A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. NCI:C40314 UMLS_CUI:C1520100 disease_ontology DOID:2080 vulvar trichoepithelioma A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/ A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. ICD10CM:K59.0 ICD9CM:564.0 MESH:D003248 NCI:C37930 SNOMEDCT_US_2022_03_01:363693003 UMLS_CUI:C0009806 disease_ontology DOID:2089 reviewed 10/2022 & determined to be a symptom obsolete constipation true A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. url:https://en.wikipedia.org/wiki/Constipation url:https://www.ncbi.nlm.nih.gov/pubmed/19647687 ICD10CM:M12.8 ICD9CM:716.4 NCI:C35761 SNOMEDCT_US_2023_03_01:66191007 UMLS_CUI:C0152083 disease_ontology DOID:2092 transient arthritis A vulva cancer that has_material_basis_in melanocytes. NCI:C40329 SNOMEDCT_US_2023_03_01:254896002 UMLS_CUI:C0241989 malignant melanoma of vulva disease_ontology DOID:2093 vulvar melanoma A vulva cancer that has_material_basis_in melanocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/ ICD10CM:C44 NCI:C4810 SNOMEDCT_US_2023_03_01:255095005 UMLS_CUI:C1321904 malignant neoplasm of sweat gland malignant tumor of the Sweat gland disease_ontology DOID:2095 sweat gland cancer A vulva cancer that has_material_basis_in connective tissue. NCI:C40317 SNOMEDCT_US_2023_03_01:254897006 UMLS_CUI:C0238525 sarcoma of vulva disease_ontology DOID:2096 vulvar sarcoma A vulva cancer that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25816393 A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. NCI:C4027 SNOMEDCT_US_2023_03_01:254898001 UMLS_CUI:C1275217 Paget's disease of vulva Vulvar Paget's disease vulval Paget disease disease_ontology DOID:2097 vulval Paget's disease A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. url:https://www.ncbi.nlm.nih.gov/pubmed/26971063 A vulva carcinoma that derives_from epithelial cells of glandular origin. NCI:C6380 UMLS_CUI:C1336975 adenocarcinoma of Vulva disease_ontology adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma A vulva carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. NCI:C4052 SNOMEDCT_US_2023_03_01:254895003 UMLS_CUI:C0280856 Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma disease_ontology squamous cell carcinoma of vulva DOID:2101 vulva squamous cell 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 A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. DOID:0080100 GARD:12301 ICD9CM:359.22 MESH:D009224 NCI:C84912 ORDO:614 UMLS_CUI:C0027127 Batten Turner congenital myopathy Thomsen and Becker disease disease_ontology DOID:2106 OMIM mapping confirmed by DO. [SN]. myotonia congenita A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. url:http://rarediseases.org/rare-diseases/myotonia-congenita/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 url:https://medlineplus.gov/genetics/condition/myotonia-congenita/ 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:4891 ICD10CM:A07.3 MESH:D021865 NCI:C4076 SNOMEDCT_US_2023_03_01:73034009 UMLS_CUI:C0311386 Infection by Isospora belli and Isospora hominis Isosporosis isosporiasis disease_ontology DOID:2112 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. url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm 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. MESH:D003048 NCI:C34493 SNOMEDCT_US_2023_03_01:186125004 UMLS_CUI:C0009187 disease_ontology intestinal coccidiosis DOID:2113 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. url:http://en.wikipedia.org/wiki/Coccidiosis A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. GARD:6457 MESH:D005489 NCI:C84715 OMIM:305600 ORDO:2092 SNOMEDCT_US_2023_03_01:205573006 UMLS_CUI:C0016395 FDH FODH Goltz syndrome Goltz-Gorlin syndrome disease_ontology DOID:2120 OMIM mapping confirmed by DO. [SN]. focal dermal hypoplasia A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. url:https://rarediseases.info.nih.gov/diseases/6457/disease A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. GARD:6317 ICD9CM:757.31 MESH:D004476 NCI:C84683 OMIM:PS305100 ORDO:79373 SNOMEDCT_US_2023_03_01:8654005 UMLS_CUI:C0013575 Congenital ectodermal defect Congenital ectodermal dysplasia disease_ontology DOID:2121 ectodermal dysplasia A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. url:https://en.wikipedia.org/wiki/Ectodermal_dysplasia url:https://medlineplus.gov/ency/article/001469.htm url:https://www.omim.org/entry/305100 A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. NCI:C6284 UMLS_CUI:C1332606 germinoma of the brain intracranial germinoma disease_ontology DOID:2127 brain germinoma A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. url:https://en.wikipedia.org/wiki/Germinoma A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. ICDO:9508/3 NCI:C6906 OMIM:609322 ORDO:99966 SNOMEDCT_US_2023_03_01:128792003 UMLS_CUI:C1266184 Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour disease_ontology AT/RT rhabdoid tumor predisposition syndrome DOID:2129 OMIM mapping confirmed by DO. [SN]. atypical teratoid rhabdoid tumor 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 A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. NCI:C5154 UMLS_CUI:C1332607 sarcoma of the brain disease_ontology DOID:2132 brain sarcoma A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/12170093 A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. NCI:C5153 UMLS_CUI:C1332892 sarcoma of the CNS disease_ontology DOID:2133 central nervous system sarcoma A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. url:https://en.wikipedia.org/wiki/Sarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/12170093 DOID:2134 ICD10CM:C71.2 ICD9CM:191.2 NCI:C5567 SNOMEDCT_US_2023_03_01:126955002 SNOMEDCT_US_2023_03_01:94086000 UMLS_CUI:C0153636 UMLS_CUI:C1263887 malignant neoplasm of temporal lobe neoplasm of temporal lobe tumor of Temporal Lobe disease_ontology DOID:2135 temporal lobe neoplasm NCI:C5061 UMLS_CUI:C1519826 disease_ontology DOID:2140 urethral urothelial papilloma An urethral benign neoplasm that derives_from smooth muscle cells. NCI:C6171 UMLS_CUI:C1336888 leiomyoma of the urethra disease_ontology DOID:2142 urethra leiomyoma An urethral benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/ An ovarian cancer that derives_from mesothelial tissue. NCI:C40444 UMLS_CUI:C1518721 disease_ontology DOID:2143 ovarian malignant mesothelioma An ovarian cancer that derives_from mesothelial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/8764743 An ovarian cancer that is characterized by cystic structure. NCI:C3843 UMLS_CUI:C0235770 disease_ontology DOID:2145 malignant ovarian cyst An ovarian cancer that is characterized by cystic structure. url:https://www.ncbi.nlm.nih.gov/pubmed/23627408 An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C8267 SNOMEDCT_US_2023_03_01:423627007 UMLS_CUI:C0280746 sarcoma of Ovary disease_ontology DOID:2146 ovary sarcoma An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/21740740 An ovarian cancer that arises_from lymphocytes. NCI:C40021 UMLS_CUI:C1518720 disease_ontology DOID:2150 ovarian lymphoma An ovarian cancer that arises_from lymphocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/23905454 An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. NCI:C40026 UMLS_CUI:C1518236 disease_ontology DOID:2151 malignant ovarian surface epithelial-stromal neoplasm An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. url:https://www.sciencedirect.com/science/article/pii/0046817791902054 An ovarian cancer that is derives_from ovarian surface epithelium. NCI:C4381 SNOMEDCT_US_2023_03_01:237057005 UMLS_CUI:C0341823 Ovarian Surface epithelial-Stromal tumor disease_ontology DOID:2152 ovary epithelial cancer An ovarian cancer that is derives_from ovarian surface epithelium. url:http://en.wikipedia.org/wiki/Ovarian_cancer url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. NCI:C40443 UMLS_CUI:C1518746 disease_ontology ovarian Wilms' tumor DOID:2153 ovarian Wilms' cancer A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. url:https://www.ncbi.nlm.nih.gov/pubmed/18260155 A kidney cancer that affects the kidneys and typically located_in children. DOID:5177 DOID:5180 ICDO:8960/3 MESH:D009396 NCI:C27730 NCI:C3267 NCI:C6180 OMIM:194070 SNOMEDCT_US_2023_03_01:25081006 UMLS_CUI:C0027708 UMLS_CUI:C1332219 UMLS_CUI:C1333015 adult nephroblastoma disease_ontology Wilms' tumor DOID:2154 OMIM mapping confirmed by DO. [SN]. nephroblastoma A kidney cancer that affects the kidneys and typically located_in children. url:http://en.wikipedia.org/wiki/Wilms%27_tumor MESH:C562841 NCI:C4514 SNOMEDCT_US_2023_03_01:254869000 UMLS_CUI:C0346180 malignant Ovarian germ cell tumor malignant germ cell tumor of ovary disease_ontology DOID:2155 malignant ovarian germ cell neoplasm An ovarian cancer that originates in the germ (egg) cells of the ovary. GARD:9330 NCI:C3873 OMIM:603737 SNOMEDCT_US_2023_03_01:237059008 UMLS_CUI:C0238324 germ cell neoplasm of Ovary germ cell tumor of ovary disease_ontology ovarian germ cell tumor DOID:2156 OMIM mapping confirmed by DO. [SN]. ovarian germ cell cancer 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 A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. DOID:10785 DOID:10870 DOID:11913 EFO:0003819 ICD10CM:K02 ICD10CM:K02.6 ICD9CM:521.0 ICD9CM:521.07 MESH:D003731 NCI:C52593 SNOMEDCT_US_2023_03_01:155632007 UMLS_CUI:C0011334 UMLS_CUI:C1456145 Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure disease_ontology DOID:216 dental caries A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. url:https://www.nidcr.nih.gov/health-info/tooth-decay DOID:4728 NCI:C27102 SNOMEDCT_US_2023_03_01:232340005 UMLS_CUI:C0339820 disease_ontology DOID:2163 nasal cavity disease A vaginal disease that is characterized by inflammation of the vagina. DOID:10769 ICD9CM:616.1 MESH:D014627 NCI:C26911 SNOMEDCT_US_2023_03_01:198212006 SNOMEDCT_US_2023_03_01:393596009 UMLS_CUI:C0042267 UMLS_CUI:C0042268 disease_ontology DOID:2170 vaginitis A vaginal disease that is characterized by inflammation of the vagina. url:https://www.ncbi.nlm.nih.gov/pubmed/21524046 MESH:D005142 NCI:C3031 SNOMEDCT_US_2023_03_01:278697001 UMLS_CUI:C0015424 tumor of the eyelid disease_ontology DOID:2173 eyelid benign neoplasm A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. DOID:9985 ICD9CM:190.8 MESH:D005134 NCI:C3030 SNOMEDCT_US_2023_03_01:126995000 SNOMEDCT_US_2023_03_01:188277006 UMLS_CUI:C0015414 UMLS_CUI:C0153632 Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper disease_ontology DOID:2174 ocular cancer 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 A colorectal cancer that is located_in the colon. ICD10CM:C18 ICD9CM:153 MESH:D003110 NCI:C9242 SNOMEDCT_US_2023_03_01:363406005 UMLS_CUI:C0007102 disease_ontology DOID:219 colon cancer A colorectal cancer that is located_in the colon. url:http://www.cancer.gov/dictionary?CdrID=44237 url:https://www.genome.gov/Genetic-Disorders/Colon-Cancer A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. GARD:10766 MESH:D005177 NCI:C98941 OMIM:613225 OMIM:613235 SNOMEDCT_US_2023_03_01:50189006 UMLS_CUI:C0015530 Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor disease_ontology DOID:2211 OMIM mapping confirmed by DO. [SN]. factor XIII deficiency A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. url:http://omim.org/entry/613225 url:http://omim.org/entry/613235 url:https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. GARD:2238 ICD10CM:D68.2 MESH:D005168 NCI:C131631 OMIM:227500 ORDO:327 SNOMEDCT_US_2023_03_01:154820003 UMLS_CUI:C0015503 deficiency, stable disease_ontology DOID:2215 factor VII deficiency OMIM:227500 ORDO:327 A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. url:http://omim.org/entry/227500 url:https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes GARD:2237 ICD10CM:D68.2 MESH:D005166 NCI:C98938 OMIM:227400 SNOMEDCT_US_2023_03_01:191284007 UMLS_CUI:C0015499 Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile disease_ontology DOID:2216 OMIM mapping confirmed by DO. [SN]. factor V deficiency A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. MESH:D001606 NCI:C84595 OMIM:231200 ORDO:274 SNOMEDCT_US_2023_03_01:54569005 UMLS_CUI:C0005129 Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier disease_ontology DOID:2217 OMIM mapping confirmed by DO. [SN]. Bernard-Soulier syndrome A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. url:https://www.ncbi.nlm.nih.gov/pubmed/10706630 url:https://www.ncbi.nlm.nih.gov/pubmed/8481514 url:https://www.ncbi.nlm.nih.gov/pubmed/8703016 url:https://www.ncbi.nlm.nih.gov/pubmed/9616133 A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. MESH:D001791 NCI:C131634 SNOMEDCT_US_2023_03_01:22716005 UMLS_CUI:C0005818 Thrombocytopathy platelet disorder disease_ontology DOID:2218 blood platelet disease A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. url:https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. GARD:2478 ICD10CM:D69.1 MESH:D013915 NCI:C61249 OMIM:273800 ORDO:849 SNOMEDCT_US_2023_03_01:32942005 UMLS_CUI:C0040015 BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli disease_ontology DOID:2219 OMIM mapping confirmed by DO. [LS]. Glanzmann's thrombasthenia A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/16463284 url:https://www.ncbi.nlm.nih.gov/pubmed/2014236 url:https://www.ncbi.nlm.nih.gov/pubmed/9160670 A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. GARD:6404 MESH:D005171 NCI:C131632 OMIM:227600 ORDO:328 SNOMEDCT_US_2023_03_01:76642003 UMLS_CUI:C0015519 disease, Stuart-Prower disease_ontology DOID:2222 factor X deficiency OMIM:227600 ORDO:328 A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. url:https://rarediseases.org/rare-diseases/factor-x-deficiency/ A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. GARD:6594 ICD10CM:D47.3 ICD9CM:238.71 ICDO:9962/3 MESH:D013920 NCI:C3407 OMIM:187950 OMIM:601977 OMIM:614521 ORDO:3318 ORDO:71493 SNOMEDCT_US_2023_03_01:234499005 UMLS_CUI:C0040028 Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis disease_ontology DOID:2224 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential thrombocythemia A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential A myeloid neoplasm 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. DOID:6002 ICD10CM:D47.1 ICDO:9960/3 NCI:C4345 SNOMEDCT_US_2023_03_01:115248004 UMLS_CUI:C1292778 CMPD CMPD, U chronic myeloproliferative disease disease_ontology DOID:2226 myeloproliferative neoplasm A myeloid neoplasm 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.bloodjournal.org/content/114/5/937.long url:http://www.cancer.gov/cancertopics/types/myeloproliferative A blood platelet disease that is characterized by the presence of high platelet counts in the blood. ICD10CM:D75.83 MESH:D013922 NCI:C35530 SNOMEDCT_US_2023_03_01:165557006 UMLS_CUI:C0836924 Thrombocythaemia disease_ontology DOID:2228 thrombocytosis A 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 A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. GARD:9670 ICD10CM:D68.1 ICD9CM:286.2 MESH:D005173 NCI:C84705 OMIM:612416 SNOMEDCT_US_2023_03_01:49762007 UMLS_CUI:C0015523 Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency disease_ontology DOID:2229 OMIM mapping confirmed by DO. [SN]. factor XI deficiency A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency url:https://www.omim.org/entry/612416 ICD9CM:435.0 MESH:D014715 NCI:C34413 SNOMEDCT_US_2023_03_01:195197005 UMLS_CUI:C0004812 Basilar artery syndrome disease_ontology DOID:223 basilar artery insufficiency A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. GARD:6558 MESH:D005175 NCI:C131740 OMIM:234000 ORDO:330 SNOMEDCT_US_2023_03_01:46981006 UMLS_CUI:C0015526 Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman disease_ontology DOID:2231 OMIM mapping confirmed by DO. [SN]. factor XII deficiency A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. url:http://omim.org/entry/234000 url:https://rarediseases.org/rare-diseases/factor-xii-deficiency/ An epilepsy syndrome that is characterized 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. MESH:D004828 NCI:C122812 SNOMEDCT_US_2023_03_01:230381009 UMLS_CUI:C0014547 localisation-related epilepsy partial epilepsy disease_ontology DOID:2234 focal epilepsy An epilepsy syndrome that is characterized 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 A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. MESH:C562724 NCI:C26799 OMIM:613679 ORDO:325 SNOMEDCT_US_2023_03_01:33297000 UMLS_CUI:C0272317 Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia disease_ontology Factor II deficiency DOID:2235 OMIM mapping confirmed by DO. [SN]. prothrombin deficiency A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. url:https://ghr.nlm.nih.gov/condition/prothrombin-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/30306070 url:https://www.omim.org/entry/613679 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325 A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). GARD:5761 MESH:D000347 NCI:C98130 OMIM:202400 SNOMEDCT_US_2023_03_01:278504009 UMLS_CUI:C0001733 Factor I deficiency Fibrinogen deficiency disease_ontology DOID:2236 OMIM mapping confirmed by DO. [SN]. congenital afibrinogenemia A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). url:https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms DOID:12352 DOID:14551 DOID:1706 DOID:1707 DOID:2238 ICD10CM:K73.9 ICD9CM:570 ICD9CM:571.4 ICD9CM:571.41 MESH:D006521 NCI:C82978 SNOMEDCT_US_2023_03_01:155813004 SNOMEDCT_US_2023_03_01:197268000 SNOMEDCT_US_2023_03_01:266539002 UMLS_CUI:C0001308 UMLS_CUI:C0019189 UMLS_CUI:C0149519 acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis disease_ontology DOID:2237 hepatitis NCI:C27015 SNOMEDCT_US_2023_03_01:86514004 UMLS_CUI:C0235369 disease_ontology DOID:2239 granulomatous hepatitis A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. DOID:2315 ICD10CM:G45.9 MESH:D002546 NCI:C50781 SNOMEDCT_US_2023_03_01:195196001 UMLS_CUI:C0007787 TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack disease_ontology DOID:224 transient cerebral ischemia A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. url:https://en.wikipedia.org/wiki/Transient_ischemic_attack A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. MESH:D013577 NCI:C28193 SNOMEDCT_US_2023_03_01:64572001 UMLS_CUI:C0039082 disease_ontology DOID:225 syndrome A disease characterized by 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 An uterine disease that is located_in the cervix. MESH:D002577 NCI:C40241 SNOMEDCT_US_2023_03_01:63339007 UMLS_CUI:C0007867 disease_ontology DOID:2253 cervix disease An uterine disease that is located_in the cervix. url:https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease A bone development disease that results_in defective development of cartilage or bone. DOID:1764 ICD10CM:Q78.9 ICD9CM:756.4 MESH:D010009 NCI:C34466 NCI:C84978 SNOMEDCT_US_2023_03_01:205510001 SNOMEDCT_US_2023_03_01:67988000 UMLS_CUI:C0008449 UMLS_CUI:C0029422 Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia disease_ontology DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone. url:http://en.wikipedia.org/wiki/Osteochondrodysplasia An 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. ICD10CM:M24.6 ICD9CM:718.5 MESH:D000844 NCI:C171941 SNOMEDCT_US_2023_03_01:36504009 UMLS_CUI:C0003090 disease_ontology DOID:227 ankylosis MESH:D000844 An 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 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. ICD10CM:B37.3 ICD9CM:112.1 MESH:D002181 NCI:C2914 SNOMEDCT_US_2023_03_01:154404004 UMLS_CUI:C0700345 Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis disease_ontology DOID:2272 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. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ A female reproductive system disease that is characterized by inflammation of the vagina and vulva. ICD10CM:N76.0 MESH:D014848 NCI:C35131 SNOMEDCT_US_2023_03_01:155981006 UMLS_CUI:C0042998 Vulvo-vaginitis disease_ontology DOID:2273 vulvovaginitis A female reproductive system disease that is characterized by inflammation of the vagina and vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/26001874 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:938 DOID:939 ICD10CM:J02 ICD9CM:462 ICD9CM:472 ICD9CM:478.20 MESH:D010608 MESH:D010612 NCI:C26850 NCI:C26851 NCI:C34355 SNOMEDCT_US_2023_03_01:195654001 SNOMEDCT_US_2023_03_01:195763009 SNOMEDCT_US_2023_03_01:37616004 SNOMEDCT_US_2023_03_01:75860007 UMLS_CUI:C0001344 UMLS_CUI:C0031345 UMLS_CUI:C0031350 UMLS_CUI:C0155824 Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat disease_ontology pharyngeal disease DOID:2275 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. url:http://en.wikipedia.org/wiki/Pharyngitis url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 An endocrine system disease that is located_in the gonads. MESH:D006058 NCI:C26786 UMLS_CUI:C0018050 disease_ontology DOID:2277 gonadal disease An endocrine system disease that is located_in the gonads. url:https://www.nature.com/subjects/gonadal-disorders A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. GARD:6658 ICD10CM:L73.2 MESH:D017497 NCI:C128429 OMIM:142690 OMIM:613736 OMIM:613737 SNOMEDCT_US_2023_03_01:201204008 UMLS_CUI:C0162836 Acne inversa, familial disease_ontology DOID:2280 OMIM mapping confirmed by DO. [SN]. hidradenitis suppurativa A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/ A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. ICD9CM:705.83 MESH:D016575 NCI:C112190 SNOMEDCT_US_2023_03_01:267866004 UMLS_CUI:C0085160 Hydradenitis disease_ontology DOID:2282 hidradenitis A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.09d&code=C112190&ns=ncit&type=properties&key=null&b=1&n=0&vse=null NCI:C27012 UMLS_CUI:C0235270 disease_ontology DOID:2283 keratopathy ICDO:9171/0 NCI:C27509 SNOMEDCT_US_2023_03_01:445492005 UMLS_CUI:C1333176 disease_ontology cutaneous lymphangioma DOID:2286 capillary lymphangioma 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 GARD:7881 ICD10CM:A27 ICD10CM:A27.0 ICD9CM:100 ICD9CM:100.0 MESH:D007922 MESH:D014895 NCI:C84825 SNOMEDCT_US_2023_03_01:154391003 SNOMEDCT_US_2023_03_01:398067003 UMLS_CUI:C0023364 UMLS_CUI:C0043102 Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice disease_ontology DOID:2297 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. url:http://en.wikipedia.org/wiki/Leptospirosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. ICD10CM:G12.23 ICD9CM:335.24 MESH:D016472 NCI:C129933 OMIM:611637 ORDO:35689 SNOMEDCT_US_2023_03_01:81211007 UMLS_CUI:C0154682 adult-onset primary lateral sclerosis primary lateral sclerosis disease_ontology DOID:230 Xref MGI. 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 A bone structure disease that involves a defect located_in lumbar vertebral column. ICD10CM:M43.0 MESH:D013169 NCI:C35034 SNOMEDCT_US_2023_03_01:203688008 UMLS_CUI:C0038018 disease_ontology DOID:2300 spondylolysis A bone structure disease that involves a defect located_in lumbar vertebral column. 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 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. GARD:7210 ICD10CM:A43 MESH:D009617 NCI:C171147 SNOMEDCT_US_2023_03_01:29227009 UMLS_CUI:C0028242 Nocardia infectious disease disease_ontology DOID:2312 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. url:http://en.wikipedia.org/wiki/Nocardiosis 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:4094 DOID:5269 ICD10CM:K52.9 MESH:D005759 NCI:C34632 SNOMEDCT_US_2023_03_01:154278002 UMLS_CUI:C0017160 cholera morbus infectious colitis, enteritis and gastroenteritis disease_ontology DOID:2326 gastroenteritis MESH:D005759 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 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. NCI:C27184 SNOMEDCT_US_2023_03_01:285344007 UMLS_CUI:C0563238 disease_ontology DOID:2327 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. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html A jaw cancer and mandibular disease that affects your lower jawbone. DOID:12408 ICD10CM:C41.1 ICD9CM:170.1 MESH:D008339 NCI:C35178 SNOMEDCT_US_2023_03_01:126551000 SNOMEDCT_US_2023_03_01:448668007 UMLS_CUI:C0024694 UMLS_CUI:C0153511 malignant neoplasm of inferior maxilla malignant neoplasm of lower Jaw bone mandible cancer neoplasm of mandible disease_ontology malignant neoplasm of mandible mandibular neoplasm DOID:2338 mandibular cancer A jaw cancer and mandibular disease that affects your lower jawbone. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178 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. GARD:6206 ICD10CM:Q75.1 MESH:D003394 NCI:C84653 OMIM:123500 SNOMEDCT_US_2023_03_01:28861008 UMLS_CUI:C0010273 Craniofacial Dysostosis disease_ontology Crouzon's disease DOID:2339 OMIM mapping confirmed by DO. [SN]. 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. 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:https://www.faces-cranio.org/crouzon A colon carcinoma that derives_from epithelial cells of glandular origin. MESH:D003110 NCI:C4349 SNOMEDCT_US_2023_03_01:255082000 UMLS_CUI:C0338106 Colonic adenocarcinoma adenocarcinoma of colon disease_ontology adenocarcinoma of the colon DOID:234 colon adenocarcinoma A colon carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A synostosis that results_in premature fusion located_in skull. GARD:6209 ICD10CM:Q75.0 MESH:D003398 NCI:C84655 OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314 ORDO:1531 SNOMEDCT_US_2023_03_01:205414007 UMLS_CUI:C0010278 Premature closure of cranial sutures disease_ontology DOID:2340 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. craniosynostosis A synostosis that results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Craniosynostosis 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 ICD10CM:D89.0 ICD9CM:273.0 NCI:C35885 SNOMEDCT_US_2023_03_01:190808009 UMLS_CUI:C0154254 disease_ontology DOID:2344 polyclonal hypergammaglobulinemia ICD10CM:I70.91 ICD9CM:440.9 NCI:C35767 SNOMEDCT_US_2023_03_01:367108003 UMLS_CUI:C0017327 Generalised atherosclerosis disease_ontology DOID:2347 generalized atherosclerosis ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C34403 NCI:C35768 SNOMEDCT_US_2023_03_01:155414001 SNOMEDCT_US_2023_03_01:39468009 UMLS_CUI:C0004153 UMLS_CUI:C3665365 Cardiovascular arteriosclerosis disease_ontology DOID:2348 arteriosclerotic cardiovascular disease An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. ICD10CM:I70 MESH:D001161 NCI:C34398 SNOMEDCT_US_2023_03_01:195251000 UMLS_CUI:C0003850 Arteriosclerotic vascular disease disease_ontology DOID:2349 arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. url:http://en.wikipedia.org/wiki/Arteriosclerosis An intestinal benign neoplasm that is located_in the colon. MESH:D003110 NCI:C2953 SNOMEDCT_US_2023_03_01:126838000 UMLS_CUI:C0009375 Colonic Mass Colonic tumor colon neoplasm neoplasm of colon disease_ontology DOID:235 colonic benign neoplasm An intestinal benign neoplasm that is located_in the colon. url:http://en.wikipedia.org/wiki/Benign_tumor A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. ICD10CM:E83.11 MESH:D006432 NCI:C82892 OMIM:231100 OMIM:PS235200 ORDO:139498 SNOMEDCT_US_2023_03_01:86781004 UMLS_CUI:C0018995 Haemochromatosis diabetes bronze iron storage disorder disease_ontology DOID:2352 Xref MGI. hemochromatosis 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 A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MESH:D000740 NCI:C2869 SNOMEDCT_US_2023_03_01:64593003 UMLS_CUI:C0002871 anaemia disease_ontology DOID:2355 PRISM. anemia MESH:D000740 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/ MESH:D000748 NCI:C34381 SNOMEDCT_US_2023_03_01:83414005 UMLS_CUI:C0002886 ANEMIA MACROCYTIC Macrocytic anaemia disease_ontology DOID:2361 macrocytic anemia MESH:D019150 NCI:C161542 SNOMEDCT_US_2023_03_01:230365004 UMLS_CUI:C0338473 disease_ontology DOID:2367 neuroaxonal dystrophy 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. GARD:6621 ICD10CM:D58.1 ICD9CM:282.1 MESH:D004612 NCI:C35882 OMIM:130600 OMIM:611804 ORDO:288 SNOMEDCT_US_2023_03_01:154801000 UMLS_CUI:C0013902 Congenital elliptocytosis ovalocytosis disease_ontology DOID:2373 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 url:https://research.nhgri.nih.gov/RBCmembrane/ 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. GARD:10255 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 SNOMEDCT_US_2023_03_01:155023009 UMLS_CUI:C0026769 Generalized multiple sclerosis insular sclerosis disease_ontology DOID:2377 OMIM mapping confirmed by DO. [LS]. multiple sclerosis MESH:D009103 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 url:https://ghr.nlm.nih.gov/condition/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. EFO:0003929 MESH:D020529 NCI:C165675 SNOMEDCT_US_2023_03_01:426373005 UMLS_CUI:C0751967 RRMS Relapsing-remitting MS disease_ontology DOID:2378 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. url:http://www.mayoclinic.org/multiple-sclerosis/types.html A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. GARD:6830 ICD10CM:P57 MESH:D007647 NCI:C84799 SNOMEDCT_US_2023_03_01:157135006 UMLS_CUI:C0022610 bilirubin encephalopathy disease_ontology DOID:2382 kernicterus A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. url:https://en.wikipedia.org/wiki/Kernicterus url:https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm 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. ICD10CM:P59.9 MESH:D007567 NCI:C99246 SNOMEDCT_US_2023_03_01:299968002 UMLS_CUI:C0022353 neonatal hyperbilirubinemia neonatal icterus disease_ontology DOID:2383 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. url:http://en.wikipedia.org/wiki/Neonatal_jaundice url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm ICD9CM:593.81 NCI:C35338 SNOMEDCT_US_2023_03_01:16934004 UMLS_CUI:C0268790 renal vascular disease vascular disorder of kidney disease_ontology DOID:2388 renal artery disease NCI:C39860 SNOMEDCT_US_2023_03_01:72815004 UMLS_CUI:C0268837 disease_ontology cystitis glandularis DOID:2392 glandular cystitis A female reproductive organ cancer that is located_in the ovary. DOID:0060070 DOID:2144 DOID:9595 GARD:7295 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213500 ORDO:213517 SNOMEDCT_US_2023_03_01:123843001 SNOMEDCT_US_2023_03_01:372117006 SNOMEDCT_US_2023_03_01:93934004 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247 malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary disease_ontology DOID:2394 Xref MGI. OMIM mapping confirmed by DO. [SN]. ovarian cancer A female reproductive organ cancer that is located_in the ovary. url:http://www.cancer.gov/dictionary?CdrID=445074 MESH:D007499 NCI:C34737 SNOMEDCT_US_2023_03_01:85478004 UMLS_CUI:C0022078 disease_ontology DOID:240 iris disease A vulva cancer that is located_in the clitoris. DOID:2400 ICD10CM:C51.2 ICD9CM:184.3 NCI:C3557 NCI:C9362 SNOMEDCT_US_2023_03_01:93758009 UMLS_CUI:C0153589 UMLS_CUI:C1333070 Clitoral Ca carcinoma of Clitoris clitoral cancer malignant neoplasm of clitoris malignant tumor of Clitoris disease_ontology DOID:2401 clitoris cancer A vulva cancer that is located_in the clitoris. url:https://scialert.net/fulltext/?doi=ijcr.2008.110.126 NCI:C5617 SNOMEDCT_US_2023_03_01:254763007 UMLS_CUI:C0346060 granular cell neoplasm of the skin granular cell tumor of skin granular cell tumour of skin skin granular cell tumour disease_ontology DOID:2410 skin granular cell tumor GARD:9618 ICDO:9580/0 MESH:D016586 NCI:C3474 SNOMEDCT_US_2023_03_01:12169001 UMLS_CUI:C0085167 neoplasm of granular cell disease_ontology DOID:2411 granular cell tumor NCI:C4481 SNOMEDCT_US_2023_03_01:254766004 UMLS_CUI:C0346063 Ganglioneuroma of skin disease_ontology DOID:2425 cutaneous ganglioneuroma A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. GARD:10638 ICDO:9492/0 MESH:D005729 NCI:C6934 SNOMEDCT_US_2021_09_01:128919000 gangliocytoma of central nervous system disease_ontology DOID:2426 gangliocytoma A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. url:https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18 url:https://radiopaedia.org/articles/gangliocytoma url:https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma NCI:C4491 SNOMEDCT_US_2023_03_01:254795008 UMLS_CUI:C0346083 Glomus skin neoplasm Glomus tumor of skin Glomus tumour of skin skin glomus tumour disease_ontology DOID:2430 skin 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. ICDO:8711/0 MESH:D005918 NCI:C3060 SNOMEDCT_US_2023_03_01:189193002 UMLS_CUI:C0017653 Glomus neoplasm Glomus tumour disease_ontology DOID:2431 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. url:https://en.wikipedia.org/wiki/Glomus_tumor NCI:C4463 SNOMEDCT_US_2023_03_01:126489007 UMLS_CUI:C0345988 neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour disease_ontology DOID:2433 epidermal appendage tumor NCI:C6750 SNOMEDCT_US_2023_03_01:403970001 UMLS_CUI:C1275226 Cutaneous Glomangioma Glomangioma of skin disease_ontology DOID:2435 skin glomangioma A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. ICDO:8712/0 MESH:D005918 NCI:C4222 OMIM:138000 ORDO:83454 SNOMEDCT_US_2023_03_01:7429002 UMLS_CUI:C0334421 Glomuvenous Malformation disease_ontology DOID:2436 glomangioma A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. url:https://pubmed.ncbi.nlm.nih.gov/21163162/ NCI:C4475 SNOMEDCT_US_2023_03_01:254735005 UMLS_CUI:C0346041 dermis tumour neoplasm of Dermis tumor of dermis tumour of dermis disease_ontology DOID:2438 dermis tumor A squamous cell carcinoma that is located_in the frontal sinus. NCI:C6067 SNOMEDCT_US_2023_03_01:1260048003 UMLS_CUI:C1333646 Epidermoid carcinoma of the Frontal sinus disease_ontology DOID:2441 frontal sinus squamous cell carcinoma A squamous cell carcinoma that is located_in the frontal sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/22169549 A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. GARD:5725 MESH:D000172 NCI:C84533 SNOMEDCT_US_2023_03_01:154698000 UMLS_CUI:C0001206 disease_ontology DOID:2449 acromegaly 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 ICD10CM:H34.81 ICD9CM:362.35 MESH:D012170 NCI:C118859 SNOMEDCT_US_2023_03_01:193378003 UMLS_CUI:C0154841 disease_ontology DOID:2450 central retinal vein occlusion A thrombophilia that is characterized by increased risk of developing abnormal blood clots. GARD:4524 ICD10CM:D68.59 MESH:D018455 NCI:C99026 SNOMEDCT_US_2023_03_01:1563006 UMLS_CUI:C0242666 Protein S deficiency disease disease_ontology DOID:2451 protein S deficiency A thrombophilia that is characterized by increased risk of developing abnormal blood clots. url:https://medlineplus.gov/genetics/condition/protein-s-deficiency/ A blood coagulation disease that is characterized by an increased tendency to form clots. ICD10CM:D68.59 MESH:D019851 NCI:C84479 OMIM:PS188050 SNOMEDCT_US_2023_03_01:191302007 UMLS_CUI:C0398623 hypercoagulability state disease_ontology DOID:2452 OMIM mapping confirmed by DO. [LS]. thrombophilia MESH:D019851 A blood coagulation disease that is characterized by an increased tendency to form clots. url:https://en.wikipedia.org/wiki/Thrombophilia url:https://www.nhs.uk/conditions/thrombophilia/ A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. ICD10CM:H10.5 ICD9CM:372.2 NCI:C34430 SNOMEDCT_US_2023_03_01:155164001 UMLS_CUI:C0005743 disease_ontology DOID:2456 blepharoconjunctivitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. url:http://en.wikipedia.org/wiki/Conjunctivitis GARD:8445 MESH:D003233 NCI:C34507 SNOMEDCT_US_2023_03_01:231857004 UMLS_CUI:C0009769 disease_ontology DOID:2457 giant papillary conjunctivitis NCI:C35616 SNOMEDCT_US_2023_03_01:416878008 UMLS_CUI:C0854165 disease_ontology DOID:2458 papillary conjunctivitis NCI:C35170 SNOMEDCT_US_2023_03_01:57534004 UMLS_CUI:C0154833 retina circulation disorder disease_ontology DOID:2462 retinal vascular disease GARD:7854 ICD10CM:H10.44 ICD9CM:372.13 MESH:D003233 NCI:C34508 SNOMEDCT_US_2023_03_01:193867003 UMLS_CUI:C0009773 disease_ontology DOID:2474 vernal conjunctivitis ICD10CM:H10.4 ICD9CM:372.1 NCI:C35197 SNOMEDCT_US_2023_03_01:155163007 UMLS_CUI:C0155145 disease_ontology DOID:2475 chronic conjunctivitis A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. GARD:6637 ICD10CM:G11.4 ICD9CM:334.1 MESH:D015419 NCI:C140267 OMIM:PS303350 SNOMEDCT_US_2023_03_01:267692008 UMLS_CUI:C0037773 French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis disease_ontology DOID:2476 Xref MGI. hereditary 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 A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. ICD10CM:G60.0 MESH:D015417 NCI:C75467 SNOMEDCT_US_2023_03_01:128202008 UMLS_CUI:C0027888 HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy disease_ontology DOID:2477 motor peripheral neuropathy A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. url:https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. DOID:246 MESH:D014134 NCI:C3419 NCI:C6049 SNOMEDCT_US_2023_03_01:126703006 UMLS_CUI:C0040582 UMLS_CUI:C1336772 leiomyoma of the Trachea disease_ontology DOID:248 trachea leiomyoma A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pubmed/26026331 ICD9CM:275.3 MESH:D010760 NCI:C97095 SNOMEDCT_US_2023_03_01:190858002 UMLS_CUI:C0031707 Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder disease_ontology DOID:2485 phosphorus metabolism disease A neuropathy that involves damage to nerves of the peripheral nervous system. DOID:10596 ICD9CM:356.2 MESH:D009477 NCI:C3501 SNOMEDCT_US_2023_03_01:193163001 SNOMEDCT_US_2023_03_01:95662005 UMLS_CUI:C0151313 UMLS_CUI:C0699739 peripheral Sensory Neuropathy sensory neuropathy disease_ontology DOID:2491 sensory peripheral neuropathy A neuropathy that involves damage to nerves of the peripheral nervous system. url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 ls:IEDB MESH:D020252 NCI:C84724 SNOMEDCT_US_2023_03_01:412795008 UMLS_CUI:C0267211 Watermelon stomach disease_ontology DOID:2493 gastric antral vascular ectasia NCI:C4390 SNOMEDCT_US_2023_03_01:5050001 UMLS_CUI:C0343082 Senile hemangioma Senile naevus of skin disease_ontology DOID:2495 senile angioma A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. DOID:13377 GARD:7730 ICD10CM:M31.4 ICD9CM:446.7 MESH:D001015 MESH:D013625 NCI:C34391 NCI:C35062 OMIM:207600 SNOMEDCT_US_2023_03_01:359789008 SNOMEDCT_US_2023_03_01:42153001 UMLS_CUI:C0003490 UMLS_CUI:C0039263 Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome disease_ontology DOID:2508 OMIM mapping confirmed by DO. [SN]. Takayasu's arteritis A vasculitis 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 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. MESH:D020232 NCI:C84802 SNOMEDCT_US_2023_03_01:10651001 UMLS_CUI:C0270707 Klver-Bucy syndrome disease_ontology DOID:2510 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. 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 A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. GARD:7166 MEDDRA:10062804 MESH:D001478 NCI:C2892 OMIM:PS109400 ORDO:377 SNOMEDCT_US_2023_03_01:69408002 UMLS_CUI:C0004779 Gorlin syndrome NBCCS basal cell nevus syndrome disease_ontology DOID:2512 OMIM mapping confirmed by DO. [SN]. nevoid basal cell carcinoma syndrome A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. url:https://medlineplus.gov/genetics/condition/gorlin-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/11932998/ A skin carcinoma affecting basal cells. DOID:4275 DOID:4276 EFO:0004193 ICDO:8090/3 KEGG:05217 MESH:D018295 NCI:C156767 NCI:C3784 NCI:C7586 SNOMEDCT_US_2023_03_01:127570002 SNOMEDCT_US_2023_03_01:154507009 SNOMEDCT_US_2023_03_01:252995000 UMLS_CUI:C0007117 UMLS_CUI:C0206710 UMLS_CUI:C1368295 Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor disease_ontology DOID:2513 Xref MGI. basal cell carcinoma A skin carcinoma affecting basal cells. url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma NCI:C5432 SNOMEDCT_US_2023_03_01:445513004 UMLS_CUI:C1334237 intracranial Cavernoma disease_ontology DOID:2516 intracranial cavernous angioma ICD10CM:D18.02 ICD9CM:228.02 NCI:C3633 SNOMEDCT_US_2023_03_01:93468003 UMLS_CUI:C0154050 Angioma of intracranial Structure hemangioma of intracranial structure hemangioma of intracranial structures disease_ontology DOID:2517 intracranial structure hemangioma ICD10CM:N45.2 MESH:D009920 NCI:C97145 SNOMEDCT_US_2023_03_01:367112009 UMLS_CUI:C0029191 Inflammation of testis Orchititis disease_ontology DOID:2518 orchitis MESH:D013733 NCI:C26890 SNOMEDCT_US_2023_03_01:236763001 UMLS_CUI:C0039584 disorder of testis testis disorder disease_ontology DOID:2519 testicular disease A prostate carcinoma that derives_from epithelial cells of glandular origin. NCI:C2919 SNOMEDCT_US_2023_03_01:399490008 UMLS_CUI:C0007112 disease_ontology DOID:2526 prostate adenocarcinoma 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 DOID:0000815 ICD10CM:D73 ICD9CM:289.50 MESH:D013158 NCI:C35823 SNOMEDCT_US_2023_03_01:51244008 UMLS_CUI:C0037997 Dyssplenism Spleen disease disease_ontology DOID:2529 splenic disease ICD10CM:D73.3 NCI:C35347 SNOMEDCT_US_2023_03_01:82053000 UMLS_CUI:C0272412 disease_ontology DOID:2530 splenic abscess An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. DOID:1034 DOID:2532 MESH:D019337 NCI:C27134 SNOMEDCT_US_2023_03_01:414388001 UMLS_CUI:C0376544 Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm disease_ontology DOID:2531 hematologic cancer An organ 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 ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2023_03_01:128209004 UMLS_CUI:C0393819 disease_ontology DOID:2536 chronic inflammatory demyelinating polyneuritis A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. GARD:6855 ICD10CM:G40.8 MESH:D018887 NCI:C84806 OMIM:245570 ORDO:98818 SNOMEDCT_US_2023_03_01:230438007 UMLS_CUI:C0282512 acquired epileptic aphasia disease_ontology DOID:2538 OMIM mapping confirmed by DO. [SN]. Landau-Kleffner syndrome A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. url:https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/ ICD10CM:D18.03 ICD9CM:228.04 NCI:C3635 SNOMEDCT_US_2023_03_01:93467008 UMLS_CUI:C0154052 hemangioma of intra-abdominal structures hemangioma, Intra-abdominal disease_ontology DOID:254 hemangioma of intra-abdominal structure An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. NCI:C7760 SNOMEDCT_US_2023_03_01:111498005 UMLS_CUI:C0270849 disease_ontology DOID:2544 extratemporal epilepsy 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 A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. MESH:D020195 NCI:C85041 SNOMEDCT_US_2023_03_01:79745005 UMLS_CUI:C0270857 epilepsy, sensory-induced disease_ontology DOID:2548 reflex epilepsy A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/ A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. ICD10CM:D18.0 ICD9CM:228.00 ICDO:9120/0 MESH:D006391 NCI:C3085 SNOMEDCT_US_2023_03_01:154625006 UMLS_CUI:C0018916 disease_ontology DOID:255 hemangioma A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. url:http://en.wikipedia.org/wiki/Hemangioma NCI:C4687 SNOMEDCT_US_2023_03_01:230449001 UMLS_CUI:C0393724 disease_ontology DOID:2550 tactile epilepsy MESH:D020293 NCI:C34653 SNOMEDCT_US_2023_03_01:1260127003 UMLS_CUI:C0018202 disease_ontology DOID:2555 granulomatous angiitis A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. GARD:7417 ICD10CM:M94.1 MESH:D011081 NCI:C157268 SNOMEDCT_US_2023_03_01:72275000 UMLS_CUI:C0032453 Chondromalacia, systemic disease_ontology DOID:2556 relapsing polychondritis A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. url:https://pubmed.ncbi.nlm.nih.gov/26711694/ url:https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis NCI:C8541 SNOMEDCT_US_2023_03_01:93472004 UMLS_CUI:C0685201 Splenic hemangioma disease_ontology DOID:256 hemangioma of spleen MESH:D010482 NCI:C34913 SNOMEDCT_US_2023_03_01:34597006 UMLS_CUI:C0031024 Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis disease_ontology DOID:2562 suppurative periapical periodontitis 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. ICD10CM:H18.55 ICD9CM:371.55 MESH:D003317 NCI:C34793 OMIM:217800 SNOMEDCT_US_2023_03_01:60258001 UMLS_CUI:C0024439 Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1 disease_ontology DOID:2565 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. url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy url:http://www.omim.org/entry/217800?search=217800&highlight=217800 url:https://www.ncbi.nlm.nih.gov/pubmed/11017086 url:https://www.ncbi.nlm.nih.gov/pubmed/17093400 DOID:8944 ICD10CM:H18.5 ICD9CM:371.5 MESH:D003317 NCI:C34512 NCI:C34513 SNOMEDCT_US_2023_03_01:5587004 SNOMEDCT_US_2023_03_01:77797009 UMLS_CUI:C0010035 UMLS_CUI:C0010036 disease_ontology DOID:2566 corneal dystrophy A cervix disease that is characterized by inflammation of the cervix. DOID:10110 ICD10CM:N72 ICD9CM:616.0 MESH:D002575 NCI:C26716 SNOMEDCT_US_2023_03_01:198199009 SNOMEDCT_US_2023_03_01:237081003 UMLS_CUI:C0007860 UMLS_CUI:C0007861 disease_ontology DOID:2568 cervicitis A cervix disease that is characterized by inflammation of the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/23584805 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:9582 ICD10CM:C96.0 ICD10CM:C96.6 ICD9CM:202.5 ICDO:9751/1 MESH:C538636 MESH:D006646 NCI:C3107 NCI:C3160 OMIM:246400 OMIM:604856 SNOMEDCT_US_2023_03_01:154583006 SNOMEDCT_US_2023_03_01:234439008 UMLS_CUI:C0019621 UMLS_CUI:C0023381 Histiocytosis X Langerhan's cell histiocytosis 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 intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck 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 Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen disease_ontology DOID:2571 OMIM mapping confirmed by DO. [SN]. Langerhans-cell histiocytosis A histiocytosis that is characterized by clonal proliferation of Langerhans cells. url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. GARD:13160 ICD10CM:E71.540 MESH:D018902 NCI:C85047 OMIM:PS215100 ORDO:177 SNOMEDCT_US_2023_03_01:56692003 UMLS_CUI:C0282529 Chondrodysplasia Punctata, Rhizomelic Form disease_ontology DOID:2580 OMIM mapping confirmed by DO. [SN]. rhizomelic chondrodysplasia punctata A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata url:https://www.ncbi.nlm.nih.gov/pubmed/15679822 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. GARD:8542 ICD10CM:Q77.3 MESH:D002806 NCI:C84632 OMIM:215105 ORDO:93442 SNOMEDCT_US_2023_03_01:205486004 UMLS_CUI:C0008445 Chondrodysplasia punctata congenita disease_ontology DOID:2581 DeObs MGI. chondrodysplasia punctata MESH:D002806 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. url:https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1 url:https://www.ncbi.nlm.nih.gov/pubmed/22229330 A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. GARD:363 MESH:D020642 NCI:C84526 OMIM:614097 ORDO:926 SNOMEDCT_US_2023_03_01:190954001 UMLS_CUI:C0268419 acatalasemia deficiency of catalase disease_ontology DOID:2582 acatalasia A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. url:https://pubmed.ncbi.nlm.nih.gov/1999334/ A B cell deficiency that is caused by a reduction in all types of gamma globulins. DOID:618 ICD10CM:D80.1 ICD9CM:279.00 MESH:D000361 NCI:C26931 OMIM:PS601495 SNOMEDCT_US_2023_03_01:119250001 SNOMEDCT_US_2023_03_01:267512002 UMLS_CUI:C0001768 UMLS_CUI:C0086438 IGHM hypogammaglobulinemia mu heavy chain deficiency disease_ontology DOID:2583 OMIM mapping confirmed by DO. [SN]. agammaglobulinemia MESH:D000361 A B cell deficiency that is caused by a reduction in all types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia A nephrotic syndrome that has_material_basis_in genetic mutations. ICD10CM:N04 MESH:C535761 NCI:C35337 OMIM:PS256300 SNOMEDCT_US_2023_03_01:48796009 UMLS_CUI:C3501848 Congenital nephrotic syndrome disease_ontology DOID:2590 familial nephrotic syndrome A nephrotic syndrome that has_material_basis_in genetic mutations. url:https://www.ncbi.nlm.nih.gov/pubmed/19066979 ICD10CM:C32.0 ICD9CM:161.0 NCI:C3544 SNOMEDCT_US_2023_03_01:187841006 UMLS_CUI:C0153483 Ca larynx - glottis malignant tumor of glottis malignant tumor of the Glottis disease_ontology DOID:2595 glottis cancer A respiratory system cancer that is located_in the larynx. GARD:6862 ICD10CM:C32 ICD9CM:161 MESH:D007822 NCI:C7484 SNOMEDCT_US_2023_03_01:93859007 UMLS_CUI:C0007107 disease_ontology DOID:2596 larynx cancer A respiratory system cancer that is located_in the larynx. url:http://en.wikipedia.org/wiki/Larynx NCI:C4425 SNOMEDCT_US_2023_03_01:126693009 UMLS_CUI:C0345713 neoplasm of glottis tumor of the Glottis disease_ontology DOID:2597 glottis neoplasm MESH:D007822 NCI:C3156 SNOMEDCT_US_2023_03_01:126692004 UMLS_CUI:C0023055 laryngeal tumor larynx neoplasm neoplasm of larynx disease_ontology DOID:2598 laryngeal benign neoplasm NCI:C4923 SNOMEDCT_US_2023_03_01:372103002 UMLS_CUI:C0740083 Glottic carcinoma carcinoma of glottis disease_ontology DOID:2599 glottis carcinoma A larynx cancer that has_material_basis_in epithelial cells. NCI:C4855 SNOMEDCT_US_2023_03_01:154480006 UMLS_CUI:C0595989 cancer of larynx carcinoma of larynx disease_ontology DOID:2600 laryngeal carcinoma A larynx cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C4302 SNOMEDCT_US_2023_03_01:9266000 UMLS_CUI:C0334548 Periosteal Chondroma disease_ontology DOID:2601 juxtacortical chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. GARD:6052 ICDO:9220/0 MESH:D002812 NCI:C53459 SNOMEDCT_US_2023_03_01:269638002 UMLS_CUI:C0936248 central Chondroma disease_ontology DOID:2602 chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. url:http://en.wikipedia.org/wiki/Chondroma A cell type benign neoplasm that has_material_basis_in gland and muscle components. ICDO:8932/0 MESH:D018194 NCI:C3726 SNOMEDCT_US_2023_03_01:40293003 UMLS_CUI:C0206622 disease_ontology DOID:2609 adenomyoma MESH:D018194 A cell type benign neoplasm that has_material_basis_in gland and muscle components. url:http://en.wikipedia.org/wiki/Adenomyoma ICDO:8461/0 NCI:C4181 SNOMEDCT_US_2023_03_01:67073007 UMLS_CUI:C0334360 disease_ontology DOID:2614 serous surface papilloma A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. DOID:1635 ICDO:8050/0 MESH:D010212 NCI:C3713 NCI:C7440 SNOMEDCT_US_2023_03_01:711329002 SNOMEDCT_US_2023_03_01:82049002 UMLS_CUI:C0030354 UMLS_CUI:C0205875 papillomatosis disease_ontology DOID:2615 papilloma 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 A kidney cancer which is manifested in the kidney. NCI:C4527 SNOMEDCT_US_2023_03_01:254923001 UMLS_CUI:C0346256 hemangiopericytoma of kidney renal hemangiopericytoma disease_ontology DOID:262 kidney 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/ A peripheral nervous system neoplasm that is located_in the autonomic nervous system. NCI:C5112 UMLS_CUI:C1332356 tumor of Autonomic nervous system disease_ontology DOID:2621 autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system. url:http://en.wikipedia.org/wiki/Autonomic_nervous_system DOID:3661 GARD:4214 ICDO:9390/0 MESH:D020288 NCI:C3698 NCI:C5800 OMIM:260500 SNOMEDCT_US_2023_03_01:18021007 UMLS_CUI:C0205770 UMLS_CUI:C1332963 childhood choroid plexus papilloma disease_ontology DOID:2626 OMIM mapping confirmed by DO. [SN]. choroid plexus papilloma A urinary system cancer that is located_in the kidney. DOID:11834 DOID:3676 ICD10CM:C64 ICD9CM:189.0 MESH:D007680 NCI:C120456 NCI:C3150 NCI:C7548 SNOMEDCT_US_2023_03_01:126880001 SNOMEDCT_US_2023_03_01:93849006 UMLS_CUI:C0022665 UMLS_CUI:C0494158 UMLS_CUI:C0740457 malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer disease_ontology DOID:263 kidney cancer A urinary system cancer that is located_in the kidney. url:http://en.wikipedia.org/wiki/Kidney_cancer A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. DOID:5589 NCI:C4182 SNOMEDCT_US_2021_09_01:90725004 Micropapillary serous carcinoma Papillary serous carcinoma serous surface papillary carcinoma disease_ontology DOID:2632 papillary serous adenocarcinoma A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. url:https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534 An adenoma that forms a cyst. ICDO:8440/0 MESH:D003537 NCI:C2972 SNOMEDCT_US_2023_03_01:189680006 UMLS_CUI:C0010633 Cystoma disease_ontology DOID:2634 cystadenoma An adenoma that forms a cyst. url:http://en.wikipedia.org/wiki/Cystadenoma An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. GARD:9397 MESH:D001948 NCI:C39954 UMLS_CUI:C0006160 benign ovarian Brenner tumor benign ovarian Brenner tumour ovarian Brenner tumour disease_ontology DOID:2636 ovarian Brenner tumor An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://en.wikipedia.org/wiki/Brenner_tumour A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. NCI:C4272 SNOMEDCT_US_2023_03_01:41382006 UMLS_CUI:C0334497 Pericanalicular Fibroadenoma of breast Pericanalicular fibroadenoma disease_ontology DOID:2639 breast pericanalicular fibroadenoma A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. url:https://en.wikipedia.org/wiki/Fibroadenoma A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. DOID:5372 GARD:2627 ICDO:9150/3 MESH:D006393 NCI:C3087 SNOMEDCT_US_2023_03_01:134335004 UMLS_CUI:C0018922 Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma disease_ontology DOID:264 hemangiopericytoma A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. url:http://en.wikipedia.org/wiki/Hemangiopericytoma An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. DOID:5209 ICDO:9090/0 MESH:D013330 NCI:C7468 SNOMEDCT_US_2023_03_01:24327009 UMLS_CUI:C0038478 disease_ontology benign struma ovarii DOID:2640 struma ovarii An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25640097 url:https://www.ncbi.nlm.nih.gov/pubmed/26374222 A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. NCI:C8113 UMLS_CUI:C0280134 Ovarian Monodermal and Highly Specialized teratoma disease_ontology DOID:2641 ovarian germ cell monodermal and highly specialized teratoma A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/12440821 MESH:D054973 NCI:C38150 SNOMEDCT_US_2023_03_01:388601000 UMLS_CUI:C1300127 PEComa neoplasm with Perivascular epithelioid cell differentiation disease_ontology DOID:2643 perivascular epithelioid cell tumor A cell type benign neoplasm that has_material_basis_in mesothelium. DOID:2644 ICD10CM:C45 MESH:D008654 NCI:C3234 SNOMEDCT_US_2023_03_01:154491004 UMLS_CUI:C0025500 benign tumor of Mesothelium disease_ontology DOID:2645 benign mesothelioma 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 ICDO:9373/0 NCI:C6581 SNOMEDCT_US_2023_03_01:404086000 UMLS_CUI:C1266175 disease_ontology DOID:2647 parachordoma DOID:7387 NCI:C4174 SNOMEDCT_US_2023_03_01:78424008 UMLS_CUI:C1368816 adenoma of the Sebaceous gland skin appendage sebaceous adenoma disease_ontology DOID:2648 sebaceous adenoma A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. GARD:6047 ICDO:9230/1 MESH:D002804 NCI:C2945 SNOMEDCT_US_2023_03_01:9001003 UMLS_CUI:C0008441 Chondroblastoma of bone disease_ontology DOID:2649 chondroblastoma A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma url:https://www.ncbi.nlm.nih.gov/books/NBK536947/ 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. NCI:C4564 SNOMEDCT_US_2023_03_01:187821001 UMLS_CUI:C0346424 Splenic hemangiosarcoma angiosarcoma of spleen disease_ontology DOID:265 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. url:https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308 MESH:D054363 NCI:C4457 SNOMEDCT_US_2023_03_01:15702005 UMLS_CUI:C0334511 fibrous mesothelioma, benign localized benign fibrous Mesothelioma disease_ontology DOID:2653 benign fibrous mesothelioma A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. NCI:C4271 SNOMEDCT_US_2023_03_01:72905006 UMLS_CUI:C0334496 disease_ontology DOID:2656 breast intracanalicular fibroadenoma A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. url:https://en.wikipedia.org/wiki/Fibroadenoma A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). ICD10CM:K09.8 ICDO:9084/0 MESH:D003884 NCI:C9011 SNOMEDCT_US_2023_03_01:189117002 UMLS_CUI:C0011649 Dermoid choristoma Dermoid tumour Mature cystic teratoma cystic dermoid choristoma teratoma, benign disease_ontology DOID:2658 dermoid cyst A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). url:https://en.wikipedia.org/wiki/Dermoid_cyst A benign teratoma that is characterized by the presence of cysts or cystic spaces. NCI:C9014 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368903 disease_ontology DOID:2660 cystic teratoma A benign teratoma that is characterized by the presence of cysts or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/23905455 A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. ICDO:8982/0 MESH:D009208 NCI:C40392 SNOMEDCT_US_2023_03_01:69291002 UMLS_CUI:C0027070 Myoepithelial adenoma Myoepithelial neoplasm benign myoepithelioma disease_ontology DOID:2661 myoepithelioma A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. url:http://medical-dictionary.thefreedictionary.com/myoepithelioma MESH:D013544 NCI:C3398 SNOMEDCT_US_2023_03_01:126490003 UMLS_CUI:C0038987 Sweat gland tumor neoplasm of sweat gland tumor of the Sweat gland disease_ontology DOID:2664 sweat gland benign neoplasm ICDO:8990/3 MESH:D008637 NCI:C3233 SNOMEDCT_US_2023_03_01:44524009 UMLS_CUI:C0025464 disease_ontology DOID:2668 mesenchymoma ICDO:9507/0 NCI:C4328 SNOMEDCT_US_2023_03_01:4230004 UMLS_CUI:C0334599 Pacinian neurofibroma disease_ontology DOID:2669 Pacinian tumor NCI:C4115 SNOMEDCT_US_2023_03_01:44342003 UMLS_CUI:C0334266 transitional cell papilloma transitional cell papilloma, benign disease_ontology DOID:2670 transitional papilloma A carcinoma that derives_from transitional epithelial cells. DOID:3995 GARD:7794 ICDO:8120/3 MESH:D002295 NCI:C2930 NCI:C6783 SNOMEDCT_US_2023_03_01:118287003 SNOMEDCT_US_2023_03_01:27090000 UMLS_CUI:C0007138 UMLS_CUI:C0334265 transitional carcinoma transitional cell tumor urothelial cell carcinoma disease_ontology transitional cell neoplasm DOID:2671 transitional cell carcinoma A carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. NCI:C7504 multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour disease_ontology DOID:2673 adult cystic nephroma A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. url:http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html url:https://www.ncbi.nlm.nih.gov/pubmed/27831959 GARD:10640 ICDO:9413/0 NCI:C9505 SNOMEDCT_US_2023_03_01:87211000119104 UMLS_CUI:C1266177 Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour disease_ontology DOID:2679 dysembryoplastic neuroepithelial tumor An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. GARD:5813 ICD10CM:C22.3 NCI:C4438 SNOMEDCT_US_2023_03_01:187770005 UMLS_CUI:C0345907 angiosarcoma of liver hemangiosarcoma of the Liver disease_ontology DOID:268 liver angiosarcoma An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. url:https://www.ncbi.nlm.nih.gov/pubmed/30093472 ICDO:8842/0 NCI:C6582 SNOMEDCT_US_2023_03_01:404076001 UMLS_CUI:C1266128 Ossifying Fibromyxoma ossifying fibromyxoid tumour disease_ontology DOID:2685 ossifying fibromyxoid tumor A sarcoma that is located_in the skin. NCI:C5585 UMLS_CUI:C0856900 Cutaneous sarcoma disease_ontology DOID:2687 skin sarcoma A sarcoma that is located_in the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/21146736 A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. DOID:2686 ICDO:9170/3 MESH:C537491 MESH:D008204 NCI:C3205 NCI:C4490 SNOMEDCT_US_2023_03_01:403986008 SNOMEDCT_US_2023_03_01:62497000 UMLS_CUI:C0024224 UMLS_CUI:C0346082 Lymphangiosarcoma of Stewart and Treves Stewart-Treves syndrome malignant Lymphangioendothelioma skin lymphangiosarcoma disease_ontology DOID:2689 lymphangiosarcoma A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. url:https://en.wikipedia.org/wiki/Lymphangiosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/9796078 A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. ICD10CM:D21 ICDO:8895/0 MESH:D009214 NCI:C4882 SNOMEDCT_US_2023_03_01:66357004 UMLS_CUI:C0027086 benign neoplasm of the Muscle disease_ontology DOID:2691 myoma A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/29789793 A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. DOID:0050616 MESH:D007984 NCI:C3188 NCI:C4213 SNOMEDCT_US_2023_03_01:45002009 SNOMEDCT_US_2023_03_01:77870005 UMLS_CUI:C0023601 UMLS_CUI:C0334410 Leydig cell neoplasm disease_ontology DOID:2696 Leydig cell tumor A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. url:https://en.wikipedia.org/wiki/Leydig_cell_tumour NCI:C8383 SNOMEDCT_US_2023_03_01:41627005 UMLS_CUI:C0334684 renal cell adenoma disease_ontology DOID:2697 renal adenoma NCI:C39812 SNOMEDCT_US_2023_03_01:128760004 UMLS_CUI:C1266141 Metanephric adenofibroma disease_ontology DOID:2698 nephrogenic adenofibroma A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. NCI:C4437 SNOMEDCT_US_2023_03_01:254601002 UMLS_CUI:C0345906 hepatic sarcoma disease_ontology DOID:270 liver 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 An adenofibroma that is characterized by the presence of mucin. ICDO:9015/0 NCI:C8978 SNOMEDCT_US_2023_03_01:10705005 UMLS_CUI:C0334499 disease_ontology DOID:2700 mucinous adenofibroma An adenofibroma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/ DOID:2665 MESH:D000070779 NCI:C3829 NCI:C6532 SNOMEDCT_US_2023_03_01:5178002 SNOMEDCT_US_2023_03_01:71508003 UMLS_CUI:C0221289 UMLS_CUI:C0588125 Synovioma, benign benign synovioma benign tumor of Synovium localized Giant cell tumor of Tenosynovium disease_ontology DOID:2701 nodular tenosynovitis GARD:7396 ICD10CM:M12.2 MESH:D013586 NCI:C3401 SNOMEDCT_US_2023_03_01:202903009 UMLS_CUI:C0039106 Diffuse Giant cell tumor of Tenosynovium villous tenosynovitis disease_ontology DOID:2702 pigmented villonodular synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. GARD:7722 MESH:D013585 NCI:C50766 SNOMEDCT_US_2023_03_01:268092005 UMLS_CUI:C0039103 disease_ontology DOID:2703 synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. url:https://en.wikipedia.org/wiki/Synovitis sn:IEDB NCI:C6535 SNOMEDCT_US_2023_03_01:128778009 UMLS_CUI:C1266168 Giant cell tumour of tendon sheath, malignant malignant Giant cell neoplasm of the Tendon Sheath disease_ontology DOID:2704 malignant giant cell tumor of the tendon sheath NCI:C4090 SNOMEDCT_US_2023_03_01:83950009 UMLS_CUI:C0334229 malignant Giant cell neoplasm malignant tumor, giant cell type disease_ontology DOID:2705 malignant giant cell tumor NCI:C6531 UMLS_CUI:C1334624 malignant tumor of Synovium disease_ontology DOID:2706 synovium cancer NCI:C3869 SNOMEDCT_US_2023_03_01:93469006 UMLS_CUI:C0238246 Angioma of Liver hepatic angioma disease_ontology DOID:271 hemangioma of liver ICD10CM:N47.1 MESH:D010688 NCI:C26852 SNOMEDCT_US_2023_03_01:449826002 UMLS_CUI:C0031538 Tight foreskin Tight frenulum disease_ontology DOID:2712 phimosis A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. MESH:D001816 NCI:C2903 OMIM:210900 ORDO:125 SNOMEDCT_US_2023_03_01:4434006 UMLS_CUI:C0005859 Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome disease_ontology DOID:2717 OMIM mapping confirmed by DO. [SN]. Bloom syndrome A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. url:http://ghr.nlm.nih.gov/condition/bloom-syndrome url:https://en.wikipedia.org/wiki/Bloom_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10823897 url:https://www.ncbi.nlm.nih.gov/pubmed/9482582 A vascular disease that is located_in the liver. NCI:C35442 SNOMEDCT_US_2023_03_01:235878005 UMLS_CUI:C0400923 vascular disorder of liver disease_ontology DOID:272 hepatic vascular disease A vascular disease that is located_in the liver. url:https://www.ncbi.nlm.nih.gov/pubmed/21055687 A dermatitis that selectively affects the hands and feet. GARD:5722 MESH:D000169 NCI:C84532 SNOMEDCT_US_2023_03_01:8197001 UMLS_CUI:C0001197 disease_ontology DOID:2722 acrodermatitis MESH:D000169 A dermatitis that selectively affects the hands and feet. url:http://en.wikipedia.org/wiki/Acrodermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. DOID:8614 DOID:8917 ICD10CM:L30.9 MESH:D003872 NCI:C2983 SNOMEDCT_US_2023_03_01:238538009 UMLS_CUI:C0011603 eczema skin inflammation disease_ontology DOID:2723 dermatitis 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 A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. ICD10CM:Q82.5 ICDO:9131/0 MESH:D018324 NCI:C7457 SNOMEDCT_US_2023_03_01:56975005 UMLS_CUI:C0206733 Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy disease_ontology DOID:2725 capillary hemangioma A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. url:https://eyewiki.aao.org/Capillary_Hemangioma 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. GARD:10905 MESH:D019871 NCI:C111802 OMIM:PS127550 ORDO:1775 SNOMEDCT_US_2023_03_01:74911008 UMLS_CUI:C0265965 DKCD disease_ontology DOID:2729 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. 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. url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. GARD:6359 ICD10CM:Q81 MESH:D004820 NCI:C67383 SNOMEDCT_US_2023_03_01:205580008 UMLS_CUI:C0014527 acantholysis bullosa disease_ontology DOID:2730 epidermolysis bullosa A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. url:https://rarediseases.org/rare-diseases/epidermolysis-bullosa/ A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. GARD:4392 ICD10CM:Q82.8 MESH:D011038 NCI:C3335 OMIM:268400 SNOMEDCT_US_2023_03_01:205572001 UMLS_CUI:C0032339 Congenital poikiloderma RTS disease_ontology DOID:2732 OMIM mapping confirmed by DO. [SN]. Rothmund-Thomson syndrome MESH:D011038 A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/20113479/ ICD10CM:L90 NCI:C35163 SNOMEDCT_US_2023_03_01:16343004 UMLS_CUI:C0151514 Atrophoderma Atrophy - skin atrophic condition of skin disease_ontology DOID:2733 skin atrophy ICD10CM:E50.8 MESH:D007644 NCI:C84665 OMIM:124200 SNOMEDCT_US_2023_03_01:157017000 UMLS_CUI:C0022595 DARIER-WHITE DISEASE Darier's disease disease_ontology DOID:2734 OMIM mapping confirmed by DO. [SN]. keratosis follicularis A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. DOID:2735 GARD:508 MESH:D030981 MESH:D031845 NCI:C35545 NCI:C84745 OMIM:102500 SNOMEDCT_US_2023_03_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990 Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome disease_ontology DOID:2736 OMIM mapping confirmed by DO. [SN]. Hajdu-Cheney syndrome A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. url:https://www.ncbi.nlm.nih.gov/pubmed/21378985 url:https://www.ncbi.nlm.nih.gov/pubmed/21378989 url:https://www.ncbi.nlm.nih.gov/pubmed/9714016 A connective tissue disease that is 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. GARD:9643 MESH:D011561 NCI:C85036 OMIM:177850 OMIM:264800 ORDO:758 SNOMEDCT_US_2023_03_01:7109007 UMLS_CUI:C0033847 Gronblad-Strandberg syndrome disease_ontology DOID:2738 Xref MGI. OMIM mapping confirmed by DO. [SN]. pseudoxanthoma elasticum A connective tissue disease that is 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 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. GARD:6507 ICD10CM:E80.4 MESH:D005878 NCI:C84729 OMIM:143500 SNOMEDCT_US_2023_03_01:27503000 UMLS_CUI:C0017551 Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice disease_ontology DOID:2739 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. DOID:2740 MESH:D006932 MESH:D006933 NCI:C84761 SNOMEDCT_US_2023_03_01:154770008 UMLS_CUI:C0020433 UMLS_CUI:C0020435 hereditary hyperbilirubinemia hyperbilirubinemia disease_ontology hyperbilirubinaemia DOID:2741 bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. DOID:1490 DOID:2011 ICD10CM:H93.9 ICD9CM:388.9 MESH:D004427 NCI:C26757 SNOMEDCT_US_2023_03_01:194193002 UMLS_CUI:C0013447 ear and mastoid disease disease_ontology DOID:2742 auditory system disease A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. url:https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false ICD10CM:N12 MESH:D011702 NCI:C34964 SNOMEDCT_US_2023_03_01:27174002 UMLS_CUI:C0034183 disease_ontology DOID:2744 pyelitis A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. ICD10CM:F60.81 ICD9CM:301.81 MESH:D010554 NCI:C92635 SNOMEDCT_US_2023_03_01:80711002 UMLS_CUI:C0027402 disease_ontology DOID:2745 narcissistic personality disorder 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 A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. GARD:6528 ICD10CM:E74.04 MESH:D006012 NCI:C84738 OMIM:232600 ORDO:368 SNOMEDCT_US_2023_03_01:55912009 UMLS_CUI:C0017924 Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency disease_ontology DOID:2746 OMIM mapping confirmed by DO. [SN]. glycogen storage disease V A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ 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. ICD10CM:E74.0 ICD9CM:271.0 MESH:D006008 NCI:C61272 SNOMEDCT_US_2023_03_01:267498002 UMLS_CUI:C0017919 glycogenosis glycogenoses disease_ontology DOID:2747 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. 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 A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. ICD10CM:E74.03 MESH:D006010 NCI:C84736 OMIM:232400 SNOMEDCT_US_2023_03_01:66937008 UMLS_CUI:C0017922 Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin disease_ontology DOID:2748 OMIM mapping confirmed by DO. [SN]. glycogen storage disease III A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/17047887/ NCI:C5481 UMLS_CUI:C1333770 hemangioma of stomach disease_ontology DOID:275 gastric hemangioma A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. GARD:2520 ICD10CM:E74.09 MESH:D006011 NCI:C84737 OMIM:232500 SNOMEDCT_US_2023_03_01:11179002 UMLS_CUI:C0017923 Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme disease_ontology DOID:2750 OMIM mapping confirmed by DO. [SN]. glycogen storage disease IV A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. url:https://pubmed.ncbi.nlm.nih.gov/17915577/ 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. GARD:5714 ICD10CM:E74.02 MESH:D006009 NCI:C84734 OMIM:232300 SNOMEDCT_US_2023_03_01:237967002 UMLS_CUI:C0017921 Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II disease_ontology DOID:2752 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II 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. ICD10CM:E74.09 MESH:D006013 NCI:C126875 OMIM:232700 ORDO:369 SNOMEDCT_US_2023_03_01:29291001 UMLS_CUI:C0017925 Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis disease_ontology DOID:2754 Xref MGI. 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. 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://pubmed.ncbi.nlm.nih.gov/25266922/ url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract 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. GARD:7123 MESH:D015270 NCI:C36197 SNOMEDCT_US_2023_03_01:14009004 UMLS_CUI:C0026916 Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex disease_ontology DOID:2755 Mycobacterium avium complex disease MESH:D015270 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:https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease url:https://pubmed.ncbi.nlm.nih.gov/35400550/ A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C36082 SNOMEDCT_US_2023_03_01:269568000 UMLS_CUI:C0700110 disease_ontology DOID:2762 bone carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A squamous cell carcinoma that is located_in the ethmoid sinus. NCI:C6065 SNOMEDCT_US_2023_03_01:1260046004 UMLS_CUI:C1333477 Epidermoid carcinoma of the ethmoidal sinus disease_ontology DOID:2763 ethmoid sinus squamous cell carcinoma A squamous cell carcinoma that is located_in the ethmoid sinus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/ NCI:C6238 UMLS_CUI:C1333473 adenoid cystic carcinoma of the ethmoid sinus disease_ontology adenoid cystic carcinoma of ethmoid sinus DOID:2764 ethmoid sinus adenoid cystic carcinoma An ethmoid sinus cancer that derives from epithelial cells of glandular origin. NCI:C6237 UMLS_CUI:C1333472 adenocarcinoma of the ethmoid sinus disease_ontology adenocarcinoma of ethmoid sinus DOID:2766 ethmoid sinus adenocarcinoma An ethmoid sinus cancer that derives from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. ICD10CM:F95.0 ICD9CM:307.21 MESH:D013981 NCI:C116767 SNOMEDCT_US_2023_03_01:192622000 UMLS_CUI:C0040702 disease_ontology DOID:2768 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. url:http://en.wikipedia.org/wiki/Tic_disorder MESH:D006391 NCI:C4868 SNOMEDCT_US_2023_03_01:699948001 UMLS_CUI:C0677608 Placental hemangioma disease_ontology DOID:277 chorioangioma A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. ICD10CM:L24.9 MESH:D017453 NCI:C27151 SNOMEDCT_US_2023_03_01:110979008 UMLS_CUI:C0162823 irritant contact dermatitis primary irritant dermatitis disease_ontology DOID:2772 irritant dermatitis A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. url:https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/ ICD10CM:L25.9 MESH:D003877 NCI:C26743 SNOMEDCT_US_2023_03_01:156338009 UMLS_CUI:C0011616 Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata disease_ontology DOID:2773 contact dermatitis An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. MESH:D050398 NCI:C7644 OMIM:102660 SNOMEDCT_US_2023_03_01:56763007 UMLS_CUI:C0334556 disease_ontology DOID:2775 OMIM mapping confirmed by DO. [SN]. long bone adamantinoma An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. url:http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html A bone cancer that is located_in almost exclusively in the long bones. MESH:D050398 NCI:C7644 ORDO:55881 SNOMEDCT_US_2023_03_01:56763007 UMLS_CUI:C0334556 adamantinoma of long bones disease_ontology DOID:2776 adamantinoma MESH:D050398 A bone cancer that is located_in almost exclusively in the long bones. url:https://www.ncbi.nlm.nih.gov/pubmed/30844202 NCI:C4877 SNOMEDCT_US_2023_03_01:126848003 UMLS_CUI:C0345873 Rectosigmoid tumor neoplasm of rectosigmoid junction rectosigmoid neoplasm disease_ontology DOID:2780 rectosigmoid junction neoplasm NCI:C7421 UMLS_CUI:C1327709 disease_ontology DOID:2781 rectosigmoid cancer ICD10CM:C19 ICD9CM:154.0 NCI:C7420 SNOMEDCT_US_2023_03_01:363414004 UMLS_CUI:C0153443 malignant Rectosigmoid tumor malignant neoplasm of rectosigmoid malignant neoplasm of rectosigmoid junction malignant tumor of rectosigmoid junction disease_ontology DOID:2782 rectosigmoid junction cancer A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. NCI:C4860 UMLS_CUI:C0598790 pulmonary sarcoma disease_ontology DOID:2784 lung sarcoma A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. GARD:6242 ICD10CM:Q03.1 MESH:D003616 NCI:C75012 OMIM:220200 SNOMEDCT_US_2023_03_01:14447001 UMLS_CUI:C0010964 Atresia of foramina of Magendie and Luschka disease_ontology DOID:2785 OMIM mapping confirmed by DO. [SN]. Dandy-Walker syndrome A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. url:http://omim.org/entry/220200 url:https://en.wikipedia.org/wiki/Dandy-Walker_syndrome url:https://ghr.nlm.nih.gov/condition/dandy-walker-malformation A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. DOID:0060003 DOID:10553 DOID:3734 DOID:3804 DOID:947 ICD10CM:B64 MESH:D011528 NCI:C34953 SNOMEDCT_US_2023_03_01:95896000 UMLS_CUI:C0033740 mastigophora infectious disease sarcomastigophora infectious disease disease_ontology DOID:2789 parasitic protozoa 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 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 ICD10CM:B76.1 MESH:D009332 NCI:C34838 SNOMEDCT_US_2023_03_01:36667009 UMLS_CUI:C0027528 disease_ontology DOID:2790 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. url:http://en.wikipedia.org/wiki/Necator_americanus 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. GARD:9551 MESH:D001989 NCI:C62580 SNOMEDCT_US_2023_03_01:40100001 UMLS_CUI:C0006272 Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis disease_ontology DOID:2799 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans 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. ICD10CM:E34.9 ICD9CM:259.9 MESH:D004700 NCI:C3009 SNOMEDCT_US_2023_03_01:67432001 UMLS_CUI:C0014130 disease_ontology DOID:28 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. url:http://en.wikipedia.org/wiki/Endocrine_system 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. GARD:12835 ICD10CM:J84.114 ICD9CM:516.33 NCI:C35806 ORDO:79126 SNOMEDCT_US_2023_03_01:129459004 UMLS_CUI:C1279945 AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis disease_ontology DOID:2800 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. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 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. NCI:C35717 SNOMEDCT_US_2023_03_01:129452008 UMLS_CUI:C1290344 NSIP disease_ontology DOID:2801 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. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh ICD10CM:C72.4 NCI:C4539 SNOMEDCT_US_2023_03_01:93660000 UMLS_CUI:C0346331 malignant tumor of acoustic vestibular nerve malignant tumor of the Vestibulocochlear nerve malignant tumour of acoustic vestibular nerve disease_ontology DOID:2814 malignant neoplasm of acoustic nerve A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. DOID:338 ICD10CM:C72.50 ICD9CM:192.0 MESH:D003390 NCI:C2963 NCI:C3571 SNOMEDCT_US_2023_03_01:126966009 SNOMEDCT_US_2023_03_01:188311003 UMLS_CUI:C0010267 UMLS_CUI:C0153644 malignant neoplasm of cranial nerve malignant tumor of cranial nerve malignant tumor of the Cranial nerve disease_ontology DOID:2815 cranial nerve malignant neoplasm A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. url:https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15 NCI:C6995 SNOMEDCT_US_2023_03_01:93929003 UMLS_CUI:C0686417 IIIrd Cranial nerve neoplasm, malignant primary malignant neoplasm of oculomotor nerve disease_ontology DOID:2816 malignant oculomotor nerve tumor NCI:C6994 SNOMEDCT_US_2023_03_01:126969002 UMLS_CUI:C1263895 Oculomotor nerve tumor Oculomotor nerve tumour cranial nerve III tumour neoplasm of oculomotor nerve disease_ontology DOID:2817 cranial nerve III tumor A cholecystitis characterized by the absence of gallstones. DOID:2827 MESH:D042101 NCI:C35578 SNOMEDCT_US_2023_03_01:19968009 UMLS_CUI:C0267841 acute acalculous cholecystitis acute cholecystitis without calculus cholecystitis without calculus disease_ontology DOID:2828 acalculous cholecystitis MESH:D042101 A cholecystitis characterized by the absence of gallstones. url:https://pubmed.ncbi.nlm.nih.gov/30487697/ url:https://pubmed.ncbi.nlm.nih.gov/34657038/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/ NCI:C27310 UMLS_CUI:C0856815 disease_ontology DOID:2833 dehydration polycythemia ICD10CM:D75.1 ICD9CM:289.0 NCI:C27178 SNOMEDCT_US_2023_03_01:154835002 UMLS_CUI:C1318533 Polycythemia, secondary secondary polycythemia disease_ontology DOID:2834 acquired polycythemia NCI:C27312 UMLS_CUI:C0856818 disease_ontology DOID:2835 polycythemia due to hypoxia ICD10CM:D75.1 NCI:C27174 SNOMEDCT_US_2023_03_01:191371001 UMLS_CUI:C0541719 Gaisbock's syndrome Polycythemia, emotional disease_ontology DOID:2838 stress polycythemia ICD10CM:D75.1 NCI:C35434 SNOMEDCT_US_2023_03_01:367328005 UMLS_CUI:C0391869 Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin disease_ontology DOID:2839 erythropoietin polycythemia 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. DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 GARD:10246 ICD10CM:J45 ICD9CM:493 KEGG:05310 MESH:D001249 NCI:C28397 OMIM:600807 SNOMEDCT_US_2023_03_01:187687003 UMLS_CUI:C0004096 bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus disease_ontology DOID:2841 Xref MGI. asthma MESH:D001249 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. url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html url:https://www.ncbi.nlm.nih.gov/books/NBK430901/ url:https://www.ncbi.nlm.nih.gov/books/NBK7223/ GARD:3048 MESH:D029593 NCI:C84793 OMIM:220400 OMIM:612347 SNOMEDCT_US_2023_03_01:49518001 UMLS_CUI:C0022387 Jervell and Lange-Nielson syndrome disease_ontology DOID:2842 OMIM mapping confirmed by DO. [SN]. Jervell-Lange Nielsen 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:4069 GARD:6922 ICD10CM:I45.81 ICD9CM:426.82 MESH:D008133 NCI:C34786 OMIM:PS192500 ORDO:768 SNOMEDCT_US_2023_03_01:9651007 UMLS_CUI:C0023976 LQT long Q-T syndrome Romano-Ward syndrome disease_ontology DOID:2843 OMIM mapping confirmed by DO. [SN]. long QT syndrome ORDO:101016 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 A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. DOID:8891 ICD10CM:F45.8 ICD10CM:G47.63 ICD9CM:327.53 MESH:D002012 MESH:D020186 NCI:C73511 SNOMEDCT_US_2023_03_01:274950005 SNOMEDCT_US_2023_03_01:90207007 UMLS_CUI:C0006325 UMLS_CUI:C0393774 Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism disease_ontology DOID:2846 bruxism A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. url:http://en.wikipedia.org/wiki/Bruxism A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. GARD:6560 ICD10CM:C91.4 ICD9CM:202.4 ICDO:9940/3 MESH:D007943 NCI:C7402 SNOMEDCT_US_2023_03_01:118613001 UMLS_CUI:C0023443 disease_ontology DOID:285 hairy cell leukemia A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. url:https://en.wikipedia.org/wiki/Hairy_cell_leukemia url:https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956 url:https://www.ncbi.nlm.nih.gov/pubmed/30723113 A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. MESH:D006981 NCI:C131850 UMLS_CUI:C0020551 disease_ontology DOID:2855 hyperthyroxinemia MESH:D006981 A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. url:https://en.wikipedia.org/wiki/Hyperthyroxinemia ICD10CM:E07.81 ICD9CM:790.94 MESH:D005067 NCI:C113170 SNOMEDCT_US_2023_03_01:237542005 UMLS_CUI:C0015190 Sick-euthyroid syndrome disease_ontology DOID:2856 euthyroid sick syndrome GARD:2640 ICD10CM:D58.2 MESH:D006445 NCI:C34675 SNOMEDCT_US_2023_03_01:51053007 UMLS_CUI:C0019021 Hb-C disease disease_ontology DOID:2859 hemoglobin C disease GARD:12455 ICD10CM:D58.2 MESH:D006453 NCI:C3092 SNOMEDCT_US_2023_03_01:154794008 UMLS_CUI:C0019045 hemoglobinopathies disease_ontology DOID:2860 hemoglobinopathy A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). GARD:6520 MESH:D005955 NCI:C98933 SNOMEDCT_US_2023_03_01:124134002 UMLS_CUI:C2939465 Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD disease_ontology DOID:2862 glucosephosphate dehydrogenase deficiency A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency An endometrial carcinoma that derives_from epithelial cells of glandular origin. DOID:5827 DOID:6650 NCI:C6287 NCI:C6290 NCI:C7359 SNOMEDCT_US_2023_03_01:123845008 SNOMEDCT_US_2023_03_01:1260086007 UMLS_CUI:C0279763 UMLS_CUI:C1153706 UMLS_CUI:C1336905 adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium disease_ontology DOID:2870 endometrial adenocarcinoma An endometrial carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A endometrial cancer that is located_in the tissue lining the uterus. DOID:3000 MESH:D016889 MESH:D018269 NCI:C7558 SNOMEDCT_US_2023_03_01:30289006 SNOMEDCT_US_2023_03_01:93781006 UMLS_CUI:C0206687 UMLS_CUI:C0476089 carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system disease_ontology DOID:2871 OMIM mapping confirmed by DO. [SN]. endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus. url:http://www.cancer.gov/cancertopics/types/endometrial A laryngeal carcinoma that has_material_basis_in squamous cells. MESH:D000077195 NCI:C4044 SNOMEDCT_US_2023_03_01:707358000 UMLS_CUI:C0280324 Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx disease_ontology DOID:2876 laryngeal squamous cell carcinoma A laryngeal carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C6020 UMLS_CUI:C1334377 sarcoma of larynx disease_ontology DOID:2877 larynx sarcoma A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.sciencedirect.com/science/article/pii/S1726490109701893 A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. MESH:D011470 NCI:C4795 SNOMEDCT_US_2023_03_01:21173002 UMLS_CUI:C0520477 adenoma - prostate adenoma of prostate benign adenoma of prostate prostate adenoma disease_ontology DOID:2883 prostatic adenoma A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. url:https://pubmed.ncbi.nlm.nih.gov/33102081/ url:https://www.ncbi.nlm.nih.gov/pubmed/24649766 DOID:2886 NCI:C5532 NCI:C7574 UMLS_CUI:C1332535 UMLS_CUI:C1335409 Phyllodes neoplasm of the prostate benign Phyllodes neoplasm of the prostate benign prostate phyllodes tumour prostate phyllodes tumor prostate phyllodes tumour disease_ontology DOID:2885 benign prostate phyllodes tumor A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. NCI:C5544 UMLS_CUI:C1335510 Prostatic leiomyoma disease_ontology DOID:2887 prostate leiomyoma A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/ A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. EFO:0001065 ICD10CM:N80 ICD9CM:617 MESH:D004715 NCI:C3014 SNOMEDCT_US_2023_03_01:11871002 UMLS_CUI:C0014175 disease_ontology DOID:289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. url:https://en.wikipedia.org/?title=Endometriosis url:https://www.ncbi.nlm.nih.gov/pubmed/20574791 An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. MESH:D013964 NCI:C3502 SNOMEDCT_US_2023_03_01:189174004 UMLS_CUI:C0151468 adenoma of thyroid gland disease_ontology DOID:2891 thyroid adenoma An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma A cervix carcinoma that is located_in the exocervix. NCI:C7453 SNOMEDCT_US_2023_03_01:372100004 UMLS_CUI:C1299238 carcinoma of exocervix carcinoma of the Exocervix disease_ontology DOID:2892 exocervical carcinoma A cervix carcinoma that is located_in the exocervix. url:https://www.ncbi.nlm.nih.gov/pubmed/14675699 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. NCI:C9039 SNOMEDCT_US_2023_03_01:285432005 UMLS_CUI:C0302592 cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri disease_ontology DOID:2893 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Cervical_cancer 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. GARD:6540 ICD10CM:Q87.0 MESH:D006053 NCI:C84740 OMIM:164210 ORDO:374 SNOMEDCT_US_2023_03_01:46567003 UMLS_CUI:C0265240 Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis disease_ontology DOID:2907 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Goldenhar_syndrome url:http://www.healthline.com/galecontent/goldenhar-syndrome url:https://www.faces-cranio.org/goldenhar A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. GARD:9124 ICD10CM:Q75.4 MESH:D008342 NCI:C75018 OMIM:PS154500 SNOMEDCT_US_2023_03_01:205416009 UMLS_CUI:C0242387 Franceschetti syndrome mandibulofacial dysostosis disease_ontology DOID:2908 OMIM mapping confirmed by DO. [SN]. Treacher Collins syndrome MESH:D008342 A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK1532/ A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. DOID:2912 ICD10CM:K85 ICD9CM:577.0 MESH:D010195 NCI:C95437 SNOMEDCT_US_2023_03_01:39726008 UMLS_CUI:C0001339 disease_ontology DOID:2913 acute pancreatitis A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. url:https://www.nhs.uk/conditions/acute-pancreatitis/ A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. GARD:6217 ICD10CM:D89.1 MESH:D003449 NCI:C26736 SNOMEDCT_US_2023_03_01:30911005 UMLS_CUI:C0010403 Cryoimmunoglobulinaemia disease_ontology DOID:2917 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. url:http://en.wikipedia.org/wiki/Cryoglobulinemia url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm ls:IEDB NCI:C5102 SNOMEDCT_US_2023_03_01:416510003 UMLS_CUI:C1334361 lacrimal system neoplasm neoplasm of lacrimal system tumor of the lacrimal system disease_ontology DOID:292 lacrimal system cancer GARD:11982 MESH:D015432 NCI:C34644 OMIM:305800 SNOMEDCT_US_2023_03_01:80321008 UMLS_CUI:C0017662 Lobular glomerulonephritis chronic glomerulonephritis, lobular disease_ontology DOID:2920 membranoproliferative glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney. GARD:6516 ICD10CM:N08 MESH:D005921 NCI:C26784 SNOMEDCT_US_2023_03_01:36171008 UMLS_CUI:C0017658 disease_ontology DOID:2921 glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney. url:http://en.wikipedia.org/wiki/Glomerulonephritis sn:IEDB A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. ICD10CM:Q87.2 MESH:D007715 NCI:C84801 OMIM:149000 ORDO:90308 SNOMEDCT_US_2023_03_01:59078009 UMLS_CUI:C0022739 Haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome angioosteohypertrophy syndrome disease_ontology DOID:2926 OMIM mapping confirmed by DO. [SN]. Klippel-Trenaunay syndrome A syndrome that is 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 A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, 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. MESH:D009521 NCI:C34849 SNOMEDCT_US_2023_03_01:258300000 UMLS_CUI:C0027983 Newcastle's disease Pseudo-fowlpest disease_ontology DOID:2929 Newcastle disease A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, 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:https://en.wikipedia.org/wiki/Virulent_Newcastle_disease url:https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526237/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1822603/ NCI:C6129 UMLS_CUI:C1334358 carcinoma of the lacrimal gland disease_ontology DOID:293 lacrimal gland carcinoma A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. GARD:6035 ICD10CM:E70.330 MESH:D002609 NCI:C2941 OMIM:214500 ORDO:167 SNOMEDCT_US_2023_03_01:111396008 UMLS_CUI:C0007965 CHS Chediak - Steinbrinck anomaly disease_ontology DOID:2935 OMIM mapping confirmed by DO. [SN]. Chediak-Higashi syndrome A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25129365 A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. MESH:D020031 NCI:C38759 SNOMEDCT_US_2023_09_01:240530001 UMLS_CUI:C0149678 EBV Infection Epstein-Barr virus infection disease_ontology DOID:2938 Epstein-Barr virus infectious disease MESH:D020031 NCI:C38759 SNOMEDCT_US_2023_09_01:240530001 UMLS_CUI:C0149678 A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. url:https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection url:https://www.cdc.gov/epstein-barr/about-ebv.html url:https://www.ncbi.nlm.nih.gov/books/NBK559285/ DOID:291 ICD9CM:190.2 NCI:C3563 NCI:C4360 SNOMEDCT_US_2023_03_01:127004000 SNOMEDCT_US_2023_03_01:188271007 UMLS_CUI:C0153627 UMLS_CUI:C0339124 malignant neoplasm of lacrimal gland malignant tumour of lacrimal gland neoplasm of lacrimal gland tumor of the lacrimal gland disease_ontology DOID:294 lacrimal gland cancer 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. MESH:D001988 NCI:C39658 SNOMEDCT_US_2023_03_01:4120002 UMLS_CUI:C0006271 disease_ontology DOID:2942 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. url:http://en.wikipedia.org/wiki/Bronchiolitis A Coronavirus 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. GARD:9237 ICD10CM:J12.81 ICD9CM:079.82 MESH:D045169 NCI:C85064 SNOMEDCT_US_2023_03_01:398447004 UMLS_CUI:C1175175 SARS SARS-CoV infection disease_ontology DOID:2945 severe acute respiratory syndrome A Coronavirus 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 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. NCI:C6079 UMLS_CUI:C0848866 Ocular carcinoma disease_ontology carcinoma of eye DOID:295 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. url:http://www.cancer.gov/dictionary/?CdrID=444991 ICD10CM:T75.3 ICD9CM:994.6 MESH:D009041 NCI:C34824 OMIM:158280 SNOMEDCT_US_2023_03_01:37031009 UMLS_CUI:C0026603 Travel Sickness disease_ontology DOID:2951 OMIM mapping confirmed by DO. [SN]. motion sickness An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. ICD10CM:H83.9 MESH:D007759 NCI:C128369 NCI:C27166 SNOMEDCT_US_2023_03_01:194690003 SNOMEDCT_US_2023_03_01:20425006 UMLS_CUI:C0022890 UMLS_CUI:C0494559 labyrinthine disease disease_ontology DOID:2952 inner ear disease An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders 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. ICD10CM:A15 ICD9CM:011 MESH:D014397 NCI:C26899 SNOMEDCT_US_2023_03_01:81483001 UMLS_CUI:C0041327 disease_ontology DOID:2957 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. url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. NCI:C27579 UMLS_CUI:C1334069 disease_ontology DOID:2959 hyperimmunoglobulin syndrome A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. url:https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579 NCI:C6804 SNOMEDCT_US_2023_03_01:254989000 UMLS_CUI:C0346342 carcinoma Ex Pleomorphic adenoma of the lacrimal gland carcinoma ex pleomorphic adenoma of lacrimal gland malignant mixed neoplasm of lacrimal gland disease_ontology DOID:296 mixed lacrimal gland cancer A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. MESH:D054463 NCI:C4924 SNOMEDCT_US_2021_09_01:723551003 IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis disease_ontology DOID:2960 OMIM mapping confirmed by DO. [SN]. photosensitive trichothiodystrophy A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. GARD:6122 ICD10CM:Q87.19 MESH:D003057 NCI:C9460 ORDO:191 SNOMEDCT_US_2023_03_01:205832003 UMLS_CUI:C0009207 Neill-Dingwall syndrome disease_ontology Cockayne's syndrome DOID:2962 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cockayne syndrome MESH:D003057 A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. url:http://en.wikipedia.org/wiki/Cockayne_syndrome url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK1342/ ICD10CM:M71.9 MESH:D002062 NCI:C94407 SNOMEDCT_US_2023_03_01:156677003 UMLS_CUI:C0006444 disease_ontology DOID:2965 bursitis NCI:C4397 SNOMEDCT_US_2023_03_01:17264009 UMLS_CUI:C0344460 carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma disease_ontology DOID:297 pleomorphic adenoma carcinoma A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. DOID:2979 ICD10CM:E72.53 ICD10CM:R82.992 MESH:D006959 MESH:D006960 NCI:C123158 OMIM:PS259900 ORDO:416 SNOMEDCT_US_2023_03_01:190766003 SNOMEDCT_US_2023_03_01:367621000119107 UMLS_CUI:C0020500 UMLS_CUI:C0020501 disease_ontology DOID:2977 OMIM mapping confirmed by DO. [SN]. primary hyperoxaluria A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. url:https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria url:https://www.ncbi.nlm.nih.gov/pubmed/27815184 A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C4541 SNOMEDCT_US_2023_03_01:254988008 UMLS_CUI:C0346341 disease_ontology adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma MESH:D001002 NCI:C114699 SNOMEDCT_US_2023_03_01:139460001 UMLS_CUI:C0003460 Suppression of urinary secretion disease_ontology DOID:2983 anuria A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. EFO:0004194 GARD:863 MESH:D005922 NCI:C34643 OMIM:161950 SNOMEDCT_US_2023_03_01:236407003 UMLS_CUI:C0017661 Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis disease_ontology DOID:2986 OMIM mapping confirmed by DO. [SN]. IgA 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 An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. GARD:6421 ICD10CM:M04.1 ICD9CM:277.31 MESH:D010505 NCI:C84707 OMIM:134610 OMIM:249100 ORDO:342 SNOMEDCT_US_2023_03_01:12579009 UMLS_CUI:C0031069 FMF benign paroxysmal peritonitis disease_ontology DOID:2987 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial mediterranean fever An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in 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 An autoimmune 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). GARD:5824 ICD10CM:D68.61 MESH:D016736 NCI:C61283 OMIM:107320 SNOMEDCT_US_2023_03_01:201450008 UMLS_CUI:C0085278 APS antiphospholipid antibody syndrome disease_ontology DOID:2988 OMIM mapping confirmed by DO. [SN]. antiphospholipid syndrome MESH:D016736 An autoimmune 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). url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome url:https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome ls:IEDB A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. ICDO:8140/3 MESH:D000230 NCI:C2852 SNOMEDCT_US_2023_03_01:35917007 UMLS_CUI:C0001418 disease_ontology DOID:299 adenocarcinoma MESH:D000230 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 NCI:C5545 UMLS_CUI:C1335515 neuroendocrine tumor of the prostate disease_ontology DOID:2992 prostate neuroendocrine neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. DOID:2157 MESH:D009373 NCI:C3708 SNOMEDCT_US_2023_03_01:302853003 UMLS_CUI:C0205851 malignant tumor of the germ cell disease_ontology germ cell neoplasm germ cell tumour DOID:2994 germ cell cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. url:http://en.wikipedia.org/wiki/Germ_cell_tumor NCI:C5241 SNOMEDCT_US_2023_03_01:703601005 UMLS_CUI:C1321220 mixed germ cell-Sex Cord tumor mixed germ cell-sex cord-stromal tumor disease_ontology DOID:2996 mixed germ cell-sex cord neoplasm A male reproductive system cancer that is located_in the testicles. DOID:12231 DOID:5554 GARD:7746 ICD10CM:C62 ICD9CM:186 MESH:D013736 NCI:C3404 NCI:C5053 NCI:C7251 SNOMEDCT_US_2023_03_01:126900000 SNOMEDCT_US_2023_03_01:94087009 UMLS_CUI:C0039590 UMLS_CUI:C0153594 UMLS_CUI:C1333010 childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm disease_ontology DOID:2998 OMIM mapping confirmed by DO. [SN]. testicular cancer A male reproductive system cancer that is located_in the testicles. url:http://www.cancer.gov/dictionary?CdrID=445090 A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. DOID:5333 MESH:D006106 NCI:C3070 NCI:C4205 SNOMEDCT_US_2023_03_01:18861007 SNOMEDCT_US_2023_03_01:46585005 UMLS_CUI:C0018206 UMLS_CUI:C0334401 Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm disease_ontology DOID:2999 granulosa cell tumor A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. url:https://en.wikipedia.org/wiki/Granulosa_cell_tumour A female reproductive organ cancer that is characterized by a resemblance to endometrium. NCI:C7113 SNOMEDCT_US_2023_03_01:253013001 UMLS_CUI:C0474809 endometrioid neoplasm endometrioid tumor disease_ontology female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer A female reproductive organ cancer that is characterized by a resemblance to endometrium. url:https://en.wikipedia.org/wiki/Endometrioid_tumor An ovarian cancer that has_material_basis_in nuroendocrine cells. NCI:C5237 UMLS_CUI:C1335172 neuroendocrine tumor of Ovary disease_ontology DOID:3002 ovary neuroendocrine neoplasm An ovarian cancer that has_material_basis_in nuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pubmed/26976990 A breast benign neoplasm that is located_in the nipple. NCI:C5212 UMLS_CUI:C1112166 tumor of Nipple disease_ontology DOID:3003 nipple benign neoplasm A breast benign neoplasm that is located_in the nipple. url:https://en.wikipedia.org/wiki/Nipple_adenoma A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. NCI:C40389 UMLS_CUI:C1511319 disease_ontology DOID:3004 breast myoepithelial neoplasm A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/ A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. DOID:3005 MESH:D018270 NCI:C4017 NCI:C4194 SNOMEDCT_US_2023_03_01:408643008 UMLS_CUI:C1134719 UMLS_CUI:C1527349 Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma disease_ontology DOID:3008 invasive ductal carcinoma A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/25343550 A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. NCI:C5169 UMLS_CUI:C1332635 neuroendocrine tumor of the breast disease_ontology DOID:3009 breast neuroendocrine neoplasm A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. NCI:C27939 UMLS_CUI:C0861352 Lobular Intraepithelial Neoplasia lobular carcinoma in situ disease_ontology DOID:3010 lobular neoplasia A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia A breast cancer that is believed to arises_from Schwann cells. NCI:C40400 UMLS_CUI:C1511312 disease_ontology DOID:3011 breast granular cell tumor A breast cancer that is believed to arises_from Schwann cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. GARD:6902 MESH:D016864 NCI:C3476 OMIM:PS151623 ORDO:524 SNOMEDCT_US_2023_03_01:428850001 UMLS_CUI:C0085390 LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome disease_ontology DOID:3012 Xref MGI. OMIM mapping confirmed by DO. [SN]. Li-Fraumeni syndrome A syndrome characterized by autosomal dominant inheritance of increased 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 url:https://www.lfsassociation.org/what-is-lfs/ A breast benign neoplasm that is located_in the breast ducts. NCI:C36083 UMLS_CUI:C0948967 disease_ontology DOID:3013 intraductal breast benign neoplasm A breast benign neoplasm that is located_in the breast ducts. url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/23025963 A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). DOID:1632 DOID:3018 MESH:D003557 NCI:C4275 NCI:C4504 NCI:C7575 SNOMEDCT_US_2023_03_01:254844000 SNOMEDCT_US_2023_03_01:712989008 SNOMEDCT_US_2023_03_01:87913009 UMLS_CUI:C0238031 UMLS_CUI:C0346154 UMLS_CUI:C0600066 Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour disease_ontology DOID:3016 breast malignant phyllodes tumor A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). url:https://www.sciencedirect.com/science/article/pii/S2214330016300256 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. NCI:C4670 SNOMEDCT_US_2023_03_01:278050001 UMLS_CUI:C0349667 sarcoma of breast disease_ontology DOID:3017 breast sarcoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. url:http://en.wikipedia.org/wiki/Sarcoma A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. MESH:D019966 NCI:C16522 SNOMEDCT_US_2023_03_01:26416006 UMLS_CUI:C0013146 disease_ontology DOID:302 substance abuse 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 NCI:C5596 UMLS_CUI:C1332139 disease_ontology DOID:3024 prostatic acinar adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. GARD:8568 ICDO:8550/3 MESH:D018267 NCI:C3768 SNOMEDCT_US_2023_03_01:45410002 UMLS_CUI:C0206685 acinic cell carcinoma disease_ontology DOID:3025 acinar cell carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. url:https://pubmed.ncbi.nlm.nih.gov/15215543/ NCI:C7966 UMLS_CUI:C0279639 Colonic mucinous adenocarcinoma disease_ontology DOID:3029 colon mucinous adenocarcinoma 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. MESH:D019966 NCI:C92203 UMLS_CUI:C0236969 disease_ontology DOID:303 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. url:https://www.psychologytoday.com/us/conditions/substance-related-disorders An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. DOID:4532 ICDO:8480/3 MESH:D002288 NCI:C26712 NCI:C27379 SNOMEDCT_US_2023_03_01:72495009 SNOMEDCT_US_2023_03_01:900006 UMLS_CUI:C0007130 UMLS_CUI:C0334368 Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma disease_ontology DOID:3030 mucinous adenocarcinoma 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 NCI:C38760 UMLS_CUI:C1515024 disease_ontology DOID:3038 submucosal invasive colon adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. NCI:C5543 SNOMEDCT_US_2023_03_01:413446001 UMLS_CUI:C1332866 Cecal adenocarcinoma disease_ontology DOID:3039 cecum adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A contact dermatitis 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. ICD10CM:L23 MESH:D017449 NCI:C26998 SNOMEDCT_US_2023_03_01:200841005 UMLS_CUI:C0162820 disease_ontology DOID:3042 allergic contact dermatitis A contact dermatitis 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. url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis ls:IEDB A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. MESH:D005512 NCI:C172304 SNOMEDCT_US_2023_03_01:213018006 UMLS_CUI:C0016470 food hypersensitivity disease_ontology DOID:3044 food allergy 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 A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. ICD10CM:M30.1 MESH:D015267 NCI:C34481 SNOMEDCT_US_2023_03_01:82275008 UMLS_CUI:C0008728 Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis disease_ontology DOID:3049 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. url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2428 DOID:6570 ICDO:8010/3 MESH:D002277 MESH:D009375 NCI:C2916 NCI:C3709 SNOMEDCT_US_2023_03_01:188083002 SNOMEDCT_US_2023_03_01:269513004 SNOMEDCT_US_2023_03_01:71298006 UMLS_CUI:C0007097 UMLS_CUI:C0553707 UMLS_CUI:C1368683 epithelial cancer epithelioma malignant Epithelioma disease_ontology DOID:305 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma 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 ICD10CM:A01.1 ICD10CM:A01.2 ICD10CM:A01.3 ICD10CM:A01.4 ICD9CM:002.1 ICD9CM:002.2 ICD9CM:002.3 ICD9CM:002.9 MESH:D010284 NCI:C34894 NCI:C34895 NCI:C34896 NCI:C34897 SNOMEDCT_US_2023_03_01:51254007 SNOMEDCT_US_2023_03_01:71085009 SNOMEDCT_US_2023_03_01:76623002 SNOMEDCT_US_2023_03_01:85904008 UMLS_CUI:C0030528 UMLS_CUI:C0343375 UMLS_CUI:C0343376 UMLS_CUI:C0343377 Paratyphoid Paratyphoid A fever Paratyphoid B fever Paratyphoid C fever Paratyphoid fever A Paratyphoid fever B Paratyphoid fever C paratyphoid a paratyphoid b paratyphoid c disease_ontology DOID:3055 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. url:http://en.wikipedia.org/wiki/Paratyphoid_fever A malignant 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 derives_from multiple cell types including astrocytes and oligondroctyes. DOID:3075 DOID:3080 GARD:2491 ICDO:9440/3 MESH:D005909 NCI:C129295 NCI:C39750 NCI:C9094 SNOMEDCT_US_2023_03_01:63634009 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme disease_ontology DOID:3068 glioblastoma A malignant 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 derives_from multiple cell types including astrocytes and oligondroctyes. url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. DOID:4861 ICDO:9400/3 MESH:D001254 NCI:C4951 NCI:C60781 SNOMEDCT_US_2023_03_01:189914005 SNOMEDCT_US_2023_03_01:99131000119108 UMLS_CUI:C0004114 UMLS_CUI:C0750935 Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma disease_ontology DOID:3069 malignant astrocytoma MESH:D001254 A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. 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 A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. DOID:2627 ICDO:9380/3 KEGG:05214 MESH:D005910 NCI:C3059 NCI:C4822 OMIM:PS137800 ORDO:182067 SNOMEDCT_US_2023_03_01:393564001 SNOMEDCT_US_2023_03_01:74532006 UMLS_CUI:C0017638 UMLS_CUI:C0555198 Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma disease_ontology DOID:3070 Xref MGI. OMIM mapping confirmed by DO. [SN]. high grade glioma 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 A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. GARD:5653 ICDO:9442/3 MESH:D018316 NCI:C3796 SNOMEDCT_US_2023_03_01:35262004 UMLS_CUI:C0206726 Glioblastoma with sarcomatous component disease_ontology DOID:3071 gliosarcoma A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. url:https://en.wikipedia.org/wiki/Gliosarcoma url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. NCI:C4642 SNOMEDCT_US_2023_03_01:276828006 UMLS_CUI:C0349543 Glioblastoma multiforme of brain brain Glioblastoma disease_ontology DOID:3073 brain glioblastoma multiforme A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. url:https://en.wikipedia.org/wiki/Glioblastoma A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. ICDO:9441/3 MESH:D005909 NCI:C4325 SNOMEDCT_US_2023_03_01:44529004 UMLS_CUI:C0334588 Monstrocellular sarcoma disease_ontology DOID:3074 giant cell glioblastoma A glioblastoma 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 A malignant astrocytoma that occurs during adulthood. NCI:C7049 UMLS_CUI:C1332183 adult astrocytic tumour adult astrocytoma disease_ontology DOID:3076 adult astrocytic tumor A malignant astrocytoma that occurs during adulthood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049 A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. GARD:5860 MESH:D001254 NCI:C9477 SNOMEDCT_US_2023_03_01:55353007 UMLS_CUI:C0334579 grade III Astrocytic tumor grade III astrocytoma disease_ontology DOID:3078 anaplastic astrocytoma A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=45591 NCI:C9022 SNOMEDCT_US_2023_03_01:128854008 UMLS_CUI:C1321865 juvenile astrocytoma pediatric astrocytoma disease_ontology DOID:3079 childhood astrocytic tumor GARD:6234 ICDO:9173/0 MESH:D018191 NCI:C3724 OMIM:257350 SNOMEDCT_US_2023_03_01:40225001 UMLS_CUI:C0206620 cystic Hygroma disease_ontology DOID:3081 cystic lymphangioma A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. GARD:13336 ICD10CM:J84.9 MESH:D017563 NCI:C164315 SNOMEDCT_US_2023_03_01:64667001 UMLS_CUI:C0206062 ILD disease_ontology DOID:3082 interstitial lung disease A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/ An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 SNOMEDCT_US_2023_03_01:13645005 UMLS_CUI:C0024117 COLD COPD chronic obstructive airway disease chronic obstructive lung disease disease_ontology DOID:3083 chronic obstructive pulmonary disease An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. url:https://pubmed.ncbi.nlm.nih.gov/28513453/ url:https://pubmed.ncbi.nlm.nih.gov/32745458/ url:https://pubmed.ncbi.nlm.nih.gov/32800196/ url:https://www.nhlbi.nih.gov/health-topics/copd DOID:10422 DOID:10424 ICD10CM:K05.0 ICD10CM:K05.1 ICD10CM:K05.10 ICD9CM:523.0 ICD9CM:523.1 MESH:D005891 NCI:C34474 NCI:C34636 SNOMEDCT_US_2023_03_01:155643004 SNOMEDCT_US_2023_03_01:196355002 SNOMEDCT_US_2023_03_01:266490003 UMLS_CUI:C0008684 UMLS_CUI:C0017574 UMLS_CUI:C0155937 acute gingivitis chronic gingivitis disease_ontology DOID:3087 gingivitis NCI:C27162 SNOMEDCT_US_2023_03_01:50390006 UMLS_CUI:C0436545 Non-Specific Granulomatous Orchitis disease_ontology DOID:3089 granulomatous orchitis An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. DOID:1193 DOID:3195 DOID:4695 ICD9CM:192.9 MESH:D009380 NCI:C35562 SNOMEDCT_US_2023_03_01:188306000 UMLS_CUI:C0027665 UMLS_CUI:C0153643 UMLS_CUI:C1334956 malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system disease_ontology DOID:3093 nervous system cancer An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system_disease A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. ICDO:8803/3 MESH:D018228 NCI:C3746 SNOMEDCT_US_2023_03_01:73506006 UMLS_CUI:C0206652 disease_ontology DOID:3098 small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ ICD10CM:E88.42 MESH:D017243 NCI:C84889 OMIM:545000 SNOMEDCT_US_2023_03_01:68448003 UMLS_CUI:C0162672 Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers disease_ontology DOID:310 OMIM mapping confirmed by DO. [SN]. MERRF 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. GARD:7759 ICD10CM:G54.0 MESH:D013901 NCI:C85188 SNOMEDCT_US_2023_03_01:2040007 UMLS_CUI:C0039984 TOS - Thoracic outlet syndrome disease_ontology DOID:3103 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. url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. MESH:D018344 NCI:C84780 UMLS_CUI:C0206744 disease_ontology DOID:3109 idiopathic CD4-positive T-lymphocytopenia A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. GARD:10162 ICDO:8450/3 MESH:D018283 NCI:C3777 SNOMEDCT_US_2023_03_01:2735009 UMLS_CUI:C0206700 disease_ontology DOID:3110 papillary cystadenocarcinoma 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 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. ICDO:8440/3 MESH:D003536 NCI:C2971 SNOMEDCT_US_2023_03_01:21008007 UMLS_CUI:C0010631 disease_ontology DOID:3111 cystadenocarcinoma 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 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:5596 ICDO:8260/3 MESH:D000231 NCI:C2853 SNOMEDCT_US_2023_03_01:4797003 UMLS_CUI:C0001420 Infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma disease_ontology DOID:3112 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 A carcinoma that is derives_from epithelial cells with finger like projections. ICDO:8050/3 MESH:D002291 NCI:C2927 SNOMEDCT_US_2023_03_01:25910003 UMLS_CUI:C0007133 disease_ontology DOID:3113 papillary carcinoma A carcinoma that is derives_from epithelial cells with finger like projections. url:http://breastcancer.about.com/od/types/p/papillary_ca.htm A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. MESH:D018284 NCI:C3778 SNOMEDCT_US_2023_03_01:90725004 UMLS_CUI:C0206701 serous adenocarcinoma serous carcinoma disease_ontology DOID:3114 serous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:http://ukpmc.ac.uk/abstract/MED/16025006 NCI:C7514 UMLS_CUI:C1334323 renal and ureteral tumor disease_ontology DOID:3116 kidney benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. NCI:C8614 UMLS_CUI:C0854196 hepatobiliary tumors disease_ontology DOID:3117 hepatobiliary benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. url:http://en.wikipedia.org/wiki/Hepatobiliary_system A gastrointestinal system disease that is located_in the liver and/or biliary tract. MESH:D004066 NCI:C3959 UMLS_CUI:C0267792 liver and biliary tract disease disease_ontology DOID:3118 hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract. url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:4945 DOID:8377 ICD10CM:C26.9 ICD9CM:239.0 MESH:D004067 MESH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2023_03_01:128348002 SNOMEDCT_US_2023_03_01:276806006 SNOMEDCT_US_2023_03_01:428905002 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 GI tumor digestive system cancer gastrointestinal tract cancer disease_ontology DOID:3119 gastrointestinal system cancer 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 A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. NCI:C7130 UMLS_CUI:C1333754 disease_ontology DOID:3120 gallbladder papillomatosis A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. url:https://pubmed.ncbi.nlm.nih.gov/25351203/ A biliary tract cancer that is located_in the gallbladder. DOID:8090 DOID:8157 GARD:9328 ICD10CM:C23 ICD9CM:156.0 MESH:D005706 NCI:C3048 NCI:C35676 NCI:C7481 SNOMEDCT_US_2023_03_01:126854002 SNOMEDCT_US_2023_03_01:93810008 UMLS_CUI:C0016978 UMLS_CUI:C0153452 UMLS_CUI:C0278806 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 disease_ontology DOID:3121 gallbladder cancer A biliary tract cancer that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder 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. ICD10CM:K62.89 MESH:D011349 NCI:C38011 SNOMEDCT_US_2023_03_01:266534007 UMLS_CUI:C0033246 ulcerative proctitis disease_ontology DOID:3127 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. url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 A rectal disease located_in the anus. DOID:11479 DOID:11993 MESH:D001004 NCI:C26695 SNOMEDCT_US_2023_03_01:32110003 UMLS_CUI:C0003462 Nontraumatic tear of anus Solitary anal ulcer Ulcer of anus anal disease anal fissure anal fissure and fistula anal ulcer fissure in ano disease_ontology DOID:3128 anus disease A rectal disease located_in the anus. url:https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. GARD:7433 ICD10CM:E80.1 MESH:D017119 NCI:C27725 OMIM:176090 OMIM:176100 ORDO:101330 SNOMEDCT_US_2023_03_01:61860000 UMLS_CUI:C0162566 disease_ontology DOID:3132 Xref MGI. OMIM mapping confirmed by DO. [SN]. porphyria cutanea tarda 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 A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. GARD:8603 ICD10CM:L83 MESH:D000052 NCI:C26687 OMIM:100600 OMIM:200170 SNOMEDCT_US_2023_03_01:72129000 UMLS_CUI:C0000889 keratosis nigricans disease_ontology DOID:3138 OMIM mapping confirmed by DO. [SN]. acanthosis nigricans MESH:D000052 A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. url:https://pubmed.ncbi.nlm.nih.gov/32516476/ url:https://www.ncbi.nlm.nih.gov/books/NBK431057/ ICD9CM:727.02 ICDO:9252/0 MESH:D000070779 NCI:C3402 SNOMEDCT_US_2023_03_01:310605004 UMLS_CUI:C1318543 Giant cell tumor of Tenosynovium Giant cell tumor of tendon sheath Giant cell tumour of Tenosynovium Giant cell tumour of tendon sheath fibrous histiocytoma of tendon sheath tenosynovial giant cell tumour disease_ontology DOID:314 tenosynovial giant cell tumor A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. GARD:5975 MESH:D012592 NCI:C85057 SNOMEDCT_US_2023_03_01:72967001 UMLS_CUI:C0036413 Buschke's scleredema disease_ontology DOID:3140 scleredema adultorum A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. url:https://www.ncbi.nlm.nih.gov/pubmed/30128796 A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. GARD:6227 ICD10CM:Q82.8 MESH:D003483 NCI:C84663 OMIM:PS123700 ORDO:209 SNOMEDCT_US_2023_03_01:238825007 UMLS_CUI:C0010495 loose skin disease_ontology DOID:3144 Xref MGI. cutis laxa A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. 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 A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. MESH:D006952 NCI:C34710 OMIM:617347 SNOMEDCT_US_2023_03_01:42569002 UMLS_CUI:C0020479 Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia disease_ontology DOID:3145 hyperlipoproteinemia type III A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. url:https://omim.org/entry/617347 MESH:D007636 NCI:C3146 SNOMEDCT_US_2023_03_01:201061007 UMLS_CUI:C0022572 disease_ontology DOID:3149 keratoacanthoma NCI:C8964 SNOMEDCT_US_2023_03_01:189829008 UMLS_CUI:C0476203 Synovial neoplasm tumor of Synovium disease_ontology DOID:315 synovium neoplasm A skin carcinoma that has_material_basis_in squamous cells. NCI:C4819 SNOMEDCT_US_2023_03_01:254651007 UMLS_CUI:C0553723 Epidermoid skin carcinoma disease_ontology squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma A skin carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). MESH:D010859 NCI:C7582 OMIM:300337 SNOMEDCT_US_2023_03_01:367520004 UMLS_CUI:C0022283 Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito disease_ontology DOID:3156 hypomelanosis of Ito A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). url:https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/ A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C4237 SNOMEDCT_US_2023_03_01:68827007 UMLS_CUI:C0334444 Spitzoid malignant melanoma spindle cell malignant melanoma spindle cell melanoma disease_ontology desmoplastic melanoma DOID:3162 malignant spindle cell melanoma A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/ MESH:D012878 NCI:C3372 SNOMEDCT_US_2023_03_01:126488004 UMLS_CUI:C0037286 neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin disease_ontology DOID:3165 skin benign neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. MESH:D018307 NCI:C3792 SNOMEDCT_US_2023_03_01:118286007 UMLS_CUI:C0206720 Epidermoid cell tumor squamous cell tumor disease_ontology DOID:3168 squamous cell neoplasm 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 ICDO:8260/0 MESH:D000236 NCI:C79951 SNOMEDCT_US_2023_03_01:86143001 UMLS_CUI:C0205650 glandular papilloma disease_ontology DOID:3172 papillary adenoma A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. NCI:C40112 UMLS_CUI:C1517123 disease_ontology DOID:3173 fallopian tube serous papilloma A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. url:https://en.wikipedia.org/wiki/Papilloma url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous ICDO:8051/0 NCI:C4101 SNOMEDCT_US_2023_03_01:48218007 UMLS_CUI:C0334243 disease_ontology DOID:3177 verrucous papilloma A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. NCI:C4614 SNOMEDCT_US_2023_03_01:189051001 UMLS_CUI:C0347390 cutaneous papilloma papilloma of skin disease_ontology DOID:3178 skin papilloma A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. url:https://www.ncbi.nlm.nih.gov/books/NBK560737/ MESH:D018308 NCI:C3793 SNOMEDCT_US_2023_03_01:104081000119103 UMLS_CUI:C0206721 Inverted papilloma, squamous cell disease_ontology DOID:3179 inverted papilloma ICD9CM:335.21 MESH:D009134 NCI:C85027 SNOMEDCT_US_2023_03_01:88923002 UMLS_CUI:C0917981 Pure progressive muscular atrophy progressive spinal muscular atrophy disease_ontology DOID:318 progressive muscular atrophy DOID:3182 GARD:9953 ICDO:9450/3 MESH:D009837 NCI:C3288 UMLS_CUI:C0751396 oligodendroglial neoplasm oligodendroglial tumor disease_ontology DOID:3181 oligodendroglioma MESH:D009837 MESH:D009837 NCI:C4045 UMLS_CUI:C0280475 pediatric Oligodendroglioma disease_ontology DOID:3183 childhood oligodendroglioma NCI:C4535 SNOMEDCT_US_2023_03_01:254950006 UMLS_CUI:C0346295 Oligodendroglioma of spinal cord Well differentiated Spinal Cord Oligodendroglioma disease_ontology DOID:3184 spinal cord oligodendroglioma A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. NCI:C4534 SNOMEDCT_US_2023_03_01:254946004 UMLS_CUI:C2937245 Glial neoplasm Spinal Cord Glial tumor of spinal cord glioma of spinal cord disease_ontology DOID:3185 spinal cord glioma 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 DOID:7355 MESH:D009837 NCI:C4014 NCI:C9376 UMLS_CUI:C0279070 UMLS_CUI:C1332190 adult brain oligodendroglioma grade II adult Oligodendroglial tumor disease_ontology DOID:3186 adult oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. NCI:C9377 SNOMEDCT_US_2023_03_01:254940005 UMLS_CUI:C0346286 Oligodendroglioma of brain disease_ontology DOID:3187 brain oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. url:http://www.cancer.gov/dictionary?CdrID=46257 ICD10CM:G95.9 ICD9CM:336.9 MESH:D013118 NCI:C97110 SNOMEDCT_US_2023_03_01:48522003 UMLS_CUI:C0037928 disease_ontology myelopathy DOID:319 spinal cord disease A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. DOID:955 ICDO:9560/3 MESH:D009442 NCI:C3269 SNOMEDCT_US_2023_03_01:985004 UMLS_CUI:C0027809 Psammomatous schwannoma schwannoma disease_ontology DOID:3192 neurilemmoma A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. url:https://en.wikipedia.org/wiki/Schwannoma A neurilemmoma with a predominantly cellular growth but no Verocay bodies. NCI:C4724 SNOMEDCT_US_2023_03_01:253086004 UMLS_CUI:C0431124 cellular Neurinoma disease_ontology DOID:3196 cellular schwannoma A neurilemmoma with a predominantly cellular growth but no Verocay bodies. url:https://www.ncbi.nlm.nih.gov/pubmed/2400975 A neurilemmoma that is located_in the 12th cranial nerve. NCI:C5434 UMLS_CUI:C1335928 Hypoglossal Schwannoma disease_ontology DOID:3197 schwannoma of twelfth cranial nerve A neurilemmoma that is located_in the 12th cranial nerve. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/ NCI:C5830 SNOMEDCT_US_2023_03_01:126978008 UMLS_CUI:C1263903 neoplasm of hypoglossal nerve tumor of Hypoglossal nerve disease_ontology DOID:3198 hypoglossal nerve neoplasm NCI:C5413 UMLS_CUI:C1332905 Cerebellopontine Angle Neurinoma disease_ontology DOID:3199 C-P angle neurinoma A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. NCI:C5414 cerebellopontine angle tumour neoplasm of the Cerebellopontine Angle disease_ontology DOID:3200 cerebellopontine angle tumor A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. url:https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome NCI:C5421 UMLS_CUI:C1336543 disease_ontology DOID:3201 sympathetic neurilemmoma NCI:C4655 SNOMEDCT_US_2023_03_01:277185000 UMLS_CUI:C0349582 Trigeminal Neurilemmoma Trigeminal schwannoma disease_ontology DOID:3202 neurilemmoma of the fifth cranial nerve NCI:C5321 UMLS_CUI:C4054526 disease_ontology DOID:3203 macrocystic neurilemmoma A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. ICD10CM:Q85.03 ICD9CM:237.73 ICDO:9560/1 MESH:C536641 NCI:C6557 OMIM:PS162091 ORDO:93921 SNOMEDCT_US_2023_03_01:781641005 UMLS_CUI:C1335929 SWN neurilemmomatosis neurinomatosis disease_ontology DOID:3204 schwannomatosis ORDO:634518 ICD10CM:Q85.03 ICD9CM:237.73 ICDO:9560/1 MESH:C536641 NCI:C6557 OMIM:PS162091 ORDO:93921 SNOMEDCT_US_2023_03_01:781641005 UMLS_CUI:C1335929 ORDO:634492 A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. url:https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html url:https://pubmed.ncbi.nlm.nih.gov/35674741/ NCI:C6970 SNOMEDCT_US_2023_03_01:253088003 UMLS_CUI:C1306247 Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma disease_ontology DOID:3205 melanotic neurilemmoma NCI:C6969 SNOMEDCT_US_2023_03_01:404025004 UMLS_CUI:C1370659 Plexiform Neurinoma Plexiform neurilemmoma disease_ontology DOID:3206 plexiform schwannoma An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. GARD:2152 MESH:D016109 NCI:C90598 SNOMEDCT_US_2023_03_01:76905008 UMLS_CUI:C0079301 congenital junctional epidermolysis bullosa disease_ontology DOID:3209 Xref MGI. junctional epidermolysis bullosa An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. url:https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes 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. ICD10CM:G04.1 MESH:D015493 NCI:C179058 OMIM:159580 SNOMEDCT_US_2023_03_01:45129002 UMLS_CUI:C0030481 HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia disease_ontology DOID:321 OMIM mapping confirmed by DO. [LS]. 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. url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis url:http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. GARD:4265 MESH:D020371 NCI:C75487 OMIM:312080 ORDO:702 SNOMEDCT_US_2023_03_01:64855000 UMLS_CUI:C0205711 HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type disease_ontology DOID:3210 Pelizaeus-Merzbacher disease A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. url:https://www.ncbi.nlm.nih.gov/books/NBK560522/ url:https://www.ncbi.nlm.nih.gov/pubmed/15627202 url:https://www.ncbi.nlm.nih.gov/pubmed/2773936 url:https://www.ncbi.nlm.nih.gov/pubmed/3476455 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. MESH:D016464 NCI:C61250 SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078 disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disease_ontology DOID:3211 lysosomal storage disease 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 A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. MESH:D003711 NCI:C34527 UMLS_CUI:C0011303 demyelinating disorder disease_ontology DOID:3213 demyelinating disease A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. url:https://www.ncbi.nlm.nih.gov/pubmed/17071802 NCI:C5787 UMLS_CUI:C1334297 Somatosatinoma of Jejunum jejunal delta cell somatostatin producing tumor disease_ontology DOID:3216 jejunal somatostatinoma MESH:D007580 NCI:C8401 SNOMEDCT_US_2023_03_01:254575004 UMLS_CUI:C0022374 Jejunal tumor neoplasm of jejunum tumor of jejunum disease_ontology DOID:3218 jejunal neoplasm A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. GARD:7130 MESH:D009187 NCI:C26832 SNOMEDCT_US_2023_03_01:192682002 UMLS_CUI:C0026975 disease_ontology DOID:322 myelitis A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. url:https://en.wikipedia.org/wiki/Myelitis MESH:D002422 NCI:C121572 SNOMEDCT_US_2023_03_01:247397004 UMLS_CUI:C0007462 Complex regional pain syndrome, type II disease_ontology DOID:3222 causalgia ICD10CM:S12.8 MESH:D014133 NCI:C35079 SNOMEDCT_US_2023_03_01:47125007 UMLS_CUI:C0040580 disease_ontology DOID:3225 tracheal disease MESH:D014135 NCI:C78646 SNOMEDCT_US_2023_03_01:11296007 UMLS_CUI:C0040583 Stenosis of trachea disease_ontology DOID:3227 tracheal stenosis MESH:D014135 A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. DOID:3233 ICD9CM:200.5 NCI:C9301 SNOMEDCT_US_2023_03_01:69110006 UMLS_CUI:C0280803 Microglioma primary CNS lymphoma disease_ontology DOID:3234 central nervous system lymphoma A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. url:https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma 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. GARD:4702 ICDO:8910/3 MESH:D018233 NCI:C8971 OMIM:268210 ORDO:99757 SNOMEDCT_US_2023_03_01:404051002 UMLS_CUI:C0206656 disease_ontology DOID:3246 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 A skeletal muscle cancer that arise from skeletal muscle progenitors. ICDO:8900/3 MESH:D012208 NCI:C3359 SNOMEDCT_US_2023_03_01:302847003 UMLS_CUI:C0035412 disease_ontology DOID:3247 rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425116/ ICDO:8901/3 NCI:C4258 SNOMEDCT_US_2023_03_01:404054005 UMLS_CUI:C0334480 Pleomorphic rhabdomyosarcoma, adult type anaplastic Rhabdomyosarcoma disease_ontology DOID:3250 pleomorphic rhabdomyosarcoma A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. NCI:C5525 UMLS_CUI:C1335508 Embryonal Rhabdomyosarcoma of the prostate disease_ontology DOID:3251 prostate embryonal rhabdomyosarcoma A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/ A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5522 UMLS_CUI:C1335518 Rhabdomyosarcoma of the prostate disease_ontology DOID:3252 prostate rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pubmed/26776454 url:https://www.ncbi.nlm.nih.gov/pubmed/29468476 NCI:C5847 UMLS_CUI:C1333505 disease_ontology DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. NCI:C5860 UMLS_CUI:C2064434 rhabdomyosarcoma of the bile duct disease_ontology DOID:3254 bile duct rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma NCI:C9150 SNOMEDCT_US_2023_03_01:14269005 UMLS_CUI:C1306573 Botryoid sarcoma Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides disease_ontology DOID:3255 botryoid rhabdomyosarcoma An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. NCI:C6246 UMLS_CUI:C1335127 Embryonal Rhabdomyosarcoma of the orbit disease_ontology DOID:3258 orbit embryonal rhabdomyosarcoma An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. MESH:C537605 NCI:C4543 SNOMEDCT_US_2023_03_01:254994000 UMLS_CUI:C0346347 Rhabdomyosarcoma of orbit Rhabdomyosarcoma of the orbit disease_ontology DOID:3259 orbit rhabdomyosarcoma An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. url:https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma url:https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ A vascular disease that is characterized by a restriction in blood supply to tissues. MESH:D007511 NCI:C34738 SNOMEDCT_US_2023_03_01:52674009 UMLS_CUI:C0022116 disease_ontology DOID:326 ischemia A vascular disease that is characterized by a restriction in blood supply to tissues. url:http://en.wikipedia.org/wiki/Ischemia A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. ICDO:8912/3 NCI:C6519 SNOMEDCT_US_2023_03_01:404055006 UMLS_CUI:C1266134 Sclerosing rhabdomyosarcoma Spindle Cell/Sclerosing Rhabdomyosarcoma Synonym Rhabdomyosarcoma, spindle cell/sclerosing type disease_ontology DOID:3260 spindle cell rhabdomyosarcoma A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. url:https://pubmed.ncbi.nlm.nih.gov/34958505/ A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. GARD:6800 MESH:D007589 NCI:C126342 NCI:C126343 OMIM:147060 ORDO:2314 UMLS_CUI:C1968689 UMLS_CUI:C2936739 Job syndrome Job's syndrome hyperimmunoglobulin E syndrome disease_ontology DOID:3261 OMIM mapping confirmed by DO. [SN]. hyper IgE recurrent infection syndrome 1 A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. url:https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. GARD:4344 ICD10CM:E70.39 MESH:D016116 NCI:C85009 OMIM:172800 ORDO:2884 SNOMEDCT_US_2023_03_01:718122005 UMLS_CUI:C0080024 PIEBALD TRAIT Partial albinism disease_ontology DOID:3263 This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). piebaldism An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. url:https://pubmed.ncbi.nlm.nih.gov/32975012/ url:https://www.ncbi.nlm.nih.gov/pubmed/15485525 url:https://www.ncbi.nlm.nih.gov/pubmed/1717985 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, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. GARD:6100 ICD10CM:D71 MESH:D006105 NCI:C26788 OMIM:PS306400 ORDO:379 SNOMEDCT_US_2023_03_01:11210002 UMLS_CUI:C0018203 Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome disease_ontology DOID:3265 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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, liver, lymph nodes, 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:https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ url:https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/ url:https://www.ncbi.nlm.nih.gov/books/NBK99496/ An ovarian cystadenoma that is characterized by the presence of mucin. NCI:C4512 SNOMEDCT_US_2023_03_01:119422004 UMLS_CUI:C0346172 Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary disease_ontology DOID:3267 mucinous ovarian cystadenoma An ovarian cystadenoma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/22476372 An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. NCI:C4060 SNOMEDCT_US_2023_03_01:198297004 UMLS_CUI:C0346169 Cystoma Serosum simplex simple cystoma of ovary simple cystoma of the ovary disease_ontology DOID:3269 ovarian cystadenoma An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. url:https://www.ncbi.nlm.nih.gov/pubmed/27244785 GARD:7725 MESH:D013595 NCI:C85179 OMIM:186700 ORDO:3280 SNOMEDCT_US_2023_03_01:155020007 UMLS_CUI:C0039144 disease_ontology DOID:327 syringomyelia A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. DOID:8101 DOID:8112 NCI:C8365 SNOMEDCT_US_2023_03_01:35813005 UMLS_CUI:C0334056 Fibrocystic change, proliferative type with atypia Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change disease_ontology DOID:3274 proliferative type fibrocystic change of breast A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. url:https://pubmed.ncbi.nlm.nih.gov/34967547/ 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. ICDO:8580/3 MESH:D013945 NCI:C3411 SNOMEDCT_US_2023_03_01:444231005 UMLS_CUI:C0040100 disease_ontology DOID:3275 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. 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 An immune system cancer located_in the thymus. DOID:10143 ICD10CM:C37 ICD9CM:164.0 MESH:D013953 NCI:C4962 SNOMEDCT_US_2023_03_01:94096009 UMLS_CUI:C0751552 Thymic tumor neoplasm of thymus thymic neoplasm disease_ontology DOID:3277 thymus cancer An immune system cancer located_in the thymus. url:http://en.wikipedia.org/wiki/Thymus NCI:C7386 UMLS_CUI:C1333383 disease_ontology DOID:3278 encapsulated thymoma NCI:C6454 SNOMEDCT_US_2023_03_01:1144928005 UMLS_CUI:C1266091 Medullary Thymoma Thymoma, medullary disease_ontology DOID:3279 spindle cell thymoma NCI:C6885 SNOMEDCT_US_2023_03_01:1144922006 UMLS_CUI:C1266092 Thymoma, mixed type disease_ontology DOID:3280 mixed type thymoma A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. NCI:C7114 ORDO:263317 SNOMEDCT_US_2023_03_01:1144924007 UMLS_CUI:C1328042 dendritic cell thymoma epithelioid Thymoma disease_ontology DOID:3282 thymoma type B A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ NCI:C6453 UMLS_CUI:C0278846 Infiltrating Thymoma Thymoma malignant Invasive disease_ontology DOID:3283 invasive 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. ICDO:8586/3 MESH:D013945 NCI:C7569 SNOMEDCT_US_2023_03_01:128717008 UMLS_CUI:C0205969 Thymoma, malignant malignant Thymoma disease_ontology DOID:3284 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. url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 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. GARD:10722 ICD10CM:B04 ICD9CM:059.01 MESH:D045908 NCI:C128421 SNOMEDCT_US_2023_03_01:240466002 UMLS_CUI:C0276180 monkeypox disease_ontology DOID:3292 November 2022 WHO name update. mpox 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 url:https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). ICDO:9073/1 MESH:D018238 NCI:C3754 OMIM:424500 SNOMEDCT_US_2023_03_01:74751003 UMLS_CUI:C0206661 disease_ontology DOID:3301 OMIM mapping confirmed by DO. [SN]. gonadoblastoma A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). url:http://en.wikipedia.org/wiki/Gonadoblastoma A notochordal cancer that derives_from cellular remnants of the notochord. GARD:1303 ICDO:9370/3 MESH:D002817 NCI:C2947 SNOMEDCT_US_2023_03_01:50007008 UMLS_CUI:C0008487 notochordoma disease_ontology DOID:3302 OMIM mapping confirmed by DO. [SN]. chordoma A notochordal cancer that derives_from cellular remnants of the notochord. url:http://en.wikipedia.org/wiki/Chordoma An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. NCI:C7063 UMLS_CUI:C1335069 disease_ontology notochordal tumor DOID:3303 notochordal cancer An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. url:http://en.wikipedia.org/wiki/Notochord A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. ICDO:9081/3 MESH:D018243 NCI:C3756 SNOMEDCT_US_2023_03_01:67830002 UMLS_CUI:C0206664 mixed Embryonal carcinoma and teratoma disease_ontology DOID:3305 teratocarcinoma 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 A germ cell cancer that occurs in many forms. ICDO:9085/3 NCI:C4290 SNOMEDCT_US_2023_03_01:189853002 UMLS_CUI:C0334524 mixed germ cell neoplasm mixed germ cell tumor mixed germ cell tumour mixed teratoma and seminoma disease_ontology DOID:3306 mixed germ cell cancer A germ cell cancer that occurs in many forms. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. ICDO:9080/3 MESH:D013724 NCI:C3403 SNOMEDCT_US_2023_03_01:36591000119102 UMLS_CUI:C0039538 disease_ontology DOID:3307 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. url:http://en.wikipedia.org/wiki/Teratoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. DOID:5676 GARD:5140 ICDO:9070/3 MESH:D018236 NCI:C3752 NCI:C8880 SNOMEDCT_US_2023_03_01:1156454002 UMLS_CUI:C0206659 UMLS_CUI:C0855159 primary extragonadal embryonal carcinoma disease_ontology DOID:3308 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 A dermatitis that is characterized by chronic itching or scaling. MESH:D009450 NCI:C111963 SNOMEDCT_US_2023_03_01:156383005 UMLS_CUI:C0027822 disease_ontology DOID:3309 neurodermatitis A dermatitis that is characterized by chronic itching or scaling. url:https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634 A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. ICD10CM:G96.9 MESH:D002493 NCI:C2934 SNOMEDCT_US_2023_03_01:267144009 UMLS_CUI:C0007682 disease_ontology DOID:331 central nervous system disease 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 A mood disorder that involves alternating periods of mania and depression. DOID:3311 DOID:9554 DOID:9555 GARD:10249 ICD10CM:F31 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MESH:D001714 NCI:C34423 NCI:C34424 NCI:C34805 SNOMEDCT_US_2023_03_01:16506000 SNOMEDCT_US_2023_03_01:191627008 SNOMEDCT_US_2023_03_01:192355004 SNOMEDCT_US_2023_03_01:68569003 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780 Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder disease_ontology Depressive-manic psych. DOID:3312 bipolar disorder A mood disorder that involves alternating periods of mania and depression. url:http://en.wikipedia.org/wiki/Mood_disorder A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. ICDO:8860/0 MESH:D018207 NCI:C3734 SNOMEDCT_US_2023_03_01:19929002 UMLS_CUI:C0206633 disease_ontology DOID:3314 angiomyolipoma MESH:D018207 A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. url:http://en.wikipedia.org/wiki/Angiomyolipoma url:https://www.ncbi.nlm.nih.gov/pubmed/9503504 A cell type benign neoplasm that is composed of lipocytes. DOID:3154 DOID:9291 ICD10CM:D17 ICD10CM:D17.9 ICD9CM:214 ICDO:8850/0 MESH:D008067 MESH:D018205 NCI:C3192 NCI:C4248 NCI:C4502 SNOMEDCT_US_2023_03_01:115227001 SNOMEDCT_US_2023_03_01:154612003 SNOMEDCT_US_2023_03_01:254830006 UMLS_CUI:C0023798 UMLS_CUI:C0206631 UMLS_CUI:C0346118 Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue disease_ontology multiple lipomatosis DOID:3315 OMIM mapping confirmed by DO. [SN]. lipoma A cell type benign neoplasm that is composed of lipocytes. url:http://en.wikipedia.org/wiki/Benign_tumor DOID:5234 NCI:C6528 NCI:C6530 UMLS_CUI:C1334611 UMLS_CUI:C1335392 malignant perivascular cancer disease_ontology DOID:3316 perivascular tumor NCI:C27485 SNOMEDCT_US_2023_03_01:1196904007 UMLS_CUI:C1333962 disease_ontology DOID:3317 hepatic angiomyolipoma NCI:C38151 SNOMEDCT_US_2021_09_01:733836008 Epithelioid angiomyolipoma disease_ontology DOID:3318 epithelioid type angiomyolipoma A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. DOID:3682 GARD:3319 ICDO:9174/1 NCI:C38153 OMIM:606690 ORDO:538 SNOMEDCT_US_2023_03_01:277844007 UMLS_CUI:C0349649 lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis disease_ontology DOID:3319 lymphangioleiomyomatosis MESH:D018192 A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. url:https://pubmed.ncbi.nlm.nih.gov/31610670/ A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. GARD:5786 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 SNOMEDCT_US_2023_03_01:86044005 UMLS_CUI:C0002736 ALS Lou Gehrig's disease motor neuron disease, bulbar disease_ontology DOID:332 amyotrophic lateral sclerosis MESH:D000690 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 A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. GARD:7737 ICD10CM:E75.02 MESH:D013661 NCI:C85184 OMIM:272800 SNOMEDCT_US_2023_03_01:111385000 UMLS_CUI:C0039373 GM2 gangliosidosis, type 1 hexosaminidase A deficiency disease_ontology DOID:3320 OMIM mapping confirmed by DO. [SN]. Tay-Sachs disease A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. url:https://medlineplus.gov/genetics/condition/tay-sachs-disease/ url:https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease url:https://www.ncbi.nlm.nih.gov/books/NBK1218/ A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. GARD:10891 ICD10CM:E75.19 MESH:D016537 NCI:C84739 SNOMEDCT_US_2023_03_01:32917001 UMLS_CUI:C0085131 Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1 disease_ontology DOID:3322 OMIM mapping confirmed by DO. [SN]. GM1 gangliosidosis A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. url:https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. GARD:7604 ICD10CM:E75.01 MESH:D012497 NCI:C85052 OMIM:268800 SNOMEDCT_US_2023_03_01:23849003 UMLS_CUI:C0036161 Sandhoff Jatzkewitz disease disease_ontology DOID:3323 OMIM mapping confirmed by DO. [SN]. Sandhoff disease MESH:D012497 A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/sandhoff-disease A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. EFO:0004247 ICD10CM:F39 MESH:D019964 NCI:C92200 SNOMEDCT_US_2023_03_01:46206005 UMLS_CUI:C0525045 episodic mood disorder disease_ontology DOID:3324 Updating outdated UMLS CUI. mood disorder A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. url:https://en.wikipedia.org/wiki/Mood_disorder ICD10CM:D69.2 MESH:D011693 NCI:C78787 SNOMEDCT_US_2023_03_01:423902002 UMLS_CUI:C0034150 Purpuric disorder disease_ontology DOID:3326 purpura MESH:D011693 MESH:D020938 NCI:C50847 SNOMEDCT_US_2023_03_01:128612007 UMLS_CUI:C0016399 Focal motor seizure epilepsy, focal motor disease_ontology DOID:3327 partial motor epilepsy A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. MESH:D004833 NCI:C177244 OMIM:PS600512 SNOMEDCT_US_2023_03_01:84340007 UMLS_CUI:C0014556 epilepsy, temporal lobe disease_ontology DOID:3328 temporal lobe epilepsy A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. url:https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy 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. ICD10CM:F60.4 ICD9CM:301.5 MESH:D006677 NCI:C92634 SNOMEDCT_US_2023_03_01:192489002 UMLS_CUI:C0019681 disease_ontology DOID:334 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. url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. MESH:D010002 NCI:C34875 SNOMEDCT_US_2023_03_01:190451000 UMLS_CUI:C0029405 Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease disease_ontology DOID:3341 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. url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). GARD:10670 MESH:D009081 NCI:C61267 OMIM:256550 SNOMEDCT_US_2023_03_01:70528007 UMLS_CUI:C0026697 Mucolipidosis type I sialidosis disease_ontology DOID:3343 OMIM mapping submitted by NeuroDevNet. [LS]. glycoproteinosis A mucolipidosis 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 A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). DOID:183 GARD:7284 ICDO:9180/3 MESH:D012516 MESH:D018213 NCI:C9145 OMIM:259500 ORDO:668 SNOMEDCT_US_2023_03_01:189878003 UMLS_CUI:C0029463 UMLS_CUI:C0206639 Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma disease_ontology DOID:3347 OMIM mapping confirmed by DO. [SN]. osteosarcoma A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). url:http://en.wikipedia.org/wiki/Osteosarcoma url:http://www.cancer.gov/dictionary?cdrid=45395 A cell type cancer that has_material_basis_in abnormally proliferating cells derives 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 NCI:C6587 NCI:C7059 UMLS_CUI:C1332517 UMLS_CUI:C1334699 benign miscellaneous mesenchymal tumor mesenchymal tumor disease_ontology DOID:3350 mesenchymal cell neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derives 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/ NCI:C6479 UMLS_CUI:C1332574 osseous hemangiosarcoma disease_ontology DOID:3351 bone angioendothelial sarcoma NCI:C8563 UMLS_CUI:C0740479 malignant fibrous Histiocytoma of the bone disease_ontology DOID:3352 malignant fibrous histiocytoma of bone 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:3509 GARD:2327 ICDO:8810/3 MESH:D005354 MESH:D018218 NCI:C3043 NCI:C6605 NCI:C7075 SNOMEDCT_US_2023_03_01:443250000 UMLS_CUI:C0016057 UMLS_CUI:C0206643 UMLS_CUI:C1336021 Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm disease_ontology DOID:3355 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. url:http://en.wikipedia.org/wiki/Fibrosarcoma An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. NCI:C7780 UMLS_CUI:C0278511 localised Osteogenic sarcoma localised osteosarcoma localized Osteogenic sarcoma disease_ontology DOID:3356 localized osteosarcoma An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. url:https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html An osteosarcoma arising from the soft tissue. NCI:C8810 SNOMEDCT_US_2023_03_01:404077005 UMLS_CUI:C0855052 extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma disease_ontology DOID:3357 extraosseous osteosarcoma An osteosarcoma arising from the soft tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/ NCI:C6470 SNOMEDCT_US_2023_03_01:431371000124105 UMLS_CUI:C1334820 disease_ontology DOID:3360 multifocal osteogenic sarcoma NCI:C6585 UMLS_CUI:C1332986 pediatric osteosarcoma disease_ontology DOID:3361 childhood osteosarcoma GARD:6200 ICD10CM:I25.41 ICD9CM:414.11 MESH:D003323 NCI:C168176 SNOMEDCT_US_2023_03_01:50570003 UMLS_CUI:C0010051 Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels disease_ontology DOID:3362 coronary aneurysm NCI:C7154 UMLS_CUI:C1332579 disease_ontology DOID:3367 bone leiomyosarcoma A peripheral primitive neuroectodermal tumor that is located_in bone. DOID:4984 DOID:6392 NCI:C35871 NCI:C4835 NCI:C6623 SNOMEDCT_US_2023_03_01:307608006 UMLS_CUI:C0585474 UMLS_CUI:C1333481 UMLS_CUI:C1334406 Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma disease_ontology Ewing's sarcoma of bone bone Ewing's sarcoma DOID:3368 Ewing sarcoma of bone A peripheral primitive neuroectodermal tumor that is located_in bone. url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. DOID:0050607 DOID:4158 DOID:4390 DOID:4391 DOID:4392 DOID:4980 GARD:6390 ICDO:9364/3 MESH:C563168 MESH:D012512 MESH:D018241 NCI:C27901 NCI:C27903 NCI:C4817 NCI:C7542 NCI:C7806 NCI:C9341 OMIM:612219 SNOMEDCT_US_2023_03_01:134210007 SNOMEDCT_US_2023_03_01:73676002 SNOMEDCT_US_2023_03_01:76909002 UMLS_CUI:C0553580 UMLS_CUI:C0684337 UMLS_CUI:C0796547 UMLS_CUI:C0863029 UMLS_CUI:C0877849 UMLS_CUI:C1334408 Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region 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 disease_ontology DOID:3369 OMIM mapping confirmed by DO. [SN]. Ewing sarcoma A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor url:http://www.cancer.gov/dictionary?cdrid=383924 NCI:C5829 SNOMEDCT_US_2023_03_01:126977003 UMLS_CUI:C1263902 XIth Cranial nerve tumors neoplasm of accessory nerve disease_ontology DOID:337 spinal accessory nerve neoplasm A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. DOID:3370 GARD:6004 GARD:6055 ICDO:9220/3 MESH:D002813 NCI:C2946 NCI:C7155 OMIM:215300 SNOMEDCT_US_2023_03_01:443520009 SNOMEDCT_US_2023_03_01:735679005 UMLS_CUI:C0008479 UMLS_CUI:C1335473 Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone disease_ontology DOID:3371 OMIM mapping confirmed by DO. [SN]. chondrosarcoma A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. url:http://en.wikipedia.org/wiki/Chondrosarcoma ICDO:9181/3 NCI:C4021 SNOMEDCT_US_2023_03_01:76312009 UMLS_CUI:C0279603 chondrosarcomatous Osteogenic sarcoma disease_ontology DOID:3372 chondroblastic osteosarcoma ICDO:9192/3 MESH:D018217 NCI:C8969 SNOMEDCT_US_2023_03_01:91242000 UMLS_CUI:C0206642 Parosteal Osteogenic sarcoma juxtacortical osteosarcoma disease_ontology DOID:3373 parosteal osteosarcoma NCI:C7134 UMLS_CUI:C1332591 Surface Osteosarcoma disease_ontology DOID:3374 peripheral osteosarcoma An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. DOID:8580 NCI:C53707 SNOMEDCT_US_2023_03_01:307576001 UMLS_CUI:C0585442 Osteosarcoma of bone primary Osteosarcoma of bone disease_ontology DOID:3376 bone osteosarcoma An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. url:https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma NCI:C4023 SNOMEDCT_US_2023_03_01:12302002 UMLS_CUI:C0279622 Round cell osteosarcoma small cell Osteosarcoma disease_ontology DOID:3377 small cell osteogenic sarcoma NCI:C38157 UMLS_CUI:C1334704 disease_ontology DOID:3379 metachronous osteosarcoma of the bone NCI:C7598 UMLS_CUI:C1332581 Liposarcoma of the bone disease_ontology DOID:3381 liposarcoma of bone A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. DOID:3939 GARD:6913 ICDO:8850/3 MESH:D008080 NCI:C3194 SNOMEDCT_US_2023_03_01:254829001 UMLS_CUI:C0023827 lipomatous cancer disease_ontology DOID:3382 liposarcoma A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. url:http://en.wikipedia.org/wiki/Liposarcoma A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. MESH:D016585 NCI:C116973 SNOMEDCT_US_2023_03_01:237092002 UMLS_CUI:C0085166 disease_ontology DOID:3385 bacterial vaginosis A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. ICD10CM:K05.6 MESH:D010510 NCI:C63743 SNOMEDCT_US_2023_03_01:196354003 UMLS_CUI:C0031090 disease of supporting structures of teeth periodontium disorder disease_ontology DOID:3388 periodontal disease A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. GARD:3100 MESH:D010214 NCI:C84992 OMIM:245000 ORDO:678 SNOMEDCT_US_2023_03_01:40158001 UMLS_CUI:C0030360 Papillon Lefevre syndrome Papillon-Lefvre syndrome disease_ontology DOID:3389 OMIM mapping confirmed by DO. [SN]. Papillon-Lefevre disease An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/ A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). ICD9CM:352.4 MESH:D020436 NCI:C26953 SNOMEDCT_US_2023_03_01:84759007 UMLS_CUI:C0152180 Eleventh nerve disorder disorder of 11th nerve disorder of accessory [11th] nerve disorder of accessory nerve disease_ontology DOID:339 accessory nerve disease A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). url:https://en.wikipedia.org/wiki/Accessory_nerve_disorder 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. DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 SNOMEDCT_US_2023_03_01:194852007 SNOMEDCT_US_2023_03_01:233822007 SNOMEDCT_US_2023_03_01:41702007 SNOMEDCT_US_2023_03_01:53741008 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694 CHD Coronary disease coronary arteriosclerosis coronary heart disease disease_ontology DOID:3393 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Coronary_heart_disease A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). ICD10CM:E22.2 MESH:D007177 NCI:C3988 SNOMEDCT_US_2023_03_01:55004003 UMLS_CUI:C0021141 SIADH syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion disease_ontology DOID:3401 inappropriate ADH syndrome MESH:D007177 A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). url:https://medlineplus.gov/ency/article/000314.htm A lymphatic system disease that is characterized by an excessive number of histiocytes. DOID:3344 MESH:D015614 NCI:C3106 SNOMEDCT_US_2023_03_01:60657004 UMLS_CUI:C0019618 Hand Schuller Christian disease chronic Histiocytosis X disease_ontology DOID:3405 histiocytosis 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 MESH:D002340 NCI:C84476 SNOMEDCT_US_2023_03_01:371160000 UMLS_CUI:C0007273 disorder of carotid artery disease_ontology DOID:3407 carotid artery disease 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. GARD:6968 MESH:D008363 NCI:C84548 OMIM:248500 SNOMEDCT_US_2023_03_01:65524005 UMLS_CUI:C0024748 Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase disease_ontology DOID:3413 OMIM mapping confirmed by DO. [SN]. alpha-mannosidosis MESH:D008363 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 NCI:C5828 SNOMEDCT_US_2023_03_01:126975006 UMLS_CUI:C1263900 neoplasm of glossopharyngeal nerve tumor of Glossopharyngeal nerve disease_ontology DOID:3417 glossopharyngeal nerve neoplasm MESH:D019574 NCI:C4801 SNOMEDCT_US_2023_03_01:126968005 UMLS_CUI:C0524802 Tumour of optic nerve neoplasm of optic nerve tumor of Second Cranial nerve disease_ontology DOID:3419 optic nerve neoplasm NCI:C5825 SNOMEDCT_US_2023_03_01:126970001 UMLS_CUI:C1263896 neoplasm of trochlear nerve tumor of Trochlear nerve disease_ontology DOID:3421 trochlear nerve neoplasm NCI:C27575 UMLS_CUI:C1334150 disease_ontology DOID:3428 Adding UMLS CUI for synonym. granulomatous myositis A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. GARD:3896 ICD10CM:G72.41 ICD9CM:359.71 MESH:D018979 NCI:C84786 OMIM:147421 ORDO:611 SNOMEDCT_US_2023_03_01:72315009 UMLS_CUI:C0238190 disease_ontology DOID:3429 OMIM mapping confirmed by DO. [SN]. inclusion body myositis MESH:D018979 A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. url:http://en.wikipedia.org/wiki/Inclusion_body_myositis url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. NCI:C27199 UMLS_CUI:C0742115 disease_ontology DOID:3431 cerebritis A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. url:https://en.wikipedia.org/wiki/Cerebritis A acute laryngitis which is caused by viral infection. NCI:C27305 SNOMEDCT_US_2023_03_01:441551009 UMLS_CUI:C0853195 disease_ontology DOID:3436 viral laryngitis A acute laryngitis which is caused by viral infection. url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html 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. MESH:D007827 NCI:C26811 SNOMEDCT_US_2023_03_01:45913009 UMLS_CUI:C0023067 disease_ontology DOID:3437 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. url:http://en.wikipedia.org/wiki/Laryngitis A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. NCI:C7073 UMLS_CUI:C1368019 Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease disease_ontology DOID:3443 mammary Paget's disease A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/ NCI:C7728 UMLS_CUI:C0238330 Paget's disease of scrotum scrotum Paget disease disease_ontology DOID:3444 scrotum Paget's disease NCI:C6389 UMLS_CUI:C1370468 carcinoma of scrotum disease_ontology DOID:3445 scrotal carcinoma NCI:C5598 UMLS_CUI:C1332274 Paget's disease of anus anal Paget disease disease_ontology Paget's disease of the anus DOID:3446 anal Paget's disease An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. NCI:C5600 SNOMEDCT_US_2023_03_01:423607006 UMLS_CUI:C1332257 adenocarcinoma of anus disease_ontology adenocarcinoma of the anus DOID:3447 anus adenocarcinoma 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 NCI:C27817 SNOMEDCT_US_2023_03_01:255104003 UMLS_CUI:C0221286 Paget's disease of penis penis Paget disease disease_ontology DOID:3448 penis Paget's disease A penile cancer that is located_in the skin or tissues of the penis. NCI:C9061 SNOMEDCT_US_2023_03_01:372106005 UMLS_CUI:C0853105 Penile carcinoma carcinoma of penis disease_ontology DOID:3449 penis carcinoma A penile cancer that is located_in the skin or tissues of the penis. url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis A female reproductive system disease that is located_in the uterus. ICD10CM:N85.9 ICD9CM:621.9 MESH:D014591 NCI:C26907 SNOMEDCT_US_2023_03_01:237068005 UMLS_CUI:C0042131 disease_ontology DOID:345 uterine disease A female reproductive system disease that is located_in the uterus. url:http://www.merriam-webster.com/dictionary/uterus A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. MESH:D010145 NCI:C3302 Paget's disease of skin cutaneous Paget disease extramammary Paget's disease disease_ontology DOID:3450 cutaneous Paget's disease A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. url:https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE A skin cancer that is located_in tissues of the skin and develops from epithelial cells. NCI:C4914 UMLS_CUI:C0699893 carcinoma of skin disease_ontology DOID:3451 skin carcinoma A skin cancer that is located_in tissues of the skin and develops from epithelial cells. url:http://www.cancer.gov/cancertopics/types/skin A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. MESH:D018275 NCI:C3771 SNOMEDCT_US_2023_03_01:89740008 UMLS_CUI:C0206692 Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast disease_ontology DOID:3457 invasive lobular carcinoma A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. url:http://www.breastcancer.org/symptoms/types/ilc url:https://www.ncbi.nlm.nih.gov/pubmed/25849106 A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. NCI:C5214 SNOMEDCT_US_2023_03_01:865954003 UMLS_CUI:C0858252 Mammary adenocarcinoma disease_ontology adenocarcinoma of breast DOID:3458 breast adenocarcinoma 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 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0000305 MESH:D001943 NCI:C4872 SNOMEDCT_US_2023_03_01:154513000 UMLS_CUI:C0678222 Mammary carcinoma carcinoma of breast disease_ontology DOID:3459 breast carcinoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Breast_cancer A thoracic disease that is located_in the breast. ICD10CM:N64.9 ICD9CM:610-612.99 MESH:D001941 NCI:C26709 SNOMEDCT_US_2023_03_01:79604008 UMLS_CUI:C0006145 disease_ontology DOID:3463 breast disease A thoracic disease that is located_in the breast. url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html DOID:6353 MESH:D015811 NCI:C3142 NCI:C4554 SNOMEDCT_US_2023_03_01:188264002 SNOMEDCT_US_2023_03_01:231964001 UMLS_CUI:C0022079 UMLS_CUI:C0346372 malignant neoplasm of the Iris malignant tumor of iris tumor of the Iris disease_ontology DOID:3478 iris cancer An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. DOID:12754 NCI:C6105 UMLS_CUI:C3665670 Malignant neoplasm of uveal tract Uveal tumor malignant Uveal tumor disease_ontology DOID:3479 uveal cancer An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. url:https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. GARD:8192 MESH:D014603 NCI:C26908 SNOMEDCT_US_2023_03_01:95678007 UMLS_CUI:C0042161 disease_ontology DOID:3480 uveal disease An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908 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. ICD10CM:A20 ICD9CM:020 MESH:D010930 NCI:C85015 SNOMEDCT_US_2023_03_01:58750007 UMLS_CUI:C0032064 disease_ontology DOID:3482 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. url:https://www.ncbi.nlm.nih.gov/pubmed/29628173 GARD:13040 MESH:D009335 NCI:C34840 SNOMEDCT_US_2023_03_01:201319007 UMLS_CUI:C0027538 disease_ontology DOID:3486 necrobiosis lipoidica 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 ICD10CM:L03.90 MESH:D002481 NCI:C26715 NCI:C34454 SNOMEDCT_US_2023_03_01:267833003 SNOMEDCT_US_2023_03_01:74276003 UMLS_CUI:C0007642 UMLS_CUI:C0007646 disease_ontology DOID:3488 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. url:http://en.wikipedia.org/wiki/Cellulitis GARD:8616 ICD10CM:D47.02 MESH:D034721 NCI:C9235 SNOMEDCT_US_2023_03_01:123310005 UMLS_CUI:C0221013 SMCD - systemic mast cell disease systemic tissue mast cell disease disease_ontology DOID:349 systemic mastocytosis A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. GARD:10955 ICD10CM:Q87.19 MESH:D009634 NCI:C34854 OMIM:PS163950 ORDO:648 SNOMEDCT_US_2023_03_01:88327006 UMLS_CUI:C0028326 Turner's phenotype, karyotype normal disease_ontology DOID:3490 OMIM mapping confirmed by DO. [SN]. Noonan syndrome A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. DOID:5448 GARD:2540 GARD:7831 ICD10CM:Q96 MESH:D014424 NCI:C26900 NCI:C34434 SNOMEDCT_US_2023_03_01:38804009 UMLS_CUI:C0041408 UMLS_CUI:C1527168 Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome disease_ontology DOID:3491 No OMIM mapping, confirmed by DO. [LS]. Turner syndrome A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. url:https://ghr.nlm.nih.gov/condition/turner-syndrome url:https://rarediseases.org/rare-diseases/turner-syndrome/ url:https://research.nhgri.nih.gov/atlas/condition/turner-syndrome url:https://www.genome.gov/Genetic-Disorders/Turner-Syndrome 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. GARD:7051 ICD10CM:M35.1 MESH:D008947 NCI:C84892 SNOMEDCT_US_2023_03_01:33110008 UMLS_CUI:C0026272 Connective tissue disease overlap syndrome mixed collagen vascular disease disease_ontology DOID:3492 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. url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. MESH:D018279 NCI:C3774 SNOMEDCT_US_2023_03_01:189701002 UMLS_CUI:C0206696 Signet ring carcinoma Signet ring cell carcinoma disease_ontology DOID:3493 signet ring cell adenocarcinoma 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 NCI:C5776 UMLS_CUI:C0861859 disease_ontology DOID:3494 bile duct signet ring cell carcinoma An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C7975 UMLS_CUI:C0279659 adenocarcinoma of extrahepatic bile duct disease_ontology adenocarcinoma of the extrahepatic bile duct DOID:3495 extrahepatic bile duct adenocarcinoma An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C5720 UMLS_CUI:C1335317 Signet Ring cell carcinoma of pancreas pancreatic signet ring cell carcinoma disease_ontology DOID:3497 pancreatic signet ring cell adenocarcinoma A pancreatic adenocarcinoma that derives_from pancreatic duct cells. NCI:C9120 SNOMEDCT_US_2023_03_01:792907004 UMLS_CUI:C1335302 ductal adenocarcinoma of the pancreas disease_ontology DOID:3498 pancreatic ductal adenocarcinoma A pancreatic adenocarcinoma that derives_from pancreatic duct cells. url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma url:http://en.wikipedia.org/wiki/Pancreatic_cancer NCI:C5745 UMLS_CUI:C1333758 Signet Ring cell carcinoma of the gallbladder disease_ontology DOID:3499 gallbladder signet ring cell adenocarcinoma GARD:6987 ICD10CM:D47.09 MESH:D008415 NCI:C84269 OMIM:154800 SNOMEDCT_US_2023_03_01:78745000 UMLS_CUI:C0024899 mast cell hyperplasia disease_ontology DOID:350 OMIM mapping confirmed by DO. [LS]. mastocytosis A gallbladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C9166 UMLS_CUI:C0279651 adenocarcinoma of the gallbladder disease_ontology DOID:3500 gallbladder adenocarcinoma A gallbladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C6656 UMLS_CUI:C1332249 ampullary signet ring cell carcinoma disease_ontology DOID:3501 ampullary signet ring cell adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. NCI:C6650 UMLS_CUI:C1332243 ampullary adenocarcinoma disease_ontology adenocarcinoma of ampulla of vater DOID:3502 ampulla of Vater adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. NCI:C5175 UMLS_CUI:C1335964 Mammary Signet Ring cell carcinoma disease_ontology signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/ NCI:C5535 UMLS_CUI:C1335520 Signet Ring cell carcinoma of prostate prostate signet ring cell carcinoma disease_ontology DOID:3504 prostate signet ring cell adenocarcinoma NCI:C7809 UMLS_CUI:C0278595 disease_ontology DOID:3516 adult fibrosarcoma NCI:C9429 UMLS_CUI:C1333156 disease_ontology DOID:3517 conventional fibrosarcoma NCI:C8088 UMLS_CUI:C0279981 pediatric fibrosarcoma disease_ontology DOID:3520 childhood fibrosarcoma A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. ICD10CM:G46.3 MESH:D014854 NCI:C84807 SNOMEDCT_US_2023_03_01:78569004 UMLS_CUI:C0043019 Posterior inferior cerebellar artery syndrome Wallenberg syndrome disease_ontology DOID:3522 lateral medullary syndrome A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. url:https://en.wikipedia.org/wiki/Lateral_medullary_syndrome A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. ICD10CM:I63 MESH:D002544 NCI:C50486 OMIM:601367 SNOMEDCT_US_2023_03_01:195188006 UMLS_CUI:C0007785 CVA - Cerebral infarction Cerebral infarct disease_ontology DOID:3526 cerebral infarction A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. url:https://en.wikipedia.org/wiki/Cerebral_infarction A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. GARD:6014 ICD10CM:G71.29 MESH:D020512 NCI:C83010 OMIM:117000 ORDO:597 SNOMEDCT_US_2023_03_01:43152001 UMLS_CUI:C0751951 central core disease central core myopathy disease_ontology DOID:3529 OMIM mapping confirmed by DO. [SN]. congenital myopathy 1A A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. url:https://medlineplus.gov/genetics/condition/central-core-disease/ url:https://pubmed.ncbi.nlm.nih.gov/23553484/ url:https://pubmed.ncbi.nlm.nih.gov/34627702/ A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. GARD:8214 MESH:D020192 NCI:C84804 OMIM:254780 SNOMEDCT_US_2023_03_01:230425004 UMLS_CUI:C0751783 Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA disease_ontology DOID:3534 OMIM mapping confirmed by DO. [SN]. Lafora disease A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19267391 url:https://www.ncbi.nlm.nih.gov/pubmed/19469843 A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. GARD:3876 MESH:D020194 NCI:C179710 SNOMEDCT_US_2023_03_01:192847001 UMLS_CUI:C0751785 Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease disease_ontology DOID:3535 OMIM mapping confirmed by DO. [LS]. Unverricht-Lundborg syndrome A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. url:https://www.ncbi.nlm.nih.gov/pubmed/19469843 A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. MESH:D016545 NCI:C3473 SNOMEDCT_US_2023_03_01:254942002 UMLS_CUI:C0085138 tumor of choroid plexus tumor of the Choroid Plexus disease_ontology choroid plexus neoplasm DOID:3540 choroid plexus cancer 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 A cerebrum cancer that is located_in the cerebral ventricles. DOID:10856 GARD:6025 ICD10CM:C71.5 ICD9CM:191.5 MESH:D002551 NCI:C2937 SNOMEDCT_US_2023_03_01:126958000 SNOMEDCT_US_2023_03_01:363471001 UMLS_CUI:C0007798 UMLS_CUI:C0346906 Intraventricular tumor of brain cerebral ventricle neoplasm disease_ontology DOID:3541 cerebral ventricle cancer A cerebrum cancer that is located_in the cerebral ventricles. url:http://en.wikipedia.org/wiki/Ventricular_system NCI:C8568 UMLS_CUI:C0796430 neoplasm of the adult Choroid Plexus disease_ontology adult choroid plexus tumor DOID:3542 adult choroid plexus cancer ICDO:9390/1 NCI:C53686 SNOMEDCT_US_2023_03_01:1156470000 UMLS_CUI:C1266176 disease_ontology DOID:3544 atypical choroid plexus papilloma NCI:C42080 UMLS_CUI:C0280623 disease_ontology childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer A sarcoma that has_material_basis_in mast cells. ICD10CM:C96.22 ICD9CM:202.6 MESH:D012515 NCI:C9348 SNOMEDCT_US_2023_03_01:118615008 UMLS_CUI:C0036221 disease_ontology DOID:355 mast-cell sarcoma A sarcoma that has_material_basis_in mast cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24745684 A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. GARD:7712 MESH:D013478 NCI:C85175 ORDO:622099 SNOMEDCT_US_2023_03_01:24988007 UMLS_CUI:C0038828 Wilkie's syndrome disease_ontology DOID:3557 superior mesenteric artery syndrome A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. url:https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK482209/ ICD10CM:K31.5 MESH:D004380 NCI:C79548 SNOMEDCT_US_2023_03_01:95532008 UMLS_CUI:C0013292 disease_ontology DOID:3558 duodenal obstruction An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. GARD:7488 ICDO:8480/6 MESH:D011553 NCI:C3345 SNOMEDCT_US_2023_03_01:307601000 UMLS_CUI:C0033822 mucinous Ascites disease_ontology DOID:3559 pseudomyxoma peritonei 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.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract url:https://www.ncbi.nlm.nih.gov/pubmed/14567019 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:3567 DOID:4750 GARD:7015 ICD10CM:D32.9 ICDO:9530/0 MESH:D008579 NCI:C3230 NCI:C6971 SNOMEDCT_US_2023_03_01:269643009 UMLS_CUI:C0025286 UMLS_CUI:C1334698 meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor disease_ontology DOID:3565 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. url:http://en.wikipedia.org/wiki/Meningioma A hepatobiliary system cancer that is located_in the liver. DOID:12300 DOID:269 DOID:7330 DOID:915 DOID:919 ICD10CM:C22.0 ICD10CM:C22.9 ICD9CM:155.0 ICD9CM:155.2 MESH:D008113 NCI:C34803 NCI:C7692 SNOMEDCT_US_2023_03_01:126851005 SNOMEDCT_US_2023_03_01:187771009 SNOMEDCT_US_2023_03_01:93870000 UMLS_CUI:C0023903 UMLS_CUI:C0024620 UMLS_CUI:C0345904 UMLS_CUI:C0854795 Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver disease_ontology DOID:3571 liver cancer A hepatobiliary system cancer that is located_in the liver. url:http://en.wikipedia.org/wiki/Liver A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. DOID:0050617 ICDO:8640/1 MESH:D012707 NCI:C39976 SNOMEDCT_US_2023_03_01:128857001 UMLS_CUI:C0036769 tubular androblastoma disease_ontology DOID:3577 Sertoli cell tumor A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. url:https://en.wikipedia.org/wiki/Sertoli_cell_tumour An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. NCI:C39985 SNOMEDCT_US_2023_03_01:716594002 UMLS_CUI:C1518716 disease_ontology DOID:3578 ovarian gonadoblastoma An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. url:https://www.ncbi.nlm.nih.gov/pubmed/21879333 NCI:C39911 UMLS_CUI:C1515283 disease_ontology DOID:3579 testicular gonadoblastoma DOID:14071 DOID:3598 ICD10CM:O01 ICD9CM:630 MESH:D006828 MESH:D031901 NCI:C3110 NCI:C4699 NCI:C7887 OMIM:231090 SNOMEDCT_US_2023_03_01:156085008 SNOMEDCT_US_2023_03_01:417475006 UMLS_CUI:C0020217 UMLS_CUI:C0278796 UMLS_CUI:C1135868 gestational trophoblastic neoplasia hydatidiform mole molar pregnancy disease_ontology DOID:3590 OMIM mapping confirmed by DO. [SN]. gestational trophoblastic neoplasm NCI:C6900 SNOMEDCT_US_2023_03_01:128767001 UMLS_CUI:C1266159 disease_ontology DOID:3593 epithelioid trophoblastic tumor A placenta cancer that has_material_basis_in trophoblastic cells. GARD:6059 ICD10CM:C58 ICDO:9100/3 MESH:D002822 NCI:C2948 SNOMEDCT_US_2023_03_01:189444004 UMLS_CUI:C0008497 Chorioepithelioma disease_ontology DOID:3594 choriocarcinoma A placenta cancer that has_material_basis_in trophoblastic cells. url:https://en.wikipedia.org/wiki/Choriocarcinoma A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. ICDO:9104/1 MESH:D018245 NCI:C3757 SNOMEDCT_US_2023_03_01:75320001 UMLS_CUI:C0206666 Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour disease_ontology DOID:3596 placental site trophoblastic tumor A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. url:https://www.ncbi.nlm.nih.gov/pubmed/14614893 A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. MESH:D020258 NCI:C27961 SNOMEDCT_US_2023_03_01:19466003 UMLS_CUI:C0235032 neurotoxicity neurotoxicity syndrome disease_ontology DOID:3602 toxic encephalopathy A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/ url:https://en.wikipedia.org/wiki/Toxic_encephalopathy A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. ICDO:8470/3 MESH:D018282 NCI:C3776 SNOMEDCT_US_2023_03_01:79143006 UMLS_CUI:C0206699 Pseudomucinous cystadenocarcinoma disease_ontology DOID:3603 mucinous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. url:https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm An ovarian cystadenocarcinoma that is characterized by the presence of mucin. NCI:C4026 SNOMEDCT_US_2023_03_01:254851009 UMLS_CUI:C0279665 mucinous cystadenocarcinoma of ovary disease_ontology DOID:3604 ovarian mucinous cystadenocarcinoma An ovarian cystadenocarcinoma that is characterized by the presence of mucin. url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. NCI:C5228 SNOMEDCT_US_2023_03_01:314191009 UMLS_CUI:C1096638 cystadenocarcinoma of ovary cystadenocarcinoma of the Ovary disease_ontology DOID:3605 ovarian cystadenocarcinoma An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. url:https://pubmed.ncbi.nlm.nih.gov/2196390/ An ovary adenocarcinoma that is characterized by the presence of mucin. NCI:C5243 UMLS_CUI:C1335167 mucinous carcinoma of Ovary disease_ontology DOID:3606 ovarian mucinous adenocarcinoma An ovary adenocarcinoma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/24487473 NCI:C5511 UMLS_CUI:C1096639 Colloidal cystadenocarcinoma of the appendix disease_ontology DOID:3607 appendix mucinous cystadenocarcinoma An appendix carcinoma that derives_from epithelial cells of glandular origin. NCI:C7718 SNOMEDCT_US_2023_03_01:413445002 UMLS_CUI:C0238003 Appendiceal adenocarcinoma disease_ontology DOID:3608 appendix adenocarcinoma An appendix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. NCI:C40354 UMLS_CUI:C1511318 disease_ontology DOID:3609 breast mucinous cystadenocarcinoma A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/ A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. ICD10CM:N80.0 NCI:C27623 SNOMEDCT_US_2023_03_01:61640006 UMLS_CUI:C0269107 Endometriosis of cervix cervical Endometriosis disease_ontology DOID:361 cervix endometriosis A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/21890095 A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. NCI:C9131 SNOMEDCT_US_2023_03_01:444712000 UMLS_CUI:C1334807 Invasive mucinous breast carcinoma disease_ontology mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. url:http://surgpathcriteria.stanford.edu/breast/mucincabr/ url:https://www.ncbi.nlm.nih.gov/pubmed/24305754 ICD10CM:H30.9 MESH:D012173 NCI:C115993 SNOMEDCT_US_2023_03_01:35426003 UMLS_CUI:C0035333 disease_ontology DOID:3612 retinitis A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. GARD:5984 MESH:D017825 NCI:C84611 OMIM:271900 SNOMEDCT_US_2023_03_01:80544005 UMLS_CUI:C0206307 ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system disease_ontology DOID:3613 OMIM mapping confirmed by DO. [SN]. Canavan disease A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/2512436/ url:https://pubmed.ncbi.nlm.nih.gov/3354621/ A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). GARD:10771 ICD10CM:E23.0 MESH:D017436 NCI:C75479 ORDO:478 SNOMEDCT_US_2023_03_01:190559001 UMLS_CUI:C0162809 Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia disease_ontology DOID:3614 Kallmann syndrome A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). url:https://www.ncbi.nlm.nih.gov/pubmed/26194704 An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. NCI:C7449 SNOMEDCT_US_2023_03_01:24045002 UMLS_CUI:C1305256 Angiolipoma, infiltrating disease_ontology DOID:3615 infiltrating angiolipoma An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. url:https://www.spandidos-publications.com/10.3892/ol.2014.2737 A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. ICDO:8861/0 MESH:D018206 NCI:C3733 SNOMEDCT_US_2023_03_01:404057003 UMLS_CUI:C0206632 disease_ontology DOID:3616 angiolipoma MESH:D018206 A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. url:http://en.wikipedia.org/wiki/Angiolipoma NCI:C5424 UMLS_CUI:C1333416 Angiolipoma of Extradural Spinal canal disease_ontology DOID:3617 epidural spinal canal angiolipoma MESH:D015174 NCI:C3019 SNOMEDCT_US_2023_03_01:1153337000 UMLS_CUI:C0014536 Extradural tumor disease_ontology DOID:3618 epidural spinal canal neoplasm A nervous system cancer that is located_in the central nervous system. DOID:0060093 DOID:1318 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI:C4627 NCI:C9293 SNOMEDCT_US_2023_03_01:126951006 SNOMEDCT_US_2023_03_01:93744007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system disease_ontology DOID:3620 central nervous system cancer A nervous system cancer that is located_in the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. DOID:11138 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 MESH:D001014 MESH:D001019 NCI:C26697 NCI:C27046 NCI:C27198 NCI:C27299 SNOMEDCT_US_2023_03_01:14336007 SNOMEDCT_US_2023_03_01:155419006 SNOMEDCT_US_2023_03_01:195265003 SNOMEDCT_US_2023_03_01:34365005 SNOMEDCT_US_2023_03_01:73067008 UMLS_CUI:C0003486 UMLS_CUI:C0265010 UMLS_CUI:C0265012 UMLS_CUI:C0741160 UMLS_CUI:C1305122 ruptured aortic aneurysm disease_ontology DOID:3627 aortic aneurysm MESH:D001014 MESH:D001019 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 A female reproductive organ cancer that is located_in the uterus. DOID:4363 ICD10CM:C55 ICD9CM:179 MESH:D014594 NCI:C3435 NCI:C3552 SNOMEDCT_US_2023_03_01:126908007 SNOMEDCT_US_2023_03_01:371973000 UMLS_CUI:C0042138 UMLS_CUI:C0153567 CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm disease_ontology DOID:363 uterine cancer A female reproductive organ cancer that is located_in the uterus. url:http://www.cancer.gov/dictionary?CdrID=445094 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. MESH:D044905 NCI:C84596 OMIM:248510 SNOMEDCT_US_2023_03_01:238047006 UMLS_CUI:C4048196 Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency disease_ontology DOID:3633 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Beta-mannosidosis 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). GARD:11902 MESH:D020294 NCI:C84647 OMIM:PS601462 ORDO:590 SNOMEDCT_US_2023_03_01:230672006 UMLS_CUI:C0751882 disease_ontology DOID:3635 Xref MGI. 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). url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 NCI:C9234 UMLS_CUI:C1134515 childhood Spinal Cord neoplasm disease_ontology DOID:3637 childhood spinal cord tumor NCI:C5428 UMLS_CUI:C1334259 Intramedullary Spinal teratoma disease_ontology DOID:3639 spinal cord intramedullary teratoma A teratoma that is located_in the central nervous system. NCI:C5441 UMLS_CUI:C1332895 CNS teratoma disease_ontology DOID:3640 central nervous system teratoma A teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C5443 UMLS_CUI:C1333153 tumor of Conus Medullaris disease_ontology DOID:3641 conus medullaris neoplasm GARD:6331 MESH:D004652 NCI:C84686 SNOMEDCT_US_2023_03_01:393569006 UMLS_CUI:C0014008 disease_ontology DOID:3642 empty sella syndrome MESH:D004652 NCI:C4944 UMLS_CUI:C0748616 tumor of Sella Turcica disease_ontology DOID:3643 sella turcica neoplasm MESH:D007029 NCI:C3129 SNOMEDCT_US_2023_03_01:254968009 UMLS_CUI:C0020659 neoplasm of the Hypothalamus tumor of hypothalamus disease_ontology DOID:3644 hypothalamic neoplasm NCI:C27066 SNOMEDCT_US_2023_03_01:59572000 UMLS_CUI:C0271558 Pituitary necrosis disease_ontology DOID:3646 necrosis of pituitary 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. GARD:4620 GARD:7513 ICD10CM:E74.4 MESH:D015325 NCI:C103968 OMIM:245348 OMIM:245349 OMIM:312170 OMIM:608782 OMIM:614111 ORDO:79243 SNOMEDCT_US_2023_03_01:46683007 UMLS_CUI:C0034345 deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency disease_ontology DOID:3649 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 A urinary system disease that is located_in the bladder. ICD10CM:N32.9 ICD9CM:596.9 MESH:D001745 NCI:C2900 SNOMEDCT_US_2023_03_01:42643001 UMLS_CUI:C0005686 Urinary Bladder Disease disease_ontology DOID:365 bladder disease A urinary system disease that is located_in the bladder. url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html A metabolic acidosis characterized by buildup of lactate. ICD10CM:E87.20 MESH:D000140 NCI:C98969 SNOMEDCT_US_2023_03_01:91273001 UMLS_CUI:C0001125 disease_ontology DOID:3650 lactic acidosis A metabolic acidosis characterized by buildup of lactate. url:http://en.wikipedia.org/wiki/Lactic_acidosis A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. ICD10CM:E74.4 MESH:D015324 NCI:C85040 OMIM:266150 SNOMEDCT_US_2023_03_01:87694001 UMLS_CUI:C0034341 deficiency of pyruvic carboxylase disease_ontology DOID:3651 OMIM mapping confirmed by DO. [SN]. pyruvate carboxylase deficiency disease A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. url:http://omim.org/entry/266150 url:https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency A cytochrome-c oxidase deficiency 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. GARD:6877 ICD10CM:G31.82 MESH:D007888 NCI:C84814 OMIM:256000 ORDO:506 SNOMEDCT_US_2023_03_01:29570005 UMLS_CUI:C0023264 Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy disease_ontology subacute necrotizing encephalomyelopathy DOID:3652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leigh disease A cytochrome-c oxidase deficiency 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://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ url:https://rarediseases.org/rare-diseases/leigh-syndrome/ A lysosomal storage disease characterized by increased sialic acid in the urine. MESH:D029461 NCI:C85067 OMIM:269921 OMIM:604369 SNOMEDCT_US_2023_03_01:238051008 UMLS_CUI:C0342853 disease_ontology DOID:3659 OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS]. sialuria 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 GARD:7842 ICD10CM:D47.01 MESH:D034701 NCI:C7137 SNOMEDCT_US_2023_03_01:703827008 UMLS_CUI:C1136033 CM disease_ontology DOID:3663 cutaneous mastocytosis A hematologic cancer that has_material_basis_in mast cells. ICD10CM:D47.09 NCI:C9295 SNOMEDCT_US_2023_03_01:127581004 UMLS_CUI:C0334664 Mast cell Proliferative disease mast cell tumor mastocytoma disease_ontology DOID:3664 mast cell neoplasm 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 GARD:12686 ICD10CM:D47.01 MESH:D034701 NCI:C3218 SNOMEDCT_US_2023_03_01:703826004 UMLS_CUI:C0024901 disease_ontology DOID:3665 diffuse cutaneous mastocytosis A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. ICD10CM:D47.01 MESH:D054705 NCI:C7138 SNOMEDCT_US_2023_03_01:239147000 UMLS_CUI:C0343115 Solitary Mastocytoma of skin Solitary mastocytoma cutaneous solitary mastocytoma disease_ontology DOID:3666 solitary mastocytoma of the skin A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. url:https://www.sciencedirect.com/science/article/pii/B9781416030317000127 A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. ICD10CM:G52.0 ICD9CM:352.0 MESH:D020431 NCI:C27210 SNOMEDCT_US_2023_03_01:68982002 UMLS_CUI:C0751937 disorder of 1st nerve disorder of olfactory [1st] nerve disorder of olfactory nerve disease_ontology DOID:367 olfactory nerve disease A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. url:https://en.wikipedia.org/wiki/Olfactory_nerve A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. GARD:7572 MESH:D018335 NCI:C3808 SNOMEDCT_US_2023_03_01:83118000 UMLS_CUI:C0206743 Rhabdoid sarcoma malignant rhabdoid tumour disease_ontology rhabdoid tumor DOID:3672 rhabdoid cancer MESH:D018335 A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. url:https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor A embryonal cancer that is located in the kidney. NCI:C8715 UMLS_CUI:C0854917 renal Rhabdoid tumor rhabdoid tumor of the kidney disease_ontology kidney rhabdoid tumor DOID:3674 kidney rhabdoid cancer A embryonal cancer that is located in the kidney. url:https://pubmed.ncbi.nlm.nih.gov/32853941/ NCI:C6563 UMLS_CUI:C1333003 pediatric renal tumor disease_ontology DOID:3675 childhood kidney cancer A supratentorial cancer that is located_in the cerebrum. DOID:912 ICD9CM:191.8 NCI:C4874 SNOMEDCT_US_2023_03_01:126953009 SNOMEDCT_US_2023_03_01:188300006 UMLS_CUI:C0153642 UMLS_CUI:C1263885 cerebral cancer neoplasm of cerebrum tumor of Cerebrum disease_ontology DOID:368 cerebrum cancer A supratentorial cancer that is located_in the cerebrum. url:http://en.wikipedia.org/wiki/Cerebrum MESH:D008175 NCI:C3200 SNOMEDCT_US_2023_03_01:126713003 UMLS_CUI:C0024121 tumor of the lung disease_ontology DOID:3683 lung benign neoplasm A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. ICD10CM:E88.41 MESH:D017241 NCI:C84885 OMIM:540000 SNOMEDCT_US_2023_03_01:39925003 UMLS_CUI:C0162671 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES disease_ontology DOID:3687 OMIM mapping confirmed by DO. [SN]. MELAS syndrome A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. url:https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes NCI:C27744 UMLS_CUI:C1335437 disease_ontology DOID:3688 plexopathy A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. ICD10CM:G54.5 MESH:D020968 NCI:C84600 SNOMEDCT_US_2023_03_01:26609002 UMLS_CUI:C0221759 Brachial neuritis Parsonage-Aldren-Turner syndrome disease_ontology DOID:3689 brachial plexus neuritis A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis GARD:2197 ICDO:9522/3 MESH:D018304 NCI:C3789 SNOMEDCT_US_2023_03_01:76060004 UMLS_CUI:C0206717 Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma disease_ontology DOID:369 olfactory neuroblastoma A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. ICD10CM:G54.0 MESH:D020516 NCI:C27194 SNOMEDCT_US_2023_03_01:3548001 UMLS_CUI:C0700251 Brachial plexus disorder brachial plexopathy disease_ontology DOID:3690 brachial plexus neuropathy A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. url:https://pubmed.ncbi.nlm.nih.gov/30688233/ url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. NCI:C5606 UMLS_CUI:C1332272 mucinous adenocarcinoma of anus disease_ontology DOID:3691 anal colloid adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. url:http://en.wikipedia.org/wiki/Adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. NCI:C7471 SNOMEDCT_US_2023_03_01:764845008 UMLS_CUI:C1332259 adenocarcinoma of the anal canal disease_ontology adenocarcinoma of anal canal DOID:3692 anal canal adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C27416 UMLS_CUI:C1332248 disease_ontology DOID:3693 ampulla of Vater mucinous adenocarcinoma NCI:C5846 UMLS_CUI:C0861856 mucinous carcinoma of the bile duct disease_ontology DOID:3698 bile duct mucinous adenocarcinoma A uterine ligament adenocarcinoma that produces mucin. NCI:C40137 UMLS_CUI:C5557429 disease_ontology DOID:3699 uterine ligament mucinous adenocarcinoma A uterine ligament adenocarcinoma that produces mucin. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:6486 DOID:8948 ICD9CM:702 MESH:D012871 MESH:D012873 NCI:C156032 NCI:C3371 SNOMEDCT_US_2023_03_01:201095006 SNOMEDCT_US_2023_03_01:5613003 SNOMEDCT_US_2023_03_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 Genodermatosis skin and subcutaneous tissue disease disease_ontology DOID:37 skin disease An integumentary system disease that is located_in skin. url:http://en.wikipedia.org/wiki/Skin_disease ICD10CM:C72.2 NCI:C4768 UMLS_CUI:C0496838 malignant olfactory nerve tumor malignant tumor of Olfactory nerve primary malignant neoplasm of olfactory nerve disease_ontology DOID:370 malignant olfactory nerve neoplasm A uterine ligament 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. NCI:C40135 UMLS_CUI:C5557428 disease_ontology DOID:3700 uterine ligament adenocarcinoma A uterine ligament 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:https://www.ncbi.nlm.nih.gov/pubmed/26699941 A cervical adenocarcinoma that derives_from mucin producing epithelial cells. NCI:C36095 UMLS_CUI:C1332919 disease_ontology DOID:3701 cervical mucinous adenocarcinoma A cervical adenocarcinoma that derives_from mucin producing epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24199926 A cervix carcinoma that derives_from epithelial cells of glandular origin. NCI:C4029 SNOMEDCT_US_2023_03_01:254887002 UMLS_CUI:C0279672 adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix disease_ontology DOID:3702 cervical adenocarcinoma A cervix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. NCI:C5537 UMLS_CUI:C1335513 acinar Colloid prostate adenocarcinoma disease_ontology DOID:3703 prostate colloid adenocarcinoma A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. url:https://www.ncbi.nlm.nih.gov/pubmed/11145249 A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. NCI:C40103 UMLS_CUI:C1517119 disease_ontology DOID:3704 fallopian tube mucinous adenocarcinoma A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/ A fallopian tube benign neoplasm that produces mucin. NCI:C40109 UMLS_CUI:C1517120 disease_ontology DOID:3705 fallopian tube mucinous tumor A fallopian tube benign neoplasm that produces mucin. url:https://pubmed.ncbi.nlm.nih.gov/26894303/ A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. NCI:C6265 UMLS_CUI:C1333590 adenocarcinoma of the fallopian tube disease_ontology DOID:3706 fallopian tube adenocarcinoma A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. NCI:C40144 UMLS_CUI:C1519859 uterine Corpus mucinous adenocarcinoma disease_ontology DOID:3707 endometrial mucinous adenocarcinoma An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/22569105 A rectal adenocarcinoma that produces mucin. NCI:C7973 UMLS_CUI:C0279652 Colloidal adenocarcinoma of rectum disease_ontology DOID:3709 rectum mucinous adenocarcinoma A rectal adenocarcinoma that produces mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/ NCI:C5437 UMLS_CUI:C1333499 disease_ontology DOID:371 extracranial neuroblastoma NCI:C39837 UMLS_CUI:C1511193 disease_ontology DOID:3710 bladder colloid adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C4032 SNOMEDCT_US_2023_03_01:255110003 UMLS_CUI:C0279682 adenocarcinoma of bladder adenocarcinoma of the urinary bladder bladder adenocarcinoma, Not Otherwise Specified disease_ontology DOID:3711 bladder adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. DOID:7816 NCI:C7700 UMLS_CUI:C0948216 Ovarian adenocarcinoma ovarian adenoacanthoma disease_ontology adenocarcinoma of the ovary DOID:3713 ovary adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C5248 UMLS_CUI:C1334809 mucinous adenocarcinoma of the stomach disease_ontology DOID:3716 mucinous stomach adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. NCI:C4004 SNOMEDCT_US_2023_03_01:408647009 UMLS_CUI:C0278701 adenocarcinoma of stomach stomach adenocarcinoma disease_ontology DOID:3717 gastric adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:C90.2 NCI:C4002 SNOMEDCT_US_2023_03_01:128921005 UMLS_CUI:C0278619 extraosseous plasmacytoma plasmacytoma, extramedullary disease_ontology DOID:3720 extramedullary plasmacytoma ICD10CM:C90.3 ICDO:9731/3 MESH:D010954 NCI:C9349 SNOMEDCT_US_2023_03_01:302852008 UMLS_CUI:C0032131 Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma disease_ontology DOID:3721 plasmacytoma NCI:C7812 SNOMEDCT_US_2023_03_01:42215000 UMLS_CUI:C0272256 Isolated osseous plasmacytoma Solitary plasmacytoma of bone disease_ontology DOID:3722 solitary osseous plasmacytoma NCI:C6711 UMLS_CUI:C1332936 Solitary plasmacytoma of the Chest Wall disease_ontology DOID:3723 solitary plasmacytoma of chest wall A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. ICDO:8051/3 MESH:D018289 NCI:C3781 SNOMEDCT_US_2023_03_01:89906000 UMLS_CUI:C0206706 Warty carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma disease_ontology DOID:3737 verrucous carcinoma 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 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. MESH:D009748 NCI:C26836 SNOMEDCT_US_2023_03_01:191077005 UMLS_CUI:C3714509 Nutritional disorder disease_ontology DOID:374 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. url:http://www.who.int/topics/nutrition_disorders/en/ A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. NCI:C6383 UMLS_CUI:C1336983 verrucous carcinoma of Vulva disease_ontology DOID:3740 vulva verrucous carcinoma A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/ NCI:C39832 UMLS_CUI:C1511208 disease_ontology DOID:3741 bladder verrucous squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. NCI:C4031 SNOMEDCT_US_2023_03_01:255111004 UMLS_CUI:C0279681 Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder disease_ontology DOID:3742 bladder squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. url:http://www.cancer.gov/cancertopics/types/bladder A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. NCI:C40190 UMLS_CUI:C1516435 disease_ontology DOID:3743 cervical verrucous carcinoma A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. url:https://www.ncbi.nlm.nih.gov/pubmed/18214065 A cervix carcinoma that has_material_basis_in squamous cells of the cervix. NCI:C4028 SNOMEDCT_US_2023_03_01:254886006 UMLS_CUI:C0279671 squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri disease_ontology DOID:3744 cervical squamous cell carcinoma 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 NCI:C27420 UMLS_CUI:C1333470 oesophagus verrucous carcinoma verrucous carcinoma of esophagus verrucous carcinoma of oesophagus disease_ontology verrucous carcinoma of the esophagus DOID:3747 esophagus verrucous carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. MESH:D000077277 NCI:C4024 SNOMEDCT_US_2023_03_01:276804009 UMLS_CUI:C0279626 SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma disease_ontology DOID:3748 OMIM mapping confirmed by DO. [SN]. esophagus squamous cell carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. url:http://www.cancer.gov/cancertopics/types/esophageal NCI:C39874 UMLS_CUI:C1519827 disease_ontology DOID:3749 urethral verrucous carcinoma A cancer of urethra that shows squamous cell differentiation. NCI:C6165 UMLS_CUI:C1336890 urethral Epidermoid carcinoma disease_ontology DOID:3750 urethra squamous cell carcinoma A cancer of urethra that shows squamous cell differentiation. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma NCI:C6811 SNOMEDCT_US_2023_03_01:254655003 UMLS_CUI:C0349657 disease_ontology DOID:3751 plantar verrucous skin carcinoma NCI:C8188 UMLS_CUI:C0280328 verrucous carcinoma of the Larynx disease_ontology DOID:3752 larynx verrucous carcinoma A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. GARD:6643 ICD10CM:E70.331 MESH:D022861 NCI:C37261 OMIM:PS203300 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2023_03_01:60255003 UMLS_CUI:C0079504 disease_ontology DOID:3753 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hermansky-Pudlak syndrome A syndrome 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 A thrombophilia that is characterized by the tendency to form clots in the veins. ICD10CM:D68.59 MESH:D020152 NCI:C98815 OMIM:613118 SNOMEDCT_US_2023_03_01:36351005 UMLS_CUI:C0272375 AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency disease_ontology DOID:3755 Xref MGI. antithrombin III deficiency A thrombophilia that is 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 A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. GARD:4521 ICD10CM:D68.59 MESH:D020151 NCI:C99025 ORDO:745 SNOMEDCT_US_2023_03_01:76407009 UMLS_CUI:C0398625 disease_ontology DOID:3756 protein C deficiency A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. url:https://pubmed.ncbi.nlm.nih.gov/10942114/ A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. GARD:48 MESH:D030401 NCI:C98910 OMIM:PS220110 SNOMEDCT_US_2023_03_01:237991006 UMLS_CUI:C0268237 MITOCHONDRIAL COMPLEX IV DEFICIENCY disease_ontology DOID:3762 OMIM mapping confirmed by DO. [SN]. cytochrome-c oxidase deficiency disease A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/26846578 MESH:D012734 NCI:C45909 SNOMEDCT_US_2023_03_01:52572004 UMLS_CUI:C0019269 disease_ontology DOID:3763 hermaphroditism A syndrome 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). GARD:5576 MESH:D030321 NCI:C84668 OMIM:194080 SNOMEDCT_US_2023_03_01:236385009 UMLS_CUI:C0950121 disease_ontology DOID:3764 OMIM mapping confirmed by DO. [SN]. Denys-Drash syndrome A syndrome 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 DOID:11226 ICD10CM:Q56 ICD10CM:Q56.3 ICD9CM:752.7 MESH:D012734 NCI:C124575 SNOMEDCT_US_2023_03_01:204895009 SNOMEDCT_US_2023_03_01:268328009 UMLS_CUI:C0021193 UMLS_CUI:C0033804 Indeterminate sex and pseudohermaphroditism disease_ontology DOID:3765 pseudohermaphroditism A vaginal discharge that is characterized by a whitish or yellow color. ICD10CM:N89.8 MESH:D007973 NCI:C34775 SNOMEDCT_US_2023_03_01:156017008 UMLS_CUI:C0023533 Leukorrhea of vagina discharge - leukorrhea disease_ontology DOID:3766 leukorrhea A vaginal discharge that is characterized by a whitish or yellow color. url:https://www.ncbi.nlm.nih.gov/pubmed/27773511 An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. MESH:D011658 NCI:C26869 SNOMEDCT_US_2023_03_01:155613001 UMLS_CUI:C0034069 Fibrosis of lung disease_ontology DOID:3770 pulmonary fibrosis An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 MESH:D008579 NCI:C5273 UMLS_CUI:C1334271 disease_ontology DOID:3772 intraventricular meningioma A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. DOID:3773 ICDO:9444/1 NCI:C5592 ORDO:251674 SNOMEDCT_US_2023_03_01:128789002 UMLS_CUI:C1322252 Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma disease_ontology DOID:3774 chordoid glioma A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. url:https://pubmed.ncbi.nlm.nih.gov/28315998/ url:https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full GARD:6546 ICD10CM:L92.0 MESH:D016460 NCI:C3470 SNOMEDCT_US_2023_03_01:200953005 UMLS_CUI:C0085074 Granulome annulare disease_ontology DOID:3777 granuloma annulare An ovarian disease that is characterized by the absence of ovulation. MESH:D000858 NCI:C34388 SNOMEDCT_US_2023_03_01:34571000 UMLS_CUI:C0003128 disease_ontology DOID:3781 anovulation An ovarian disease that is characterized by the absence of ovulation. url:https://en.wikipedia.org/wiki/Anovulation A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. GARD:6123 MESH:D038921 NCI:C84643 OMIM:303600 SNOMEDCT_US_2023_03_01:15182000 UMLS_CUI:C0265252 disease_ontology DOID:3783 OMIM mapping confirmed by DO. [SN]. Coffin-Lowry syndrome A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance An auditory system disease that is located_in the external ear. DOID:13122 DOID:835 ICD10CM:H61.9 ICD9CM:380 NCI:C26972 SNOMEDCT_US_2023_03_01:49130001 UMLS_CUI:C0155388 Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula disease_ontology DOID:379 external ear disease An auditory system disease that is located_in the external ear. url:https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm 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 ICD10CM:J86 MESH:D016724 NCI:C45692 SNOMEDCT_US_2023_03_01:196069007 UMLS_CUI:C0014013 Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax disease_ontology DOID:3798 Updating outdated UMLS CUI. 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. url:http://en.wikipedia.org/wiki/Pleural_empyema url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh DOID:8668 GARD:10983 ICD10CM:L56.5 ICD9CM:692.75 MESH:D017499 NCI:C85019 OMIM:175800 SNOMEDCT_US_2023_03_01:201086003 SNOMEDCT_US_2023_03_01:238630009 UMLS_CUI:C0162839 UMLS_CUI:C0265970 disseminated superficial actinic porokeratosis disease_ontology DOID:3805 Xref MGI. porokeratosis NCI:C5310 UMLS_CUI:C1333417 disease_ontology DOID:3809 epidural spinal canal meningioma A bone disease that is located_in the joint. DOID:13871 DOID:13960 DOID:1843 DOID:1903 DOID:226 DOID:2317 DOID:2318 DOID:546 DOID:9489 ICD10CM:M00-M02 ICD10CM:M12.9 ICD9CM:711 ICD9CM:719.90 MESH:D007592 NCI:C35760 NCI:C78402 SNOMEDCT_US_2023_03_01:48548006 SNOMEDCT_US_2023_03_01:8316001 UMLS_CUI:C0022408 UMLS_CUI:C0157749 Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm 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 DOID:381 arthropathy A bone disease that is located_in the joint. url:http://en.wikipedia.org/wiki/Arthropathy ls:IEDB NCI:C7001 UMLS_CUI:C1333019 Chondroma of the CNS disease_ontology DOID:3813 central nervous system chondroma A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. NCI:C9482 extraskeletal chondroma disease_ontology DOID:3814 soft tissue chondroma A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. url:https://radiopaedia.org/articles/soft-tissue-chondroma NCI:C27335 SNOMEDCT_US_2023_03_01:827050005 UMLS_CUI:C5231192 disease_ontology DOID:3816 glossopharyngeal nerve paralysis A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. MESH:D003389 NCI:C26941 SNOMEDCT_US_2023_03_01:73013002 UMLS_CUI:C0151311 Cranial nerve Paralysis disease_ontology DOID:3817 cranial nerve palsy A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. url:https://aapos.org/glossary/cranial-nerve-palsy 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. GARD:1481 ICD10CM:K44 MESH:D006548 NCI:C34687 OMIM:142340 OMIM:222400 OMIM:610187 ORDO:2140 SNOMEDCT_US_2023_03_01:155748004 UMLS_CUI:C0019284 Diaphragmatic Hernia disease_ontology DOID:3827 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital diaphragmatic hernia ICD10CM:Q79.0 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 ICDO:8270/0 MESH:D000238 NCI:C2857 SNOMEDCT_US_2023_03_01:37039006 UMLS_CUI:C0001432 Chromophobe adenoma of the Pituitary gland disease_ontology DOID:3828 chromophobe adenoma A pituitary gland benign neoplasm that derives_from glandular epithelial cells. ICDO:8272/0 MESH:D010911 NCI:C3329 OMIM:PS102200 SNOMEDCT_US_2023_03_01:154621002 UMLS_CUI:C0032000 adenoma of the Pituitary gland disease_ontology DOID:3829 pituitary adenoma A pituitary gland benign neoplasm that derives_from glandular epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24010395 DOID:10392 GARD:7897 ICD10CM:I45.6 ICD9CM:426.7 MESH:D014927 NCI:C35132 OMIM:194200 SNOMEDCT_US_2023_03_01:195057009 SNOMEDCT_US_2023_03_01:74390002 UMLS_CUI:C0043202 UMLS_CUI:C0392470 Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation disease_ontology DOID:384 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Wolff-Parkinson-White syndrome GARD:10486 ICDO:9350/1 MESH:D003397 NCI:C2964 SNOMEDCT_US_2023_03_01:189179009 UMLS_CUI:C0010276 neoplasm of Rathke's Pouch disease_ontology DOID:3840 craniopharyngioma MESH:D019292 NCI:C4676 UMLS_CUI:C0376527 tumors of Skull Base disease_ontology DOID:3842 skull base cancer DOID:6097 NCI:C5125 NCI:C5126 UMLS_CUI:C1333286 UMLS_CUI:C1334576 malignant Diencephalic tumor malignant diencephalic neoplasm tumor of Diencephalon disease_ontology DOID:3843 diencephalic neoplasm ICDO:9351/1 MESH:D003397 NCI:C4726 SNOMEDCT_US_2023_03_01:134216001 UMLS_CUI:C0431129 Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous disease_ontology DOID:3846 adamantinous craniopharyngioma ICDO:9352/1 MESH:D003397 NCI:C4725 SNOMEDCT_US_2023_03_01:134215002 UMLS_CUI:C0431128 Papillary Rathke's Pouch tumor craniopharyngioma, papillary disease_ontology DOID:3847 papillary craniopharyngioma NCI:C7076 SNOMEDCT_US_2023_03_01:189867006 UMLS_CUI:C0476144 Hemangiopericytic neoplasm disease_ontology DOID:3850 hemangiopericytic tumor An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. DOID:4133 DOID:4134 DOID:6252 DOID:6253 GARD:7378 ICD10CM:Q85.89 MESH:D010580 NCI:C3324 NCI:C4733 NCI:C7755 OMIM:175200 ORDO:2869 SNOMEDCT_US_2023_03_01:157029009 SNOMEDCT_US_2023_03_01:277161008 SNOMEDCT_US_2023_03_01:53633000 UMLS_CUI:C0031269 UMLS_CUI:C0265323 UMLS_CUI:C0456487 Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma disease_ontology DOID:3852 OMIM mapping confirmed by DO. [SN]. Peutz-Jeghers syndrome An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/10499464/ url:https://pubmed.ncbi.nlm.nih.gov/10874301/ NCI:C39908 SNOMEDCT_US_2023_03_01:236740006 UMLS_CUI:C0341767 Seminal Vesicle neoplasm seminal vesicle tumour tumor of seminal vesicle tumour of seminal vesicle disease_ontology DOID:3855 seminal vesicle tumor A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. DOID:10284 ICD10CM:C63.9 ICD9CM:187.9 MESH:D005834 NCI:C3054 NCI:C8561 SNOMEDCT_US_2023_03_01:126895004 SNOMEDCT_US_2023_03_01:363515000 UMLS_CUI:C0017417 UMLS_CUI:C0153606 male genital cancer male reproductive system neoplasm malignant neoplasm of male genital organ malignant neoplasm of male genital organ or tract malignant neoplasm of male genital organs malignant tumor of male Reproductive system malignant tumor of male genital organ neoplasm of male genital organ tumor of male Reproductive system disease_ontology male genital neoplasm DOID:3856 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. url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm A medulloblastoma that is characterized by cells that are larger than would be normally expected. ICDO:9474/3 NCI:C6904 ORDO:251855 SNOMEDCT_US_2023_03_01:128790006 UMLS_CUI:C1266180 Anaplastic medulloblastoma disease_ontology DOID:3857 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 NCI:C5401 UMLS_CUI:C1332903 Vermis Medulloblastoma disease_ontology DOID:3860 cerebellar vermis medulloblastoma ICDO:9472/3 MESH:D008527 NCI:C3706 SNOMEDCT_US_2023_03_01:24604009 UMLS_CUI:C0205833 disease_ontology DOID:3861 medullomyoblastoma DOID:6380 MESH:D008527 NCI:C4011 UMLS_CUI:C0278876 adult brain medulloblastoma disease_ontology DOID:3864 adult medulloblastoma A central nervous system embryonal tumor that occurs in adults. NCI:C5411 UMLS_CUI:C1332196 adult CNS PNET adult central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:3865 adult central nervous system embryonal tumor A central nervous system embryonal tumor that occurs in adults. url:https://pubmed.ncbi.nlm.nih.gov/33477185/ MESH:D008527 NCI:C9497 SNOMEDCT_US_2023_03_01:83217000 UMLS_CUI:C1275668 Medulloblastoma, melanotic disease_ontology DOID:3868 melanotic medulloblastoma MESH:D008527 NCI:C3997 UMLS_CUI:C0278510 pediatric Medulloblastoma disease_ontology DOID:3869 childhood medulloblastoma A central nervous system embryonal tumor that occurs in childhood. NCI:C5961 UMLS_CUI:C1332957 childhood central nervous system primitive neuroectodermal neoplasm pediatric CNS PNET disease_ontology DOID:3870 childhood central nervous system embryonal tumor A central nervous system embryonal tumor that occurs in childhood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/ A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. ICDO:9471/3 NCI:C5407 SNOMEDCT_US_2023_03_01:733902001 UMLS_CUI:C1334970 Medulloblastoma with extensive nodularity desmoplastic nodular medulloblastoma nodular medulloblastoma disease_ontology DOID:3873 According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma. desmoplastic/nodular medulloblastoma A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. url:https://pubmed.ncbi.nlm.nih.gov/32304218/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/ A phlebitis that results from a blood clot in the vessel. DOID:1146 ICD10CM:I80.0 ICD9CM:451.0 MESH:D013924 NCI:C3410 SNOMEDCT_US_2023_03_01:40283005 SNOMEDCT_US_2023_03_01:64156001 UMLS_CUI:C0040046 UMLS_CUI:C0265057 Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity disease_ontology DOID:3875 thrombophlebitis 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 A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. DOID:0050586 DOID:3040 GARD:9905 MESH:D003123 NCI:C120083 OMIM:PS120435 ORDO:144 SNOMEDCT_US_2023_03_01:700064004 UMLS_CUI:C0009405 UMLS_CUI:C1333990 COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm disease_ontology DOID:3883 OMIM mapping confirmed by DO. [SN]. Lynch syndrome A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin 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 GARD:5732 MESH:D017118 NCI:C84536 OMIM:176000 SNOMEDCT_US_2023_03_01:190914003 UMLS_CUI:C0162565 AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute disease_ontology DOID:3890 acute intermittent porphyria A pancreatic cystadenoma that is characterized by the overproduction of insulin. DOID:3903 GARD:3010 ICDO:8151/3 MESH:D007340 MESH:D007516 NCI:C65184 NCI:C95598 SNOMEDCT_US_2023_03_01:189586007 SNOMEDCT_US_2023_03_01:25324008 UMLS_CUI:C0021670 UMLS_CUI:C0022134 Insulin-Producing tumor of Islet cells Islet cell adenoma disease_ontology DOID:3892 insulinoma A pancreatic cystadenoma that is characterized by the overproduction of insulin. url:https://en.wikipedia.org/wiki/Insulinoma ICDO:8404/0 MESH:D018251 NCI:C3760 SNOMEDCT_US_2023_03_01:80549000 UMLS_CUI:C0206672 Eccrine Cystadenoma Eccrine hidrocystoma of skin apocrine cystadenoma disease_ontology DOID:3893 hidrocystoma MESH:D018251 ICDO:8401/0 NCI:C4168 SNOMEDCT_US_2023_03_01:307596009 UMLS_CUI:C0334345 tubular Apocrine adenoma disease_ontology DOID:3895 apocrine adenoma A sweat gland benign neoplasm that is located_in an apical sweat gland. ICDO:8402/0 MESH:D006607 NCI:C7560 SNOMEDCT_US_2023_03_01:81393009 UMLS_CUI:C0019522 Hidradenoma of skin Sweat gland adenoma Syringoadenoma disease_ontology DOID:3896 hidradenoma A sweat gland benign neoplasm that is located_in an apical sweat gland. url:https://en.wikipedia.org/wiki/Hidradenoma A bronchus cancer that has_material_basis_in epithelial cells. MESH:D002283 NCI:C35875 SNOMEDCT_US_2023_03_01:254622008 UMLS_CUI:C0007121 BC - Bronchogenic carcinoma disease_ontology DOID:3904 bronchus carcinoma A bronchus cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/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. EFO:0001071 NCI:C4878 SNOMEDCT_US_2023_03_01:154485001 UMLS_CUI:C0684249 cancer of lung disease_ontology carcinoma of lung DOID:3905 OMIM mapping confirmed by DO. [SN]. 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. url:https://merck.com/mmpe/sec05/ch062/ch062b.html A non-small cell lung carcinoma that has_material_basis_in the squamous cell. NCI:C3493 SNOMEDCT_US_2023_03_01:254634000 UMLS_CUI:C0149782 Epidermoid cell carcinoma of the lung disease_ontology squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma 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 A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 SNOMEDCT_US_2023_03_01:254637007 UMLS_CUI:C0007131 NSCLC Non-small cell lung cancer non-small cell lung carcinoma disease_ontology DOID:3908 lung non-small cell carcinoma 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 A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. DOID:3909 DOID:4826 EFO:0000571 GARD:5742 MESH:D000077192 NCI:C27745 NCI:C3512 SNOMEDCT_US_2023_03_01:254626006 UMLS_CUI:C0152013 UMLS_CUI:C1335060 bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma disease_ontology adenocarcinoma of lung DOID:3910 lung adenocarcinoma A lung non-small cell 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 A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. GARD:7467 ICD10CM:E34.8 MEDDRA:10036794 MESH:D011371 NCI:C34951 OMIM:176670 ORDO:740 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease disease_ontology DOID:3911 OMIM mapping confirmed by DO. [SN]. progeria A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. url:https://www.genome.gov/Genetic-Disorders/Progeria url:https://www.ncbi.nlm.nih.gov/pubmed/12714972 url:https://www.ncbi.nlm.nih.gov/pubmed/16838330 NCI:C5712 SNOMEDCT_US_2023_03_01:690761000119100 UMLS_CUI:C1335316 disease_ontology DOID:3917 pancreatic serous cystadenoma NCI:C4374 SNOMEDCT_US_2023_03_01:235967003 UMLS_CUI:C0341486 disease_ontology DOID:3918 pancreatic cystadenoma NCI:C41248 UMLS_CUI:C1518875 disease_ontology DOID:3919 pancreatic serous cystic neoplasm NCI:C6504 UMLS_CUI:C1333298 disease_ontology DOID:3923 diffuse lipomatosis NCI:C27487 UMLS_CUI:C1336506 disease_ontology DOID:3925 steroid lipomatosis NCI:C27488 UMLS_CUI:C1334662 disease_ontology DOID:3926 mediastinal lipomatosis GARD:7350 MESH:C535549 NCI:C27486 SNOMEDCT_US_2023_03_01:190802005 UMLS_CUI:C0406608 disease_ontology DOID:3927 pelvic lipomatosis GARD:5750 ICD10CM:E88.2 MESH:D000274 NCI:C84540 OMIM:103200 SNOMEDCT_US_2023_03_01:71404003 UMLS_CUI:C0001529 Dercum disease disease_ontology DOID:3928 OMIM mapping confirmed by DO. [SN]. adiposis dolorosa MESH:D000274 ICD10CM:E24.0 MESH:D047748 NCI:C113210 SNOMEDCT_US_2023_03_01:190502001 UMLS_CUI:C0221406 Overproduction of ACTH pituitary-dependent Cushing disease disease_ontology DOID:3946 pituitary-dependent Cushing's disease MESH:D000308 NCI:C113208 SNOMEDCT_US_2023_03_01:47270006 UMLS_CUI:C0001622 Adrenocortical hyperfunction hyperadrenalism hypercortisolism disease_ontology DOID:3947 adrenal gland hyperfunction 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. GARD:558 MESH:D018268 NCI:C9325 OMIM:202300 SNOMEDCT_US_2023_03_01:255035007 UMLS_CUI:C0206686 Adrenal cortical carcinoma carcinoma of the Adrenal cortex disease_ontology DOID:3948 adrenocortical carcinoma MESH:D018268 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 ICD10CM:I40 ICD9CM:422 NCI:C35206 SNOMEDCT_US_2023_03_01:155336004 UMLS_CUI:C0155686 disease_ontology DOID:3951 acute myocarditis An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. DOID:11007 GARD:5751 ICD10CM:C74 ICD9CM:194.0 MESH:D000310 NCI:C2859 NCI:C9338 SNOMEDCT_US_2023_03_01:127021009 SNOMEDCT_US_2023_03_01:93665005 UMLS_CUI:C0001624 UMLS_CUI:C0750887 adrenal cancer adrenal neoplasm malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland tumor of the Adrenal gland disease_ontology DOID:3953 adrenal gland cancer An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. url:http://en.wikipedia.org/wiki/Adrenal_gland A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. ICD10CM:I42.3 NCI:C27044 SNOMEDCT_US_2023_03_01:33258008 UMLS_CUI:C0264834 Eosinophilic Endomyocardial disease disease_ontology DOID:396 Loeffler endocarditis 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 A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. MESH:D018263 NCI:C8054 OMIM:188470 SNOMEDCT_US_2023_03_01:255028004 UMLS_CUI:C0206682 Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma disease_ontology DOID:3962 OMIM mapping confirmed by DO. [SN]. thyroid gland follicular carcinoma A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer A thyroid gland cancer that has_material_basis_in epithelial cells. EFO:0002892 MESH:D013964 NCI:C4815 UMLS_CUI:C0549473 head and neck cancer, Thyroid disease_ontology DOID:3963 thyroid gland carcinoma A thyroid gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C46095 SNOMEDCT_US_2023_03_01:72174007 UMLS_CUI:C0334327 Follicular adenocarcinoma, trabecular Trabecular Follicular carcinoma disease_ontology DOID:3964 trabecular follicular adenocarcinoma GARD:9266 ICDO:8247/3 NCI:C4068 SNOMEDCT_US_2023_03_01:29792007 UMLS_CUI:C0302182 Trabecular adenocarcinoma trabecular carcinoma disease_ontology DOID:3965 Merkel cell carcinoma MESH:D018265 NCI:C7380 SNOMEDCT_US_2023_03_01:189643000 UMLS_CUI:C0206683 disease_ontology DOID:3968 papillary follicular thyroid adenocarcinoma A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. GARD:12027 MESH:D000077273 NCI:C4035 OMIM:188550 SNOMEDCT_US_2023_03_01:255029007 UMLS_CUI:C0238463 Papillary carcinoma of the Thyroid gland disease_ontology DOID:3969 OMIM mapping confirmed by DO. [SN]. thyroid gland papillary carcinoma A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. url:http://cancergenome.nih.gov/cancersselected/thyroid url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer url:https://www.ncbi.nlm.nih.gov/pubmed/21455196 An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. ICD10CM:I42.5 MESH:D002313 NCI:C62798 OMIM:115210 OMIM:PS115210 ORDO:75249 SNOMEDCT_US_2023_03_01:389996009 UMLS_CUI:C0007196 Cardiomyopathy, constrictive primary restrictive cardiomyopathy disease_ontology Familial restrictive cardiomyopathy DOID:397 Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. restrictive cardiomyopathy An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. url:https://www.ncbi.nlm.nih.gov/pubmed/8995091 Familial restrictive cardiomyopathy OMIM:115210 A thyroid gland carcinoma that has_material_basis_in parafollicular cells. MESH:C536914 NCI:C3879 SNOMEDCT_US_2023_03_01:255032005 UMLS_CUI:C0238462 Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma disease_ontology DOID:3973 thyroid gland medullary carcinoma A thyroid gland carcinoma that has_material_basis_in parafollicular cells. url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. GARD:6564 ICD10CM:G23.0 MESH:D006211 NCI:C8967 OMIM:234200 ORDO:157850 SNOMEDCT_US_2023_03_01:2992000 UMLS_CUI:C0018523 Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1 disease_ontology DOID:3981 OMIM mapping confirmed by DO. [SN]. pantothenate kinase-associated neurodegeneration A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration A Bartholin's gland carcinoma that derives_from transitional epithelial cells. NCI:C40297 UMLS_CUI:C1511053 Bartholin gland transitional cell carcinoma disease_ontology DOID:3998 Bartholin's gland transitional cell carcinoma A Bartholin's gland carcinoma that derives_from transitional epithelial cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/ A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. NCI:C9055 SNOMEDCT_US_2023_03_01:399533005 UMLS_CUI:C0349561 Bartholin gland carcinoma carcinoma of Bartholin's gland disease_ontology DOID:3999 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. url:http://en.wikipedia.org/wiki/Bartholin%27s_gland url:http://en.wikipedia.org/wiki/Carcinoma 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. MESH:D004194 NCI:C2991 SNOMEDCT_US_2023_03_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 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. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/ An ovarian epithelial cancer that derives_from epithelial transitional cells. DOID:2637 DOID:4002 NCI:C5240 UMLS_CUI:C1335184 malignant ovarian transitional cell neoplasm ovarian transitional cell cancer transitional cell carcinoma of Ovary disease_ontology ovarian transitional cell neoplasm DOID:4000 ovary transitional cell carcinoma An ovarian epithelial cancer that derives_from epithelial transitional cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/ ICDO:8121/3 NCI:C54287 SNOMEDCT_US_2023_03_01:5600009 UMLS_CUI:C0334270 Cylindrical cell carcinoma disease_ontology DOID:4003 Schneiderian carcinoma An endometrial carcinoma that derives_from transitional epithelial cells. NCI:C40154 UMLS_CUI:C1516864 disease_ontology DOID:4005 endometrial transitional cell carcinoma An endometrial carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. NCI:C39851 SNOMEDCT_US_2023_03_01:393562002 UMLS_CUI:C0279680 bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma disease_ontology DOID:4006 bladder urothelial 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 A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4912 SNOMEDCT_US_2023_03_01:269607003 UMLS_CUI:C0699885 carcinoma of urinary bladder disease_ontology DOID:4007 bladder carcinoma A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104 A fallopian tube carcinoma that derives_from epithelial transitional cells. NCI:C40104 UMLS_CUI:C1517128 disease_ontology DOID:4008 fallopian tube transitional cell carcinoma A fallopian tube carcinoma that derives_from epithelial transitional cells. url:https://pubmed.ncbi.nlm.nih.gov/26894303/ A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. MESH:D018088 NCI:C128415 SNOMEDCT_US_2023_03_01:423092005 UMLS_CUI:C0206526 disease_ontology DOID:401 multidrug-resistant tuberculosis 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 A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. NCI:C4122 SNOMEDCT_US_2023_03_01:12400006 UMLS_CUI:C0334274 Papillary transitional cell carcinoma disease_ontology DOID:4012 papillary transitional carcinoma A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. url:https://www.healthline.com/health/papillary-urothelial-carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. NCI:C6166 UMLS_CUI:C0863015 urethral transitional cell carcinoma disease_ontology DOID:4013 urethra transitional cell carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. url:https://pubmed.ncbi.nlm.nih.gov/31950597/ url:https://pubmed.ncbi.nlm.nih.gov/9730148/ A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. NCI:C4120 SNOMEDCT_US_2023_03_01:112676006 UMLS_CUI:C0334271 transitional cell carcinoma, sarcomatoid transitional spindle cell carcinoma disease_ontology DOID:4014 sarcomatoid transitional cell carcinoma 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:https://pubmed.ncbi.nlm.nih.gov/16504263/ A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. MESH:D002277 NCI:C27004 SNOMEDCT_US_2023_03_01:65692009 UMLS_CUI:C0205697 spindle cell carcinoma disease_ontology DOID:4015 sarcomatoid carcinoma A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004 A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. MESH:D014518 NCI:C123159 OMIM:191650 SNOMEDCT_US_2023_03_01:12818004 UMLS_CUI:C0041960 disease_ontology DOID:4022 OMIM mapping confirmed by DO. [LS]. ureterocele A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. url:https://www.ncbi.nlm.nih.gov/pubmed/23969704 ICDO:8142/3 MESH:D008039 NCI:C3190 SNOMEDCT_US_2023_03_01:307594007 UMLS_CUI:C0023743 Leather-bottle stomach disease_ontology DOID:4023 linitis plastica An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. ICDO:8141/3 MESH:D002293 NCI:C2928 SNOMEDCT_US_2023_03_01:4584002 UMLS_CUI:C0007135 adenocarcinoma with Productive Fibrosis disease_ontology DOID:4024 scirrhous adenocarcinoma An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. url:https://pubmed.ncbi.nlm.nih.gov/34084475/ A skin hemangioma that is 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. ICD10CM:L81.7 NCI:C3926 OMIM:106050 OMIM:300652 ORDO:95429 SNOMEDCT_US_2023_03_01:49465005 UMLS_CUI:C0263637 Angioma serpiginosum of skin disease_ontology DOID:4028 Xref MGI. angioma serpiginosum A skin hemangioma that is 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 A stomach disease that is an inflammation of the lining of the stomach. DOID:4032 DOID:8697 DOID:8845 DOID:9190 ICD10CM:K29.7 MESH:D005756 NCI:C26780 SNOMEDCT_US_2023_03_01:155711008 UMLS_CUI:C0017152 Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion disease_ontology DOID:4029 gastritis A stomach disease that is an inflammation of the lining of the stomach. url:http://en.wikipedia.org/wiki/Gastritis A gastrointestinal system disease that is located_in the mouth. MESH:D009059 NCI:C27641 SNOMEDCT_US_2023_03_01:118938008 UMLS_CUI:C0026636 disease_ontology DOID:403 mouth disease A gastrointestinal system disease that is located_in the mouth. url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology ICD9CM:535.7 NCI:C27052 SNOMEDCT_US_2023_03_01:196738004 UMLS_CUI:C0267154 disease_ontology DOID:4030 eosinophilic gastritis ICD9CM:558.41 NCI:C35330 SNOMEDCT_US_2023_03_01:359804008 UMLS_CUI:C1262481 disease_ontology DOID:4031 eosinophilic gastroenteritis 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. NCI:C27340 SNOMEDCT_US_2023_03_01:723096000 UMLS_CUI:C0948039 disease_ontology DOID:4033 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. url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html url:https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. NCI:C27342 SNOMEDCT_US_2023_03_01:723097009 UMLS_CUI:C0948638 disease_ontology DOID:4034 fungal gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html NCI:C27051 SNOMEDCT_US_2023_03_01:235658000 UMLS_CUI:C1283271 disease_ontology DOID:4035 lymphocytic gastritis NCI:C27329 UMLS_CUI:C0877152 disease_ontology DOID:4037 necrotizing gastritis ICD10CM:K29.6 NCI:C27348 UMLS_CUI:C1112577 disease_ontology DOID:4038 granulomatous gastritis NCI:C6516 UMLS_CUI:C1334619 malignant tumor of Skeletal Muscle disease_ontology DOID:4043 skeletal muscle cancer NCI:C6514 SNOMEDCT_US_2023_03_01:699955004 UMLS_CUI:C1335971 tumor of Skeletal Muscle disease_ontology DOID:4044 skeletal muscle neoplasm A musculoskeletal system cancer that is located_in muscle. DOID:4046 ICD10CM:C49 MESH:D009217 MESH:D019042 NCI:C4883 SNOMEDCT_US_2023_03_01:20667008 SNOMEDCT_US_2023_03_01:93913006 UMLS_CUI:C0027095 UMLS_CUI:C0684743 malignant neoplasm of muscle malignant tumor of muscle malignant tumor of the Muscle myosarcoma disease_ontology DOID:4045 muscle cancer A musculoskeletal system cancer that is located_in muscle. url:http://en.wikipedia.org/wiki/Muscle A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. NCI:C5834 UMLS_CUI:C1333975 Rhabdomyosarcoma of Liver disease_ontology DOID:4047 liver rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 NCI:C5464 UMLS_CUI:C1332891 Rhabdomyosarcoma of the CNS disease_ontology DOID:4048 central nervous system rhabdomyosarcoma A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. NCI:C6617 UMLS_CUI:C1334677 Rhabdomyosarcoma of mediastinum disease_ontology DOID:4049 mediastinum rhabdomyosarcoma A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. url:https://pubmed.ncbi.nlm.nih.gov/28024111/ A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. NCI:C6606 UMLS_CUI:C1334678 sarcoma of mediastinum disease_ontology DOID:4050 mediastinum sarcoma A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. url:https://www.sciencedirect.com/science/article/pii/S1556086415305220 DOID:4382 GARD:4701 ICDO:8920/3 MESH:D018232 NCI:C3749 NCI:C7958 OMIM:268220 SNOMEDCT_US_2023_03_01:404053004 UMLS_CUI:C0206655 UMLS_CUI:C0279613 alveolar childhood rhabdomyosarcoma disease_ontology DOID:4051 OMIM mapping confirmed by DO. [SN]. alveolar rhabdomyosarcoma A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. NCI:C5627 UMLS_CUI:C1335687 Rhabdomyosarcoma of rectum disease_ontology DOID:4053 rectum rhabdomyosarcoma 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 A prostate cancer that is located_in the prostate. NCI:C7731 UMLS_CUI:C0238393 sarcoma of the prostate disease_ontology DOID:4054 prostate sarcoma A prostate cancer that is located_in the prostate. url:https://radiopaedia.org/articles/prostate-sarcoma ICDO:8921/3 NCI:C4716 SNOMEDCT_US_2023_03_01:128750008 UMLS_CUI:C0431111 Rhabdomyosarcoma with ganglionic differentiation disease_ontology DOID:4055 ectomesenchymoma A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. NCI:C5839 UMLS_CUI:C1333756 Rhabdomyosarcoma of the gallbladder disease_ontology DOID:4057 gallbladder rhabdomyosarcoma A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:https://gut.bmj.com/content/35/6/854 A sarcoma that is located_in the gallbladder. NCI:C5736 UMLS_CUI:C1333757 malignant mesenchymal tumor of gallbladder disease_ontology DOID:4058 gallbladder sarcoma A sarcoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/19194282 An ovary sarcoma that arises from skeletal muscle progenitors. NCI:C5236 UMLS_CUI:C1335176 Rhabdomyosarcoma of Ovary disease_ontology DOID:4059 ovary rhabdomyosarcoma An ovary sarcoma that arises from skeletal muscle progenitors. url:https://www.ncbi.nlm.nih.gov/pubmed/9553806 A breast sarcoma that arises from skeletal muscle cells. NCI:C5190 UMLS_CUI:C1332637 Rhabdomyosarcoma of the breast disease_ontology DOID:4060 breast rhabdomyosarcoma A breast sarcoma that arises from skeletal muscle cells. url:https://en.wikipedia.org/wiki/Rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. NCI:C6378 UMLS_CUI:C1336726 Rhabdomyosarcoma of testis disease_ontology DOID:4061 testis rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. url:https://www.ncbi.nlm.nih.gov/pubmed/21470524 A sarcoma and malignant neoplasm of testis that is located_in the testis. NCI:C6359 UMLS_CUI:C1336727 sarcoma of testis disease_ontology DOID:4062 testis sarcoma A sarcoma and malignant neoplasm of testis that is located_in the testis. url:https://jamanetwork.com/journals/jama/fullarticle/462919 A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. NCI:C5029 UMLS_CUI:C2205442 sarcoma of the bile duct disease_ontology DOID:4064 bile duct sarcoma A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Sarcoma_botryoides A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5610 UMLS_CUI:C1332276 rhabdomyosarcoma of anus disease_ontology DOID:4066 anus rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/ A sarcoma and malignant neoplasm of anus that is located_in the anus. NCI:C5611 UMLS_CUI:C1332277 sarcoma of anus disease_ontology DOID:4067 anus sarcoma A sarcoma and malignant neoplasm of anus that is located_in the anus. url:http://en.wikipedia.org/wiki/Sarcoma NCI:C3874 SNOMEDCT_US_2023_03_01:235966007 UMLS_CUI:C0238337 cystadenocarcinoma of pancreas disease_ontology DOID:4073 pancreatic cystadenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. NCI:C8294 SNOMEDCT_US_2023_03_01:700423003 UMLS_CUI:C0281361 pancreas adenocarcinoma disease_ontology adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICDO:8161/3 NCI:C4130 SNOMEDCT_US_2023_03_01:50422007 UMLS_CUI:C0334286 biliary cystadenocarcinoma disease_ontology DOID:4075 bile duct cystadenocarcinoma 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. MESH:D014264 NCI:C50783 SNOMEDCT_US_2023_03_01:49915006 UMLS_CUI:C0040963 Tricuspid stenosis disease_ontology DOID:4078 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. url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis 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:989 MESH:D006349 MESH:D016127 NCI:C45525 SNOMEDCT_US_2023_03_01:368009 SNOMEDCT_US_2023_03_01:398995000 UMLS_CUI:C0018824 UMLS_CUI:C0079485 Valvular heart disease disease_ontology DOID:4079 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). url:http://en.wikipedia.org/wiki/Heart_valve_disease 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. MESH:D014262 NCI:C50842 SNOMEDCT_US_2023_03_01:111287006 UMLS_CUI:C0040961 Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation disease_ontology DOID:4080 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. url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency NCI:C39934 UMLS_CUI:C1515301 disease_ontology DOID:4084 testicular trophoblastic tumor A germ cell and embryonal cancer that derives_from trophoblastic tissue. MESH:D014328 NCI:C3422 SNOMEDCT_US_2023_03_01:115234004 UMLS_CUI:C0041182 Trophoblastic tumor disease_ontology DOID:4085 trophoblastic neoplasm A germ cell and embryonal cancer that derives_from trophoblastic tissue. url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm A testicular germ cell cancer characterized by the absence of a seminomatous component. ICDO:9065/3 NCI:C9313 SNOMEDCT_US_2023_03_01:107691000119101 UMLS_CUI:C2057625 Testicular Non-Seminomatous Germ Cell Tumor disease_ontology DOID:4086 testicular germ cell tumor non-seminomatous A testicular germ cell cancer characterized by the absence of a seminomatous component. url:https://pubmed.ncbi.nlm.nih.gov/24819978/ NCI:C39915 UMLS_CUI:C1514608 disease_ontology DOID:4087 testicular pure germ cell tumor DOID:2164 DOID:2165 DOID:46 ICD10CM:K76.9 ICD9CM:573.9 MESH:D008107 NCI:C3196 SNOMEDCT_US_2023_03_01:62857009 UMLS_CUI:C0023895 disorder of liver hepatic disorder disease_ontology DOID:409 liver disease 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 GARD:8 ICD10CM:R48.1 MESH:D000377 NCI:C84542 SNOMEDCT_US_2023_03_01:42341009 UMLS_CUI:C0001816 Dyspraxia Dyspraxia syndrome disease_ontology DOID:4090 agnosia MESH:D000377 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 A cervical carcinosarcoma that is located_in the cervix. NCI:C40229 SNOMEDCT_US_2023_03_01:764847000 UMLS_CUI:C1516426 cervical Muellerian adenosarcoma cervical Mullerian adenosarcoma disease_ontology DOID:4111 cervical adenosarcoma A cervical carcinosarcoma that is located_in the cervix. url:https://pubmed.ncbi.nlm.nih.gov/17292949/ A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:4431 DOID:6173 NCI:C36097 NCI:C40226 NCI:C40228 SNOMEDCT_US_2023_03_01:764951002 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 DOID:4112 cervical carcinosarcoma A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.ncbi.nlm.nih.gov/pubmed/18357808 An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. NCI:C6336 UMLS_CUI:C1336917 uterine Corpus mullerian adenosarcoma disease_ontology adenosarcoma of uterine corpus DOID:4113 uterine corpus 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 A uterine corpus cancer that has_material_basis_in more than one type of cell. NCI:C6311 UMLS_CUI:C1334628 malignant mixed tumor of Corpus Uteri disease_ontology DOID:4114 uterine body mixed cancer A uterine corpus cancer that has_material_basis_in more than one type of cell. url:http://en.wikipedia.org/wiki/Uterine_cancer An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. NCI:C7317 UMLS_CUI:C1335169 Ovarian mullerian Adenosarcoma disease_ontology DOID:4115 ovarian mesodermal adenosarcoma An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:https://www.ncbi.nlm.nih.gov/pubmed/12360039 A vaginal carcinosarcoma derives_from the glands that line the uterus. NCI:C40277 UMLS_CUI:C1519914 disease_ontology DOID:4117 vaginal adenosarcoma A vaginal carcinosarcoma derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm NCI:C5697 SNOMEDCT_US_2023_03_01:1162856006 UMLS_CUI:C1333097 Colonic neuroendocrine tumor disease_ontology DOID:4118 colon neuroendocrine neoplasm NCI:C5695 UMLS_CUI:C1334231 intestinal neuroendocrine benign tumour neuroendocrine tumor of Intestine neuroendocrine tumour of Intestine disease_ontology DOID:4119 intestinal neuroendocrine benign tumor ICDO:8840/3 MESH:D009236 NCI:C3255 SNOMEDCT_US_2023_03_01:28351005 UMLS_CUI:C0027155 disease_ontology DOID:4136 myxosarcoma A biliary tract disease located_in one or more bile ducts. MESH:D001649 NCI:C96716 SNOMEDCT_US_2023_03_01:118926004 UMLS_CUI:C0005395 bile duct disorder disorder of bile duct disease_ontology DOID:4138 bile duct disease A biliary tract disease located_in one or more bile ducts. url:https://medlineplus.gov/bileductdiseases.html url:https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z url:https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders 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. MESH:D008579 NCI:C6778 UMLS_CUI:C1334261 disease_ontology DOID:4141 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. url:http://www.mayfieldclinic.com/pe-meni.htm 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:9984 ICD10CM:C69.6 ICD9CM:190.1 MESH:D009918 NCI:C3290 NCI:C3562 SNOMEDCT_US_2023_03_01:127003006 SNOMEDCT_US_2023_03_01:363462005 UMLS_CUI:C0029185 UMLS_CUI:C0153626 malignant neoplasm of orbit neoplasm of orbit proper orbit cancer orbital tumor disease_ontology DOID:4143 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. url:https://www.ncbi.nlm.nih.gov/books/NBK13668/ NCI:C36207 UMLS_CUI:C0948101 GI adenoma disease_ontology DOID:4147 gastrointestinal adenoma NCI:C27721 UMLS_CUI:C1333799 disease_ontology DOID:4148 gastrointestinal neuroendocrine benign tumor A chordoma that is located_in the skull base. NCI:C5453 UMLS_CUI:C1335975 Chordoma of the Skull Base disease_ontology DOID:4151 skull base chordoma A chordoma that is located_in the skull base. url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85 A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. ICDO:9371/3 NCI:C6902 SNOMEDCT_US_2023_03_01:128784007 UMLS_CUI:C1266173 disease_ontology DOID:4152 chondroid chordoma A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. url:http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma url:https://my.clevelandclinic.org/health/diseases/17916-chordoma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ A chordoma that derives_from the spine. NCI:C5156 Chordoma of Spine disease_ontology DOID:4153 spinal chordoma A chordoma that derives_from the spine. url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. GARD:6258 ICD10CM:K00.5 MESH:D003811 NCI:C84667 OMIM:125490 OMIM:125500 ORDO:49042 SNOMEDCT_US_2023_03_01:367461002 UMLS_CUI:C0011436 disease_ontology DOID:4154 OMIM mapping confirmed by DO. [SN]. dentinogenesis imperfecta A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. url:https://pubmed.ncbi.nlm.nih.gov/19021896/ 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 ICD9CM:091.9 MESH:C536773 NCI:C128413 SNOMEDCT_US_2023_03_01:154382002 UMLS_CUI:C0149985 secondary syphilis of viscera or bone disease_ontology DOID:4157 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. GARD:10421 MESH:D012878 NCI:C2920 SNOMEDCT_US_2023_03_01:94047004 UMLS_CUI:C0007114 CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer disease_ontology cancer of skin DOID:4159 skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. url:https://medlineplus.gov/skincancer.html url:https://www.genome.gov/Genetic-Disorders/Skin-Cancer NCI:C42048 UMLS_CUI:C1511934 disease_ontology DOID:4160 differentiating neuroblastoma ICDO:9490/3 MESH:D018305 NCI:C3790 SNOMEDCT_US_2023_03_01:116381000119105 UMLS_CUI:C0206718 disease_ontology DOID:4163 ganglioneuroblastoma A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. NCI:C4826 SNOMEDCT_US_2023_03_01:281560004 UMLS_CUI:C0559458 neuroblastoma of Cerebrum neuroblastoma of brain neuroblastoma of the cerebral hemisphere disease_ontology DOID:4164 cerebral neuroblastoma A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. url:https://en.wikipedia.org/wiki/Neuroblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/6886755 MESH:D012203 NCI:C113150 SNOMEDCT_US_2023_03_01:199580004 UMLS_CUI:C0035404 Rh incompatibility affecting management of mother disease_ontology DOID:4175 Rh isoimmunization A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. EFO:0000717 GARD:9748 ICD10CM:M34.0 ICD9CM:710.1 MESH:D012595 NCI:C72070 OMIM:181750 SNOMEDCT_US_2023_03_01:89155008 UMLS_CUI:C0036421 Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis disease_ontology DOID:418 systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. url:https://ghr.nlm.nih.gov/condition/systemic-scleroderma sn:IEDB GARD:7860 MESH:D011556 NCI:C129722 OMIM:612463 SNOMEDCT_US_2023_03_01:190867002 UMLS_CUI:C0033835 Normocalcemic pseudohypoparathyroidism disease_ontology DOID:4183 OMIM mapping confirmed by DO. [SN]. pseudopseudohypoparathyroidism GARD:10758 ICD10CM:E20.1 MESH:D011547 NCI:C99027 OMIM:612462 SNOMEDCT_US_2023_03_01:190867002 UMLS_CUI:C0033806 disease_ontology DOID:4184 OMIM mapping confirmed by DO. [SN]. pseudohypoparathyroidism MESH:D011547 A speech disorder that involves the automatic repetition of vocalizations made by another person. MESH:D004454 NCI:C97166 SNOMEDCT_US_2023_03_01:64712007 UMLS_CUI:C0013528 disease_ontology DOID:4188 echolalia A speech disorder that involves the automatic repetition of vocalizations made by another person. url:http://en.wikipedia.org/wiki/Echolalia A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. MESH:D012594 NCI:C26746 SNOMEDCT_US_2023_03_01:201440007 UMLS_CUI:C0011644 dermatosclerosis disease_ontology DOID:419 scleroderma A rheumatic 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 url:https://scleroderma.org/ MESH:D044882 NCI:C53655 SNOMEDCT_US_2023_03_01:126877002 UMLS_CUI:C1257958 disorder of glucose metabolism disease_ontology DOID:4194 glucose metabolism disease ICD10CM:R73.9 MESH:D006943 NCI:C26797 SNOMEDCT_US_2023_03_01:144187006 UMLS_CUI:C0020456 disease_ontology DOID:4195 hyperglycemia A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. ICD10CM:G57.2 MESH:D020428 NCI:C27595 SNOMEDCT_US_2023_03_01:25690000 UMLS_CUI:C0751931 Femoral nerve lesions femoral nerve dysfunction disease_ontology DOID:4196 femoral neuropathy A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. url:https://medlineplus.gov/ency/article/000687.htm A hair disease characterized by hair growth that is abnormal in quantity or location. ICD10CM:L68 MESH:D006983 NCI:C79597 ORDO:79365 SNOMEDCT_US_2023_03_01:201164001 UMLS_CUI:C0020555 disease_ontology DOID:420 hypertrichosis A hair disease characterized by hair growth that is abnormal in quantity or location. url:https://www.ncbi.nlm.nih.gov/pubmed/18328202 MESH:D020427 NCI:C27596 UMLS_CUI:C0747533 disease_ontology DOID:4201 peroneal neuropathy A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. NCI:C8501 SNOMEDCT_US_2023_03_01:444545003 UMLS_CUI:C0677865 Brainstem Neuroglial tumor disease_ontology DOID:4202 brain stem glioma A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. url:https://en.wikipedia.org/wiki/Brainstem_glioma DOID:13974 DOID:4204 DOID:4208 GARD:8244 ICD10CM:C71.7 ICD9CM:191.7 MESH:D020295 NCI:C3570 NCI:C4869 NCI:C4975 NCI:C5967 SNOMEDCT_US_2023_03_01:126961004 SNOMEDCT_US_2023_03_01:93726004 UMLS_CUI:C0153641 UMLS_CUI:C0677866 UMLS_CUI:C0751886 UMLS_CUI:C1332192 malignant neoplasm of brain stem malignant neoplasm of brainstem neoplasm of adult brain stem neoplasm of brain stem primary brain Stem tumor primary brain stem neoplasm disease_ontology DOID:4203 brain stem cancer DOID:12786 ICD10CM:C71.6 ICD9CM:191.6 MESH:D002528 NCI:C2935 NCI:C3569 SNOMEDCT_US_2023_03_01:126960003 SNOMEDCT_US_2023_03_01:449420002 UMLS_CUI:C0007762 UMLS_CUI:C0153640 cerebellar cancer malignant tumor of Cerebellum disease_ontology DOID:4205 cerebellum cancer A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. NCI:C5969 UMLS_CUI:C1332951 pediatric tumor of Brainstem disease_ontology DOID:4206 childhood brain stem neoplasm A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969 A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. NCI:C5802 UMLS_CUI:C1332973 pediatric Infratentorial tumor disease_ontology DOID:4207 childhood infratentorial neoplasm A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802 NCI:C5295 UMLS_CUI:C1332612 Intraparenchymal Clear cell meningioma of the Brainstem disease_ontology DOID:4209 brainstem intraparenchymal clear cell meningioma An integumentary system disease that is located_in hair. MESH:D006201 NCI:C34656 SNOMEDCT_US_2023_03_01:267862002 UMLS_CUI:C0018500 disease_ontology DOID:421 hair disease An integumentary system disease that is located_in hair. url:http://en.wikipedia.org/wiki/Hair_disease ICDO:9538/1 MESH:D008579 NCI:C4722 SNOMEDCT_US_2023_03_01:134213009 UMLS_CUI:C0431121 disease_ontology DOID:4210 clear cell meningioma A meningioma that affects the posterior cranial fossa. MESH:D008579 NCI:C6775 UMLS_CUI:C1565950 meningioma of the Posterior Cranial Fossa posterior cranial fossa meningioma disease_ontology DOID:4211 posterior fossa meningioma A meningioma that affects the posterior cranial fossa. url:https://pubmed.ncbi.nlm.nih.gov/33814376/ A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. MESH:D001948 NCI:C4270 SNOMEDCT_US_2023_03_01:42194009 UMLS_CUI:C0334495 disease_ontology DOID:4217 malignant ovarian Brenner tumor A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026 A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. MESH:D020914 NCI:C84648 UMLS_CUI:C0752282 disease_ontology DOID:422 congenital structural myopathy A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. url:https://pubmed.ncbi.nlm.nih.gov/23897157/ An endometrial stromal tumor that has_material_basis_in connective tissue. GARD:6339 ICDO:8930/3 MESH:D018203 NCI:C8973 SNOMEDCT_US_2023_03_01:1178986006 UMLS_CUI:C0206630 ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade disease_ontology DOID:4226 endometrial stromal sarcoma An endometrial stromal tumor that has_material_basis_in connective tissue. url:https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. DOID:1374 NCI:C40219 UMLS_CUI:C1519849 uterine corpus endometrial stromal tumor disease_ontology DOID:4227 uterine corpus endometrial stromal sarcoma A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. url:https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/21652246 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. ICD10CM:G72.9 ICD9CM:359.9 MESH:D009135 NCI:C101216 SNOMEDCT_US_2023_03_01:155094005 UMLS_CUI:C0026848 disease_ontology DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness. url:http://en.wikipedia.org/wiki/Myopathy NCI:C6511 UMLS_CUI:C1334620 malignant tumor of Smooth Muscle disease_ontology DOID:4230 smooth muscle cancer ICDO:8831/0 MESH:D051642 NCI:C35765 SNOMEDCT_US_2023_03_01:154614002 UMLS_CUI:C1509147 disease_ontology DOID:4231 histiocytoma A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. NCI:C27293 ORDO:370334 UMLS_CUI:C1333514 extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom disease_ontology DOID:4232 extraosseous Ewing sarcoma A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293 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. DOID:4881 ICDO:9044/3 MESH:D018227 NCI:C27370 NCI:C3745 SNOMEDCT_US_2023_03_01:12622007 UMLS_CUI:C0206651 UMLS_CUI:C1332198 Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues melanoma, malignant, of soft parts disease_ontology malignant melanoma of soft parts DOID:4233 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. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. ICDO:8801/3 MESH:D012509 NCI:C27005 SNOMEDCT_US_2023_03_01:9801004 UMLS_CUI:C0205945 disease_ontology DOID:4235 spindle cell sarcoma 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 A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:1971 DOID:2610 DOID:4234 ICDO:8980/3 MESH:D002296 MESH:D018199 MESH:D018200 NCI:C34448 NCI:C3730 NCI:C8975 SNOMEDCT_US_2023_03_01:112684005 SNOMEDCT_US_2023_03_01:63264007 SNOMEDCT_US_2023_03_01:84427001 UMLS_CUI:C0007140 UMLS_CUI:C0206627 UMLS_CUI:C1334603 MMMT malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor disease_ontology DOID:4236 carcinosarcoma 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 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. DOID:5315 DOID:5318 GARD:5654 ICDO:9581/3 MESH:D018234 NCI:C3750 NCI:C7943 NCI:C8092 OMIM:606243 ORDO:163699 SNOMEDCT_US_2023_03_01:88195001 UMLS_CUI:C0206657 UMLS_CUI:C0279544 UMLS_CUI:C0279985 disease_ontology DOID:4239 OMIM mapping confirmed by DO. [SN]. 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 A kidney cancer that is located in the kidney's connective tissue. NCI:C4525 SNOMEDCT_US_2023_03_01:254918001 UMLS_CUI:C0346251 renal sarcoma sarcoma of kidney disease_ontology DOID:4242 kidney sarcoma 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 MESH:D023921 NCI:C80427 SNOMEDCT_US_2023_03_01:233970002 UMLS_CUI:C0242231 Coronary artery stenosis disease_ontology DOID:4248 coronary stenosis A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GARD:7690 ICD10CM:A81.82 ICD9CM:046.71 MESH:D016098 NCI:C84727 OMIM:137440 SNOMEDCT_US_2023_03_01:67155006 UMLS_CUI:C0017495 Gerstmann-Straussler-Scheinker disease PRION DEMENTIA disease_ontology DOID:4249 OMIM mapping confirmed by DO. [SN]. 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. 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/ An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. ICD10CM:H11.9 ICD9CM:372.9 MESH:D003229 NCI:C27605 SNOMEDCT_US_2023_03_01:194583004 UMLS_CUI:C0009759 disease_ontology DOID:4251 conjunctival disease An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605 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. GARD:5774 MESH:D038261 NCI:C84545 OMIM:203450 SNOMEDCT_US_2023_03_01:81854007 UMLS_CUI:C0270726 Alexander's disease disease_ontology DOID:4252 OMIM mapping confirmed by DO. [SN]. Alexander disease MESH:D038261 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 An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. GARD:9474 MESH:D008557 NCI:C84887 OMIM:155950 SNOMEDCT_US_2023_03_01:240173003 UMLS_CUI:C0025239 disease_ontology DOID:4253 OMIM mapping confirmed by DO. [SN]. melorheostosis MESH:D008557 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/ A bone remodeling disease that results_in abnormal elevated bone density or mass. ICD10CM:Q78.2 MESH:D010026 NCI:C41236 SNOMEDCT_US_2023_03_01:49347007 UMLS_CUI:C0029464 disease_ontology DOID:4254 osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass. url:http://en.wikipedia.org/wiki/Osteosclerosis 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. GARD:1051 ICD10CM:M89.8 MESH:D006958 NCI:C84645 OMIM:114000 SNOMEDCT_US_2023_03_01:24752008 UMLS_CUI:C0020497 cortical congenital hyperostosis infantile cortical hyperostosis disease_ontology DOID:4257 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. ICD10CM:Q87.0 MESH:D010855 NCI:C85010 OMIM:261800 SNOMEDCT_US_2023_03_01:156908005 UMLS_CUI:C0031900 Piere-Robin syndrome Pierre Robin Malformation disease_ontology DOID:4258 Weissenbacher-Zweymuller syndrome 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 A leiomyoma that is located_in the blood vessels. MESH:D018229 NCI:C3747 SNOMEDCT_US_2023_03_01:86959002 UMLS_CUI:C0206653 vascular leiomyoma disease_ontology DOID:4265 angiomyoma MESH:D018229 A leiomyoma that is located_in the blood vessels. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/ NCI:C5355 UMLS_CUI:C1334267 disease_ontology DOID:4266 intravascular angioleiomyoma An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. GARD:3655 ICD10CM:B60.8 MESH:D016881 NCI:C84891 SNOMEDCT_US_2023_03_01:61842000 UMLS_CUI:C0085407 Infection by Microspora Infection by Microsporea Infection by Microsporida disease_ontology DOID:4271 microsporidiosis 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 A basal cell carcinoma that is located_in the penis. NCI:C39961 UMLS_CUI:C1518949 disease_ontology basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma A basal cell carcinoma that is located_in the penis. url:https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html NCI:C6386 UMLS_CUI:C1335934 Basal cell carcinoma of scrotum disease_ontology basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. DOID:4296 NCI:C62282 SNOMEDCT_US_2023_03_01:716274007 UMLS_CUI:C1304300 Basal cell carcinoma, nodular Circumscribed solid basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma skin solid (nodular) Basal cell carcinoma disease_ontology DOID:4280 nodular basal cell carcinoma A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/ A basal cell carcinoma that is located_in the anal margin. ICD10CM:C44.510 NCI:C7473 UMLS_CUI:C1332269 Basal cell carcinoma of Perianal skin disease_ontology basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma A basal cell carcinoma that is located_in the anal margin. url:https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html 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). NCI:C7472 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C0349534 Perianal skin carcinoma disease_ontology carcinoma of anal margin DOID:4284 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). url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. NCI:C4346 sebaceous basal cell carcinoma skin basosebaceous basal cell carcinoma disease_ontology DOID:4286 skin nasal cell carcinoma with sebaceous differentiation A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. url:https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx NCI:C6082 UMLS_CUI:C1333491 Basal cell carcinoma of the External ear disease_ontology basal cell carcinoma of external ear DOID:4287 external ear basal cell carcinoma An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6081 UMLS_CUI:C1333492 carcinoma of the External ear disease_ontology carcinoma of external ear DOID:4288 external ear carcinoma An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. MESH:D006175 NCI:C84743 UMLS_CUI:C0018414 disease_ontology DOID:429 gynatresia A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. url:https://fertilitypedia.org/edu/diagnoses/gynatresia url:https://www.ncbi.nlm.nih.gov/pubmed/22717415 NCI:C7585 SNOMEDCT_US_2023_03_01:402524007 UMLS_CUI:C1304295 Basal cell carcinoma - adamantinoid Melanotic adamantinoma of skin skin adamantinoid basal cell epithelioma disease_ontology DOID:4290 adamantinoid basal cell epithelioma NCI:C4109 SNOMEDCT_US_2023_03_01:254703005 UMLS_CUI:C0346013 Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor disease_ontology DOID:4291 fibroepithelial basal cell carcinoma NCI:C27182 SNOMEDCT_US_2023_03_01:403913006 UMLS_CUI:C0555191 Basal cell carcinoma, morphea Cicatricial basal-cell carcinoma Morphea-type (Sclerosing) Basal cell carcinoma disease_ontology DOID:4292 morpheaform basal cell carcinoma NCI:C27536 UMLS_CUI:C1516599 skin clear cell basal cell carcinoma disease_ontology DOID:4293 clear cell basal cell carcinoma A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. NCI:C27535 skin adenoid basal cell carcinoma disease_ontology DOID:4294 adenoid basal cell carcinoma A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/ A basal cell carcinoma that is characterized by follicular differentiation. NCI:C27538 Skin Follicular Basal Cell Carcinoma follicular (pilar) basal cell carcinoma disease_ontology DOID:4295 follicular basal cell carcinoma A basal cell carcinoma that is characterized by follicular differentiation. url:https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57 A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. ICD10CM:Q26.8 MESH:D012587 NCI:C85056 OMIM:106700 ORDO:185 SNOMEDCT_US_2023_03_01:39905002 UMLS_CUI:C0036400 Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome disease_ontology DOID:4297 scimitar syndrome A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. url:https://en.wikipedia.org/wiki/Scimitar_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/31536209 ICDO:8091/3 NCI:C4108 SNOMEDCT_US_2023_03_01:61098004 UMLS_CUI:C0334256 Multifocal superficial basal cell carcinoma Superficial multicentric basal-cell carcinoma multicentric basal cell carcinoma disease_ontology DOID:4300 superficial basal cell carcinoma A vulva carcinoma that has_material_basis_in basal cells. NCI:C6381 SNOMEDCT_US_2023_03_01:717731002 UMLS_CUI:C1336977 Basal cell carcinoma of Vulva disease_ontology basal cell carcinoma of the vulva DOID:4301 vulva basal cell carcinoma A vulva carcinoma that has_material_basis_in basal cells. url:https://www.ncbi.nlm.nih.gov/pubmed/22935972 NCI:C38111 UMLS_CUI:C1519182 skin sarcomatoid basal cell carcinoma disease_ontology DOID:4303 sarcomatoid basal cell carcinoma NCI:C38110 UMLS_CUI:C1519320 skin signet ring cell basal cell carcinoma disease_ontology DOID:4304 signet ring basal cell carcinoma A benign giant cell tumor that results_in the presence of multinucleated giant cells. MESH:D018212 NCI:C121932 SNOMEDCT_US_2023_03_01:697970009 UMLS_CUI:C0206638 Giant cell neoplasm of bone Giant cell tumor of bone Giant cell tumour of bone bone giant cell tumour disease_ontology giant cell myeloma osteoclastoma DOID:4305 bone giant cell tumor A benign giant cell tumor that results_in the presence of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone A radiculopathy that is present in more than one nerve. MESH:D011128 NCI:C34934 SNOMEDCT_US_2023_03_01:75572007 UMLS_CUI:C0032586 disease_ontology DOID:4307 polyradiculopathy A radiculopathy that is present in more than one nerve. url:https://en.wikipedia.org/wiki/Radiculopathy MESH:D018235 NCI:C3751 SNOMEDCT_US_2023_03_01:75109009 UMLS_CUI:C0206658 disease_ontology DOID:4310 smooth muscle tumor An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. ICD10CM:L12.3 MESH:D016107 NCI:C84690 SNOMEDCT_US_2023_03_01:2772003 UMLS_CUI:C0079293 acquired epidermolysis bullosa disease_ontology DOID:4313 epidermolysis bullosa acquisita An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. url:https://www.nejm.org/doi/full/10.1056/NEJMicm1204895 ICDO:8072/0 NCI:C27518 SNOMEDCT_US_2023_03_01:733894009 UMLS_CUI:C1334362 disease_ontology DOID:4321 large cell acanthoma ICDO:8104/0 MESH:D049309 NCI:C4468 SNOMEDCT_US_2023_03_01:254693008 UMLS_CUI:C0346005 disease_ontology DOID:4322 pilar sheath acanthoma NCI:C27516 SNOMEDCT_US_2023_03_01:733892008 UMLS_CUI:C1333414 disease_ontology DOID:4323 epidermolytic acanthoma NCI:C27517 SNOMEDCT_US_2023_03_01:397188008 UMLS_CUI:C1301270 disease_ontology DOID:4324 acantholytic acanthoma 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. GARD:2035 ICD10CM:A98.4 MESH:D019142 NCI:C36171 SNOMEDCT_US_2023_03_01:123323003 UMLS_CUI:C0282687 Ebola virus disease disease_ontology DOID:4325 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. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, 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. GARD:9444 ICD10CM:A98.3 MESH:D008379 NCI:C84883 SNOMEDCT_US_2023_03_01:123322008 UMLS_CUI:C0024788 Marburg disease Marburg virus disease disease_ontology DOID:4327 Marburg hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, 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 A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. GARD:6369 ICDO:9749/3 MESH:D031249 NCI:C53972 SNOMEDCT_US_2023_03_01:703711007 UMLS_CUI:C0878675 disease_ontology DOID:4329 Erdheim-Chester disease A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. url:https://medlineplus.gov/genetics/condition/erdheim-chester-disease/ url:https://rarediseases.org/rare-diseases/erdheim-chester-disease/ A mouth disease that is characterized by long-lasting burning sensations of the mouth. GARD:5974 MESH:D002054 NCI:C62545 SNOMEDCT_US_2023_03_01:111349000 UMLS_CUI:C0006430 Orodynia Stomatopyrosis disease_ontology DOID:4331 burning mouth syndrome A mouth disease that is characterized by long-lasting burning sensations of the mouth. url:https://pubmed.ncbi.nlm.nih.gov/30189984/ NCI:C7297 UMLS_CUI:C1336066 disease_ontology DOID:4334 splenic manifestation of prolymphocytic leukemia 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 ICD10CM:B35 MESH:D014007 NCI:C35072 SNOMEDCT_US_2023_03_01:85375000 UMLS_CUI:C0040254 favus disease_ontology DOID:4336 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. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/ 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 ICD9CM:110.0 NCI:C34536 SNOMEDCT_US_2023_03_01:186985002 UMLS_CUI:C0011640 Scalp ringworm Trichophyton rubrum tinea capitis dermatophytosis of scalp or beard tinea capitis due to Trichophyton rubrum disease_ontology Dermatophytosis of scalp DOID:4337 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. url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm url:https://drfungus.org/knowledge-base/tinea-capitis/ GARD:7848 MESH:D046350 NCI:C85219 OMIM:176200 SNOMEDCT_US_2023_03_01:58275005 UMLS_CUI:C0162532 Protocoproporphyria Protoporphyrinogen oxidase deficiency disease_ontology DOID:4346 variegate porphyria MESH:D008210 NCI:C78442 SNOMEDCT_US_2023_03_01:234109007 UMLS_CUI:C0024248 Lymph cyst disease_ontology DOID:4347 lymphocele DOID:6352 ICD10CM:C69.4 NCI:C4364 NCI:C4766 SNOMEDCT_US_2023_03_01:126998003 SNOMEDCT_US_2023_03_01:93756008 UMLS_CUI:C0339349 UMLS_CUI:C0496833 malignant neoplasm of ciliary body malignant tumor of ciliary body malignant tumor of the Ciliary body neoplasm of ciliary body tumor of the Ciliary body disease_ontology DOID:4352 ciliary body cancer An iris disease that is located_in the ciliary body. NCI:C35775 SNOMEDCT_US_2023_03_01:68575007 UMLS_CUI:C0271100 disease_ontology DOID:4353 ciliary body disease An iris disease that is located_in the ciliary body. url:https://pubmed.ncbi.nlm.nih.gov/35695216/ ICDO:8730/3 MESH:D018328 NCI:C3802 SNOMEDCT_US_2023_03_01:70594002 UMLS_CUI:C0206735 disease_ontology DOID:4359 amelanotic melanoma ICDO:8771/3 NCI:C4236 SNOMEDCT_US_2023_03_01:37138001 UMLS_CUI:C0334443 epithelioid melanoma disease_ontology DOID:4360 epithelioid cell melanoma A female reproductive organ cancer that is located_in the cervix. DOID:4361 ICD10CM:C53 ICD9CM:180 MESH:D002583 NCI:C2940 NCI:C9311 OMIM:603956 SNOMEDCT_US_2023_03_01:123841004 SNOMEDCT_US_2023_03_01:254885005 UMLS_CUI:C0007847 UMLS_CUI:C0007873 cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm disease_ontology DOID:4362 cervical cancer 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 A breast cancer that arises_from melanocytes. NCI:C8410 SNOMEDCT_US_2023_03_01:188050009 UMLS_CUI:C0346787 breast melanoma malignant melanoma of breast disease_ontology DOID:4364 malignant breast melanoma A breast cancer that arises_from melanocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/15845569 A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. DOID:0090121 GARD:433 MESH:D043204 NCI:C123231 OMIM:218030 ORDO:320 SNOMEDCT_US_2023_03_01:237770005 UMLS_CUI:C0342488 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess disease_ontology DOID:4367 apparent mineralocorticoid excess syndrome A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. url:https://www.omim.org/entry/218030 An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. DOID:443 DOID:444 GARD:7122 ICD10CM:G70.0 ICD10CM:G70.00 ICD9CM:358.0 ICD9CM:358.00 MESH:D009157 NCI:C60989 OMIM:254200 SNOMEDCT_US_2023_03_01:155092009 UMLS_CUI:C0026896 UMLS_CUI:C1260409 disease_ontology DOID:437 OMIM mapping confirmed by DO. [SN]. myasthenia gravis An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. url:https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-Sheet 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. MESH:D021181 NCI:C172313 SNOMEDCT_US_2023_03_01:91930004 UMLS_CUI:C0559469 Allergy to eggs disease_ontology DOID:4377 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. url:http://en.wikipedia.org/wiki/Allergy#Foods ls:IEDB A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. MESH:D021184 NCI:C175521 SNOMEDCT_US_2023_03_01:395654004 UMLS_CUI:C0577620 allergy to nuts nut allergic reaction disease_ontology DOID:4379 nut allergy A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. url:https://en.wikipedia.org/wiki/Tree_nut_allergy An autoimmune disease affecting the nervous system. MESH:D020274 NCI:C99383 UMLS_CUI:C0751871 disease_ontology autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system An autoimmune disease affecting the nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/ url:https://www.ncbi.nlm.nih.gov/pubmed/21619947 An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. NCI:C6247 UMLS_CUI:C1335126 Alveolar Rhabdomyosarcoma of the orbit disease_ontology DOID:4384 orbit alveolar rhabdomyosarcoma An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. url:https://pubmed.ncbi.nlm.nih.gov/31146616/ 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. NCI:C4102 SNOMEDCT_US_2023_03_01:39056008 UMLS_CUI:C0334244 papillary epidermoid carcinoma disease_ontology DOID:4385 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. url:http://www.sciencedirect.com/science/article/pii/S0090825803003299 NCI:C8776 UMLS_CUI:C0855009 osseous peripheral Neuroepithelioma disease_ontology DOID:4388 bone peripheral neuroepithelioma NCI:C27471 UMLS_CUI:C1112437 peripheral Neuroectodermal tumor of soft tissues disease_ontology DOID:4389 soft tissue peripheral neuroepithelioma GARD:12967 MESH:D015616 NCI:C3356 SNOMEDCT_US_2023_03_01:15960008 UMLS_CUI:C0035290 Reticulohistiocytoma solitary reticulohistiocytoma disease_ontology DOID:4394 reticulohistiocytic granuloma NCI:C3505 UMLS_CUI:C0743086 disease_ontology DOID:4397 granulomatous dermatitis ICD10CM:L40.3 MESH:D011565 NCI:C34888 SNOMEDCT_US_2023_03_01:238610005 UMLS_CUI:C0030246 Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles disease_ontology DOID:4398 pustulosis of palm and sole NCI:C35277 UMLS_CUI:C0234894 disease_ontology DOID:4399 acneiform dermatitis A neuropathy that affect the nerves that control the voluntary muscles. ICD10CM:G70.9 ICD9CM:358 MESH:D009468 NCI:C189005 SNOMEDCT_US_2023_03_01:1664005 UMLS_CUI:C0027868 disease_ontology DOID:440 neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles. url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html ICD10CM:L82 MESH:C562379 NCI:C2984 OMIM:125600 SNOMEDCT_US_2023_03_01:254669003 UMLS_CUI:C0011645 disease_ontology DOID:4400 OMIM mapping confirmed by DO. [SN]. dermatosis papulosa nigra MESH:D009783 NCI:C34859 SNOMEDCT_US_2023_03_01:200780008 UMLS_CUI:C0028796 Occupational allergic contact dermatitis Occupational eczema disease_ontology DOID:4404 occupational dermatitis NCI:C27037 SNOMEDCT_US_2023_03_01:23615008 UMLS_CUI:C0262984 disease_ontology DOID:4406 spongiotic dermatitis An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. MESH:D017484 NCI:C4816 SNOMEDCT_US_2023_03_01:53597009 UMLS_CUI:C0162830 Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness disease_ontology DOID:4407 phototoxic dermatitis An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. url:https://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis MESH:D005499 NCI:C94408 SNOMEDCT_US_2023_03_01:156411003 UMLS_CUI:C0016436 disease_ontology DOID:4409 folliculitis A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. NCI:C40239 UMLS_CUI:C0877611 disease_ontology DOID:4413 cervix melanoma A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/25046205 MESH:D018219 NCI:C3739 SNOMEDCT_US_2023_03_01:25889007 UMLS_CUI:C0206644 Fibroxanthoma benign fibrous histiocytoma disease_ontology DOID:4415 fibrous histiocytoma DOID:4417 GARD:9807 MESH:D018219 NCI:C6801 NCI:C7749 SNOMEDCT_US_2023_03_01:254749001 SNOMEDCT_US_2023_03_01:403999006 UMLS_CUI:C0002991 UMLS_CUI:C0346049 Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin disease_ontology DOID:4418 cutaneous fibrous histiocytoma NCI:C6492 SNOMEDCT_US_2023_03_01:128741006 UMLS_CUI:C1266125 disease_ontology DOID:4419 benign deep fibrous histiocytoma NCI:C40035 UMLS_CUI:C1510778 disease_ontology DOID:4422 malignant adenofibroma A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. MESH:D012618 NCI:C85062 OMIM:269600 SNOMEDCT_US_2023_03_01:37821003 UMLS_CUI:C0036489 Sea-blue histiocyte syndrome disease_ontology DOID:4423 OMIM mapping confirmed by DO. [SN]. sea-blue histiocytosis A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. url:https://en.wikipedia.org/wiki/Sea-blue_histiocytosis url:https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. ICDO:9749/1 MESH:D014972 NCI:C3451 SNOMEDCT_US_2023_03_01:71709009 UMLS_CUI:C0043324 Multiple eruptive juvenile xanthogranuloma Naevoxanthoendothelioma Xanthoma neviforme disease_ontology DOID:4424 juvenile xanthogranuloma A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. url:https://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma url:https://www.ncbi.nlm.nih.gov/books/NBK526103/ A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. ICD10CM:F81.0 MESH:D004410 NCI:C96410 OMIM:300509 OMIM:600202 OMIM:604254 OMIM:606616 OMIM:606896 OMIM:608995 SNOMEDCT_US_2023_03_01:154954003 UMLS_CUI:C0476254 disease_ontology DOID:4428 Xref MGI. dyslexia 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 GARD:4900 ICDO:8156/3 MESH:D013005 NCI:C3379 SNOMEDCT_US_2023_03_01:128642005 UMLS_CUI:C0037661 Somatostatin cell neoplasm Somatostatin cell tumour disease_ontology DOID:4430 somatostatinoma NCI:C95595 UMLS_CUI:C1368041 pancreatic Somatostatin cell tumor pancreatic delta cell somatostatin producing neoplasm disease_ontology DOID:4432 pancreatic somatostatinoma NCI:C28396 UMLS_CUI:C1335301 pancreatic Delta cell tumor disease_ontology DOID:4433 pancreatic delta cell neoplasm NCI:C5803 SNOMEDCT_US_2023_03_01:1186805005 UMLS_CUI:C1336005 small Intestine neuroendocrine tumor disease_ontology DOID:4434 small intestine neuroendocrine neoplasm NCI:C5268 UMLS_CUI:C1332865 meningioma of the Cavernous sinus disease_ontology DOID:4435 cavernous sinus meningioma NCI:C5286 UMLS_CUI:C1332301 meningioma of the Anterior Fossa disease_ontology DOID:4436 anterior cranial fossa meningioma NCI:C5272 UMLS_CUI:C1335976 meningioma of the Skull Base disease_ontology DOID:4437 skull base meningioma GARD:2005 NCI:C7009 SNOMEDCT_US_2023_03_01:1156833003 UMLS_CUI:C1333813 germinoma of CNS disease_ontology DOID:4438 central nervous system germinoma A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5461 UMLS_CUI:C1332880 central nervous system germ cell tumour germ cell tumor of the CNS germ cell tumour of the CNS disease_ontology DOID:4439 central nervous system germ cell tumor A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25233069 A germinoma that has_material_basis_in cells that make sperm and eggs. ICDO:9061/3 MESH:D018239 NCI:C9309 SNOMEDCT_US_2023_03_01:443675005 UMLS_CUI:C0036631 Seminoma, Pure disease_ontology DOID:4440 OMIM mapping confirmed by DO. [LS]. seminoma A germinoma that has_material_basis_in cells that make sperm and eggs. url:http://www.cancer.gov/dictionary?CdrID=46577 An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. NCI:C40225 UMLS_CUI:C1516408 disease_ontology DOID:4442 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. url:https://www.ncbi.nlm.nih.gov/pubmed/2479947 MESH:D008269 NCI:C34794 OMIM:153880 SNOMEDCT_US_2023_03_01:193387007 UMLS_CUI:C0024440 disease_ontology DOID:4447 OMIM mapping confirmed by DO. [SN]. cystoid macular edema A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. MESH:D008268 NCI:C123330 ORDO:279 SNOMEDCT_US_2023_03_01:302891003 UMLS_CUI:C0024437 Macular degeneration of retina disease_ontology DOID:4448 Xref MGI. macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom 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 MESH:D008269 NCI:C35468 SNOMEDCT_US_2023_03_01:37231002 UMLS_CUI:C0271051 macular edema macular oedema macular retinal oedema disease_ontology DOID:4449 macular retinal edema GARD:5893 ICD10CM:E26.81 ICD9CM:255.13 MESH:D001477 NCI:C34412 OMIM:PS601678 SNOMEDCT_US_2023_03_01:707742001 UMLS_CUI:C0004775 Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome disease_ontology DOID:445 Bartter disease A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. EFO:0000681 GARD:13215 ICDO:8312/3 MESH:D002292 NCI:C9385 OMIM:300854 ORDO:217071 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C0007134 RCC adenocarcinoma of kidney hypernephroma disease_ontology DOID:4450 Xref MGI. renal cell carcinoma 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 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). NCI:C9384 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C1378703 carcinoma of kidney kidney carcinoma disease_ontology DOID:4451 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). url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma NCI:C6568 UMLS_CUI:C1333001 pediatric renal cell carcinoma disease_ontology DOID:4454 childhood kidney cell carcinoma An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. DOID:12252 ICD10CM:E24 ICD10CM:E26 ICD9CM:255.0 ICD9CM:255.1 MESH:D003480 MESH:D006929 NCI:C113213 NCI:C2969 OMIM:605635 OMIM:613677 ORDO:235936 SNOMEDCT_US_2023_03_01:154705004 SNOMEDCT_US_2023_03_01:88213004 UMLS_CUI:C0010481 UMLS_CUI:C0020428 Cushing syndrome Cushing's syndrome hyperaldosteronism disease_ontology DOID:446 Xref MGI. primary hyperaldosteronism An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. url:https://en.wikipedia.org/wiki/Primary_aldosteronism url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510 NCI:C4524 SNOMEDCT_US_2023_03_01:254916002 UMLS_CUI:C0346249 cystadenocarcinoma of kidney renal cystadenocarcinoma disease_ontology DOID:4463 multilocular clear cell renal cell carcinoma A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. GARD:9573 ICDO:8319/3 MESH:D002292 NCI:C6194 SNOMEDCT_US_2023_03_01:733470002 UMLS_CUI:C1266044 carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type disease_ontology DOID:4464 collecting duct carcinoma A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. url:https://en.wikipedia.org/wiki/Collecting_duct_carcinoma url:https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/26684811 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. DOID:8063 GARD:9572 MESH:C538614 MESH:D002292 NCI:C27890 NCI:C6975 OMIM:605074 SNOMEDCT_US_2023_03_01:4797003 UMLS_CUI:C1306837 UMLS_CUI:C1336078 Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma disease_ontology DOID:4465 OMIM mapping confirmed by DO. [SN]. papillary renal cell carcinoma A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. url:http://cancergenome.nih.gov/cancersselected/kidneypapillary url:http://www.omim.org/entry/605074 A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. GARD:9574 MESH:D002292 NCI:C4033 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C0279702 Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma disease_ontology Clear-cell metastatic renal cell carcinoma DOID:4467 MESH:C538445 added from NeuroDevNet [WAK]. clear cell renal cell carcinoma A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. url:http://www.cancer.gov/dictionary?CdrID=45063 url:https://cancergenome.nih.gov/cancersselected/kidneyclearcell Clear-cell metastatic renal cell carcinoma MESH:C538445 An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. DOID:2617 DOID:4940 ICDO:8310/3 MESH:D008649 MESH:D018262 NCI:C36815 NCI:C4072 NCI:C4156 SNOMEDCT_US_2023_03_01:2221008 SNOMEDCT_US_2023_03_01:30546008 SNOMEDCT_US_2023_03_01:80727009 UMLS_CUI:C0025490 UMLS_CUI:C0206681 UMLS_CUI:C0334322 Mesonephroid Clear cell carcinoma Mesonephroma, malignant Water-clear cell adenocarcinoma Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma disease_ontology DOID:4468 clear cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-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. GARD:6064 MESH:D002292 NCI:C4146 SNOMEDCT_US_2023_03_01:128667008 UMLS_CUI:C1266042 Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell disease_ontology DOID:4471 chromophobe renal cell carcinoma 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.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf url:https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma NCI:C39807 UMLS_CUI:C1513719 disease_ontology DOID:4472 mucinous tubular and spindle renal cell carcinoma MESH:D002292 NCI:C27893 SNOMEDCT_US_2023_03_01:128668003 UMLS_CUI:C1266043 renal cell carcinoma, spindle cell disease_ontology DOID:4473 sarcomatoid renal cell carcinoma MESH:D011546 NCI:C85034 SNOMEDCT_US_2023_03_01:77098009 UMLS_CUI:C0033805 disease_ontology DOID:4479 pseudohypoaldosteronism An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. GARD:8173 ICD10CM:Q77.4 MESH:D000130 NCI:C34345 OMIM:100800 SNOMEDCT_US_2023_03_01:268273004 UMLS_CUI:C0001080 Achondroplastic physique Chondrodystrophia osteosclerosis congenita disease_ontology DOID:4480 OMIM mapping confirmed by DO. [SN]. achondroplasia MESH:D000130 An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the 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.nlm.nih.gov/medlineplus/ency/article/001577.htm url:https://www.genome.gov/Genetic-Disorders/Achondroplasia 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. DOID:12089 DOID:14030 DOID:8241 DOID:8242 EFO:0003956 NCI:C34987 OMIM:607154 SNOMEDCT_US_2023_03_01:38103000 UMLS_CUI:C0002103 Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis disease_ontology DOID:4481 allergic rhinitis MESH:D065631 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. url:http://en.wikipedia.org/wiki/Allergic_rhinitis url:http://en.wikipedia.org/wiki/Rhinitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis ls:IEDB 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. MESH:D012220 NCI:C34986 SNOMEDCT_US_2023_03_01:70076002 UMLS_CUI:C0035455 disease_ontology DOID:4483 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. url:http://en.wikipedia.org/wiki/Rhinitis NCI:C4282 SNOMEDCT_US_2023_03_01:30383009 UMLS_CUI:C0334515 Mesothelioma, biphasic, malignant mixed Mesothelioma disease_ontology DOID:4486 malignant biphasic mesothelioma NCI:C45655 SNOMEDCT_US_2023_03_01:54443001 UMLS_CUI:C0334513 malignant fibrous mesothelioma spindled mesothelioma disease_ontology DOID:4488 sarcomatoid mesothelioma NCI:C7985 SNOMEDCT_US_2023_03_01:65278006 UMLS_CUI:C0862312 disease_ontology DOID:4489 malignant epithelial mesothelioma A muscular dystrophy that is characterized by progressive muscle wasting and weakness. ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 NCI:C84913 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:450 myotonic disease MESH:D009223 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 NCI:C34939 UMLS_CUI:C1514284 hypopotassemia potassium deficiency disorder disease_ontology DOID:4500 hypokalemia A central nervous system sarcoma that is located_in the inner lining of blood vessels. NCI:C5450 UMLS_CUI:C1332875 hemangiosarcoma of the CNS disease_ontology DOID:4504 central nervous system angiosarcoma 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 An angiosarcoma that affects children. NCI:C9174 UMLS_CUI:C0279988 paediatric angiosarcoma paediatric hemangiosarcoma pediatric angiosarcoma pediatric hemangiosarcoma disease_ontology DOID:4505 childhood angiosarcoma An angiosarcoma that affects children. url:http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ An angiosarcoma that is located_in the aorta. NCI:C5376 UMLS_CUI:C1332312 Aortic hemangiosarcoma disease_ontology DOID:4510 aorta angiosarcoma An angiosarcoma that is located_in the aorta. url:https://academic.oup.com/icvts/article/6/6/832/649705 url:https://pubmed.ncbi.nlm.nih.gov/34238080/ 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. MESH:C536368 NCI:C5184 UMLS_CUI:C1332614 hemangiosarcoma of the breast disease_ontology DOID:4511 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. url:http://breastcancer.about.com/od/types/p/angiosarcoma.htm NCI:C9426 UMLS_CUI:C1333155 disease_ontology DOID:4512 conventional angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. NCI:C5840 UMLS_CUI:C1333742 hemangiosarcoma of gallbladder disease_ontology DOID:4513 gallbladder angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/15861270 A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. NCI:C6043 UMLS_CUI:C1336748 hemangiosarcoma of the Thyroid disease_ontology DOID:4514 thyroid angiosarcoma A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. url:http://www.pathologyoutlines.com/thyroid.html A thyroid gland cancer that is located_in the supporting cells of the thyroid. NCI:C6041 UMLS_CUI:C1336756 sarcoma of the Thyroid gland disease_ontology DOID:4515 thyroid sarcoma A thyroid gland 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 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. NCI:C4489 SNOMEDCT_US_2023_03_01:254794007 UMLS_CUI:C0346081 angiosarcoma of skin hemangiosarcoma of the skin disease_ontology DOID:4517 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. url:http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 A gastrointestinal system benign neoplasm that is a located_in the salivary glands. ICDO:8940/0 MESH:D008949 NCI:C35691 OMIM:181030 SNOMEDCT_US_2023_03_01:8360001 UMLS_CUI:C0026277 mixed tumor of the Salivary gland disease_ontology DOID:452 pleomorphic adenoma A gastrointestinal system benign neoplasm that is a located_in the salivary glands. url:http://en.wikipedia.org/wiki/Pleomorphic_adenoma A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C40220 UMLS_CUI:C3642326 endometrial stromal sarcoma of the cervix disease_ontology DOID:4520 cervical endometrial stromal sarcoma A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/22986788 A cervical cancer that derives_from the fibrous connective tissue of the endometrium. NCI:C40218 UMLS_CUI:C4289586 disease_ontology DOID:4521 cervix endometrial stromal tumor A cervical cancer that derives_from the fibrous connective tissue of the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/17619891 NCI:C5378 UMLS_CUI:C1336530 angiosarcoma of the Superior Vena Cava disease_ontology DOID:4522 superior vena cava angiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5528 UMLS_CUI:C1335504 Prostatic hemangiosarcoma disease_ontology DOID:4524 prostate angiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. url:http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6613 UMLS_CUI:C1334649 hemangiosarcoma of mediastinum disease_ontology DOID:4525 mediastinum angiosarcoma An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/ An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. NCI:C5232 UMLS_CUI:C1335152 hemangiosarcoma of Ovary disease_ontology DOID:4527 ovarian angiosarcoma An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/24520828 A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. GARD:10671 ICDO:8430/3 MESH:D018277 NCI:C3772 SNOMEDCT_US_2023_03_01:4079000 UMLS_CUI:C0206694 MEC disease_ontology DOID:4531 mucoepidermoid carcinoma A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A syndrome that affects growth, cranial development, hair growth and dental development. GARD:288 MESH:D006210 NCI:C84746 OMIM:234100 ORDO:2108 SNOMEDCT_US_2023_03_01:7903009 UMLS_CUI:C0018522 Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome disease_ontology DOID:4534 OMIM mapping confirmed by DO. [SN]. Hallermann-Streiff syndrome A syndrome that affects growth, cranial development, hair growth and dental development. url:http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome An agnosia that involves a severe problem with recalling words or names. MESH:D000849 NCI:C34386 SNOMEDCT_US_2023_03_01:10325006 UMLS_CUI:C0003113 Anomic aphasia anomia disease_ontology DOID:4541 nominal aphasia An agnosia that involves a severe problem with recalling words or names. url:http://en.wikipedia.org/wiki/Nominal_aphasia ICDO:8300/0 MESH:D000237 NCI:C2856 SNOMEDCT_US_2023_03_01:9436005 UMLS_CUI:C0001431 Pituitary gland Basophilic adenoma disease_ontology DOID:4542 basophil adenoma An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. ICD10CM:R41.2 MESH:D000648 NCI:C34372 SNOMEDCT_US_2023_03_01:51921000 UMLS_CUI:C0002624 disease_ontology DOID:4543 retrograde amnesia An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. url:http://en.wikipedia.org/wiki/Amnesia ICDO:9240/3 MESH:D018211 NCI:C3737 SNOMEDCT_US_2023_03_01:56565002 UMLS_CUI:C0206637 disease_ontology DOID:4545 mesenchymal chondrosarcoma NCI:C27374 UMLS_CUI:C1332982 pediatric mesenchymal chondrosarcoma disease_ontology DOID:4546 childhood mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. NCI:C27375 UMLS_CUI:C1332207 disease_ontology DOID:4547 adult mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. url:http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html NCI:C27481 SNOMEDCT_US_2023_03_01:404080006 UMLS_CUI:C1275279 mesenchymal extraosseous chondrosarcoma disease_ontology DOID:4548 extraskeletal mesenchymal chondrosarcoma A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. DOID:6496 ICDO:9231/3 MESH:C563195 NCI:C27502 OMIM:612237 SNOMEDCT_US_2023_03_01:404079008 UMLS_CUI:C1275278 Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma disease_ontology DOID:4549 nomenclature update. extraskeletal myxoid chondrosarcoma A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. url:https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma url:https://pubmed.ncbi.nlm.nih.gov/10564384/ url:https://www.ncbi.nlm.nih.gov/pubmed/16084955 MESH:D001005 NCI:C2877 SNOMEDCT_US_2023_03_01:126849006 UMLS_CUI:C0003463 anal neoplasm anal tumors neoplasm of anus disease_ontology DOID:4551 anus benign neoplasm A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. ICDO:8012/3 MESH:D018287 NCI:C3780 SNOMEDCT_US_2023_03_01:22687000 UMLS_CUI:C0206704 disease_ontology DOID:4552 large cell carcinoma A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C6461 UMLS_CUI:C1334364 large cell carcinoma of the Thymus disease_ontology DOID:4553 thymus large cell carcinoma NCI:C7612 SNOMEDCT_US_2023_03_01:15949004 UMLS_CUI:C1322286 Thymoma, type C disease_ontology DOID:4554 type C thymoma An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. NCI:C5238 UMLS_CUI:C1335174 Non-small-cell type neuroendocrine carcinoma of Ovary disease_ontology DOID:4555 ovarian large-cell neuroendocrine carcinoma An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/ NCI:C4450 SNOMEDCT_US_2023_03_01:254629004 UMLS_CUI:C0345958 large cell carcinoma of lung large cell lung carcinoma disease_ontology DOID:4556 lung large cell carcinoma 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. ICD10CM:B77 ICD9CM:127.0 MESH:D001196 NCI:C128392 SNOMEDCT_US_2023_03_01:2435008 UMLS_CUI:C0003950 Ascariasis - roundworm disease_ontology Ascaris lumbricoides infection DOID:456 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. 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 An endometritis that is present for weeks or more and does not have an identifiable causative organism. NCI:C27625 UMLS_CUI:C1335061 disease_ontology DOID:4560 non specific chronic endometritis An endometritis that is present for weeks or more and does not have an identifiable causative organism. url:https://www.ncbi.nlm.nih.gov/pubmed/9653909 An endometritis that is characterized by the presence of granulomas in the uterus. NCI:C27626 UMLS_CUI:C1333876 disease_ontology DOID:4561 granulomatous endometritis An endometritis that is characterized by the presence of granulomas in the uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/1326899 MESH:D004698 NCI:C34583 SNOMEDCT_US_2023_03_01:155334001 UMLS_CUI:C0014122 Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute endocarditis, lenta disease_ontology DOID:4562 subacute bacterial endocarditis NCI:C4719 SNOMEDCT_US_2023_03_01:253082002 UMLS_CUI:C0431118 Choroid meningioma meningioma of the Choroid Plexus disease_ontology DOID:4584 choroid plexus meningioma MESH:C537443 NCI:C5301 UMLS_CUI:C1333989 disease_ontology DOID:4586 OMIM mapping confirmed by DO. [SN]. familial meningioma MESH:D008579 NCI:C4055 SNOMEDCT_US_2023_03_01:1157019008 UMLS_CUI:C0281784 meningioma, benign disease_ontology DOID:4587 benign meningioma MESH:D008579 NCI:C4718 SNOMEDCT_US_2023_03_01:253081009 UMLS_CUI:C1384406 disease_ontology DOID:4588 secretory meningioma NCI:C4720 SNOMEDCT_US_2023_03_01:19453003 UMLS_CUI:C0431119 Lymphoplasmocyte-rich meningioma disease_ontology DOID:4591 lymphoplasmacyte-rich meningioma NCI:C8264 UMLS_CUI:C0280656 pediatric meningioma disease_ontology DOID:4593 childhood meningioma MESH:D008579 NCI:C4721 SNOMEDCT_US_2023_03_01:253084001 UMLS_CUI:C1384408 disease_ontology DOID:4594 microcystic meningioma An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. ICD10CM:Q80.3 MESH:D017488 NCI:C62569 OMIM:PS113800 SNOMEDCT_US_2023_03_01:20512000 UMLS_CUI:C0079153 Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis disease_ontology DOID:4603 epidermolytic hyperkeratosis An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. url:https://dermnetnz.org/topics/epidermolytic-ichthyosis url:https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/ A biliary tract cancer that is located_in the bile duct. DOID:10019 ICD10CM:C24.0 ICD9CM:156.1 MESH:D001650 NCI:C2898 NCI:C7483 SNOMEDCT_US_2023_03_01:93790004 UMLS_CUI:C0005396 UMLS_CUI:C0153453 Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct disease_ontology DOID:4606 bile duct cancer A biliary tract cancer that is located_in the bile duct. url:http://www.cancer.gov/dictionary/?CdrID=527370 DOID:2692 MESH:D009379 MESH:D019042 NCI:C4063 SNOMEDCT_US_2023_03_01:115228006 UMLS_CUI:C0027664 UMLS_CUI:C0282606 Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle disease_ontology DOID:461 muscle benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine. MESH:D007414 NCI:C3141 SNOMEDCT_US_2023_03_01:126769007 UMLS_CUI:C0021841 intestinal tumors intestine growth neoplasm of intestinal tract disease_ontology DOID:4610 intestinal benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine. url:http://en.wikipedia.org/wiki/Benign_tumor 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. GARD:6665 ICD10CM:Q04.2 MESH:D016142 NCI:C74988 OMIM:PS236100 ORDO:2162 SNOMEDCT_US_2023_03_01:30915001 UMLS_CUI:C0079541 Holoprosencephaly sequence disease_ontology DOID:4621 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Holoprosencephaly url:http://www.ncbi.nlm.nih.gov/books/NBK1530/ 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. GARD:7251 ICD10CM:Q78.4 MESH:D004687 NCI:C3213 OMIM:166000 ORDO:296 SNOMEDCT_US_2023_03_01:46041001 UMLS_CUI:C0024454 DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS disease_ontology DOID:4624 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Ollier_disease url:http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx GARD:6681 ICD10CM:Q04.3 MESH:D006832 NCI:C98949 SNOMEDCT_US_2023_03_01:30023002 UMLS_CUI:C0020225 disease_ontology DOID:4626 hydranencephaly NCI:C8194 UMLS_CUI:C0280336 Inverting papilloma of the nasal cavity disease_ontology DOID:4633 nasal cavity inverting papilloma NCI:C27016 SNOMEDCT_US_2023_03_01:15170009 UMLS_CUI:C0235591 submandibular lymphadenitis disease_ontology DOID:4636 submandibular adenitis NCI:C26937 SNOMEDCT_US_2023_03_01:3502005 UMLS_CUI:C0149642 cervical lymphadenitis disease_ontology DOID:4637 cervical adenitis NCI:C27332 UMLS_CUI:C0919638 disease_ontology DOID:4638 postauricular lymphadenitis NCI:C27135 SNOMEDCT_US_2023_03_01:48573006 UMLS_CUI:C0392051 Suppurative lymphadenopathy disease_ontology DOID:4639 suppurative lymphadenitis NCI:C27333 UMLS_CUI:C0919797 disease_ontology DOID:4640 axillary adenitis An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. GARD:10752 ICD10CM:Q81.0 MESH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 ORDO:304 SNOMEDCT_US_2023_03_01:205585003 UMLS_CUI:C0079298 disease_ontology DOID:4644 epidermolysis bullosa simplex An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes DOID:770 ICD10CM:C69.2 ICD9CM:190.5 MESH:D019572 NCI:C3216 NCI:C4800 SNOMEDCT_US_2023_03_01:127002001 SNOMEDCT_US_2023_03_01:93987004 UMLS_CUI:C0024622 UMLS_CUI:C0524801 Retinal tumor malignant Retinal neoplasm malignant neoplasm of retina malignant tumor of retina neoplasm of retina disease_ontology DOID:4645 retinal cancer MESH:D012175 NCI:C8495 UMLS_CUI:C0751483 Hereditary Retinoblastoma disease_ontology DOID:4648 familial retinoblastoma A retinoblastoma that develops in both eyes. NCI:C8713 UMLS_CUI:C0854914 disease_ontology DOID:4650 bilateral retinoblastoma A retinoblastoma that develops in both eyes. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that effects only one eye. NCI:C8714 UMLS_CUI:C0854915 disease_ontology DOID:4651 unilateral retinoblastoma A retinoblastoma that effects only one eye. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. NCI:C7846 UMLS_CUI:C0278717 disease_ontology DOID:4653 intraocular retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. url:https://www.ncbi.nlm.nih.gov/pubmed/28620731 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. NCI:C7848 UMLS_CUI:C0278719 disease_ontology DOID:4656 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. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 ICD10CM:D47.09 NCI:C9303 SNOMEDCT_US_2023_03_01:134333006 UMLS_CUI:C0024897 disease_ontology DOID:4658 benign mastocytoma ICD10CM:D47.09 MESH:D034801 NCI:C7136 SNOMEDCT_US_2023_03_01:63175003 UMLS_CUI:C0272202 disease_ontology DOID:4659 extracutaneous mastocytoma ICD10CM:D47.02 ICDO:9741/1 MESH:D034721 NCI:C9286 SNOMEDCT_US_2023_03_01:70910003 UMLS_CUI:C0272203 ISM disease_ontology DOID:4660 indolent systemic mastocytosis A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. MESH:D013786 NCI:C85186 UMLS_CUI:C0039726 disease_ontology DOID:4662 thalamic disease A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. url:https://en.wikipedia.org/wiki/Thalamus ICDO:9122/0 NCI:C4296 SNOMEDCT_US_2023_03_01:56468002 UMLS_CUI:C0334532 disease_ontology DOID:467 venous hemangioma A disorder of sexual developement that is characterized by the 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. DOID:4672 GARD:5803 ICD10CM:E34.5 ICD9CM:259.51 MESH:D013734 NCI:C27226 OMIM:300068 ORDO:754 SNOMEDCT_US_2023_03_01:12313004 UMLS_CUI:C0039585 Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization disease_ontology DOID:4674 OMIM mapping confirmed by DO. [SN]. androgen insensitivity syndrome MESH:D013734 A disorder of sexual developement that is characterized by the 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:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1429/ NCI:C27055 SNOMEDCT_US_2023_03_01:11659006 UMLS_CUI:C0268708 disease_ontology DOID:4675 uremic neuropathy A corneal disease that is characterized by inflammation of the cornea. ICD10CM:H16 ICD9CM:370 MESH:D007634 NCI:C26805 SNOMEDCT_US_2023_03_01:193757003 UMLS_CUI:C0022568 disease_ontology DOID:4677 keratitis A corneal disease that is characterized by inflammation of the cornea. url:http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 A mucoepidermoid carcinoma located_in the thymus. NCI:C6457 UMLS_CUI:C1334814 Mucoepidermoid carcinoma of the Thymus disease_ontology DOID:4678 thymus mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the thymus. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. NCI:C5166 UMLS_CUI:C1334813 Mucoepidermoid carcinoma of the breast disease_ontology mucoepidermoid carcinoma of breast DOID:4679 breast mucoepidermoid carcinoma A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/ ICDO:9132/0 MESH:D006391 NCI:C3699 SNOMEDCT_US_2023_03_01:54249004 UMLS_CUI:C0205789 Intramuscular Angioma disease_ontology DOID:468 intramuscular hemangioma A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. GARD:10804 ICDO:8575/3 NCI:C5164 SNOMEDCT_US_2023_03_01:763479005 UMLS_CUI:C1334708 Metaplastic carcinoma of the breast disease_ontology metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. url:http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/ A mucoepidermoid carcinoma located_in a bile duct. NCI:C5862 UMLS_CUI:C1332552 Mucoepidermoid carcinoma of the bile duct disease_ontology DOID:4681 bile duct mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in a bile duct. url:https://pubmed.ncbi.nlm.nih.gov/35140960/ url:https://pubmed.ncbi.nlm.nih.gov/35697621/ A cholangiocarcinoma that arises from the extrahepatic bile ducts. NCI:C3860 SNOMEDCT_US_2023_03_01:372101000 UMLS_CUI:C0238019 carcinoma of extrahepatic bile duct extrahepatic bile duct cancer disease_ontology DOID:4682 extrahepatic bile duct carcinoma A cholangiocarcinoma that arises from the extrahepatic bile ducts. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer NCI:C4472 SNOMEDCT_US_2023_03_01:254713002 UMLS_CUI:C0346019 Mucoepidermoid carcinoma of skin Mucoepidermoid skin carcinoma disease_ontology DOID:4683 cutaneous mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the lacrimal gland. NCI:C6091 UMLS_CUI:C1334359 Mucoepidermoid carcinoma of the lacrimal gland disease_ontology DOID:4685 lacrimal gland mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the lacrimal gland. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html NCI:C5343 UMLS_CUI:C1333461 Mucoepidermoid carcinoma of the esophagus disease_ontology DOID:4686 mucoepidermoid esophageal carcinoma A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. NCI:C38762 UMLS_CUI:C1513721 mucoepidermoid thyroid carcinoma disease_ontology DOID:4687 thyroid gland mucoepidermoid carcinoma A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762 A mucoepidermoid carcinoma located_in the larynx. NCI:C9463 UMLS_CUI:C1334373 Mucoepidermoid carcinoma of Larynx disease_ontology DOID:4688 laryngeal mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the larynx. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html NCI:C6555 UMLS_CUI:C1333265 disease_ontology DOID:469 deep angioma NCI:C5429 UMLS_CUI:C1332981 childhood mediastinal neurogenic tumour paediatric neurogenic tumour of mediastinum pediatric neurogenic tumor of mediastinum disease_ontology DOID:4690 childhood mediastinal neurogenic tumor A mediastinal cancer that has_material_basis_in neural cells. NCI:C6624 UMLS_CUI:C1334672 neurogenic tumor of mediastinum disease_ontology DOID:4691 malignant mediastinal neurogenic neoplasm A mediastinal cancer that has_material_basis_in neural cells. url:https://www.ncbi.nlm.nih.gov/pubmed/11154721 A globe disease that is characterized by inflammation of the inside of the eye. MESH:D009877 NCI:C34586 SNOMEDCT_US_2023_03_01:1847009 UMLS_CUI:C0014236 disease_ontology DOID:4692 endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye. url:http://en.wikipedia.org/wiki/Endophthalmitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis url:https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis NCI:C5822 UMLS_CUI:C1334945 neural Plexus tumors disease_ontology DOID:4693 nerve plexus neoplasm GARD:10921 NCI:C6911 SNOMEDCT_US_2023_03_01:768934004 UMLS_CUI:C1370658 disease_ontology DOID:4696 intraneural perineurioma DOID:8371 GARD:12698 ICDO:9571/0 MESH:D018317 NCI:C4973 NCI:C6912 SNOMEDCT_US_2023_03_01:128795001 SNOMEDCT_US_2023_03_01:404036006 UMLS_CUI:C0751691 UMLS_CUI:C1370657 soft tissue Perineurioma disease_ontology DOID:4697 perineurioma NCI:C5119 UMLS_CUI:C1334946 tumor of nerve Root disease_ontology DOID:4698 nerve root neoplasm DOID:14537 NCI:C5347 SNOMEDCT_US_2023_03_01:126733004 SNOMEDCT_US_2023_03_01:93782004 UMLS_CUI:C0346610 UMLS_CUI:C1290403 Epicardial tumor malignant Epicardial tumor malignant neoplasm of epicardium disease_ontology DOID:4699 epicardium cancer ICD10CM:N42.9 ICD9CM:602.9 MESH:D011469 NCI:C26865 SNOMEDCT_US_2023_03_01:30281009 UMLS_CUI:C0033575 disease_ontology DOID:47 prostate disease ICDO:9142/0 NCI:C4299 SNOMEDCT_US_2023_03_01:20985003 UMLS_CUI:C0334540 disease_ontology DOID:470 verrucous keratotic hemangioma MESH:D049328 NCI:C3945 SNOMEDCT_US_2023_03_01:40467008 UMLS_CUI:C0265985 Mongolian Macula disease_ontology DOID:4702 mongolian spot A brain cancer that is located_in the infratentorial region. DOID:4789 ICD10CM:C71.7 MESH:D015192 NCI:C3139 NCI:C4966 UMLS_CUI:C0021432 UMLS_CUI:C0751593 brain neoplasm, Infratentorial malignant Infratentorial tumors disease_ontology DOID:4706 infratentorial cancer 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 NCI:C5423 UMLS_CUI:C1332923 tumor of the Cervicomedullary Junction disease_ontology DOID:4707 cervicomedullary junction neoplasm NCI:C5280 UMLS_CUI:C1333630 meningioma of the Foramen Magnum disease_ontology DOID:4708 foramen magnum meningioma NCI:C4905 SNOMEDCT_US_2023_03_01:254773009 UMLS_CUI:C0687140 Angioma of the skin Angiomatous naevus of skin disease_ontology DOID:471 skin hemangioma NCI:C5696 SNOMEDCT_US_2023_03_01:721194008 UMLS_CUI:C1333783 neuroendocrine tumor of the stomach disease_ontology DOID:4715 gastric neuroendocrine neoplasm DOID:6949 NCI:C6448 UMLS_CUI:C1333769 germ cell tumor of the stomach germ cell tumour of the stomach malignant gastric germ cell tumour disease_ontology DOID:4716 malignant gastric germ cell tumor 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:5839 NCI:C3918 NCI:C8881 UMLS_CUI:C0262963 UMLS_CUI:C1334581 extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell disease_ontology tumor of extragonadal germ cell DOID:4717 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. url:http://tcrc.acor.org/egc.html url:http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell A malignant giant cell tumor that is composed_of multinucleated giant cells. NCI:C4304 SNOMEDCT_US_2023_03_01:10069009 UMLS_CUI:C0334552 Giant cell sarcoma of the bone Giant cell tumor of bone, malignant disease_ontology DOID:4719 bone giant cell sarcoma A malignant giant cell tumor that is composed_of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone NCI:C6026 UMLS_CUI:C1336518 hemangioma of the Subglottis disease_ontology DOID:472 subglottic angioma 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. ICD10CM:J30.0 MESH:D012223 NCI:C34988 SNOMEDCT_US_2023_03_01:155537009 UMLS_CUI:C0035460 disease_ontology DOID:4730 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. url:http://en.wikipedia.org/wiki/Rhinitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis GARD:5980 MESH:D002115 NCI:C84607 SNOMEDCT_US_2023_03_01:237900002 UMLS_CUI:C0006666 disease_ontology DOID:4734 calciphylaxis 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 ICD10CM:F45 ICD10CM:F45.0 ICD9CM:300.8 ICD9CM:300.81 MESH:D013001 NCI:C34956 SNOMEDCT_US_2023_03_01:192430009 SNOMEDCT_US_2023_03_01:60368009 UMLS_CUI:C0037650 UMLS_CUI:C0520482 physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder disease_ontology DOID:4737 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. url:http://en.wikipedia.org/wiki/Somatoform_disorder A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. NCI:C39953 UMLS_CUI:C1515281 disease_ontology DOID:4739 testicular Brenner tumor A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/ MESH:D006391 NCI:C4298 SNOMEDCT_US_2023_03_01:253054009 UMLS_CUI:C0205788 Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma disease_ontology DOID:474 histiocytoid hemangioma A mixed germ cell cancer that is located_in the testis. NCI:C6347 UMLS_CUI:C1336720 mixed germ cell tumor of testis mixed germ cell tumour of testis mixed testicular germ cell tumour disease_ontology DOID:4743 mixed testicular germ cell tumor A mixed germ cell cancer that is located_in the testis. url:http://en.wikipedia.org/wiki/Germ_cell_tumor A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. ICD10CM:O43.21 MESH:D010921 NCI:C26856 SNOMEDCT_US_2023_03_01:70129008 UMLS_CUI:C0032044 disease_ontology DOID:4744 placenta accreta 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 NCI:C5586 UMLS_CUI:C1334757 meningioma of the middle Cranial Fossa disease_ontology DOID:4749 middle cranial fossa meningioma ICD10CM:G23.2 MESH:D020955 NCI:C125695 OMIM:271930 OMIM:500003 OMIM:609161 SNOMEDCT_US_2023_03_01:29618004 UMLS_CUI:C0270733 disease_ontology DOID:4751 OMIM mapping confirmed by DO. [LS]. striatonigral degeneration DOID:11510 GARD:7079 MESH:D012791 MESH:D019578 NCI:C84909 SNOMEDCT_US_2023_03_01:16576004 SNOMEDCT_US_2023_03_01:230297002 UMLS_CUI:C0037019 UMLS_CUI:C0393571 Shy-Drager syndrome disease_ontology DOID:4752 OMIM mapping confirmed by DO. [LS]. multiple system atrophy DOID:6021 NCI:C39942 NCI:C6356 SNOMEDCT_US_2023_03_01:67871000119105 UMLS_CUI:C0863027 UMLS_CUI:C1515288 testicular Leydig cell neoplasm disease_ontology DOID:4756 testicular Leydig cell tumor A sex cord-gonadal stromal tumor that is located_in the testis. NCI:C39948 UMLS_CUI:C1515289 Sex Cord-Stromal tumor of testis disease_ontology DOID:4757 testicular sex cord-stromal neoplasm A sex cord-gonadal stromal tumor that is located_in the testis. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.10e&code=C6358&ns=ncit&type=relationship&key=null&b=1&n=0&vse=null A breast benign neoplasm that is characterized by a collection of excess blood vessels. NCI:C5353 UMLS_CUI:C0853715 Angioma of the breast hemangioma of breast disease_ontology DOID:476 breast hemangioma A breast benign neoplasm that is characterized by a collection of excess blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/22434703 A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. ICDO:8972/3 MESH:D018202 NCI:C3732 SNOMEDCT_US_2023_03_01:189815007 UMLS_CUI:C0206629 Blastoma of lung disease_ontology DOID:4765 pulmonary blastoma A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. url:http://www.cancer.gov/dictionary/?CdrID=446557 A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. NCI:C8997 SNOMEDCT_US_2023_03_01:86049000 UMLS_CUI:C0936282 Blastoma disease_ontology DOID:4766 embryoma 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 NCI:C36054 UMLS_CUI:C1332556 disease_ontology DOID:4767 classic pulmonary blastoma NCI:C36053 UMLS_CUI:C1333420 disease_ontology DOID:4768 epithelial predominant pulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. GARD:8757 ICDO:8973/3 MESH:C537516 NCI:C5669 ORDO:64742 SNOMEDCT_US_2023_03_01:707670009 UMLS_CUI:C1266144 disease_ontology DOID:4769 pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. url:https://www.ncbi.nlm.nih.gov/pubmed/30480950 A kidney cancer that is characterized by the presence of fibroblastic cells. DOID:4772 GARD:1493 MESH:D018201 NCI:C6569 UMLS_CUI:C1332965 disease_ontology DOID:4773 congenital mesoblastic nephroma A kidney cancer that is characterized by the presence of fibroblastic cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/ ICD10CM:N01 NCI:C35264 SNOMEDCT_US_2023_03_01:45406000 UMLS_CUI:C0221239 disease_ontology DOID:4776 rapidly progressive glomerulonephritis NCI:C35706 SNOMEDCT_US_2023_03_01:1162266005 UMLS_CUI:C0546345 disease_ontology DOID:4777 exudative glomerulonephritis NCI:C35281 SNOMEDCT_US_2023_03_01:441815006 UMLS_CUI:C0235618 disease_ontology DOID:4778 proliferative glomerulonephritis NCI:C35707 UMLS_CUI:C0238143 disease_ontology DOID:4779 focal embolic glomerulonephritis A Goodpasture syndrome that is characterized by damage to only kidney capillaries. NCI:C35798 UMLS_CUI:C1332309 anti-GBM glomerulonephritis disease_ontology DOID:4780 anti-basement membrane glomerulonephritis A Goodpasture syndrome that is characterized by damage to only kidney capillaries. url:https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/ NCI:C35799 UMLS_CUI:C0859036 disease_ontology DOID:4781 diffuse glomerulonephritis NCI:C35801 SNOMEDCT_US_2023_03_01:123609007 UMLS_CUI:C1263744 disease_ontology DOID:4782 subacute glomerulonephritis GARD:9580 NCI:C35445 SNOMEDCT_US_2023_03_01:35546006 UMLS_CUI:C0221238 disease_ontology DOID:4783 mesangial proliferative glomerulonephritis NCI:C35800 SNOMEDCT_US_2023_03_01:123752003 UMLS_CUI:C0744421 Immune Complex Glomerulonephritis disease_ontology DOID:4784 immune-complex glomerulonephritis NCI:C5436 UMLS_CUI:C1332904 Cerebellopontine Angle PNET disease_ontology DOID:4787 cerebellopontine angle primitive neuroectodermal tumor NCI:C5817 UMLS_CUI:C1334246 intracranial PNET disease_ontology DOID:4788 intracranial primitive neuroectodermal tumor DOID:665 ICDO:9141/0 MESH:D000794 NCI:C2874 NCI:C4488 SNOMEDCT_US_2023_03_01:254788004 SNOMEDCT_US_2023_03_01:26810009 UMLS_CUI:C0002985 UMLS_CUI:C0346075 Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma disease_ontology DOID:479 angiokeratoma ICDO:9501/3 MESH:D018242 NCI:C66808 SNOMEDCT_US_2023_03_01:715903004 UMLS_CUI:C0334596 Diktyoma, malignant Medulloepithelioma, central nervous system disease_ontology DOID:4790 medulloepithelioma GARD:7366 NCI:C6968 SNOMEDCT_US_2023_03_01:699318007 UMLS_CUI:C1336538 Supratentorial PNET disease_ontology DOID:4791 supratentorial primitive neuroectodermal tumor A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. MESH:D049290 NCI:C133084 OMIM:272750 SNOMEDCT_US_2023_03_01:71253000 UMLS_CUI:C0268275 Tay-Sachs disease AB variant Tay-Sachs disease, variant AB disease_ontology DOID:4795 OMIM mapping confirmed by DO. [SN]. GM2 gangliosidosis, AB variant A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. url:https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant NCI:C9284 SNOMEDCT_US_2023_03_01:397357000 UMLS_CUI:C1301365 systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease disease_ontology DOID:4797 SM-AHNMD ICD10CM:C96.21 MESH:D034721 NCI:C9285 SNOMEDCT_US_2023_03_01:716655008 UMLS_CUI:C1112486 ASM Lymphadenopathic mastocytosis with eosinophilia disease_ontology DOID:4798 aggressive systemic mastocytosis A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. MESH:D009069 NCI:C116757 SNOMEDCT_US_2023_03_01:60342002 UMLS_CUI:C0026650 disease_ontology DOID:480 movement disease A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. url:https://en.wikipedia.org/wiki/Movement_disorders 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. GARD:5622 MESH:D019294 NCI:C84628 OMIM:213700 ORDO:909 SNOMEDCT_US_2023_03_01:63246000 UMLS_CUI:C0238052 Cholestanol storage disease disease_ontology DOID:4810 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://www.ncbi.nlm.nih.gov/books/NBK1409/ NCI:C9370 UMLS_CUI:C1377914 adult brain stem Gliosarcoma disease_ontology DOID:4812 adult brainstem gliosarcoma A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. NCI:C9091 UMLS_CUI:C0278873 adult Brainstem Neuroglial tumor disease_ontology DOID:4813 adult brain stem glioma A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. url:https://en.wikipedia.org/wiki/Brainstem_glioma An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. ICDO:9490/0 MESH:D005729 NCI:C3049 NCI:C42065 SNOMEDCT_US_2023_03_01:189929007 UMLS_CUI:C0017075 UMLS_CUI:C1513025 disease_ontology DOID:4817 ganglioneuroma An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. url:https://medlineplus.gov/ency/article/001437.htm NCI:C27507 UMLS_CUI:C1333956 disease_ontology DOID:482 hemangioma of peripheral nerve An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. NCI:C9133 SNOMEDCT_US_2023_03_01:1260042002 UMLS_CUI:C0279557 disease_ontology DOID:4829 adenosquamous lung carcinoma An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. url:https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma ICD10CM:D18.0 ICDO:9121/0 MESH:D006392 NCI:C3086 SNOMEDCT_US_2023_03_01:67668002 UMLS_CUI:C0018920 Cavernoma Cavernous haemangioma disease_ontology DOID:483 cavernous hemangioma A squamous cell carcinoma that contains squamous cells and gland-like cells. ICDO:8560/3 MESH:D018196 NCI:C3727 SNOMEDCT_US_2023_03_01:403902008 UMLS_CUI:C0206623 Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma disease_ontology DOID:4830 adenosquamous 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/ A carcinoma that derives_from myoepithelial cells. GARD:10558 ICDO:8982/3 NCI:C7596 SNOMEDCT_US_2023_03_01:24292006 UMLS_CUI:C0334699 disease_ontology DOID:4838 myoepithelial carcinoma A carcinoma that derives_from myoepithelial cells. url:http://www.diagnosticpathology.org/content/3/1/7 MESH:D018266 NCI:C40310 SNOMEDCT_US_2023_03_01:54734006 UMLS_CUI:C0206684 Sebaceous carcinoma adenocarcinoma of the Sebaceous gland disease_ontology DOID:4839 sebaceous adenocarcinoma A skin cancer that arises from the sebaceous glands. ICD10CM:C44 ICDO:8410/3 NCI:C8409 SNOMEDCT_US_2023_03_01:188083002 UMLS_CUI:C1382026 Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland disease_ontology DOID:4840 sebaceous carcinoma A skin cancer that arises from the sebaceous glands. url:https://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957 ICDO:9383/1 MESH:D018315 NCI:C3795 SNOMEDCT_US_2023_03_01:4553004 UMLS_CUI:C0206725 Subependymal astrocytoma WHO grade I Ependymal tumor mixed subependymoma-ependymoma disease_ontology DOID:4843 subependymal glioma MESH:D004806 NCI:C3017 SNOMEDCT_US_2023_03_01:443643007 UMLS_CUI:C0014474 WHO grade II Ependymal tumor epithelial ependymoma disease_ontology DOID:4844 benign ependymoma A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. ICDO:9425/3 NCI:C40315 SNOMEDCT_US_2023_03_01:388600004 UMLS_CUI:C1519086 disease_ontology DOID:4845 pilomyxoid astrocytoma A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. url:https://pubmed.ncbi.nlm.nih.gov/30945015/ url:https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us NCI:C5408 UMLS_CUI:C1334254 Intradural Extramedullary Astrocytic tumor of the Cauda Equina disease_ontology DOID:4846 cauda equina intradural extramedullary astrocytoma NCI:C5479 SNOMEDCT_US_2023_03_01:126963001 UMLS_CUI:C1263892 tumor of the Cauda Equina disease_ontology DOID:4847 cauda equina neoplasm NCI:C9475 UMLS_CUI:C0740480 astrocytoma of Cerebellum disease_ontology DOID:4848 cerebellar astrocytoma A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. GARD:9808 ICDO:9421/1 MESH:D001254 NCI:C4047 SNOMEDCT_US_2023_03_01:67859002 UMLS_CUI:C0334583 Piloid astrocytoma grade I Astrocytic tumor disease_ontology DOID:4851 pilocytic astrocytoma A childhood low-grade glioma 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 A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. ICDO:9424/3 NCI:C4323 SNOMEDCT_US_2023_03_01:189924002 UMLS_CUI:C0334586 Pleomorphic Xantho-astrocytoma disease_ontology DOID:4852 pleomorphic xanthoastrocytoma A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma NCI:C6809 SNOMEDCT_US_2023_03_01:277507004 UMLS_CUI:C0349620 Cerebellar Pilocytic astrocytoma disease_ontology DOID:4853 pilocytic astrocytoma of cerebellum NCI:C5128 UMLS_CUI:C1333284 astrocytoma of Diencephalon disease_ontology DOID:4855 diencephalic astrocytoma ICDO:9442/1 NCI:C5419 SNOMEDCT_US_2023_03_01:128909006 UMLS_CUI:C1266178 disease_ontology DOID:4856 gliofibroma A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. NCI:C7173 Diffuse astrocytoma, low grade WHO grade II astrocytoma disease_ontology DOID:4857 diffuse astrocytoma A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. url:https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii NCI:C8274 UMLS_CUI:C0280795 Pineal Astrocytic tumor disease_ontology DOID:4858 pineal gland astrocytoma NCI:C27505 SNOMEDCT_US_2023_03_01:403976007 UMLS_CUI:C1304511 disease_ontology DOID:486 glomeruloid hemangioma A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. NCI:C7445 SNOMEDCT_US_2023_03_01:107581000119103 UMLS_CUI:C1332608 Brainstem astrocytoma disease_ontology DOID:4860 brain stem astrocytic neoplasm A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. url:https://en.wikipedia.org/wiki/Astrocytoma NCI:C4641 SNOMEDCT_US_2023_03_01:254948003 UMLS_CUI:C0349540 Spinal astrocytoma astrocytoma of spinal cord disease_ontology DOID:4863 spinal cord astrocytoma 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. MESH:D003528 NCI:C2970 SNOMEDCT_US_2023_03_01:11671000 UMLS_CUI:C0010606 Cylindroma disease_ontology DOID:4866 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. url:https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/ A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. NCI:C6346 SNOMEDCT_US_2023_03_01:763064007 UMLS_CUI:C1332911 adenoid cystic carcinoma of the Cervix Uteri disease_ontology DOID:4867 cervical adenoid cystic carcinoma A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. url:https://www.ncbi.nlm.nih.gov/pubmed/26090035 url:https://www.ncbi.nlm.nih.gov/pubmed/28348909 NCI:C5539 UMLS_CUI:C1335502 adenoid cystic carcinoma of the prostate disease_ontology adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma NCI:C9462 UMLS_CUI:C1334368 adenoid cystic carcinoma of Larynx disease_ontology DOID:4869 laryngeal adenoid cystic carcinoma NCI:C4540 SNOMEDCT_US_2023_03_01:254987003 UMLS_CUI:C0346340 disease_ontology adenoid cystic carcinoma of lacrimal gland DOID:4870 lacrimal gland adenoid cystic carcinoma NCI:C5666 SNOMEDCT_US_2023_03_01:1260019009 UMLS_CUI:C1334439 pulmonary adenoid cystic carcinoma disease_ontology adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma NCI:C6051 SNOMEDCT_US_2023_03_01:254619006 UMLS_CUI:C0345945 Tracheal adenoid cystic carcinoma disease_ontology DOID:4875 trachea adenoid cystic carcinoma A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. NCI:C5130 UMLS_CUI:C1332167 Mammary Adenocystic carcinoma disease_ontology adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/ An esophageal carcinoma that derives_from epithelial cells of the salivary gland. NCI:C5342 UMLS_CUI:C1333441 adenoid cystic carcinoma, esophagus disease_ontology DOID:4878 esophageal adenoid cystic carcinoma An esophageal carcinoma that derives_from epithelial cells of the salivary gland. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. NCI:C40295 UMLS_CUI:C1511047 Bartholin gland adenoid cystic carcinoma disease_ontology DOID:4879 Bartholin's gland adenoid cystic carcinoma A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. url:https://www.ncbi.nlm.nih.gov/pubmed/17488169 A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. DOID:7745 NCI:C4264 ORDO:457246 SNOMEDCT_US_2023_03_01:24007003 UMLS_CUI:C0334488 Clear cell sarcoma of kidney childhood kidney clear cell sarcoma renal Clear cell sarcoma disease_ontology DOID:4880 kidney 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 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 ICD10CM:A18.2 MESH:D014388 MESH:D018601 NCI:C26896 SNOMEDCT_US_2023_03_01:10893003 UMLS_CUI:C0041316 UMLS_CUI:C0242830 Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula disease_ontology DOID:4889 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. url:https://pubmed.ncbi.nlm.nih.gov/25131362/ url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf 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 GARD:6808 MESH:D020190 NCI:C84796 OMIM:254770 ORDO:307 ORDO:862 SNOMEDCT_US_2023_03_01:6204001 UMLS_CUI:C0270853 Janz syndrome disease_ontology DOID:4890 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 A middle ear carcinoma that derives_from epithelial cells of glandular origin. NCI:C6848 UMLS_CUI:C1334758 adenocarcinoma of the middle ear disease_ontology adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma A middle ear carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6089 UMLS_CUI:C1334760 carcinoma of the middle ear disease_ontology carcinoma of middle ear DOID:4893 middle ear carcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An ovary adenocarcinoma that arises from the rete ovarii. NCI:C40017 SNOMEDCT_US_2023_03_01:703655009 UMLS_CUI:C3840223 disease_ontology DOID:4894 rete ovarii adenocarcinoma An ovary adenocarcinoma that arises from the rete ovarii. url:https://www.ncbi.nlm.nih.gov/pubmed/21139896 A female reporoductive organ benign neoplasm that is located_in the rete ovarii. NCI:C40016 UMLS_CUI:C1514909 disease_ontology DOID:4895 rete ovarii benign neoplasm A female reporoductive organ benign neoplasm that is located_in the rete ovarii. url:https://www.ncbi.nlm.nih.gov/pubmed/2852648 A bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C27813 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C1370800 disease_ontology DOID:4896 bile duct adenocarcinoma A bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. MESH:D001650 NCI:C27814 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C0740277 disease_ontology DOID:4897 bile duct carcinoma 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 NCI:C40023 UMLS_CUI:C1514429 primary peritoneal serous adenocarcinoma disease_ontology DOID:4901 peritoneal serous adenocarcinoma An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9330 SNOMEDCT_US_2023_03_01:269541000 UMLS_CUI:C0728951 Ca appendix carcinoma of appendix disease_ontology DOID:4902 appendix carcinoma An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. ICDO:8320/3 MESH:D000230 NCI:C3681 SNOMEDCT_US_2023_03_01:69028005 UMLS_CUI:C0205644 granular cell adenocarcinoma disease_ontology DOID:4903 granular cell carcinoma 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 A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. EFO:0002618 MESH:C562463 NCI:C3850 OMIM:260350 SNOMEDCT_US_2023_03_01:154475002 UMLS_CUI:C0235974 Exocrine pancreas carcinoma carcinoma of pancreas disease_ontology Pancreatic carcinoma, familial exocrine cancer DOID:4905 OMIM mapping confirmed by DO. [SN]. pancreatic carcinoma A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.gov/cancertopics/types/pancreatic Pancreatic carcinoma, familial MESH:C535837 A small intestine carcinoma that derives_from epithelial cells of glandular origin. GARD:13090 NCI:C7888 SNOMEDCT_US_2023_03_01:424440001 UMLS_CUI:C0278803 small intestinal adenocarcinoma disease_ontology adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. NCI:C7724 UMLS_CUI:C0238196 small intestinal carcinoma disease_ontology cancer of the small bowel small bowel cancer DOID:4907 small intestine 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 A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. MESH:D001005 NCI:C9291 SNOMEDCT_US_2023_03_01:187762000 UMLS_CUI:C0279637 Ca anus carcinoma of anus disease_ontology DOID:4908 anal carcinoma 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 An urethra cancer that derives_from epithelial cells of glandular origin. NCI:C6167 UMLS_CUI:C1336885 adenocarcinoma of the urethra disease_ontology DOID:4910 urethra adenocarcinoma An urethra cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An esophageal carcinoma that derives_from epithelial cells of glandular origin. MESH:C562730 NCI:C4025 SNOMEDCT_US_2023_03_01:276803003 UMLS_CUI:C0279628 Oesophageal adenocarcinoma disease_ontology DOID:4914 esophagus adenocarcinoma An esophageal carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C4150 SNOMEDCT_US_2023_03_01:47107000 UMLS_CUI:C0334314 Basophil adenocarcinoma Basophil carcinoma basophilic carcinoma disease_ontology DOID:4915 basophilic adenocarcinoma ICDO:8272/3 MESH:D010911 NCI:C4536 SNOMEDCT_US_2023_03_01:128665000 UMLS_CUI:C0346300 carcinoma of the Pituitary gland disease_ontology DOID:4916 pituitary carcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. ICDO:8262/3 NCI:C4142 SNOMEDCT_US_2023_03_01:28558000 UMLS_CUI:C0334306 disease_ontology DOID:4917 villous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. url:https://www.ncbi.nlm.nih.gov/pubmed/15489649 A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. NCI:C6143 UMLS_CUI:C1335748 adenocarcinoma of the kidney Pelvis disease_ontology adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma DOID:12343 ICD10CM:C65 ICD9CM:189.1 NCI:C6142 NCI:C7525 SNOMEDCT_US_2023_03_01:363457009 UMLS_CUI:C0153618 UMLS_CUI:C1335749 carcinoma of kidney Pelvis malignant neoplasm of renal pelvis malignant renal Pelvis neoplasm malignant tumor of renal pelvis renal pelvis cancer disease_ontology DOID:4919 renal pelvis carcinoma NCI:C27018 UMLS_CUI:C0856897 disease_ontology DOID:492 acquired hemangioma NCI:C5559 UMLS_CUI:C1334577 malignant Eccrine tumor malignant eccrine skin neoplasm disease_ontology DOID:4921 eccrine sweat gland cancer A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. DOID:6586 MESH:C537535 NCI:C4189 SNOMEDCT_US_2023_03_01:41919003 UMLS_CUI:C0334371 Juvenile Secretory carcinoma of breast juvenile breast carcinoma juvenile carcinoma of the breast disease_ontology DOID:4922 breast secretory carcinoma A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. url:http://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html A thymic carcinoma that derives_from epithelial cells of glandular origin. NCI:C6459 UMLS_CUI:C1336743 adenocarcinoma of the Thymus disease_ontology DOID:4923 thymus adenocarcinoma A thymic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. MESH:D002282 NCI:C2923 SNOMEDCT_US_2023_03_01:307595008 UMLS_CUI:C0007120 Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma disease_ontology DOID:4926 bronchiolo-alveolar adenocarcinoma A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923 url:https://www.ncbi.nlm.nih.gov/pubmed/15562552 url:https://www.ncbi.nlm.nih.gov/pubmed/9498957 An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. DOID:5246 GARD:10175 MESH:D018285 NCI:C36077 SNOMEDCT_US_2023_03_01:253017000 UMLS_CUI:C0206702 Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma disease_ontology DOID:4927 Klatskin's tumor An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. url:https://meshb.nlm.nih.gov/record/ui?ui=D018285 A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. GARD:6042 ICD10CM:C22.1 MESH:D018281 NCI:C35417 SNOMEDCT_US_2023_03_01:1260050006 UMLS_CUI:C0345905 Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma disease_ontology DOID:4928 intrahepatic cholangiocarcinoma A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. url:https://www.dana-farber.org/intrahepatic-cholangiocarcinoma/ An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. ICDO:8211/3 MESH:D000230 NCI:C65192 SNOMEDCT_US_2023_03_01:4631006 UMLS_CUI:C0205645 tubular carcinoma disease_ontology DOID:4929 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. url:https://www.ncbi.nlm.nih.gov/books/NBK553180/ A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. NCI:C6015 UMLS_CUI:C1334920 adenocarcinoma of the nasal cavity disease_ontology adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A nasal cavity cancer that has_material_basis_in epithelial cells. NCI:C9336 UMLS_CUI:C1377785 cancer of nasal cavity disease_ontology carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma A nasal cavity cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3908 SNOMEDCT_US_2023_03_01:254609000 UMLS_CUI:C0262401 ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater disease_ontology DOID:4932 ampulla of Vater carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. DOID:5571 GARD:12138 ICDO:8401/3 NCI:C4169 SNOMEDCT_US_2023_03_01:57141000 UMLS_CUI:C0334346 apocrine adenocarcinoma apocrine gland carcinoma carcinoma of the Apocrine gland disease_ontology DOID:4933 apocrine carcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C6800 UMLS_CUI:C1334561 malignant Apocrine tumor disease_ontology DOID:4934 apocrine sweat gland cancer An ureter carcinoma that derives_from epithelial cells of glandular origin. NCI:C6155 UMLS_CUI:C1336873 ureteral adenocarcinoma disease_ontology adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma An ureter carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An ureter cancer that is located_in the ureter. NCI:C8993 UMLS_CUI:C0600079 ureteral carcinoma disease_ontology DOID:4939 ureter carcinoma An ureter cancer that is located_in the ureter. url:http://www.mayoclinic.org/ureter-cancer/ An in situ carcinoma that derives_from epithelial cells of glandular origin. ICDO:8140/2 MESH:D065311 NCI:C4123 SNOMEDCT_US_2023_03_01:51642000 UMLS_CUI:C0334276 disease_ontology DOID:4943 adenocarcinoma in situ MESH:D065311 An in situ carcinoma that derives_from epithelial cells of glandular origin. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ NCI:C9296 UMLS_CUI:C1332166 adenocarcinoma of Cardioesophageal junction disease_ontology adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. DOID:5249 ICD10CM:C22.1 ICDO:8160/3 MESH:D018281 NCI:C4436 NCI:C8265 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C0206698 UMLS_CUI:C0280725 adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma disease_ontology DOID:4947 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 A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3844 SNOMEDCT_US_2023_03_01:93810008 UMLS_CUI:C0235782 cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder disease_ontology DOID:4948 gallbladder carcinoma A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370 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. GARD:7413 ICD10CM:A80 ICD9CM:045 MESH:D011051 NCI:C35550 SNOMEDCT_US_2023_03_01:54839009 UMLS_CUI:C0032371 disease_ontology DOID:4953 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. 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 A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. DOID:4954 NCI:C5504 SNOMEDCT_US_2023_03_01:277523004 UMLS_CUI:C0349623 UMLS_CUI:C1332887 melanocytic tumor of the CNS disease_ontology central nervous system primary melanocytic lesion primary melanocytic Lesions of the CNS primary melanocytic lesion of meninges DOID:4955 central nervous system melanocytic neoplasm A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/ url:https://www.ncbi.nlm.nih.gov/pubmed/10403296 NCI:C4660 SNOMEDCT_US_2023_03_01:277522009 UMLS_CUI:C0349622 Meningeal hemangiopericytoma hemangiopericytoma of meninges disease_ontology DOID:4957 meninges hemangiopericytoma An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. GARD:2150 ICD10CM:Q81.2 MESH:D016108 NCI:C84691 SNOMEDCT_US_2023_03_01:254185007 UMLS_CUI:C0079294 Dystrophic epidermolysis bullosa disease_ontology DOID:4959 epidermolysis bullosa dystrophica An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes NCI:C4754 SNOMEDCT_US_2023_03_01:128769003 UMLS_CUI:C1304508 SCH disease_ontology DOID:496 spindle cell hemangioma A hematopoietic system disease that is located_in the bone marrow. MESH:D001855 NCI:C34433 SNOMEDCT_US_2023_03_01:127035006 UMLS_CUI:C0005956 bone marrow disorder disease_ontology DOID:4961 bone marrow disease A hematopoietic system disease that is located_in the bone marrow. url:https://medlineplus.gov/bonemarrowdiseases.html An anxiety disorder that involves discress but neither delusions nor hallucinations. DOID:6342 DOID:9687 ICD10CM:F34.1 ICD10CM:F48.9 MESH:D000275 MESH:D003866 MESH:D009497 NCI:C34533 NCI:C34848 NCI:C35369 SNOMEDCT_US_2023_03_01:154881002 SNOMEDCT_US_2023_03_01:78667006 SNOMEDCT_US_2023_03_01:87414006 UMLS_CUI:C0011579 UMLS_CUI:C0027932 UMLS_CUI:C0282126 Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression disease_ontology DOID:4964 neurotic disorder An anxiety disorder that involves discress but neither delusions nor hallucinations. url:http://en.wikipedia.org/wiki/Neurosis GARD:7170 ICD10CM:E24.1 MESH:D009347 NCI:C84917 SNOMEDCT_US_2023_03_01:43019009 UMLS_CUI:C0027577 Nelson's syndrome disease_ontology DOID:4968 Nelson syndrome An agnosia that results in the loss of the ability to consciously recognize familiar faces. ICD10CM:R48.3 MESH:D020238 NCI:C85031 SNOMEDCT_US_2023_03_01:18358003 UMLS_CUI:C0234512 disease_ontology DOID:4970 prosopagnosia An agnosia that results in the loss of the ability to consciously recognize familiar faces. url:http://en.wikipedia.org/wiki/Agnosia A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. DOID:5737 GARD:8618 ICD10CM:D47.4 ICD10CM:D75.81 ICD9CM:238.76 ICD9CM:289.83 MESH:D055728 NCI:C2862 NCI:C3248 OMIM:254450 SNOMEDCT_US_2023_03_01:128843003 SNOMEDCT_US_2023_03_01:267572005 UMLS_CUI:C0001815 UMLS_CUI:C0026987 Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis disease_ontology DOID:4971 OMIM mapping confirmed by DO. [SN]. myelofibrosis A myeloid neoplasm 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 A myeloid neoplasm that results_in the overproduction of white blood cells. DOID:6470 MESH:D054437 NCI:C27262 SNOMEDCT_US_2023_03_01:445738007 UMLS_CUI:C1301355 Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer disease_ontology myelodysplastic myeloproliferative disease DOID:4972 myelodysplastic/myeloproliferative neoplasm A myeloid neoplasm that results_in the overproduction of white blood cells. url:http://www.bloodjournal.org/content/114/5/937.long url:http://www.bloodjournal.org/content/127/20/2391 url:http://www.bloodjournal.org/content/128/3/462 url:https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq MESH:D004604 NCI:C34569 SNOMEDCT_US_2023_03_01:155485008 UMLS_CUI:C0013882 disease_ontology DOID:4976 elephantiasis MESH:D008209 NCI:C3207 SNOMEDCT_US_2023_03_01:266334008 UMLS_CUI:C0024236 Lymphatic edema Lymphoedema disease_ontology DOID:4977 lymphedema NCI:C7135 UMLS_CUI:C0279980 extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour disease_ontology DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor A pancreas disease that is characterized by inflammation of the pancreas. EFO:0000278 ICD10CM:K85.9 MESH:D010195 NCI:C3306 OMIM:167800 SNOMEDCT_US_2023_03_01:393591004 UMLS_CUI:C0030305 disease_ontology DOID:4989 pancreatitis A pancreas disease that is characterized by inflammation of the pancreas. url:https://medlineplus.gov/pancreatitis.html A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. GARD:5910 ICD10CM:G25.0 MESH:D020329 NCI:C182453 OMIM:PS190300 ORDO:862 SNOMEDCT_US_2023_03_01:192839001 UMLS_CUI:C0270736 benign essential tremor essential hereditary tremor shaky hand syndrome disease_ontology DOID:4990 Xref MGI. essential tremor 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 DOID:4849 NCI:C6769 NCI:C7533 UMLS_CUI:C1335114 UMLS_CUI:C1336971 Astrocytic tumor of optic nerve optic tract astrocytoma disease_ontology DOID:4991 optic nerve astrocytoma GARD:4107 MESH:D020339 NCI:C4537 SNOMEDCT_US_2023_03_01:254976006 UMLS_CUI:C0346326 glioma of the optic nerve disease_ontology DOID:4992 optic nerve glioma An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. NCI:C6895 SNOMEDCT_US_2023_03_01:40293003 UMLS_CUI:C1300347 disease_ontology DOID:4993 atypical polypoid adenomyoma An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. url:http://www.pathologyoutlines.com/topic/uterusapa.html A uterine benign neoplasm that has_material_basis_in gland and muscle components. NCI:C6338 UMLS_CUI:C1336903 adenomyoma of Corpus Uteri uterine corpus adenomyoma disease_ontology DOID:4994 adenomyoma of uterine corpus A uterine benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/16990713 A cervical benign neoplasm that has_material_basis_in gland and muscle components. NCI:C40231 UMLS_CUI:C1516404 disease_ontology DOID:4995 cervical adenomyoma A cervical benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/24582628 An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. GARD:1072 ICD10CM:Q78.3 MESH:D003966 NCI:C84610 OMIM:131300 OMIM:606631 SNOMEDCT_US_2023_03_01:34643004 UMLS_CUI:C0011989 Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia disease_ontology DOID:4997 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 A syndrome 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. GARD:7801 MESH:D015826 NCI:C75118 OMIM:150230 ORDO:502 SNOMEDCT_US_2023_03_01:41069008 UMLS_CUI:C0023003 Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 disease_ontology DOID:4998 OMIM mapping confirmed by DO. [SN]. trichorhinophalangeal syndrome type II A syndrome 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 An endocrine system disease that is located_in the thyroid. ICD10CM:E07.9 ICD9CM:246.9 MESH:D013959 NCI:C26893 SNOMEDCT_US_2023_03_01:14304000 UMLS_CUI:C0040128 disease_ontology DOID:50 thyroid gland disease An endocrine system disease that is located_in the thyroid. url:http://en.wikipedia.org/wiki/Thyroid NCI:C7004 UMLS_CUI:C1333957 hemangioma of CNS disease_ontology DOID:501 central nervous system hemangioma A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. MESH:C537258 NCI:C4131 ORDO:401920 SNOMEDCT_US_2023_03_01:15619004 UMLS_CUI:C0334287 Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor disease_ontology DOID:5015 fibrolamellar carcinoma A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. url:http://www.nejm.org/doi/full/10.1056/NEJMra1001683 url:https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma ICDO:8174/3 NCI:C5754 SNOMEDCT_US_2023_03_01:128649001 UMLS_CUI:C1266020 Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type disease_ontology DOID:5016 hepatocellular clear cell carcinoma NCI:C27922 UMLS_CUI:C1332222 disease_ontology DOID:5022 aflatoxins-related hepatocellular carcinoma NCI:C27388 SNOMEDCT_US_2023_03_01:128646008 UMLS_CUI:C1266018 Sclerosing Hepatocellular carcinoma disease_ontology DOID:5026 sclerosing hepatic carcinoma ICDO:9362/3 NCI:C6967 SNOMEDCT_US_2023_03_01:715904005 UMLS_CUI:C1367859 pineal parenchymal tumour of intermediate differentiation disease_ontology DOID:5030 pineal parenchymal tumor of intermediate differentiation NCI:C8273 UMLS_CUI:C0280794 adult Pineal Parenchymal neoplasm disease_ontology DOID:5031 adult pineal parenchymal tumor An endocrine gland located_in the pineal gland located in the brain. DOID:1662 DOID:4859 ICD10CM:C75.3 ICD9CM:194.4 MESH:D010871 NCI:C3328 NCI:C3573 NCI:C6965 SNOMEDCT_US_2023_03_01:127026004 SNOMEDCT_US_2023_03_01:93962006 UMLS_CUI:C0031941 UMLS_CUI:C0153655 UMLS_CUI:C1412004 Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region disease_ontology DOID:5032 pineal gland cancer An endocrine gland located_in the pineal gland located in the brain. url:http://en.wikipedia.org/wiki/Pineal_gland MESH:D009379 NCI:C3252 UMLS_CUI:C0027043 benign granular cell tumor disease_ontology DOID:5039 myoblastoma NCI:C5700 SNOMEDCT_US_2023_03_01:1196862008 UMLS_CUI:C1333448 granular cell tumor of esophagus granular cell tumour of oesophagus malignant granular cell esophageal tumour disease_ontology DOID:5040 malignant granular cell esophageal tumor A gastrointestinal system cancer that is located_in the esophagus. DOID:10291 DOID:10292 DOID:10448 DOID:1102 DOID:1104 GARD:6383 ICD10CM:C15.3 ICD10CM:C15.4 ICD10CM:C15.5 ICD9CM:150.2 ICD9CM:150.3 ICD9CM:150.4 ICD9CM:150.5 ICD9CM:150.8 MESH:D004938 NCI:C3028 NCI:C3533 NCI:C3534 NCI:C3535 NCI:C4764 OMIM:133239 SNOMEDCT_US_2023_03_01:126817006 SNOMEDCT_US_2023_03_01:187729008 SNOMEDCT_US_2023_03_01:93656003 SNOMEDCT_US_2023_03_01:93877002 SNOMEDCT_US_2023_03_01:93895004 SNOMEDCT_US_2023_03_01:94119000 UMLS_CUI:C0014859 UMLS_CUI:C0153413 UMLS_CUI:C0153414 UMLS_CUI:C0153415 UMLS_CUI:C0153416 UMLS_CUI:C0496775 Ca lower third oesophagus Ca middle third oesophagus 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 disease_ontology DOID:5041 esophageal cancer 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 NCI:C4336 SNOMEDCT_US_2023_03_01:404041003 UMLS_CUI:C0334618 granular cell tumor, malignant malignant granular cell neoplasm malignant granular cell tumor disease_ontology DOID:5042 malignant granular cell myoblastoma A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. NCI:C40328 UMLS_CUI:C1520083 disease_ontology DOID:5043 vulvar granular cell tumor A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. url:https://en.wikipedia.org/wiki/Granular_cell_tumor url:https://www.ncbi.nlm.nih.gov/pubmed/24303488 url:https://www.ncbi.nlm.nih.gov/pubmed/27510686 NCI:C5360 UMLS_CUI:C1332845 granular cell tumor of Heart disease_ontology DOID:5044 cardiac granular cell neoplasm NCI:C6601 UMLS_CUI:C1334656 granular cell tumor of mediastinum disease_ontology DOID:5046 mediastinal granular cell myoblastoma A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. NCI:C7017 SNOMEDCT_US_2023_03_01:699331002 UMLS_CUI:C1333873 neurohypophysis granular cell tumor disease_ontology DOID:5047 granular cell tumor of the sellar region A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. url:https://pubmed.ncbi.nlm.nih.gov/32926559/ A pituitary gland benign neoplasm that arises from the neurohypophysis. NCI:C7157 UMLS_CUI:C1334957 Posterior Pituitary tumor disease_ontology DOID:5048 posterior pituitary gland neoplasm A pituitary gland benign neoplasm that arises from the neurohypophysis. url:https://pubmed.ncbi.nlm.nih.gov/33709954/ 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 GARD:9546 ICD10CM:A24.9 ICD9CM:025 MESH:D008554 NCI:C128336 SNOMEDCT_US_2023_03_01:428111003 UMLS_CUI:C0025229 Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis disease_ontology DOID:5052 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. url:http://www.cdc.gov/melioidosis/symptoms/index.html NCI:C5968 UMLS_CUI:C1332197 tumor of adult Cerebellum disease_ontology DOID:5056 adult cerebellar neoplasm NCI:C5270 UMLS_CUI:C1332902 Papillary meningioma of Cerebellum disease_ontology DOID:5057 papillary meningioma of the cerebellum NCI:C6909 SNOMEDCT_US_2023_03_01:399469000 UMLS_CUI:C0259786 Papillary meningioma meningioma, rhabdoid disease_ontology DOID:5058 rhabdoid meningioma NCI:C5970 UMLS_CUI:C1332959 pediatric tumor of Cerebellum disease_ontology DOID:5059 childhood cerebellar neoplasm ICDO:8094/3 MESH:D002281 NCI:C2922 SNOMEDCT_US_2023_03_01:37304002 UMLS_CUI:C0007118 Basisquamous cell carcinoma Metatypical carcinoma basosquamous cell carcinoma disease_ontology DOID:5063 basosquamous carcinoma A high grade 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 ICDO:9391/3 NCI:C6770 UMLS_CUI:C1333407 Ependymal neoplasm ependymal tumors malignant ependymoma disease_ontology DOID:5074 high grade ependymoma A high grade 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 GARD:10633 ICDO:9394/1 MESH:D004806 NCI:C3697 SNOMEDCT_US_2023_03_01:1623000 UMLS_CUI:C0205769 disease_ontology DOID:5075 myxopapillary ependymoma MESH:D005910 NCI:C3903 SNOMEDCT_US_2023_03_01:443937008 UMLS_CUI:C0259783 mixed Neuroglial tumor mixed gliomas disease_ontology DOID:5076 mixed glioma GARD:10632 ICDO:9384/1 MESH:D001254 NCI:C3696 SNOMEDCT_US_2023_03_01:449799008 UMLS_CUI:C0205768 SEGA disease_ontology DOID:5077 subependymal giant cell astrocytoma A cell type benign neoplasm that has_material_basis_in glial-type cells. DOID:5606 DOID:5607 GARD:2430 ICDO:9505/1 MESH:D018303 NCI:C27362 NCI:C27363 NCI:C3788 SNOMEDCT_US_2023_03_01:87191000119100 UMLS_CUI:C0206716 UMLS_CUI:C1332202 UMLS_CUI:C1332969 CNS ganglioglioma adult ganglioglioma childhood ganglioglioma disease_ontology DOID:5078 ganglioglioma 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 EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 SNOMEDCT_US_2023_03_01:19943007 UMLS_CUI:C0023890 Cirrhosis cirrhosis of liver disease_ontology DOID:5082 liver cirrhosis NCI:C37265 UMLS_CUI:C1334602 disease_ontology DOID:5088 mixed epithelial stromal tumour A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. DOID:6763 NCI:C6730 NCI:C8408 SNOMEDCT_US_2023_03_01:126559003 UMLS_CUI:C1290244 UMLS_CUI:C1382025 disease_ontology DOID:5090 sternum cancer 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 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 ICD10CM:C76.1 ICD9CM:195.1 MESH:D013899 NCI:C3406 NCI:C3576 SNOMEDCT_US_2023_03_01:188361007 SNOMEDCT_US_2023_03_01:255058005 UMLS_CUI:C0039981 UMLS_CUI:C0153661 Thoracic tumor thorax cancer thorax neoplasm tumor of thorax disease_ontology DOID:5093 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. url:https://radonc.ucsf.edu/thoracic-cancers An ear cancer that is located_in the middle ear. NCI:C4412 SNOMEDCT_US_2023_03_01:127006003 UMLS_CUI:C0345617 neoplasm of middle ear tumor of the middle ear disease_ontology DOID:5099 middle ear cancer An ear cancer that is located_in the middle ear. url:http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors NCI:C27065 SNOMEDCT_US_2023_03_01:155260002 UMLS_CUI:C0271428 disease_ontology DOID:5100 middle ear disease An ear cancer located_in the inner ear. NCI:C39784 UMLS_CUI:C1512779 disease_ontology DOID:5102 inner ear cancer An ear cancer located_in the inner ear. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null NCI:C27617 SNOMEDCT_US_2023_03_01:33793000 UMLS_CUI:C0392041 infarction of testis testicular infarction disease_ontology DOID:5104 testicular infarct A dermoid cyst that is located_in the ovary. MESH:C562731 NCI:C3856 OMIM:166950 SNOMEDCT_US_2023_03_01:189116006 UMLS_CUI:C0237020 Dermoid cyst Ovarian Dermoid Cyst disease_ontology DOID:5117 OMIM mapping confirmed by DO. [SN]. dermoid cyst of ovary A dermoid cyst that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/24056662 A cystic teratoma that is located_in the ovary. NCI:C7283 UMLS_CUI:C1335155 disease_ontology DOID:5118 ovarian cystic teratoma A cystic teratoma that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/22902841 NCI:C39958 SNOMEDCT_US_2023_03_01:126902008 UMLS_CUI:C0346239 neoplasm of epididymis disease_ontology DOID:512 epididymal neoplasm A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. NCI:C6598 UMLS_CUI:C1334659 leiomyoma of mediastinum disease_ontology DOID:5123 mediastinum leiomyoma A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/ A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. NCI:C40127 UMLS_CUI:C1517115 disease_ontology DOID:5124 fallopian tube leiomyoma A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/ A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. NCI:C5855 UMLS_CUI:C1333507 leiomyoma of the extrahepatic bile duct disease_ontology DOID:5125 extrahepatic bile duct leiomyoma A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/11896229 A central nervous system benign neoplasm that derives_from smooth muscle cells. NCI:C6998 UMLS_CUI:C1334382 leiomyoma of CNS disease_ontology DOID:5126 central nervous system leiomyoma A central nervous system benign neoplasm that derives_from smooth muscle cells. url:https://pubmed.ncbi.nlm.nih.gov/30725665/ A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. ICDO:8893/0 NCI:C4257 SNOMEDCT_US_2023_03_01:48897006 UMLS_CUI:C0334478 Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma disease_ontology DOID:5127 bizarre leiomyoma A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html A leiomyoma that is located_in deep soft tissue. NCI:C6512 UMLS_CUI:C1333266 disease_ontology DOID:5128 deep leiomyoma A leiomyoma that is located_in deep soft tissue. url:http://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html url:https://www.ncbi.nlm.nih.gov/pubmed/27186256 NCI:C4482 SNOMEDCT_US_2023_03_01:254767008 UMLS_CUI:C0346064 Cutaneous leiomyoma leiomyoma of the skin disease_ontology DOID:5132 leiomyoma cutis A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. NCI:C5608 UMLS_CUI:C1332266 leiomyoma of anus disease_ontology DOID:5134 anus leiomyoma A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pubmed/9187805 A lung benign neoplasm that derives_from some smooth muscle cell. NCI:C5660 SNOMEDCT_US_2023_03_01:707374005 UMLS_CUI:C1334447 pulmonary leiomyoma disease_ontology DOID:5136 lung leiomyoma A lung benign neoplasm that derives_from some smooth muscle cell. url:https://www.ncbi.nlm.nih.gov/pubmed/26941368 A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. NCI:C6743 UMLS_CUI:C1335380 leiomyoma of Pericardium disease_ontology DOID:5137 pericardium leiomyoma A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. url:https://www.ncbi.nlm.nih.gov/pubmed/4453980 A leiomyoma that is multiple and diffuse. ICDO:8890/1 MESH:D018231 NCI:C3748 SNOMEDCT_US_2023_03_01:1157154004 UMLS_CUI:C0206654 disease_ontology DOID:5138 leiomyomatosis A leiomyoma that is multiple and diffuse. url:https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. ICDO:8892/0 NCI:C4256 SNOMEDCT_US_2023_03_01:90955001 UMLS_CUI:C0334477 disease_ontology DOID:5139 cellular leiomyoma A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. NCI:C5747 UMLS_CUI:C1333745 leiomyoma of the gallbladder disease_ontology DOID:5140 gallbladder leiomyoma A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/17059154 A vulvar benign neoplasm that is located_in smooth muscle cells. NCI:C40326 UMLS_CUI:C1520087 disease_ontology DOID:5142 vulvar leiomyoma A vulvar benign neoplasm that is located_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/ An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. NCI:C5677 SNOMEDCT_US_2023_03_01:1196826007 UMLS_CUI:C1333113 leiomyoma of large Intestine disease_ontology DOID:5143 large bowel leiomyoma An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. url:https://www.ncbi.nlm.nih.gov/pubmed/17201349 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. NCI:C5514 SNOMEDCT_US_2023_03_01:1196825006 UMLS_CUI:C1332327 Appendiceal leiomyoma disease_ontology DOID:5146 appendix leiomyoma A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. url:https://www.ncbi.nlm.nih.gov/pubmed/7414395 A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. NCI:C4483 SNOMEDCT_US_2023_03_01:254770007 UMLS_CUI:C0346066 Dartoic myoma disease_ontology DOID:5147 dartoic leiomyoma A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483 url:https://www.ncbi.nlm.nih.gov/pubmed/27529047 NCI:C6558 SNOMEDCT_US_2023_03_01:404032008 UMLS_CUI:C1275264 disease_ontology DOID:5149 epithelioid neurofibroma NCI:C5746 UMLS_CUI:C1333751 Neurofibroma of the gallbladder disease_ontology DOID:5150 neurofibroma of gallbladder ICDO:9550/0 MESH:D018318 NCI:C3797 SNOMEDCT_US_2023_03_01:41252002 UMLS_CUI:C0206728 disease_ontology DOID:5151 plexiform neurofibroma NCI:C41427 UMLS_CUI:C1516371 disease_ontology DOID:5152 cellular neurofibroma NCI:C6559 UMLS_CUI:C1334828 disease_ontology DOID:5155 multiple mucosal neuroma NCI:C9351 UMLS_CUI:C1377913 Mesothelioma of Pleura disease_ontology DOID:5157 benign pleural mesothelioma A connective tissue cancer that located_in the pleura. DOID:9917 ICD10CM:C38.4 ICD9CM:163 MESH:D010997 NCI:C3332 NCI:C3547 SNOMEDCT_US_2023_03_01:126719004 SNOMEDCT_US_2023_03_01:363433009 UMLS_CUI:C0032229 UMLS_CUI:C0153494 Pleural tumor neoplasm of pleura disease_ontology DOID:5158 pleural cancer A connective tissue cancer that located_in the pleura. url:http://en.wikipedia.org/wiki/Pleural_cavity An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. ICD10CM:I70 MESH:D050379 NCI:C35543 SNOMEDCT_US_2023_03_01:17941002 UMLS_CUI:C0878486 disease_ontology DOID:5162 arteriolosclerosis MESH:D050379 An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. url:https://en.wikipedia.org/wiki/Arteriolosclerosis An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. GARD:9383 NCI:C6339 SNOMEDCT_US_2023_03_01:254877001 UMLS_CUI:C0338113 sarcoma of Corpus Uteri sarcoma of uterus disease_ontology DOID:5165 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. url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient An ovary sarcoma that arises from endometrial stromal tissue. NCI:C40065 UMLS_CUI:C4288544 disease_ontology DOID:5169 ovarian endometrioid stromal sarcoma An ovary sarcoma that arises from endometrial stromal tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/ A vagina sarcoma that has_material_basis_in endometrial stroma. NCI:C40270 UMLS_CUI:C3642329 disease_ontology DOID:5170 vaginal endometrial stromal sarcoma A vagina sarcoma that has_material_basis_in endometrial stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/24294390 A vaginal cancer that has_material_basis_in endometrial stroma. NCI:C40269 UMLS_CUI:C4289585 disease_ontology DOID:5171 vaginal endometrial stromal tumor A vaginal cancer that has_material_basis_in endometrial stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/24294390 NCI:C6951 UMLS_CUI:C1335062 Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour disease_ontology nonanaplastic renal wilms tumor DOID:5176 renal Wilms' tumor NCI:C38158 UMLS_CUI:C1334705 disease_ontology metachronous Wilms tumor of the kidney DOID:5178 metachronous kidney Wilms' tumor NCI:C9149 UMLS_CUI:C0279611 mixed cell type kidney Wilms' tumour mixed cell type renal Wilms tumor mixed cell type renal Wilms tumour disease_ontology DOID:5179 mixed cell type kidney Wilms' tumor DOID:13158 ICD10CM:C63.2 ICD9CM:187.7 NCI:C3560 NCI:C4380 SNOMEDCT_US_2023_03_01:126905005 SNOMEDCT_US_2023_03_01:93999006 UMLS_CUI:C0153604 UMLS_CUI:C0341790 Scrotal Ca Scrotal tumor malignant Scrotal neoplasm malignant tumor of scrotum malignant tumour of scrotum neoplasm of scrotum scrotum cancer disease_ontology DOID:518 scrotum neoplasm NCI:C9147 UMLS_CUI:C0279609 Blastema Predominant renal Wilms tumor Blastema Predominant renal Wilms tumour blastema predominant kidney Wilms' tumour blastema predominant kidney adenosarcoma disease_ontology DOID:5182 blastema predominant kidney Wilms' tumor A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. NCI:C8496 UMLS_CUI:C0677779 Hereditary Wilms tumor Hereditary Wilms tumour WT1 hereditary Wilms' tumour disease_ontology DOID:5183 hereditary Wilms' tumor A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. url:http://www.cancerindex.org/geneweb/X210202.htm NCI:C9146 UMLS_CUI:C0279608 epithelial Predominant renal Wilms tumor epithelial Predominant renal Wilms tumour epithelial predominant Wilms' tumour epithelial predominant kidney adenosarcoma disease_ontology DOID:5189 epithelial predominant Wilms' tumor ICD10CM:I77.6 MESH:D001025 NCI:C97085 SNOMEDCT_US_2023_03_01:195368003 UMLS_CUI:C0003509 disease_ontology DOID:519 aortitis A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. NCI:C40236 UMLS_CUI:C1516437 disease_ontology cervical Wilms tumor DOID:5190 cervical Wilms' tumor A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/10620450 NCI:C9148 UMLS_CUI:C0279610 Stromal Predominant renal Wilms tumor Stromal Predominant renal Wilms tumour stromal predominant kidney Wilms' tumour disease_ontology DOID:5191 stromal predominant kidney Wilms' tumor NCI:C42058 SNOMEDCT_US_2023_03_01:822950002 UMLS_CUI:C1517445 disease_ontology DOID:5193 nodular ganglioneuroblastoma NCI:C42057 SNOMEDCT_US_2023_03_01:822951003 UMLS_CUI:C1517444 disease_ontology DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma NCI:C6594 UMLS_CUI:C1335387 PNS Ganglioneuroblastoma disease_ontology DOID:5195 peripheral nervous system ganglioneuroblastoma A fallopian tube benign neoplasm that derives_from mesothelium. NCI:C40129 UMLS_CUI:C1517110 disease_ontology DOID:5196 fallopian tube adenomatoid tumor A fallopian tube benign neoplasm that derives_from mesothelium. url:https://www.ncbi.nlm.nih.gov/pubmed/13222203 An artery disease that is characterized by degeneration of the cells composing the aortic wall. MESH:D001018 NCI:C101253 SNOMEDCT_US_2023_03_01:47040006 UMLS_CUI:C0003493 aortic disorder disorder of the aorta disease_ontology DOID:520 aortic disease 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 ICD10CM:N13.9 ICD9CM:599.6 NCI:C79805 SNOMEDCT_US_2023_03_01:7163005 UMLS_CUI:C0178879 Obstructive Uropathy urinary obstruction disease_ontology DOID:5200 urinary tract obstruction 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. GARD:2400 ICD10CM:E74.19 MESH:D015319 NCI:C128119 OMIM:229700 SNOMEDCT_US_2023_03_01:28183005 UMLS_CUI:C0016756 fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency disease_ontology DOID:5204 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency url:http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). NCI:C7286 SNOMEDCT_US_2023_03_01:399632009 UMLS_CUI:C1302569 Ovarian Monodermal teratoma disease_ontology DOID:5207 monodermal teratoma An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 A struma ovarii that is cancerous. NCI:C4291 SNOMEDCT_US_2023_03_01:18854008 UMLS_CUI:C0334525 Struma ovarii, malignant disease_ontology DOID:5208 malignant struma ovarii A struma ovarii that is cancerous. url:https://www.ncbi.nlm.nih.gov/pubmed/25640097 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. GARD:10307 MESH:D018981 NCI:C84615 ORDO:137 SNOMEDCT_US_2023_03_01:238049009 UMLS_CUI:C0282577 carbohydrate-deficient glycoprotein syndrome disease_ontology DOID:5212 Xref MGI. congenital disorder of glycosylation 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 An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. GARD:6102 ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2023_03_01:128209004 UMLS_CUI:C0393819 disease_ontology DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. url:https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/ NCI:C27062 SNOMEDCT_US_2023_03_01:23414001 UMLS_CUI:C0270922 peripheral demyelinating neuropathy disease_ontology DOID:5214 demyelinating polyneuropathy NCI:C36071 UMLS_CUI:C1167650 disease_ontology DOID:5221 chronic polyneuropathy MESH:D004684 NCI:C35383 SNOMEDCT_US_2023_03_01:111897007 UMLS_CUI:C0338418 disease_ontology DOID:5222 acute necrotizing encephalitis MESH:D007246 NCI:C3836 SNOMEDCT_US_2023_03_01:8619003 UMLS_CUI:C0021359 disease_ontology DOID:5223 infertility NCI:C35796 UMLS_CUI:C1332149 disease_ontology DOID:5224 acute hemorrhagic encephalitis ICD10CM:A85.8 NCI:C26761 SNOMEDCT_US_2023_03_01:20411005 UMLS_CUI:C0014040 Encephalitis lethargica von Economo disease disease_ontology DOID:5225 von Economo's disease GARD:6169 MESH:D017121 NCI:C84754 ORDO:95159 SNOMEDCT_US_2023_03_01:111386004 UMLS_CUI:C0162569 disease_ontology DOID:5230 hepatoerythropoietic porphyria ICDO:8710/3 NCI:C4221 SNOMEDCT_US_2023_03_01:128908003 UMLS_CUI:C1266111 malignant Glomus neoplasm disease_ontology DOID:5233 glomangiosarcoma NCI:C36079 SNOMEDCT_US_2023_03_01:403973004 UMLS_CUI:C1304510 subungual glomus tumour disease_ontology DOID:5236 subungual glomus tumor NCI:C6529 UMLS_CUI:C1332532 disease_ontology DOID:5238 benign perivascular tumor NCI:C39783 SNOMEDCT_US_2023_03_01:312935003 UMLS_CUI:C0730303 Capillary hemangioma of retina disease_ontology DOID:5240 retinal hemangioblastoma GARD:8232 GARD:8522 ICDO:9161/1 MESH:D018325 NCI:C3801 SNOMEDCT_US_2023_03_01:81201000 UMLS_CUI:C0206734 Capillary Hemangioblastoma disease_ontology DOID:5241 hemangioblastoma A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. MESH:D020293 NCI:C84622 UMLS_CUI:C0751878 disease_ontology DOID:525 central nervous system vasculitis A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. url:https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. NCI:C27495 UMLS_CUI:C1334179 disease_ontology DOID:5251 inflammatory leiomyosarcoma A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. url:https://www.nature.com/articles/modpathol2017113 A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. NCI:C9428 UMLS_CUI:C1333157 disease_ontology DOID:5253 conventional leiomyosarcoma A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. url:https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733 A leiomyosarcoma that is located_in the central nervous system. NCI:C6999 UMLS_CUI:C1334385 leiomyosarcoma of the CNS disease_ontology DOID:5254 central nervous system leiomyosarcoma A leiomyosarcoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/10761660 A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. NCI:C27494 UMLS_CUI:C1333871 disease_ontology DOID:5258 granular cell leiomyosarcoma A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/3232754 A leiomyosarcoma and sarcoma of colon that is located_in the colon. NCI:C5494 SNOMEDCT_US_2023_03_01:1156788007 UMLS_CUI:C1333093 Colonic leiomyosarcoma disease_ontology DOID:5259 colon leiomyosarcoma A leiomyosarcoma and sarcoma of colon that is located_in the colon. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm 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. ICD10CM:B20 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 SNOMEDCT_US_2023_03_01:86406008 UMLS_CUI:C0019693 HIV infection disease_ontology DOID:526 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. url:http://en.wikipedia.org/wiki/HIV url:http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. NCI:C5495 UMLS_CUI:C1333098 Colonic sarcoma disease_ontology DOID:5260 colon sarcoma A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. url:https://pubmed.ncbi.nlm.nih.gov/31243197/ NCI:C5364 UMLS_CUI:C1332848 leiomyosarcoma of Heart disease_ontology DOID:5261 heart leiomyosarcoma A sarcoma and malignant neoplasm of heart that is located_in the heart. NCI:C7723 UMLS_CUI:C0238152 cardiac sarcoma sarcoma of Heart disease_ontology DOID:5262 heart sarcoma A sarcoma and malignant neoplasm of heart that is located_in the heart. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma An ovary sarcoma that arises from smooth muscle progenitors. NCI:C5234 UMLS_CUI:C1335163 leiomyosarcoma of Ovary disease_ontology DOID:5263 ovary leiomyosarcoma An ovary sarcoma that arises from smooth muscle progenitors. url:https://www.ncbi.nlm.nih.gov/pubmed/22873115 A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. ICDO:8891/3 MESH:D007890 NCI:C3700 SNOMEDCT_US_2023_03_01:42392001 UMLS_CUI:C0205815 disease_ontology DOID:5264 epithelioid leiomyosarcoma A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/28288693 A leiomyosarcoma and sarcoma of lung that is located_in the lung. NCI:C5667 UMLS_CUI:C1334448 pulmonary leiomyosarcoma disease_ontology DOID:5265 lung leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/ A leiomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5599 UMLS_CUI:C1332267 leiomyosarcoma of anus disease_ontology DOID:5267 anus leiomyosarcoma A leiomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://www.springerlink.com/content/t57853114066u8n8/ A leiomyosarcoma that is characterized by abundant myxoid stroma. ICDO:8896/3 MESH:D007890 NCI:C3701 SNOMEDCT_US_2023_03_01:189792003 UMLS_CUI:C0205816 disease_ontology DOID:5268 myxoid leiomyosarcoma A leiomyosarcoma that is characterized by abundant myxoid stroma. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/26866354 A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. NCI:C7085 SNOMEDCT_US_2023_03_01:716651004 UMLS_CUI:C0920305 leiomyosarcoma of the small Bowel disease_ontology smooth muscle connective tissue tumor DOID:5271 small intestine leiomyosarcoma A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. url:http://en.wikipedia.org/wiki/Leiomyosarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. NCI:C5335 UMLS_CUI:C1336007 sarcoma of the Small Intestine disease_ontology DOID:5272 small intestinal sarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. url:http://www.cancer.gov/cancertopics/types/smallintestine NCI:C4484 SNOMEDCT_US_2023_03_01:254771006 UMLS_CUI:C0346067 leiomyosarcoma of the skin disease_ontology DOID:5273 cutaneous leiomyosarcoma NCI:C4574 SNOMEDCT_US_2023_03_01:255096006 UMLS_CUI:C0346811 malignant dermis tumour malignant neoplasm of Dermis malignant tumor of dermis malignant tumour of dermis disease_ontology DOID:5274 malignant dermis tumor A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. NCI:C5841 UMLS_CUI:C1333746 leiomyosarcoma of the gallbladder disease_ontology DOID:5275 gallbladder leiomyosarcoma A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. url:http://en.wikipedia.org/wiki/Leiomyosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/2278917 NCI:C5334 SNOMEDCT_US_2023_03_01:1156786006 UMLS_CUI:C1333454 leiomyosarcoma of esophagus leiomyosarcoma of oesophagus oesophagus leiomyosarcoma disease_ontology DOID:5276 esophagus leiomyosarcoma NCI:C27200 SNOMEDCT_US_2023_03_01:447785000 UMLS_CUI:C0744295 disease_ontology DOID:5280 gastric leiomyosarcoma A prostate sarcoma that is located_in the prostate. NCI:C5526 UMLS_CUI:C1335511 leiomyosarcoma of the prostate disease_ontology DOID:5282 prostate leiomyosarcoma A prostate sarcoma that is located_in the prostate. url:http://www3.interscience.wiley.com/journal/112677325/abstract A vagina sarcoma that has_material_basis_in smooth muscle. NCI:C6326 UMLS_CUI:C1336940 leiomyosarcoma of the vagina disease_ontology DOID:5283 vagina leiomyosarcoma A vagina sarcoma that has_material_basis_in smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/25909129 NCI:C27904 disease_ontology DOID:5284 retroperitoneal leiomyosarcoma A breast sarcoma that arises from smooth muscle cells. NCI:C5186 UMLS_CUI:C1332631 leiomyosarcoma of the breast disease_ontology DOID:5285 breast leiomyosarcoma A breast sarcoma that arises from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ A vulvar sarcoma that has_material_basis_in smooth muscle cells. NCI:C40318 disease_ontology DOID:5286 vulvar leiomyosarcoma A vulvar sarcoma that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/26010680 A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. NCI:C6183 UMLS_CUI:C1335743 leiomyosarcoma of kidney disease_ontology DOID:5287 kidney leiomyosarcoma A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. url:http://www.sage-hindawi.com/journals/pri/2010/652398.html A leiomyosarcoma located_in the larynx. NCI:C6022 UMLS_CUI:C1334371 leiomyosarcoma of Larynx disease_ontology DOID:5288 larynx leiomyosarcoma A leiomyosarcoma located_in the larynx. url:http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. NCI:C6340 SNOMEDCT_US_2023_03_01:447389009 UMLS_CUI:C0280631 leiomyosarcoma of Corpus Uteri disease_ontology DOID:5289 uterus leiomyosarcoma 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 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. GARD:5909 ICD10CM:G24.5 ICD9CM:333.81 MESH:D001764 NCI:C118723 SNOMEDCT_US_2023_03_01:155009007 UMLS_CUI:C0005747 disease_ontology DOID:529 OMIM mapping confirmed by DO. [SN]. blepharospasm MESH:D001764 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 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. NCI:C6619 UMLS_CUI:C1334660 leiomyosarcoma of mediastinum disease_ontology DOID:5292 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. url:https://pubmed.ncbi.nlm.nih.gov/33776690/ url:https://pubmed.ncbi.nlm.nih.gov/34446630/ A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. NCI:C5848 UMLS_CUI:C1333508 leiomyosarcoma of the bile duct disease_ontology DOID:5293 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. url:http://www.cancer.gov/dictionary/?CdrID=44498 url:http://www.cancer.gov/dictionary/?CdrID=46027 A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MESH:D007410 NCI:C26801 SNOMEDCT_US_2023_03_01:266483008 UMLS_CUI:C0021831 disease_ontology DOID:5295 intestinal disease A gastrointestinal system disease that is located_in the intestine. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A leiomyosarcoma and sarcoma of liver that is located_in the liver. NCI:C5756 UMLS_CUI:C1333969 leiomyosarcoma of the Liver disease_ontology DOID:5296 liver leiomyosarcoma A leiomyosarcoma and sarcoma of liver that is located_in the liver. url:http://www.cancer.gov/dictionary/?CdrID=46027 A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. NCI:C5549 SNOMEDCT_US_2023_03_01:1156783003 UMLS_CUI:C1335683 leiomyosarcoma of rectum disease_ontology DOID:5297 rectum leiomyosarcoma 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 An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. NCI:C8028 UMLS_CUI:C0279765 Clear cell carcinoma of Endometrium disease_ontology DOID:5299 endometrial clear cell adenocarcinoma An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/24817975 An adnexa disease that is located_in the eyelid. ICD10CM:H02.9 ICD9CM:374.9 MESH:D005141 NCI:C26768 SNOMEDCT_US_2023_03_01:60113004 UMLS_CUI:C0015423 disease_ontology DOID:530 eyelid disease 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 A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C6280 UMLS_CUI:C1333591 Clear cell carcinoma of the fallopian tube disease_ontology DOID:5301 fallopian tube clear cell adenocarcinoma A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.hindawi.com/journals/criog/2015/183243/ A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C40139 UMLS_CUI:C5557431 disease_ontology DOID:5302 uterine ligament clear cell adenocarcinoma A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/26699941 A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C6344 UMLS_CUI:C1332912 Clear cell carcinoma of the Cervix Uteri disease_ontology DOID:5303 cervical clear cell adenocarcinoma A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/23849091 A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C40078 SNOMEDCT_US_2023_03_01:763131005 UMLS_CUI:C1518693 disease_ontology DOID:5304 ovarian clear cell adenocarcinoma A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/25398420 A clear cell adenocarcinoma that is located_in the bladder. NCI:C6179 UMLS_CUI:C1332557 bladder Mesonephric adenocarcinoma disease_ontology clear cell adenocarcinoma of bladder DOID:5306 bladder clear cell adenocarcinoma A clear cell adenocarcinoma that is located_in the bladder. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/ A clear cell adenocarcinoma that is located_in the urethra. NCI:C6172 UMLS_CUI:C1336886 Clear cell adenocarcinoma of the urethra disease_ontology DOID:5307 urethra clear cell adenocarcinoma A clear cell adenocarcinoma that is located_in the urethra. url:https://www.ncbi.nlm.nih.gov/pubmed/25685552 NCI:C27414 UMLS_CUI:C1332246 disease_ontology DOID:5308 ampulla of Vater clear cell adenocarcinoma ICDO:8562/3 NCI:C4199 SNOMEDCT_US_2023_03_01:189722008 UMLS_CUI:C0334392 disease_ontology DOID:5309 epithelial-myoepithelial carcinoma A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. DOID:5311 NCI:C40368 UMLS_CUI:C2012261 glycogen-rich carcinoma of breast disease_ontology DOID:5310 glycogen-rich clear cell breast carcinoma A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. url:http://surgpathcriteria.stanford.edu/breast/glycogencabr/ url:https://www.ncbi.nlm.nih.gov/pubmed/24400866 An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. NCI:C40320 UMLS_CUI:C1520069 disease_ontology DOID:5313 vulvar alveolar soft part sarcoma An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/7060986 A fallopian tube cancer that derives_from germ cells. NCI:C40130 UMLS_CUI:C1517114 disease_ontology fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer A fallopian tube cancer that derives_from germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/10202679 A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. DOID:0050536 GARD:7387 MESH:C535687 NCI:C4681 OMIM:268300 ORDO:3103 SNOMEDCT_US_2023_03_01:48718006 UMLS_CUI:C0392475 LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome disease_ontology DOID:5325 OMIM mapping confirmed by DO. [SN]. Roberts syndrome A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. url:https://ghr.nlm.nih.gov/condition/roberts-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20101700 ICD10CM:H33.2 ICD9CM:361.9 MESH:D012163 NCI:C26874 SNOMEDCT_US_2023_03_01:155103005 UMLS_CUI:C0035305 disease_ontology DOID:5327 retinal detachment DOID:11024 ICD10CM:E32 ICD9CM:254 NCI:C26962 SNOMEDCT_US_2023_03_01:20673009 UMLS_CUI:C0154199 disease of thymus gland disease_ontology DOID:533 thymus gland disease A tooth disease located_in dental pulp. MESH:D003788 NCI:C34530 SNOMEDCT_US_2023_03_01:57203004 UMLS_CUI:C0011405 Dental pulp disorder disorder of pulp of tooth pulp disorder disease_ontology DOID:5330 dental pulp disease A tooth disease located_in dental pulp. url:https://en.wikipedia.org/wiki/Pulp_%28tooth%29 url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530 NCI:C6357 UMLS_CUI:C1336709 Granulosa cell tumor of testis Granulosa cell tumour of testis testicular granulosa cell tumour disease_ontology DOID:5331 testicular granulosa cell tumor ICD10CM:N47.2 MESH:D010263 NCI:C34893 SNOMEDCT_US_2023_03_01:155922002 UMLS_CUI:C0030483 disease_ontology DOID:5334 paraphimosis MESH:D005882 NCI:C3948 SNOMEDCT_US_2023_03_01:71708001 UMLS_CUI:C0266919 Gingival polyp epulides polyp of Gum disease_ontology DOID:5337 epulis ICD10CM:D70.4 ICD9CM:288.02 MESH:C536227 NCI:C3820 OMIM:162800 SNOMEDCT_US_2023_03_01:69295006 UMLS_CUI:C0221023 Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis disease_ontology DOID:5339 OMIM mapping confirmed by DO. [SN]. cyclic hematopoiesis NCI:C6752 UMLS_CUI:C1335420 Pineal Region Yolk Sac neoplasm disease_ontology DOID:5341 pineal region yolk sac tumor An endodermal sinus tumor that occurs in children. NCI:C27364 UMLS_CUI:C1333016 childhood endodermal sinus neoplasm childhood endodermal sinus tumour paediatric Yolk Sac tumour pediatric Yolk Sac tumor disease_ontology DOID:5342 childhood endodermal sinus tumor An endodermal sinus tumor that occurs in children. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor DOID:6051 NCI:C6209 NCI:C7011 SNOMEDCT_US_2023_03_01:1197280002 UMLS_CUI:C1337040 UMLS_CUI:C1377613 Yolk Sac tumor of the CNS Yolk Sac tumour of the CNS central nervous system endodermal sinus tumour childhood central nervous system endodermal sinus neoplasm paediatric central nervous system Yolk Sac tumour pediatric central nervous system Yolk Sac tumor disease_ontology DOID:5343 central nervous system endodermal sinus tumor GARD:348 NCI:C8000 UMLS_CUI:C0279708 testicular Yolk Sac neoplasm disease_ontology DOID:5344 testicular yolk sac tumor NCI:C5027 UMLS_CUI:C1334625 malignant Non-Seminomatous germ cell tumor of testis disease_ontology DOID:5345 testicular non-seminomatous germ cell cancer An endodermal sinus tumor that occurs in adults. NCI:C27241 UMLS_CUI:C1332221 adult Yolk Sac neoplasm adult endodermal sinus neoplasm disease_ontology DOID:5348 adult endodermal sinus tumor An endodermal sinus tumor that occurs in adults. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor NCI:C6285 UMLS_CUI:C0280796 central nervous system adult germ cell tumour germ cell tumor of the adult CNS germ cell tumour of the adult CNS disease_ontology DOID:5349 central nervous system adult germ cell tumor An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. NCI:C8107 SNOMEDCT_US_2023_03_01:254876005 UMLS_CUI:C0346188 Endodermal sinus tumor of ovary Endodermal sinus tumour of ovary Ovarian Yolk Sac tumor Ovarian Yolk Sac tumour ovarian endodermal sinus tumour disease_ontology DOID:5350 ovarian endodermal sinus tumor An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. url:https://en.wikipedia.org/wiki/Endodermal_sinus_tumor A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. NCI:C39986 UMLS_CUI:C1518727 disease_ontology DOID:5351 ovarian primitive germ cell tumor A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24576031 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. MESH:D017573 NCI:C97083 OMIM:229045 SNOMEDCT_US_2023_03_01:36949004 UMLS_CUI:C0206067 Heck disease Heck's disease Multifocal epithelial hyperplasia disease_ontology DOID:5362 OMIM mapping confirmed by DO. [SN]. 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. url:https://en.wikipedia.org/wiki/Heck%27s_disease A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. NCI:C40254 UMLS_CUI:C1516419 cervical mesonephric adenocarcinoma disease_ontology DOID:5368 Wolffian duct adenocarcinoma A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. url:https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/ A hemangiopericytoma that is manifested in the breast. NCI:C40396 UMLS_CUI:C1511313 hemangiopericytoma of the breast disease_ontology DOID:5370 breast hemangiopericytoma A hemangiopericytoma that is manifested in the breast. url:https://pubmed.ncbi.nlm.nih.gov/25688313/ NCI:C5386 UMLS_CUI:C1335777 disease_ontology DOID:5373 retroperitoneal hemangiopericytoma DOID:5377 GARD:9452 MESH:D018296 NCI:C7368 OMIM:132600 SNOMEDCT_US_2023_03_01:274901004 UMLS_CUI:C0206711 Pilomatricoma benign pilomatricoma disease_ontology DOID:5374 OMIM mapping confirmed by DO. [SN]. pilomatrixoma MESH:D018296 NCI:C7367 SNOMEDCT_US_2023_03_01:44155009 UMLS_CUI:C0859920 Hair Matrix neoplasm Hair matrix tumour disease_ontology DOID:5375 hair follicle neoplasm NCI:C4114 SNOMEDCT_US_2023_03_01:307610008 UMLS_CUI:C0585475 Pilomatricoma, malignant malignant Pilomatricoma disease_ontology pilomatrix carcinoma of skin DOID:5376 skin pilomatrix carcinoma ICD10CM:D58.2 NCI:C35344 SNOMEDCT_US_2023_03_01:66729008 UMLS_CUI:C0272080 Hb-D disease disease_ontology DOID:5378 hemoglobin D disease GARD:2641 ICD10CM:D58.2 NCI:C35287 SNOMEDCT_US_2023_03_01:25065001 UMLS_CUI:C0238159 Hb-E disease disease_ontology DOID:5379 hemoglobin E disease A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. ICDO:8160/0 MESH:D002759 NCI:C2942 SNOMEDCT_US_2023_03_01:39471001 UMLS_CUI:C0008309 Cholangioadenoma disease_ontology DOID:5381 bile duct adenoma A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. NCI:C40299 UMLS_CUI:C1511048 Bartholin gland adenoma disease_ontology DOID:5382 Bartholin's gland adenoma A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. url:https://en.wikipedia.org/wiki/Adenoma url:https://www.ncbi.nlm.nih.gov/pubmed/18152506 A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. ICDO:8161/0 NCI:C4129 SNOMEDCT_US_2023_03_01:83025009 UMLS_CUI:C0334285 Cystadenoma of the bile duct disease_ontology DOID:5384 bile duct cystadenoma A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/ An adenoma that has_material_basis_in more than one cell type. ICDO:8323/0 NCI:C4157 SNOMEDCT_US_2023_03_01:89773001 UMLS_CUI:C0334323 disease_ontology DOID:5385 mixed cell adenoma An adenoma that has_material_basis_in more than one cell type. url:https://www.ncbi.nlm.nih.gov/pubmed/25002356 A lung benign neoplasm that derives_from glandular epithelial cells. NCI:C4455 SNOMEDCT_US_2023_03_01:254642004 UMLS_CUI:C0345964 adenoma of lung pulmonary adenoma disease_ontology DOID:5386 lung adenoma A lung benign neoplasm that derives_from glandular epithelial cells. url:https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging A sensory organ benign neoplasm that is located_in the middle ear. NCI:C6834 SNOMEDCT_US_2023_03_01:734078009 UMLS_CUI:C1334759 adenoma of the middle ear disease_ontology adenoma of middle ear DOID:5387 middle ear adenoma A sensory organ benign neoplasm that is located_in the middle ear. url:https://www.ncbi.nlm.nih.gov/pubmed/25741045 ICDO:8290/0 MESH:D018249 NCI:C3759 SNOMEDCT_US_2023_03_01:89439007 UMLS_CUI:C1510502 Follicular adenoma, oxyphilic cell Oncocytoma disease_ontology DOID:5389 oxyphilic adenoma DOID:10868 ICD9CM:378.56 MESH:D009886 NCI:C79697 SNOMEDCT_US_2023_03_01:16110005 SNOMEDCT_US_2023_03_01:78097002 UMLS_CUI:C0029089 UMLS_CUI:C0155338 Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis disease_ontology DOID:539 ophthalmoplegia An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. ICDO:8310/0 NCI:C4151 SNOMEDCT_US_2023_03_01:1752006 UMLS_CUI:C0334315 disease_ontology DOID:5390 clear cell adenoma An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151 NCI:C3494 SNOMEDCT_US_2023_03_01:24482001 UMLS_CUI:C0149845 Bronchial adenoma disease_ontology adenoma of the bronchus DOID:5391 bronchus adenoma ICDO:8280/0 MESH:D000239 NCI:C6780 SNOMEDCT_US_2023_03_01:21109002 UMLS_CUI:C0001433 Eosinophil adenoma disease_ontology DOID:5392 acidophil adenoma NCI:C7739 UMLS_CUI:C0238814 disease_ontology DOID:5393 brain angioma GARD:4508 MESH:D015175 NCI:C3342 SNOMEDCT_US_2023_03_01:367098005 UMLS_CUI:C0033375 PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma disease_ontology DOID:5394 OMIM mapping confirmed by DO. [SN]. prolactinoma NCI:C8388 UMLS_CUI:C0854486 Secretory adenoma of the Pituitary gland disease_ontology DOID:5395 functioning pituitary adenoma A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. DOID:6272 NCI:C5962 UMLS_CUI:C1334614 Prolactin Secreting tumor of Pituitary Prolactin Secreting tumour of Pituitary Prolactin-Producing Pituitary Gland Carcinoma malignant Prolactinoma malignant prolactin producing neoplasm of pituitary gland prolactin producing pituitary tumour disease_ontology DOID:5396 prolactin producing pituitary tumor A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910 An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. ICDO:8324/0 NCI:C4159 SNOMEDCT_US_2023_03_01:22024005 UMLS_CUI:C0334325 disease_ontology DOID:5398 lipoadenoma An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. url:http://en.wiktionary.org/wiki/lipoadenoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159 An adenoma that derives_from epithelial cells which have clear cytoplasm. ICDO:8322/0 NCI:C4155 SNOMEDCT_US_2023_03_01:26638004 UMLS_CUI:C0334321 disease_ontology DOID:5401 water-clear cell adenoma An adenoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. NCI:C40256 UMLS_CUI:C1519913 disease_ontology DOID:5402 vaginal adenoma A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. url:https://en.wikipedia.org/wiki/Adenoma A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. ICDO:8202/0 MESH:D000236 NCI:C3685 SNOMEDCT_US_2023_03_01:189580001 UMLS_CUI:C0205648 disease_ontology DOID:5403 microcystic adenoma A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. url:http://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/ url:https://www.ncbi.nlm.nih.gov/pubmed/15559952 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. EFO:0004261 GARD:8615 ICD10CM:M88 MESH:D010001 NCI:C3292 OMIM:PS167250 ORDO:280110 SNOMEDCT_US_2023_03_01:2089002 UMLS_CUI:C0029401 Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans disease_ontology Familial Paget's disease of bone DOID:5408 Xref MGI. MESH:C538098 added from NeuroDevNet [WAK]. 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. 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 url:https://pubmed.ncbi.nlm.nih.gov/37180975/ A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. DOID:0050875 KEGG:05222 MESH:D055752 NCI:C4917 OMIM:182280 SNOMEDCT_US_2023_03_01:254632001 UMLS_CUI:C0149925 disease_ontology DOID:5409 OMIM mapping confirmed by DO. [SN]. lung small cell carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. url:http://en.wikipedia.org/wiki/Small-cell_carcinoma NCI:C5670 SNOMEDCT_US_2023_03_01:707594002 UMLS_CUI:C1334452 disease_ontology DOID:5410 pulmonary neuroendocrine tumor MESH:D018288 NCI:C3915 SNOMEDCT_US_2023_03_01:11010461000119101 UMLS_CUI:C0262584 oat cell carcinoma disease_ontology DOID:5411 lung oat cell carcinoma NCI:C6683 UMLS_CUI:C1335099 Occult small cell carcinoma of the lung disease_ontology occult small cell carcinoma of lung DOID:5414 lung occult small cell carcinoma A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. ICD10CM:F25 ICD9CM:295.7 MESH:D011618 NCI:C94378 SNOMEDCT_US_2023_03_01:231490005 UMLS_CUI:C0036337 disease_ontology DOID:5418 schizoaffective disorder 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 A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 ICD10CM:F20 ICD9CM:295 MESH:D012559 NCI:C3362 OMIM:181500 SNOMEDCT_US_2023_03_01:58214004 UMLS_CUI:C0036341 schizophrenia-1 disease_ontology DOID:5419 Xref MGI. OMIM mapping confirmed by DO. [SN]. schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. url:http://en.wikipedia.org/wiki/Schizophrenia 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. NCI:C9137 UMLS_CUI:C1333125 Combined small cell carcinoma of the lung disease_ontology combined type small cell carcinoma of lung DOID:5421 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. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. ICD10CM:E28.3 MESH:D016649 NCI:C113352 OMIM:PS311360 ORDO:619 SNOMEDCT_US_2023_03_01:237788002 UMLS_CUI:C0085215 hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency disease_ontology DOID:5426 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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:https://pubmed.ncbi.nlm.nih.gov/27861765/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/ NCI:C7414 UMLS_CUI:C1336893 villous adenoma of urinary bladder disease_ontology DOID:5427 urinary bladder villous adenoma NCI:C37266 UMLS_CUI:C1332559 Flat Intraepithelial Lesion of the urinary bladder disease_ontology DOID:5429 bladder flat intraepithelial lesion A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. DOID:544 ICD10CM:G24 MESH:D004421 MESH:D020821 NCI:C34563 OMIM:PS128100 SNOMEDCT_US_2023_03_01:15802004 SNOMEDCT_US_2023_03_01:250068003 UMLS_CUI:C0013421 UMLS_CUI:C0393593 dystonic disease disease_ontology DOID:543 dystonia MESH:D004421 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. url:https://rarediseases.org/rare-diseases/dystonia/ url:https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 url:https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet NCI:C39857 UMLS_CUI:C1511197 urinary bladder Papillary Urothelial neoplasm disease_ontology DOID:5432 bladder papillary transitional cell neoplasm DOID:6120 NCI:C27883 NCI:C6192 SNOMEDCT_US_2023_03_01:733845009 UMLS_CUI:C1334282 UMLS_CUI:C1335329 Inverted papilloma of urinary tract Papillary transitional cell neoplasm of the urinary tract urinary tract inverted papilloma disease_ontology DOID:5433 urinary tract papillary transitional cell benign neoplasm A bile duct adenoma located_in an intrahepatic bile duct. NCI:C7126 UMLS_CUI:C1331535 adenoma of the Intrahepatic bile duct disease_ontology adenoma of intrahepatic bile duct DOID:5437 intrahepatic bile duct adenoma A bile duct adenoma located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/26191317/ url:https://pubmed.ncbi.nlm.nih.gov/31149539/ url:https://pubmed.ncbi.nlm.nih.gov/31798791/ A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. NCI:C5857 SNOMEDCT_US_2023_03_01:1196880004 UMLS_CUI:C1331534 adenoma of the extrahepatic bile duct disease_ontology adenoma of extrahepatic bile duct DOID:5438 extrahepatic bile duct adenoma A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. url:http://www.joplink.net/prev/200803/08.html ICDO:8405/0 MESH:D000074009 NCI:C4171 SNOMEDCT_US_2023_03_01:89791006 UMLS_CUI:C0334348 disease_ontology DOID:5439 papillary hidradenoma MESH:D018250 NCI:C7568 SNOMEDCT_US_2023_03_01:254719003 UMLS_CUI:C0206671 Eccrine hidradenoma Eccrine hidradenoma of skin Poroma disease_ontology DOID:5442 eccrine acrospiroma NCI:C7567 SNOMEDCT_US_2023_03_01:254719003 UMLS_CUI:C1370701 Clear cell myoepithelioma disease_ontology DOID:5443 clear cell hidradenoma DOID:1617 ICDO:8403/0 NCI:C4170 SNOMEDCT_US_2023_03_01:403938001 UMLS_CUI:C0334347 Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma disease_ontology DOID:5444 spiradenoma GARD:5100 ICDO:8406/0 MESH:D000074009 NCI:C4172 SNOMEDCT_US_2023_03_01:8934006 UMLS_CUI:C0406803 papillary syringadenoma disease_ontology DOID:5445 syringocystadenoma papilliferum A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. GARD:10463 ICDO:8408/0 NCI:C4173 SNOMEDCT_US_2023_03_01:253021007 UMLS_CUI:C0334350 Eccrine papillary adenoma of skin papillary eccrine adenoma disease_ontology DOID:5446 eccrine papillary adenoma A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. url:http://pubs.sciepub.com/ajmcr/4/9/3/ url:https://www.ncbi.nlm.nih.gov/pubmed/29582790 A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. GARD:10153 MESH:D011668 NCI:C85039 OMIM:PS265450 ORDO:31837 SNOMEDCT_US_2023_03_01:89420002 UMLS_CUI:C0034091 pulmonary veno-occlusive disease disease_ontology DOID:5453 OMIM has split this term into two subtypes. pulmonary venoocclusive disease A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. url:https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/ url:https://pubmed.ncbi.nlm.nih.gov/27009171/ url:https://pubmed.ncbi.nlm.nih.gov/28118962/ url:https://pubmed.ncbi.nlm.nih.gov/32252933/ NCI:C6023 SNOMEDCT_US_2023_03_01:707625001 UMLS_CUI:C1334374 laryngeal neuroendocrine tumour neuroendocrine tumor of Larynx neuroendocrine tumour of Larynx disease_ontology DOID:5457 laryngeal neuroendocrine tumor A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. NCI:C6120 SNOMEDCT_US_2023_03_01:418134006 UMLS_CUI:C1333148 Intraepithelial Neoplasia of Conjunctiva disease_ontology DOID:5465 conjunctival intraepithelial neoplasm A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/ url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 DOID:1750 ICD10CM:C69.0 ICD9CM:190.3 MESH:D003230 NCI:C2961 NCI:C3564 SNOMEDCT_US_2023_03_01:126996004 SNOMEDCT_US_2023_03_01:93764002 UMLS_CUI:C0009761 UMLS_CUI:C0153628 Conjunctival tumor malignant Conjunctival tumor malignant neoplasm of conjunctiva malignant tumor of conjunctiva neoplasm of conjunctiva disease_ontology DOID:5467 conjunctival cancer A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. NCI:C65198 SNOMEDCT_US_2023_03_01:128663007 UMLS_CUI:C1266038 bile duct papillomatosis disease_ontology DOID:5468 biliary papillomatosis A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. url:https://www.ncbi.nlm.nih.gov/pubmed/21988050 NCI:C37215 disease_ontology DOID:5469 biliary tract intraductal papillary mucinous neoplasm An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. NCI:C40031 UMLS_CUI:C1518729 disease_ontology DOID:5474 ovarian serous adenofibroma An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. url:https://www.ncbi.nlm.nih.gov/pubmed/26881611 An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C6337 UMLS_CUI:C1336901 adenofibroma of Corpus Uteri disease_ontology adenofibroma of uterine corpus DOID:5475 uterine corpus adenofibroma An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://jcp.bmj.com/content/63/4/377.1.short A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40230 UMLS_CUI:C1516402 disease_ontology DOID:5476 cervical adenofibroma A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/12410376 An adenofibroma that is characterized by the presence of cells with clear cytoplasm. ICDO:8313/0 MESH:D062625 NCI:C8985 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C0334317 disease_ontology DOID:5477 clear cell adenofibroma An adenofibroma that is characterized by the presence of cells with clear cytoplasm. url:http://www.jcancer.org/v02p0094.htm url:https://www.ncbi.nlm.nih.gov/pubmed/24721826 A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40113 UMLS_CUI:C1517109 disease_ontology DOID:5478 fallopian tube adenofibroma A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/ An adenofibroma that is characterized by finger-like projections on histology. NCI:C8986 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C1377850 disease_ontology DOID:5479 papillary adenofibroma An adenofibroma that is characterized by finger-like projections on histology. url:https://www.ncbi.nlm.nih.gov/pubmed/1595599 An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. NCI:C27287 disease_ontology DOID:5480 ovarian endometrioid adenofibroma An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/9631607 An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. MESH:D062625 NCI:C8985 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C0334317 disease_ontology DOID:5482 cystadenofibroma An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. url:http://www.ajronline.org/cgi/content/full/182/5/1259 NCI:C6533 UMLS_CUI:C1333616 fibrous sarcoma of Synovium disease_ontology DOID:5484 fibrous synovial sarcoma A synovium cancer which develops in the synovial membrane of the joints. GARD:7721 ICDO:9040/3 MESH:D013584 NCI:C3400 OMIM:300813 SNOMEDCT_US_2023_03_01:63211008 UMLS_CUI:C0039101 disease_ontology DOID:5485 Xref MGI. synovial sarcoma 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 NCI:C4277 SNOMEDCT_US_2023_03_01:37206003 UMLS_CUI:C0334505 Synovial sarcoma with spindle cell Components Synovial sarcoma, monophasic fibrous disease_ontology DOID:5487 spindle cell synovial sarcoma A synovial sarcoma that is located_in the mediastinum. NCI:C6618 UMLS_CUI:C1334681 Synovial sarcoma of mediastinum disease_ontology DOID:5488 mediastinum synovial sarcoma A synovial sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ NCI:C4279 SNOMEDCT_US_2023_03_01:18588008 UMLS_CUI:C0334507 Biphasic sarcoma of Synovium Synovial sarcoma, biphasic disease_ontology DOID:5492 biphasic synovial sarcoma NCI:C4278 SNOMEDCT_US_2023_03_01:56422000 UMLS_CUI:C0334506 Synovial sarcoma, epithelioid cell epithelioid Synovial sarcoma disease_ontology DOID:5494 epithelioid cell synovial sarcoma NCI:C6534 UMLS_CUI:C1334801 Monophasic sarcoma of Synovium disease_ontology DOID:5495 monophasic synovial sarcoma MESH:D004806 NCI:C4713 SNOMEDCT_US_2023_03_01:57706008 UMLS_CUI:C1384403 disease_ontology DOID:5500 cellular ependymoma A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. DOID:5490 DOID:5523 ICD10CM:B85.2 ICD9CM:132.9 MESH:D010373 NCI:C128401 SNOMEDCT_US_2023_03_01:74949007 UMLS_CUI:C0030756 Infestation by Pediculus Louse infestation Pediculosis + lice Pediculosis and phthirus infections Pediculosis and phthirus infestation mixed pediculosis mixed pediculosis infestation pediculosis pediculosis and phthirus infection disease_ontology DOID:5502 lice infestation 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 A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. ICDO:9391/3 NCI:C3875 SNOMEDCT_US_2023_03_01:254949006 UMLS_CUI:C0238432 Ependymal neoplasm of the Spinal Cord Spinal ependymoma disease_ontology DOID:5503 spinal cord ependymoma A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. url:http://www.cancer.gov/dictionary?CdrID=46432 NCI:C6903 SNOMEDCT_US_2023_03_01:57706008 UMLS_CUI:C1370500 disease_ontology DOID:5504 tanycytic ependymoma ICDO:9393/3 MESH:D004806 NCI:C4319 SNOMEDCT_US_2023_03_01:112686007 UMLS_CUI:C0334578 disease_ontology DOID:5505 papillary ependymoma A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. NCI:C5098 SNOMEDCT_US_2023_03_01:107561000119107 UMLS_CUI:C1332609 Ependymoma of the Brainstem disease_ontology DOID:5508 brain stem ependymoma A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma NCI:C8578 disease_ontology DOID:5509 childhood ependymoma NCI:C7169 UMLS_CUI:C1335415 disease_ontology DOID:5510 pineal dysgerminoma A dysgerminoma that is located_in the ovary. NCI:C8106 SNOMEDCT_US_2023_03_01:254874008 UMLS_CUI:C0346185 Ovarian Dysgerminoma disease_ontology DOID:5511 dysgerminoma of ovary A dysgerminoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 A breast metaplastic carcinoma that arises from squamous epithelial cells. DOID:7300 NCI:C5177 UMLS_CUI:C1336079 SCC of breast breast primary squamous cell carcinoma primary squamous cell carcinoma of the breast disease_ontology primary squamous cell carcinoma of breast squamous cell carcinoma of breast DOID:5514 breast squamous cell carcinoma A breast metaplastic carcinoma that arises from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/ A nasal cavity carcinoma that has_material_basis_in squamous cells. MESH:D000077195 NCI:C8192 UMLS_CUI:C0280333 squamous cell carcinoma of the nasal cavity disease_ontology squamous cell carcinoma of nasal cavity DOID:5515 nasal cavity squamous cell carcinoma A nasal cavity carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the stomach. NCI:C5475 SNOMEDCT_US_2023_03_01:766980008 UMLS_CUI:C1333789 squamous cell carcinoma of stomach disease_ontology DOID:5516 gastric squamous cell carcinoma A squamous cell carcinoma that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/21113875 A stomach cancer that is located_in the stomach. EFO:0000178 NCI:C4911 SNOMEDCT_US_2023_03_01:154446008 UMLS_CUI:C0699791 cancer of the stomach carcinoma of stomach gastric carcinoma disease_ontology DOID:5517 stomach carcinoma A stomach cancer that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_cancer A penis carcinoma that has_material_basis_in squamous cells. DOID:8008 NCI:C6979 NCI:C7729 SNOMEDCT_US_2023_03_01:403468003 UMLS_CUI:C0238348 UMLS_CUI:C1336081 Epidermoid cell carcinoma of penis disease_ontology squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma A penis carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the colon. NCI:C5490 SNOMEDCT_US_2023_03_01:766981007 UMLS_CUI:C1333100 Colonic Epidermoid carcinoma disease_ontology squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma A squamous cell carcinoma that is located_in the colon. url:https://www.ncbi.nlm.nih.gov/pubmed/10211528 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:5871 MESH:D011014 NCI:C3333 SNOMEDCT_US_2023_03_01:266391003 UMLS_CUI:C0032285 acute pneumonia disease_ontology DOID:552 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. url:http://en.wikipedia.org/wiki/Pneumonia A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. GARD:8503 MESH:D000077195 NCI:C34447 OMIM:275355 SNOMEDCT_US_2023_03_01:716659002 UMLS_CUI:C1168401 carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck disease_ontology DOID:5520 OMIM mapping confirmed by DO. [SN]. 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. 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 A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. NCI:C4105 SNOMEDCT_US_2023_03_01:18048008 UMLS_CUI:C0334247 keratinizing epidermoid carcinoma squamous cell carcinoma, keratinizing disease_ontology DOID:5521 keratinizing squamous cell carcinoma A squamous cell carcinoma that presents as single, isolated cells with bizarre 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 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. ICDO:8083/3 NCI:C54244 SNOMEDCT_US_2023_03_01:128634009 UMLS_CUI:C1266005 Basaloid carcinoma disease_ontology DOID:5522 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. url:https://www.ncbi.nlm.nih.gov/pubmed/19738459 A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. DOID:6593 NCI:C4200 SNOMEDCT_US_2023_03_01:15176003 SNOMEDCT_US_2023_03_01:85956000 UMLS_CUI:C0334250 UMLS_CUI:C0334393 Acantholytic squamous cell carcinoma Pseudoglandular squamous carcinoma adenoacanthoma adenocarcinoma with squamous metaplasia disease_ontology DOID:5524 adenoid squamous cell 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 An anal carcinoma that arises near the squamocolumnar junction. NCI:C9161 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C1412036 Epidermoid anal carcinoma disease_ontology DOID:5525 anal squamous cell carcinoma An anal carcinoma that arises near the squamocolumnar junction. url:http://en.wikipedia.org/wiki/Anal_cancer A middle ear carcinoma that has_material_basis_in squamous cells. NCI:C6086 UMLS_CUI:C1334762 Epidermoid carcinoma of the middle ear disease_ontology squamous cell carcinoma of middle ear DOID:5526 middle ear squamous cell carcinoma A middle ear carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. NCI:C27417 UMLS_CUI:C1332251 disease_ontology DOID:5527 ampulla of Vater squamous cell carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the rectum. NCI:C5554 SNOMEDCT_US_2023_03_01:766979005 UMLS_CUI:C1335690 squamous carcinoma of rectum disease_ontology squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma A squamous cell carcinoma that is located_in the rectum. url:https://www.ncbi.nlm.nih.gov/pubmed/25956212 A squamous cell carcinoma that is located_in the lacrimal gland. NCI:C6092 UMLS_CUI:C5447980 Epidermoid carcinoma of the lacrimal gland disease_ontology squamous cell carcinoma of lacrimal gland DOID:5529 lacrimal gland squamous cell carcinoma A squamous cell carcinoma that is located_in the lacrimal gland. url:https://www.ncbi.nlm.nih.gov/pubmed/12724709 A squamous cell carcinoma that is located_in the thymus. NCI:C6455 UMLS_CUI:C1336082 Epidermoid Thymic carcinoma disease_ontology DOID:5530 thymus squamous cell carcinoma A squamous cell carcinoma that is located_in the thymus. url:https://www.ncbi.nlm.nih.gov/pubmed/23235139 An ovarian carcinoma that derives_from squamous epithelial cells. DOID:5532 NCI:C40093 UMLS_CUI:C2019443 ovarian squamous cell neoplasm squamous cell carcinoma of ovary disease_ontology DOID:5531 ovarian squamous cell carcinoma An ovarian carcinoma that derives_from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25511544 An ovary epithelial cancer that has_material_basis_in squamous cells. disease_ontology DOID:5532 Retired NCI concept. obsolete ovarian squamous cell neoplasm true An ovary epithelial cancer that has_material_basis_in squamous cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25511544 An endometrial carcinoma that has_material_basis_in squamous cells. NCI:C8719 SNOMEDCT_US_2023_03_01:733359005 UMLS_CUI:C1333396 squamous cell carcinoma of Endometrium disease_ontology DOID:5533 endometrial squamous cell carcinoma An endometrial carcinoma that has_material_basis_in squamous cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24615329 A squamous cell carcinoma that is located_in the renal pelvis. NCI:C7732 UMLS_CUI:C0238409 Epidermoid carcinoma of the kidney Pelvis disease_ontology squamous cell carcinoma of renal pelvis DOID:5534 renal pelvis squamous cell carcinoma A squamous cell carcinoma that is located_in the renal pelvis. url:https://www.ncbi.nlm.nih.gov/pubmed/24493112 A squamous cell carcinoma that is located_in the gallbladder. NCI:C9170 UMLS_CUI:C0279658 Epidermoid gallbladder carcinoma disease_ontology squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma A squamous cell carcinoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/26236536 NCI:C27084 SNOMEDCT_US_2023_03_01:10288008 UMLS_CUI:C0349656 spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell skin carcinoma spindle cell squamous carcinoma of skin spindle cell squamous cell carcinoma squamous cell carcinoma, sarcomatoid disease_ontology DOID:5536 sarcomatoid squamous cell skin carcinoma A squamous cell carcinoma that is located_in the bile duct. NCI:C5777 UMLS_CUI:C0861861 bile duct squamous cell carcinoma disease_ontology DOID:5537 squamous cell bile duct carcinoma A squamous cell carcinoma that is located_in the bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/15767732 A squamous cell carcinoma that is located_in the external ear. NCI:C6083 UMLS_CUI:C1333494 Epidermoid carcinoma of the External ear disease_ontology squamous cell carcinoma of external ear DOID:5538 external ear squamous cell carcinoma A squamous cell carcinoma that is located_in the external ear. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/ A squamous cell carcinoma that is located_in the ureter. NCI:C6154 UMLS_CUI:C1336879 ureteral Epidermoid carcinoma disease_ontology DOID:5539 ureter squamous cell carcinoma A squamous cell carcinoma that is located_in the ureter. url:https://www.ncbi.nlm.nih.gov/pubmed/17574059 A fallopian tube carcinoma that derives_from squamous epithelial cells. NCI:C6282 UMLS_CUI:C1333596 squamous cell carcinoma of the fallopian tube disease_ontology DOID:5540 fallopian tube squamous cell carcinoma A fallopian tube carcinoma that derives_from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/22707217 NCI:C5603 UMLS_CUI:C1332273 anal neuroendocrine tumour neuroendocrine tumor of anus neuroendocrine tumour of anus disease_ontology DOID:5545 anal neuroendocrine tumor A choriocarcinoma that is located_in the pulmonary artery. NCI:C5381 UMLS_CUI:C1335571 Syncytioma of pulmonary artery disease_ontology DOID:5547 pulmonary artery choriocarcinoma A choriocarcinoma that is located_in the pulmonary artery. url:https://www.ncbi.nlm.nih.gov/pubmed/11834687 A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. NCI:C4515 SNOMEDCT_US_2023_03_01:254870004 UMLS_CUI:C0346181 Ovarian Choriocarcinoma disease_ontology DOID:5550 choriocarcinoma of ovary A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/ A choriocarcinoma that is located_in the testis. NCI:C7733 SNOMEDCT_US_2023_03_01:147371000119101 UMLS_CUI:C0238449 testicular Choriocarcinoma disease_ontology DOID:5551 choriocarcinoma of the testis A choriocarcinoma that is located_in the testis. url:https://www.ncbi.nlm.nih.gov/pubmed/24949806 NCI:C6759 UMLS_CUI:C1335414 Pineal Choriocarcinoma disease_ontology DOID:5553 pineal region choriocarcinoma NCI:C9063 SNOMEDCT_US_2023_03_01:713646001 UMLS_CUI:C0855197 malignant germ cell tumor of testis disease_ontology DOID:5556 testicular malignant germ cell cancer A testicular cancer that has_material_basis_in germ cells. MESH:C563236 NCI:C8591 OMIM:273300 OMIM:300228 ORDO:3636504 SNOMEDCT_US_2023_03_01:713577007 UMLS_CUI:C1336708 germ cell tumor of testis disease_ontology testicular germ cell neoplasm DOID:5557 Xref MGI. OMIM mapping confirmed by DO. [LS]. testicular germ cell cancer 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 A thoracic cancer that is located_in the mediastinum. DOID:9914 ICD10CM:C38.3 ICD9CM:164.9 MESH:D008479 NCI:C3221 NCI:C3549 SNOMEDCT_US_2023_03_01:363494000 SNOMEDCT_US_2023_03_01:94147001 UMLS_CUI:C0025063 UMLS_CUI:C0153504 Tumour of mediastinum mediastinal tumor mediastinum cancer neoplasm of mediastinum disease_ontology DOID:5559 mediastinal cancer A thoracic cancer that is located_in the mediastinum. url:http://en.wikipedia.org/wiki/Mediastinal NCI:C6637 UMLS_CUI:C1334669 mediastinal mesenchymal tumour soft tissue tumor of mediastinum soft tissue tumour of mediastinum disease_ontology DOID:5560 mediastinal mesenchymal tumor A teratoma that is located_in the stomach or other gastric tissue. NCI:C5259 UMLS_CUI:C1333790 teratoma of stomach disease_ontology DOID:5561 gastric teratoma A teratoma that is located_in the stomach or other gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/26850909 A teratoma that is cancerous. DOID:6106 ICDO:9080/3 MESH:D013724 NCI:C4286 NCI:C8884 SNOMEDCT_US_2023_03_01:1157239001 UMLS_CUI:C0334520 UMLS_CUI:C0855163 Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma disease_ontology DOID:5563 malignant teratoma A teratoma that is cancerous. url:https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. NCI:C40131 UMLS_CUI:C1517127 disease_ontology DOID:5564 fallopian tube teratoma A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. url:https://www.ncbi.nlm.nih.gov/pubmed/14127249 A benign teratoma that is present in an adult. NCI:C9013 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368898 disease_ontology DOID:5565 adult teratoma A benign teratoma that is present in an adult. url:https://www.sciencedirect.com/science/article/pii/B9780702031311000353 A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. ICDO:9080/0 NCI:C9015 SNOMEDCT_US_2023_03_01:55818009 UMLS_CUI:C1368910 disease_ontology DOID:5566 mature teratoma A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma NCI:C8110 SNOMEDCT_US_2023_03_01:716077006 UMLS_CUI:C0280131 germ cell teratoma of Ovary disease_ontology DOID:5567 ovarian germ cell teratoma A teratoma that is located_in the mediastinum. NCI:C6438 UMLS_CUI:C1334682 teratoma of mediastinum disease_ontology DOID:5568 mediastinum teratoma A teratoma that is located_in the mediastinum. url:https://radiopaedia.org/articles/mediastinal-teratoma, url:https://www.sciencedirect.com/science/article/pii/S1755001709000323 A urinary system disease that is located_in the kidney. DOID:11705 EFO:0003086 ICD10CM:N08 MESH:D007674 NCI:C3149 SNOMEDCT_US_2023_03_01:266612003 UMLS_CUI:C0022658 impaired renal function disease nephropathy disease_ontology DOID:557 kidney disease A urinary system disease that is located_in the kidney. url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html NCI:C43345 SNOMEDCT_US_2023_03_01:403939009 UMLS_CUI:C1260964 Eccrine ductal carcinoma Eccrine ductal carcinoma of skin anaplastic syringoma disease_ontology DOID:5570 malignant acrospiroma A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. GARD:3343 ICD10CM:Q87.3 MESH:D001506 NCI:C34415 OMIM:130650 ORDO:116 SNOMEDCT_US_2023_03_01:81780002 UMLS_CUI:C0004903 disease_ontology DOID:5572 OMIM mapping confirmed by DO. [SN]. Beckwith-Wiedemann syndrome MESH:D001506 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 GARD:5493 ICDO:8155/3 MESH:D003969 NCI:C26749 SNOMEDCT_US_2023_03_01:447643008 UMLS_CUI:C0011993 VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor disease_ontology DOID:5574 VIPoma ICD10CM:F52.32 NCI:C34959 SNOMEDCT_US_2023_03_01:81903006 UMLS_CUI:C0033949 male Orgasmic disorder disease_ontology DOID:5576 inhibited male orgasm A neuroendocrine tumor that results_in an overproduction of gastric acid. ICDO:8153/3 MESH:D015408 NCI:C3050 SNOMEDCT_US_2023_03_01:16189002 UMLS_CUI:C0017150 Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma disease_ontology DOID:5577 gastrinoma A neuroendocrine tumor that results_in an overproduction of gastric acid. url:http://www.cancer.gov/dictionary?CdrID=44239 NCI:C27444 UMLS_CUI:C1333767 gastric G-cell gastrin producing tumor disease_ontology DOID:5579 gastric gastrinoma NCI:C9069 UMLS_CUI:C1368066 pancreatic G-cell tumor disease_ontology DOID:5580 pancreatic gastrinoma A lung carcinoma that is located_in large undifferentiated cells. DOID:5584 MESH:D018286 NCI:C3779 NCI:C4452 SNOMEDCT_US_2023_03_01:254631008 SNOMEDCT_US_2023_03_01:42596004 UMLS_CUI:C0206703 UMLS_CUI:C0345960 Giant cell carcinoma Giant cell lung carcinoma disease_ontology DOID:5583 lung giant cell carcinoma A lung carcinoma that is located_in large undifferentiated cells. url:http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma NCI:C4461 SNOMEDCT_US_2023_03_01:254659009 UMLS_CUI:C0345982 Multiple self-healing epithelioma of Ferguson-Smith disease_ontology DOID:5585 Ferguson-Smith tumor A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. ICD10CM:T79.6 ICD9CM:958.6 MESH:D054061 NCI:C35130 SNOMEDCT_US_2023_03_01:157667008 UMLS_CUI:C0042951 Volkmann's ischemic contracture disease_ontology DOID:5587 Volkmann contracture A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. url:https://www.ncbi.nlm.nih.gov/pubmed/26815829 A papillary adenocarcinoma that is located_in the lung. NCI:C5650 SNOMEDCT_US_2023_03_01:1260068009 UMLS_CUI:C1335325 Papillary adenocarcinoma of the lung disease_ontology DOID:5588 lung papillary adenocarcinoma A papillary adenocarcinoma that is located_in the lung. url:https://radiopaedia.org/articles/mediastinal-teratoma url:https://www.ncbi.nlm.nih.gov/pubmed/26766978 ICD10CM:N10 ICD9CM:590.1 NCI:C123215 SNOMEDCT_US_2023_03_01:155862004 UMLS_CUI:C0520575 disease_ontology DOID:559 acute pyelonephritis A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. DOID:6800 NCI:C6870 UMLS_CUI:C1336027 Papillary carcinoma of the breast breast solid papillary carcinoma disease_ontology papillary carcinoma of breast solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/ A papillary adenocarcinoma that is located_in the stomach. NCI:C5472 UMLS_CUI:C1333785 Papillary adenocarcinoma of stomach disease_ontology DOID:5593 gastric papillary adenocarcinoma A papillary adenocarcinoma that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/11984707 NCI:C27937 UMLS_CUI:C1335327 Papillary carcinoma of the Thymus disease_ontology DOID:5595 papillary thymic adenocarcinoma A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. NCI:C6267 UMLS_CUI:C1333595 Papillary adenocarcinoma of the fallopian tube disease_ontology DOID:5597 fallopian tube papillary adenocarcinoma A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/ A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40099 UMLS_CUI:C1517124 disease_ontology DOID:5598 fallopian tube serous adenocarcinoma A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/25163242 An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. NCI:C9142 UMLS_CUI:C0279592 ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia disease_ontology DOID:5602 T-cell adult acute lymphocytic leukemia An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142 An acute lymphocytic leukemia occurring during adulthood. NCI:C4967 UMLS_CUI:C0751606 adult ALL adult acute lymphoid Leukemia disease_ontology DOID:5604 adult acute lymphocytic leukemia An acute lymphocytic leukemia occurring during adulthood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967 A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. NCI:C9119 UMLS_CUI:C0860580 Medullary breast carcinoma with lymphoid Stroma disease_ontology medullary carcinoma of breast DOID:5605 breast medullary carcinoma A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. url:http://surgpathcriteria.stanford.edu/breast/medcabr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/24065502 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:7225 ICD10CM:C72.0 ICD9CM:192.2 MESH:D013120 MESH:D013125 NCI:C168693 NCI:C3381 NCI:C3572 SNOMEDCT_US_2023_03_01:126962006 SNOMEDCT_US_2023_03_01:709289008 SNOMEDCT_US_2023_03_01:94068003 UMLS_CUI:C0037930 UMLS_CUI:C0037939 UMLS_CUI:C0153646 Intraspinal tumor malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm tumor of the Spinal Cord disease_ontology spinal neoplasm DOID:5612 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). url:http://en.wikipedia.org/wiki/Spinal_tumor An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2023_03_01:371409005 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease An eye and adnexa disease that is located_in the eye. url:http://en.wikipedia.org/wiki/Eye_disease NCI:C5135 UMLS_CUI:C1334255 Intradural Extramedullary Spinal tumors disease_ontology DOID:5615 spinal canal intradural extramedullary neoplasm NCI:C27598 SNOMEDCT_US_2023_03_01:60750009 UMLS_CUI:C0271353 Oculomotor nerve disorder disorder of oculomotor nerve disease_ontology DOID:562 third cranial nerve disease A sarcoma and hematologic cancer that derives_from follicular lymphoma. NCI:C9294 UMLS_CUI:C1334030 histiocytic and dendritic cell disease_ontology DOID:5621 histiocytic and dendritic cell cancer A sarcoma and hematologic cancer that derives_from follicular lymphoma. url:http://www.springerlink.com/content/h9wrn7p72x26q035/ A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. NCI:C40361 UMLS_CUI:C1510796 disease_ontology DOID:5623 adenosquamous breast carcinoma A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. url:https://www.nature.com/articles/modpathol201082 A bile duct carcinoma that derives_from squamous cells and gland-like cells. NCI:C5778 UMLS_CUI:C0861854 bile duct Adenosquamous carcinoma disease_ontology DOID:5624 adenosquamous bile duct carcinoma A bile duct carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. NCI:C27421 disease_ontology DOID:5625 esophageal adenosquamous carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. NCI:C6458 UMLS_CUI:C1332171 Adenosquamous carcinoma of the Thymus disease_ontology DOID:5626 thymus adenosquamous carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. NCI:C7356 UMLS_CUI:C1333741 Adenosquamous carcinoma of the gallbladder disease_ontology adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. NCI:C27418 UMLS_CUI:C1332245 disease_ontology DOID:5628 ampulla of Vater adenosquamous carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. NCI:C5491 UMLS_CUI:C1333082 Colonic Adenosquamous carcinoma disease_ontology adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. NCI:C40296 UMLS_CUI:C1511050 Bartholin gland adenosquamous carcinoma disease_ontology DOID:5630 Bartholin's gland adenosquamous carcinoma A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma NCI:C4538 SNOMEDCT_US_2023_03_01:254978007 UMLS_CUI:C0346328 meningioma of optic nerve sheath disease_ontology DOID:5632 optic nerve sheath meningioma A prostate carcinoma that derives_from squamous cells and gland-like cells. NCI:C5538 UMLS_CUI:C1335503 Adenosquamous carcinoma of the prostate disease_ontology adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma A prostate carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma NCI:C5474 UMLS_CUI:C1333761 Adenosquamous carcinoma of stomach disease_ontology DOID:5635 gastric adenosquamous carcinoma A cervical carcinoma that derives_from squamous cells and gland-like cells. NCI:C4519 SNOMEDCT_US_2023_03_01:254888007 UMLS_CUI:C0346202 Adenosquamous carcinoma of cervix Adenosquamous cell carcinoma of the Cervix Uteri disease_ontology DOID:5636 cervical adenosquamous carcinoma A cervical carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. NCI:C5721 UMLS_CUI:C1335299 Adenosquamous carcinoma of pancreas disease_ontology adenosquamous carcinoma of the pancreas DOID:5637 pancreatic adenosquamous carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721 url:https://www.ncbi.nlm.nih.gov/pubmed/24859531 ICDO:9251/3 NCI:C8380 SNOMEDCT_US_2023_03_01:48460009 UMLS_CUI:C0334554 malignant Giant cell neoplasm of soft Parts disease_ontology DOID:5638 malignant giant cell tumor of soft parts NCI:C39955 UMLS_CUI:C1514912 disease_ontology DOID:5639 rete testis neoplasm A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. NCI:C27216 UMLS_CUI:C0865849 disease_ontology DOID:5641 diffuse pulmonary fibrosis A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. NCI:C27103 SNOMEDCT_US_2023_03_01:233726000 UMLS_CUI:C0340127 disease_ontology DOID:5642 localized pulmonary fibrosis A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 NCI:C39872 UMLS_CUI:C1519828 disease_ontology DOID:5643 urethral villous adenoma A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. DOID:5647 GARD:8238 ICDO:9390/3 MESH:C562943 NCI:C4533 NCI:C4715 SNOMEDCT_US_2023_03_01:1156471001 SNOMEDCT_US_2023_03_01:188292007 UMLS_CUI:C0346289 UMLS_CUI:C0431109 disease_ontology DOID:5648 choroid plexus carcinoma 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 A neuropathy that is located_in one of the twelve cranial nerves. ICD10CM:G52.9 ICD9CM:352.9 MESH:D003389 NCI:C26733 SNOMEDCT_US_2023_03_01:73013002 UMLS_CUI:C0010266 Cranial nerve disorder disorder of cranial nerve disease_ontology DOID:5656 cranial nerve disease 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 A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. ICDO:8314/3 NCI:C4152 SNOMEDCT_US_2023_03_01:189655006 UMLS_CUI:C0334318 disease_ontology DOID:5658 lipid-rich carcinoma A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. url:http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html url:https://www.ncbi.nlm.nih.gov/pubmed/25789031, A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. NCI:C4107 SNOMEDCT_US_2023_03_01:764938007 UMLS_CUI:C0334254 Nasopharyngeal type Undifferentiated carcinoma lymphoepithelial carcinoma disease_ontology DOID:5660 lymphoepithelioma-like carcinoma A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/ A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. ICDO:8022/3 NCI:C4094 SNOMEDCT_US_2023_03_01:16741004 UMLS_CUI:C0334233 disease_ontology DOID:5662 pleomorphic carcinoma A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. url:https://pubmed.ncbi.nlm.nih.gov/35361152/ An ear cancer that is located_in the external ear. NCI:C4653 SNOMEDCT_US_2023_03_01:277156006 UMLS_CUI:C0349576 malignant neoplasm of the External ear malignant tumor of external ear disease_ontology DOID:5665 external ear cancer An ear cancer that is located_in the external ear. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null NCI:C6938 SNOMEDCT_US_2023_03_01:254708001 UMLS_CUI:C1412016 carcinoma of the Sweat gland disease_ontology DOID:5667 sweat gland carcinoma A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. NCI:C4188 SNOMEDCT_US_2023_03_01:36425007 UMLS_CUI:C0334370 Comedocarcinoma disease_ontology DOID:5670 comedo carcinoma A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. url:http://www.cancer.gov/dictionary/?CdrID=44330 url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188 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 ICD10CM:C18.9 NCI:C4978 SNOMEDCT_US_2023_03_01:93854002 UMLS_CUI:C0346629 disease_ontology DOID:5672 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. url:http://en.wikipedia.org/wiki/Large_intestine A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. ICDO:8201/3 MESH:D000230 NCI:C3680 SNOMEDCT_US_2023_03_01:30156004 UMLS_CUI:C0205643 ductal carcinoma, cribriform type disease_ontology DOID:5675 cribriform carcinoma A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. url:http://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/24938660, An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. NCI:C8885 UMLS_CUI:C1334582 primary malignant Extragonadal Nonseminoma disease_ontology DOID:5677 malignant 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. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous url:http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1 An eye disease that is located_in the retina. ICD10CM:H35.9 ICD9CM:362.9 MESH:D012164 NCI:C26875 SNOMEDCT_US_2023_03_01:29555009 UMLS_CUI:C0035309 disease_ontology DOID:5679 retinal disease An eye disease that is located_in the retina. url:http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders An embryonal carcinoma that is located_in the testis. NCI:C6341 UMLS_CUI:C0238448 Embryonal carcinoma of testis testicular embryonal carcinoma disease_ontology embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma An embryonal carcinoma that is located_in the testis. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma An embryonal carcinoma that is located_in the ovary. NCI:C8108 SNOMEDCT_US_2023_03_01:254872007 UMLS_CUI:C0346183 Embryonal carcinoma of ovary Embryonal carcinoma of the Ovary disease_ontology DOID:5681 ovarian embryonal carcinoma An embryonal carcinoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. MESH:D061325 NCI:C8493 SNOMEDCT_US_2023_03_01:718220008 UMLS_CUI:C0677776 BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer disease_ontology DOID:5683 Xref MGI. hereditary breast ovarian cancer syndrome A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 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 url:https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet url:https://www.ncbi.nlm.nih.gov/books/NBK1247/ A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. NCI:C92206 OMIM:271510 UMLS_CUI:C0920349 Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia disease_ontology DOID:5684 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. url:http://omim.org/entry/271510 url:https://www.ncbi.nlm.nih.gov/pubmed/10797420 A progeroid syndrome 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 and that has_material_basis_in mutations in the WRN gene, on chromosome 8. GARD:7885 MESH:D014898 NCI:C3447 OMIM:277700 ORDO:902 SNOMEDCT_US_2023_03_01:51626007 UMLS_CUI:C0043119 WS Werner's syndrome adult premature ageing syndrome adult progeria disease_ontology DOID:5688 OMIM mapping confirmed by DO. [LS]. Werner syndrome A progeroid syndrome 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 and that has_material_basis_in mutations in the WRN gene, on chromosome 8. url:https://en.wikipedia.org/wiki/Werner_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15946710 url:https://www.ncbi.nlm.nih.gov/pubmed/9288107 A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. MESH:D008080 NCI:C176979 ORDO:99971 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C1370889 atypical lipomatous tumor disease_ontology DOID:5690 well-differentiated liposarcoma A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/26645460 ICD10CM:H47.6 ICD9CM:377.7 NCI:C35275 SNOMEDCT_US_2023_03_01:128329001 UMLS_CUI:C0234398 visual cortex dysfunction disease_ontology DOID:5691 visual cortex disease NCI:C4252 SNOMEDCT_US_2023_03_01:404070007 UMLS_CUI:C0334471 Round cell liposarcoma disease_ontology DOID:5692 cellular myxoid liposarcoma NCI:C7811 UMLS_CUI:C0278608 disease_ontology DOID:5693 adult liposarcoma NCI:C5705 UMLS_CUI:C1333456 Liposarcoma of esophagus Liposarcoma of oesophagus oesophagus liposarcoma disease_ontology DOID:5694 esophagus liposarcoma NCI:C8091 UMLS_CUI:C0279984 pediatric liposarcoma disease_ontology DOID:5695 childhood liposarcoma A liposarcoma that is located_in the larynx. NCI:C6021 UMLS_CUI:C1334372 Liposarcoma of Larynx disease_ontology DOID:5696 larynx liposarcoma A liposarcoma that is located_in the larynx. url:http://www.springerlink.com/content/k571r5t8637pg5p5/ An ovary sarcoma that arises from fatty tissue. NCI:C6419 UMLS_CUI:C1335165 Liposarcoma of Ovary disease_ontology DOID:5697 liposarcoma of the ovary An ovary sarcoma that arises from fatty tissue. url:https://pubmed.ncbi.nlm.nih.gov/32656967/ ICDO:8857/3 NCI:C6509 SNOMEDCT_US_2023_03_01:128883006 UMLS_CUI:C1266130 disease_ontology DOID:5698 fibroblastic liposarcoma A liposarcoma that is located_in the kidney. NCI:C6185 UMLS_CUI:C1335745 Liposarcoma of kidney disease_ontology DOID:5699 kidney liposarcoma A liposarcoma that is located_in the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/15689251 url:https://www.ncbi.nlm.nih.gov/pubmed/30050631 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. DOID:54 DOID:55 ICD10CM:I06.1 ICD9CM:395.1 ICD9CM:396.3 MESH:D001022 NCI:C51223 SNOMEDCT_US_2023_03_01:155283004 SNOMEDCT_US_2023_03_01:194736003 SNOMEDCT_US_2023_03_01:60234000 UMLS_CUI:C0003504 UMLS_CUI:C0155568 UMLS_CUI:C0264774 Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency disease_ontology Corrigan's disease DOID:57 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. url:http://en.wikipedia.org/wiki/Aortic_insufficiency NCI:C5488 UMLS_CUI:C1333778 Liposarcoma of the stomach disease_ontology DOID:5700 gastric liposarcoma A breast sarcoma that arises from fat cells. NCI:C5187 UMLS_CUI:C1332632 Liposarcoma of the breast disease_ontology DOID:5701 breast liposarcoma A breast sarcoma that arises from fat cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma ICDO:8854/3 MESH:D008080 NCI:C3705 SNOMEDCT_US_2023_03_01:404071006 UMLS_CUI:C0205825 disease_ontology DOID:5702 pleomorphic liposarcoma ICDO:8855/3 NCI:C4253 SNOMEDCT_US_2023_03_01:11073003 UMLS_CUI:C0334472 disease_ontology DOID:5703 mixed liposarcoma NCI:C6507 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C0334469 disease_ontology DOID:5704 sclerosing liposarcoma NCI:C27489 SNOMEDCT_US_2023_03_01:404073009 UMLS_CUI:C1275275 disease_ontology DOID:5705 spindle cell liposarcoma NCI:C27781 UMLS_CUI:C0545074 disease_ontology DOID:5709 mixed-type liposarcoma A vulvar sarcoma that has_material_basis_in adipocytes. NCI:C40321 disease_ontology DOID:5711 vulvar liposarcoma A vulvar sarcoma that has_material_basis_in adipocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/25469348 NCI:C5615 UMLS_CUI:C1333175 Liposarcoma of the skin disease_ontology DOID:5712 cutaneous liposarcoma A liposarcoma that is located_in the mediastinum. NCI:C6614 UMLS_CUI:C1334663 Liposarcoma of mediastinum disease_ontology DOID:5713 mediastinum liposarcoma A liposarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ NCI:C6973 UMLS_CUI:C1334242 disease_ontology DOID:5714 intracranial liposarcoma NCI:C4348 SNOMEDCT_US_2023_03_01:254962005 UMLS_CUI:C0338078 Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland disease_ontology DOID:5715 functionless pituitary adenoma An adrenal gland cancer that derives_from immature neuroblastic cells. NCI:C4827 SNOMEDCT_US_2023_03_01:281562007 UMLS_CUI:C0559460 neuroblastoma of Adrenal gland disease_ontology DOID:5718 adrenal neuroblastoma 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 An adrenal gland cancer that is located_in the adrenal medulla. DOID:662 GARD:5755 ICD10CM:C74.1 NCI:C4396 NCI:C4856 SNOMEDCT_US_2023_03_01:127023007 SNOMEDCT_US_2023_03_01:93666006 UMLS_CUI:C0344456 UMLS_CUI:C0596046 adrenal medulla neoplasm adrenal medulla tumor malignant neoplasm of adrenal medulla malignant tumor of the Adrenal Medulla disease_ontology DOID:5719 adrenal medulla cancer An adrenal gland cancer that is located_in the adrenal medulla. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. ICD10CM:H47.2 ICD9CM:377.1 MESH:D009896 NCI:C34863 OMIM:PS165500 ORDO:98673 SNOMEDCT_US_2023_03_01:155188004 UMLS_CUI:C0029124 atrophy of optic disc disease_ontology DOID:5723 Xref MGI. optic atrophy An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. url:https://eyewiki.aao.org/Optic_Atrophy A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. NCI:C39907 UMLS_CUI:C1519234 disease_ontology DOID:5724 seminal vesicle cystadenoma A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/ A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40019 UMLS_CUI:C1514907 disease_ontology DOID:5725 rete ovarii cystadenoma A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/2852648 A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. NCI:C40142 UMLS_CUI:C3642324 disease_ontology DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. url:https://www.ncbi.nlm.nih.gov/pubmed/22296276 A uterine cancer that is located_in the ligaments that support the uterus. NCI:C40133 UMLS_CUI:C1519870 tumor of the uterine Ligament disease_ontology DOID:5727 uterine ligament cancer A uterine cancer that is located_in the ligaments that support the uterus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/ A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. GARD:12843 NCI:C3958 SNOMEDCT_US_2023_03_01:62557001 UMLS_CUI:C0267785 leiomyomatosis peritonealis disseminata disease_ontology DOID:5728 diffuse peritoneal leiomyomatosis A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/23815223 A leiomyomatosis that is located within the blood vessels. GARD:10802 NCI:C4518 SNOMEDCT_US_2023_03_01:254883003 UMLS_CUI:C0346200 disease_ontology DOID:5729 intravenous leiomyomatosis A leiomyomatosis that is located within the blood vessels. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/ DOID:7318 MESH:D009408 NCI:C27221 SNOMEDCT_US_2023_03_01:45781009 UMLS_CUI:C0027743 UMLS_CUI:C1510429 Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome disease_ontology DOID:573 nerve compression syndrome A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. NCI:C40119 SNOMEDCT_US_2023_03_01:36742000 UMLS_CUI:C0269043 disease_ontology DOID:5730 salpingitis isthmica nodosa A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. url:https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa ICD10CM:N70.11 NCI:C40118 SNOMEDCT_US_2023_03_01:55551005 UMLS_CUI:C0269041 disease_ontology DOID:5731 chronic salpingitis ICD10CM:N70 NCI:C34968 SNOMEDCT_US_2023_03_01:155974004 UMLS_CUI:C0034220 Pyosalpingitis disease_ontology DOID:5732 pyosalpinx A fallopian tube disease that is characterized by inflammation of the fallopian tube. ICD10CM:N70.91 MESH:D012488 NCI:C26880 SNOMEDCT_US_2023_03_01:155968004 UMLS_CUI:C0036130 disease_ontology DOID:5733 salpingitis A fallopian tube disease that is characterized by inflammation of the fallopian tube. url:https://en.wikipedia.org/wiki/Salpingitis A nervous system disease that affects the peripheral nervous system. DOID:13069 NCI:C119734 NCI:C27587 UMLS_CUI:C0031117 UMLS_CUI:C1335029 disease_ontology peripheral nerve disease peripheral neuropathy DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system. url:http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no NCI:C27455 UMLS_CUI:C1336009 small intestinal VIP Producing tumor small intestinal VIP Producing tumour small intestinal vasoactive intestinal peptide producing tumour disease_ontology DOID:5740 small intestinal vasoactive intestinal peptide producing tumor NCI:C95599 UMLS_CUI:C2033037 pancreatic VIP Producing tumor pancreatic VIP Producing tumour pancreatic vasoactive intestinal peptide producing tumour disease_ontology DOID:5741 pancreatic vasoactive intestinal peptide producing tumor A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. NCI:C7977 SNOMEDCT_US_2023_03_01:783771003 UMLS_CUI:C0279661 pancreatic acinar cell carcinoma disease_ontology DOID:5742 pancreatic acinar cell adenocarcinoma A pancreatic 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 A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. NCI:C40367 UMLS_CUI:C1515868 disease_ontology DOID:5743 acinic cell breast carcinoma A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/ An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). DOID:5745 NCI:C40025 NCI:C7550 UMLS_CUI:C1335177 UMLS_CUI:C1518234 malignant ovarian serous tumor serous carcinoma of Ovary disease_ontology DOID:5744 ovary serous adenocarcinoma 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 An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. NCI:C7978 UMLS_CUI:C0279663 serous cystadenoma disease_ontology DOID:5746 ovarian serous cystadenocarcinoma 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 A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40136 UMLS_CUI:C1519872 disease_ontology DOID:5747 uterine ligament serous adenocarcinoma A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 ICD9CM:424.3 NCI:C78579 SNOMEDCT_US_2023_03_01:76267008 UMLS_CUI:C0034087 pulmonary valve disorder disease_ontology DOID:5749 pulmonary valve disease A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. NCI:C27838 UMLS_CUI:C0854924 uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma disease_ontology DOID:5750 endometrial serous adenocarcinoma 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 A serous cystadenocarcinoma tha tis located_in the pancreas. NCI:C5724 SNOMEDCT_US_2023_03_01:690801000119108 UMLS_CUI:C1335315 serous cystadenocarcinoma of pancreas disease_ontology DOID:5751 pancreatic serous cystadenocarcinoma A serous cystadenocarcinoma tha tis located_in the pancreas. url:https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40201 UMLS_CUI:C1516431 disease_ontology DOID:5752 cervical serous adenocarcinoma A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/25370301 A cervicitis that is located_in the endocervix. NCI:C26762 SNOMEDCT_US_2023_03_01:155980007 UMLS_CUI:C0014127 disease_ontology DOID:5757 endocervicitis A cervicitis that is located_in the endocervix. url:https://www.ncbi.nlm.nih.gov/pubmed/23134447 url:https://www.ncbi.nlm.nih.gov/pubmed/29370498 GARD:3369 MESH:C535700 NCI:C4268 SNOMEDCT_US_2023_03_01:89623007 UMLS_CUI:C0334492 Mesenchymoma, malignant disease_ontology DOID:5758 malignant mesenchymoma MESH:D012626 NCI:C3363 SNOMEDCT_US_2023_03_01:126491004 UMLS_CUI:C0036503 Sebaceous neoplasm disease_ontology DOID:5759 sebaceous gland neoplasm A kidney disease that is characterized by the presence of excess proteins in the urine. ICD10CM:R80 ICD9CM:791.0 MESH:D011507 NCI:C38012 SNOMEDCT_US_2023_03_01:144515004 UMLS_CUI:C0033687 disease_ontology DOID:576 proteinuria A kidney disease that is characterized by the presence of excess proteins in the urine. url:https://en.wikipedia.org/wiki/Proteinuria A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. NCI:C40369 UMLS_CUI:C1519207 disease_ontology DOID:5760 sebaceous breast carcinoma A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/ A vulva carcinoma that is characterized by the presence of sebaceous secretions. NCI:C40309 UMLS_CUI:C1520094 disease_ontology DOID:5761 vulvar sebaceous carcinoma A vulva carcinoma that is characterized by the presence of sebaceous secretions. url:https://www.ncbi.nlm.nih.gov/pubmed/10535578 NCI:C38152 UMLS_CUI:C1333065 disease_ontology DOID:5763 lung clear cell-sugar-tumor DOID:6205 NCI:C5276 NCI:C5668 UMLS_CUI:C1334450 UMLS_CUI:C1335488 lung primary meningioma primary pulmonary meningioma pulmonary meningioma disease_ontology DOID:5764 lung meningioma MESH:D047868 NCI:C5656 SNOMEDCT_US_2023_03_01:707365008 UMLS_CUI:C1334455 Pneumocytoma disease_ontology DOID:5766 pulmonary sclerosing hemangioma NCI:C5671 SNOMEDCT_US_2023_03_01:126707007 UMLS_CUI:C1290358 lung Hilum tumor neoplasm of hilus of lung disease_ontology DOID:5767 hilar lung neoplasm 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. GARD:498 NCI:C35795 OMIM:154400 UMLS_CUI:C1332140 AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis disease_ontology DOID:5768 OMIM mapping confirmed by DO. [SN]. Nager acrofacial 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:https://www.faces-cranio.org/nager NCI:C4478 SNOMEDCT_US_2023_03_01:254756007 UMLS_CUI:C0346054 Cutaneous Verruciform Xanthoma Verruciform xanthoma disease_ontology DOID:5769 verruciform xanthoma of skin A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. NCI:C5503 UMLS_CUI:C1332882 CNS hematopoietic tumor disease_ontology hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. DOID:9679 GARD:7264 ICD10CM:K13.5 ICD9CM:528.8 MESH:D009914 NCI:C34866 SNOMEDCT_US_2023_03_01:32883009 UMLS_CUI:C0029171 UMLS_CUI:C0029172 Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue disease_ontology DOID:5773 oral submucous fibrosis A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. url:https://en.wikipedia.org/wiki/Oral_submucous_fibrosis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/ NCI:C27777 UMLS_CUI:C1333817 disease_ontology DOID:5774 giant hemangioma NCI:C5395 UMLS_CUI:C1333086 Colonic Cavernous hemangioma disease_ontology DOID:5775 cavernous hemangioma of colon NCI:C7053 UMLS_CUI:C1332863 disease_ontology DOID:5776 cavernous hemangioma of face NCI:C5698 SNOMEDCT_US_2023_03_01:1186811008 UMLS_CUI:C1335686 neuroendocrine tumor of rectum disease_ontology DOID:5777 rectum neuroendocrine neoplasm NCI:C5821 UMLS_CUI:C1333462 esophageal neuroendocrine tumour neuroendocrine tumor of esophagus neuroendocrine tumour of oesophagus disease_ontology DOID:5784 esophageal neuroendocrine tumor NCI:C7097 SNOMEDCT_US_2023_03_01:734033006 UMLS_CUI:C1334784 mixed epithelial and mesenchymal hepatoblastoma disease_ontology DOID:5789 mixed hepatoblastoma NCI:C7095 UMLS_CUI:C1334543 disease_ontology DOID:5798 macrotrabecular hepatoblastoma A nephrolithiasis that is characterized by stones composed predominantly uric acid. ICD9CM:274.11 NCI:C123245 OMIM:605990 SNOMEDCT_US_2023_03_01:267441009 UMLS_CUI:C0403719 acute urate nephropathy disease_ontology DOID:580 uric acid nephrolithiasis A nephrolithiasis that is characterized by stones composed predominantly uric acid. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/ An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. GARD:5052 MESH:D001020 NCI:C85172 SNOMEDCT_US_2023_03_01:250915007 UMLS_CUI:C0340375 disease_ontology DOID:5805 subvalvular aortic stenosis An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. url:https://www.ncbi.nlm.nih.gov/pubmed/26731888 url:https://www.ncbi.nlm.nih.gov/pubmed/29377232 NCI:C6589 UMLS_CUI:C1332994 disease_ontology DOID:5809 childhood parosteal osteogenic sarcoma 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. GARD:5748 ICD10CM:D81.30 NCI:C3962 OMIM:102700 SNOMEDCT_US_2023_03_01:190999009 UMLS_CUI:C0268124 ADA disease_ontology DOID:5810 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. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency url:https://pubmed.ncbi.nlm.nih.gov/2166947/ url:https://pubmed.ncbi.nlm.nih.gov/2783588/ A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. ICD10CM:D81.6 MESH:D016511 NCI:C3895 OMIM:209920 SNOMEDCT_US_2023_03_01:71904008 UMLS_CUI:C0242583 BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II disease_ontology DOID:5812 OMIM mapping confirmed by DO. [SN]. MHC class II deficiency A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. url:https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii url:https://www.omim.org/entry/209920 A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. GARD:4606 ICD10CM:D81.5 MESH:C562587 NCI:C176817 OMIM:613179 ORDO:760 SNOMEDCT_US_2023_03_01:60743005 UMLS_CUI:C0268125 PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase disease_ontology DOID:5813 OMIM mapping confirmed by DO. [SN]. purine nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. url:http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency url:https://pubmed.ncbi.nlm.nih.gov/1384322/ url:https://pubmed.ncbi.nlm.nih.gov/3029074/ A cerebrum cancer that affects the lymph cells and derives_from the brain. DOID:5814 NCI:C7611 SNOMEDCT_US_2023_03_01:276836002 UMLS_CUI:C0240803 brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma disease_ontology DOID:5815 cerebral lymphoma 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.nlm.nih.gov/medlineplus/ency/article/000734.htm url:https://www.ncbi.nlm.nih.gov/pubmed/10563426 ICD10CM:R82.3 ICD9CM:791.2 MESH:D006456 NCI:C34677 SNOMEDCT_US_2023_03_01:68600005 UMLS_CUI:C0019048 disease_ontology DOID:582 hemoglobinuria A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. MESH:D058617 NCI:C38661 SNOMEDCT_US_2023_03_01:1156403002 UMLS_CUI:C0545080 disease_ontology DOID:5820 composite lymphoma 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 A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. GARD:10897 NCI:C37869 SNOMEDCT_US_2023_03_01:722954005 UMLS_CUI:C1333878 disease_ontology DOID:5822 gray zone lymphoma 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 NCI:C5165 UMLS_CUI:C1332979 pediatric lymphoma disease_ontology DOID:5823 childhood lymphoma NCI:C7587 UMLS_CUI:C1332206 disease_ontology DOID:5825 adult lymphoma An ovary adenocarcinoma that has_material_basis_in endometrial tissue. NCI:C7979 SNOMEDCT_US_2023_03_01:254852002 UMLS_CUI:C0346163 Ovarian endometrioid carcinoma endometrioid carcinoma ovary disease_ontology endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma An ovary adenocarcinoma that has_material_basis_in endometrial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25120828 A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. NCI:C40138 UMLS_CUI:C5557430 disease_ontology DOID:5829 uterine ligament endometrioid adenocarcinoma A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 ICD10CM:D55-D59 MESH:D000743 NCI:C34376 OMIM:266120 OMIM:612631 SNOMEDCT_US_2023_03_01:61261009 UMLS_CUI:C0002878 ANEMIA HEMOLYTIC disease_ontology DOID:583 OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. hemolytic anemia A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. NCI:C6343 UMLS_CUI:C1332913 endometrioid carcinoma of the Cervix Uteri disease_ontology DOID:5830 cervical endometrioid adenocarcinoma A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/23722512 A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. DOID:1972 NCI:C40111 NCI:C6279 UMLS_CUI:C1333592 UMLS_CUI:C1517113 endometrioid carcinoma of the fallopian tube fallopian tube endometrioid cancer disease_ontology fallopian tube endometrioid neoplasm DOID:5831 fallopian tube endometrioid adenocarcinoma A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/8946874 NCI:C39921 SNOMEDCT_US_2023_03_01:9294008 UMLS_CUI:C0334517 spermatocytic seminoma disease_ontology DOID:5834 spermatocytoma DOID:6136 NCI:C7327 UMLS_CUI:C1333502 primary extragonadal seminoma disease_ontology DOID:5838 extragonadal seminoma MESH:D018239 NCI:C9309 SNOMEDCT_US_2023_03_01:443675005 UMLS_CUI:C0036631 Seminoma of testis Seminoma testis testicular Seminoma Pure disease_ontology DOID:5842 testis seminoma NCI:C36068 UMLS_CUI:C3642318 disease_ontology DOID:5843 posteroinferior myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 SNOMEDCT_US_2023_03_01:66514008 UMLS_CUI:C0027051 Myocardial infarct heart attack disease_ontology DOID:5844 Xref MGI. myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. url:https://en.wikipedia.org/wiki/Myocardial_infarction url:https://www.ncbi.nlm.nih.gov/pubmed/17951287 NCI:C36073 UMLS_CUI:C3642319 disease_ontology DOID:5848 apical myocardial infarction NCI:C35305 UMLS_CUI:C3642476 disease_ontology DOID:5849 subendocardial myocardial infarction NCI:C35672 UMLS_CUI:C3642463 disease_ontology DOID:5851 posterolateral myocardial infarction NCI:C35673 UMLS_CUI:C3537017 disease_ontology DOID:5852 inferolateral myocardial infarct NCI:C35400 SNOMEDCT_US_2023_03_01:194796000 UMLS_CUI:C0340324 disease_ontology DOID:5854 silent myocardial infarction NCI:C8778 UMLS_CUI:C0855011 disease_ontology DOID:5862 localized chondrosarcoma NCI:C7357 SNOMEDCT_US_2023_03_01:26211003 UMLS_CUI:C0334549 disease_ontology DOID:5866 juxtacortical chondrosarcoma ICDO:9242/3 MESH:D000077207 NCI:C6475 SNOMEDCT_US_2023_03_01:128775007 UMLS_CUI:C1266167 disease_ontology DOID:5867 clear cell chondrosarcoma 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. GARD:107 ICD10CM:J82.81 MESH:D011657 NCI:C35150 SNOMEDCT_US_2023_03_01:196145005 UMLS_CUI:C1527407 Pneumonia, eosinophilic disease_ontology DOID:5870 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. url:http://en.wikipedia.org/wiki/Eosinophilic_pneumonia NCI:C6447 UMLS_CUI:C1335776 germ cell tumor of Retroperitoneum disease_ontology DOID:5874 retroperitoneal germ cell neoplasm A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. DOID:12340 DOID:9860 ICD10CM:C48 ICD10CM:C48.0 ICD9CM:158 ICD9CM:158.0 MESH:D012186 NCI:C3357 NCI:C3537 SNOMEDCT_US_2023_03_01:187801002 SNOMEDCT_US_2023_03_01:254617008 SNOMEDCT_US_2023_03_01:363420003 UMLS_CUI:C0035358 UMLS_CUI:C0153464 UMLS_CUI:C0153465 malignant neoplasm of retroperitoneum and peritoneum malignant tumor of peritoneum and retroperitoneum neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm tumor of retroperitoneum disease_ontology malignant neoplasm of retroperitoneum malignant retroperitoneal cancer DOID:5875 retroperitoneal cancer A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. url:http://en.wikipedia.org/wiki/Retroperitoneal_space NCI:C6798 UMLS_CUI:C1332318 Apocrine tumor disease_ontology DOID:5876 apocrine sweat gland neoplasm DOID:14538 NCI:C4570 NCI:C5346 SNOMEDCT_US_2023_03_01:126731002 SNOMEDCT_US_2023_03_01:363436001 UMLS_CUI:C0346612 UMLS_CUI:C1290401 malignant Endocardial tumor malignant neoplasm of endocardium malignant tumor of endocardium disease_ontology DOID:5877 endocardium cancer NCI:C7635 SNOMEDCT_US_2023_03_01:734100004 UMLS_CUI:C1337012 Well-differentiated Papillary tumor of Mesothelium disease_ontology DOID:5884 benign intermediate mesothelioma GARD:6167 ICD10CM:D58.9 ICD9CM:282 MESH:D000745 NCI:C34379 SNOMEDCT_US_2023_03_01:42601008 UMLS_CUI:C0002881 congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia disease_ontology DOID:589 congenital hemolytic anemia NCI:C8269 UMLS_CUI:C0280787 disease_ontology DOID:5890 malignant adult ependymoma NCI:C8097 UMLS_CUI:C0279991 disease_ontology DOID:5893 childhood malignant mesenchymoma NCI:C7947 UMLS_CUI:C0279548 disease_ontology DOID:5894 adult malignant mesenchymoma A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. NCI:C8988 SNOMEDCT_US_2023_03_01:58161009 UMLS_CUI:C1377853 disease_ontology DOID:5895 clear cell cystadenofibroma A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/514560 An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40086 UMLS_CUI:C1518695 disease_ontology DOID:5896 ovarian clear cell cystadenofibroma An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/6692303 An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40085 UMLS_CUI:C1518694 disease_ontology DOID:5897 ovarian clear cell adenofibroma An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/28861185 A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. ICDO:8728/1 NCI:C4662 ORDO:252046 SNOMEDCT_US_2023_03_01:128730009 UMLS_CUI:C1266113 Leptomeningeal melanocytoma melanocytoma of meninges disease_ontology DOID:5900 meningeal melanocytoma A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. url:https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us NCI:C27791 UMLS_CUI:C1334984 Non-Invasive Penile verrucous carcinoma disease_ontology DOID:5907 penis non-invasive verrucous carcinoma NCI:C6982 UMLS_CUI:C1336955 verrucous squamous carcinoma of penis disease_ontology DOID:5908 penis verrucous carcinoma An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. ICD10CM:F40 ICD9CM:300.20 MESH:D010698 NCI:C35420 SNOMEDCT_US_2023_03_01:52039009 UMLS_CUI:C0349231 disease_ontology DOID:591 phobic disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder NCI:C5823 UMLS_CUI:C1332602 tumor of the Brachial Plexus disease_ontology DOID:5913 brachial plexus neoplasm ICDO:8350/3 NCI:C7427 SNOMEDCT_US_2023_03_01:62681000 UMLS_CUI:C0334330 Nonencapsulated Sclerosing neoplasm Papillary carcinoma, diffuse sclerosing disease_ontology DOID:5914 nonencapsulated sclerosing carcinoma An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. NCI:C40170 UMLS_CUI:C1519855 disease_ontology DOID:5916 uterine corpus leiomyomatosis An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23383444 url:https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids NCI:C9371 UMLS_CUI:C1377915 adult brain stem mixed glioma disease_ontology DOID:5921 adult brainstem mixed glioma NCI:C6954 UMLS_CUI:C1332191 disease_ontology DOID:5922 adult brainstem astrocytoma NCI:C7109 UMLS_CUI:C1333308 carcinoma of the Distal biliary tract disease_ontology DOID:5923 distal biliary tract carcinoma NCI:C5845 UMLS_CUI:C1335979 Oat cell extrahepatic bile duct carcinoma disease_ontology DOID:5926 extrahepatic bile duct small cell adenocarcinoma 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. ICD10CM:F40.0 MESH:D000379 NCI:C34362 SNOMEDCT_US_2023_03_01:154885006 UMLS_CUI:C0001818 Fear of open spaces disease_ontology DOID:593 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. url:http://en.wikipedia.org/wiki/Anxiety_disorder An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. NCI:C8114 UMLS_CUI:C0280135 mixed germ cell tumor of Ovary disease_ontology DOID:5936 ovarian mixed germ cell neoplasm An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. url:https://www.ncbi.nlm.nih.gov/pubmed/25366470 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. EFO:0004262 ICD10CM:F41.0 MESH:D016584 NCI:C34890 OMIM:167870 OMIM:607853 OMIM:609985 SNOMEDCT_US_2023_03_01:191705007 UMLS_CUI:C0030319 panic anxiety syndrome disease_ontology DOID:594 Xref MGI. 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. url:http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml GARD:10872 ICDO:9540/3 MESH:D018319 NCI:C3798 SNOMEDCT_US_2023_03_01:134324009 UMLS_CUI:C0751690 malignant neoplasm of the peripheral nerve Sheath disease_ontology DOID:5940 malignant peripheral nerve sheath tumor NCI:C3927 SNOMEDCT_US_2023_03_01:62727008 UMLS_CUI:C0263640 disease_ontology DOID:5948 angiokeratoma of mibelli NCI:C7751 SNOMEDCT_US_2023_03_01:21848000 UMLS_CUI:C0263638 disease_ontology DOID:5949 angiokeratoma circumscriptum NCI:C39845 UMLS_CUI:C1511206 disease_ontology DOID:5957 bladder urachal squamous cell carcinoma MESH:C536475 NCI:C39842 UMLS_CUI:C2931202 urachal cancer disease_ontology DOID:5958 bladder urachal carcinoma A papillary carcinoma that is located_in the kidney pelvis. NCI:C6148 UMLS_CUI:C1377909 Papillary carcinoma of renal Pelvis disease_ontology DOID:5973 kidney pelvis papillary carcinoma A papillary carcinoma that is located_in the kidney pelvis. url:https://www.ncbi.nlm.nih.gov/pubmed/13056223 NCI:C7355 Urothelial cell carcinoma of renal Pelvis disease_ontology DOID:5974 renal pelvis transitional cell carcinoma NCI:C8603 UMLS_CUI:C0853688 Papillary neoplasm of renal Pelvis disease_ontology DOID:5975 renal pelvis papillary tumor NCI:C8404 SNOMEDCT_US_2023_03_01:126881002 UMLS_CUI:C0346260 neoplasm of renal pelvis tumor of kidney Pelvis tumor of renal pelvis disease_ontology DOID:5977 renal pelvis benign neoplasm NCI:C7726 UMLS_CUI:C0238208 Fibrosarcoma of the kidney disease_ontology DOID:5982 kidney fibrosarcoma A kidney sarcoma that starts in the bones and that is located in the kidney. NCI:C6181 UMLS_CUI:C1335747 renal Osteogenic sarcoma disease_ontology DOID:5983 kidney osteogenic sarcoma A kidney sarcoma that starts in the bones and that is located in the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/1768219 A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. ICD10CM:F40.2 MESH:C562465 NCI:C35284 OMIM:608251 SNOMEDCT_US_2023_03_01:54587008 UMLS_CUI:C0236801 simple phobia disease_ontology DOID:599 specific 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 NCI:C5307 UMLS_CUI:C1334227 meningioma of the Internal Auditory canal disease_ontology DOID:5990 internal auditory canal meningioma A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. NCI:C6943 UMLS_CUI:C1332628 Non-Proliferative Fibrocystic Change disease_ontology DOID:5997 non-proliferative fibrocystic change of the breast A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. url:https://www.ncbi.nlm.nih.gov/pubmed/27483712 A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. MESH:D005348 NCI:C3484 SNOMEDCT_US_2023_03_01:270893004 UMLS_CUI:C0085750 Adenosis - breast Adenosis of the breast disease_ontology DOID:5998 microglandular adenosis A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/ A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. NCI:C5198 UMLS_CUI:C1332314 Apocrine Adenosis of the breast disease_ontology DOID:5999 apocrine adenosis of breast A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. url:https://www.ncbi.nlm.nih.gov/pubmed/20123450 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. MESH:C000719220 NCI:C35273 SNOMEDCT_US_2023_03_01:54307006 UMLS_CUI:C0233711 Fear of animals Zoophobia disease_ontology DOID:600 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. url:http://hubpages.com/hub/list-of-animal-phobias 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. DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 MESH:D006333 NCI:C3080 NCI:C50577 SNOMEDCT_US_2023_03_01:155374007 SNOMEDCT_US_2023_03_01:195108009 UMLS_CUI:C0018801 UMLS_CUI:C0018802 CHF Cardiac Failure Congestive Congestive heart disease Weak heart disease_ontology DOID:6000 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. url:http://en.wikipedia.org/wiki/Heart_disease A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. NCI:C5185 UMLS_CUI:C1332630 Fibrosarcoma of the breast disease_ontology DOID:6001 breast fibrosarcoma A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. url:https://en.wikipedia.org/wiki/Fibrosarcoma An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. NCI:C4983 UMLS_CUI:C0887846 disease_ontology DOID:6003 aleukemic leukemia cutis An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=20.02d&code=C4983&ns=ncit&type=properties&key=null&b=1&n=0&vse=null A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. NCI:C4982 SNOMEDCT_US_2023_03_01:154602005 UMLS_CUI:C0877858 disease_ontology aleukemic myelosis DOID:6004 aleukemic leukemia A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. url:http://www.merriam-webster.com/medical/aleukemic%20leukemia url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982 NCI:C5794 UMLS_CUI:C1370506 teratoma of the adult central nervous system disease_ontology DOID:6015 adult central nervous system teratoma NCI:C27400 UMLS_CUI:C1332194 disease_ontology DOID:6016 adult central nervous system mature teratoma A mature teratoma that is located_in the central nervous system. NCI:C7013 UMLS_CUI:C1332886 Mature teratoma of the CNS disease_ontology DOID:6017 central nervous system mature teratoma A mature teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C27401 UMLS_CUI:C1332193 disease_ontology DOID:6018 adult central nervous system immature teratoma A malignant teratoma that is located_in the central nervous system. NCI:C7014 UMLS_CUI:C1332883 Immature teratoma of the CNS disease_ontology DOID:6019 central nervous system immature teratoma A malignant teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C35492 SNOMEDCT_US_2023_03_01:34563004 UMLS_CUI:C0233705 Fear of getting cancer cancer phobia disease_ontology DOID:602 cancerophobia A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. NCI:C27143 SNOMEDCT_US_2023_03_01:234540007 UMLS_CUI:C0398694 Selective IgE Immunodeficiency Selective immunoglobulin E deficiency disease_ontology DOID:6024 selective IgE deficiency disease A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. url:https://www.ncbi.nlm.nih.gov/pubmed/24717782 url:https://www.ncbi.nlm.nih.gov/pubmed/28778662 A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. NCI:C27870 UMLS_CUI:C1335942 disease_ontology DOID:6025 selective immunoglobulin deficiency disease A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870 url:https://www.ncbi.nlm.nih.gov/books/NBK507905/ NCI:C35614 UMLS_CUI:C0853870 disease_ontology DOID:603 AIDS phobia DOID:5332 NCI:C39947 NCI:C4207 SNOMEDCT_US_2023_03_01:189735004 UMLS_CUI:C0334403 UMLS_CUI:C1515285 Juvenile granulosa cell tumor Juvenile granulosa cell tumour Juvenile type Granulosa cell tumor Juvenile type Granulosa cell tumour juvenile type granulosa cell neoplasm juvenile type testicular granulosa cell tumour disease_ontology DOID:6032 juvenile type testicular granulosa cell tumor NCI:C5361 UMLS_CUI:C1332844 Fibrosarcoma of the Heart cardiac fibrosarcoma disease_ontology DOID:6033 heart fibrosarcoma A heart sarcoma that is a soft tissue sarcoma located in the heart. NCI:C5365 UMLS_CUI:C1334567 malignant hemangiopericytoma of Heart disease_ontology DOID:6034 heart malignant hemangiopericytoma A heart sarcoma that is a soft tissue sarcoma located in the heart. url:https://www.ncbi.nlm.nih.gov/pubmed/16434949 An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. NCI:C7986 UMLS_CUI:C0279687 Uveal spindle cell melanoma disease_ontology DOID:6037 spindle cell intraocular 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 A uveal cancer that has_material_basis_in uvea pigment cells. MESH:C536494 NCI:C7712 OMIM:155720 OMIM:606660 OMIM:606661 ORDO:39044 UMLS_CUI:C0220633 melanoma of Uvea disease_ontology DOID:6039 Xref MGI. OMIM mapping confirmed by DO. [SN]. uveal melanoma 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 A malignant choroid melanoma that is located_in the choroid. NCI:C6099 UMLS_CUI:C1333027 spindle cell melanoma of the Choroid disease_ontology DOID:6041 choroid spindle cell melanoma A malignant choroid melanoma that is located_in the choroid. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C6117 UMLS_CUI:C1333052 spindle cell melanoma of the Ciliary body disease_ontology DOID:6043 ciliary body spindle cell melanoma A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/ url:https://www.ncbi.nlm.nih.gov/pubmed/17545559/ NCI:C5345 UMLS_CUI:C1336699 disease_ontology DOID:6048 telangiectatic glomangioma A specific phobia that is characterized by a fear of flying. ICD10CM:F40.243 MESH:C000719189 NCI:C35413 SNOMEDCT_US_2023_03_01:247854002 UMLS_CUI:C0344318 disease_ontology DOID:605 flying phobia A specific phobia that is characterized by a fear of flying. url:http://en.wikipedia.org/wiki/Fear_of_flying A gastrointestinal system disease that is located_in the esophagus. DOID:10117 DOID:10118 DOID:11798 ICD10CM:K22.9 ICD9CM:530.9 MESH:D004935 NCI:C3027 SNOMEDCT_US_2023_03_01:266497000 UMLS_CUI:C0014852 esophageal Ulcer disease_ontology DOID:6050 esophageal disease A gastrointestinal system disease that is located_in the esophagus. url:http://en.wikipedia.org/wiki/Esophageal_disease NCI:C6205 UMLS_CUI:C0278754 central nervous system childhood germ cell tumour paediatric germ cell neoplasm of CNS pediatric germ cell neoplasm of CNS disease_ontology DOID:6052 central nervous system childhood germ cell tumor A germ cell cancer that presents in childhood. NCI:C7928 UMLS_CUI:C0279014 paediatric germ cell cancer paediatric germ cell neoplasm pediatric germ cell cancer pediatric germ cell neoplasm disease_ontology pediatric germ cell tumor DOID:6053 childhood germ cell cancer A germ cell cancer that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/23559398 NCI:C6837 UMLS_CUI:C1333645 Schneiderian papilloma of the Frontal sinus disease_ontology DOID:6054 frontal sinus Schneiderian papilloma NCI:C4369 SNOMEDCT_US_2023_03_01:232364006 UMLS_CUI:C0339826 papilloma of nasal vestibule squamous papilloma of the nasal Vestibule disease_ontology DOID:6059 nasal vestibule papilloma GARD:5964 ICD10CM:G83.81 MESH:D018437 NCI:C84601 SNOMEDCT_US_2023_03_01:27982003 UMLS_CUI:C0242644 Brown-Squard syndrome disease_ontology DOID:606 Brown-Sequard syndrome NCI:C39854 UMLS_CUI:C1518361 disease_ontology DOID:6065 urinary tract non-invasive transitional cell neoplasm An ovary epithelial cancer that is characterized by the presence of mucin. DOID:3712 NCI:C40033 NCI:C5242 SNOMEDCT_US_2023_03_01:189683008 UMLS_CUI:C1335168 UMLS_CUI:C1518233 Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary disease_ontology DOID:6067 ovarian mucinous neoplasm An ovary epithelial cancer that is characterized by the presence of mucin. url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor GARD:7327 ICD10CM:G82.2 ICD9CM:344.1 MESH:D010264 NCI:C50687 SNOMEDCT_US_2023_03_01:155031004 UMLS_CUI:C0030486 Paraplegia, lower disease_ontology DOID:607 paraplegia NCI:C6552 UMLS_CUI:C0796663 paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor disease_ontology DOID:6082 childhood testicular germ cell tumor An ovarian endodermal sinus tumor that presents in childhood. NCI:C6551 UMLS_CUI:C1332993 childhood ovarian endodermal sinus neoplasm childhood ovarian endodermal sinus tumour childhood ovarian yolk sac tumor childhood ovarian yolk sac tumour paediatric Ovarian Yolk Sac tumour pediatric Ovarian Yolk Sac tumor disease_ontology DOID:6083 childhood ovarian endodermal sinus tumor An ovarian endodermal sinus tumor that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/8649322 url:https://www.ncbi.nlm.nih.gov/pubmed/9949591 An ovarian germ cell cancer that presents in childhood. NCI:C8588 UMLS_CUI:C0796664 paediatric Ovarian germ cell neoplasm paediatric ovarian germ cell tumour pediatric Ovarian germ cell neoplasm pediatric ovarian germ cell tumor disease_ontology DOID:6084 childhood ovarian germ cell tumor An ovarian germ cell cancer that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/24395845 ICDO:8720/3 NCI:C5317 SNOMEDCT_US_2023_03_01:726420002 UMLS_CUI:C1334386 melanoma of the leptomeninges disease_ontology DOID:6085 meningeal melanoma NCI:C8506 UMLS_CUI:C1334596 leptomeningeal cancer malignant leptomeningeal tumor malignant leptomeningeal tumour malignant tumor of Leptomeninges malignant tumour of Leptomeninges disease_ontology DOID:6086 malignant leptomeningeal neoplasm NCI:C5318 UMLS_CUI:C1332976 pediatric leptomeningeal melanoma disease_ontology DOID:6089 childhood leptomeningeal melanoma NCI:C5319 UMLS_CUI:C1332204 melanoma of adult Leptomeninges disease_ontology DOID:6090 adult leptomeningeal melanoma DOID:6096 NCI:C4576 NCI:C6221 SNOMEDCT_US_2023_03_01:188287005 UMLS_CUI:C0346902 UMLS_CUI:C1336733 malignant neoplasm of thalamus malignant tumor of Thalamus tumor of Thalamus disease_ontology DOID:6098 thalamic neoplasm DOID:11505 DOID:58 DOID:59 ICD10CM:I05 ICD10CM:I05.1 ICD9CM:394 ICD9CM:394.1 ICD9CM:424.0 NCI:C78446 SNOMEDCT_US_2023_03_01:11851006 SNOMEDCT_US_2023_03_01:155278007 SNOMEDCT_US_2023_03_01:83898004 UMLS_CUI:C0026265 UMLS_CUI:C0155563 UMLS_CUI:C0264765 Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence disease_ontology DOID:61 mitral valve disease A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. NCI:C40205 UMLS_CUI:C1516424 disease_ontology DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/ A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. NCI:C27341 UMLS_CUI:C1333996 disease_ontology DOID:6102 herpetic gastritis A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. url:https://www.ncbi.nlm.nih.gov/pubmed/1063088 NCI:C5297 UMLS_CUI:C1336738 meningioma of the Thoracic Spinal canal and Spinal Cord disease_ontology DOID:6103 thoracic spinal canal and spinal cord meningioma NCI:C5293 UMLS_CUI:C1334298 meningioma of the Jugular Foramen disease_ontology DOID:6110 jugular foramen meningioma NCI:C4807 SNOMEDCT_US_2023_03_01:189164002 UMLS_CUI:C0542564 meningioma of Cerebrum disease_ontology DOID:6112 cerebral meningioma NCI:C5269 UMLS_CUI:C1334236 disease_ontology DOID:6113 intracerebral cystic meningioma MESH:D008579 NCI:C4959 UMLS_CUI:C0751303 Cerebral Hemispheric Convexity meningioma disease_ontology DOID:6114 cerebral convexity meningioma NCI:C5302 UMLS_CUI:C1334380 meningioma of the Lateral Ventricle disease_ontology DOID:6115 lateral ventricle meningioma NCI:C6187 UMLS_CUI:C1335751 Inverted papilloma of the kidney Pelvis disease_ontology DOID:6118 renal pelvis inverted papilloma NCI:C4528 UMLS_CUI:C1514844 disease_ontology DOID:6119 renal pelvis urothelial papilloma 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. ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 NCI:C39725 OMIM:242850 OMIM:PS300755 SNOMEDCT_US_2023_03_01:191005003 UMLS_CUI:C0021051 hypoimmunity immune deficiency disorder immunodeficiency syndrome disease_ontology DOID:612 Xref MGI. 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. url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases An anal canal cancer that derives_from epithelial cells. MESH:C563020 NCI:C7489 OMIM:105580 SNOMEDCT_US_2023_03_01:285310000 UMLS_CUI:C0563211 anal canal and Perianal gland carcinoma disease_ontology DOID:6126 OMIM mapping confirmed by DO. [SN]. anal canal carcinoma 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 A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. GARD:6514 ICDO:9381/3 MESH:D018302 NCI:C4318 SNOMEDCT_US_2023_03_01:26138003 UMLS_CUI:C0334576 Astrocytosis cerebri disease_ontology DOID:6128 gliomatosis cerebri A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. url:https://en.wikipedia.org/wiki/Gliomatosis_cerebri url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/ 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. DOID:13503 DOID:13504 DOID:13707 DOID:13728 DOID:13729 DOID:5049 DOID:6130 DOID:6131 DOID:9982 DOID:9983 ICD10CM:J20 ICD10CM:J40 ICD10CM:J42 ICD9CM:466.0 ICD9CM:490 ICD9CM:491 MESH:D001991 MESH:D029481 NCI:C26722 NCI:C26932 NCI:C2911 SNOMEDCT_US_2023_03_01:155512004 SNOMEDCT_US_2023_03_01:155566007 SNOMEDCT_US_2023_03_01:32398004 UMLS_CUI:C0006277 UMLS_CUI:C0008677 UMLS_CUI:C0149514 CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis disease_ontology acute bronchitis and bronchiolitis DOID:6132 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. 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 A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. NCI:C40174 UMLS_CUI:C1519851 disease_ontology DOID:6139 uterine corpus epithelioid leiomyosarcoma A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/ A choriocarcinoma of the testis that is present during childhood. NCI:C6544 UMLS_CUI:C1333006 pediatric testicular Choriocarcinoma disease_ontology DOID:6160 childhood choriocarcinoma of the testis A choriocarcinoma of the testis that is present during childhood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/ NCI:C6542 UMLS_CUI:C1333009 childhood testicular mixed germ cell tumour paediatric testicular mixed germ cell tumour pediatric testicular mixed germ cell tumor disease_ontology DOID:6161 childhood testicular mixed germ cell tumor An embryonal testis carcinoma that occurs in children. NCI:C6545 UMLS_CUI:C1333007 pediatric testicular Embryonal carcinoma disease_ontology childhood embryonal carcinoma of the testis DOID:6162 childhood embryonal testis carcinoma An embryonal testis carcinoma that occurs in children. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma NCI:C9222 SNOMEDCT_US_2023_03_01:715561008 UMLS_CUI:C0879257 Hereditary Papillary renal carcinoma disease_ontology DOID:6163 familial renal papillary carcinoma NCI:C39900 UMLS_CUI:C1514522 disease_ontology DOID:6166 prostatic urethra urothelial carcinoma NCI:C39870 UMLS_CUI:C1514523 disease_ontology DOID:6167 prostatic urethral cancer A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. GARD:7296 NCI:C9192 SNOMEDCT_US_2023_03_01:702368000 UMLS_CUI:C0392998 Ovarian MMMT ovarian malignant mesodermal (mullerian) mixed tumor ovarian malignant mixed Mullerian tumor disease_ontology DOID:6170 ovarian carcinosarcoma A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/ A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. GARD:12335 NCI:C42700 SNOMEDCT_US_2023_03_01:702369008 UMLS_CUI:C0280630 mixed mullerian sarcoma of uterus disease_ontology DOID:6171 uterine carcinosarcoma 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 A neurilemmoma located_in the mediastinum. DOID:7922 NCI:C6643 UMLS_CUI:C1334679 Schwannoma of mediastinum disease_ontology DOID:6175 mediastinal neurilemmoma A neurilemmoma located_in the mediastinum. url:https://pubmed.ncbi.nlm.nih.gov/25992358 An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. GARD:10411 NCI:C27390 disease_ontology DOID:6179 ovarian small cell carcinoma An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/ A sarcoma of the rectum that results_in lesions that are located_in the rectum. NCI:C5550 SNOMEDCT_US_2023_03_01:1156797006 UMLS_CUI:C1335681 Kaposi's sarcoma of rectum rectum Kaposi sarcoma disease_ontology DOID:6190 rectum Kaposi's sarcoma 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 NCI:C6497 UMLS_CUI:C1334180 Xanthosarcoma inflammatory MFH disease_ontology DOID:6192 malignant inflammatory fibrous histiocytoma A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. GARD:10181 ICDO:8804/3 MESH:D012509 NCI:C3714 SNOMEDCT_US_2023_03_01:782827000 UMLS_CUI:C0205944 epithelioid cell sarcoma disease_ontology DOID:6193 epithelioid sarcoma A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. url:https://en.wikipedia.org/wiki/Epithelioid_sarcoma url:https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420 A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. ICD10CM:H10 ICD9CM:372.30 MESH:D003231 NCI:C34504 SNOMEDCT_US_2023_03_01:193857008 UMLS_CUI:C0009763 disease_ontology Madras eye DOID:6195 conjunctivitis 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 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:9760 GARD:5693 ICD10CM:M02.10 ICD10CM:M02.3 ICD9CM:099.3 ICD9CM:711.30 MESH:D016918 NCI:C34975 SNOMEDCT_US_2023_03_01:266212009 SNOMEDCT_US_2023_03_01:56528004 UMLS_CUI:C0035012 UMLS_CUI:C0152085 Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy disease_ontology DOID:6196 reactive arthritis An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. 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 NCI:C9425 UMLS_CUI:C1333158 disease_ontology DOID:6197 conventional malignant hemangiopericytoma NCI:C6093 SNOMEDCT_US_2023_03_01:420835009 UMLS_CUI:C1333159 disease_ontology DOID:6198 corneal intraepithelial neoplasm DOID:12757 ICD10CM:C69.1 ICD9CM:190.4 NCI:C3565 NCI:C4361 SNOMEDCT_US_2023_03_01:126997008 SNOMEDCT_US_2023_03_01:93766000 UMLS_CUI:C0153629 UMLS_CUI:C0339304 Corneal tumor malignant Corneal tumor malignant neoplasm of cornea malignant tumor of cornea neoplasm of cornea disease_ontology DOID:6199 cornea cancer A heart valve disease that is located_in the aortic valve. DOID:56 ICD9CM:424.1 MESH:D000082862 NCI:C78650 SNOMEDCT_US_2023_03_01:8722008 UMLS_CUI:C1260873 disease_ontology DOID:62 Updating out dated UMLS CUI. aortic valve disease A heart valve disease that is located_in the aortic valve. url:https://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117 DOID:5883 DOID:7433 ICD10CM:C45.2 NCI:C7631 NCI:C7632 NCI:C8703 SNOMEDCT_US_2023_03_01:187885008 UMLS_CUI:C0346110 UMLS_CUI:C0854883 UMLS_CUI:C1335381 malignant Pericardial Mesothelioma malignant mesothelioma of pericardium disease_ontology DOID:6201 pericardial mesothelioma NCI:C6846 SNOMEDCT_US_2023_03_01:722214003 UMLS_CUI:C1336751 PLAT disease_ontology DOID:6203 thyroid hyalinizing trabecular adenoma NCI:C6615 UMLS_CUI:C1334675 Osteosarcoma of mediastinum disease_ontology DOID:6208 mediastinal osteogenic sarcoma A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6608 UMLS_CUI:C1334598 malignant hemangiopericytoma of mediastinum disease_ontology DOID:6209 malignant mediastinum hemangiopericytoma A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. url:https://pubmed.ncbi.nlm.nih.gov/7967247/ NCI:C39849 UMLS_CUI:C1511187 disease_ontology DOID:6210 bladder diffuse clear cell adenocarcinoma An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. NCI:C4508 SNOMEDCT_US_2023_03_01:254855000 UMLS_CUI:C0346166 Ovarian mixed epithelial tumor Ovarian mixed epithelial tumour mixed epithelial tumour of ovary disease_ontology DOID:6211 mixed epithelial tumor of ovary An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/ An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. DOID:4116 NCI:C40051 NCI:C6257 UMLS_CUI:C1335159 UMLS_CUI:C1518231 endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm disease_ontology DOID:6212 ovarian endometrial cancer 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 An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. NCI:C8430 SNOMEDCT_US_2023_03_01:189683008 UMLS_CUI:C0476121 Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary disease_ontology DOID:6214 ovarian papillary neoplasm An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. url:https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. DOID:4946 NCI:C4127 NCI:C9159 SNOMEDCT_US_2023_03_01:24505004 UMLS_CUI:C0279635 UMLS_CUI:C0334280 disease_ontology DOID:6217 gastric diffuse adenocarcinoma A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159 A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. NCI:C7035 OMIM:175500 UMLS_CUI:C1333764 gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes disease_ontology DOID:6225 Cronkhite-Canada syndrome A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. url:https://pubmed.ncbi.nlm.nih.gov/21881972/ NCI:C7695 SNOMEDCT_US_2023_03_01:15674004 UMLS_CUI:C1368918 primary serous papillary carcinoma of peritoneum disease_ontology DOID:6228 peritoneal serous papillary adenocarcinoma A mature teratoma of the ovary that presents in childhood. NCI:C6548 UMLS_CUI:C1332991 pediatric Mature teratoma of Ovary disease_ontology DOID:6229 childhood mature teratoma of the ovary A mature teratoma of the ovary that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/30165903 An ovarian germ cell teratoma that presents in childhood. NCI:C6554 UMLS_CUI:C1332992 pediatric teratoma of Ovary disease_ontology DOID:6230 childhood teratoma of the ovary An ovarian germ cell teratoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/682093 An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). NCI:C8112 UMLS_CUI:C1334637 disease_ontology DOID:6231 mature teratoma of the ovary An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). url:https://www.ncbi.nlm.nih.gov/pubmed/20212374 An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. NCI:C39992 UMLS_CUI:C1518691 disease_ontology DOID:6232 ovarian biphasic or triphasic teratoma An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. url:https://www.tandfonline.com/doi/abs/10.1586/eog.10.80 DOID:6238 NCI:C27884 NCI:C39831 SNOMEDCT_US_2023_03_01:128625004 UMLS_CUI:C1266010 UMLS_CUI:C1518358 Papillary urothelial neoplasm of low malignant potential bladder PUNLMP bladder papillary neoplasm of low malignant potential disease_ontology DOID:6239 non-invasive bladder papillary urothelial neoplasm ICD10CM:D80.7 NCI:C27071 SNOMEDCT_US_2023_03_01:88714009 UMLS_CUI:C0272238 disease_ontology DOID:624 transient hypogammaglobulinemia of infancy NCI:C8960 UMLS_CUI:C0879606 disease_ontology DOID:6244 familial renal oncocytoma GARD:8477 MESH:C537750 NCI:C4526 OMIM:553000 SNOMEDCT_US_2023_03_01:254922006 UMLS_CUI:C0346255 Oncocytoma of kidney renal epithelial Oncocytic tumor disease_ontology DOID:6245 OMIM mapping confirmed by DO. [SN]. renal oncocytoma NCI:C6812 UMLS_CUI:C1334680 Seminoma of mediastinum disease_ontology DOID:6249 mediastinum seminoma NCI:C27319 UMLS_CUI:C0859960 disease_ontology DOID:625 transient hypogammaglobulinemia MESH:D049912 NCI:C7461 SNOMEDCT_US_2023_03_01:254957009 UMLS_CUI:C0346302 Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary disease_ontology DOID:6255 OMIM mapping confirmed by DO. [SN]. growth hormone secreting pituitary adenoma NCI:C5963 UMLS_CUI:C1334587 malignant Somatotropinoma disease_ontology DOID:6256 malignant growth hormone secreting neoplasm of pituitary NCI:C3687 UMLS_CUI:C1518879 Papillary adenoma of the kidney disease_ontology DOID:6257 chromophil adenoma of the kidney NCI:C39809 UMLS_CUI:C1519706 disease_ontology DOID:6258 type 1 papillary adenoma of the kidney NCI:C39810 UMLS_CUI:C1519710 disease_ontology DOID:6259 type 2 papillary adenoma of the kidney 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. ICD10CM:D84.1 MESH:D000081208 NCI:C4691 SNOMEDCT_US_2023_03_01:191014008 UMLS_CUI:C0272242 Complement deficiency disease disease_ontology DOID:626 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. url:http://en.wikipedia.org/wiki/Complement_deficiency A dendritic cell sarcoma cancer that effects the follicular dendritic cells. ICD10CM:C96.4 ICDO:9758/3 MESH:D054740 NCI:C9281 SNOMEDCT_US_2023_03_01:128816008 UMLS_CUI:C1260325 Follicular Dendritic cell sarcoma Follicular dendritic cell tumour disease_ontology DOID:6262 follicular dendritic cell sarcoma A dendritic cell sarcoma cancer that effects the follicular dendritic cells. url:http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. MESH:D058922 NCI:C4001 SNOMEDCT_US_2023_03_01:254840009 UMLS_CUI:C0278601 Inflammatory carcinoma of breast Mastitis carcinomatosa disease_ontology DOID:6263 inflammatory breast carcinoma A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/ A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. GARD:7628 MESH:D016511 NCI:C3472 SNOMEDCT_US_2023_03_01:190994004 UMLS_CUI:C0085110 SCID combined T and B cell inborn immunodeficiency disease_ontology DOID:627 severe combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells 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/ url:https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency NCI:C6794 UMLS_CUI:C1333763 carcinoma of Cardia of stomach disease_ontology DOID:6270 gastric cardia carcinoma NCI:C5247 UMLS_CUI:C1333762 adenocarcinoma of Cardia of stomach disease_ontology adenocarcinoma of gastric cardia DOID:6271 gastric cardia adenocarcinoma NCI:C5965 UMLS_CUI:C1334627 malignant Thyrotropinoma disease_ontology DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland NCI:C7915 SNOMEDCT_US_2023_03_01:254959007 UMLS_CUI:C0346303 TSH Secreting adenoma of the Pituitary TSH Secreting tumor of Pituitary TSH Secreting tumour of Pituitary TSH producing pituitary tumour Thyrotroph adenoma disease_ontology DOID:6275 TSH producing pituitary tumor NCI:C5964 UMLS_CUI:C1334556 malignant Corticotropinoma of the Pituitary disease_ontology DOID:6276 malignant ACTH producing neoplasm of pituitary gland An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40034 ovarian mucinous adenocarcinofibroma disease_ontology DOID:6278 ovarian mucinous malignant adenofibroma An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/23297622 A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. ICD10CM:D81 ICD9CM:279.2 NCI:C27871 ORDO:101972 SNOMEDCT_US_2023_03_01:442459007 UMLS_CUI:C2711630 Congenital Combined Immunodeficiency disease_ontology DOID:628 Xref MGI. combined T cell and B cell immunodeficiency A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. url:http://en.wikipedia.org/wiki/Combined_immunodeficiencies url:http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 url:https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2 A heart lipoma that is located_in the epicardium and derives_from fat cells. NCI:C6742 UMLS_CUI:C1333411 Lipoma of Epicardium disease_ontology DOID:6284 epicardium lipoma A heart lipoma that is located_in the epicardium and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23438624 NCI:C6741 UMLS_CUI:C1332849 Lipoma of Heart disease_ontology DOID:6285 heart lipoma NCI:C6286 UMLS_CUI:C0278594 pediatric astrocytoma of Cerebellum disease_ontology DOID:6286 childhood cerebellar astrocytic neoplasm NCI:C6220 UMLS_CUI:C1332907 Lipoma of the Cerebral Hemisphere disease_ontology DOID:6291 cerebral hemisphere lipoma A central nervous system benign neoplasm that derives_from fat cells. NCI:C5451 UMLS_CUI:C1332885 Lipoma of the CNS disease_ontology DOID:6293 central nervous system lipoma A central nervous system benign neoplasm that derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/12597248 NCI:C5438 UMLS_CUI:C1333160 Lipoma of the Corpus Callosum disease_ontology DOID:6294 corpus callosum lipoma NCI:C27108 SNOMEDCT_US_2023_03_01:235603003 UMLS_CUI:C0341110 disease_ontology DOID:6297 viral esophagitis A disease that has_material_basis_in genetic variations in the human genome. MESH:D030342 NCI:C3101 SNOMEDCT_US_2023_03_01:32895009 UMLS_CUI:C0019247 disease_ontology DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome. url:http://ghr.nlm.nih.gov/ NCI:C27804 UMLS_CUI:C1333375 disease_ontology DOID:6307 ectopic thymus A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. ICD10CM:M79.7 MESH:D005356 NCI:C87497 SNOMEDCT_US_2023_03_01:1304004 UMLS_CUI:C0016053 disease_ontology DOID:631 fibromyalgia A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. url:https://pubmed.ncbi.nlm.nih.gov/30486733/ url:https://pubmed.ncbi.nlm.nih.gov/32120395/ url:https://pubmed.ncbi.nlm.nih.gov/33024295/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/ A chordoma of skull base that is located in the clivus. NCI:C5412 SNOMEDCT_US_2023_03_01:446939001 UMLS_CUI:C1333071 Chordoma of Clivus disease_ontology DOID:6312 clivus chordoma A chordoma of skull base that is located in the clivus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ A chondroid chordoma and chordoma of the clivus that is located_in the clivus. NCI:C5426 UMLS_CUI:C1333072 Chondroid Chordoma of the Clivus disease_ontology DOID:6313 clivus chondroid chordoma A chondroid chordoma and chordoma of the clivus that is located_in the clivus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. NCI:C39996 UMLS_CUI:C1518715 disease_ontology DOID:6314 ovarian fetiform teratoma A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. url:https://www.ncbi.nlm.nih.gov/pubmed/28446797 A mature teratoma of the ovary that is predominantly solid with interspersed cysts. NCI:C7285 UMLS_CUI:C1335181 disease_ontology DOID:6315 ovarian solid teratoma A mature teratoma of the ovary that is predominantly solid with interspersed cysts. url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 url:https://www.ncbi.nlm.nih.gov/pubmed/27636886 A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. NCI:C7719 UMLS_CUI:C0238016 Bartholin gland adenocarcinoma adenocarcinoma of the Bartholin's gland disease_ontology adenocarcinoma of bartholin's gland DOID:6316 Bartholin's gland adenocarcinoma A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. url:https://en.wikipedia.org/wiki/Adenocarcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/7272963 An adamantinoma of long bone that is located_in the tibia. NCI:C8461 SNOMEDCT_US_2023_03_01:210233007 UMLS_CUI:C1273017 Tibial adamantinoma morphology disease_ontology DOID:6322 tibial adamantinoma An adamantinoma of long bone that is located_in the tibia. url:https://www.ncbi.nlm.nih.gov/pubmed/30210255 A myopathy characterized by muscle inflammation. ICD10CM:M60 MESH:D009220 NCI:C27578 OMIM:160750 SNOMEDCT_US_2023_03_01:26889001 UMLS_CUI:C0027121 Inflammatory disorder of muscle disease_ontology DOID:633 OMIM mapping confirmed by DO. [SN]. myositis A myopathy characterized by muscle inflammation. url:http://www.nlm.nih.gov/medlineplus/myositis.html url:https://en.wikipedia.org/wiki/Myositis A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. NCI:C8111 SNOMEDCT_US_2023_03_01:254871000 UMLS_CUI:C0346182 malignant teratoma of Ovary disease_ontology DOID:6331 immature teratoma of ovary A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. url:https://www.ncbi.nlm.nih.gov/pubmed/26142911 NCI:C7946 UMLS_CUI:C0279547 disease_ontology DOID:6332 adult malignant hemangiopericytoma NCI:C9183 UMLS_CUI:C1334558 adult malignant intracranial hemangiopericytoma disease_ontology DOID:6333 adult intracranial malignant hemangiopericytoma NCI:C7538 UMLS_CUI:C1332308 disease_ontology DOID:6334 anterior optic tract meningioma MESH:C000608854 NCI:C5304 UMLS_CUI:C1332551 Bilateral meningioma of the optic nerve disease_ontology DOID:6335 bilateral meningioma of optic nerve NCI:C5300 SNOMEDCT_US_2023_03_01:126948004 UMLS_CUI:C1263882 meningioma of the Cerebellar Pontine Angle disease_ontology DOID:6337 cerebellopontine angle meningioma A vulva adenocarcinoma that has_material_basis_in eccrine glands. NCI:C40305 disease_ontology DOID:6339 vulvar eccrine adenocarcinoma A vulva adenocarcinoma that has_material_basis_in eccrine glands. url:https://www.ncbi.nlm.nih.gov/pubmed/27832810 NCI:C6910 SNOMEDCT_US_2023_03_01:19897006 UMLS_CUI:C1321709 melanocytic psammomatous MPNST disease_ontology DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor NCI:C4748 SNOMEDCT_US_2023_03_01:404039004 UMLS_CUI:C0474847 Melanotic malignant nerve sheath tumor Melanotic malignant peripheral nerve sheath tumor Melanotic malignant peripheral nerve sheath tumour melanocytic MPNST disease_ontology DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter 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. EFO:0000765 ICD10CM:B20 MESH:D000163 NCI:C2851 SNOMEDCT_US_2023_03_01:62479008 UMLS_CUI:C0001175 AIDS acquired Immune deficiency disease_ontology acquired immune deficiency syndrome DOID:635 acquired immunodeficiency syndrome MESH:D000163 A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter 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 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. ICDO:9823/3 NCI:C27911 SNOMEDCT_US_2023_03_01:399607007 UMLS_CUI:C1302547 B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL disease_ontology DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma 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 url:https://lymphoma.org/aboutlymphoma/cll/ A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. GARD:8749 ICD10CM:G37.2 MESH:D017590 NCI:C84623 SNOMEDCT_US_2023_03_01:6807001 UMLS_CUI:C0206083 osmotic demyelination syndrome disease_ontology DOID:636 central pontine myelinolysis A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. url:https://en.wikipedia.org/wiki/Central_pontine_myelinolysis url:https://pubmed.ncbi.nlm.nih.gov/25220878/ 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 ICD10CM:G43 ICD9CM:346 MESH:D008881 NCI:C89715 OMIM:157300 SNOMEDCT_US_2023_03_01:155046006 SNOMEDCT_US_2023_03_01:193036004 UMLS_CUI:C0042331 UMLS_CUI:C0149931 migraine disorder migraine variant migraine with or without aura disease_ontology DOID:6364 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.com/health/migraine-headache/DS00120 NCI:C5833 UMLS_CUI:C1333974 Osteosarcoma of Liver disease_ontology DOID:6370 hepatic osteogenic sarcoma ICD10CM:D73.1 ICD9CM:289.4 MESH:D006971 NCI:C34714 SNOMEDCT_US_2023_03_01:154839008 UMLS_CUI:C0020532 hypersplenia disease_ontology DOID:6376 hypersplenism A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. ICDO:8728/0 NCI:C6890 ORDO:252031 SNOMEDCT_US_2023_03_01:128729004 UMLS_CUI:C1266112 Diffuse Melanosis Diffuse melanocytosis Meningeal melanocytosis disease_ontology DOID:6379 diffuse meningeal melanocytosis A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. url:https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us NCI:C5281 UMLS_CUI:C1332302 meningioma of the Anterior Foramen Magnum disease_ontology DOID:6381 anterior foramen magnum meningioma GARD:9306 NCI:C9042 UMLS_CUI:C0278600 pediatric glioma of the Brainstem disease_ontology DOID:6383 childhood brain stem glioma NCI:C6216 UMLS_CUI:C1332950 disease_ontology DOID:6386 childhood brainstem astrocytoma 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. GARD:8639 MESH:D004673 NCI:C34578 SNOMEDCT_US_2023_03_01:83942000 UMLS_CUI:C0014059 ADEM acute disseminated encephalitis disease_ontology DOID:639 acute disseminated encephalomyelitis 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 MESH:D004679 NCI:C34580 SNOMEDCT_US_2023_03_01:154991009 UMLS_CUI:C0014070 Encephalitis &/or myelitis disease_ontology DOID:640 encephalomyelitis MESH:D004679 ICDO:8325/0 NCI:C27253 SNOMEDCT_US_2023_03_01:128670007 UMLS_CUI:C1266045 disease_ontology DOID:6404 metanephric adenoma An ovarian cystadenoma that is characterized by the presence of finger-like projections. NCI:C7278 UMLS_CUI:C1335175 disease_ontology DOID:6405 ovarian papillary cystadenoma An ovarian cystadenoma that is characterized by the presence of finger-like projections. url:https://www.sciencedirect.com/science/article/pii/S0002961041905159 GARD:1908 ICD10CM:Q20.1 ICD9CM:745.11 MESH:D004310 NCI:C98916 OMIM:217095 ORDO:3426 SNOMEDCT_US_2023_03_01:7484005 UMLS_CUI:C0013069 Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect disease_ontology DOID:6406 OMIM mapping confirmed by DO. [SN]. double outlet right ventricle An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. NCI:C7279 UMLS_CUI:C1335183 disease_ontology DOID:6407 ovarian surface papilloma An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/439088 An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. NCI:C6256 UMLS_CUI:C1335178 serous Surface Papillary carcinoma of Ovary disease_ontology DOID:6408 ovary papillary carcinoma An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. url:https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 url:https://www.ncbi.nlm.nih.gov/pubmed/7185762 GARD:2245 ICD10CM:Q21.3 ICD9CM:745.2 MESH:D013771 NCI:C84505 OMIM:187500 SNOMEDCT_US_2023_03_01:156913009 UMLS_CUI:C0039685 Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle disease_ontology DOID:6419 OMIM mapping confirmed by DO. [LS]. tetralogy of Fallot NCI:C27404 UMLS_CUI:C1332955 disease_ontology DOID:6423 childhood central nervous system mature teratoma NCI:C6078 UMLS_CUI:C0920196 carcinoma of the eyelid disease_ontology DOID:6425 eyelid carcinoma A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells. NCI:C40213 SNOMEDCT_US_2023_03_01:763063001 UMLS_CUI:C1516403 disease_ontology DOID:6428 cervical adenoid basal carcinoma A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells. url:https://www.ncbi.nlm.nih.gov/pubmed/10872669 url:https://www.ncbi.nlm.nih.gov/pubmed/25207054 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. GARD:7468 ICD10CM:A81.2 ICD9CM:046.3 MESH:D007968 NCI:C26815 SNOMEDCT_US_2023_03_01:22255007 UMLS_CUI:C0023524 disease_ontology PML DOID:643 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. 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 A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. ICD10CM:I27.20 MESH:D006976 NCI:C3120 SNOMEDCT_US_2023_03_01:155328008 UMLS_CUI:C0020542 disease_ontology DOID:6432 pulmonary hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. url:https://en.wikipedia.org/wiki/Pulmonary_hypertension url:https://www.ncbi.nlm.nih.gov/pubmed/19555858 NCI:C4561 SNOMEDCT_US_2023_03_01:255021005 UMLS_CUI:C0346388 malignant melanoma of choroid melanoma of the Choroid disease_ontology DOID:6438 malignant choroid melanoma NCI:C40060 UMLS_CUI:C1518711 disease_ontology DOID:6445 ovarian endometrioid malignant adenofibroma ICDO:8420/3 NCI:C4176 SNOMEDCT_US_2023_03_01:58069009 UMLS_CUI:C0334353 disease_ontology DOID:6446 ceruminous adenocarcinoma A vulva adenocarcinoma that has_material_basis_in apocrine glands. NCI:C40308 disease_ontology DOID:6448 vulvar apocrine adenocarcinoma A vulva adenocarcinoma that has_material_basis_in apocrine glands. url:https://www.ncbi.nlm.nih.gov/pubmed/24179652 NCI:C5465 UMLS_CUI:C1332879 Fibrosarcoma of the CNS disease_ontology DOID:6451 central nervous system fibrosarcoma A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. DOID:3471 GARD:6202 ICDO:9493/0 MESH:D006223 NCI:C3076 NCI:C8419 OMIM:PS158350 ORDO:201 SNOMEDCT_US_2023_03_01:58037000 SNOMEDCT_US_2023_03_01:67944007 UMLS_CUI:C0018553 UMLS_CUI:C0391826 Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum disease_ontology multiple hamartoma syndrome DOID:6457 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cowden syndrome A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. 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 A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. GARD:10642 ICDO:9506/1 NCI:C6905 SNOMEDCT_US_2023_03_01:734134003 UMLS_CUI:C1370507 Lipomatous Medulloblastoma disease_ontology DOID:6458 cerebellar liponeurocytoma A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. url:https://pubmed.ncbi.nlm.nih.gov/33964714/ A rectal benign neoplasm that has_material_basis_in fat tissue. NCI:C5551 UMLS_CUI:C1335684 lipoma of the rectum disease_ontology DOID:6459 rectal lipoma A rectal benign neoplasm that has_material_basis_in fat tissue. url:https://pubmed.ncbi.nlm.nih.gov/22084744/ An encephalitis that involves inflammation of the brain caused by viral infection. DOID:10248 DOID:10249 DOID:10839 MESH:D004671 NCI:C34576 SNOMEDCT_US_2023_03_01:68197003 UMLS_CUI:C0014055 epidemic encephalitis disease_ontology DOID:646 viral encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. NCI:C5678 SNOMEDCT_US_2023_03_01:1196824005 UMLS_CUI:C1333114 Lipoma of large Intestine disease_ontology DOID:6460 large intestine lipoma An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. url:https://www.ncbi.nlm.nih.gov/pubmed/24950559 A cystadenofibroma that is characterized by the presence of mucin. NCI:C8979 SNOMEDCT_US_2023_03_01:10705005 UMLS_CUI:C1377844 disease_ontology DOID:6468 mucinous cystadenofibroma A cystadenofibroma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/23297622 An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40040 UMLS_CUI:C1518723 disease_ontology DOID:6469 ovarian mucinous adenofibroma An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/1996729 NCI:C6539 UMLS_CUI:C1333008 pediatric testicular Teratocarcinoma disease_ontology DOID:6474 childhood teratocarcinoma of the testis NCI:C39827 UMLS_CUI:C1512737 disease_ontology DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma NCI:C27885 UMLS_CUI:C1334281 Invasive bladder Urothelial carcinoma disease_ontology DOID:6477 invasive bladder transitional cell carcinoma NCI:C6163 UMLS_CUI:C1332563 urinary bladder Signet Ring adenocarcinoma disease_ontology signet ring cell adenocarcinoma of bladder DOID:6481 bladder signet ring cell adenocarcinoma NCI:C5649 UMLS_CUI:C1332137 acinar adenocarcinoma of the lung disease_ontology DOID:6482 lung acinar adenocarcinoma A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. NCI:C39956 UMLS_CUI:C1514910 disease_ontology DOID:6483 rete testis adenoma A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. url:https://www.ncbi.nlm.nih.gov/pubmed/10320920 NCI:C6635 UMLS_CUI:C1334668 melanocytic Schwannoma of mediastinum disease_ontology DOID:6484 mediastinal melanocytic neurilemmoma NCI:C8970 SNOMEDCT_US_2023_03_01:91242000 UMLS_CUI:C1377843 periosteal osteosarcoma disease_ontology DOID:6489 periosteal osteogenic sarcoma 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. ICD10CM:A81.9 KEGG:05020 MESH:D017096 NCI:C128346 SNOMEDCT_US_2023_03_01:20484008 UMLS_CUI:C0162534 Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy disease_ontology DOID:649 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. url:http://en.wikipedia.org/wiki/Prion url:http://www.cdc.gov/ncidod/dvrd/prions/ A breast hemangioma that is characterized by capillary-sized vessels. NCI:C5210 UMLS_CUI:C1332619 Capillary Angioma of breast disease_ontology DOID:6491 breast capillary hemangioma A breast hemangioma that is characterized by capillary-sized vessels. url:http://www.pathologyoutlines.com/topic/breasthemangioma.html url:https://www.ncbi.nlm.nih.gov/pubmed/26687640 A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. NCI:C5211 UMLS_CUI:C1332627 breast Histiocytoid hemangioma disease_ontology DOID:6492 breast epithelioid hemangioma A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/ NCI:C27377 UMLS_CUI:C1332984 pediatric myxoid chondrosarcoma disease_ontology DOID:6494 childhood myxoid chondrosarcoma GARD:3108 ICD10CM:L82 ICD9CM:702.1 MESH:D017492 NCI:C9006 OMIM:182000 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C0022603 disease_ontology DOID:6498 OMIM mapping confirmed by DO. [SN]. seborrheic keratosis A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. MESH:D003240 NCI:C26729 SNOMEDCT_US_2023_03_01:201432001 UMLS_CUI:C0009782 connective tissue disorder disorder of connective tissue disease_ontology DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp NCI:C5146 UMLS_CUI:C1332900 Hemangioblastoma of Cerebellum disease_ontology DOID:6500 cerebellar angioblastoma A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. NCI:C5147 UMLS_CUI:C1332611 Hemangioblastoma of Brainstem disease_ontology DOID:6501 brain stem angioblastoma A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. url:https://en.wikipedia.org/wiki/Hemangioblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/19787293 A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. NCI:C40280 UMLS_CUI:C1511107 disease_ontology DOID:6505 vaginal spindle cell epithelioma A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/ NCI:C6686 UMLS_CUI:C1335100 Occult squamous cell carcinoma of the lung disease_ontology occult squamous cell carcinoma of lung DOID:6510 lung occult squamous cell carcinoma An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. NCI:C39988 UMLS_CUI:C1518747 disease_ontology DOID:6511 glandular pattern ovarian yolk sac tumor An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. url:https://www.ncbi.nlm.nih.gov/pubmed/25395492 An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. NCI:C39989 UMLS_CUI:C1518748 disease_ontology DOID:6512 hepatoid pattern ovarian yolk sac tumor An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. NCI:C39987 UMLS_CUI:C1518749 disease_ontology DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html NCI:C5289 UMLS_CUI:C1333073 meningioma of the Clivus disease_ontology DOID:6517 clivus meningioma A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. NCI:C40300 UMLS_CUI:C1511049 Bartholin gland adenomyoma disease_ontology DOID:6518 Bartholin's gland adenomyoma A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/9785128 NCI:C35781 UMLS_CUI:C1334782 disease_ontology DOID:6522 mixed cell uveal melanoma NCI:C35783 UMLS_CUI:C1333051 disease_ontology DOID:6523 ciliary body mixed cell melanoma NCI:C4558 SNOMEDCT_US_2023_03_01:255015006 UMLS_CUI:C0346379 malignant melanoma of ciliary body melanoma of the Ciliary body disease_ontology DOID:6524 malignant ciliary body melanoma NCI:C35782 UMLS_CUI:C1333025 disease_ontology DOID:6525 choroid mixed cell melanoma A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. NCI:C6888 SNOMEDCT_US_2023_03_01:128713007 UMLS_CUI:C1266095 Polygonal cell Thymoma Thymoma, cortical cortical thymoma disease_ontology DOID:6530 thymoma type B2 A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ NCI:C5368 UMLS_CUI:C1332850 Lymphoma of Heart disease_ontology DOID:6547 heart lymphoma ICDO:9534/0 MESH:D008579 NCI:C4332 SNOMEDCT_US_2023_03_01:73918009 UMLS_CUI:C0334608 disease_ontology DOID:6548 angiomatous meningioma A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. MESH:D008661 NCI:C34816 SNOMEDCT_US_2023_03_01:86095007 UMLS_CUI:C0025521 Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder disease_ontology DOID:655 inherited metabolic disorder A disease of metabolism that is characterized by 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 NCI:C6764 UMLS_CUI:C1333788 small cell carcinoma of stomach disease_ontology DOID:6552 gastric small cell carcinoma NCI:C5282 UMLS_CUI:C1335449 meningioma of the Posterior Foramen Magnum disease_ontology DOID:6553 posterior foramen magnum meningioma An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40079 ovarian clear cell adenocarcinofibroma disease_ontology DOID:6554 ovarian clear cell malignant adenofibroma An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/6692303 NCI:C6836 UMLS_CUI:C1333476 Schneiderian papilloma of the ethmoid sinus disease_ontology DOID:6559 ethmoid sinus Schneiderian papilloma NCI:C6843 UMLS_CUI:C1333474 Inverted papilloma of the ethmoid sinus disease_ontology DOID:6562 ethmoid sinus inverted papilloma NCI:C5418 UMLS_CUI:C1335435 Schwannoma of Pleura disease_ontology DOID:6564 neurilemmoma of the pleura DOID:6746 NCI:C9089 NCI:C9090 UMLS_CUI:C0278867 UMLS_CUI:C0278868 medium/large size posterior uveal melanoma small size posterior uveal melanoma disease_ontology DOID:6566 posterior uveal melanoma A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. NCI:C40175 UMLS_CUI:C1519861 disease_ontology DOID:6567 uterine corpus myxoid leiomyosarcoma A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/26866354 NCI:C40290 UMLS_CUI:C1519982 disease_ontology DOID:6569 micropapillomatosis labialis A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. DOID:2655 ICDO:8140/0 MESH:D000236 NCI:C2855 NCI:C4196 SNOMEDCT_US_2023_03_01:443416007 SNOMEDCT_US_2023_03_01:79041005 UMLS_CUI:C0001430 UMLS_CUI:C0334389 acinar cell adenoma acinic cell adenoma adenomas disease_ontology DOID:657 adenoma MESH:D000236 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 NCI:C7534 UMLS_CUI:C1333014 pediatric visual pathway astrocytoma disease_ontology DOID:6575 childhood optic tract astrocytoma MESH:D020339 NCI:C7535 UMLS_CUI:C0278653 glioma of the pediatric visual pathway disease_ontology DOID:6576 childhood optic nerve glioma A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. NCI:C6724 UMLS_CUI:C1334572 malignant bone tumor of the Chest Wall disease_ontology malignant bone neoplasm of chest wall DOID:6579 chest wall bone cancer A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. url:https://www.ncbi.nlm.nih.gov/pubmed/10451260 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. NCI:C5141 UMLS_CUI:C1332316 disease_ontology apocrine carcinoma of breast DOID:6581 breast apocrine carcinoma A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. url:http://surgpathcriteria.stanford.edu/breast/apocrinecabr/ url:https://www.ncbi.nlm.nih.gov/pubmed/23771415 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. ICDO:8290/3 NCI:C40366 UMLS_CUI:C1518574 oncocytic breast carcinoma disease_ontology DOID:6585 breast oncocytic carcinoma A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. url:http://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/21111455 A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. ICDO:8211/3 NCI:C9135 UMLS_CUI:C1328544 Invasive tubular carcinoma of breast invasive tubular breast carcinoma tubular carcinoma of breast disease_ontology DOID:6587 breast tubular carcinoma A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/ NCI:C39835 UMLS_CUI:C1511188 disease_ontology DOID:6594 bladder colonic type adenocarcinoma NCI:C5473 UMLS_CUI:C1333791 tubular adenocarcinoma of stomach disease_ontology DOID:6595 gastric tubular adenocarcinoma DOID:3949 ICD10CM:C74.0 MESH:D000306 NCI:C2858 NCI:C9327 SNOMEDCT_US_2023_03_01:127022002 SNOMEDCT_US_2023_03_01:93664009 UMLS_CUI:C0001618 UMLS_CUI:C0346402 Adrenal cortical tumors malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex disease_ontology DOID:660 adrenal cortex cancer NCI:C27888 UMLS_CUI:C1333062 disease_ontology DOID:6605 classic variant of chromophobe renal cell carcinoma NCI:C27889 UMLS_CUI:C1333405 disease_ontology DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma NCI:C6997 Hibernoma of nervous system disease_ontology DOID:6607 nervous system hibernoma NCI:C5661 UMLS_CUI:C1333386 disease_ontology DOID:6608 endobronchial leiomyoma DOID:487 NCI:C5396 NCI:C6477 SNOMEDCT_US_2023_03_01:685021000119103 UMLS_CUI:C1332575 UMLS_CUI:C1332578 bone hemangioma hemangioma of bone osseous epithelioid hemangioma osseous hemangioma disease_ontology DOID:6610 bone epithelioid hemangioma A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. NCI:C40259 UMLS_CUI:C1519936 disease_ontology DOID:6613 vaginal villous adenoma A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/18603704 A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. GARD:73 MESH:D053307 NCI:C158531 OMIM:308230 ORDO:101088 SNOMEDCT_US_2023_03_01:403835002 UMLS_CUI:C0398689 HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1 disease_ontology DOID:6620 X-linked hyper IgM syndrome GARD:73 MESH:D053307 NCI:C158531 OMIM:308230 ORDO:101088 SNOMEDCT_US_2023_03_01:403835002 UMLS_CUI:C0398689 A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. url:https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. NCI:C5433 UMLS_CUI:C0877388 hemangioma of Cerebrum disease_ontology DOID:6621 cerebral angioma A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. url:https://en.wikipedia.org/wiki/Cavernous_hemangioma A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. NCI:C40206 UMLS_CUI:C1516423 disease_ontology DOID:6627 cervical adenoma malignum A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. url:http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html url:https://www.ncbi.nlm.nih.gov/pubmed/23936961 A breast carcinoma that is located_in the nipple. NCI:C28432 UMLS_CUI:C1334966 disease_ontology DOID:6629 nipple carcinoma A breast carcinoma that is located_in the nipple. url:http://www.cancer.gov/dictionary?CdrID=45963 NCI:C6387 UMLS_CUI:C1335936 hemangioma of scrotum disease_ontology DOID:663 scrotal angioma A choriocarcinoma that is located in the central nervous system of an adult. NCI:C5793 UMLS_CUI:C1370505 Choriocarcinoma of the adult central nervous system disease_ontology DOID:6634 adult central nervous system choriocarcinoma A choriocarcinoma that is located in the central nervous system of an adult. url:https://en.wikipedia.org/wiki/Choriocarcinoma A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. NCI:C6206 UMLS_CUI:C1377604 Choriocarcinoma of the paediatric central nervous system Choriocarcinoma of the pediatric central nervous system paediatric CNS choriocarcinoma pediatric CNS choriocarcinoma disease_ontology DOID:6639 childhood CNS choriocarcinoma A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. url:http://www.ajnr.org/content/31/10/1994 NCI:C7752 SNOMEDCT_US_2023_03_01:254789007 UMLS_CUI:C0263639 Fordyce angiokeratoma Fordyce's spot Fordyce-type Angiokeratoma of scrotum disease_ontology DOID:664 angiokeratoma of Fordyce A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. NCI:C9503 SNOMEDCT_US_2023_03_01:708518001 UMLS_CUI:C1334303 Juvenile papillomatosis of the breast disease_ontology DOID:6641 breast juvenile papillomatosis A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. url:http://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/7074576 NCI:C8292 UMLS_CUI:C0281332 disease_ontology DOID:6648 adult pineoblastoma A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. GARD:6460 ICD10CM:M48.1 ICD9CM:721.6 MESH:D004057 NCI:C84671 OMIM:106400 SNOMEDCT_US_2023_03_01:31487001 UMLS_CUI:C0020498 Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis disease_ontology Forestier disease DOID:6652 OMIM mapping confirmed by DO. [SN]. diffuse idiopathic skeletal hyperostosis 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 NCI:C27405 UMLS_CUI:C1332954 disease_ontology DOID:6654 childhood central nervous system immature teratoma A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). NCI:C40356 UMLS_CUI:C1511316 disease_ontology DOID:6657 breast large cell neuroendocrine carcinoma A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/ DOID:5721 NCI:C5672 NCI:C6875 SNOMEDCT_US_2023_03_01:128628002 UMLS_CUI:C1265996 UMLS_CUI:C1334363 disease_ontology DOID:6658 pulmonary large cell neuroendocrine carcinoma A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. NCI:C40214 UMLS_CUI:C1516417 disease_ontology DOID:6659 cervical large cell neuroendocrine carcinoma A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. url:https://www.ncbi.nlm.nih.gov/pubmed/30642849 A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. GARD:6463 ICD10CM:E23.6 MESH:D007027 NCI:C34625 SNOMEDCT_US_2023_03_01:62999006 UMLS_CUI:C0016724 Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome adiposogenital syndrome disease_ontology DOID:6676 Froelich syndrome A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. url:https://en.wikipedia.org/wiki/Adiposogenital_dystrophy 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. NCI:C35699 SNOMEDCT_US_2023_03_01:449784008 UMLS_CUI:C1333292 disease_ontology DOID:6677 No OMIM mapping, confirmed by DO. [LS]. 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. url:http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21295898 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. MESH:C536736 NCI:C40553 OMIM:189500 SNOMEDCT_US_2023_03_01:400036004 UMLS_CUI:C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome Witkop's syndrome disease_ontology DOID:6678 OMIM mapping confirmed by DO. [LS]. 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 A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. MESH:D009221 NCI:C3253 SNOMEDCT_US_2023_03_01:44551007 UMLS_CUI:C0027122 Myisitis ossificans Ossification - muscle disease_ontology DOID:668 myositis 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 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. MESH:D002194 NCI:C34446 SNOMEDCT_US_2023_03_01:44906001 UMLS_CUI:C0006895 Capgras delusion theory disease_ontology DOID:6680 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. url:http://en.wikipedia.org/wiki/Capgras_delusion A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. ICD10CM:M43.1 MESH:D013168 NCI:C35033 OMIM:184200 SNOMEDCT_US_2023_03_01:157003009 UMLS_CUI:C0038016 disease_ontology DOID:6682 spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. url:http://en.wikipedia.org/wiki/Spondylolisthesis url:http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. GARD:4775 ICD10CM:Q87.19 MESH:C535331 NCI:C129720 OMIM:305400 SNOMEDCT_US_2023_03_01:205809002 UMLS_CUI:C0175701 Aarskog-Scott syndrome Greig's syndrome disease_ontology DOID:6683 OMIM mapping confirmed by DO. [SN]. X-linked Aarskog syndrome A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. url:http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. GARD:8176 MESH:C536012 NCI:C35809 OMIM:100700 UMLS_CUI:C1332135 disease_ontology DOID:6686 OMIM mapping confirmed by DO. [SN]. Achard syndrome 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 NCI:C35467 SNOMEDCT_US_2023_03_01:238824006 UMLS_CUI:C0473563 Paroxysmal hematoma of the finger disease_ontology DOID:6687 Achenbach 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. GARD:8686 ICD10CM:D89.82 ICD9CM:279.41 MESH:D056735 NCI:C37864 OMIM:601859 ORDO:3261 SNOMEDCT_US_2023_03_01:702444009 UMLS_CUI:C1328840 ALPS Canale-Smith syndrome disease_ontology DOID:6688 Xref MGI. OMIM mapping confirmed by DO. [SN]. autoimmune lymphoproliferative syndrome MESH:D056735 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 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. GARD:370 MESH:C535330 NCI:C35709 OMIM:214900 ORDO:1414 SNOMEDCT_US_2023_03_01:28724005 UMLS_CUI:C0268314 Cholestasis-edema syndrome, Norwegian type disease_ontology DOID:6691 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Aagenaes_syndrome A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. ICD10CM:M53.0 MESH:D055010 NCI:C34411 SNOMEDCT_US_2023_03_01:17300000 UMLS_CUI:C0376378 Cervicocranial syndrome Posterior cervical sympathetic syndrome disease_ontology DOID:6692 No OMIM mapping confirmed by DO. [SN]. Barre-Lieou syndrome 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/ A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. NCI:C39935 UMLS_CUI:C1515290 disease_ontology DOID:6693 testicular monophasic choriocarcinoma A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. url:https://pubmed.ncbi.nlm.nih.gov/9060597/ NCI:C6471 UMLS_CUI:C1336544 disease_ontology DOID:6696 synchronous multifocal osteogenic sarcoma NCI:C6472 UMLS_CUI:C1332342 disease_ontology DOID:6697 asynchronous multifocal osteogenic sarcoma NCI:C8398 SNOMEDCT_US_2023_03_01:254555008 UMLS_CUI:C0345799 cancer of Fundus of stomach carcinoma of fundus of stomach disease_ontology DOID:6700 gastric fundus carcinoma NCI:C6795 UMLS_CUI:C1333787 carcinoma of Pylorus of stomach disease_ontology DOID:6703 gastric pylorus carcinoma NCI:C8399 SNOMEDCT_US_2023_03_01:254557000 UMLS_CUI:C0345804 cancer of body of stomach carcinoma of body of stomach disease_ontology DOID:6705 gastric body carcinoma NCI:C40959 UMLS_CUI:C1515294 disease_ontology DOID:6706 tubular variant testicular seminoma NCI:C4335 SNOMEDCT_US_2023_03_01:189951004 UMLS_CUI:C0334616 MPNST with Rhabdomyosarcoma MPNST with rhabdomyoblastic differentiation malignant Triton tumour malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma disease_ontology DOID:6707 malignant triton tumor An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. DOID:12214 DOID:3455 DOID:8231 EFO:0000712 ICD10CM:I67.9 ICD9CM:437.9 MESH:D002561 NCI:C2938 SNOMEDCT_US_2023_03_01:266312006 UMLS_CUI:C0007820 CVA cerebrovascular disorder stroke disease_ontology DOID:6713 OMIM mapping confirmed by DO. [SN]. cerebrovascular disease An vascular 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/ A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. DOID:671 GARD:7683 ICD10CM:C26.1 MESH:D013160 NCI:C3383 NCI:C3539 SNOMEDCT_US_2023_03_01:127230005 SNOMEDCT_US_2023_03_01:94071006 UMLS_CUI:C0037999 UMLS_CUI:C0153470 Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm disease_ontology DOID:672 spleen cancer A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/ A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. NCI:C39865 UMLS_CUI:C1516285 disease_ontology DOID:6721 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. url:http://en.wikipedia.org/wiki/Urethral_gland NCI:C6886 SNOMEDCT_US_2023_03_01:128710005 UMLS_CUI:C1266093 Thymoma, mixed type, malignant disease_ontology DOID:6723 malignant type AB thymoma 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 ICD10CM:M48.0 ICD10CM:M48.02 ICD10CM:M48.061 ICD9CM:723.0 ICD9CM:724.00 MESH:D013130 NCI:C177444 NCI:C177445 SNOMEDCT_US_2023_03_01:18347007 SNOMEDCT_US_2023_03_01:268082002 SNOMEDCT_US_2023_03_01:83561009 UMLS_CUI:C0037944 UMLS_CUI:C0158280 UMLS_CUI:C0158288 Spinal stenosis of lumbar region cervical spinal stenosis lumbar spinal stenosis disease_ontology DOID:6725 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 A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. ICDO:9420/3 MESH:D001254 NCI:C4322 SNOMEDCT_US_2023_03_01:71314006 UMLS_CUI:C0334582 Fibrillary Astrocytic tumors disease_ontology DOID:6726 fibrillary astrocytoma A malignant 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.cancer.gov/dictionary?CdrID=45602 NCI:C6761 UMLS_CUI:C1333099 Colonic small cell carcinoma disease_ontology DOID:6727 colon small cell carcinoma A bile duct cystadenoma located_in an intrahepatic bile duct. NCI:C96835 UMLS_CUI:C1334257 Cystadenoma of the Intrahepatic bile duct disease_ontology DOID:6733 intrahepatic bile duct cystadenoma A bile duct cystadenoma located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/19630118/ NCI:C5323 UMLS_CUI:C1334300 Neurilemmoma of Jugular Foramen disease_ontology DOID:6735 schwannoma of jugular foramen 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. ICD10CM:Q35 ICD9CM:749.0 MESH:D002972 NCI:C87069 ORDO:99772 SNOMEDCT_US_2023_03_01:156940009 UMLS_CUI:C0008925 Palatoschisis disease_ontology DOID:674 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate url:http://ghr.nlm.nih.gov/glossary=cleftpalate NCI:C7982 UMLS_CUI:C0279674 small cell carcinoma of the Cervix Uteri disease_ontology small cell carcinoma of the cervix DOID:6740 cervix small cell carcinoma A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. NCI:C8287 UMLS_CUI:C0281267 Bilateral breast carcinoma disease_ontology DOID:6741 bilateral breast cancer 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 NCI:C40370 UMLS_CUI:C1515107 disease_ontology DOID:6742 synchronous bilateral breast carcinoma An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. NCI:C5452 UMLS_CUI:C1334226 Lipoma of the Internal Auditory canal disease_ontology DOID:6752 internal auditory canal lipoma An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. url:https://www.ncbi.nlm.nih.gov/pubmed/19813171 A thoracic cancer that is located_in the chest wall. DOID:3724 NCI:C4580 NCI:C6712 SNOMEDCT_US_2023_03_01:93754006 UMLS_CUI:C0346948 UMLS_CUI:C1332933 Lymphoma of the Chest Wall chest wall cancer lymphoma of chest wall malignant neoplasm of chest wall malignant tumor of Chest Wall disease_ontology DOID:6758 chest wall lymphoma A thoracic cancer that is located_in the chest wall. url:http://en.wikipedia.org/wiki/Chest_wall A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. NCI:C6620 SNOMEDCT_US_2023_03_01:766935007 UMLS_CUI:C1332582 Lymphoma of the bone lymphoma of bone disease_ontology DOID:6759 bone lymphoma 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:https://orthoinfo.aaos.org/en/diseases--conditions/primary-lymphoma-of-bone 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 GARD:3067 ICD10CM:M08.4 ICD9CM:714.3 ICD9CM:714.31 ICD9CM:714.32 ICD9CM:714.33 NCI:C26979 NCI:C61279 OMIM:604302 ORDO:92 SNOMEDCT_US_2023_03_01:201798003 SNOMEDCT_US_2023_03_01:74391003 SNOMEDCT_US_2023_03_01:7441009 SNOMEDCT_US_2023_03_01:83793004 UMLS_CUI:C0157916 UMLS_CUI:C0157917 UMLS_CUI:C0157918 UMLS_CUI:C0409667 Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis disease_ontology DOID:676 Xref MGI. 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 NCI:C6716 UMLS_CUI:C1336504 Lymphoma of Sternum lymphoma of the sternum disease_ontology DOID:6762 sternum lymphoma An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. NCI:C39990 UMLS_CUI:C1514199 disease_ontology DOID:6774 polyembryoma of the ovary An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. url:https://en.wikipedia.org/wiki/Polyembryoma A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. NCI:C40395 UMLS_CUI:C1518167 disease_ontology DOID:6776 breast myoepithelial carcinoma A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/ An endometrial adenocarcinoma that is characterized by papillary differentiation. NCI:C27846 UMLS_CUI:C1336962 disease_ontology DOID:6777 villoglandular endometrial endometrioid adenocarcinoma An endometrial adenocarcinoma that is characterized by papillary differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/8179072 A movement disease that is 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. GARD:7471 ICD10CM:G23.1 MESH:D013494 NCI:C85028 OMIM:601104 OMIM:609454 OMIM:610898 ORDO:683 SNOMEDCT_US_2023_03_01:192975003 UMLS_CUI:C0038868 Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia disease_ontology DOID:678 Xref MGI. OMIM mapping confirmed by DO. [SN]. progressive supranuclear palsy A movement disease that is 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 A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. GARD:6265 ICDO:8806/3 NCI:C8300 desmoplastic small round-cell neoplasm disease_ontology DOID:6785 desmoplastic small round cell tumor A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. url:https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor url:https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors A botryoid rhabdomyosarcoma that presents in childhood. NCI:C35574 UMLS_CUI:C1332944 childhood sarcoma Botryoides disease_ontology DOID:6786 childhood botryoid rhabdomyosarcoma A botryoid rhabdomyosarcoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/8088765 A vagina botryoid rhabdomyosarcoma that presents in childhood. NCI:C35556 UMLS_CUI:C1332945 vaginal childhood sarcoma Botryoides disease_ontology DOID:6787 childhood vagina botryoid rhabdomyosarcoma A vagina botryoid rhabdomyosarcoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/27870705 A botryoid rhabdomyosarcoma that is located_in the vagina. NCI:C40268 UMLS_CUI:C1511275 disease_ontology DOID:6788 vagina botryoid rhabdomyosarcoma A botryoid rhabdomyosarcoma that is located_in the vagina. url:https://www.ncbi.nlm.nih.gov/pubmed/15887839 NCI:C36098 UMLS_CUI:C1332946 childhood sarcoma Botryoides of the Vulva disease_ontology DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma A sarcoma of colon that is located_in the colon. NCI:C5516 SNOMEDCT_US_2023_03_01:1156795003 UMLS_CUI:C1333091 Colonic Kaposi's sarcoma disease_ontology DOID:6804 colon Kaposi sarcoma 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 A vaginal adenoma that resembles the colorectal tubular adenoma. disease_ontology DOID:6809 retired NCI concept. obsolete vaginal tubular adenoma true A vaginal adenoma that resembles the colorectal tubular adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 GARD:10928 ICD10CM:G12.22 ICD9CM:335.22 MESH:D010244 NCI:C85026 SNOMEDCT_US_2023_03_01:54304004 UMLS_CUI:C0030442 disease_ontology DOID:681 progressive bulbar palsy A pilocytic astrocytoma that occurs during adolescence. MESH:D001254 NCI:C27081 UMLS_CUI:C0280783 disease_ontology DOID:6811 juvenile pilocytic astrocytoma A pilocytic astrocytoma that occurs during adolescence. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081 A pilocytic astrocytoma that occurs during childhood. NCI:C4048 UMLS_CUI:C1332995 pediatric Pilocytic astrocytoma disease_ontology DOID:6812 childhood pilocytic astrocytoma A pilocytic astrocytoma that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048 GARD:6141 ICD10CM:T79.A0 ICD9CM:958.90 MESH:D003161 NCI:C118422 SNOMEDCT_US_2023_03_01:212379008 UMLS_CUI:C0009492 Compartmental syndrome disease_ontology DOID:682 compartment syndrome GARD:4210 ICDO:8971/3 MESH:C537162 NCI:C4265 SNOMEDCT_US_2023_03_01:53618008 UMLS_CUI:C0334489 disease_ontology DOID:6823 pancreatoblastoma A pancreatic carcinoma that is characterized by its papillary architecture. NCI:C5728 SNOMEDCT_US_2023_03_01:782697005 UMLS_CUI:C1336029 disease_ontology DOID:6827 pancreatic solid pseudopapillary carcinoma A pancreatic carcinoma that is characterized by its papillary architecture. url:http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour url:https://www.ncbi.nlm.nih.gov/pubmed/19268906 MESH:D009443 NCI:C3500 SNOMEDCT_US_2023_03_01:95663000 UMLS_CUI:C0235025 peripheral motor neuropathy disease_ontology DOID:683 motor neuritis A rete ovarii benign neoplasm that derives_from glandular epithelial cells. NCI:C40018 SNOMEDCT_US_2023_03_01:703654008 UMLS_CUI:C1514905 disease_ontology DOID:6837 rete ovarii adenoma A rete ovarii benign neoplasm that derives_from glandular epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/9416702 A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. NCI:C40020 UMLS_CUI:C1514906 disease_ontology DOID:6838 rete ovarii cystadenofibroma A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. url:https://www.ncbi.nlm.nih.gov/pubmed/21139896 An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. NCI:C27942 UMLS_CUI:C1334631 Intraductal Proliferative Lesion disease_ontology DOID:6839 breast intraductal proliferative lesion An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. url:https://www.hindawi.com/journals/ijso/2012/501904/ A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. DOID:5005 EFO:0000182 ICD10CM:C22.0 ICDO:8170/3 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 SNOMEDCT_US_2023_03_01:154469006 UMLS_CUI:C2239176 Hepatoma disease_ontology DOID:684 OMIM mapping confirmed by DO. [SN]. hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. url:http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma url:http://en.wikipedia.org/wiki/Hepatocellular_carcinoma url:http://www.omim.org/entry/114550 A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. NCI:C36086 SNOMEDCT_US_2023_03_01:860895001 UMLS_CUI:C1333620 disease_ontology DOID:6841 flat ductal epithelial atypia A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/ NCI:C6186 UMLS_CUI:C1335752 sarcomatoid transitional cell carcinoma of renal Pelvis disease_ontology DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma NCI:C39879 UMLS_CUI:C1512750 disease_ontology DOID:6845 infiltrating ureter transitional cell carcinoma NCI:C8498 UMLS_CUI:C1512419 disease_ontology DOID:6846 familial melanoma A botryoid rhabdomyosarcoma that is present in an adult. NCI:C36099 UMLS_CUI:C1332185 disease_ontology DOID:6847 adult botryoid rhabdomyosarcoma A botryoid rhabdomyosarcoma that is present in an adult. url:https://www.ncbi.nlm.nih.gov/pubmed/17955586 A vagina botryoid rhabdomyosarcoma that presents in adulthood. NCI:C40267 UMLS_CUI:C1515893 disease_ontology DOID:6848 adult vagina botryoid rhabdomyosarcoma A vagina botryoid rhabdomyosarcoma that presents in adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/2190875 NCI:C5309 UMLS_CUI:C1333475 primary Ectopic meningioma of ethmoidal sinus disease_ontology DOID:6854 ethmoid sinus ectopic meningioma NCI:C6753 UMLS_CUI:C1335419 teratoma of Pineal Area disease_ontology DOID:6856 pineal region teratoma A mature teratoma that is located_in the pineal region. NCI:C6754 UMLS_CUI:C1335417 Mature teratoma of the Pineal Area disease_ontology DOID:6857 pineal region mature teratoma A mature teratoma that is located_in the pineal region. url:https://www.ncbi.nlm.nih.gov/pubmed/28236067 NCI:C6755 UMLS_CUI:C1335416 Atypical Pineal teratoma disease_ontology DOID:6858 pineal region immature teratoma A liver cancer that has_material_basis_in epithelial cells. NCI:C7927 UMLS_CUI:C0279000 Liver and Intrahepatic bile duct carcinoma disease_ontology DOID:686 liver carcinoma 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 An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. NCI:C27849 UMLS_CUI:C1518768 disease_ontology DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. url:https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type NCI:C37870 UMLS_CUI:C1334657 disease_ontology DOID:6867 mediastinal gray zone lymphoma NCI:C6633 UMLS_CUI:C1334665 Lymphoma of mediastinum disease_ontology DOID:6868 mediastinal malignant lymphoma MESH:D008579 NCI:C4960 UMLS_CUI:C0751304 disease_ontology DOID:6869 parasagittal meningioma GARD:2657 ICD10CM:C22.2 ICDO:8970/3 MESH:D018197 NCI:C3728 SNOMEDCT_US_2023_03_01:109843000 UMLS_CUI:C0206624 disease_ontology DOID:687 hepatoblastoma NCI:C5155 UMLS_CUI:C1336046 neuroblastoma of the Spinal Cord disease_ontology DOID:6871 spinal cord neuroblastoma NCI:C5406 UMLS_CUI:C1336048 Spinal Cord PNET disease_ontology DOID:6872 spinal cord primitive neuroectodermal neoplasm A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. NCI:C3374 SNOMEDCT_US_2023_03_01:156440000 UMLS_CUI:C0037293 Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma disease_ontology DOID:6873 skin tag A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. url:https://en.wikipedia.org/wiki/Skin_tag A germ cell cancer that is associated with an embryo. MESH:D009373 NCI:C3264 UMLS_CUI:C0027654 embryo neoplasm embryonal neoplasm disease_ontology DOID:688 embryonal cancer A germ cell cancer that is associated with an embryo. url:http://www.cancer.gov/dictionary/?CdrID=44250 A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. NCI:C5336 UMLS_CUI:C1335994 Fibrosarcoma, small Intestine disease_ontology DOID:6880 small bowel fibrosarcoma A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. url:http://en.wikipedia.org/wiki/Fibrosarcoma NCI:C6176 UMLS_CUI:C1336878 ureteral small cell carcinoma disease_ontology DOID:6886 ureter small cell carcinoma NCI:C4830 SNOMEDCT_US_2023_03_01:300988009 UMLS_CUI:C0577692 transitional cell carcinoma of ureter ureteral Urothelial cell carcinoma disease_ontology DOID:6888 ureter transitional cell carcinoma An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. DOID:6899 NCI:C40090 UMLS_CUI:C0279392 mixed epithelial carcinoma of Ovary ovary mixed epithelial carcinoma disease_ontology DOID:6898 ovarian seromucinous carcinoma An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. url:https://www.ncbi.nlm.nih.gov/pubmed/24643255 NCI:C36102 UMLS_CUI:C1333992 disease_ontology DOID:6901 familiar ovarian carcinoma A lymphoma by site that is manifested in immune system cells called lymphocytes. NCI:C35690 SNOMEDCT_US_2023_03_01:312939009 UMLS_CUI:C0730306 malignant lymphoma of eye disease_ontology DOID:6903 eye lymphoma 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 A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. ICDO:8711/1 NCI:C27496 SNOMEDCT_US_2023_03_01:703603008 UMLS_CUI:C1333824 disease_ontology DOID:6906 glomangiomatosis A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. url:https://www.ncbi.nlm.nih.gov/pubmed/28656356 NCI:C6887 SNOMEDCT_US_2023_03_01:128711009 UMLS_CUI:C1266094 Lymphocyte-Predominant Thymoma Thymoma, organoid disease_ontology DOID:6917 predominantly cortical thymoma ICD10CM:G57.3 MESH:D020427 NCI:C27061 SNOMEDCT_US_2023_03_01:34553007 UMLS_CUI:C0270810 Peroneal nerve palsy disease_ontology DOID:6925 peroneal nerve paralysis MESH:D003744 NCI:C34529 SNOMEDCT_US_2023_03_01:196277000 UMLS_CUI:C0011351 enamel hypoplasia disease_ontology DOID:693 dental enamel hypoplasia NCI:C39859 SNOMEDCT_US_2023_03_01:447765004 UMLS_CUI:C1511190 disease_ontology DOID:6932 urinary bladder inverted papilloma DOID:2141 NCI:C3842 NCI:C39858 SNOMEDCT_US_2023_03_01:189459005 SNOMEDCT_US_2023_03_01:45083001 UMLS_CUI:C0235754 UMLS_CUI:C1384678 Urothelial papilloma bladder papilloma transitional cell papilloma of bladder urinary bladder Urothelial papilloma disease_ontology DOID:6933 bladder transitional cell papilloma NCI:C6173 UMLS_CUI:C1336887 Inverted papilloma of the urethra disease_ontology DOID:6934 urethra inverted papilloma NCI:C6174 UMLS_CUI:C1336874 ureteral Inverted papilloma disease_ontology DOID:6935 ureter inverted papilloma NCI:C6160 UMLS_CUI:C1519823 disease_ontology DOID:6936 ureter urothelial papilloma An intraocular retinoblastoma that effects children. NCI:C9047 UMLS_CUI:C1321869 pediatric intraocular retinoblastoma disease_ontology DOID:6938 childhood intraocular retinoblastoma An intraocular retinoblastoma that effects children. url:https://www.ncbi.nlm.nih.gov/pubmed/29737052 A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. NCI:C6253 UMLS_CUI:C1332949 pediatric meningioma of brain disease_ontology DOID:6939 childhood brain meningioma A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. url:https://en.wikipedia.org/wiki/Meningioma url:https://www.ncbi.nlm.nih.gov/pubmed/15886506 An inverted follicular keratosis that is located_in the vulva. NCI:C40291 UMLS_CUI:C1520084 disease_ontology DOID:6943 vulvar inverted follicular keratosis An inverted follicular keratosis that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/11109167 NCI:C6375 UMLS_CUI:C1336981 Seborrheic Keratosis of Vulva disease_ontology DOID:6944 vulvar seborrheic keratosis NCI:C9007 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C0334019 Inverted folicular keratosis disease_ontology DOID:6945 inverted follicular keratosis NCI:C6792 SNOMEDCT_US_2023_03_01:126679002 UMLS_CUI:C0345676 neoplasm of sphenoidal sinus tumor of Sphenoidal sinus disease_ontology DOID:6947 sphenoidal sinus benign neoplasm A malignant teratoma that has_material_basis_in gastric tissue. NCI:C5256 UMLS_CUI:C1334151 malignant teratoma of stomach disease_ontology DOID:6948 malignant gastric teratoma A malignant teratoma that has_material_basis_in gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/2067992 NCI:C3902 SNOMEDCT_US_2023_03_01:78453009 UMLS_CUI:C0259782 Telangiectatic osteosarcoma disease_ontology DOID:6951 telangiectatic osteogenic sarcoma An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. NCI:C5630 UMLS_CUI:C1332232 disease_ontology DOID:6958 aleukemic monocytic leukemia cutis An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630 NCI:C5555 UMLS_CUI:C1333074 transitional Zone carcinoma of rectum disease_ontology DOID:6959 rectal cloacogenic carcinoma A Bartholin's gland carcinoma that derives_from squamous epithelial cells. NCI:C40293 UMLS_CUI:C1511052 Bartholin gland squamous cell carcinoma disease_ontology DOID:6961 Bartholin's gland squamous cell carcinoma A Bartholin's gland carcinoma that derives_from squamous epithelial cells. url:https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/22369423 NCI:C7383 UMLS_CUI:C1518882 disease_ontology urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma NCI:C27202 UMLS_CUI:C1517579 disease_ontology DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma MESH:D003969 NCI:C3488 SNOMEDCT_US_2023_03_01:70091000 UMLS_CUI:C0086768 Excessive vasoactive intestinal peptide secretion Verner-Morrison syndrome pancreatic WDHA syndrome disease_ontology DOID:6977 pancreatic cholera MESH:D003807 NCI:C50778 SNOMEDCT_US_2023_03_01:13468005 UMLS_CUI:C0011432 Sensitive dentin disease_ontology DOID:698 dentin sensitivity NCI:C27473 UMLS_CUI:C1333306 disease_ontology DOID:6988 peripheral epithelioid sarcoma A myopathy that is characterized by mitochondrial dysfunction. MESH:D017240 NCI:C101328 OMIM:251900 SNOMEDCT_US_2023_03_01:240096000 UMLS_CUI:C0162670 mitochondrial cytopathy disease_ontology DOID:699 OMIM mapping confirmed by DO. [SN]. mitochondrial myopathy 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 NCI:C7989 UMLS_CUI:C0279693 mixed cell type Uveal melanoma disease_ontology DOID:6992 intraocular mixed cell type melanoma NCI:C6101 UMLS_CUI:C1334210 disease_ontology DOID:6993 iris mixed cell melanoma NCI:C9088 SNOMEDCT_US_2023_03_01:255012009 UMLS_CUI:C0346373 malignant melanoma of iris melanoma of the Iris disease_ontology DOID:6994 malignant iris melanoma NCI:C6100 UMLS_CUI:C1334208 mixed cell melanoma of Choroid disease_ontology DOID:6996 intermediate cell type choroid melanoma NCI:C6118 UMLS_CUI:C1334209 disease_ontology DOID:6997 intermediate cell type ciliary body melanoma NCI:C5744 UMLS_CUI:C1333750 Colloidal carcinoma of the gallbladder disease_ontology DOID:6998 gallbladder mucinous carcinoma A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. GARD:12867 MESH:D049913 NCI:C7462 OMIM:219090 SNOMEDCT_US_2023_03_01:254958004 UMLS_CUI:C1306214 ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma disease_ontology DOID:7004 OMIM mapping confirmed by DO. [SN]. ACTH-secreting pituitary adenoma MESH:D049913 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 ICDO:9411/3 MESH:D001254 NCI:C4321 SNOMEDCT_US_2023_03_01:73982001 UMLS_CUI:C0334581 Gemistocytic Astrocytic tumor disease_ontology DOID:7005 gemistocytic astrocytoma MESH:D001254 NCI:C4347 UMLS_CUI:C0338070 pediatric astrocytoma of Cerebrum disease_ontology DOID:7007 childhood cerebral astrocytoma ICDO:9410/3 MESH:D001254 NCI:C4320 SNOMEDCT_US_2023_03_01:55094006 UMLS_CUI:C0334580 Protoplasmic Astrocytic tumor disease_ontology DOID:7008 protoplasmic astrocytoma An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. NCI:C40041 UMLS_CUI:C1518725 disease_ontology DOID:7013 ovarian mucinous cystadenofibroma An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/24772358 NCI:C7450 SNOMEDCT_US_2023_03_01:24045002 UMLS_CUI:C0334473 intramuscular lipoma disease_ontology DOID:7014 infiltrating lipoma A synovium neoplasm that is located_in the tendon sheath. NCI:C6499 UMLS_CUI:C1336703 Lipoma of the Tendon Sheath disease_ontology DOID:7016 tendon sheath lipoma A synovium neoplasm that is located_in the tendon sheath. url:https://www.ncbi.nlm.nih.gov/pubmed/26665243 NCI:C6500 UMLS_CUI:C1334438 disease_ontology DOID:7017 lumbosacral lipoma NCI:C41618 UMLS_CUI:C1513718 disease_ontology DOID:7024 mucinous intrahepatic cholangiocarcinoma NCI:C5664 SNOMEDCT_US_2023_03_01:838297005 UMLS_CUI:C1332640 adenoma of the Bronchial Mucus gland disease_ontology adenoma of bronchial mucus gland DOID:7030 bronchial mucus gland adenoma A squamous cell carcinoma that is located_in the glottis. NCI:C8186 UMLS_CUI:C0280325 Epidermoid carcinoma of the Glottis disease_ontology squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma A squamous cell carcinoma that is located_in the glottis. url:https://www.ncbi.nlm.nih.gov/pubmed/24760498 A clear cell adenocarcinoma that is located_in the bile duct. NCI:C5775 UMLS_CUI:C0861855 bile duct clear cell carcinoma disease_ontology DOID:7032 bile duct clear cell adenocarcinoma A clear cell adenocarcinoma that is located_in the bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/19144165 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. GARD:693 ICD10CM:B81.0 ICD9CM:127.1 MESH:D017129 NCI:C128393 SNOMEDCT_US_2023_03_01:442652006 UMLS_CUI:C0162576 Infection by Anisakis larva disease_ontology DOID:7033 anisakiasis MESH:D017129 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 An immature teratoma of overy that presents in childhood. NCI:C6547 UMLS_CUI:C1332990 pediatric Immature teratoma of Ovary disease_ontology DOID:7037 childhood immature teratoma of ovary An immature teratoma of overy that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/3983017 NCI:C35780 UMLS_CUI:C1333422 disease_ontology DOID:7040 uveal epithelioid cell melanoma NCI:C6102 UMLS_CUI:C1333024 Choroidal epithelioid cell melanoma disease_ontology DOID:7041 choroid epithelioid cell melanoma NCI:C6119 UMLS_CUI:C1333050 disease_ontology DOID:7042 ciliary body epithelioid cell melanoma NCI:C7266 UMLS_CUI:C1332463 disease_ontology DOID:7045 basaloid lung carcinoma A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. NCI:C40189 UMLS_CUI:C1511063 disease_ontology DOID:7046 cervical basaloid squamous cell carcinoma A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/30695899 url:https://www.ncbi.nlm.nih.gov/pubmed/31393622 NCI:C6980 UMLS_CUI:C1332462 squamous cell carcinoma of penis, Basaloid type disease_ontology DOID:7047 penis basaloid carcinoma A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. NCI:C40286 vulvar basaloid carcinoma disease_ontology DOID:7048 vulvar basaloid squamous cell carcinoma A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. url:https://www.hindawi.com/journals/jsc/2011/951250/ NCI:C27543 UMLS_CUI:C1335973 skin Basaloid squamous cell carcinoma disease_ontology DOID:7049 basaloid squamous cell skin carcinoma GARD:6870 ICD10CM:H47.22 MESH:D029242 NCI:C84808 OMIM:535000 SNOMEDCT_US_2023_03_01:194045006 UMLS_CUI:C0917796 Leber's hereditary optic neuropathy Leber's optic atrophy disease_ontology DOID:705 OMIM mapping confirmed by DO. [SN]. Leber hereditary optic neuropathy NCI:C6456 UMLS_CUI:C1332464 Basaloid carcinoma of the Thymus disease_ontology DOID:7050 thymus basaloid carcinoma NCI:C7032 UMLS_CUI:C1333443 Basaloid squamous carcinoma of esophagus disease_ontology DOID:7051 esophageal basaloid squamous cell carcinoma NCI:C5279 UMLS_CUI:C1334829 disease_ontology DOID:7054 multiple skull base meningioma EFO:0000096 NCI:C27910 UMLS_CUI:C1334633 mature B-cell lymphocytic neoplasm disease_ontology DOID:706 mature B-cell neoplasm A non-Hodgkin lymphoma that has_material_basis_in B cells. GARD:5877 MESH:D016393 NCI:C3457 SNOMEDCT_US_2023_03_01:109979007 UMLS_CUI:C0079731 B-cell lymphocytic neoplasm disease_ontology DOID:707 B-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. url:http://en.wikipedia.org/wiki/B-cell_lymphoma A dermoid cyst that is located_in the spinal cord. NCI:C6808 SNOMEDCT_US_2023_03_01:830015009 UMLS_CUI:C1333278 Spinal Cord Dermoid disease_ontology DOID:7071 spinal cord dermoid cyst A dermoid cyst that is located_in the spinal cord. url:https://www.ncbi.nlm.nih.gov/pubmed/23772254 A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. ICDO:8314/3 NCI:C40365 UMLS_CUI:C1517894 lipid-rich breast carcinoma disease_ontology DOID:7076 breast lipid-rich carcinoma A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365 NCI:C6630 UMLS_CUI:C1334600 mediastinal melanocytic MPNST disease_ontology DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum A cystic teratoma that is present in an adult. NCI:C9012 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368888 disease_ontology DOID:7079 adult cystic teratoma A cystic teratoma that is present in an adult. url:https://www.ncbi.nlm.nih.gov/pubmed/27038684 DOID:7080 NCI:C9423 UMLS_CUI:C1334788 combined small and large cell lung cancer small cell and large cell carcinoma of the lung small cell and squamous cell carcinoma of the lung disease_ontology mixed small cell and squamous cell carcinoma of lung DOID:7081 lung mixed small cell and squamous cell carcinoma NCI:C37304 UMLS_CUI:C1334817 disease_ontology DOID:7086 multicentric papillary thyroid carcinoma NCI:C35830 UMLS_CUI:C1333120 disease_ontology DOID:7088 columnar cell variant papillary carcinoma NCI:C35558 UMLS_CUI:C1336695 disease_ontology DOID:7089 tall cell variant papillary carcinoma DOID:10265 ICD9CM:202.47 NCI:C7301 SNOMEDCT_US_2023_03_01:93151007 UMLS_CUI:C0153832 UMLS_CUI:C1336064 hairy cell leukaemia of spleen hairy cell leukemia of spleen splenic manifestation of hairy cell leukaemia disease_ontology DOID:709 splenic manifestation of hairy cell leukemia NCI:C8095 UMLS_CUI:C0279989 pediatric epithelioid sarcoma disease_ontology DOID:7095 childhood epithelioid sarcoma NCI:C39924 UMLS_CUI:C1515307 disease_ontology DOID:7097 macrocystic pattern testicular yolk sac tumor A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. NCI:C7296 UMLS_CUI:C1336065 disease_ontology splenic leukemia DOID:710 splenic manifestation of leukemia A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/ NCI:C5283 UMLS_CUI:C1333283 meningioma of Diaphragm Sellae disease_ontology DOID:7103 diaphragma sellae meningioma NCI:C4933 SNOMEDCT_US_2023_03_01:126699008 UMLS_CUI:C1290353 Epiglottic tumor neoplasm of epiglottis disease_ontology DOID:7105 epiglottis neoplasm A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. ICD10CM:C91.42 NCI:C142882 UMLS_CUI:C0279780 disease_ontology DOID:711 refractory hairy cell leukemia 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 A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. NCI:C27357 UMLS_CUI:C1335724 disease_ontology DOID:712 refractory hematologic cancer 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 ICD10CM:N30.4 ICD9CM:595.82 NCI:C123174 SNOMEDCT_US_2023_03_01:11251000 UMLS_CUI:C0156270 Irradiation cystitis disease_ontology DOID:7127 radiation cystitis NCI:C7401 SNOMEDCT_US_2023_03_01:54087003 UMLS_CUI:C0349633 Hairy cell leukaemia variant Hairy cell leukemia variant disease_ontology DOID:713 HCL-V NCI:C9461 SNOMEDCT_US_2023_03_01:718604008 UMLS_CUI:C1332564 small cell/neuroendocrine carcinoma of urinary bladder disease_ontology small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma NCI:C6763 UMLS_CUI:C1333759 Oat cell carcinoma of the gallbladder disease_ontology DOID:7133 gallbladder small cell carcinoma NCI:C6762 UMLS_CUI:C1112474 Oat cell carcinoma of esophagus Oat cell carcinoma of oesophagus oesophagus small cell carcinoma disease_ontology DOID:7134 esophagus small cell carcinoma NCI:C6655 UMLS_CUI:C1332250 ampullary small cell carcinoma disease_ontology DOID:7136 ampulla of Vater small cell carcinoma A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. ICD9CM:595.81 NCI:C96230 SNOMEDCT_US_2023_03_01:13285005 UMLS_CUI:C0152262 disease_ontology DOID:7138 cystitis cystica A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. url:https://www.ncbi.nlm.nih.gov/pubmed/28466074 url:https://www.ncbi.nlm.nih.gov/pubmed/29552345 An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. NCI:C40155 UMLS_CUI:C1516858 disease_ontology DOID:7139 endometrial small cell carcinoma An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/24615329 A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. NCI:C40298 UMLS_CUI:C1511051 Bartholin gland small cell carcinoma disease_ontology DOID:7140 Bartholin's gland small cell carcinoma A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. url:https://en.wikipedia.org/wiki/Adenocarcinoma NCI:C6460 UMLS_CUI:C1335980 small cell carcinoma of the Thymus disease_ontology DOID:7142 thymus small cell carcinoma NCI:C6025 UMLS_CUI:C1334378 small cell carcinoma of Larynx disease_ontology DOID:7144 laryngeal small cell carcinoma 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. GARD:10491 ICD10CM:C96.4 ICDO:9756/3 MESH:D054752 NCI:C6921 ORDO:86897 SNOMEDCT_US_2023_03_01:724649000 UMLS_CUI:C1260327 disease_ontology DOID:7146 Langerhans cell sarcoma MESH:D054752 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:https://pubmed.ncbi.nlm.nih.gov/25805533/ 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. EFO:0003898 GARD:9518 ICD10CM:M45 ICD9CM:720.0 MESH:D013167 NCI:C84564 OMIM:PS106300 ORDO:825 SNOMEDCT_US_2023_03_01:156619005 UMLS_CUI:C0038013 Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease disease_ontology DOID:7147 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. 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 ls:IEDB An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 NCI:C2884 OMIM:180300 SNOMEDCT_US_2023_03_01:156471009 UMLS_CUI:C0003873 Arthritis or polyarthritis, rheumatic atrophic Arthritis disease_ontology DOID:7148 OMIM mapping confirmed by DO. [SN]. rheumatoid 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.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388 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 A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. NCI:C5524 UMLS_CUI:C1335521 Stromal sarcoma of the prostate disease_ontology DOID:7152 prostate stromal sarcoma A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. url:http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). NCI:C4326 disease_ontology DOID:7154 anaplastic oligodendroglioma An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). url:https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma url:https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. NCI:C5552 UMLS_CUI:C1335682 leiomyoma of rectum rectum leiomyoma disease_ontology DOID:7160 rectal leiomyoma A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. url:https://pubmed.ncbi.nlm.nih.gov/29657702 ICD10CM:E06.1 ICD9CM:245.1 MESH:D013968 NCI:C35071 SNOMEDCT_US_2023_03_01:154666006 UMLS_CUI:C0040149 De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis disease_ontology DOID:7165 subacute thyroiditis ICD10CM:E06 ICD9CM:245 MESH:D013966 NCI:C26894 SNOMEDCT_US_2023_03_01:154664009 UMLS_CUI:C0040147 disease_ontology DOID:7166 Updating to more specific UMLS_CUI from C0029495 to C0040147. thyroiditis NCI:C6699 UMLS_CUI:C1335096 Occult adenocarcinoma of the lung disease_ontology occult adenocarcinoma of lung DOID:7168 lung occult adenocarcinoma NCI:C6685 UMLS_CUI:C1335095 Occult large cell carcinoma of the lung disease_ontology DOID:7169 lung occult large cell carcinoma ICDO:8124/3 NCI:C8255 SNOMEDCT_US_2023_03_01:84570003 UMLS_CUI:C0334273 Cloacogenic anal carcinoma disease_ontology DOID:7173 OMIM mapping confirmed by DO. [SN]. cloacogenic carcinoma NCI:C8256 UMLS_CUI:C0280470 anal Basaloid carcinoma disease_ontology basaloid carcinoma of the anus DOID:7174 anus basaloid carcinoma NCI:C7470 UMLS_CUI:C1332278 anal Giant (malignant) Condyloma disease_ontology DOID:7175 anal Buschke-Lowenstein tumor An anal canal cancer that derives_from epithelial squamous cells. NCI:C7469 UMLS_CUI:C1332262 disease_ontology DOID:7177 anal canal squamous cell carcinoma An anal canal cancer that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma NCI:C4148 SNOMEDCT_US_2023_03_01:48619006 UMLS_CUI:C0334312 mixed acidophil-basophil adenoma disease_ontology DOID:7179 mixed eosinophil-basophil adenoma An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. GARD:5870 ICD9CM:283.0 MESH:D000744 NCI:C34378 OMIM:205700 SNOMEDCT_US_2023_03_01:25121006 UMLS_CUI:C0002880 Autoimmune haemolytic anaemia autoimmune hemolytic anaemia disease_ontology DOID:718 OMIM mapping confirmed by DO. [SN]. autoimmune hemolytic anemia An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. url:http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia sn:IEDB NCI:C5569 UMLS_CUI:C1332490 benign Schwannoma of the skin disease_ontology DOID:7181 benign dermal neurilemmoma NCI:C35829 SNOMEDCT_US_2023_03_01:361126006 UMLS_CUI:C1306804 disease_ontology DOID:7187 subacute lymphocytic thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. DOID:0050435 ICD10CM:E06.3 MESH:D013967 NCI:C38766 SNOMEDCT_US_2023_03_01:190297000 UMLS_CUI:C0920350 Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis disease_ontology DOID:7188 OMIM mapping confirmed by DO. [SN]. 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. url:https://en.wikipedia.org/wiki/Autoimmune_thyroiditis sn:IEDB An ovarian cystadenoma that is characterized by the presence of endometrial tissue. NCI:C40075 UMLS_CUI:C1518713 disease_ontology DOID:7191 ovarian endometrioid cystadenoma An ovarian cystadenoma that is characterized by the presence of endometrial tissue. url:https://pubmed.ncbi.nlm.nih.gov/30725635/ NCI:C36260 SNOMEDCT_US_2023_03_01:764961009 UMLS_CUI:C1333985 disease_ontology DOID:7192 hereditary conventional renal cell carcinoma NCI:C6239 UMLS_CUI:C1334643 adenoid cystic carcinoma of the maxillary sinus disease_ontology adenoid cystic carcinoma of maxillary sinus DOID:7198 maxillary sinus adenoid cystic carcinoma NCI:C35142 SNOMEDCT_US_2023_03_01:300980002 UMLS_CUI:C0085577 ANEMIA NORMOCYTIC disease_ontology DOID:720 normocytic anemia A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. NCI:C4288 SNOMEDCT_US_2023_03_01:21912003 UMLS_CUI:C0334522 Intermediate Immature teratoma malignant teratoma, intermediate disease_ontology DOID:7202 intermediate malignant teratoma A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. url:http://codes.iarc.fr/code/3630 NCI:C9499 UMLS_CUI:C1334691 disease_ontology DOID:7206 melanomatosis NCI:C7267 UMLS_CUI:C1333122 pulmonary Combined large cell neuroendocrine carcinoma disease_ontology combined large cell neuroendocrine carcinoma of lung DOID:7207 lung combined large cell neuroendocrine carcinoma ICDO:9533/0 MESH:D008579 NCI:C4331 SNOMEDCT_US_2023_03_01:38431002 UMLS_CUI:C0334607 disease_ontology DOID:7210 psammomatous meningioma ICDO:9532/0 MESH:D008579 NCI:C4330 SNOMEDCT_US_2023_03_01:511008 UMLS_CUI:C0334606 Fibroblastic meningioma disease_ontology DOID:7211 fibrous meningioma ICDO:9531/0 MESH:D008579 NCI:C4329 SNOMEDCT_US_2023_03_01:68944005 UMLS_CUI:C0334605 Meningotheliomatous meningioma disease_ontology DOID:7212 meningothelial meningioma ICDO:9537/0 MESH:D008579 NCI:C4333 SNOMEDCT_US_2023_03_01:64967004 UMLS_CUI:C0334611 transitional (mixed) meningioma disease_ontology DOID:7213 transitional meningioma NCI:C9080 UMLS_CUI:C0278847 Thymoma malignant Noninvasive disease_ontology DOID:7214 noninvasive malignant thymoma A papillary carcioma that is located_in the gallbladder. NCI:C5743 UMLS_CUI:C5399921 Papillary carcinoma of the gallbladder disease_ontology DOID:7221 gallbladder papillary carcinoma A papillary carcioma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/15974814 A breast fibroadenoma that is larger than 5 cm. NCI:C4273 SNOMEDCT_US_2023_03_01:254846003 UMLS_CUI:C0346157 Giant Fibroadenoma Giant fibroadenoma of breast disease_ontology DOID:7223 breast giant fibroadenoma A breast fibroadenoma that is larger than 5 cm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/ NCI:C37201 UMLS_CUI:C1333037 CLL/SLL with IGVH SHM disease_ontology DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C6208 UMLS_CUI:C1377605 Embryonal carcinoma of paediatric CNS Embryonal carcinoma of pediatric CNS paediatric CNS embryonal cell carcinoma pediatric CNS embryonal cell carcinoma disease_ontology DOID:7231 childhood CNS embryonal cell carcinoma A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq NCI:C7010 UMLS_CUI:C1333377 Embryonal carcinoma of CNS disease_ontology embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5790 UMLS_CUI:C1370503 Embryonal carcinoma of the adult central nervous system disease_ontology DOID:7233 adult central nervous system embryonal carcinoma A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq url:https://www.ncbi.nlm.nih.gov/pubmed/17997317 A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. NCI:C5713 SNOMEDCT_US_2023_03_01:785879009 UMLS_CUI:C2063873 Pancreatic Mucinous Cystadenocarcinoma pancreatic colloid cystadenocarcinoma disease_ontology DOID:7234 mucinous cystadenocarcinoma of pancreas A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. url:https://www.ncbi.nlm.nih.gov/books/NBK448105/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/ NCI:C41247 UMLS_CUI:C1518872 pancreatic mucinous cystic neoplasm disease_ontology DOID:7235 pancreatic mucinous cystadenoma NCI:C41246 UMLS_CUI:C1518870 disease_ontology DOID:7236 pancreatic invasive mucinous cystadenocarcinoma NCI:C41245 SNOMEDCT_US_2023_03_01:128900005 UMLS_CUI:C1266078 disease_ontology DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma ICD9CM:625.6 NCI:C35042 SNOMEDCT_US_2023_03_01:60241006 UMLS_CUI:C0038437 Stress incontinence - female female urinary stress incontinence disease_ontology DOID:724 female stress incontinence An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. NCI:C40165 UMLS_CUI:C1519852 disease_ontology DOID:7241 uterine corpus apoplectic leiomyoma An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. NCI:C40163 UMLS_CUI:C1519845 disease_ontology DOID:7242 uterine corpus cellular leiomyoma An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html url:https://www.ncbi.nlm.nih.gov/pubmed/25490906 NCI:C39844 UMLS_CUI:C1511207 disease_ontology DOID:7244 bladder urachal urothelial carcinoma NCI:C39885 UMLS_CUI:C1515864 lymphoepithelioma-like variant acinar prostate adenocarcinoma disease_ontology DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. NCI:C27144 SNOMEDCT_US_2023_03_01:234541006 UMLS_CUI:C0398695 Selective IgD Immunodeficiency Selective immunoglobulin D deficiency disease_ontology DOID:7263 selective IgD deficiency disease A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144 NCI:C40455 UMLS_CUI:C1512418 disease_ontology DOID:7266 familiar fallopian tube carcinoma NCI:C40957 UMLS_CUI:C1515292 disease_ontology DOID:7269 cribriform variant testicular seminoma MESH:D005887 NCI:C4675 SNOMEDCT_US_2023_03_01:25511009 UMLS_CUI:C0376319 Congenital Epulides disease_ontology DOID:7280 congenital epulis DOID:6722 NCI:C39863 NCI:C7371 UMLS_CUI:C1335352 UMLS_CUI:C1527427 carcinoma of the paraurethral gland paraurethral gland carcinoma disease_ontology DOID:7284 Skene gland carcinoma An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. NCI:C27839 SNOMEDCT_US_2023_03_01:128680006 UMLS_CUI:C1266057 secretory uterine corpus endometrioid adenocarcinoma disease_ontology DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. url:http://www.pathologyoutlines.com/topic/uterussecretory.html An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. NCI:C8717 UMLS_CUI:C1513711 disease_ontology DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. url:https://pubmed.ncbi.nlm.nih.gov/28421274/ An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. NCI:C27376 UMLS_CUI:C1332968 Childhood Extraskeletal Osteosarcoma pediatric extraskeletal Osteosarcoma disease_ontology DOID:7297 childhood extraosseous osteosarcoma An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/18214458/ MESH:D014523 NCI:C3428 SNOMEDCT_US_2023_03_01:126883004 UMLS_CUI:C0041971 neoplasm of urethra neoplasm. urethra disease_ontology DOID:730 urethral benign neoplasm NCI:C39927 UMLS_CUI:C1515303 disease_ontology DOID:7302 endodermal sinus pattern testicular yolk sac tumor A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. GARD:10635 ICDO:9430/3 MESH:D018302 NCI:C4324 SNOMEDCT_US_2023_03_01:48952003 UMLS_CUI:C0334587 disease_ontology DOID:7305 astroblastoma A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. url:https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/ An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. MESH:D014571 NCI:C3431 SNOMEDCT_US_2023_03_01:254913005 UMLS_CUI:C0042076 neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm disease_ontology DOID:731 urinary system benign neoplasm An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system NCI:C40391 UMLS_CUI:C1511283 disease_ontology DOID:7312 breast adenomyoepithelial adenosis NCI:C9368 UMLS_CUI:C1336362 stage IVB urinary bladder carcinoma disease_ontology Jewett-Marshall stage D1 bladder cancer Jewett-Marshall stage D2 bladder cancer DOID:7315 Jewett-Marshall bladder cancer NCI:C27301 SNOMEDCT_US_2023_03_01:60703000 UMLS_CUI:C0270921 disease_ontology DOID:7319 axonal neuropathy A urinary system disease that is located_in the urethra. ICD10CM:N36.9 MESH:D014522 NCI:C26903 SNOMEDCT_US_2023_03_01:4985009 UMLS_CUI:C0041969 urethra disease disease_ontology DOID:732 urethral disease A urinary system disease that is located_in the urethra. url:http://www.nlm.nih.gov/medlineplus/urethraldisorders.html An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. NCI:C40032 UMLS_CUI:C0877572 disease_ontology DOID:7320 ovarian serous cystadenofibroma An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. url:https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma NCI:C27248 UMLS_CUI:C1333162 disease_ontology DOID:7326 cranial pseudosarcomatous fasciitis ICD10CM:M72.4 NCI:C3827 SNOMEDCT_US_2023_03_01:268106003 UMLS_CUI:C0410005 Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis disease_ontology DOID:7327 pseudosarcomatous fibromatosis A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. NCI:C6098 UMLS_CUI:C1334287 disease_ontology DOID:7328 iris spindle cell melanoma 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 NCI:C7415 UMLS_CUI:C1336892 Nephrogenic adenoma of the urinary bladder disease_ontology DOID:7333 nephrogenic adenoma of urinary bladder NCI:C97097 SNOMEDCT_US_2023_03_01:78236000 UMLS_CUI:C0334039 disease_ontology DOID:7334 nephrogenic adenoma An urinary tract cancer that derives_from the tissues of the urethra. DOID:737 GARD:9390 ICD10CM:C68.0 ICD9CM:189.3 MESH:D014523 NCI:C7507 NCI:C9106 SNOMEDCT_US_2023_03_01:363459007 SNOMEDCT_US_2023_03_01:94123008 UMLS_CUI:C0153620 UMLS_CUI:C0700101 malignant tumour of urethra malignant urethral neoplasm urethral Ca disease_ontology cancer of urethra DOID:734 urethra cancer An urinary tract cancer that derives_from the tissues of the urethra. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. NCI:C6550 UMLS_CUI:C1332988 pediatric ovarian dysgerminoma disease_ontology DOID:7340 childhood ovarian dysgerminoma A childhood ovarian germ cell tumor 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 An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. NCI:C40446 UMLS_CUI:C1518743 disease_ontology DOID:7347 ovarian stromal hyperthecosis An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. url:https://en.wikipedia.org/wiki/Hyperthecosis NCI:C27802 UMLS_CUI:C1331541 disease_ontology DOID:7350 thymic dysplasia NCI:C5556 UMLS_CUI:C1335689 sarcomatoid carcinoma of rectum disease_ontology DOID:7356 rectum sarcomatoid carcinoma NCI:C39867 UMLS_CUI:C1518164 disease_ontology DOID:736 male urethral cancer NCI:C39925 UMLS_CUI:C1515312 disease_ontology DOID:7360 solid pattern testicular yolk sac tumor A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. NCI:C40284 disease_ontology DOID:7363 vulvar keratinizing squamous cell carcinoma A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. url:https://www.ncbi.nlm.nih.gov/pubmed/16032717 GARD:6835 MESH:D000082242 NCI:C26867 SNOMEDCT_US_2023_03_01:399894006 UMLS_CUI:C0033838 Kimura's disease disease_ontology DOID:7365 Kimura disease A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. MESH:D000093284 NCI:C27474 SNOMEDCT_US_2023_03_01:425231005 UMLS_CUI:C1336527 Superficial urinary bladder carcinoma disease_ontology DOID:7371 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. url:http://www.malecare.com/new_page_91.htm NCI:C27343 UMLS_CUI:C0948740 disease_ontology DOID:7378 pituitary hypoplasia An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9276 UMLS_CUI:C1334717 disease_ontology DOID:7379 adrenal medulla carcinoma An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C39866 UMLS_CUI:C1517154 disease_ontology DOID:738 female urethral cancer NCI:C4462 SNOMEDCT_US_2023_03_01:254661000 UMLS_CUI:C0345983 Parakeratotic skin papilloma disease_ontology DOID:7380 squamous cell papilloma of skin NCI:C27779 UMLS_CUI:C1334464 disease_ontology DOID:7381 lymphohistiocytoid mesothelioma A leiomyosarcoma that is located_in the pulmonary vein. NCI:C5374 UMLS_CUI:C1335575 leiomyosarcoma of the pulmonary Vein disease_ontology DOID:7388 pulmonary vein leiomyosarcoma A leiomyosarcoma that is located_in the pulmonary vein. url:https://www.ncbi.nlm.nih.gov/pubmed/11107057 A leiomyosarcoma that is located_in the pulmonary artery. NCI:C5373 UMLS_CUI:C1335572 leiomyosarcoma of the pulmonary artery disease_ontology DOID:7389 pulmonary artery leiomyosarcoma A leiomyosarcoma that is located_in the pulmonary artery. url:https://www.ncbi.nlm.nih.gov/pubmed/22214627 A leiomyosarcoma that is located_in the superior vena cava. NCI:C6745 UMLS_CUI:C1336531 leiomyosarcoma of the Superior Vena Cava disease_ontology DOID:7390 superior vena cava leiomyosarcoma A leiomyosarcoma that is located_in the superior vena cava. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/ MESH:D018242 NCI:C4970 UMLS_CUI:C0751675 PNET of Cerebrum disease_ontology DOID:7398 cerebral primitive neuroectodermal tumor A disease of anatomical entity that has_material_basis_in hematopoietic cells. ICD10CM:D75.9 ICD9CM:289.9 MESH:D006402 NCI:C26323 SNOMEDCT_US_2023_03_01:154785002 UMLS_CUI:C0018939 Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease disease_ontology DOID:74 hematopoietic system disease A disease of anatomical entity that has_material_basis_in hematopoietic cells. url:http://en.wikipedia.org/wiki/Hematopathology url:https://www.ncbi.nlm.nih.gov/books/NBK1741/ A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. GARD:3904 MESH:D049932 NCI:C4692 OMIM:251260 ORDO:647 SNOMEDCT_US_2023_03_01:234638009 UMLS_CUI:C0398791 Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome disease_ontology DOID:7400 OMIM mapping confirmed by DO. [SN]. Nijmegen breakage syndrome A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/3277755 url:https://www.ncbi.nlm.nih.gov/pubmed/9042920 NCI:C27447 UMLS_CUI:C3274139 disease_ontology DOID:7401 colonic L-cell glucagon-like peptide producing tumor NCI:C27448 UMLS_CUI:C3274140 disease_ontology DOID:7402 L-cell glucagon-like peptide producing tumor A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. NCI:C128167 UMLS_CUI:C4288007 vulvar keratoacanthoma-like carcinoma disease_ontology DOID:7408 NCI retired concept, vulvar keratoacanthoma-like carcinoma. vulvar keratoacanthoma A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288 url:https://www.ncbi.nlm.nih.gov/pubmed/24719870 A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. NCI:C40285 UMLS_CUI:C1520092 disease_ontology DOID:7409 vulvar non-keratinizing squamous cell carcinoma A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/ An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. NCI:C27288 UMLS_CUI:C1335158 disease_ontology DOID:7411 ovarian endometrioid cystadenofibroma An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/514560 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. GARD:8157 ICD10CM:A22 ICD9CM:022 MESH:D000881 NCI:C84565 SNOMEDCT_US_2023_03_01:154295005 UMLS_CUI:C0003175 disease_ontology DOID:7427 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. url:https://en.wikipedia.org/wiki/Anthrax url:https://medlineplus.gov/ency/article/001325.htm url:https://www.cdc.gov/anthrax/basics/index.html url:https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax NCI:C8712 UMLS_CUI:C0854912 disease_ontology DOID:7428 pineal region germinoma A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. NCI:C6207 UMLS_CUI:C1332948 germinoma of the pediatric brain disease_ontology DOID:7429 childhood brain germinoma A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. url:https://en.wikipedia.org/wiki/Germinoma A physical urticaria induced by stroking of the skin. ICD10CM:L50.3 ICD9CM:708.3 NCI:C111885 OMIM:125635 SNOMEDCT_US_2023_03_01:201263000 UMLS_CUI:C0343065 dermatographic urticaria dermographism disease_ontology DOID:743 dermatographia A physical urticaria induced by stroking of the skin. url:http://en.wikipedia.org/wiki/Dermatographic_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5795 UMLS_CUI:C1377598 childhood germ cell brain tumour germ cell neoplasm of the paediatric brain germ cell neoplasm of the pediatric brain disease_ontology DOID:7430 childhood germ cell brain tumor A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq NCI:C39930 UMLS_CUI:C1515311 disease_ontology DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. NCI:C27850 UMLS_CUI:C1336913 disease_ontology DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. url:https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma A perivascular epithelioid cell tumor that is located_in the uterus. NCI:C40180 UMLS_CUI:C1519862 uterine corpus PEComa disease_ontology DOID:7437 uterus perivascular epithelioid cell tumor A perivascular epithelioid cell tumor that is located_in the uterus. url:http://www.pathologyoutlines.com/topic/uterusPEComa.html url:https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour url:https://www.ncbi.nlm.nih.gov/pubmed/24698426 An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. NCI:C7980 UMLS_CUI:C0279667 disease_ontology DOID:7438 ovarian clear cell cystadenocarcinoma An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/22747504 ICD10CM:H74.4 NCI:C6933 SNOMEDCT_US_2023_03_01:155244001 UMLS_CUI:C0271466 polyp - middle ear polyp of the middle ear disease_ontology DOID:7439 polyp of middle ear NCI:C35602 UMLS_CUI:C1333042 disease_ontology DOID:7441 chronic metabolic polyneuropathy A male reproductive organ benign neoplasm that is located_in the epididymis. NCI:C6382 SNOMEDCT_US_2023_03_01:449052009 UMLS_CUI:C1333415 benign Epididymal epithelial Mesothelioma disease_ontology adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor A male reproductive organ benign neoplasm that is located_in the epididymis. url:https://www.ncbi.nlm.nih.gov/pubmed/19893140 A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. NCI:C40359 UMLS_CUI:C1519485 disease_ontology DOID:7459 acantholytic variant squamous cell breast carcinoma A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/ ICD10CM:D19.9 ICDO:9054/0 MESH:D018254 NCI:C3762 SNOMEDCT_US_2023_03_01:2348006 UMLS_CUI:C0206675 adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma disease_ontology DOID:746 adenomatoid tumor MESH:D018254 A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. NCI:C40358 UMLS_CUI:C1519487 disease_ontology DOID:7460 spindle cell variant squamous cell breast carcinoma A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. url:https://www.ncbi.nlm.nih.gov/pubmed/25822766 A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. NCI:C40357 UMLS_CUI:C1519486 disease_ontology DOID:7461 large cell keratinizing variant squamous cell breast carcinoma A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. url:https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486 NCI:C7959 UMLS_CUI:C0279614 childhood anaplastic Rhabdomyosarcoma disease_ontology DOID:7463 childhood pleomorphic rhabdomyosarcoma A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. NCI:C39591 SNOMEDCT_US_2023_03_01:722955006 UMLS_CUI:C1512709 NK-cell large granular Lymphocyte Lymphocytosis disease_ontology DOID:7465 chronic NK-cell lymphocytosis A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/8624463 A pleural cancer that has_material_basis_in mesothelium cells. ICD10CM:C45.0 MESH:D000086002 NCI:C7376 SNOMEDCT_US_2023_03_01:254645002 UMLS_CUI:C0812413 malignant mesothelioma of pleura disease_ontology DOID:7474 malignant pleural mesothelioma A pleural cancer that has_material_basis_in mesothelium cells. url:http://en.wikipedia.org/wiki/Mesothelioma An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. MESH:D004238 NCI:C26752 SNOMEDCT_US_2023_03_01:155779000 UMLS_CUI:C0012813 disease_ontology DOID:7475 diverticulitis An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. url:https://en.wikipedia.org/wiki/Diverticulitis NCI:C27407 UMLS_CUI:C1333320 duodenal delta cell somatostatin producing tumor disease_ontology DOID:7479 duodenal somatostatinoma ICDO:8014/3 NCI:C6876 SNOMEDCT_US_2023_03_01:128629005 UMLS_CUI:C1265997 large cell lung carcinoma with Rhabdoid Phenotype disease_ontology DOID:7480 large cell carcinoma with rhabdoid phenotype NCI:C5271 UMLS_CUI:C1335396 meningioma of the Petrous Ridge disease_ontology DOID:7482 petrous apex meningioma A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. NCI:C40187 UMLS_CUI:C1517658 disease_ontology DOID:7483 cervical keratinizing squamous cell carcinoma A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. url:https://www.ncbi.nlm.nih.gov/pubmed/11688467 url:https://www.ncbi.nlm.nih.gov/pubmed/31651557 A female urethral cancer located_in the posterior urethra. NCI:C7640 UMLS_CUI:C0279931 Posterior urethral malignant tumor disease_ontology DOID:7488 posterior urethra cancer A female urethral cancer located_in the posterior urethra. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. ICD10CM:M92.52 MESH:D055034 NCI:C34874 SNOMEDCT_US_2023_03_01:72047008 UMLS_CUI:C0029376 Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle disease_ontology DOID:7489 Osgood-Schlatter's disease A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. url:http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease url:http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 url:http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm NCI:C40319 UMLS_CUI:C1520093 disease_ontology DOID:7491 vulvar proximal-type epithelioid sarcoma NCI:C27472 UMLS_CUI:C1335563 disease_ontology DOID:7492 central epithelioid sarcoma A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. NCI:C3861 SNOMEDCT_US_2023_03_01:254939008 UMLS_CUI:C0238029 Ependymal tumor of brain Ependymoma of brain disease_ontology DOID:7497 brain ependymoma A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma DOID:11466 DOID:12635 DOID:13115 ICD10CM:K27 ICD9CM:533 MESH:D010437 NCI:C3318 SNOMEDCT_US_2023_03_01:155701001 UMLS_CUI:C0030920 acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation disease_ontology DOID:750 peptic ulcer disease NCI:C9041 UMLS_CUI:C0278599 pediatric infratentorial ependymoma disease_ontology DOID:7501 childhood infratentorial ependymoma NCI:C9043 UMLS_CUI:C0278650 paediatric Cerebral Ependymoma paediatric Supratentorial Ependymoblastoma paediatric supratentorial ependymoma pediatric Cerebral Ependymoma pediatric Supratentorial Ependymoblastoma pediatric supratentorial ependymoma disease_ontology DOID:7502 childhood supratentorial ependymoma An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. NCI:C5849 UMLS_CUI:C1333510 Papillary adenoma of the extrahepatic bile duct disease_ontology DOID:7503 extrahepatic bile duct papillary adenoma An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/20690568 NCI:C4432 SNOMEDCT_US_2023_03_01:126832004 UMLS_CUI:C0345832 neoplasm of small intestine small intestinal neoplasm disease_ontology DOID:7505 small intestine benign neoplasm NCI:C27452 UMLS_CUI:C3274143 disease_ontology DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. DOID:1634 NCI:C5201 UMLS_CUI:C1334247 Intraductal papillomatosis of the breast breast papillomatosis disease_ontology DOID:7511 breast intraductal papillomatosis A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. url:https://www.ncbi.nlm.nih.gov/pubmed/23640929 MESH:C536741 NCI:C40141 UMLS_CUI:C1520159 disease_ontology DOID:7514 Wolffian adnexal neoplasm NCI:C5298 UMLS_CUI:C1334436 meningioma of Lumbar Spinal canal and Spinal Cord disease_ontology DOID:7515 lumbar spinal canal and spinal cord meningioma A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C27403 UMLS_CUI:C1332956 disease_ontology DOID:7516 childhood central nervous system mixed germ cell tumor A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq ICD10CM:F52.31 ICD9CM:302.73 NCI:C34958 SNOMEDCT_US_2023_03_01:60103007 UMLS_CUI:C0033948 female Orgasmic disorder disease_ontology DOID:7518 inhibited female orgasm A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. NCI:C40388 UMLS_CUI:C1518974 disease_ontology DOID:7520 periductal breast myoepitheliosis A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. url:https://www.ncbi.nlm.nih.gov/pubmed/23533258 A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. NCI:C40385 UMLS_CUI:C1513799 disease_ontology DOID:7521 breast myoepitheliosis A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. url:http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html url:https://www.ncbi.nlm.nih.gov/pubmed/1709559 A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. NCI:C6773 UMLS_CUI:C1332972 childhood infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma disease_ontology DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773 An endometritis that is characterized by onset within the past 1 - 3 days. NCI:C27022 SNOMEDCT_US_2023_03_01:155976002 UMLS_CUI:C0238103 disease_ontology DOID:7528 acute endometritis An endometritis that is characterized by onset within the past 1 - 3 days. url:https://librepathology.org/wiki/Endometritis url:https://www.ncbi.nlm.nih.gov/pubmed/23537790 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. NCI:C5609 SNOMEDCT_US_2023_03_01:128655006 UMLS_CUI:C1266027 adenocarcinoma of anal ducts anal glands adenocarcinoma disease_ontology adenocarcinoma of anal gland DOID:7531 anal gland adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICDO:8060/0 NCI:C9009 SNOMEDCT_US_2023_03_01:82049002 UMLS_CUI:C1378340 disease_ontology DOID:7532 squamous papillomatosis NCI:C9008 disease_ontology DOID:7533 subareolar duct papillomatosis A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. NCI:C40384 UMLS_CUI:C1511307 disease_ontology DOID:7538 breast ductal adenoma A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. url:http://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/25862065 A breast adenoma that occurs during pregnancy. NCI:C9473 SNOMEDCT_US_2023_03_01:128651002 UMLS_CUI:C1266023 Lactating adenoma disease_ontology DOID:7539 pregnancy adenoma A breast adenoma that occurs during pregnancy. url:https://www.ncbi.nlm.nih.gov/pubmed/25835417 A breast adenoma that is characterized by apocine differentiation. NCI:C40383 UMLS_CUI:C1388299 disease_ontology DOID:7540 breast apocrine adenoma A breast adenoma that is characterized by apocine differentiation. url:http://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html url:https://www.ncbi.nlm.nih.gov/pubmed/17936522 A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. NCI:C40364 UMLS_CUI:C1513365 disease_ontology DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/ NCI:C6469 SNOMEDCT_US_2023_03_01:33681003 UMLS_CUI:C0334546 Osteosarcoma Arising in osseous Paget's disease osteosarcoma arising in bone Paget disease disease_ontology DOID:7542 osteosarcoma arising in bone Paget's disease NCI:C6088 SNOMEDCT_US_2023_03_01:403945001 UMLS_CUI:C0334352 Ceruminous adenoma disease_ontology DOID:7549 ceruminoma 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 ICD10CM:A54 ICD9CM:098 MEDDRA:10018604 MESH:D006069 NCI:C92950 SNOMEDCT_US_2023_03_01:186943001 UMLS_CUI:C0018081 chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract disease_ontology DOID:7551 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. url:http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm DOID:7552 DOID:7800 NCI:C39824 UMLS_CUI:C1512743 Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements disease_ontology DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant MESH:D020435 NCI:C27212 UMLS_CUI:C0751942 disease_ontology DOID:7558 glossopharyngeal motor neuropathy NCI:C27953 UMLS_CUI:C1332341 disease_ontology DOID:7559 asymmetric motor neuropathy A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. NCI:C40306 UMLS_CUI:C1520081 disease_ontology DOID:7565 vulvar eccrine porocarcinoma A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/ GARD:7431 MESH:D057090 NCI:C5560 SNOMEDCT_US_2023_03_01:254708001 UMLS_CUI:C1266065 Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma disease_ontology DOID:7566 eccrine porocarcinoma A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. NCI:C40307 UMLS_CUI:C1520076 disease_ontology DOID:7567 vulvar clear cell hidradenocarcinoma A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. url:https://pubmed.ncbi.nlm.nih.gov/8428700/ NCI:C5725 UMLS_CUI:C1335304 Intraductal Papillary-mucinous carcinoma of pancreas disease_ontology DOID:7574 pancreatic intraductal papillary-colloid carcinoma NCI:C37256 UMLS_CUI:C1335303 disease_ontology DOID:7577 pancreatic foamy gland adenocarcinoma A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. NCI:C7362 SNOMEDCT_US_2023_03_01:254839007 UMLS_CUI:C0346151 Infiltrating carcinoma of breast with Fibrotic Stroma scirrhous carcinoma of breast disease_ontology DOID:7578 breast scirrhous carcinoma A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/ A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. GARD:4883 ICD10CM:Q89.3 ICD9CM:759.3 MESH:D012857 NCI:C87121 OMIM:270100 SNOMEDCT_US_2023_03_01:157033002 UMLS_CUI:C0037221 Complete transposition Laterality sequence situs inversus viscerum disease_ontology DOID:758 OMIM mapping confirmed by DO. [LS]. situs inversus A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. url:https://en.wikipedia.org/wiki/Situs_inversus url:https://rarediseases.info.nih.gov/diseases/4883/situs-inversus NCI:C8189 UMLS_CUI:C0280329 Glottic verrucous carcinoma disease_ontology verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma NCI:C8190 UMLS_CUI:C0280330 verrucous carcinoma of Subglottis disease_ontology verrucous carcinoma of the subglottis DOID:7584 subglottis verrucous carcinoma NCI:C8187 UMLS_CUI:C0280326 Epidermoid carcinoma of the Subglottis disease_ontology DOID:7585 subglottis squamous cell carcinoma NCI:C8191 UMLS_CUI:C0280331 verrucous carcinoma of Supraglottis disease_ontology verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma NCI:C4945 UMLS_CUI:C0749163 Epidermoid carcinoma of the Supraglottis disease_ontology DOID:7587 supraglottis squamous cell carcinoma A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. NCI:C40442 UMLS_CUI:C1517538 disease_ontology DOID:7591 gestational ovarian choriocarcinoma A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/ NCI:C27925 UMLS_CUI:C1332337 disease_ontology DOID:7596 asbestos-related lung carcinoma A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. NCI:C40193 UMLS_CUI:C1516418 disease_ontology DOID:7598 cervical lymphoepithelioma-like carcinoma A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. url:https://www.ncbi.nlm.nih.gov/pubmed/28217683 NCI:C7998 UMLS_CUI:C0279706 Lymphoepithelioma-like carcinoma of the Thymus disease_ontology DOID:7599 lymphoepithelioma-like thymic carcinoma A gastrointestinal system disease that is located_in the stomach. MESH:D013272 NCI:C26886 SNOMEDCT_US_2023_03_01:196598004 UMLS_CUI:C0038354 Gastropathy stomach disorder disease_ontology gastric disease DOID:76 stomach disease A gastrointestinal system disease that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_disease NCI:C39821 UMLS_CUI:C1512736 disease_ontology DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. DOID:3378 ICDO:9195/3 NCI:C35870 SNOMEDCT_US_2023_03_01:128770002 UMLS_CUI:C1266166 Intracortical osteosarcoma Medullary Osteosarcoma conventional central osteosarcoma intracortical osteogenic sarcoma disease_ontology DOID:7602 conventional osteosarcoma A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. url:https://radiopaedia.org/articles/osteosarcoma NCI:C4020 SNOMEDCT_US_2023_03_01:12690005 UMLS_CUI:C0279602 Fibroblastic osteosarcoma Fibrosarcomatous Osteogenic sarcoma disease_ontology DOID:7603 fibrosarcomatous osteosarcoma ICDO:8321/0 NCI:C4154 SNOMEDCT_US_2023_03_01:12205003 UMLS_CUI:C0334320 Chief cell adenoma of Parathyroid gland disease_ontology DOID:7607 chief cell adenoma A parathyroid gland benign neoplam that is located_in the parathyroid. MESH:D010282 NCI:C156757 SNOMEDCT_US_2023_03_01:128474007 UMLS_CUI:C0262587 adenoma of the Parathyroid gland disease_ontology adenoma of parathyroid DOID:7608 parathyroid adenoma A parathyroid gland benign neoplam that is located_in the parathyroid. url:https://en.wikipedia.org/wiki/Parathyroid_adenoma NCI:C7993 UMLS_CUI:C0279700 Clear cell adenoma of the Parathyroid disease_ontology DOID:7609 parathyroid transitional clear cell adenoma NCI:C7994 UMLS_CUI:C0279701 mixed cell type adenoma of the Parathyroid gland disease_ontology DOID:7610 mixed cell type adenoma of parathyroid NCI:C27393 UMLS_CUI:C1335351 disease_ontology DOID:7611 parathyroid oncocytic adenoma NCI:C6590 UMLS_CUI:C1332974 disease_ontology DOID:7612 childhood intracortical osteosarcoma NCI:C4334 SNOMEDCT_US_2023_03_01:14494009 UMLS_CUI:C0334612 Meningeal sarcomatosis sarcomatosis of meninges disease_ontology DOID:7613 sarcomatosis of the meninges NCI:C4073 SNOMEDCT_US_2023_03_01:78303004 UMLS_CUI:C0302327 Meningeal sarcoma sarcoma of meninges disease_ontology DOID:7614 meninges sarcoma A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. ICDO:8800/9 NCI:C4243 SNOMEDCT_US_2023_03_01:9395006 UMLS_CUI:C0334451 disease_ontology DOID:7615 sarcomatosis A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. url:https://www.merriam-webster.com/dictionary/sarcomatosis An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. NCI:C8290 UMLS_CUI:C0281330 adult ependymoblastoma disease_ontology DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ 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. NCI:C39864 UMLS_CUI:C1516284 disease_ontology DOID:7632 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. url:http://en.wikipedia.org/wiki/Cowper_gland MESH:D012167 NCI:C34795 SNOMEDCT_US_2023_03_01:193388002 UMLS_CUI:C0024441 Macular hole disease_ontology DOID:7633 macular holes NCI:C6776 UMLS_CUI:C1336535 disease_ontology DOID:7634 suprasellar meningioma NCI:C6779 UMLS_CUI:C1333760 meningioma of Gasserian Ganglion disease_ontology DOID:7635 Gasserian ganglion meningioma NCI:C5614 UMLS_CUI:C1334575 malignant granular cell skin neoplasm malignant granular cell skin tumour malignant granular cell tumor of skin malignant granular cell tumour of skin disease_ontology DOID:7639 malignant granular cell skin tumor NCI:C41617 UMLS_CUI:C1516490 disease_ontology DOID:7642 cholangiolocellular carcinoma NCI:C4460 SNOMEDCT_US_2023_03_01:254654004 UMLS_CUI:C0345979 acantholytic squamous cell carcinoma of skin disease_ontology DOID:7643 acantholytic squamous cell skin carcinoma NCI:C5275 UMLS_CUI:C1334825 Multiple meningiomas of the Spinal canal and Spinal Cord disease_ontology DOID:7646 multiple spinal canal and spinal cord meningioma An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. NCI:C40440 UMLS_CUI:C1518737 disease_ontology DOID:7650 pulmonary type ovarian small cell carcinoma An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. url:https://www.ncbi.nlm.nih.gov/pubmed/23896708 An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. NCI:C40439 UMLS_CUI:C1518736 hypercalcemic type ovarian small cell carcinoma disease_ontology DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/ NCI:C8289 UMLS_CUI:C0281329 adult Infiltrating Astrocytic tumor adult Infiltrating astrocytoma disease_ontology DOID:7656 adult infiltrating astrocytic neoplasm An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. NCI:C40153 disease_ontology DOID:7664 endometrial mixed adenocarcinoma An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. url:http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. NCI:C39991 UMLS_CUI:C1518355 disease_ontology DOID:7665 non-gestational ovarian choriocarcinoma An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. url:https://www.ncbi.nlm.nih.gov/pubmed/20090265 MESH:D009133 NCI:C94834 SNOMEDCT_US_2023_03_01:267693003 UMLS_CUI:C0026846 Amyotrophia Muscle wasting Wasting - muscle disease_ontology DOID:767 muscular atrophy NCI:C39951 UMLS_CUI:C1515282 disease_ontology DOID:7675 testicular fibroma NCI:C39952 UMLS_CUI:C1515299 disease_ontology DOID:7676 testicular thecoma NCI:C6841 UMLS_CUI:C1336037 Inverted papilloma of the Sphenoid sinus disease_ontology DOID:7678 sphenoid sinus inverted papilloma NCI:C6838 UMLS_CUI:C1336038 Schneiderian papilloma of the Sphenoid sinus disease_ontology DOID:7679 sphenoid sinus Schneiderian papilloma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. GARD:7563 ICDO:9510/3 MESH:D012175 NCI:C7541 OMIM:180200 SNOMEDCT_US_2023_03_01:154553002 UMLS_CUI:C0035335 RB RB - Retinoblastoma neuroblastoma of Retina disease_ontology DOID:768 OMIM mapping confirmed by DO. [LS]. retinoblastoma 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 NCI:C6240 SNOMEDCT_US_2023_03_01:1255110007 UMLS_CUI:C1334642 adenocarcinoma of the maxillary sinus disease_ontology adenocarcinoma of maxillary sinus DOID:7684 maxillary sinus adenocarcinoma NCI:C41251 UMLS_CUI:C1518873 disease_ontology DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma NCI:C8312 SNOMEDCT_US_2023_03_01:78303004 UMLS_CUI:C1384416 Leptomeningeal sarcoma sarcoma of Leptomeninges disease_ontology DOID:7689 leptomeninges sarcoma An autonomic nervous system neoplasm that derives_from immature nerve cells. EFO:0000621 GARD:7185 ICDO:9500/3 MESH:D009447 NCI:C3270 ORDO:635 SNOMEDCT_US_2023_03_01:432328008 UMLS_CUI:C0027819 disease_ontology DOID:769 Xref MGI. OMIM mapping confirmed by DO. [SN]. neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells. url:http://www.cancer.gov/cancertopics/types/neuroblastoma An aortic aneurysm that is located_in the abdominal aorta. EFO:0004214 GARD:9181 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 SNOMEDCT_US_2023_03_01:155422008 UMLS_CUI:C0162871 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 disease_ontology DOID:7693 abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm NCI:C39843 UMLS_CUI:C1511204 disease_ontology DOID:7694 bladder urachal adenocarcinoma NCI:C27466 UMLS_CUI:C1335300 pancreatic ACTH hormone producing tumour pancreatic Adrenocorticotropic Hormone Producing tumor pancreatic Adrenocorticotropic Hormone Producing tumour disease_ontology DOID:7697 pancreatic ACTH hormone producing tumor MESH:C536126 NCI:C45837 SNOMEDCT_US_2023_03_01:703816006 UMLS_CUI:C1334977 disease_ontology DOID:7698 non-functioning pancreatic endocrine tumor NCI:C9168 UMLS_CUI:C0279654 Signet Ring cell adenocarcinoma of rectum disease_ontology DOID:7707 rectum signet ring adenocarcinoma NCI:C7476 UMLS_CUI:C1332270 perianal skin Paget disease disease_ontology DOID:7708 perianal skin Paget's disease A malignant neoplasm that derives_from the retina. NCI:C7061 UMLS_CUI:C1335765 disease_ontology DOID:771 retinal cell cancer A malignant neoplasm that derives_from the retina. url:http://www.wrongdiagnosis.com/medical/retinal_cancer.htm NCI:C5284 UMLS_CUI:C1336829 meningioma of the Tuberculum Sellae disease_ontology DOID:7713 tuberculum sellae meningioma NCI:C37214 UMLS_CUI:C1333081 disease_ontology DOID:7717 colloid carcinoma of the pancreas An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. MESH:D004830 NCI:C3022 SNOMEDCT_US_2023_03_01:352818000 UMLS_CUI:C0014549 Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy disease_ontology DOID:7725 JA:Epilepsy Genetics Kiel epilepsy with generalized tonic-clonic seizures An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. url:https://www.ncbi.nlm.nih.gov/pubmed/28276060 url:https://www.ncbi.nlm.nih.gov/pubmed/28842445 ICDO:8551/3 NCI:C5727 SNOMEDCT_US_2023_03_01:128703004 UMLS_CUI:C1266087 pancreatic acinar cell cystadenocarcinoma disease_ontology DOID:7729 acinar cell cystadenocarcinoma NCI:C8090 UMLS_CUI:C0279983 malignant pediatric hemangiopericytoma disease_ontology DOID:7731 childhood malignant hemangiopericytoma NCI:C8094 UMLS_CUI:C0279987 pediatric MPNST disease_ontology DOID:7732 childhood malignant schwannoma NCI:C41619 UMLS_CUI:C1519321 disease_ontology DOID:7733 signet ring cell intrahepatic cholangiocarcinoma NCI:C5718 SNOMEDCT_US_2023_03_01:690751000119102 UMLS_CUI:C1335309 mucinous Cystadenoma of pancreas disease_ontology DOID:7735 pancreatic colloid cystadenoma NCI:C4365 SNOMEDCT_US_2023_03_01:232075002 UMLS_CUI:C0339556 Lymphoma of retina Retinal Lymphoma disease_ontology DOID:774 retina lymphoma An extraocular retinoblastoma that effects children. NCI:C9048 UMLS_CUI:C1321870 pediatric extraocular retinoblastoma disease_ontology DOID:7747 childhood extraocular retinoblastoma An extraocular retinoblastoma that effects children. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 DOID:7746 MESH:D064090 NCI:C9184 UMLS_CUI:C0281658 primary intraocular lymphoma disease_ontology DOID:775 intraocular lymphoma A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. NCI:C9372 UMLS_CUI:C1332186 disease_ontology DOID:7750 adult brain ependymoma A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma A biliary papillomatosis located_in an extrahepatic bile duct. NCI:C7124 UMLS_CUI:C1333511 disease_ontology DOID:7752 extrahepatic biliary papillomatosis A biliary papillomatosis located_in an extrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/21988050/ A childhood leukemia that occurs during the neonatal period. NCI:C3845 UMLS_CUI:C0235813 disease_ontology DOID:7756 neonatal leukemia A childhood leukemia that occurs during the neonatal period. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845 A leukemia that occurs in children. NCI:C4989 UMLS_CUI:C1332977 disease_ontology DOID:7757 childhood leukemia A leukemia that occurs in children. url:http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. NCI:C6566 UMLS_CUI:C1332983 childhood renal Wilms cancer pediatric Multilocular cystic renal tumor disease_ontology benign Multilocular cystic renal tumor DOID:7762 childhood multilocular cystic kidney neoplasm A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. url:http://radiographics.rsna.org/content/15/3/653.abstract NCI:C5973 SNOMEDCT_US_2023_03_01:372105009 UMLS_CUI:C1299240 Supraglottic carcinoma disease_ontology DOID:7763 carcinoma of supraglottis NCI:C5972 SNOMEDCT_US_2023_03_01:372104008 UMLS_CUI:C1299239 Subglottic carcinoma carcinoma of subglottis disease_ontology DOID:7764 subglottis carcinoma 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. ICD10CM:F22 ICD9CM:297.1 MESH:D012563 NCI:C94379 SNOMEDCT_US_2023_03_01:48500005 UMLS_CUI:C0011251 disease_ontology DOID:778 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. url:http://en.wikipedia.org/wiki/Delusional_disorder A breast sarcoma that arises from bone. NCI:C5189 UMLS_CUI:C1335149 Osteogenic sarcoma of breast disease_ontology DOID:7787 breast osteosarcoma A breast sarcoma that arises from bone. url:https://en.wikipedia.org/wiki/Osteosarcoma NCI:C27399 UMLS_CUI:C1332215 disease_ontology DOID:7788 adult spinal cord ependymoma A uterine disease that is located_in the placenta. DOID:1815 DOID:5366 DOID:9219 GARD:7402 ICD10CM:O43 ICD9CM:646.9 MESH:D010922 MESH:D011248 NCI:C26857 NCI:C27619 NCI:C34941 NCI:C35169 SNOMEDCT_US_2023_03_01:125586008 SNOMEDCT_US_2023_03_01:172422001 SNOMEDCT_US_2023_03_01:198881004 UMLS_CUI:C0032045 UMLS_CUI:C0032962 UMLS_CUI:C0151864 UMLS_CUI:C1335423 disease_ontology DOID:780 placenta disease A uterine disease that is located_in the placenta. url:http://en.wikipedia.org/wiki/Placenta_disease NCI:C27183 SNOMEDCT_US_2023_03_01:276829003 UMLS_CUI:C0559185 Glioblastoma multiforme of spinal cord adult Spinal Cord Glioblastoma disease_ontology DOID:7806 adult spinal cord glioblastoma multiforme NCI:C6865 UMLS_CUI:C1333026 necrotic Choroid melanoma disease_ontology DOID:7807 choroid necrotic melanoma An uveal melanoma characterized by the presence of tumor cell necrosis. NCI:C7990 UMLS_CUI:C0279695 disease_ontology DOID:7808 necrotic uveal melanoma An uveal melanoma characterized by the presence of tumor cell necrosis. url:https://www.nature.com/articles/eye2016275 NCI:C8272 UMLS_CUI:C0280792 disease_ontology DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma NCI:C5278 UMLS_CUI:C1335395 disease_ontology DOID:7818 petroclival meningioma NCI:C5285 UMLS_CUI:C1336040 disease_ontology DOID:7819 sphenoorbital meningioma NCI:C5313 UMLS_CUI:C1336036 disease_ontology DOID:7820 sphenocavernous meningioma NCI:C5287 UMLS_CUI:C1336051 Multifocal Clear cell meningioma of Spine disease_ontology DOID:7824 spinal multifocal clear cell meningioma NCI:C35603 UMLS_CUI:C1333048 disease_ontology DOID:7825 chronic toxic polyneuropathy NCI:C8293 UMLS_CUI:C0281334 disease_ontology DOID:7826 adult papillary meningioma An 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. NCI:C7925 UMLS_CUI:C0278985 disease_ontology DOID:7827 adult extraosseous osteosarcoma An 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:https://pubmed.ncbi.nlm.nih.gov/11786582/ A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. NCI:C40363 SNOMEDCT_US_2023_03_01:703552001 UMLS_CUI:C3839745 disease_ontology DOID:7839 infiltrating nipple syringomatous adenoma A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. url:https://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html A kidney failure that is characterized by the gradual loss of kidney function. ICD10CM:N18.9 ICD9CM:585.6 MESH:D007676 NCI:C9438 SNOMEDCT_US_2023_03_01:155856009 UMLS_CUI:C0022661 CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic disease_ontology DOID:784 chronic kidney disease A kidney failure that is characterized by the gradual loss of kidney function. url:https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521 url:https://www.ncbi.nlm.nih.gov/books/NBK499861/ NCI:C28333 UMLS_CUI:C1335311 disease_ontology DOID:7840 pancreatic non-functioning delta cell tumor An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. NCI:C115203 childhood cerebral ependymoblastoma pediatric cerebral ependymoblastoma disease_ontology DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203 A breast carcinoma that is manifested in the female breast. NCI:C2918 UMLS_CUI:C0007104 Mammary carcinoma of female breast disease_ontology carcinoma of female breast DOID:7843 female breast carcinoma A breast carcinoma that is manifested in the female breast. url:http://en.wikipedia.org/wiki/Breast_cancer A histiocytic and dendritic cell cancer that effect dendritic cells. ICD10CM:C96.4 ICDO:9757/3 MESH:D054739 NCI:C9282 SNOMEDCT_US_2023_03_01:715664005 UMLS_CUI:C1260326 Interdigitating cell sarcoma disease_ontology DOID:7848 interdigitating dendritic cell sarcoma A histiocytic and dendritic cell cancer that effect dendritic cells. url:http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. ICD10CM:C96.4 NCI:C27260 SNOMEDCT_US_2023_03_01:397355008 UMLS_CUI:C1301364 disease_ontology follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma 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/ ICD10CM:S12.8 ICD9CM:478.70 MESH:D007818 NCI:C26810 SNOMEDCT_US_2023_03_01:195863001 UMLS_CUI:C0023051 disease_ontology DOID:786 laryngeal disease NCI:C5792 UMLS_CUI:C1370504 germinoma of the adult central nervous system disease_ontology DOID:7867 adult central nervous system germinoma NCI:C6840 UMLS_CUI:C1334645 Inverted papilloma of the maxillary sinus disease_ontology DOID:7868 maxillary sinus inverted papilloma NCI:C27514 UMLS_CUI:C1332220 disease_ontology DOID:7875 adult xanthogranuloma An atypical polypoid adenomyoma that is located_in the uterine corpus. NCI:C40235 UMLS_CUI:C1519844 disease_ontology DOID:7878 uterine corpus atypical polypoid adenomyoma An atypical polypoid adenomyoma that is located_in the uterine corpus. url:https://www.ncbi.nlm.nih.gov/pubmed/23590013 An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. ICDO:8610/0 NCI:C40445 UMLS_CUI:C1517842 leuteoma of pregnancy luteoma of pregnancy disease_ontology DOID:7880 luteoma An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/ ICD10CM:H44.4 ICD9CM:360.3 MESH:D015814 NCI:C172147 SNOMEDCT_US_2023_03_01:23670006 UMLS_CUI:C0028841 Hypotony of eye disease_ontology DOID:790 ocular hypotension An extraskeletal myxoid chondrosarcoma occurring in adults. DOID:6495 NCI:C7924 UMLS_CUI:C1706731 adult extraosseous chondrosarcoma adult myxoid chondrosarcoma disease_ontology DOID:7902 adult myxoid chondrosarcoma Retired NCI concept. adult extraskeletal myxoid chondrosarcoma An extraskeletal myxoid chondrosarcoma occurring in adults. url:https://pubmed.ncbi.nlm.nih.gov/35144048/ NCI:C5462 UMLS_CUI:C1334238 disease_ontology DOID:7903 intracranial chondrosarcoma NCI:C8271 UMLS_CUI:C0280791 disease_ontology DOID:7907 mixed astrocytoma-ependymoma A squamous cell carcinoma that is located_in the maxillary sinus. NCI:C6064 SNOMEDCT_US_2023_03_01:1260080001 UMLS_CUI:C1334647 Epidermoid carcinoma of the Maxillofacial sinus disease_ontology DOID:7910 maxillary sinus squamous cell carcinoma A squamous cell carcinoma that is located_in the maxillary sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/25674251 MESH:D009837 NCI:C4050 SNOMEDCT_US_2023_03_01:22217002 UMLS_CUI:C0280793 WHO grade II mixed glioma disease_ontology DOID:7912 mixed oligodendroglioma-astrocytoma NCI:C5296 UMLS_CUI:C1332916 meningioma of the cervical Spinal canal and Spinal Cord disease_ontology DOID:7915 cervical spinal canal and spinal cord meningioma A mediastinal neurilemmoma characterized by the presence of psammoma bodies. NCI:C6636 UMLS_CUI:C1332513 benign Psammomatous Schwannoma of mediastinum benign mediastinal psammomatous neurilemmoma disease_ontology DOID:7921 mediastinal psammomatous neurilemmoma A mediastinal neurilemmoma characterized by the presence of psammoma bodies. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636 NCI:C6625 benign Schwannoma of mediastinum disease_ontology DOID:7922 Duplicate disease (NCI). obsolete benign mediastinal neurilemmoma true NCI:C7997 SNOMEDCT_US_2023_03_01:128716004 UMLS_CUI:C0279705 Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma disease_ontology DOID:7926 epithelial malignant thymoma NCI:C7999 SNOMEDCT_US_2023_03_01:128708008 UMLS_CUI:C0279707 Thymoma, medullary, malignant disease_ontology DOID:7927 malignant type A thymoma NCI:C9077 UMLS_CUI:C1377904 Refractory testicular carcinoma disease_ontology DOID:7928 testis refractory cancer NCI:C39926 UMLS_CUI:C1515305 disease_ontology DOID:7930 glandular-alveolar pattern testicular yolk sac tumor NCI:C8696 UMLS_CUI:C0854859 precursor T-lymphoblastic lymphoma/leukemia refractory disease_ontology DOID:7936 refractory T lymphoblastic leukemia/lymphoma NCI:C7027 UMLS_CUI:C1332460 Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa disease_ontology DOID:7941 Barrett's adenocarcinoma A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C27402 UMLS_CUI:C1332195 disease_ontology DOID:7945 adult central nervous system mixed germ cell tumor A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq NCI:C42060 UMLS_CUI:C1516761 disease_ontology DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma NCI:C42059 UMLS_CUI:C1516760 disease_ontology DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma A nipple carcinoma that is located_in the nipple duct. NCI:C27234 UMLS_CUI:C1334967 disease_ontology DOID:7953 nipple duct carcinoma A nipple carcinoma that is located_in the nipple duct. url:http://www.cancer.gov/dictionary?CdrID=45963 NCI:C6984 UMLS_CUI:C1335923 sarcomatous carcinoma of the penis disease_ontology DOID:7958 sarcomatoid penile squamous cell carcinoma NCI:C5731 SNOMEDCT_US_2023_03_01:879992009 UMLS_CUI:C1333321 Gastrinoma of duodenum duodenal G-cell gastrin producing tumor malignant duodenal gastrinoma disease_ontology DOID:7959 duodenal gastrinoma NCI:C5117 SNOMEDCT_US_2023_03_01:403942003 UMLS_CUI:C1266063 malignant eccrine spiradenoma disease_ontology DOID:7960 malignant spiradenoma A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. NCI:C40188 UMLS_CUI:C1518366 disease_ontology DOID:7961 cervical non-keratinizing squamous cell carcinoma A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/ An endometrial disease that is caused by tamoxifen exposure. NCI:C40159 UMLS_CUI:C1515212 disease_ontology DOID:7962 tamoxifen-related endometrial lesion An endometrial disease that is caused by tamoxifen exposure. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/ NCI:C39828 UMLS_CUI:C1512738 disease_ontology DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma NCI:C39823 UMLS_CUI:C1512742 disease_ontology DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma NCI:C39819 UMLS_CUI:C1512741 disease_ontology DOID:7969 nested variant infiltrating bladder urothelial carcinoma NCI:C39820 UMLS_CUI:C1512740 disease_ontology DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma NCI:C39822 UMLS_CUI:C1512739 disease_ontology DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. NCI:C5180 UMLS_CUI:C1334565 malignant Eccrine Spiradenoma of the breast disease_ontology DOID:7983 breast malignant eccrine spiradenoma A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/ url:https://www.ncbi.nlm.nih.gov/pubmed/10770427 A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. NCI:C27944 UMLS_CUI:C1335932 disease_ontology DOID:7984 sclerosing breast papilloma A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. url:http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51 url:https://www.ncbi.nlm.nih.gov/pubmed/25650849 NCI:C5267 UMLS_CUI:C1333597 Falcine meningioma disease_ontology DOID:7986 cerebral falx meningioma A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. ICD10CM:I83.90 MESH:D014648 NCI:C35114 OMIM:192200 SNOMEDCT_US_2023_03_01:276504003 UMLS_CUI:C0042345 Varix Venous ectasia Venous varices varices disease_ontology DOID:799 varicose veins 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/ NCI:C7002 UMLS_CUI:C1335150 disease_ontology DOID:7994 central nervous system osteosarcoma NCI:C5350 UMLS_CUI:C1333987 disease_ontology DOID:7996 familial glomangioma A thyroid gland disease that is characterized by excess thyroid hormone. ICD10CM:E05.9 ICD9CM:242 MESH:D013971 NCI:C61469 SNOMEDCT_US_2023_03_01:154655004 UMLS_CUI:C0040156 disease_ontology DOID:7997 OMIM mapping confirmed by DO. [LS]. thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/22394559 A thyroid gland disease that involves an over production of thyroid hormone. ICD10CM:E05.9 MESH:D006980 NCI:C113145 NCI:C3123 SNOMEDCT_US_2023_03_01:190239004 UMLS_CUI:C0020550 UMLS_CUI:C3714618 overactive thyroid disease_ontology DOID:7998 Xref MGI. hyperthyroidism MESH:D006980 A thyroid gland disease that involves an over production of thyroid hormone. url:https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism NCI:C5292 UMLS_CUI:C1333643 disease_ontology DOID:8000 frontal convexity meningioma NCI:C6793 SNOMEDCT_US_2023_03_01:126697005 UMLS_CUI:C0345726 Supraglottic tumor neoplasm of supraglottis disease_ontology DOID:8002 supraglottis neoplasm NCI:C4140 SNOMEDCT_US_2023_03_01:8097004 UMLS_CUI:C0334303 Alveolar adenoma adenoma of alveoli disease_ontology adenoma of the alveoli DOID:8003 alveoli adenoma NCI:C5277 UMLS_CUI:C1335481 primary meningioma of the skin disease_ontology DOID:8006 skin meningioma DOID:4485 DOID:5762 MESH:D010178 NCI:C27710 NCI:C55815 NCI:C7527 SNOMEDCT_US_2023_03_01:269562004 SNOMEDCT_US_2023_03_01:278065000 UMLS_CUI:C0030271 UMLS_CUI:C0549471 UMLS_CUI:C1335574 Pancoast tumour Pancoast's syndrome Pancoast's tumour Superior pulmonary sulcus syndrome malignant Superior Sulcus tumor malignant Superior Sulcus tumour pulmonary sulcus tumor pulmonary sulcus tumour disease_ontology DOID:8007 Pancoast tumor NCI:C39959 UMLS_CUI:C1513369 disease_ontology DOID:8009 penis mixed squamous cell carcinoma NCI:C6744 UMLS_CUI:C1334638 Mature teratoma of Pericardium disease_ontology DOID:8012 benign pericardial teratoma A papillary carcinoma that is located_in the penis. NCI:C6983 UMLS_CUI:C1335322 squamous carcinoma of penis, Papillary type disease_ontology DOID:8013 penis papillary carcinoma A papillary carcinoma that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pubmed/22367299 ICDO:8713/0 NCI:C4223 SNOMEDCT_US_2023_03_01:189745002 UMLS_CUI:C0334422 disease_ontology DOID:8020 glomangiomyoma A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. NCI:C5832 UMLS_CUI:C1333966 disease_ontology DOID:8022 liver fibrosarcoma A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. url:http://en.wikipedia.org/wiki/Fibrosarcoma A myxoid liposarcoma that is located_in the ovary. NCI:C5235 UMLS_CUI:C1335170 Myxoid Liposarcoma of Ovary disease_ontology DOID:8023 myxoid liposarcoma of the ovary A myxoid liposarcoma that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/20407326 NCI:C5250 UMLS_CUI:C1335965 Signet Ring cell adenocarcinoma of the stomach disease_ontology DOID:8025 gastric signet ring cell adenocarcinoma A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. NCI:C7566 UMLS_CUI:C1336076 disease_ontology DOID:8029 sporadic breast cancer A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer NCI:C6777 UMLS_CUI:C1335383 disease_ontology DOID:8030 periocular meningioma NCI:C6756 UMLS_CUI:C1335418 Pineal meningioma disease_ontology DOID:8031 pineal region meningioma An ovarian embryonal carcinoma that occurs in childhood. NCI:C6546 UMLS_CUI:C1332989 pediatric Embryonal carcinoma of Ovary disease_ontology childhood embryonal carcinoma of the ovary DOID:8036 childhood ovarian embryonal carcinoma An ovarian embryonal carcinoma that occurs in childhood. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma NCI:C40962 UMLS_CUI:C1514200 Polyembryoma of testis disease_ontology DOID:8042 testis polyembryoma A parachordoma arising from the chest wall. NCI:C6720 UMLS_CUI:C1332934 Parachordoma of the Chest Wall disease_ontology DOID:8043 chest wall parachordoma A parachordoma arising from the chest wall. url:https://pubmed.ncbi.nlm.nih.gov/24135242/ NCI:C39847 UMLS_CUI:C1511203 disease_ontology DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma NCI:C39848 UMLS_CUI:C1511196 disease_ontology DOID:8051 bladder papillary clear cell adenocarcinoma MESH:D008579 NCI:C6771 UMLS_CUI:C1335107 meningioma of the Olfactory Groove disease_ontology DOID:8057 olfactory groove meningioma NCI:C5311 UMLS_CUI:C1335422 meningioma of the Pituitary Stalk disease_ontology DOID:8058 pituitary stalk meningioma NCI:C6842 UMLS_CUI:C1333644 Inverted papilloma of the Frontal sinus disease_ontology DOID:8060 frontal sinus inverted papilloma A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. NCI:C40387 UMLS_CUI:C1512935 disease_ontology DOID:8068 intraductal breast myoepitheliosis A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. url:https://www.ncbi.nlm.nih.gov/pubmed/1709559 NCI:C41620 UMLS_CUI:C1519184 disease_ontology DOID:8072 sarcomatous intrahepatic cholangiocarcinoma NCI:C27406 UMLS_CUI:C1332953 disease_ontology DOID:8078 childhood central nervous system germinoma NCI:C39929 UMLS_CUI:C1515309 disease_ontology DOID:8081 myxomatous pattern testicular yolk sac tumor NCI:C39815 SNOMEDCT_US_2023_03_01:405941007 UMLS_CUI:C1320471 disease_ontology DOID:8082 cellular congenital mesoblastic nephroma NCI:C39814 UMLS_CUI:C1516475 disease_ontology DOID:8083 classic congenital mesoblastic nephroma NCI:C6839 UMLS_CUI:C1334646 Schneiderian papilloma of the maxillary sinus disease_ontology DOID:8093 maxillary sinus Schneiderian papilloma NCI:C39839 UMLS_CUI:C1511192 disease_ontology DOID:8096 bladder mixed adenocarcinoma NCI:C39838 UMLS_CUI:C1511189 disease_ontology DOID:8097 bladder hepatoid adenocarcinoma NCI:C4160 SNOMEDCT_US_2023_03_01:30301008 UMLS_CUI:C0334328 Microfollicular adenoma disease_ontology DOID:8102 fetal adenoma A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. DOID:6809 NCI:C40258 UMLS_CUI:C1519933 vaginal tubular adenoma disease_ontology DOID:8104 vaginal tubulovillous adenoma A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/23202776 url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 A bile duct cystadenoma located_in an extrahepatic bile duct. NCI:C5851 UMLS_CUI:C1333504 Cystadenoma of the extrahepatic bile duct disease_ontology DOID:8105 extrahepatic bile duct cystadenoma A bile duct cystadenoma located_in an extrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/25830005/ NCI:C41237 UMLS_CUI:C1516553 disease_ontology DOID:8106 cellular phase chronic idiopathic myelofibrosis NCI:C6170 UMLS_CUI:C1336884 urethral Fibroepithelial polyp disease_ontology DOID:8108 fibroepithelial polyp of urethra NCI:C7416 UMLS_CUI:C1336889 Nephrogenic adenoma of urethra disease_ontology DOID:8109 nephrogenic adenoma of the urethra A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. ICD10CM:E88.1 ICD9CM:272.6 MESH:D008060 NCI:C97093 SNOMEDCT_US_2023_03_01:190789006 UMLS_CUI:C0023787 disease_ontology DOID:811 lipodystrophy A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25690482 url:https://www.ncbi.nlm.nih.gov/pubmed/25833179 NCI:C27322 UMLS_CUI:C1335377 disease_ontology DOID:8110 periampullary adenocarcinoma A central nervous system disease that is characterized by neuron inflammation. NCI:C34847 UMLS_CUI:C0027881 disease_ontology DOID:8117 neuronitis A central nervous system disease that is characterized by neuron inflammation. url:https://en.wikipedia.org/wiki/Neuroinflammation A mature teratoma that has_material_basis_in gastric tissue. NCI:C5260 UMLS_CUI:C1334635 Mature teratoma of stomach disease_ontology DOID:8118 mature gastric teratoma A mature teratoma that has_material_basis_in gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/22953284 NCI:C7477 SNOMEDCT_US_2023_03_01:236811000119101 UMLS_CUI:C1332261 Paget's disease of the anal canal anal canal Paget disease disease_ontology Paget's disease of anal canal DOID:8119 anal canal Paget's disease NCI:C27542 UMLS_CUI:C1335974 disease_ontology DOID:8122 pseudovascular skin squamous cell carcinoma An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. DOID:7490 ICD10CM:M92 ICD10CM:M93.9 ICD9CM:732.6 MESH:D055034 NCI:C34879 SNOMEDCT_US_2023_03_01:203398006 SNOMEDCT_US_2023_03_01:65477003 UMLS_CUI:C0029429 UMLS_CUI:C0158445 Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis disease_ontology DOID:8125 osteochondrosis 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 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 GARD:6781 ICD10CM:M00 ICD9CM:711.90 ICD9CM:711.91 ICD9CM:711.92 ICD9CM:711.93 ICD9CM:711.94 ICD9CM:711.95 ICD9CM:711.96 ICD9CM:711.97 MESH:D001170 NCI:C26700 SNOMEDCT_US_2023_03_01:201594004 SNOMEDCT_US_2023_03_01:201595003 SNOMEDCT_US_2023_03_01:201596002 SNOMEDCT_US_2023_03_01:201597006 SNOMEDCT_US_2023_03_01:201598001 SNOMEDCT_US_2023_03_01:201599009 SNOMEDCT_US_2023_03_01:372938004 SNOMEDCT_US_2023_03_01:428437005 UMLS_CUI:C0003869 UMLS_CUI:C0157843 UMLS_CUI:C0157844 UMLS_CUI:C0157845 UMLS_CUI:C0157846 UMLS_CUI:C0157847 UMLS_CUI:C0157848 UMLS_CUI:C0157849 infectious arthritis disease_ontology DOID:813 septic arthritis An arthritis that involves infection by a pathogen located_in joint. 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 A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. DOID:5996 NCI:C40355 UMLS_CUI:C1511305 Columnar Cell Change of the Breast blunt duct adenosis of breast disease_ontology DOID:8130 breast columnar cell mucinous carcinoma A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. url:http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/29658333 DOID:8132 DOID:8896 ICD10CM:C10.1 ICD9CM:146.4 NCI:C35697 NCI:C4836 SNOMEDCT_US_2023_03_01:187849008 SNOMEDCT_US_2023_03_01:93670003 UMLS_CUI:C0496765 UMLS_CUI:C0585946 UMLS_CUI:C1112382 epiglottic cancer malignant tumor of Epiglottis disease_ontology DOID:8133 epiglottis cancer NCI:C5734 UMLS_CUI:C1333748 Lymphoma of the gallbladder disease_ontology DOID:8135 gallbladder lymphoma NCI:C6462 UMLS_CUI:C1333069 Clear cell carcinoma of the Thymus disease_ontology DOID:8137 thymus clear cell carcinoma NCI:C6463 UMLS_CUI:C1335924 Thymic Carcinosarcoma disease_ontology DOID:8138 thymus sarcomatoid carcinoma NCI:C7646 UMLS_CUI:C1332176 disease_ontology DOID:8140 adrenal gland ganglioneuroblastoma NCI:C37204 UMLS_CUI:C1333038 CLL/SLL with Unmutated IGVH disease_ontology DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma NCI:C6541 UMLS_CUI:C1334574 malignant pediatric germ cell tumor disease_ontology DOID:8149 malignant childhood germ cell neoplasm NCI:C5726 SNOMEDCT_US_2023_03_01:780821007 UMLS_CUI:C1518871 disease_ontology DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma NCI:C27445 UMLS_CUI:C3274138 appendiceal L-cell glucagon-like peptide producing tumour malignant appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal L-cell glucagon-like peptide producing tumour malignant appendiceal glucagonoma disease_ontology DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor NCI:C6573 UMLS_CUI:C1333612 Fibroosseous Digital Pseudotumor disease_ontology DOID:8153 fibroosseous pseudotumor of digits A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. MESH:C537005 NCI:C9469 OMIM:609536 ORDO:169150 C5 deficiency disease_ontology DOID:8158 OMIM mapping confirmed by DO. [SN]. complement component 5 deficiency A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. url:http://omim.org/entry/609536 url:https://ghr.nlm.nih.gov/gene/C5 A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. MESH:C536913 NCI:C4946 OMIM:607464 SNOMEDCT_US_2023_03_01:423158009 UMLS_CUI:C0749424 oncocytic carcinoma of the thyroid disease_ontology DOID:8161 OMIM mapping confirmed by DO. [LS]. thyroid gland Hurthle cell carcinoma A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946 NCI:C6042 UMLS_CUI:C1336750 benign oncocytoma of the thyroid disease_ontology DOID:8162 thyroid Hurthle cell adenoma NCI:C5735 UMLS_CUI:C1333749 malignant melanoma of gallbladder disease_ontology DOID:8167 gallbladder melanoma NCI:C35786 SNOMEDCT_US_2023_03_01:37925008 UMLS_CUI:C0027060 disease_ontology DOID:817 interstitial myocarditis NCI:C5604 Fibroepithelial polyp of anus disease_ontology DOID:8170 fibroepithelial polyp of the anus A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. NCI:C40232 UMLS_CUI:C1516405 disease_ontology DOID:8177 endocervical type cervical adenomyoma A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. url:http://www.pathologyoutlines.com/topic/cervixadenomyoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/23805464 A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. NCI:C40233 UMLS_CUI:C5557432 disease_ontology DOID:8178 endometrial type cervical adenomyoma A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/8685218 A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. NCI:C40234 UMLS_CUI:C1516409 disease_ontology DOID:8179 cervical atypical polypoid adenomyoma A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/23805464 A gestational choriocarcinoma that is located_in the fallopian tube. NCI:C6278 UMLS_CUI:C1333593 Gestational Choriocarcinoma of the fallopian tube disease_ontology DOID:8186 fallopian tube gestational choriocarcinoma A gestational choriocarcinoma that is located_in the fallopian tube. url:https://www.ncbi.nlm.nih.gov/pubmed/24219747 A choriocarcinoma that is located_in the uterine corpus. NCI:C27246 UMLS_CUI:C1336904 disease_ontology DOID:8188 uterine corpus choriocarcinoma A choriocarcinoma that is located_in the uterine corpus. url:https://www.ncbi.nlm.nih.gov/pubmed/16720931 A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. ICD10CM:J98.51 ICD9CM:519.2 MESH:D008480 NCI:C26827 SNOMEDCT_US_2023_03_01:47597000 UMLS_CUI:C0025064 disease_ontology DOID:819 mediastinitis A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. url:http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext NCI:C39928 UMLS_CUI:C1515310 disease_ontology DOID:8193 papillary pattern testicular yolk sac tumor NCI:C39931 UMLS_CUI:C1515306 disease_ontology DOID:8195 hepatoid pattern testicular yolk sac tumor A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. ICD9CM:366.43 NCI:C34833 SNOMEDCT_US_2023_03_01:64741003 UMLS_CUI:C0027128 disease_ontology DOID:82 myotonic cataract A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. url:https://www.nature.com/articles/s41433-018-0161-9 url:https://www.ncbi.nlm.nih.gov/pubmed/25037086 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. GARD:7137 ICD10CM:I51.4 ICD9CM:429.0 KEGG:05416 MESH:D009205 NCI:C34831 SNOMEDCT_US_2023_03_01:50920009 UMLS_CUI:C0027059 Myocardial inflammation disease_ontology DOID:820 myocarditis MESH:D009205 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. url:http://en.wikipedia.org/wiki/Myocarditis 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. ICD10CM:A52 ICD9CM:097.0 MESH:C536774 NCI:C128414 SNOMEDCT_US_2023_03_01:72083004 UMLS_CUI:C0153188 late syphilis disease_ontology DOID:8200 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis NCI:C5299 UMLS_CUI:C1335893 meningioma of the Sacral Spinal canal and Spinal Cord disease_ontology DOID:8203 sacral spinal canal and spinal cord meningioma NCI:C7454 UMLS_CUI:C1334445 disease_ontology DOID:8207 hilar lung carcinoma NCI:C7779 UMLS_CUI:C1336529 Superior Sulcus carcinoma of the lung disease_ontology superior sulcus carcinoma of lung DOID:8208 lung superior sulcus carcinoma A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40114 UMLS_CUI:C1517111 disease_ontology DOID:8211 fallopian tube cystadenofibroma A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. url:http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html url:https://www.ncbi.nlm.nih.gov/pubmed/26549083 NCI:C5303 UMLS_CUI:C5421232 Primary Parapharyngeal Meningioma disease_ontology DOID:8216 parapharyngeal meningioma NCI:C5290 UMLS_CUI:C1336871 meningioma of the Upper Clivus disease_ontology DOID:8221 upper clivus meningioma NCI:C39868 UMLS_CUI:C1518950 disease_ontology DOID:8223 penile urethral cancer A breast duct papilloma that is located_in a major duct. DOID:8226 NCI:C36087 UMLS_CUI:C1332896 large duct breast papilloma solitary intraductal breast papilloma disease_ontology DOID:8224 central breast papilloma A breast duct papilloma that is located_in a major duct. url:https://radiopaedia.org/articles/intraductal-papilloma-of-breast url:https://www.ncbi.nlm.nih.gov/pubmed/21310798 NCI:C36088 UMLS_CUI:C1335390 disease_ontology DOID:8225 microscopic breast papilloma A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. NCI:C36089 UMLS_CUI:C1332346 disease_ontology DOID:8227 atypical breast papilloma A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. url:https://www.ncbi.nlm.nih.gov/pubmed/20407326 A biliary papillomatosis located_in an intrahepatic bile duct. NCI:C7125 UMLS_CUI:C1334258 disease_ontology DOID:8230 intrahepatic biliary papillomatosis A biliary papillomatosis located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/26885145/ NCI:C6508 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C1370890 disease_ontology DOID:8233 inflammatory liposarcoma NCI:C5288 UMLS_CUI:C1334434 meningioma of the lower Clivus disease_ontology DOID:8239 lower clivus meningioma EFO:0000649 ICD10CM:K05.3 MESH:D010518 NCI:C34918 SNOMEDCT_US_2023_03_01:266491004 UMLS_CUI:C0031099 chronic pericementitis disease_ontology DOID:824 periodontitis A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). ICDO:8728/3 NCI:C6891 SNOMEDCT_US_2023_03_01:128731008 UMLS_CUI:C1266114 Leptomeningeal melanomatosis disease_ontology DOID:8243 meningeal melanomatosis A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). url:https://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/ ICDO:8901/3 NCI:C27369 SNOMEDCT_US_2023_03_01:77455004 UMLS_CUI:C1332211 disease_ontology DOID:8251 adult pleomorphic rhabdomyosarcoma 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. ICD10CM:J31.0 ICD9CM:472.0 NCI:C34479 SNOMEDCT_US_2023_03_01:155522005 UMLS_CUI:C0008711 Rhinitis - chronic disease_ontology DOID:8252 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. url:http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh NCI:C6857 UMLS_CUI:C1336978 Vulval Fibroepithelial polyp disease_ontology DOID:8255 vulva fibroepithelial polyp NCI:C39869 UMLS_CUI:C1511339 disease_ontology DOID:8259 bulbomembranous urethral cancer A female urethral cancer located_in the anterior urethra. NCI:C7641 UMLS_CUI:C0279930 Anterior urethral malignant tumor disease_ontology DOID:8272 anterior urethra cancer A female urethral cancer located_in the anterior urethra. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer NCI:C6525 UMLS_CUI:C1336546 hemangioma of Synovium disease_ontology DOID:8274 synovial angioma An embryonal testis carcinoma that is located within a tubule. NCI:C7325 UMLS_CUI:C1336096 disease_ontology DOID:8275 intratubular embryonal carcinoma An embryonal testis carcinoma that is located within a tubule. url:https://www.ncbi.nlm.nih.gov/pubmed/11900581 NCI:C7944 UMLS_CUI:C0279545 disease_ontology DOID:8282 adult epithelioid sarcoma NCI:C4459 SNOMEDCT_US_2023_03_01:254652000 UMLS_CUI:C0345978 Clear cell squamous cell carcinoma of skin disease_ontology DOID:8288 clear cell squamous cell skin carcinoma ICDO:8330/1 NCI:C27729 SNOMEDCT_US_2023_03_01:128892009 UMLS_CUI:C1266046 disease_ontology DOID:8292 atypical follicular adenoma 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. ICD10CM:B86 ICD9CM:133.0 MESH:D012532 NCI:C34998 SNOMEDCT_US_2023_03_01:266224002 UMLS_CUI:C0036262 Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch disease_ontology DOID:8295 scabies MESH:D012532 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 A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. NCI:C40178 UMLS_CUI:C1513364 Stromomyoma disease_ontology DOID:8302 mixed endometrial stromal and smooth muscle tumor A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25755804 A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. NCI:C6584 UMLS_CUI:C1335295 Palisaded Myofibroblastoma of the Lymph Node disease_ontology DOID:8304 lymph node palisaded myofibroblastoma A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. url:http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html NCI:C6583 UMLS_CUI:C1335063 Nonossifying Fibromyxoma disease_ontology DOID:8305 nonossifying fibromyxoid tumor A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion. NCI:C36096 UMLS_CUI:C1333369 disease_ontology DOID:8307 early invasive cervical adenocarcinoma A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion. url:https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. NCI:C5205 SNOMEDCT_US_2023_03_01:105261000119101 UMLS_CUI:C1335931 Sclerosing breast Adenosis disease_ontology DOID:8310 sclerosing adenosis of breast A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. MESH:D004428 NCI:C3000 SNOMEDCT_US_2023_03_01:363228008 UMLS_CUI:C0013449 disease_ontology DOID:833 auditory system cancer 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 NCI:C6526 UMLS_CUI:C1335382 disease_ontology DOID:8331 perineural angioma NCI:C5199 UMLS_CUI:C1334753 disease_ontology DOID:8335 microglandular adenosis of breast A choriocarcinoma of the ovary that is present during childhood. NCI:C6549 UMLS_CUI:C1332987 childhood ovarian choriocarcinoma pediatric Choriocarcinoma of Ovary disease_ontology DOID:8336 childhood choriocarcinoma of the ovary A choriocarcinoma of the ovary that is present during childhood. url:https://www.sciencedirect.com/science/article/pii/S1875957211000349 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 ICD10CM:K37 ICD9CM:540-543.99 MESH:D001064 NCI:C35145 SNOMEDCT_US_2023_03_01:155729003 UMLS_CUI:C0003615 acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess disease_ontology DOID:8337 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. url:http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 url:https://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. NCI:C40208 UMLS_CUI:C4289808 disease_ontology DOID:8338 villoglandular variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. url:http://www.pathologyoutlines.com/topic/uterusvilloglandular.html A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. NCI:C40203 UMLS_CUI:C1516422 disease_ontology DOID:8339 intestinal variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/ A vascular cancer that is located_in the aorta. NCI:C5375 UMLS_CUI:C1334560 aortic malignant neoplasm disease_ontology DOID:8352 aortic malignant tumor A vascular cancer that is located_in the aorta. url:https://www.ncbi.nlm.nih.gov/pubmed/14681654 NCI:C6561 SNOMEDCT_US_2023_03_01:253093000 UMLS_CUI:C1321427 epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath disease_ontology DOID:8353 epithelioid malignant peripheral nerve sheath tumor A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. NCI:C9468 OMIM:613779 ORDO:280133 SNOMEDCT_US_2023_03_01:771443008 UMLS_CUI:C1332655 C3 deficiency disease_ontology DOID:8354 Xref MGI. complement component 3 deficiency A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. url:https://www.omim.org/entry/613779 NCI:C40958 UMLS_CUI:C1515293 disease_ontology DOID:8358 pseudoglandular variant testicular seminoma A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. NCI:C40212 UMLS_CUI:C1516407 disease_ontology DOID:8361 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. url:http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix url:https://www.ncbi.nlm.nih.gov/pubmed/14749637 url:https://www.ncbi.nlm.nih.gov/pubmed/15318016 NCI:C39932 UMLS_CUI:C1515304 disease_ontology DOID:8362 enteric pattern testicular yolk sac tumor A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. ICDO:9538/1 NCI:C6908 SNOMEDCT_US_2023_03_01:57606003 UMLS_CUI:C1370510 meningioma, chordoid disease_ontology DOID:8368 chordoid meningioma A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. url:https://pubmed.ncbi.nlm.nih.gov/36692061/ NCI:C7814 UMLS_CUI:C0278622 adult MPNST disease_ontology DOID:8369 adult malignant schwannoma NCI:C5824 UMLS_CUI:C1334437 tumor of Lumbar Plexus disease_ontology DOID:8389 lumbar plexus neoplasm NCI:C39923 UMLS_CUI:C1515308 disease_ontology DOID:8392 reticular pattern testicular yolk sac tumor NCI:C39946 UMLS_CUI:C1515284 disease_ontology DOID:8394 adult type testicular granulosa cell tumor An ischemic bone disease that results_in necrosis located_in epiphysis. DOID:87 GARD:12703 ICD10CM:M93.2 ICD10CM:M93.9 ICD9CM:732.7 MESH:D010007 MESH:D010008 NCI:C34877 NCI:C34878 OMIM:165800 SNOMEDCT_US_2023_03_01:156821002 SNOMEDCT_US_2023_03_01:70736000 UMLS_CUI:C0029420 UMLS_CUI:C0029421 OCD disease_ontology DOID:84 OMIM mapping confirmed by DO. [SN]. osteochondritis dissecans 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 NCI:C4553 SNOMEDCT_US_2023_03_01:255009006 UMLS_CUI:C0346367 malignant Corneal melanoma malignant melanoma of cornea disease_ontology DOID:8400 malignant cornea melanoma A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. NCI:C27300 SNOMEDCT_US_2023_03_01:48241004 UMLS_CUI:C0267497 Meckel diverticulitis disease_ontology DOID:8408 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. url:https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis url:https://www.ncbi.nlm.nih.gov/pubmed/17021300 url:https://www.ncbi.nlm.nih.gov/pubmed/17579156 A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. NCI:C36094 UMLS_CUI:C1333370 disease_ontology DOID:8409 microinvasive cervical squamous cell carcinoma A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. url:http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html 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 GARD:12 ICD10CM:J67.9 ICD9CM:495 MESH:D000542 NCI:C34369 SNOMEDCT_US_2023_03_01:155581001 UMLS_CUI:C0002390 alveolitis hypersensitivity pneumonitis disease_ontology DOID:841 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. url:http://www.merck.com/mmhe/sec04/ch051/ch051b.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm NCI:C6565 UMLS_CUI:C1333000 pediatric renal Angiomyolipoma disease_ontology DOID:8410 childhood kidney angiomyolipoma NCI:C3888 SNOMEDCT_US_2023_03_01:254921004 UMLS_CUI:C0241961 Angiomyolipoma of kidney renal Angiomyolipoma disease_ontology DOID:8411 kidney angiomyolipoma NCI:C27389 UMLS_CUI:C1332840 disease_ontology DOID:8415 carcinoma arising in nasal papillomatosis NCI:C4244 SNOMEDCT_US_2023_03_01:403996004 UMLS_CUI:C0334459 Infantile fibrosarcoma disease_ontology DOID:8418 congenital fibrosarcoma NCI:C4161 SNOMEDCT_US_2023_03_01:26545006 UMLS_CUI:C0334329 Macrofollicular adenoma disease_ontology DOID:8419 colloid adenoma NCI:C6560 SNOMEDCT_US_2023_03_01:699659007 UMLS_CUI:C1333821 glandular MPNST disease_ontology DOID:8420 malignant glandular tumor of peripheral nerve sheath NCI:C4469 SNOMEDCT_US_2023_03_01:254694002 UMLS_CUI:C0346006 follicular infundibulum tumour neoplasm of the Follicular Infundibulum tumor of follicular infundibulum tumour of follicular infundibulum disease_ontology DOID:8426 follicular infundibulum tumor NCI:C8601 SNOMEDCT_US_2023_03_01:423673009 UMLS_CUI:C0853394 malignant Retinal melanoma disease_ontology DOID:8427 retinal melanoma A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. NCI:C5140 UMLS_CUI:C1332315 Apocrine carcinoma in situ of the breast disease_ontology DOID:8428 breast apocrine carcinoma in situ A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. url:http://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html url:https://www.ncbi.nlm.nih.gov/pubmed/23771415 url:https://www.ncbi.nlm.nih.gov/pubmed/25374127 NCI:C27311 UMLS_CUI:C0856817 disease_ontology DOID:8431 physiological polycythemia A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. ICD10CM:D75.1 MESH:D011086 NCI:C26863 SNOMEDCT_US_2023_03_01:127062003 UMLS_CUI:C0032461 Erythrocythemia disease_ontology DOID:8432 polycythemia A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera url:https://www.nhlbi.nih.gov/health-topics/polycythemia-vera NCI:C27331 UMLS_CUI:C0877367 disease_ontology DOID:8433 thyroid malformation ICD10CM:K56.609 ICD9CM:560.9 MESH:D007415 NCI:C9175 SNOMEDCT_US_2023_03_01:81060008 UMLS_CUI:C0021843 disease_ontology DOID:8437 intestinal obstruction MESH:D045823 NCI:C37979 SNOMEDCT_US_2023_03_01:278524008 UMLS_CUI:C1258215 Ileus of intestine disease_ontology DOID:8440 ileus ICD10CM:K56.0 ICD9CM:560.1 MESH:D007418 NCI:C93045 SNOMEDCT_US_2023_03_01:155773004 UMLS_CUI:C0030446 disease_ontology DOID:8442 paralytic ileus An intestinal obstruction characterized by abnormal rotation of the intestines. ICD10CM:K56.2 ICD9CM:560.2 MESH:D045822 NCI:C98963 OMIM:193250 SNOMEDCT_US_2023_03_01:9707006 UMLS_CUI:C0042961 Twist of intestine, bowel, or colon Volvulus familial intestinal malrotation volvulus of midgut disease_ontology DOID:8445 intestinal volvulus An intestinal obstruction characterized by abnormal rotation of the intestines. url:https://www.ncbi.nlm.nih.gov/pubmed/20549505 ICD10CM:K56.1 ICD9CM:560.0 MESH:D007443 NCI:C113484 OMIM:147710 SNOMEDCT_US_2023_03_01:155772009 UMLS_CUI:C0021933 Intussusception of intestine Invagination of intestine or colon disease_ontology DOID:8446 OMIM mapping confirmed by DO. [SN]. intussusception A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). ICD10CM:E53.1 ICD9CM:266.1 MESH:D026681 NCI:C85221 SNOMEDCT_US_2023_03_01:18881008 UMLS_CUI:C0936215 vitamin B6 deficiency syndrome disease_ontology DOID:8455 pyridoxine deficiency anemia A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). url:https://www.ncbi.nlm.nih.gov/books/NBK470579/ 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. GARD:5764 MESH:D058540 NCI:C35256 OMIM:304050 ORDO:50 SNOMEDCT_US_2023_03_01:80651009 UMLS_CUI:C0175713 disease_ontology DOID:8461 OMIM mapping confirmed by DO. [SN]. Aicardi syndrome MESH:D058540 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 ICD10CM:H16.0 ICD9CM:370.0 MESH:D003320 NCI:C50515 SNOMEDCT_US_2023_03_01:193758008 UMLS_CUI:C0010043 disease_ontology DOID:8463 corneal ulcer ICD10CM:H33.10 ICD9CM:361.10 MESH:D041441 NCI:C85046 SNOMEDCT_US_2023_03_01:389992006 UMLS_CUI:C0152439 disease_ontology DOID:8465 retinoschisis A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. MESH:D012162 NCI:C34979 SNOMEDCT_US_2023_03_01:95695004 UMLS_CUI:C0035304 degeneration of retina disease_ontology DOID:8466 retinal degeneration A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) 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 ICD10CM:J11.1 ICD9CM:487 MESH:D007251 NCI:C53482 SNOMEDCT_US_2023_03_01:155559006 UMLS_CUI:C0021400 Influenza with other manifestations flu influenza with non-respiratory manifestation disease_ontology DOID:8469 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. url:http://www.merck.com/mmhe/sec17/ch198/ch198d.html url:http://www.who.int/mediacentre/factsheets/2003/fs211/en/ GARD:7058 ICD10CM:L94.0 ICD9CM:701.0 MESH:D012594 NCI:C72069 SNOMEDCT_US_2023_03_01:90424004 UMLS_CUI:C0036420 Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea disease_ontology DOID:8472 localized scleroderma GARD:7889 ICD10CM:K90.81 ICD9CM:040.2 MESH:D008061 NCI:C85228 SNOMEDCT_US_2023_03_01:41545003 UMLS_CUI:C0023788 Whipple's disease intestinal lipodystrophy disease_ontology DOID:8476 Whipple disease 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. DOID:0050000 DOID:13079 GARD:5728 ICD10CM:A42 ICD9CM:039.9 MESH:D000196 NCI:C34350 SNOMEDCT_US_2023_03_01:50508009 UMLS_CUI:C0001261 Actinomycotic madura foot Actinomycotic mycetema Actinomycotic mycetoma of foot Madura foot due to Actinomadura actinomycotic infection disease_ontology actinomycetoma DOID:8478 actinomycosis MESH:D000196 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://en.wikipedia.org/wiki/Actinomycosis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. ICD10CM:M19.90 MESH:D001168 NCI:C2883 SNOMEDCT_US_2023_03_01:372091005 UMLS_CUI:C0003864 Inflammatory disorder of joint disease_ontology DOID:848 arthritis MESH:D001168 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. url:http://en.wikipedia.org/wiki/Arthritis url:http://www.arthritis.org/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm url:https://www.cdc.gov/arthritis/index.htm ls:IEDB DOID:14025 DOID:14036 ICD10CM:I01.9 ICD10CM:M05.3 ICD9CM:391.9 ICD9CM:398.0 NCI:C34985 SNOMEDCT_US_2023_03_01:195136004 SNOMEDCT_US_2023_03_01:8805001 UMLS_CUI:C0035440 UMLS_CUI:C0489959 Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis disease_ontology DOID:8481 rheumatic myocarditis ICD10CM:H34.0 ICD9CM:362.34 NCI:C35193 SNOMEDCT_US_2023_03_01:87224000 UMLS_CUI:C0154840 Retinal transient arterial occlusion Transient arterial retinal occlusion disease_ontology DOID:8482 transient retinal arterial occlusion MESH:D015356 NCI:C34978 SNOMEDCT_US_2023_03_01:232035005 UMLS_CUI:C0035302 disease_ontology DOID:8483 retinal artery occlusion A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. ICD10CM:O40 ICD9CM:657.0 MESH:D006831 NCI:C92848 SNOMEDCT_US_2023_03_01:157052008 UMLS_CUI:C0020224 disease_ontology DOID:8488 polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. url:http://en.wikipedia.org/wiki/Polyhydramnios A retinal disease that is characterized by difficulty or the inability to see in relatively low light. ICD10CM:H53.6 ICD9CM:368.6 MESH:D009755 NCI:C34850 SNOMEDCT_US_2023_03_01:75390007 UMLS_CUI:C0028077 nyctalopia disease_ontology DOID:8499 night blindness A retinal disease that is characterized by difficulty or the inability to see in relatively low light. url:https://en.wikipedia.org/wiki/Nyctalopia 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 ICD10CM:J98.4 MESH:D008171 NCI:C3198 SNOMEDCT_US_2023_03_01:266374002 UMLS_CUI:C0024115 disease_ontology DOID:850 Updating out dated CUI and removing lung abscess as a synonym. 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. url:http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm ICD10CM:H35.5 ICD9CM:362.7 NCI:C35194 SNOMEDCT_US_2023_03_01:41799005 UMLS_CUI:C0154860 disease_ontology DOID:8500 hereditary retinal dystrophy MESH:D058499 NCI:C35625 SNOMEDCT_US_2023_03_01:314407005 UMLS_CUI:C0854723 Retinal Dystrophy disease_ontology DOID:8501 fundus dystrophy 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. ICD10CM:L01.0 ICD9CM:684 MESH:D007169 NCI:C99088 SNOMEDCT_US_2023_03_01:156319000 UMLS_CUI:C0021099 disease_ontology DOID:8504 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. url:https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352 GARD:1917 ICD10CM:L13.0 ICD9CM:694.0 MESH:D003874 NCI:C26742 SNOMEDCT_US_2023_03_01:200899006 UMLS_CUI:C0011608 Dermatosis herpetiformis Duhring's disease disease_ontology DOID:8505 dermatitis herpetiformis A pemphigoid that is characterized by large blisters. GARD:5972 ICD10CM:L12.0 ICD9CM:694.5 MESH:D010391 NCI:C84389 SNOMEDCT_US_2023_03_01:77090002 UMLS_CUI:C0030805 disease_ontology DOID:8506 bullous pemphigoid A pemphigoid that is characterized by large blisters. url:https://rarediseases.org/rare-diseases/bullous-pemphigoid/ sn:IEDB A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. ICD10CM:N75.0 ICD9CM:616.2 NCI:C26706 SNOMEDCT_US_2023_03_01:57044006 UMLS_CUI:C0004767 Bartholin duct cyst Bartholin's Cyst Cyst of Bartholin's gland Cyst of Bartholin's gland duct disease_ontology DOID:851 Bartholin's duct cyst A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. url:https://www.ncbi.nlm.nih.gov/pubmed/12887119 A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. ICD10CM:M35.3 ICD9CM:725 MESH:D011111 NCI:C85018 SNOMEDCT_US_2023_03_01:202834009 UMLS_CUI:C0032533 disease_ontology DOID:853 polymyalgia rheumatica A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. url:https://medlineplus.gov/polymyalgiarheumatica.html A pharynx cancer that is located_in the hypopharynx. DOID:12202 DOID:8532 DOID:9160 GARD:9334 ICD10CM:C13 ICD10CM:C13.2 ICD9CM:148 ICD9CM:148.3 MESH:D007012 NCI:C7190 SNOMEDCT_US_2023_03_01:93831006 SNOMEDCT_US_2023_03_01:93968005 UMLS_CUI:C0153398 UMLS_CUI:C0496770 Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx disease_ontology DOID:8533 hypopharynx cancer A pharynx cancer that is located_in the hypopharynx. url:http://en.wikipedia.org/wiki/Hypopharynx ICD10CM:K21.9 ICD9CM:530.81 MESH:D005764 NCI:C26781 OMIM:109350 SNOMEDCT_US_2023_03_01:235595009 UMLS_CUI:C0017168 Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux disease_ontology DOID:8534 OMIM mapping confirmed by DO. [SN]. gastroesophageal reflux disease 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:8554 DOID:8555 DOID:8772 DOID:8801 DOID:9085 ICD10CM:B02 ICD9CM:053 MESH:D006562 NCI:C71079 SNOMEDCT_US_2023_03_01:186514003 UMLS_CUI:C0019360 Shingles herpes zona disease_ontology DOID:8536 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. url:http://en.wikipedia.org/wiki/Herpes_zoster url:http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm DOID:8537 ICD9CM:200.0 MESH:D008228 NCI:C27824 OMIM:267730 SNOMEDCT_US_2023_03_01:154579006 UMLS_CUI:C0024302 histiocytic lymphoma large-cell Lymphomas disease_ontology DOID:8538 OMIM mapping confirmed by DO. [SN]. reticulosarcoma A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. MESH:D003095 NCI:C27204 SNOMEDCT_US_2023_03_01:268048008 UMLS_CUI:C0009326 collagen disorder disease_ontology DOID:854 collagen disease A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. url:https://en.wikipedia.org/wiki/Connective_tissue_disease DOID:8790 GARD:7629 ICD10CM:C84.1 ICD9CM:202.2 MESH:D012751 NCI:C3366 SNOMEDCT_US_2023_03_01:4950009 UMLS_CUI:C0036920 Sezary disease Sezary syndrome disease_ontology DOID:8541 Sezary's disease ICD10CM:C81.4 ICD9CM:201.4 MESH:D006689 NCI:C6913 SNOMEDCT_US_2023_03_01:128799007 UMLS_CUI:C1266194 Hodgkin lymphoma, lymphocyte-rich Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance Lymphocyte Rich Hodgkin's disease disease_ontology DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance 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. GARD:7121 ICD10CM:G93.32 ICD9CM:780.71 MESH:D015673 NCI:C3037 SNOMEDCT_US_2023_03_01:193054000 UMLS_CUI:C0015674 CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome disease_ontology DOID:8544 No OMIM mapping, confirmed by DO. [LS]. 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. url:http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome A muscle tissue 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 and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). GARD:6964 ICD10CM:T88.3 ICD9CM:995.86 MESH:D008305 NCI:C84869 OMIM:PS145600 ORDO:423 SNOMEDCT_US_2023_03_01:111738008 UMLS_CUI:C0024591 anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia disease_ontology DOID:8545 Xref MGI. OMIM mapping confirmed by DO. [SN]. malignant hyperthermia A muscle tissue 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 and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). url:http://en.wikipedia.org/wiki/Malignant_hyperthermia A pharynx cancer that is located_in the oropharynx. DOID:8684 DOID:8851 DOID:8949 DOID:9168 ICD10CM:C10 ICD10CM:C10.2 ICD10CM:C10.3 ICD10CM:C10.8 ICD9CM:146 ICD9CM:146.5 ICD9CM:146.6 ICD9CM:146.7 NCI:C7398 SNOMEDCT_US_2023_03_01:187686007 SNOMEDCT_US_2023_03_01:93933005 SNOMEDCT_US_2023_03_01:93971002 UMLS_CUI:C0153382 UMLS_CUI:C0153388 UMLS_CUI:C0153389 UMLS_CUI:C0153390 Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer disease_ontology DOID:8557 oropharynx cancer A pharynx cancer that is located_in the oropharynx. url:http://www.cancer.gov/dictionary?CdrID=446523 A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. GARD:894 ICD10CM:D81.810 MESH:D028921 NCI:C84598 OMIM:253260 SNOMEDCT_US_2023_03_01:8808004 UMLS_CUI:C0220754 BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase disease_ontology DOID:856 OMIM mapping confirmed by DO. [SN]. biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 DOID:8563 DOID:8605 DOID:8975 DOID:9031 DOID:9135 ICD10CM:C00 ICD9CM:140 ICD9CM:140.6 ICD9CM:140.8 MESH:D008048 NCI:C7485 SNOMEDCT_US_2023_03_01:187626009 SNOMEDCT_US_2023_03_01:93762003 SNOMEDCT_US_2023_03_01:93869001 UMLS_CUI:C0153340 UMLS_CUI:C0153346 UMLS_CUI:C0153347 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 malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa 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 vermilion border of lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lip malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip disease_ontology DOID:8564 lip cancer 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:8763 DOID:9012 DOID:9239 ICD10CM:B00.9 ICD9CM:054 MESH:D006561 NCI:C155871 SNOMEDCT_US_2023_03_01:88594005 UMLS_CUI:C0019348 Herpesvirus hominis disease disease_ontology DOID:8566 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. url:http://en.wikipedia.org/wiki/Herpes_simplex url:https://www.aad.org/public/diseases/a-z/herpes-simplex-overview A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. DOID:0060059 DOID:8652 DOID:8671 DOID:8685 DOID:8710 DOID:8715 DOID:8841 DOID:8953 DOID:9096 DOID:9107 EFO:0000183 GARD:2714 ICD10CM:C81 ICD9CM:201 MESH:D006689 NCI:C9357 OMIM:236000 OMIM:300221 OMIM:400021 ORDO:98293 SNOMEDCT_US_2023_03_01:118599009 UMLS_CUI:C0019829 HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma disease_ontology DOID:8567 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hodgkin's lymphoma MESH:D006689 NCI:C9357 A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. url:https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma url:https://www.ncbi.nlm.nih.gov/pubmed/22835602 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. ICD10CM:B27 ICD9CM:075 MESH:D007244 NCI:C34726 SNOMEDCT_US_2023_03_01:154359004 UMLS_CUI:C0021345 Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis disease_ontology DOID:8568 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. url:http://en.wikipedia.org/wiki/Infectious_mononucleosis url:http://www.cdc.gov/ncidod/diseases/ebv.htm A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. DOID:8576 DOID:9016 EFO:0000729 ICD10CM:K51 ICD9CM:556 ICD9CM:556.5 MESH:D003093 NCI:C2952 SNOMEDCT_US_2023_03_01:196988003 SNOMEDCT_US_2023_03_01:441971007 UMLS_CUI:C0009324 UMLS_CUI:C0375359 Left-sided ulcerative colitis disease_ontology DOID:8577 OMIM mapping confirmed by DO. [LS]. ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. url:http://en.wikipedia.org/wiki/Ulcerative_colitis url:https://meshb.nlm.nih.gov/record/ui?ui=D003093 ICD10CM:C05.1 ICD9CM:145.3 NCI:C3529 SNOMEDCT_US_2023_03_01:94049001 UMLS_CUI:C0153376 malignant tumor of soft palate malignant tumor of the soft Palate disease_ontology DOID:8578 soft palate cancer A mature B-cell neoplasm of B-cells found in the germinal center. GARD:5973 ICD10CM:C83.7 ICD9CM:200.2 ICDO:9687/3 MESH:D002051 NCI:C2912 OMIM:113970 ORDO:543 SNOMEDCT_US_2023_03_01:118617000 UMLS_CUI:C0006413 Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type disease_ontology DOID:8584 OMIM mapping confirmed by DO. [SN]. Burkitt lymphoma 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 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. GARD:2721 ICD10CM:D81.818 MESH:D028922 NCI:C98842 OMIM:253270 SNOMEDCT_US_2023_03_01:15307001 UMLS_CUI:C0268581 Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset disease_ontology DOID:859 OMIM mapping confirmed by DO. [SN]. holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency ICD9CM:557.0 NCI:C34356 SNOMEDCT_US_2023_03_01:91489000 UMLS_CUI:C0001363 acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency disease_ontology DOID:8590 acute vascular insufficiency of intestine DOID:9194 ICD10CM:C93.1 ICD9CM:206.1 MESH:D007951 NCI:C34774 SNOMEDCT_US_2023_03_01:46236001 UMLS_CUI:C0023466 disease_ontology DOID:8593 chronic monocytic leukemia 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:8597 ICD10CM:A38 ICD9CM:034 ICD9CM:034.1 MESH:D012541 NCI:C94575 SNOMEDCT_US_2023_03_01:154301006 SNOMEDCT_US_2023_03_01:154303009 UMLS_CUI:C0036285 UMLS_CUI:C0343487 Scarlatina disease_ontology DOID:8596 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever DOID:8734 ICD10CM:C03 ICD9CM:143 NCI:C9317 SNOMEDCT_US_2023_03_01:93819009 UMLS_CUI:C0153364 malignant Gingival tumor malignant neoplasm of gum malignant neoplasm of other sites of gum malignant tumor of gum malignant tumour of gingiva disease_ontology DOID:8602 gum cancer 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. ICD9CM:054.6 NCI:C128402 SNOMEDCT_US_2023_03_01:43891009 UMLS_CUI:C0153042 Herpetic felon disease_ontology DOID:8607 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. url:http://en.wikipedia.org/wiki/Herpetic_whitlow GARD:7379 ICD10CM:N48.6 ICD9CM:607.85 MESH:D010411 NCI:C3316 OMIM:171000 SNOMEDCT_US_2023_03_01:155931002 UMLS_CUI:C0030848 Induratio penis plastica Peyronie disease Peyronie's Fibromatosis disease_ontology DOID:8616 OMIM mapping confirmed by DO. [SN]. Peyronie's disease A gastrointestinal system cancer that is located_in the oral cavity. DOID:0050627 DOID:8617 DOID:9049 DOID:9055 GARD:9360 ICD10CM:C04 ICD10CM:C04.0 ICD10CM:C04.1 ICD9CM:144 ICD9CM:144.0 ICD9CM:144.1 NCI:C9318 SNOMEDCT_US_2023_03_01:93672006 SNOMEDCT_US_2023_03_01:93802007 SNOMEDCT_US_2023_03_01:93860002 UMLS_CUI:C0153368 UMLS_CUI:C0153369 UMLS_CUI:C0496758 malignant neoplasm of floor of mouth disease_ontology DOID:8618 oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity. url:http://en.wikipedia.org/wiki/Oral_cancer 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:8963 DOID:9112 GARD:3434 ICD10CM:B05 ICD9CM:055 MESH:D008457 NCI:C96406 SNOMEDCT_US_2023_03_01:154338006 UMLS_CUI:C0025007 morbilli disease_ontology DOID:8622 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. url:http://en.wikipedia.org/wiki/Measles DOID:9047 ICD10CM:C81.3 ICD9CM:201.7 MESH:D006689 NCI:C9283 SNOMEDCT_US_2023_03_01:112687003 UMLS_CUI:C0152267 Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma disease_ontology DOID:8628 Hodgkin's lymphoma, lymphocytic depletion A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. ICD10CM:G98 ICD9CM:349.9 MESH:D009422 NCI:C26835 SNOMEDCT_US_2023_03_01:155262005 UMLS_CUI:C0027765 disease_ontology DOID:863 nervous system disease 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 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). 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 GARD:6814 ICD10CM:C46 ICD10CM:C46.0 ICD10CM:C46.1 ICD10CM:C46.2 ICD10CM:C46.3 ICD10CM:C46.4 ICD10CM:C46.5 ICD9CM:176 ICD9CM:176.0 ICD9CM:176.1 ICD9CM:176.2 ICD9CM:176.3 ICD9CM:176.4 ICD9CM:176.5 MESH: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 SNOMEDCT_US_2023_03_01:109385007 SNOMEDCT_US_2023_03_01:109388009 SNOMEDCT_US_2023_03_01:109390005 SNOMEDCT_US_2023_03_01:188029000 SNOMEDCT_US_2023_03_01:188144002 SNOMEDCT_US_2023_03_01:188775002 SNOMEDCT_US_2023_03_01:255114007 SNOMEDCT_US_2023_03_01:255115008 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 Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues 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 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 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 disease_ontology African lymphadenopathic Kaposi's sarcoma Kaposi's sarcoma-associated herpesvirus (KSHV) DOID:8632 OMIM mapping confirmed by DO. [SN]. 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). url:http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma ICD10CM:C05.2 ICD9CM:145.4 NCI:C35177 SNOMEDCT_US_2023_03_01:94129007 UMLS_CUI:C0153377 malignant Uvular tumor malignant tumor of uvula disease_ontology DOID:8635 uvula cancer A vein disease that is characterized by inflammation of a vein. ICD10CM:I80 MESH:D010689 NCI:C38003 SNOMEDCT_US_2023_03_01:61599003 UMLS_CUI:C0031542 disease_ontology DOID:864 phlebitis A vein disease that is characterized by inflammation of a vein. url:http://en.wikipedia.org/wiki/Phlebitis DOID:8897 DOID:8983 ICD10CM:K29.8 ICD9CM:535.6 MESH:D004382 NCI:C94409 SNOMEDCT_US_2023_03_01:155715004 UMLS_CUI:C0013298 Hemorrhagic duodenitis disease_ontology DOID:8643 duodenitis DOID:8648 DOID:8779 DOID:8900 DOID:8940 DOID:8999 DOID:9058 DOID:9068 DOID:9196 GARD:7779 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 MESH:D014062 NCI:C3524 NCI:C9345 SNOMEDCT_US_2023_03_01:187644001 SNOMEDCT_US_2023_03_01:363376007 SNOMEDCT_US_2023_03_01:363377003 SNOMEDCT_US_2023_03_01:93773005 SNOMEDCT_US_2023_03_01:94100005 SNOMEDCT_US_2023_03_01:94101009 SNOMEDCT_US_2023_03_01:94134006 UMLS_CUI:C0153349 UMLS_CUI:C0153350 UMLS_CUI:C0153351 UMLS_CUI:C0153356 UMLS_CUI:C0474963 UMLS_CUI:C0496755 UMLS_CUI:C0684333 malignant neoplasm of tongue disease_ontology DOID:8649 tongue cancer A vascular disease that is characterized by inflammation of the blood vessels. GARD:9565 MESH:D014657 NCI:C26912 SNOMEDCT_US_2023_03_01:195375002 UMLS_CUI:C0042384 Angiitis disease_ontology DOID:865 vasculitis 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 ICD10CM:C81.2 ICD9CM:201.6 MESH:D006689 NCI:C3517 SNOMEDCT_US_2023_03_01:118609008 UMLS_CUI:C0152266 Hodgkin's disease, mixed cellularity disease_ontology DOID:8654 Hodgkin's lymphoma, mixed cellularity 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:8693 DOID:9243 ICD10CM:B01.9 ICD9CM:052 MESH:D002644 NCI:C97132 SNOMEDCT_US_2023_03_01:186508005 UMLS_CUI:C0008049 varicella disease_ontology DOID:8659 chickenpox MESH:D002644 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 ICD10CM:C13.0 ICD9CM:148.0 NCI:C9323 SNOMEDCT_US_2023_03_01:93967000 UMLS_CUI:C0496769 malignant Postcricoid tumor malignant tumor of pharyngoesophageal junction disease_ontology DOID:8660 postcricoid region cancer A cholesteatoma located_in paranasal sinus. NCI:C35868 UMLS_CUI:C1334644 disease_ontology DOID:867 maxillary sinus cholesteatoma A cholesteatoma located_in paranasal sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/1503726 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. ICD10CM:F50 ICD9CM:307.50 MESH:D001068 NCI:C89332 SNOMEDCT_US_2023_03_01:72366004 UMLS_CUI:C0013473 disease_ontology DOID:8670 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. url:http://en.wikipedia.org/wiki/Eating_disorder DOID:8957 DOID:9154 ICD10CM:K29.2 ICD9CM:535.3 NCI:C26977 SNOMEDCT_US_2023_03_01:155714000 UMLS_CUI:C0156076 Alcoholic gastritis, with hemorrhage Alcoholic gastritis, without mention of hemorrhage disease_ontology DOID:8680 alcoholic gastritis ICD9CM:357.3 MESH:D020364 NCI:C3981 SNOMEDCT_US_2023_03_01:77659000 UMLS_CUI:C0270932 disease_ontology DOID:8681 paraneoplastic polyneuropathy DOID:8682 DOID:8848 GARD:12763 ICD10CM:C92.3 ICDO:9930/3 MESH:D023981 NCI:C35815 SNOMEDCT_US_2023_03_01:188738007 UMLS_CUI:C0152276 Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma disease_ontology DOID:8683 myeloid sarcoma A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. DOID:8686 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 ICD9CM:232 ICD9CM:232.0 ICD9CM:232.2 ICD9CM:232.3 ICD9CM:232.4 ICD9CM:232.5 ICD9CM:232.6 ICD9CM:232.7 NCI:C3640 SNOMEDCT_US_2023_03_01:189276007 SNOMEDCT_US_2023_03_01:189291009 SNOMEDCT_US_2023_03_01:189295000 SNOMEDCT_US_2023_03_01:190179004 SNOMEDCT_US_2023_03_01:255144005 SNOMEDCT_US_2023_03_01:92735004 SNOMEDCT_US_2023_03_01:92747005 SNOMEDCT_US_2023_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 Cutaneous carcinoma in situ disease_ontology carcinoma in situ of skin DOID:8687 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. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ 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. ICD10CM:F50.0 ICD9CM:307.1 MESH:D000856 NCI:C34387 SNOMEDCT_US_2023_03_01:192445002 UMLS_CUI:C0003125 disease_ontology DOID:8689 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. url:http://en.wikipedia.org/wiki/Anorexia_nervosa A keratosis that is 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. GARD:10422 ICD10CM:H71.9 ICD9CM:385.30 MESH:D002781 NCI:C2944 SNOMEDCT_US_2023_03_01:155244001 UMLS_CUI:C0008373 disease_ontology DOID:869 cholesteatoma A keratosis that is 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. url:https://en.wikipedia.org/wiki/Cholesteatoma url:https://www.ncbi.nlm.nih.gov/pubmed/26223725 DOID:8737 GARD:3863 ICD10CM:C84.0 ICD9CM:202.1 ICDO:9700/3 MESH:D009182 NCI:C3246 OMIM:254400 SNOMEDCT_US_2023_03_01:118618005 UMLS_CUI:C0026948 mycosis fungoides lymphoma disease_ontology DOID:8691 OMIM mapping confirmed by DO. [SN]. mycosis fungoides A leukemia that is located_in myeloid tissue. DOID:8878 DOID:8879 DOID:8910 DOID:9066 DOID:9126 GARD:8226 ICD10CM:C92 ICD9CM:205 ICDO:9860/3 MESH:D007951 NCI:C3172 SNOMEDCT_US_2023_03_01:269631008 UMLS_CUI:C0023470 Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia disease_ontology DOID:8692 myeloid leukemia A leukemia that is located_in myeloid tissue. url:http://en.wikipedia.org/wiki/Myeloid_leukemia A nervous system disease that is located_in nerves or nerve cells. ICD10CM:G62.9 NCI:C4731 SNOMEDCT_US_2023_03_01:42658009 UMLS_CUI:C0442874 peripheral neuropathy disease_ontology DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells. url:http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 ICD10CM:C06.0 ICD9CM:145.0 NCI:C9320 SNOMEDCT_US_2023_03_01:93735006 UMLS_CUI:C0153373 malignant neoplasm of buccal mucosa malignant neoplasm of cheek, inner aspect malignant neoplasm of the Buccal Mucosa malignant tumor of buccal mucosa disease_ontology DOID:8702 cheek mucosa cancer 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:8982 ICD9CM:054.1 MESH:D006558 NCI:C14364 SNOMEDCT_US_2023_03_01:154333002 UMLS_CUI:C0019342 Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes disease_ontology DOID:8704 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. url:http://www.cdc.gov/std/herpes/stdfact-herpes.htm DOID:14750 DOID:8711 DOID:9137 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 ORDO:634518 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 disease_ontology DOID:8712 This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253). neurofibromatosis ORDO:634518 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 ICD10CM:Q85.00 A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. DOID:8808 DOID:9002 DOID:9029 DOID:9129 ICD10CM:L89 ICD9CM:707.0 MESH:D003668 NCI:C50706 SNOMEDCT_US_2023_03_01:1163215007 UMLS_CUI:C4554531 Decubitus (pressure) ulcer Decubitus ulcer any site pressure sores pressure ulcer disease_ontology bedsore DOID:8717 decubitus ulcer A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. url:https://pubmed.ncbi.nlm.nih.gov/37590857/ url:https://www.ncbi.nlm.nih.gov/books/NBK553107/ A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. DOID:8793 DOID:8821 ICD10CM:D09.9 ICD9CM:230-234.99 MESH:D002278 NCI:C2917 SNOMEDCT_US_2023_03_01:189208007 UMLS_CUI:C0007099 disease_ontology DOID:8719 in situ carcinoma 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 A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. DOID:13915 ICD10CM:F01 ICD9CM:290.4 MESH:D015140 MESH:D015161 NCI:C34522 NCI:C34525 SNOMEDCT_US_2023_03_01:192165000 SNOMEDCT_US_2023_03_01:56267009 UMLS_CUI:C0011263 UMLS_CUI:C0011269 Multi Infarct Dementia multifocal dementia disease_ontology DOID:8725 vascular dementia 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 A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. ICD10CM:C75.4 ICD9CM:194.5 NCI:C3574 SNOMEDCT_US_2023_03_01:93740003 UMLS_CUI:C0153656 malignant Carotid body Paraganglioma malignant carotid body tumor disease_ontology cancer of carotid body DOID:8731 carotid body cancer 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 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. GARD:7444 ICD10CM:B03 ICD9CM:050 MESH:D012899 NCI:C35027 SNOMEDCT_US_2023_03_01:266193008 UMLS_CUI:C0037354 Ordinary smallpox disease_ontology DOID:8736 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. url:http://www.who.int/csr/disease/smallpox/en/ ICD10CM:N48.0 ICD9CM:607.0 MESH:D052798 NCI:C3151 SNOMEDCT_US_2023_03_01:266639006 UMLS_CUI:C0022782 Kraurosis of penis Penile Leukoplakia disease_ontology DOID:8738 leukoplakia of penis A pneumonia involving inflammation of the lungs caused by bacteria. DOID:13815 ICD10CM:J15.9 ICD9CM:482.9 MESH:D018410 NCI:C26704 SNOMEDCT_US_2023_03_01:53084003 UMLS_CUI:C0004626 Pneumonia due to other gram-negative bacteria gram-negative pneumonia disease_ontology DOID:874 bacterial pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. url:http://en.wikipedia.org/wiki/Bacterial_pneumonia 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 ICD10CM:L21 ICD9CM:690.1 MESH:D012628 NCI:C111888 SNOMEDCT_US_2023_03_01:156328004 UMLS_CUI:C0036508 SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea disease_ontology DOID:8741 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. url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm ICD10CM:B08.3 ICD9CM:057.0 MESH:D016731 NCI:C84695 SNOMEDCT_US_2023_03_01:34730008 UMLS_CUI:C0085273 Fifth disease disease_ontology DOID:8743 erythema infectiosum DOID:9134 DOID:9242 ICD10CM:K29.6 ICD9CM:535.2 MESH:D005758 NCI:C67277 OMIM:137280 SNOMEDCT_US_2023_03_01:60002000 UMLS_CUI:C0017155 Giant rugal hypertrophy of stomach MENETRIER DISEASE familial giant hypertrophic gastritis hypertrophic gastritis hypertrophic gastropathy disease_ontology DOID:8757 OMIM mapping confirmed by DO. [SN]. gastric mucosal hypertrophy GARD:4614 ICD10CM:M60.0 ICD9CM:040.81 MESH:D052880 NCI:C128382 SNOMEDCT_US_2023_03_01:186430009 UMLS_CUI:C0041188 Tropical pyomyositis disease_ontology DOID:876 pyomyositis An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. DOID:9009 GARD:524 ICD10CM:C94.2 ICD9CM:207.2 ICDO:9910/3 MESH:D007947 NCI:C3170 SNOMEDCT_US_2023_03_01:52220008 UMLS_CUI:C0023462 Megakaryocytic myelosis Thrombocytic leukaemia disease_ontology DOID:8761 acute megakaryocytic leukemia An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. url:https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia url:https://pubmed.ncbi.nlm.nih.gov/26228843/ url:https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf An intestinal disease that involves inflammation located_in intestine. DOID:8784 DOID:8855 DOID:8942 EFO:0000384 GARD:10232 ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C37262 SNOMEDCT_US_2023_03_01:7620006 UMLS_CUI:C0156147 Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease disease_ontology DOID:8778 MESH:C536215 added from NeuroDevNet [WAK]. Crohn's disease An intestinal disease that involves inflammation located_in intestine. url:http://en.wikipedia.org/wiki/Chron%27s_disease url:https://www.genome.gov/Genetic-Disorders/Crohns-Disease 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:8816 DOID:8909 DOID:9106 DOID:9116 DOID:9162 DOID:9179 GARD:4742 ICD10CM:B06.9 ICD9CM:056 MESH:D012409 NCI:C85051 SNOMEDCT_US_2023_03_01:266192003 UMLS_CUI:C0035920 german measles disease_ontology DOID:8781 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. url:http://en.wikipedia.org/wiki/Rubella An in situ carcinoma that is located_in the trachea. ICD10CM:D02.1 ICD9CM:231.1 NCI:C3639 SNOMEDCT_US_2023_03_01:92772005 UMLS_CUI:C0154070 Tracheal carcinoma In situ carcinoma in situ of trachea disease_ontology DOID:8802 trachea carcinoma in situ An in situ carcinoma that is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/ ICD10CM:I20.0 ICD9CM:411.1 MESH:D000789 NCI:C66911 SNOMEDCT_US_2023_03_01:155308009 UMLS_CUI:C0002965 Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina disease_ontology DOID:8805 intermediate coronary syndrome 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. ICD10CM:B66.8 ICD9CM:121.6 NCI:C128389 SNOMEDCT_US_2023_03_01:22905009 UMLS_CUI:C0152071 heterophyes infectious disease disease_ontology DOID:882 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm 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:932 ICD10CM:B83.9 ICD9CM:120-129.99 MESH:D006373 NCI:C84751 SNOMEDCT_US_2023_03_01:187518006 UMLS_CUI:C0018889 helminth infection helminthiasis helminthosis worm infection disease_ontology DOID:883 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. url:http://en.wikipedia.org/wiki/Helminth url:http://en.wikipedia.org/wiki/Helminthiasis ICD10CM:C81.1 ICD9CM:201.5 NCI:C3518 SNOMEDCT_US_2023_03_01:52248008 UMLS_CUI:C0152268 Classical Hodgkin lymphoma, nodular sclerosis disease_ontology DOID:8838 Hodgkin's lymphoma, nodular sclerosis 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. ICD10CM:B66.8 ICD9CM:121.5 MESH:D014201 NCI:C128390 SNOMEDCT_US_2023_03_01:37832003 UMLS_CUI:C0025530 Infection by Metagonimus yokogawai disease_ontology DOID:884 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm A salivary gland cancer that is located_in the sublingual gland. ICD10CM:C08.1 ICD9CM:142.2 NCI:C3527 SNOMEDCT_US_2023_03_01:94076001 UMLS_CUI:C0153361 malignant tumor of sublingual gland malignant tumor of the Sublingual gland disease_ontology DOID:8849 sublingual gland cancer A salivary gland cancer that is located_in the sublingual gland. url:http://en.wikipedia.org/wiki/Sublingual_gland 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. GARD:6428 ICD10CM:B66.3 ICD9CM:121.3 MESH:D005211 NCI:C128387 SNOMEDCT_US_2023_03_01:187125007 UMLS_CUI:C0015652 Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection disease_ontology DOID:885 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. ICD10CM:L93 ICD9CM:695.4 NCI:C27153 SNOMEDCT_US_2023_03_01:200936003 UMLS_CUI:C0409974 lupus disease_ontology DOID:8857 lupus erythematosus An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. url:https://www.ncbi.nlm.nih.gov/pubmed/29366725 ICD10CM:C09 ICD9CM:146.0 MESH:D014067 NCI:C7404 SNOMEDCT_US_2023_03_01:93937006 UMLS_CUI:C0751560 malignant Tonsillar tumor malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of tonsil, faucial malignant tumor of tonsil disease_ontology DOID:8858 tonsil cancer ICD10CM:Q24.3 ICD9CM:746.83 MESH:D011662 NCI:C34961 SNOMEDCT_US_2023_03_01:204370002 UMLS_CUI:C0034084 Congenital Infundibular Stenosis Infundibular pulmonic stenosis Infundibular pulmonic stenosis, congenital Subvalvular pulmonic stenosis pulmonary infundibular stenosis disease_ontology DOID:8861 pulmonary subvalvular stenosis ICD10CM:L57.0 ICD9CM:702.0 ICDO:8070/0 MESH:D055623 NCI:C3148 SNOMEDCT_US_2023_03_01:267858008 UMLS_CUI:C0022602 SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis disease_ontology DOID:8866 actinic keratosis 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. ICD10CM:B08.1 ICD9CM:078.0 MESH:D008976 NCI:C155872 SNOMEDCT_US_2023_03_01:154360009 UMLS_CUI:C0026393 disease_ontology DOID:8867 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. url:http://en.wikipedia.org/wiki/Molluscum_contagiosum url:http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). EFO:0004256 GARD:6267 ICD10CM:G36.0 ICD9CM:341.0 MESH:D009471 NCI:C84934 SNOMEDCT_US_2023_03_01:25044007 UMLS_CUI:C0027873 Devic's disease Devic's syndrome disease_ontology DOID:8869 neuromyelitis optica A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). url:http://en.wikipedia.org/wiki/Neuromyelitis_optica url:http://rarediseases.org/rare-diseases/neuromyelitis-optica/ An in situ carcinoma that is located_in the penis. ICD10CM:D07.4 ICD9CM:233.5 NCI:C27790 SNOMEDCT_US_2023_03_01:92679008 UMLS_CUI:C0154089 Bowen's disease of penis Penile intraepithelial neoplasia grade III Queyrat's erythroplasia carcinoma in situ of penis grade III squamous Intraepithelial Lesion of penis disease_ontology DOID:8872 penis carcinoma in situ An in situ carcinoma that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pubmed/8126803 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. ICD10CM:B66.5 ICD9CM:121.4 MESH:D014201 NCI:C128388 SNOMEDCT_US_2023_03_01:54266002 UMLS_CUI:C0015656 Infection by Fasciolopsis buski Infectious Disease by Fasciolopsis disease_ontology DOID:888 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm ICD10CM:L71 ICD9CM:695.3 MESH:D012393 NCI:C97136 SNOMEDCT_US_2023_03_01:1612004 UMLS_CUI:C0035854 Acne roscea Acne, erythematosa disease_ontology DOID:8881 rosacea GARD:6060 ICD10CM:H30.9 ICD9CM:363.20 MESH:D002825 NCI:C110923 SNOMEDCT_US_2023_03_01:270531006 UMLS_CUI:C0008513 retinochoroiditis disease_ontology DOID:8886 chorioretinitis A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. ICD10CM:L42 ICD9CM:696.3 MESH:D017515 NCI:C26855 SNOMEDCT_US_2023_03_01:156373006 UMLS_CUI:C0032026 Pityriasis circinata disease_ontology DOID:8892 pityriasis rosea A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. url:https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405 A skin disease that is characterized by patches of thick red skin and silvery scales. EFO:0000676 GARD:10262 ICD10CM:L40 MESH:D011565 NCI:C3346 OMIM:PS177900 SNOMEDCT_US_2023_03_01:156369008 UMLS_CUI:C0033860 disease_ontology DOID:8893 Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860. psoriasis A skin disease that is characterized by patches of thick red skin and silvery scales. url:https://www.cdc.gov/psoriasis/index.htm A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. GARD:7140 MESH:D020191 NCI:C7636 OMIM:310370 OMIM:PS254800 SNOMEDCT_US_2023_03_01:192844008 UMLS_CUI:C0751778 PME progressive myoclonic epilepsy disease_ontology DOID:891 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. progressive myoclonus epilepsy NCI:C7636 A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. url:http://pn.bmj.com/content/15/3/164.long 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. ICD10CM:B35 ICD9CM:110 NCI:C26745 SNOMEDCT_US_2023_03_01:154394006 UMLS_CUI:C0011636 disease_ontology DOID:8913 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. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. ICD10CM:N89.4 ICD9CM:623.1 NCI:C3663 SNOMEDCT_US_2023_03_01:111420009 UMLS_CUI:C0156385 vaginal Leukoplakia disease_ontology DOID:8920 leukoplakia of vagina A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. url:https://en.wikipedia.org/wiki/Leukoplakia A skin cancer that has_material_basis_in melanocytes. DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:612263 SNOMEDCT_US_2023_03_01:269577007 UMLS_CUI:C0151779 cutaneous melanoma 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 disease_ontology DOID:8923 OMIM IDs, OMIM:612263 and OMIM:608035 represent susceptibility loci[LS]. skin 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 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. DOID:0050124 DOID:2220 ICD10CM:D69.3 ICD9CM:287.31 MESH:D016553 NCI:C3446 OMIM:188030 SNOMEDCT_US_2023_03_01:234490009 UMLS_CUI:C0398650 Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura disease_ontology Ideopath thrombocytopenic pur Idiopathic purpura werlhof's disease DOID:8924 OMIM mapping confirmed by DO. [SN]. autoimmune thrombocytopenic purpura A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. url:https://rarediseases.org/rare-diseases/immune-thrombocytopenia/ sn:IEDB 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. DOID:2847 ICD10CM:F81.9 MESH:D007859 NCI:C89334 SNOMEDCT_US_2023_03_01:1855002 SNOMEDCT_US_2023_03_01:192531005 UMLS_CUI:C0023186 UMLS_CUI:C0751265 Academic skill disorder learning disorder disease_ontology DOID:8927 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. url:http://en.wikipedia.org/wiki/Learning_disability url:http://www.ldonline.org/ldbasics/whatisld DOID:9048 DOID:9083 ICD10CM:K29.4 ICD9CM:535.1 MESH:D005757 NCI:C7405 SNOMEDCT_US_2023_03_01:155713006 UMLS_CUI:C0017154 gastric atrophy disease_ontology DOID:8929 atrophic gastritis A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. GARD:7893 ICD10CM:E83.01 MESH:D006527 NCI:C84756 OMIM:277900 SNOMEDCT_US_2023_03_01:88518009 UMLS_CUI:C0019202 Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration disease_ontology DOID:893 OMIM mapping confirmed by DO. [SN]. Wilson disease A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. url:https://pubmed.ncbi.nlm.nih.gov/32279718/ url:https://www.genome.gov/Genetic-Disorders/Wilson-Disease GARD:6389 ICD10CM:D69.41 ICD9CM:287.32 MESH:C536380 NCI:C61284 SNOMEDCT_US_2023_03_01:75331009 UMLS_CUI:C0272126 disease_ontology DOID:8931 Evans' syndrome A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. ICD10CM:M72.2 ICD9CM:728.71 MESH:D000071380 NCI:C4680 SNOMEDCT_US_2023_03_01:240032001 UMLS_CUI:C0158360 Dupuytren's contracture of foot Ledderhose's disease disease_ontology DOID:8936 plantar fascial fibromatosis A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. url:https://en.wikipedia.org/wiki/Plantar_fibromatosis ICD9CM:362.0 MESH:D003930 NCI:C34538 SNOMEDCT_US_2023_03_01:154678005 UMLS_CUI:C0011884 Retinal abnormality - diabetes-related disease_ontology DOID:8947 diabetic retinopathy An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). GARD:667 ICD10CM:D64.3 ICD9CM:285.0 MESH:D000756 NCI:C36078 OMIM:PS300751 SNOMEDCT_US_2023_03_01:154810008 UMLS_CUI:C0002896 ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading disease_ontology DOID:8955 sideroblastic anemia 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 A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. GARD:7708 ICD10CM:A81.1 ICD9CM:046.2 MESH:D013344 NCI:C85171 OMIM:260470 SNOMEDCT_US_2023_03_01:84196008 UMLS_CUI:C0038522 Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy disease_ontology DOID:8970 subacute sclerosing panencephalitis A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. url:http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. GARD:7419 ICD10CM:Q61.3 ICD9CM:753.12 MESH:D007690 NCI:C75464 ORDO:730 SNOMEDCT_US_2023_03_01:204955006 UMLS_CUI:C0022680 ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 disease_ontology DOID:898 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease. autosomal dominant polycystic kidney disease A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. url:https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 url:https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease url:https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. DOID:8985 GARD:7162 ICD10CM:G47.41 ICD9CM:347.0 MESH:D009290 NCI:C84489 OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250 ORDO:2073 SNOMEDCT_US_2023_03_01:155059003 UMLS_CUI:C0027404 Narcolepsy, without cataplexy paroxysmal sleep disease_ontology DOID:8986 Xref MGI. narcolepsy 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 A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. GARD:9229 ICD10CM:Q44.4 MESH:D015529 NCI:C2943 OMIM:603003 ORDO:480501 SNOMEDCT_US_2023_03_01:30533003 UMLS_CUI:C0008340 Congenital choledochal cyst bile duct cyst biliary cyst disease_ontology DOID:899 choledochal cyst A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. url:https://pubmed.ncbi.nlm.nih.gov/35212316/ url:https://www.ncbi.nlm.nih.gov/books/NBK557762/ A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. DOID:11868 GARD:7422 ICD10CM:D45 ICD9CM:207.1 ICD9CM:238.4 ICDO:9950/3 MESH:D011087 NCI:C3336 OMIM:263300 SNOMEDCT_US_2023_03_01:154644004 SNOMEDCT_US_2023_03_01:188753004 UMLS_CUI:C0032463 UMLS_CUI:C0152272 Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia disease_ontology DOID:8997 OMIM mapping confirmed by DO. [SN]. polycythemia vera A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. url:https://en.wikipedia.org/wiki/Polycythemia_vera url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera url:https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850 A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. DOID:7943 EFO:0004994 NCI:C27156 SNOMEDCT_US_2023_03_01:156633005 UMLS_CUI:C0410606 cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease disease_ontology DOID:90 degenerative disc 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 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. GARD:7711 ICD9CM:798.0 MESH:D013398 NCI:C85173 OMIM:272120 SNOMEDCT_US_2023_03_01:51178009 UMLS_CUI:C0038644 Cot death Crib death SIDS Sudden death of nonspecific cause in infancy disease_ontology DOID:9007 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. 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 An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. EFO:0003778 ICD10CM:L40.5 ICD9CM:696.0 MESH:D015535 NCI:C61277 SNOMEDCT_US_2023_03_01:33339001 UMLS_CUI:C0003872 arthritis psoriatica arthropathic psoriasis disease_ontology psoriatic arthropathy DOID:9008 psoriatic arthritis An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. url:http://en.wikipedia.org/wiki/Psoriatic_arthropathy url:http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 url:http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm url:https://ghr.nlm.nih.gov/condition/psoriatic-arthritis NCI:C4949 UMLS_CUI:C1112746 Lymphoma of Liver disease_ontology DOID:901 liver lymphoma ICD9CM:530.83 NCI:C3953 SNOMEDCT_US_2023_03_01:89057003 UMLS_CUI:C0267095 Leukoplakia of esophagus disease_ontology DOID:9021 esophageal leukoplakia NCI:C38162 SNOMEDCT_US_2023_03_01:449072004 UMLS_CUI:C0740372 disease_ontology DOID:903 gastrointestinal lymphoma A salivary gland cancer that is located_in the parotid gland. ICD10CM:C07 ICD9CM:142.0 MESH:D010307 NCI:C3525 SNOMEDCT_US_2023_03_01:93949007 UMLS_CUI:C0747273 cancer of parotid gland malignant neoplasm of the Parotid malignant tumor of parotid gland parotid cancer disease_ontology DOID:9036 parotid gland cancer A salivary gland cancer that is located_in the parotid gland. url:http://en.wikipedia.org/wiki/Parotid_gland ICD10CM:N84.0 ICD9CM:621.0 NCI:C3662 SNOMEDCT_US_2023_03_01:266659005 UMLS_CUI:C0156369 endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus disease_ontology DOID:9042 polyp of corpus uteri A cervix disease that is characterized by the presence of a hyperkeratotic lesion. ICD10CM:N88.0 ICD9CM:622.2 NCI:C3976 SNOMEDCT_US_2023_03_01:50923006 UMLS_CUI:C0269194 Leukoplakia of cervix Leukoplakia of cervix uteri Leukoplakia of the uterine Cervix disease_ontology DOID:9043 uterine cervix leukoplakia A cervix disease that is characterized by the presence of a hyperkeratotic lesion. url:https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. GARD:7917 ICD10CM:E71.510 MESH:D015211 NCI:C85239 ORDO:912 SNOMEDCT_US_2023_03_01:88469006 UMLS_CUI:C0043459 cerebrohepatorenal syndrome congenital iron overload disease_ontology DOID:905 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Zellweger syndrome A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and 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 An inherited metabolic disorder that involves peroxisome malfunction. ICD10CM:E71.5 ICD9CM:277.86 MESH:D018901 NCI:C85005 SNOMEDCT_US_2023_03_01:238059005 UMLS_CUI:C0282528 peroxisomal disorder disease_ontology DOID:906 peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction. url:http://en.wikipedia.org/wiki/Peroxisomal_disorder 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. ICD10CM:B36.0 ICD9CM:111.0 MESH:D014010 NCI:C112833 SNOMEDCT_US_2023_03_01:56454009 UMLS_CUI:C0040262 Infection by Pityrosporum furfur disease_ontology DOID:9060 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. url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/ 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_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. ICD10CM:L00 ICD9CM:695.81 MESH:D013206 NCI:C85077 SNOMEDCT_US_2023_03_01:87758007 UMLS_CUI:C0038165 Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type disease_ontology DOID:9063 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_symptom 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 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:9136 GARD:6881 ICD10CM:B55 ICD9CM:085 MESH:D007896 NCI:C34767 ORDO:507 SNOMEDCT_US_2023_03_01:266206004 UMLS_CUI:C0023281 disease_ontology Post Kala-Azar Dermal Leishmaniasis Post-kala-azar dermal leishmaniasis post-kala-azar dermal infectious disease by leishmaniasis DOID:9065 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 NCI:C5752 UMLS_CUI:C1333965 Fibroma of the Liver disease_ontology DOID:907 liver fibroma GARD:9622 ICD10CM:M31.2 ICD9CM:446.3 MESH:D006103 NCI:C8196 SNOMEDCT_US_2023_03_01:58961005 UMLS_CUI:C0018197 Midfacial Necrotising Lesion malignant granuloma of face disease_ontology DOID:9072 lethal midline granuloma 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. GARD:10253 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 MESH:D008180 NCI:C3201 OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 ORDO:536 SNOMEDCT_US_2023_03_01:156450004 UMLS_CUI:C0024141 Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus disease_ontology DOID:9074 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus ls:IEDB An in situ carcinoma that is located_in the anus. ICD9CM:230.6 NCI:C157575 SNOMEDCT_US_2023_03_01:92537005 UMLS_CUI:C0154064 anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus disease_ontology DOID:9087 anal carcinoma in situ An in situ carcinoma that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/ GARD:7328 ICD10CM:L41 ICD9CM:696.2 MESH:D010267 NCI:C3312 SNOMEDCT_US_2023_03_01:267851002 UMLS_CUI:C0030491 disease_ontology DOID:9088 parapsoriasis DOID:9215 ICD9CM:690 NCI:C34591 SNOMEDCT_US_2023_03_01:200762004 UMLS_CUI:C0014747 Other erythematosquamous dermatosis disease_ontology DOID:9097 erythematosquamous dermatosis DOID:909 ICD10CM:C71.4 ICD9CM:191.4 NCI:C5574 SNOMEDCT_US_2023_03_01:126957005 SNOMEDCT_US_2023_03_01:93928006 UMLS_CUI:C0153638 UMLS_CUI:C1263889 malignant neoplasm of occipital lobe neoplasm of occipital lobe tumor of Occipital Lobe disease_ontology DOID:910 occipital lobe neoplasm A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. DOID:13553 DOID:9110 DOID:9122 DOID:9167 ICD10CM:B55.1 MESH:D016773 NCI:C34768 SNOMEDCT_US_2023_03_01:240637006 UMLS_CUI:C0023283 Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis disease_ontology DOID:9111 cutaneous leishmaniasis 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 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. GARD:9532 ICD10CM:A58 ICD9CM:099.2 MESH:D006100 NCI:C3065 SNOMEDCT_US_2023_03_01:186947000 UMLS_CUI:C0018190 donovanosis pudendal ulcer disease_ontology DOID:9113 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://en.wikipedia.org/wiki/Granuloma_inguinale 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. DOID:9118 DOID:9171 GARD:12757 ICD10CM:C92.0 ICD9CM:205.0 ICDO:9861/3 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 SNOMEDCT_US_2023_03_01:17788007 UMLS_CUI:C0023467 AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia disease_ontology DOID:9119 OMIM mapping confirmed by DO. [SN]. 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. url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:http://www.cancer.gov/dictionary?cdrid=44363 url:https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. ICD10CM:E85 ICD9CM:277.3 MESH:D000686 NCI:C2868 SNOMEDCT_US_2023_03_01:154769007 UMLS_CUI:C0002726 amyloid disease disease_ontology DOID:9120 amyloidosis has both inherited and aquired subtypes [LS]. amyloidosis MESH:D000686 A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. url:https://en.wikipedia.org/wiki/Amyloidosis url:https://pubmed.ncbi.nlm.nih.gov/33100054/ url:https://pubmed.ncbi.nlm.nih.gov/33787033/ url:https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true 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 ICD10CM:B00.0 ICD9CM:054.0 ICD9CM:054.41 MESH:D007617 NCI:C35620 SNOMEDCT_US_2023_03_01:186544000 SNOMEDCT_US_2023_03_01:52464003 UMLS_CUI:C0153037 UMLS_CUI:C0854331 UMLS_CUI:C0936250 Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis disease_ontology DOID:9123 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. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/ A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. MESH:D020966 NCI:C84574 UMLS_CUI:C0752352 disease_ontology DOID:913 atrophic muscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574 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. ICD10CM:B55.0 ICD9CM:085.0 MESH:D007898 NCI:C34771 OMIM:608207 OMIM:611381 OMIM:611382 SNOMEDCT_US_2023_03_01:48115004 UMLS_CUI:C0023290 Infection by visceral leishmaniasis Kala-Azar disease_ontology DOID:9146 Xref MGI. 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. url:http://en.wikipedia.org/wiki/Visceral_leishmaniasis url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm ICD10CM:C05.0 ICD9CM:145.2 NCI:C3528 SNOMEDCT_US_2023_03_01:93822006 UMLS_CUI:C0153375 malignant neoplasm of hard palate malignant tumor of hard palate malignant tumour of hard palate disease_ontology DOID:9149 hard palate cancer A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.1 MESH:D012899 NCI:C34365 SNOMEDCT_US_2023_03_01:72294005 UMLS_CUI:C0001906 Alastrim cottonpox milkpox whitepox disease_ontology DOID:9153 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. url:https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox DOID:692 NCI:C7103 NCI:C7106 UMLS_CUI:C1333419 UMLS_CUI:C1333976 epithelial hepatic and intrahepatic bile duct neoplasm disease_ontology DOID:916 liver benign neoplasm 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. ICD10CM:K22.0 ICD9CM:530.0 MESH:D004931 NCI:C84699 OMIM:200400 SNOMEDCT_US_2023_03_01:17460002 UMLS_CUI:C0014848 Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter disease_ontology DOID:9164 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. url:http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). ICD10CM:D82.0 ICD9CM:279.12 MESH:D014923 NCI:C3448 OMIM:301000 SNOMEDCT_US_2023_03_01:36070007 UMLS_CUI:C0043194 Wiskott syndrome disease_ontology DOID:9169 OMIM mapping confirmed by DO. [SN]. Wiskott-Aldrich syndrome A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). url:https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome NCI:C5753 UMLS_CUI:C1333968 leiomyoma of the Liver disease_ontology DOID:917 liver leiomyoma ICD10CM:C08.0 ICD9CM:142.1 NCI:C3526 SNOMEDCT_US_2023_03_01:363380002 UMLS_CUI:C0153360 malignant neoplasm of submaxillary gland malignant tumor of submandibular gland malignant tumor of the Submandibular gland disease_ontology DOID:9173 submandibular gland cancer NCI:C5858 SNOMEDCT_US_2023_03_01:717329009 UMLS_CUI:C1333967 Inflammatory Pseudotumor of the Liver disease_ontology DOID:918 liver inflammatory pseudotumor 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 GARD:652 ICD10CM:A06 ICD9CM:006 MESH:D000562 NCI:C84551 SNOMEDCT_US_2023_03_01:387754006 UMLS_CUI:C0002438 amoebiasis entamoebiasis disease_ontology chronic intestinal amebiasis DOID:9181 amebiasis MESH:D000562 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 An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. GARD:7352 ICD10CM:L10 ICD9CM:694.4 MESH:D010392 NCI:C34909 SNOMEDCT_US_2023_03_01:156355008 UMLS_CUI:C0030807 disease_ontology DOID:9182 pemphigus An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. url:https://en.wikipedia.org/wiki/Pemphigus url:https://medlineplus.gov/pemphigus.html url:https://rarediseases.org/rare-diseases/pemphigus/ A communication disorder that involves difficulty with the act of speech production. MESH:D013064 NCI:C5041 UMLS_CUI:C0037822 disease_ontology DOID:92 speech disorder A communication disorder that involves difficulty with the act of speech production. url:http://en.wikipedia.org/wiki/Speech_disorders 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. GARD:12344 ICD10CM:L43 ICD9CM:697.0 MESH:D008010 NCI:C3189 SNOMEDCT_US_2023_03_01:156377007 UMLS_CUI:C0023646 Lichen, ruber planus lichen ruber planus disease_ontology DOID:9201 lichen planus MESH:D008010 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. url:http://en.wikipedia.org/wiki/Lichen_planus An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. EFO:0000280 GARD:20 ICD10CM:K22.7 ICD9CM:530.85 MESH:D001471 NCI:C2891 OMIM:614266 SNOMEDCT_US_2023_03_01:302914006 UMLS_CUI:C0004763 Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis disease_ontology DOID:9206 Barrett's esophagus An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. url:https://pubmed.ncbi.nlm.nih.gov/21461873/ 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. GARD:7525 ICD10CM:B02.21 ICD9CM:053.11 MESH:D016697 NCI:C84763 SNOMEDCT_US_2023_03_01:21954000 UMLS_CUI:C0017409 Geniculate herpes zoster Herpes zoster auricularis Herpetic geniculate ganglionitis Ramsay Hunt syndrome type 2 Ramsay Hunt syndrome type II Ramsey Hunt syndrome geniculate neuralgia nervus intermedius neuralgia disease_ontology DOID:9210 herpes zoster oticus 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:https://rarediseases.info.nih.gov/diseases/7525/index A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. GARD:7401 ICD10CM:L44.0 ICD9CM:696.4 MESH:D010916 NCI:C85014 OMIM:173200 SNOMEDCT_US_2023_03_01:3755001 UMLS_CUI:C0032027 Devergie's disease disease_ontology DOID:9212 OMIM mapping confirmed by DO. [SN]. pityriasis rubra pilaris A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. url:https://pubmed.ncbi.nlm.nih.gov/29302927/ 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. MESH:D020182 NCI:C116046 OMIM:107640 OMIM:207720 UMLS_CUI:C0520680 primary central sleep apnea disease_ontology central sleep apnea syndrome DOID:9220 Xref MGI. 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/ ICD10CM:C12 ICD9CM:148.1 NCI:C3531 SNOMEDCT_US_2023_03_01:363401000 UMLS_CUI:C0153400 malignant neoplasm of pyriform fossa malignant neoplasm of the Pyriform Fossa malignant tumor of pyriform fossa disease_ontology DOID:9235 pyriform sinus cancer A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. GARD:6377 ICD10CM:I73.81 ICD9CM:443.82 MESH:D004916 NCI:C34593 OMIM:133020 SNOMEDCT_US_2023_03_01:238777005 UMLS_CUI:C0014804 erythermalgia disease_ontology DOID:9240 erythromelalgia A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. url:https://en.wikipedia.org/wiki/Erythromelalgia url:https://ghr.nlm.nih.gov/condition/erythromelalgia url:https://rarediseases.org/rare-diseases/erythromelalgia/ A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. GARD:804 ICD10CM:Q44.7 MESH:D016738 NCI:C35139 OMIM:118450 OMIM:610205 ORDO:52 SNOMEDCT_US_2023_03_01:31742004 UMLS_CUI:C0085280 Alagille-Watson syndrome Arteriohepatic dysplasia disease_ontology DOID:9245 OMIM mapping confirmed by DO. [SN]. Alagille syndrome MESH:D016738 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:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. GARD:7305 MESH:D054975 NCI:C84987 OMIM:146510 SNOMEDCT_US_2023_03_01:56677004 UMLS_CUI:C0265220 disease_ontology DOID:9248 OMIM mapping confirmed by DO. [SN]. Pallister-Hall syndrome A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/31011455/ url:https://pubmed.ncbi.nlm.nih.gov/8914745/ url:https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. GARD:5721 MESH:D055673 NCI:C84531 OMIM:200990 SNOMEDCT_US_2023_03_01:715951007 UMLS_CUI:C0796147 ACLS SCHINZEL ACROCALLOSAL SYNDROME Schinzel syndrome 1 disease_ontology DOID:9250 OMIM mapping confirmed by DO. [SN]. acrocallosal syndrome MESH:D055673 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 An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. GARD:5793 ICD10CM:E72.9 ICD9CM:270 MESH:D000592 NCI:C97090 SNOMEDCT_US_2023_03_01:42930003 UMLS_CUI:C0002514 inborn errors of amino acid metabolism disease_ontology DOID:9252 amino acid metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. url:http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism GARD:8598 ICD10CM:C49.A ICDO:8936/3 MESH:D046152 NCI:C3868 OMIM:606764 SNOMEDCT_US_2023_03_01:1187383001 UMLS_CUI:C0238198 GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour disease_ontology DOID:9253 OMIM mapping confirmed by DO. [SN]. gastrointestinal stromal tumor A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. ICD10CM:C94.3 ICDO:9742/3 MESH:D007946 NCI:C3169 SNOMEDCT_US_2023_03_01:110002002 UMLS_CUI:C0023461 disease_ontology DOID:9254 mast-cell leukemia 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 A large intestine cancer that is located_in the colon and/or located_in the rectum. ICD10CM:C18.9 KEGG:05210 MESH:D015179 NCI:C2956 NCI:C4978 OMIM:114500 SNOMEDCT_US_2023_03_01:126837005 SNOMEDCT_US_2023_03_01:93854002 UMLS_CUI:C0009404 UMLS_CUI:C0346629 disease_ontology DOID:9256 Xref MGI. OMIM mapping confirmed by DO. [SN]. colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=444983 A syndrome 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. GARD:5525 MESH:D014849 NCI:C75008 NCI:C85222 OMIM:PS193500 ORDO:3440 ORDO:895 SNOMEDCT_US_2023_03_01:1010606009 SNOMEDCT_US_2023_03_01:190695000 SNOMEDCT_US_2023_03_01:47434006 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898 Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome Waardenburg, types I and/or II disease_ontology DOID:9258 Xref MGI. OMIM mapping confirmed by DO. [SN]. Waardenburg syndrome A syndrome 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 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 GARD:7163 ICD10CM:C11 ICD10CM:C11.0 ICD10CM:C11.1 ICD10CM:C11.2 ICD10CM:C11.3 ICD9CM:147 ICD9CM:147.0 ICD9CM:147.1 ICD9CM:147.2 ICD9CM:147.3 MESH:D009303 NCI:C9321 OMIM:161550 OMIM:607107 ORDO:150 SNOMEDCT_US_2023_03_01:187692001 SNOMEDCT_US_2023_03_01:187693006 SNOMEDCT_US_2023_03_01:187700006 SNOMEDCT_US_2023_03_01:363398003 SNOMEDCT_US_2023_03_01:93919005 SNOMEDCT_US_2023_03_01:94078000 UMLS_CUI:C0153392 UMLS_CUI:C0153393 UMLS_CUI:C0153394 UMLS_CUI:C0153395 UMLS_CUI:C0153396 UMLS_CUI:C0238301 Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer disease_ontology carcinoma of nasopharynx DOID:9261 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. GARD:10770 ICD10CM:E72.11 MESH:D006712 NCI:C84765 OMIM:236200 OMIM:236250 ORDO:394 SNOMEDCT_US_2023_03_01:190709008 UMLS_CUI:C0019880 CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency disease_ontology DOID:9263 Xref MGI. homocystinuria 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 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. GARD:6237 ICD10CM:E72.01 MESH:D003555 NCI:C84664 OMIM:220100 ORDO:214 SNOMEDCT_US_2023_03_01:154738008 UMLS_CUI:C0010691 disease_ontology DOID:9266 OMIM mapping confirmed by DO. [SN]. cystinuria 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 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. GARD:7837 ICD10CM:E72.2 ICD9CM:270.6 MESH:D056806 NCI:C84785 SNOMEDCT_US_2023_03_01:36444000 UMLS_CUI:C0154246 disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect disease_ontology DOID:9267 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. url:http://en.wikipedia.org/wiki/Urea_cycle_disorder An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. GARD:7219 ICD10CM:E72.51 MESH:D020158 NCI:C84937 OMIM:605899 SNOMEDCT_US_2023_03_01:237939006 UMLS_CUI:C0751748 Non-ketotic hyperglycinemia nonketotic hyperglycinemia disease_ontology DOID:9268 OMIM mapping confirmed by DO. [SN]. glycine encephalopathy 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 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. GARD:3228 ICD10CM:E71.0 MESH:D008375 NCI:C34806 OMIM:246900 OMIM:248600 OMIM:615135 ORDO:511 SNOMEDCT_US_2023_03_01:27718001 UMLS_CUI:C0024776 Ketoacidaemia branched chain ketoaciduria disease_ontology dihydrolipoamide dehydrogenase deficiency DOID:9269 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease dihydrolipoamide dehydrogenase deficiency OMIM:246900 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. DOID:0050714 GARD:5775 ICD10CM:E70.29 MESH:D000474 NCI:C84546 OMIM:203500 ORDO:56 SNOMEDCT_US_2023_03_01:24250001 UMLS_CUI:C0002066 Homogentisate 1,2-dioxygenase deficiency alcaptonuria disease_ontology deficiency of homogentisicase DOID:9270 OMIM mapping confirmed by DO. [SN]. alkaptonuria MESH:D000474 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 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. GARD:8391 ICD10CM:E72.4 MESH:D020163 NCI:C84957 OMIM:311250 SNOMEDCT_US_2023_03_01:80908008 UMLS_CUI:C0268542 deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency disease_ontology DOID:9271 OMIM mapping confirmed by DO. [SN]. ornithine carbamoyltransferase deficiency 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 An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. ICD10CM:E72.23 MESH:D020159 NCI:C84639 ORDO:187 SNOMEDCT_US_2023_03_01:15489004 UMLS_CUI:C0175683 ASS deficiency deficiency of citrulline-aspartate ligase disease_ontology DOID:9273 Xref MGI. OMIM mapping confirmed by DO. [SN]. citrullinemia An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. url:http://en.wikipedia.org/wiki/Citrullinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. GARD:2828 ICD10CM:E72.3 MESH:D020167 NCI:C123433 OMIM:238700 OMIM:238710 ORDO:2203 SNOMEDCT_US_2023_03_01:58558003 UMLS_CUI:C0268553 disease_ontology DOID:9274 OMIM mapping confirmed by DO. [SN]. hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. url:http://en.wikipedia.org/wiki/Hyperlysinemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. ICD10CM:E72.21 MESH:D020162 NCI:C84568 OMIM:207800 SNOMEDCT_US_2023_03_01:23501004 UMLS_CUI:C0268548 Arginase deficiency argininemia deficiency of canavanase disease_ontology DOID:9278 OMIM mapping confirmed by DO. [SN]. hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. url:https://www.medlink.com/articles/hyperargininemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. MESH:D020138 NCI:C84770 OMIM:603174 SNOMEDCT_US_2023_03_01:419503008 UMLS_CUI:C0598608 disease_ontology DOID:9279 hyperhomocysteinemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. url:http://en.wikipedia.org/wiki/Hyperhomocysteinemia A urea cycle disorder that involves accumulation of ammonia in the blood. GARD:7269 MESH:D020165 NCI:C84612 OMIM:237300 SNOMEDCT_US_2023_03_01:765329008 UMLS_CUI:C0751753 CPS I deficiency disease_ontology DOID:9280 OMIM mapping confirmed by DO. [SN]. carbamoyl phosphate synthetase I deficiency disease A urea cycle disorder that involves accumulation of ammonia in the blood. url:http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency 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 GARD:7383 ICD9CM:270.1 MESH:D010661 MESH:D017042 NCI:C81315 OMIM:261600 ORDO:716 SNOMEDCT_US_2023_03_01:154735006 SNOMEDCT_US_2023_03_01:297225000 UMLS_CUI:C0031485 UMLS_CUI:C0085547 Folling's disease PKU maternal phenylketonuria phenylalaninemia disease_ontology DOID:9281 OMIM mapping confirmed by DO. [SN]. 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. url:http://en.wikipedia.org/wiki/Phenylketonuria url:https://www.genome.gov/Genetic-Disorders/Phenylketonuria An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. ICD10CM:H40.05 ICD9CM:365.04 MESH:D009798 NCI:C3285 SNOMEDCT_US_2023_03_01:267721003 UMLS_CUI:C0028840 disease_ontology DOID:9282 ocular hypertension An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. url:https://en.wikipedia.org/wiki/Ocular_hypertension A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. GARD:10016 ICD10CM:N48.3 ICD9CM:607.3 MESH:D011317 NCI:C85022 SNOMEDCT_US_2023_03_01:155930001 UMLS_CUI:C0033117 Mentulagra disease_ontology DOID:9286 priapism 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 An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. DOID:9333 EFO:0003959 ICD10CM:Q36 ICD9CM:749.1 ICD9CM:749.11 MESH:D002971 NCI:C87175 SNOMEDCT_US_2023_03_01:156941008 SNOMEDCT_US_2023_03_01:62696001 UMLS_CUI:C0008924 UMLS_CUI:C0158651 Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip disease_ontology DOID:9296 cleft lip An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate url:https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html A mouth disease located_in the lip. ICD10CM:K13.0 ICD9CM:528.5 MESH:D008047 NCI:C26818 SNOMEDCT_US_2023_03_01:90678009 UMLS_CUI:C0023760 disease of lips disease_ontology DOID:9297 lip disease A mouth disease located_in the lip. url:https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes DOID:14536 NCI:C4569 NCI:C5349 SNOMEDCT_US_2023_03_01:126732009 SNOMEDCT_US_2023_03_01:363437005 UMLS_CUI:C0346611 UMLS_CUI:C1290402 malignant Myocardial tumor malignant neoplasm of myocardium tumor of Myocardium disease_ontology DOID:9299 myocardium cancer A communication disorder that involves the processing of linguistic information. ICD10CM:F80.9 MESH:D007806 NCI:C97155 SNOMEDCT_US_2023_03_01:62305002 UMLS_CUI:C0023015 disease_ontology DOID:93 language disorder A communication disorder that involves the processing of linguistic information. url:http://en.wikipedia.org/wiki/Language_disorder NCI:C5359 UMLS_CUI:C1096349 Neurofibroma of Heart disease_ontology DOID:9300 neurofibroma of the heart ICD10CM:K62.3 ICD9CM:569.1 MESH:D012005 NCI:C34973 SNOMEDCT_US_2023_03_01:197214005 UMLS_CUI:C0034888 Procidentia, rectum disease_ontology DOID:9307 rectal prolapse A respiratory system benign neoplasm that arises from the nasal cavity. NCI:C4603 SNOMEDCT_US_2023_03_01:188874008 UMLS_CUI:C0347215 Benign Nasal Cavity Neoplasm neoplasm of nasal cavity tumor of the nasal cavity disease_ontology DOID:9310 nasal cavity benign neoplasm A respiratory system benign neoplasm that arises from the nasal cavity. url:https://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136 A ethmoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.2 ICD9CM:473.2 NCI:C34472 SNOMEDCT_US_2023_03_01:155528009 UMLS_CUI:C0008681 chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic disease_ontology DOID:9312 chronic ethmoiditis 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 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. ICD10CM:I89.1 ICD9CM:457.2 MESH:D008205 NCI:C34790 SNOMEDCT_US_2023_03_01:1415005 UMLS_CUI:C0024225 disease_ontology DOID:9317 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. url:http://en.wikipedia.org/wiki/Lymphangitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis A disease by infectious agent that results in infection, has_material_basis_in Viruses. DOID:1329 ICD10CM:A94 ICD10CM:B34.9 ICD9CM:060-066.99 MESH:D001102 MESH:D014777 NCI:C3439 NCI:C34396 SNOMEDCT_US_2023_03_01:34014006 SNOMEDCT_US_2023_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease virus infection disease_ontology DOID:934 viral infectious disease A disease by infectious agent that results in infection, has_material_basis_in Viruses. url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html ICD10CM:N36.1 ICD9CM:599.2 NCI:C39861 SNOMEDCT_US_2023_03_01:90531003 UMLS_CUI:C0152443 disease_ontology DOID:9341 urethral diverticulum ICD10CM:I77.71 ICD9CM:443.21 NCI:C125662 SNOMEDCT_US_2023_03_01:230729006 UMLS_CUI:C0338585 Dissection of carotid artery disease_ontology DOID:9348 carotid artery dissection A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. DOID:0081062 ICD10CM:E08-E13 ICD9CM:250 MESH:D003920 NCI:C2985 SNOMEDCT_US_2023_03_01:267467004 UMLS_CUI:C0011849 diabetes disease_ontology DOID:9351 diabetes mellitus A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. url:http://www.who.int/diabetes/action_online/basics/en/ url:https://en.wikipedia.org/wiki/Diabetes_mellitus url:https://medlineplus.gov/diabetes.html url:https://www.ncbi.nlm.nih.gov/pubmed/9686693 A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 SNOMEDCT_US_2023_03_01:44054006 UMLS_CUI:C0011860 NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus disease_ontology DOID:9352 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 2 diabetes mellitus A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 A central nervous system disease that is located_in the brain. DOID:8510 ICD10CM:G93.40 ICD10CM:G93.9 ICD9CM:348.30 ICD9CM:348.9 MESH:D001927 NCI:C26920 NCI:C96413 SNOMEDCT_US_2023_03_01:81308009 UMLS_CUI:C0006111 UMLS_CUI:C0085584 encephalopathy disease_ontology DOID:936 brain disease A central nervous system disease that is located_in the brain. url:https://medlineplus.gov/braindiseases.html An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. ICD9CM:493.91 MESH:D013224 NCI:C122577 SNOMEDCT_US_2023_03_01:36979006 UMLS_CUI:C0038218 Asthma with status asthmaticus Severe asthma attack disease_ontology DOID:9362 status asthmaticus An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. url:https://www.ncbi.nlm.nih.gov/books/NBK526070/ url:https://www.ncbi.nlm.nih.gov/pubmed/11399724 DOID:9367 ICD10CM:H16.2 ICD9CM:370.40 MESH:D007637 NCI:C34744 SNOMEDCT_US_2023_03_01:155154005 UMLS_CUI:C0022573 disease_ontology DOID:9368 keratoconjunctivitis An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. ICD10CM:H05.20 ICD9CM:376.30 MESH:D005094 NCI:C87114 SNOMEDCT_US_2022_03_01:155200004 UMLS_CUI:C0015300 proptosis disease_ontology DOID:9370 doid/symp duplicate - reviewed 10/2022 & determined to be a symptom obsolete exophthalmos true An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. url:http://en.wikipedia.org/wiki/Exophthalmos 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 ICD10CM:J04.1 ICD9CM:464.1 MESH:D014136 NCI:C78643 SNOMEDCT_US_2023_03_01:155507000 SNOMEDCT_US_2023_03_01:62994001 UMLS_CUI:C0040584 UMLS_CUI:C0149513 acute tracheitis chronic tracheitis disease_ontology DOID:9392 tracheitis MESH:D014136 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 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. ICD10CM:J05.0 ICD9CM:464.4 MESH:D003440 NCI:C26735 SNOMEDCT_US_2023_03_01:71186008 UMLS_CUI:C0010380 Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis disease_ontology DOID:9395 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. 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 A laryngitis which lasts less than a few days. DOID:12334 ICD10CM:J04.0 ICD9CM:464.0 ICD9CM:464.01 NCI:C26688 SNOMEDCT_US_2023_03_01:155506009 SNOMEDCT_US_2023_03_01:408669002 UMLS_CUI:C0001327 UMLS_CUI:C0949123 disease_ontology DOID:9396 acute laryngitis A laryngitis which lasts less than a few days. url:http://en.wikipedia.org/wiki/Laryngitis 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:9479 DOID:9481 ICD10CM:J05.1 ICD10CM:J05.10 ICD9CM:464.3 MESH:D004826 NCI:C116007 SNOMEDCT_US_2023_03_01:29608009 SNOMEDCT_US_2023_03_01:80384002 UMLS_CUI:C0014541 UMLS_CUI:C0155814 acute epiglottitis acute epiglottitis and supraglottitis disease_ontology DOID:9398 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. url:http://en.wikipedia.org/wiki/Epiglottitis A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. GARD:2917 ICD10CM:E23.0 MESH:D007018 NCI:C62591 OMIM:221750 OMIM:262600 OMIM:262700 OMIM:613038 OMIM:613986 ORDO:95494 SNOMEDCT_US_2023_03_01:74728003 UMLS_CUI:C0020635 Pituitary insufficiency pituitary hormone deficiency disease_ontology Pituitary hypofunction DOID:9406 Xref MGI. hypopituitarism 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 ICD10CM:I21 ICD9CM:410 NCI:C35204 SNOMEDCT_US_2023_03_01:155304006 UMLS_CUI:C0155626 disease_ontology DOID:9408 acute myocardial infarction A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. ICD10CM:E23.2 ICD9CM:253.5 MESH:D003919 NCI:C43263 SNOMEDCT_US_2023_03_01:190484000 UMLS_CUI:C0011848 disease_ontology DOID:9409 diabetes insipidus A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. url:https://pubmed.ncbi.nlm.nih.gov/26913870/ url:https://pubmed.ncbi.nlm.nih.gov/27156759/ url:https://pubmed.ncbi.nlm.nih.gov/28476225/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/ A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. ICD10CM:E23.0 ICD9CM:253.2 MESH:C580003 NCI:C110940 OMIM:PS613038 ORDO:90695 SNOMEDCT_US_2023_03_01:154700009 UMLS_CUI:C0242343 Simmond's disease Simmonds' disease combined pituitary hormone deficiency disease_ontology DOID:9410 panhypopituitarism A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/27828722 An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. DOID:13824 ICD10CM:H01.0 ICD9CM:373.0 ICD9CM:373.4 MESH:D001762 NCI:C112183 SNOMEDCT_US_2023_03_01:193907001 SNOMEDCT_US_2023_03_01:193920003 UMLS_CUI:C0005741 UMLS_CUI:C0155181 disease_ontology DOID:9423 blepharitis 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 ICD10CM:I67.4 ICD9CM:437.2 MESH:D020343 NCI:C3503 SNOMEDCT_US_2023_03_01:155408008 UMLS_CUI:C0151620 disease_ontology DOID:9427 hypertensive encephalopathy A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. MESH:D019586 NCI:C84791 SNOMEDCT_US_2023_03_01:155052007 UMLS_CUI:C0151740 Raised intracranial pressure disease_ontology DOID:9428 intracranial hypertension A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. url:https://en.wikipedia.org/wiki/Brain_herniation url:https://en.wikipedia.org/wiki/Intracranial_pressure NCI:C35335 SNOMEDCT_US_2023_03_01:71912000 UMLS_CUI:C0267918 disease_ontology DOID:9439 chronic cholangitis A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. NCI:C40215 UMLS_CUI:C1516427 cervical Muellerian papilloma disease_ontology DOID:9442 cervical Mullerian papilloma A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. url:http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html url:https://www.ncbi.nlm.nih.gov/pubmed/22935300, A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. NCI:C6342 UMLS_CUI:C1336900 squamous papilloma of the Cervix Uteri disease_ontology DOID:9445 cervix squamous papilloma A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. url:http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html url:https://www.ncbi.nlm.nih.gov/pubmed/13005077 A bile duct disease that is an inflammation of the bile duct. ICD10CM:K83.0 ICD9CM:576.1 MESH:D002761 NCI:C26718 SNOMEDCT_US_2023_03_01:155831003 UMLS_CUI:C0008311 disease_ontology DOID:9446 cholangitis A bile duct disease that is an inflammation of the bile duct. url:http://en.wikipedia.org/wiki/Cholangitis A uterine cancer that is located_in the uterine corpus. ICD10CM:C54 ICD9CM:182 NCI:C3556 SNOMEDCT_US_2023_03_01:93718007 UMLS_CUI:C0153574 corpus uteri cancer disease_ontology DOID:9460 uterine corpus cancer 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 An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. DOID:9785 ICD9CM:380.1 NCI:C3299 SNOMEDCT_US_2023_03_01:194198006 UMLS_CUI:C0021355 swimmer's ear disease_ontology DOID:9463 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 infections. url:http://en.wikipedia.org/wiki/Otitis_externa A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. GARD:7160 ICD10CM:Q87.2 MEDDRA:10063431 MESH:D009261 NCI:C75120 OMIM:161200 ORDO:2614 SNOMEDCT_US_2023_03_01:22199006 UMLS_CUI:C0027341 Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome disease_ontology DOID:9467 OMIM mapping confirmed by DO. [SN]. nail-patella syndrome A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15416035 url:https://www.ncbi.nlm.nih.gov/pubmed/9590287 A meningitis that has_material_basis_in a bacterial infection. GARD:5881 ICD10CM:G00 ICD9CM:320 MESH:D016920 NCI:C118297 SNOMEDCT_US_2023_03_01:267680008 UMLS_CUI:C0085437 disease_ontology DOID:9470 bacterial meningitis A meningitis that has_material_basis_in a bacterial infection. url:https://en.wikipedia.org/wiki/Meningitis#Bacterial A central nervous system disease that is characterized by 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. DOID:9712 ICD10CM:G03 ICD9CM:322.9 MESH:D008581 NCI:C26828 SNOMEDCT_US_2023_03_01:154983000 UMLS_CUI:C0025289 disease_ontology DOID:9471 meningitis A central nervous system disease that is characterized by 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. url:http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 GARD:7630 ICD10CM:E23.0 MESH:D007018 NCI:C35300 SNOMEDCT_US_2023_03_01:15045007 UMLS_CUI:C0242342 Postpartum Hypopituitarism Sheehan's syndrome disease_ontology DOID:9476 Sheehan syndrome 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. ICD10CM:I26 MESH:D011655 NCI:C50713 SNOMEDCT_US_2023_03_01:194882001 UMLS_CUI:C0034065 pulmonary artery embolism pulmonary embolus disease_ontology DOID:9477 PRISM. 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. url:http://en.wikipedia.org/wiki/Pulmonary_embolism url:http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. ICD10CM:F53.0 MESH:D019052 NCI:C92852 SNOMEDCT_US_2023_03_01:58703003 UMLS_CUI:C0221074 Maternity blues postnatal depression disease_ontology DOID:9478 postpartum depression 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 A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. ICD10CM:Q43.0 ICD9CM:751.0 MESH:D008467 NCI:C12264 OMIM:155140 SNOMEDCT_US_2023_03_01:37373007 UMLS_CUI:C0025037 Meckel Diverticulum Persistent vitelline duct disease_ontology DOID:9487 OMIM mapping confirmed by DO. [SN]. Meckel's diverticulum A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. url:https://en.wikipedia.org/wiki/Meckel's_diverticulum ICD10CM:H04.0 ICD9CM:375.0 MESH:D003607 NCI:C26971 SNOMEDCT_US_2023_03_01:86927009 UMLS_CUI:C0155223 disease_ontology DOID:950 dacryoadenitis 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. GARD:1130 GARD:2134 ICD10CM:J82.81 NCI:C34471 SNOMEDCT_US_2023_03_01:233692000 UMLS_CUI:C0008680 Cryptogenic pulmonary eosinophilia disease_ontology DOID:9502 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. 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 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. ICD10CM:J82.89 MESH:D011657 NCI:C35301 SNOMEDCT_US_2023_03_01:64936001 UMLS_CUI:C0242459 Loeffler's pneumonia Loffler's syndrome disease_ontology DOID:9503 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. 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 A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. ICD10CM:J32.2 MESH:D015521 NCI:C34597 SNOMEDCT_US_2023_03_01:18643000 UMLS_CUI:C0015029 ethmoidal sinusitis ethmoiditis disease_ontology DOID:9507 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. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. GARD:9373 ICD10CM:C90.1 ICD9CM:203.1 ICDO:9733/3 MESH:D007952 NCI:C3180 SNOMEDCT_US_2023_03_01:269630009 UMLS_CUI:C0023484 plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia disease_ontology DOID:9513 plasma cell leukemia A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. url:https://en.wikipedia.org/wiki/Plasma_cell_leukemia url:https://rarediseases.info.nih.gov/diseases/9373/index url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/ A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. GARD:6859 ICD10CM:E34.321 MESH:D046150 NCI:C130994 OMIM:262500 ORDO:633 SNOMEDCT_US_2023_03_01:38196001 UMLS_CUI:C0271568 Laron-type isolated somatotropin defect disease_ontology DOID:9521 OMIM mapping confirmed by DO. [SN]. Laron syndrome A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. url:https://ghr.nlm.nih.gov/condition/laron-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/8488849 A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. DOID:12912 DOID:12913 DOID:9492 ICD10CM:A53.0 ICD9CM:097.1 MESH:D013592 NCI:C35056 SNOMEDCT_US_2023_03_01:444150000 UMLS_CUI:C0039133 disease_ontology DOID:9531 latent syphilis 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 A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, 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. ICD10CM:A96.2 MESH:D007835 NCI:C128418 SNOMEDCT_US_2023_03_01:19065005 UMLS_CUI:C0023092 disease_ontology DOID:9537 Lassa fever A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, 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 A myeloid neoplasm that is located_in the plasma cells in bone marrow. EFO:0001378 GARD:7108 ICD10CM:C90.0 ICD9CM:203.0 MESH:D009101 NCI:C3242 OMIM:254500 ORDO:29073 SNOMEDCT_US_2023_03_01:94705007 UMLS_CUI:C0026764 myeloma disease_ontology DOID:9538 OMIM mapping confirmed by DO. [SN]. multiple myeloma A myeloid neoplasm 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 ICD9CM:709.1 MESH:D017445 NCI:C35254 SNOMEDCT_US_2023_03_01:11263005 UMLS_CUI:C0162819 disease_ontology DOID:9540 vascular skin disease NCI:C7813 UMLS_CUI:C0278620 disease_ontology DOID:9544 refractory plasma cell neoplasm A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. NCI:C7150 SNOMEDCT_US_2023_03_01:441313008 UMLS_CUI:C2049069 indolent myeloma disease_ontology DOID:9550 indolent plasma cell myeloma A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. url:https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/ An endocrine system disease that is located_in the adrenal gland. ICD10CM:E27.9 ICD9CM:255.9 MESH:D000307 NCI:C26690 SNOMEDCT_US_2023_03_01:30171000 UMLS_CUI:C0001621 disease_ontology DOID:9553 adrenal gland disease An endocrine system disease that is located_in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_gland_disease NCI:C41430 UMLS_CUI:C1519001 disease_ontology DOID:956 peripheral nerve schwannoma MESH:D009302 NCI:C35723 SNOMEDCT_US_2023_03_01:123952009 UMLS_CUI:C0027438 disease_ontology DOID:9561 nasopharyngeal disease A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. DOID:2925 GARD:4484 MESH:D002925 NCI:C84638 OMIM:PS244400 ORDO:244 SNOMEDCT_US_2023_03_01:86204009 UMLS_CUI:C0008780 ciliary motility disorder immotile ciliary syndrome disease_ontology DOID:9562 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary ciliary dyskinesia A ciliopathy that is characterized by impaired function 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 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:9571 ICD10CM:J47 ICD9CM:494 MESH:D001987 NCI:C84475 OMIM:211400 OMIM:613021 OMIM:613071 OMIM:PS211400 ORDO:60033 SNOMEDCT_US_2023_03_01:155580000 UMLS_CUI:C0006267 Polynesian bronchiectasis disease_ontology DOID:9563 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. url:http://www.merck.com/mmhe/sec04/ch047/ch047a.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis GARD:1827 ICD10CM:Q24.0 MESH:D003914 NCI:C84669 SNOMEDCT_US_2023_03_01:27637000 UMLS_CUI:C0011813 Heart predominantly in right hemithorax disease_ontology DOID:9565 dextrocardia 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. ICD10CM:P37.5 ICD9CM:771.7 NCI:C116810 SNOMEDCT_US_2023_03_01:3973009 UMLS_CUI:C0276682 Neonatal monilia infection neonatal candida infection neonatal moniliasis disease_ontology DOID:9577 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. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ 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. GARD:6355 ICD10CM:A92.2 ICD9CM:066.2 MESH:D004685 NCI:C35121 SNOMEDCT_US_2023_03_01:89990001 UMLS_CUI:C0014078 disease_ontology Venezuelan equine fever DOID:9584 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. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. DOID:2160 MESH:D004660 NCI:C26760 SNOMEDCT_US_2023_03_01:267682000 UMLS_CUI:C0014038 disease_ontology DOID:9588 encephalitis A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. url:http://en.wikipedia.org/wiki/Encephalitis url:http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917 url:http://www.nlm.nih.gov/medlineplus/encephalitis.html ICD10CM:N21.1 ICD9CM:594.2 NCI:C26995 SNOMEDCT_US_2023_03_01:20342001 UMLS_CUI:C0162301 urethral Stone disease_ontology DOID:9589 urethral calculus NCI:C5344 SNOMEDCT_US_2023_03_01:1197270001 UMLS_CUI:C1333467 disease_ontology DOID:959 esophagus squamous cell papilloma An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. GARD:8627 MESH:D007725 NCI:C3153 SNOMEDCT_US_2023_03_01:4305004 UMLS_CUI:C0022790 Krukenberg neoplasm disease_ontology Krukenberg tumor DOID:9597 Krukenberg carcinoma An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. url:https://en.wikipedia.org/wiki/Krukenberg_tumor url:https://www.ncbi.nlm.nih.gov/books/NBK482284/ url:https://www.ncbi.nlm.nih.gov/pubmed/29113663 url:https://www.ncbi.nlm.nih.gov/pubmed/29489206 A connective tissue disease characterized by inflammation located in the fascia. ICD10CM:M72.9 ICD9CM:729.4 MESH:D005208 NCI:C50559 SNOMEDCT_US_2023_03_01:36948007 UMLS_CUI:C0015645 disease_ontology DOID:9598 fasciitis A connective tissue disease characterized by inflammation located in the fascia. url:https://en.wikipedia.org/wiki/Fasciitis url:https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846 NCI:C4728 SNOMEDCT_US_2023_03_01:35548007 UMLS_CUI:C0432528 disease_ontology DOID:9599 proliferative fasciitis 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. ICD10CM:A05.0 ICD9CM:005.0 MESH:D013202 NCI:C35037 SNOMEDCT_US_2023_03_01:84622004 UMLS_CUI:C0038159 Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis disease_ontology DOID:96 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. url:https://pubmed.ncbi.nlm.nih.gov/22091892/ NCI:C3866 SNOMEDCT_US_2023_03_01:276805005 UMLS_CUI:C0238114 disease_ontology DOID:960 esophagus leiomyoma NCI:C6483 SNOMEDCT_US_2023_03_01:403990005 UMLS_CUI:C1304514 Atypical Decubital Fibroplasia disease_ontology DOID:9601 ischemic fasciitis GARD:6454 ICD10CM:M72.6 ICD9CM:728.86 MESH:D019115 NCI:C84916 SNOMEDCT_US_2023_03_01:186428007 UMLS_CUI:C0238124 disease_ontology DOID:9602 necrotizing fasciitis NCI:C4729 SNOMEDCT_US_2023_03_01:254738007 UMLS_CUI:C0432529 Intravascular Pseudosarcomatous Fasciitis disease_ontology DOID:9603 intravascular fasciitis NCI:C5704 UMLS_CUI:C1333463 disease_ontology DOID:961 neurofibroma of the esophagus GARD:7191 ICDO:9540/0 MESH:D009455 NCI:C3272 SNOMEDCT_US_2023_03_01:404029005 UMLS_CUI:C0027830 disease_ontology DOID:962 neurofibroma A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. ICD10CM:N13.7 ICD9CM:593.7 MESH: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_2023_03_01:197811007 UMLS_CUI:C0042580 vesico-ureteral reflux disease_ontology DOID:9620 Xref MGI. OMIM mapping confirmed by DO. [LS]. vesicoureteral 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 ICD10CM:N28.81 ICD9CM:593.1 NCI:C122991 SNOMEDCT_US_2023_03_01:197800004 UMLS_CUI:C0156259 disease_ontology DOID:9622 kidney hypertrophy A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. GARD:9148 MESH:D010381 NCI:C85002 OMIM:169400 SNOMEDCT_US_2023_03_01:85559002 UMLS_CUI:C0030779 disease_ontology DOID:9631 OMIM mapping confirmed by DO. [SN]. Pelger-Huet anomaly A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. url:https://www.ncbi.nlm.nih.gov/pubmed/12118250 A mouth disease that is characterized by inflammation of the mouth and lips. ICD10CM:K12.1 MESH:D013280 NCI:C26887 SNOMEDCT_US_2023_03_01:95361005 UMLS_CUI:C0038362 disease_ontology DOID:9637 stomatitis A mouth disease that is characterized by inflammation of the mouth and lips. url:https://en.wikipedia.org/wiki/Stomatitis A parasitic protozoa infectious disease that has_symptom mild 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. GARD:5878 ICD10CM:B60.0 ICD9CM:088.82 MESH:D001404 NCI:C84581 SNOMEDCT_US_2023_03_01:187241002 UMLS_CUI:C0004576 Babesiasis Infection by babesia piroplasmosis disease_ontology DOID:9643 babesiosis A parasitic protozoa infectious disease that has_symptom mild 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 ICD10CM:H55.0 ICD9CM:379.50 MESH:D009759 NCI:C3282 SNOMEDCT_US_2023_03_01:194171007 UMLS_CUI:C0028738 disease_ontology DOID:9650 pathologic nystagmus A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. GARD:5834 ICD9CM:528.2 MESH:D013281 NCI:C62546 SNOMEDCT_US_2023_03_01:398870000 UMLS_CUI:C0038363 Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer disease_ontology Oral aphthous ulcer DOID:9663 aphthous stomatitis A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. url:http://en.wikipedia.org/wiki/Aphthous_stomatitis 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 ICD10CM:O20.0 ICD9CM:640.0 MESH:D000033 NCI:C112857 SNOMEDCT_US_2023_03_01:54048003 UMLS_CUI:C0000821 abruptio placenta abruptio placentae disease_ontology DOID:9667 PRISM. placental abruption 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 A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. ICD10CM:H25 ICD9CM:366.1 NCI:C35012 SNOMEDCT_US_2023_03_01:39450006 UMLS_CUI:C0036646 disease_ontology DOID:9669 senile cataract A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. url:https://eyewiki.aao.org/Cataract GARD:4001 ICD10CM:A69.0 ICD9CM:528.1 MESH:D009625 NCI:C34852 SNOMEDCT_US_2023_03_01:196528007 UMLS_CUI:C0028271 Cancrum oris Gangrenous stomatitis disease_ontology DOID:9672 noma ICD10CM:K12.1 MESH:D005892 NCI:C35039 SNOMEDCT_US_2023_03_01:450005 UMLS_CUI:C0038367 disease_ontology DOID:9673 ulcerative stomatitis 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. ICD10CM:N88.3 ICD9CM:622.5 MESH:D002581 NCI:C50607 SNOMEDCT_US_2023_03_01:36836005 UMLS_CUI:C0007871 disease_ontology DOID:9681 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. url:http://en.wikipedia.org/wiki/Cervical_incompetence 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:9683 DOID:9684 GARD:7914 ICD10CM:A95 ICD9CM:060 MESH:D015004 NCI:C35547 SNOMEDCT_US_2023_03_01:154345006 UMLS_CUI:C0043395 Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever disease_ontology DOID:9682 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. url:http://en.wikipedia.org/wiki/Yellow_fever url:http://www.who.int/mediacentre/factsheets/fs100/en/index.html url:https://www.cdc.gov/yellowfever/ A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. DOID:10601 GARD:2546 ICD10CM:P39.1 ICD9CM:771.6 NCI:C116815 SNOMEDCT_US_2023_03_01:206345004 SNOMEDCT_US_2023_03_01:80881003 UMLS_CUI:C0027611 UMLS_CUI:C0029076 Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis disease_ontology DOID:9699 ophthalmia neonatorum A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. url:https://en.wikipedia.org/wiki/Neonatal_conjunctivitis ICD10CM:H10.0 MESH:D003234 NCI:C53656 SNOMEDCT_US_2023_03_01:193877001 UMLS_CUI:C0009768 Purulent conjunctivitis disease_ontology DOID:9700 bacterial conjunctivitis ICD10CM:M77.9 MESH:D052256 NCI:C97141 SNOMEDCT_US_2023_03_01:312785002 UMLS_CUI:C0039503 disease_ontology DOID:971 tendinitis ICD10CM:K82.0 ICD9CM:575.2 NCI:C78308 SNOMEDCT_US_2023_03_01:197415009 UMLS_CUI:C0156214 Obstruction of gallbladder disease_ontology DOID:9714 occlusion of gallbladder ICD10CM:H43.81 MESH:D020255 NCI:C50807 SNOMEDCT_US_2023_03_01:267747007 UMLS_CUI:C0042907 disease_ontology DOID:9726 vitreous detachment An urogenital tuberculosis that results_in formation of granulomas located_in kidney. ICD9CM:016.0 MESH:D014398 NCI:C123020 SNOMEDCT_US_2023_03_01:44323002 UMLS_CUI:C0041328 Tuberculosis of kidney disease_ontology DOID:9733 renal tuberculosis An urogenital tuberculosis that results_in formation of granulomas located_in kidney. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/ ICD9CM:250.6 MESH:D003929 NCI:C26748 SNOMEDCT_US_2023_03_01:193182005 UMLS_CUI:C0011882 disease_ontology DOID:9743 diabetic neuropathy A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. GARD:10268 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 SNOMEDCT_US_2023_03_01:46635009 UMLS_CUI:C0011854 IDDM insulin-dependent diabetes mellitus type I diabetes mellitus disease_ontology DOID:9744 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 1 diabetes mellitus A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. ICD10CM:K64 ICD9CM:455 MESH:D006484 NCI:C26792 SNOMEDCT_US_2023_03_01:70153002 UMLS_CUI:C0019112 hemorrhoidal disease disease_ontology DOID:9746 hemorrhoid A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. url:http://en.wikipedia.org/wiki/Hemorrhoid url:http://www.nlm.nih.gov/medlineplus/hemorrhoids.html url:https://www.ncbi.nlm.nih.gov/pubmed/19725283 A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. MESH:D041882 NCI:C35592 SNOMEDCT_US_2023_03_01:95558008 UMLS_CUI:C0521610 Gaseous pericholecystitis disease_ontology DOID:9765 emphysematous cholecystitis A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. 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 url:https://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us A cholecystitis characterized by nodules containing lipid-laden macrophages. GARD:9451 MESH:C536762 NCI:C35792 SNOMEDCT_US_2023_03_01:448286002 UMLS_CUI:C1337035 disease_ontology DOID:9766 xanthogranulomatous cholecystitis A cholecystitis characterized by nodules containing lipid-laden macrophages. url:https://pubmed.ncbi.nlm.nih.gov/23991684/ url:https://pubmed.ncbi.nlm.nih.gov/26981227/ An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. ICD10CM:K58 ICD9CM:564.1 KEGG:05321 MESH:D043183 NCI:C82343 SNOMEDCT_US_2023_03_01:155783000 UMLS_CUI:C0022104 IBD Irritable colon disease_ontology Psychogenic IBS DOID:9778 irritable bowel syndrome An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. url:http://en.wikipedia.org/wiki/Irritable_bowel_syndrome url:https://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome 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. ICD10CM:B75 ICD9CM:124 MESH:D014235 NCI:C85199 SNOMEDCT_US_2023_03_01:709018004 UMLS_CUI:C0040896 Trichinella spiralis infection disease_ontology DOID:9784 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm ICD10CM:M60.1 ICD9CM:728.81 NCI:C26985 SNOMEDCT_US_2023_03_01:55925001 UMLS_CUI:C0158362 Interstitial myositis disease_ontology DOID:9788 myositis fibrosa 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:9791 GARD:7788 ICD10CM:B83.0 MESH:D007816 NCI:C34758 SNOMEDCT_US_2023_03_01:87121004 UMLS_CUI:C0023049 Infection by Toxascaris Toxocara infection visceral larva migrans disease_ontology DOID:9790 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. url:http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. DOID:9812 GARD:2551 ICD10CM:M31.0 ICD9CM:446.21 MESH:D019867 NCI:C84566 OMIM:233450 SNOMEDCT_US_2023_03_01:788613004 UMLS_CUI:C0403529 anti-GBM disease anti-glomerular basement membrane disease disease_ontology DOID:9808 OMIM mapping confirmed by DO. [SN]. Goodpasture syndrome An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. url:http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. GARD:7851 ICD10CM:M31.0 ICD9CM:446.2 MESH:D018366 NCI:C35119 SNOMEDCT_US_2023_03_01:195350001 UMLS_CUI:C0151436 disease_ontology DOID:9809 hypersensitivity vasculitis A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. url:https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. GARD:7360 ICD10CM:M30.0 ICD9CM:446.0 MESH:D010488 NCI:C26847 SNOMEDCT_US_2023_03_01:195347004 UMLS_CUI:C0031036 disease_ontology DOID:9810 polyarteritis nodosa A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. url:https://en.wikipedia.org/wiki/Polyarteritis_nodosa url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/ GARD:6061 ICD10CM:H31.21 ICD9CM:363.55 MESH:D015794 NCI:C34469 OMIM:303100 ORDO:180 SNOMEDCT_US_2023_03_01:75241009 UMLS_CUI:C0008525 progressive Choroidal Atrophy disease_ontology DOID:9821 OMIM mapping confirmed by DO. [SN]. choroideremia MESH:D015794 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 ICD10CM:P96.1 ICD9CM:779.5 MESH:D009357 NCI:C35808 NCI:C87101 SNOMEDCT_US_2023_03_01:414819007 UMLS_CUI:C0027609 UMLS_CUI:C1332133 Drug withdrawal syndrome in newborn disease_ontology DOID:9828 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. url:http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome ICD10CM:H52.7 MESH:D012030 NCI:C87145 SNOMEDCT_US_2023_03_01:39021009 UMLS_CUI:C0034951 disease_ontology DOID:9835 refractive error ICD10CM:H50.2 ICD9CM:378.31 MESH:D013285 NCI:C34716 SNOMEDCT_US_2023_03_01:40608009 UMLS_CUI:C0020575 disease_ontology DOID:9837 hypertropia A strabismus that is characterized the eye which turns inward toward the nose. GARD:8235 ICD10CM:H50.0 ICD9CM:378.0 MESH:D004948 NCI:C34596 SNOMEDCT_US_2023_03_01:155193001 UMLS_CUI:C0014877 Convergence in manifest squint Internal Strabismus crossed eyes disease_ontology DOID:9840 esotropia A strabismus that is characterized the eye which turns inward toward the nose. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+ ICD9CM:378.32 NCI:C42086 SNOMEDCT_US_2023_03_01:29491004 UMLS_CUI:C0152208 disease_ontology DOID:9841 hypotropia A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. GARD:10340 ICD10CM:H81.0 ICD9CM:386.0 MESH:D008575 NCI:C185243 OMIM:156000 SNOMEDCT_US_2023_03_01:194346003 UMLS_CUI:C0025281 Meniere disease Mnire's vertigo Otogenic vertigo disease_ontology DOID:9849 OMIM mapping confirmed by DO. [SN]. Meniere's disease 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 A syphilis that results_in a multisystem infection in the fetus via the placenta. ICD10CM:A50 ICD9CM:090 MESH:D013590 NCI:C84649 SNOMEDCT_US_2023_03_01:154380005 UMLS_CUI:C0039131 disease_ontology DOID:9856 congenital syphilis A syphilis that results_in a multisystem infection in the fetus via the placenta. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. DOID:9862 ICD10CM:A19 ICD9CM:018 MESH:D014391 NCI:C35086 SNOMEDCT_US_2023_03_01:154291001 UMLS_CUI:C0041321 Disseminated tuberculosis Tuberculosis miliaris disseminata acute miliary tuberculosis generalized tuberculosis disease_ontology DOID:9861 miliary tuberculosis An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. url:http://en.wikipedia.org/wiki/Disseminated_tuberculosis ICD9CM:271.3 NCI:C34731 UMLS_CUI:C0021830 disease_ontology DOID:9868 intestinal disaccharidase deficiency A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. ICD10CM:E74.12 ICD9CM:271.2 MESH:D005633 NCI:C84720 OMIM:229600 SNOMEDCT_US_2023_03_01:20290005 UMLS_CUI:C0016751 Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia disease_ontology DOID:9869 hereditary fructose intolerance syndrome A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/20848650/ url:https://pubmed.ncbi.nlm.nih.gov/9610797/ A hypotrichosis that is characterized by a loss of hair from the head or body. ICD10CM:L65.9 ICD9CM:704.0 MESH:D000505 NCI:C50575 OMIM:PS203655 SNOMEDCT_US_2023_03_01:270504008 UMLS_CUI:C0002170 disease_ontology DOID:987 alopecia MESH:D000505 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 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. GARD:2424 ICD10CM:E74.21 ICD9CM:271.1 MESH:D005693 NCI:C84723 SNOMEDCT_US_2023_03_01:38177000 UMLS_CUI:C0016952 Galactosaemia Galactose intolerance disease_ontology DOID:9870 OMIM mapping by NeuroDevNet. [LS]. galactosemia 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 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. MESH:D008945 NCI:C50655 OMIM:157700 OMIM:607829 OMIM:610840 SNOMEDCT_US_2023_03_01:8074002 UMLS_CUI:C0026267 Barlow's syndrome floppy mitral valve disease_ontology mitral leaflet syndrome myxomatous mitral valve prolapse systolic click-murmur syndrome DOID:988 Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. 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 A myopathy is characterized by progressive skeletal muscle weakness degeneration. GARD:7922 ICD10CM:G71.0 MESH:D009136 NCI:C84910 OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0026850 disease_ontology DOID:9884 muscular dystrophy 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 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. ICD10CM:H00.1 ICD9CM:373.2 MESH:D017043 NCI:C26717 SNOMEDCT_US_2023_03_01:155172004 UMLS_CUI:C0007933 Chalazion meibomian gland lipogranuloma disease_ontology DOID:9903 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. url:http://en.wikipedia.org/wiki/Chalazion ICD10CM:L65.2 MESH:D000507 NCI:C82859 SNOMEDCT_US_2023_03_01:201150001 UMLS_CUI:C0002173 Alopecia mucinosa disease_ontology DOID:9905 follicular mucinosis An eyelid disease that is characterized by 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 MESH:D006726 NCI:C118722 SNOMEDCT_US_2023_03_01:74612003 UMLS_CUI:C0019917 Boil of eyelid Furuncle of eyelid Hordeolum externum Stye disease_ontology DOID:9909 hordeolum An eyelid disease that is characterized by 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 A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. ICD10CM:F82 ICD9CM:315.4 MESH:D019957 NCI:C92561 SNOMEDCT_US_2023_03_01:27544004 UMLS_CUI:C0011757 disease_ontology DOID:9923 developmental coordination disorder 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 An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. DOID:12613 GARD:9449 MESH:D014884 NCI:C85225 SNOMEDCT_US_2023_03_01:267484005 UMLS_CUI:C0043068 Meningococcal hemorrhagic adrenalitis disease_ontology DOID:9931 Waterhouse-Friderichsen syndrome 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 An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. ICD10CM:H04.30 ICD9CM:375.30 MESH:D003607 NCI:C34521 SNOMEDCT_US_2023_03_01:267738004 UMLS_CUI:C0010930 disease_ontology DOID:9938 dacryocystitis An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/ ICD9CM:375.43 NCI:C98968 SNOMEDCT_US_2023_03_01:42758002 UMLS_CUI:C0155241 lacrimal mucocele disease_ontology DOID:9939 dacryocystocele NCI:C35346 SNOMEDCT_US_2023_03_01:76616003 UMLS_CUI:C0272394 disease_ontology DOID:9942 lymph node disease A acute leukemia that is characterized by over production of lymphoblasts. DOID:5600 EFO:0000220 GARD:522 ICD10CM:C91.00 ICD9CM:204.0 NCI:C3167 NCI:C7055 OMIM:247640 OMIM:613065 ORDO:513 SNOMEDCT_US_2023_03_01:128822004 UMLS_CUI:C0023449 UMLS_CUI:C1335469 ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia disease_ontology DOID:9952 Xref MGI. acute lymphoblastic leukemia A acute leukemia that is characterized by over production of lymphoblasts. url:http://www.cancer.gov/dictionary?CdrID=46332 An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. ICD10CM:C95.0 ICDO:9805/3 MESH:D015456 NCI:C4673 SNOMEDCT_US_2023_03_01:128818009 UMLS_CUI:C0023464 mixed phenotype acute leukemia disease_ontology DOID:9953 acute biphenotypic leukemia An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. url:https://www.ncbi.nlm.nih.gov/pubmed/29021517 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. GARD:6739 ICD10CM:Q23.4 ICD9CM:746.7 MESH:D018636 NCI:C98894 OMIM:241550 OMIM:614435 ORDO:2248 SNOMEDCT_US_2023_03_01:62067003 UMLS_CUI:C0152101 disease_ontology DOID:9955 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypoplastic left heart syndrome 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 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 ICD10CM:B58 ICD9CM:130 MESH:D014123 NCI:C3418 SNOMEDCT_US_2023_03_01:266225001 UMLS_CUI:C0040558 disseminated toxoplasmosis disease_ontology DOID:9965 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 An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. ICD10CM:E67.1 ICD9CM:278.3 NCI:C26963 OMIM:115300 SNOMEDCT_US_2023_03_01:35487009 UMLS_CUI:C0154271 hypercarotinemia disease_ontology DOID:9969 carotenemia An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. url:https://www.ncbi.nlm.nih.gov/books/NBK534878/ An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C159658 OMIM:601665 SNOMEDCT_US_2023_03_01:5476005 UMLS_CUI:C0028754 disease_ontology DOID:9970 OMIM mapping confirmed by DO. [SN]. obesity An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. url:https://en.wikipedia.org/wiki/Obesity A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. NCI:C35458 SNOMEDCT_US_2023_03_01:255338002 UMLS_CUI:C0439857 disease_ontology DOID:9973 substance dependence 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 A drug dependence that is a psychological dependency on the regular use of cocaine. ICD10CM:F14.2 ICD9CM:304.2 MESH:D019970 NCI:C34492 SNOMEDCT_US_2023_03_01:286934009 UMLS_CUI:C0600427 disease_ontology DOID:9975 cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine. url:http://en.wikipedia.org/wiki/Cocaine_dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. MESH:D006556 NCI:C34694 SNOMEDCT_US_2023_03_01:191817000 UMLS_CUI:C0019337 disease_ontology DOID:9976 heroin dependence 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 A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. ICD10CM:F16.2 ICD9CM:304.5 NCI:C34657 SNOMEDCT_US_2023_03_01:191847003 UMLS_CUI:C0018528 disease_ontology DOID:9977 hallucinogen dependence 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 An orbital cancer that has_material_basis_in some lymphocyte. GARD:9719 MESH:C537131 NCI:C6244 SNOMEDCT_US_2023_03_01:13048006 UMLS_CUI:C0271333 Lymphoma of the orbit disease_ontology DOID:9986 orbit lymphoma An orbital cancer that has_material_basis_in some lymphocyte. url:https://en.wikipedia.org/wiki/Orbital_lymphoma An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. NCI:C6095 SNOMEDCT_US_2023_03_01:699354006 UMLS_CUI:C1335131 orbital sarcoma disease_ontology DOID:9987 orbit sarcoma An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095 A tertiary syphilis that results in infection located in brain or located in spinal cord. ICD10CM:A52.3 ICD9CM:094 MESH:D009494 NCI:C84935 SNOMEDCT_US_2023_03_01:154384001 UMLS_CUI:C0027927 late neurosyphilis disease_ontology DOID:9988 tertiary 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 A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. ICD10CM:E16.2 ICD9CM:251.2 MESH:D007003 NCI:C3126 SNOMEDCT_US_2023_03_01:154691006 UMLS_CUI:C0020615 Hypoglycaemia disease_ontology DOID:9993 hypoglycemia A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. url:https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. DOID:11697 DOID:11980 GARD:220 ICD10CM:O90.3 ICD9CM:674.5 NCI:C171602 UMLS_CUI:C0877208 antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy disease_ontology DOID:9997 peripartum cardiomyopathy A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. url:https://pubmed.ncbi.nlm.nih.gov/30575651/ url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy