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gram-negative bacterial infectious disease
gram-positive bacterial infectious disease
Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types.
Type of tissue or cell/the source of the material.
Development process/cause and effect/disease progress,process.
Formation of structure,cancer,etc./cause and effect.
A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
A disease that involving errors in metabolic processes of building or degradation of molecules.
Actinomadura pelletieri infectious disease
Streptomyces somaliensis infectious disease
A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.
A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease.
Mansonella streptocerca infectious disease
A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome.
An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
An acquired metabolic disease that is characterized by abnormal mineral metabolism.
A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
Rickettsia heilongjiangensis spotted fever
A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite.
A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.
hepatic Torque teno virus infectious disease
A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
Transfussion-transmitted virus liver infection
An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.
A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.
An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.
An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.
A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.
A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.
An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals.
An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions.
An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans.
An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum.
A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions.
An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots".
A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.
An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.
An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
Neuroinvasive California encephalitis virus infection
A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.
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.
Hemophagocytic lymphohistiocytosis, familial, 2
Xref MGI. MSH:C537250 added from NeuroDevNet [WAK].
A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
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.
Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
Opisthorchis felineus infectious disease
A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.
A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins.
A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.
An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing.
A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.
A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
A bacterial pneumonia caused by the genus Mycoplasma.
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
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.
Bronchiolitis obliterans organizing pneumonia (disorder)
bronchiolitis obliterans organizing pneumonia
idiopathic bronchiolitis obliterans with organizing 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.
familial desquamative interstitial pneumonitis
respiratory bronchiolitis-associated interstitial lung disease
An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
A respiratory system disease which involves the lower respiratory tract.
A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain.
An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
autoimmune polyendocrine syndrome type 1
An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyendocrine syndrome type 2
An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.
A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Western European tick-borne encephalitis
A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.
A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.
A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.
An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.
A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.
An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.
An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
Lymphocytic choriomeningitis virus encephalitis
A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.
A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.
An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.
A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.
A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations.
A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice.
A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.
An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.
A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea.
A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever.
A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea.
An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission.
A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting.
Helicobacter heilmannii infectious disease
A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.
Morganella morganii intestinal infectious disease
An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever.
An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration.
A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.
A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.
A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
Balamuthia mandrillaris infectious disease
A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.
A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.
A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.
A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.
A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.
A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.
An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.
An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
Granulomatous Amebic Encephalitis due to Acanthamoeba
parasitic stramenopiles infectious disease
A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.
A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness.
A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
Uncinaria stenocephala infectious disease
A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
Angiostrongylus cantonensis infectious disease
An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.
Angiostrongylus costaricensis infectious disease
An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals.
A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis.
A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
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.
A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
Neoscytalidium dimidiatum infectious disease
A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed.
A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
subcutaneous fungi incertae sedis mycosis
A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members.
A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.
A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.
A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
opportunistic fungi incertae sedis mycosis
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
parasitic Ichthyosporea infectious disease
A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
Scopulariopsis brevicaulis infectious disease
An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface.
A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain.
A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
primary Francisellaceae infectious disease
A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.
primary Helicobacteraceae infectious disease
primary Campylobacteraceae infectious disease
primary Erysipelotrichaceae infectious disease
commensal Clostridiaceae infectious disease
commensal Staphylococcaceae infectious disease
commensal Streptococcaceae infectious disease
primary Burkholderiaceae infectious disease
primary Legionellaceae infectious disease
commensal Alcaligenaceae infectious disease
opportunistic Pseudomonadaceae infectious disease
A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
A hypothyroidism that is present at birth.
Xref MGI. OMIM mapping confirmed by DO. [SN].
A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.
An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes.
prolonged electroretinal response suppression
A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
opportunistic bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
opportunistic Actinomycetales infectious disease
commensal Actinomycetales infectious disease
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
commensal Bifidobacteriaceae infectious disease
primary Thermomonosporaceae infectious disease
primary Corynebacteriaceae infectious disease
primary Mycobacteriaceae infectious disease
primary Streptomycetaceae infectious disease
opportunistic Nocardiaceae infectious disease
primary Clostridiaceae infectious disease
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
opportunistic Burkholderiaceae infectious disease
Burkholderia cenocepacia infectious disease
commensal Chlamydiaceae infectious disease
Bilophila wadsworthia necrotizing fasciitis
commensal Enterobacteriaceae infectious disease
opportunistic Enterobacteriaceae infectious disease
Elizabethkingia meningoseptica infectious disease
Capnocytophaga canimorsus infectious disease
opportunistic Flavobacteriaceae infectious disease
Chryseobacterium indologenes infectious disease
commensal Fusobacteriaceae infectious disease
primary Mycoplasmataceae infectious disease
commensal Neisseriaceae infectious disease
commensal Pasteurellaceae infectious disease
commensal Haemophilus infectious disease
Burkholderia cepacia complex infectious disease
opportunistic Campylobacteraceae infectious disease
A tularemia that results_in swelling of regional lymph glands.
A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
commensal Helicobacteraceae infectious disease
commensal Helicobacter infectious disease
Elizabethkingia meningoseptica meningitis
cerebral Bilophila wadsworthia infectious disease
A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
Pseudomonas urinary tract infectious disease
commensal Mycoplasmatales infectious disease
commensal Mycoplasmataceae infectious disease
Yersinia pseudotuberculosis mesenteric lymphadenitis
Streptococcus dysgalactiae subsp. equisimilis meningitis
Streptococcus equi subsp. zooepidemicus meningitis
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
primary Streptococcaceae infectious disease
primary streptococcal infectious disease
Yersinia pseudotuberculosis gastroenteritis
enteroaggregative Escherichia coli infectious disease
An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
nonepidermolytic palmoplantar keratoderma
A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
diffuse nonepidermolytic palmomplantar keratoderma
An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
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.
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia/cardiomyopathy
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.
A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
A syndrome characterized by a combination of hearing loss and visual impairment.
Xref MGI. OMIM mapping confirmed by DO. [LS].
A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Hypophosphatemia, Vitamin D-Resistant Rickets
hypophosphatemic rickets X-linked dominant
A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
Jackson-Lawler Type Pachyonychia Congenita
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
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.
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
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.
An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
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.
An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
Mesodermal Dysmorphodystrophy, Congenital
A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
primary Escherichia coli infectious disease
A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
A goiter characterized by a multinodular enlargement of the thyroid gland.
A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
double stranded DNA virus infectious disease
A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
single stranded DNA virus infectious disease
A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase.
double stranded DNA reverse transcribing virus infectious disease
double stranded DNA-reverse transcribing virus infection
A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
double stranded RNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes.
Positive Stranded ssRNA Virus infectious disease
positive-sense single stranded RNA virus infectious disease
positive-sense ssRNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes.
Negative Stranded ssRNA Virus infectious disease
negative-sense single stranded RNA virus infectious disease
negative-sense ssRNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase.
single stranded RNA reverse transcribing virus infectious disease
human papilloma virus related anal squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus.
human papilloma virus related vaginal squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina.
A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Lymphocytic choriomeningitis virus meningitis
A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
Lymphocytic choriomeningitis virus meningoencephalitis
A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
autosomal recessive neuromyotonia and axonal neuropathy
A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
Hypomelia Hypotrichosis Facial hemangioma syndrome
A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
hereditary motor and sensory neuropathy type 1
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
hereditary motor and sensory neuropathy Guadalajara neuronal type
hereditary motor and sensory neuropathy Okinawa type
hereditary motor and sensory neuropathy type 2
A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
hereditary motor and sensory neuropathy Russe type
A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
Charcot-Marie-Tooth disease intermediate type
A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
Charcot-Marie-Tooth disease dominant intermediate
Charcot-Marie-Tooth disease recessive intermediate
An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
hereditary sensory and autonomic neuropathy
An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
X-linked sideroblastic anemia with ataxia
Anemia sideroblastic and spinocerebellar ataxia
X-linked sideroblastic anemia and ataxia
A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
cerebroocular dysplasia-muscular dystrophy syndrome
An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
autosomal dominant nonsyndromic deafness
A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
autosomal recessive nonsyndromic deafness
A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
A nonsyndromic deafness characterized by an X-linked inheritance mode.
A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
spondylocostal dysostosis, autosomal recessive 3
An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
congenital disorder of glycosylation type I
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
congenital disorder of glycosylation type II
A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
A bone development disease characterized by short fingers and toes.
Chlamydophila pneumoniae infectious disease
A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
An impulse control disorder that involves the uncontrollable plucking of ones hair.
An intestinal disease characterized by inflammation located_in all parts of digestive tract.
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
A tooth disease characterized by failure to develop on or more missing teeth.
A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat.
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.
A tuberculosis that occurs at body sites other than the lung.
An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
acro-dermato-ungual-lacrimal-tooth syndrome
Achalasia-Addisonianism-Alacrimia syndrome
An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
Leydig cell tumor, malignant (morphologic abnormality)
A respiratory system cancer that is located_in the paranasal sinuses.
Epidermoid carcinoma of the paranasal sinus
Mucoepidermoid carcinoma of Accessory sinus
adenoid cystic carcinoma of Accessory sinus
adenoid cystic carcinoma of paranasal sinus
paranasal sinus adenoid cystic carcinoma
paranasal sinus mucoepidermoid carcinoma
squamous cell carcinoma of paranasal sinus
infiltrating renal pelvis transitional cell carcinoma
An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
An organ system benign neoplasm that is located_in reproductive system organs.
An organ system benign neoplasm located_in gastrointestinal tract organs.
A hepatobiliary benign neoplasm located_in the biliary tract.
neoplasm of extrahepatic bile ducts (disorder)
A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
malignant gastrointestinal neuroendocrine tumor
A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
Amyloidosis, hereditary, transthyretin-related
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
transthyretin-related hereditary amyloidosis
An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
familial primary localized cutaneous amyloidosis
A microcytic anemia characterized by paler than normal blood cells.
A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
generalized arterial calcification of infancy
idiopathic infantile arterial calcification
A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
A muscle tissue disease characterized by congenital joint contractures of hand and feet.
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
Lethal ataxia with deafness and optic atrophy
An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
band-like calcification with simplified gyration and polymicrogyria
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
juvenile-onset vitelliform macular dystrophy
Bietti crystalline corneoretinal dystrophy
A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
alcohol-related neurodevelopmental disorder
A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
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.
Athabaskan brainstem dysgenesis syndrome
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Small cell carcinoma - intermediate cell
Small cell carcinoma, intermediate cell (morphologic abnormality)
A cancer that is classified based on the organ it starts in.
A cancer that is classified by the type of cell from which it is derived.
A large intestine cancer that is located_in the terminal part of the large intestine.
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
malignant pleural solitary fibrous tumor
A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
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.
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
MSH:D009202 added from NeuroDevNet [WAK].
An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
neonatal period electroclinical syndrome
An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
An electroclinical syndrome with onset in childhood between one and 12 years of age.
adolescence-adult electroclinical syndrome
An electroclinical syndrome with onset in adolescence and adulthood.
variable age at onset electroclinical syndrome
A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
Early Infantile Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy with Burst-Suppression
3-Methylcrotonyl-CoA carboxylase deficiency
An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
arginine:glycine amidinotransferase deficiency
A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
methylmalonic aciduria and homocystinuria type cblC
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
methylmalonic aciduria and homocystinuria type cblD
A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
methylmalonic aciduria and homocystinuria type cblF
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl).
An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
cerebral folate receptor alpha deficiency
A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Phosphoserine aminotransferase deficiency
A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
A vitamin metabolic disorder that results from low blood levels of vitamin B12.
methylmalonic aciduria and homocystinuria type cblE
methylmalonic aciduria and homocystinuria type cblG
A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
A monogenic disease that has_material_basis_in muations on the Y chromosome.
A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
Dysharmonic skeletal maturation - muscular fibre disproportion
A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
mature T-cell and natural killer cell lymphoma
A non-Hodgkin lymphoma involving aberrant T-cells.
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.
A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
T-cell large granular lymphocyte leukemia
A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
A cerebellar disease characterized by ataxia originating in the cerebellum.
A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
Deafness Dystonia Optic Atrophy Syndrome
Deafness Dystonia Optic Neuronopathy Syndrome (DDON)
A lactic acidosis that has_material_basis_in high levels of acid.
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
X-linked myopathy with excessive autophagy
A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Arthrogryposis-renal dysfunction-cholestasis
Armfield X-linked mental retardation syndrome
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.
non-syndromic X-linked intellectual disability
A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
non-specific X-linked mental retardation
A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
X-linked Malformation and Infantile Lethality Syndrome
A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
secondary progressive multiple sclerosis
A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
progressive relapsing multiple sclerosis
A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
fibular hypoplasia and complex brachydactyly
An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
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.
multiple cutaneous and mucosal venous malformations
An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
guanidinoacetate methyltransferase deficiency
alopecia androgenetica, male pattern baldness
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
defective biosynthesis of proteodermatan sulfate
xylosylprotein 4-beta-galactosyltransferase deficiency
A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
spondyloepimetaphyseal dysplasia, Pakistani type
A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
spondyloepimetaphyseal dysplasia Pakistani type
spondyloepiphyseal dysplasia with congenital joint dislocations
A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
Humero-spinal dysostosis with congenital heart disease
An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
An eye and adnexa disease that is located_in the adnexa of the eye.
An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
hydronephrosis with peculiar facial expression
An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
Rheumatic disease of tricuspid valve (disorder)
Rheumatic tricuspid valve disease NOS (disorder)
A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
A vascular disease that is located_in an artery.
A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
familial encephalopathy with neuroserpin inclusion bodies
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
A dystonia that affects most or all of the body.
Idiopathic non-familial dystonia (disorder)
MSH:C538001 added from NeuroDevNet [WAK].
Symptomatic torsion dystonia NOS (disorder)
A dystonia that is localized to a specific part of the body.
A dystonia that involves two or more unrelated body parts.
A dystonia that affects two or more adjacent parts of the body.
A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
A focal dystonia that is characterized by distortions of the mouth and tongue.
A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
A multifocal dystonia that involves the arm and leg on the same side of the body.
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
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.
A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
A colorectal cancer that derives_from epithelial cells of glandular origin.
arteritic anterior ischemic optic neuropathy
non-arteritic anterior ischemic optic neuropathy
nonarteritic anterior ischemic optic neuropathy
A tongue cancer that is located_in the squamous cells of the tongue.
An oral cavity cancer that has_material_basis_in squamous cells.
A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
fragile X-associated tremor/ataxia syndrome
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
KANSL1-related intellectual disability syndrome
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).
inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene.
infantile cerebellar-retinal degeneration
A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene.
intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
An adrenal adenoma that is a benign tumor of the adrenal cortex.
An adrenal medulla cancer that is characterized by overproduction of adrenaline.
A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
A bone carcinoma that derives_from squamous epithelial cells.
A chondrosarcoma that is located_in bone.
A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
A spinal chordoma that is located_in the sacrum.
A brain oligodendroglioma located_in the corpus callosum.
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
infratentorial primitive neuroectodermal tumor
localized primitive neuroectodermal tumor
A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
A salivary gland cancer that has_material_basis_in epithelial cells.
A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
A sensory organ benign neoplasm that is located in the eye conjunctiva.
A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
mucosa-associated lymphoid tissue lymphoma
A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
An appendix cancer that has_material_basis_in neurodendocrine cells.
A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum.
A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells.
lung combined type small cell adenocarcinoma
A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
A vaginal cancer that has_material_basis_in epithelial cells.
A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells.
A tonsil cancer that has_material_basis_in squamous cells.
A pharynx cancer that has_material_basis_in squamous cells.
A gastrointestinal system cancer that has_material_basis_in epithelial cells.
spindle epithelial tumor with thymus-like differentiation tumor
A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
small intestine carcinoid neuroendocrine tumor
A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
An ovarian cancer that has_material_basis_in melanoctyes.
A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
sublingual gland adenoid cystic carcinoma
A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells.
An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
A retroperitoneal cancer that has_material_basis_in immature nerve cells.
A breast carcinoma that derives_from breast lobules (milk glands).
A uterine corpus cancer that is derived_from the inner lining of the uterus.
An endocervical carcinoma that derives_from epithelial cells of glandular origin.
hereditary hypophosphatemic rickets with hypercalciuria
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
autosomal dominant hypophosphatemic rickets
A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
autosomal recessive hypophosphatemic rickets
A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
A hereditary ataxia that has_material_basis_in autosomal recessive inheritance.
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
autosomal dominant cerebellar ataxia, deafness and narcolepsy
cerebellar ataxia, mental retardation and dysequlibrium syndrome
An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
nonprogressive cerebellar atxia with mental retardation
autosomal recessive spinocerebellar ataxia 10
An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
autoimmune disease of central nervous system
An autoimmune disease of the central nervous system.
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
A severe combined immunodeficiency that affects the development and function of T cells.
A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
recombinase activating gene 1 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
recombinase activating gene 2 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
X-Linked Severe Combined Immunodeficiency
A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
autoimmune disease of eyes, ear, nose and throat
A hypersensitivity reaction type II disease of the eyes, ears, nose and throat.
autoimmune disease of gastrointestinal tract
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
autoimmune disease of musculoskeletal system
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
autoimmune disease of peripheral nervous system
An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
autoimmune disease of skin and connective tissue
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
A disease of mental health that involves the impairment in normal sexual functioning.
A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
A specific phobia that involves an irrational fear of contracting a disease.
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
autoimmune disease of cardiovascular system
A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.
A neuropathy that is located_in nerves of the peripheral nervous system.
An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1.
An immune system disease that is caused by abnormal immune responses.
A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
familial juvenile hyperuricemic nephropathy
A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
sideroblastic anemia with spinocerebellar ataxia
pyridoxine-refractory autosomal recessive sideroblastic anemia
pyridoxine-responsive sideroblastic anemia
A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
estrogen-receptor positive breast cancer
estrogen-receptor negative breast cancer
progesterone-receptor positive breast cancer
progesterone-receptor negative breast cancer
An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
A benign neoplasm that is classified by the organ system from which it is arising from.
female reproductive organ benign neoplasm
An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
central nervous system organ benign neoplasm
An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
An organ system benign neoplasm located_in the immune system organs.
A connective tissue benign neoplasm that is located_in bone.
A nervous system benign neoplasm that is located_in a sensory organ.
An organ system benign neoplam that is located_in the thoracic cavity.
An organ system benign neoplasm that is located_in the muscular and skeletal organs.
An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
A cell type benign neoplasm that has_material_basis_in glial cells.
central nervous system primitive neuroectodermal neoplasm
A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
A brain cancer that has_material_basis_in glial cells.
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
A nervous system cancer that is located_in the sensory system.
An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
A disease of anatomical entity that is located_in the thoracic cavity.
A gastrointestinal system cancer that is located_in the pharynx.
An organ system benign neoplasm located_in the integumentary system organs.
An organ system cancer that is located_in the skin, hair and nails.
A musculoskeletal system benign neoplasm that is located_in connective tissue.
A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
A heavy chain disease that results from an overproduction of gamma antibody (IgG).
A heavy chain disease that results from an overproduction of mu antibody (IgM).
A heavy chain disease that results from an overproduction of delta antibody (IgD).
An agnosia that is a loss of motion perception.
An agnosia that is a deficiency in understanding, processing, or describing emotions.
An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
An agnosia that is a loss of the ability to distinguish visual shapes.
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
An agnosia that is a loss of the ability to orient parts of the body.
An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
An agnosia that is a loss of the ability to distinguish the fingers on the hand.
An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
An agnosia that is a loss of the ability to perceive and process pain.
An agnosia that is a loss of the ability to recognize familiar voices.
An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
An agnosia that is a loss of the ability to comprehend the succession and duration of events.
An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
An agnosia that is a loss of the ability to visually recognize objects.
An agnosia that is a loss of the ability to comprehending the meaning of written words.
An alopecia areata that involves diffuse loss of hair over the whole scalp.
A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
survival motor neuron spinal muscular atrophy
A spinal muscular atrophy that is associated with the survival of motor neuron protein.
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.
X-linked Spinal and Bulbar Muscular Atrophy
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.
A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
A histidine metabolism disease that involves a deficiency of the enzyme histidase.
An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
generalized epilepsy with febrile seizures plus
An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Gamma-amino butyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency
succinic semialdehyde dehydrogenase deficiency
A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
gamma-amino butyric acid metabolism disorder
An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
An inflammatory bowel disease that involves inflammation located_in colon.
A colitis caused_by inadequate blood supply to the colon.
A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
A colitis characterized by a distinctive thickening of the subepithelial collagen table.
Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
A colitis characterized by an overgrowth of Clostridium difficile bacteria.
A colitis caused_by introduction of various chemicals.
A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
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.
An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
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.
The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
amyotrophic lateral sclerosis 2, juvenile
A type of ALS with loci associated with the disease located_in chromosome 18.
A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
amyotrophic lateral sclerosis 4, juvenile
distal hereditary motor neuropathy with pyramidal features
distal hereditary motor neuropathy with upper motor neuron signs
A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.
A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
autosomal recessive amyotrophic lateral sclerosis 6
A type of ALS with loci associated with the disease located_in chromosome 20.
A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility.
An association between 29 or more CAG repeats and the development of ALS13 exists.
A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9.
amyotrophic lateral sclerosis, with or without frontotemporal dementia
A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9.
amyotrophic lateral sclerosis 16, juvenile
A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
CHMP2B-related amyotrophic lateral sclerosis
A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5.
A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
amyotrophic lateral sclerosis and/or frontotemporal dementia
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
frontotemporal dementia and/or motor neuron disease
A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers.
A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
OWL also bilateral audiovestibular deficits.
A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
An urticaria induced by external physical influences.
A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
familial aneurysmal subarachnoid hemorrhage
A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
childhood-onset idiopathic basal ganglia calcification
A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
osteogenesis imperfecta with congenital joint contractures
A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
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.
infantile carnitine palmitoyltransferase II deficiency
late-onset carnitine palmitoyltransferase II deficiency
lethal neonatal carnitine palmitoyltransferase II deficiency
A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
A hereditary spastic paraplegia associated with dementia.
autosomal recessive spastic paraplegia 21
A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
X-linked complicated hereditary spastic paraplegia type 1
An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
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.
A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
acral dysostosis with facial and genital abnormalities
A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.
A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
An eye disease characterized by the drooping or falling of the upper or lower eyelid.
A ptosis characterized by eyelid drop present at birth.
A gastrointestinal system disease that is located_in the gallbladder.
primary pigmented nodular adrenocortical disease
An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
persistent hyperplastic primary vitreous
combined oxidative phosphorylation deficiency
A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
blepharophimosis-intellectual disability syndrome, SBBYS type
Say-Barber-Biesecker-Young-Simpson syndrome
A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
autosomal dominant chondrodysplasia punctata
An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene.
congenital secretory chloride diarrhea 1
A secretory diarrhea caused_by mutation in the SLC26A3 gene.
congenital chloride diarrhea finnish type
type I complement component 8 deficiency
type II complement component 8 deficiency
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene.
An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
autosomal dominant non-syndromic intellectual disability
A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
autosomal dominant non-syndromic mental retardation
autosomal recessive non-syndromic intellectual disability
A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.
autosomal recessive non-syndromic mental retardation
syndromic X-linked intellectual disability
A syndromic intellectual characterized by an X-linked inheritance pattern.
An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
A cheilitis characterized by inflammation of one or both of the corners of the mouth.
A tracheal disease characterized by flaccidity of the tracheal support cartilage.
A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
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.
An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
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.
An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
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.
An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
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.
A breast disease characterized by a collection of pus in the breast.
A tooth disease characterized by a localized collection of pus associated with a tooth.
A cervix disease characterized by a benign polyp on the surface of the cervical canal.
A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
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.
An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
anhidrotic ectodermal dysplasia with cleft lip/palate
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
parameningeal embryonal rhabdomyosarcoma
An embryonal rhabdomyosarcoma located in the parameningeal region.
chronic atrial and intestinal dysrhythmia
A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
agnathia-holoprosencephaly-situs inversus syndrome
dysgnathia complex agnathia-holoprosencephaly
A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
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.
A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13.
A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
hypoparathyroidism-retardation-dysmorphism syndrome
An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.
hypoparathyroidism with short stature, mental retardation and seizures
lymphedema, microcephaly and chorioretinopathy syndrome
A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
chorioretinal dysplasia-microcephaly-mental retardation syndrome
lymphedema and retinal folds with ficrocephaly and microphthalmos
microcephaly lymphedema chorioretinal dysplasia
microcephaly, lymphedema, chorioretinal dysplasia syndrome
adenine phosphoribosyltransferase deficiency
An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.
mitochondrial complex III deficiency nuclear type 2
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11.
A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern.
An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35.
amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3.
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1.
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 is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
electron transfer flavoprotein deficiency
electron transfer flavoprotein ubiquinone oxidoreductase deficiency
An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
hereditary papulotranslucent acrokeratoderma
A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
punctate palmoplantar keratoderma type III
punctate palmoplantar hyperkeratosis type 3
punctate palmoplantar keratoderma type 3
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21.
An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.
microcephaly, hiatal hernia and nephrotic syndrome
nephrosis-neuronal dysmigration syndrome
mandibulofacial dysostosis with alopecia
A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
Hennekam lymphangiectasia-lymphedema syndrome
lymphedem-lymphangiectasia-intellectual disability syndrome
A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1.
autosomal recessive juvenile Parkinson disease 2
A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27.
A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12.
autosomal recessive early-onset Parkinson disease 6
autosomal recessive early-onset Parkinson disease 7
A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12.
autosomal recessive early-onset Parkinson disease 15
A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3.
polydactyly, postaxial, with median cleft of upper lip
Joubert syndrome with orofaciodigital defect
A Joubert syndrome subtype with orofaciodigital defect.
orofaciodigital syndrome with fibular aplasia
orofaciodigital syndrome with retinal abnormalities
acrofacial dysostosis, syndrome of Rodriguez
terminal chromosome 10q26 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 16p11.2 deletion syndrome, 220kb
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 17q11.2 deletion syndrome, 1.4Mb
neurofibromatosis type 1 microdeletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
proximal 16p11.2 microduplication syndrome
chromosome 17p13.3 centromeric duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 22q11.2 microduplication syndrome
An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
combined granular-lattice corneal dystrophy
Francois-Neetens speckled corneal dystrophy
primary familial amyloidosis of the cornea
juvenile hereditary epithelial dystrophy
anterior limiting membrane dystrophy type I
corneal dystrophy of Bowman layer type I
subepithelial mucinous corneal dystrophy
anterior limiting membrane dystrophy type II
corneal dystrophy of Bowman layer type II
corneal dystrophy crystalline of Schnyder
hereditary crystalline stromal dystrophy of Schnyder
posterior polymorphous corneal dystrophy
hereditary polymorphus posterior corneal dystrophy
chromosome 3q29 microduplication syndrome
chromosome Xp11.23-p11.22 duplication syndrome
microduplication Xp11.22-p11.23 syndrome
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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.
nuclear protein in testis midline carcinoma
An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
microcephaly-digital anomalies-normal intelligence syndrome
microcephaly-oculo-digito-esophageal-duodenal syndrome
oculo-digito-esophageal-duodenal syndrome
A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.
A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation.
A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
hereditary acrokeratotic poikiloderma of Kindler-Weary
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.
autosomal recessive benign erythrocytosis
childhood onset epileptic encephalopathy
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
renal hamartomas, nephroblastomatosis and fetal gigantism
Zika fever
A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes.
url: http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx
url: https://en.wikipedia.org/wiki/Zika_fever
Shwachman-Diamond syndrome
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
pancreatic insufficiency and bone marrow dysfunction
left ventricular noncompaction
An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
Goldberg-Shprintzen syndrome
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
oculoauricular syndrome
A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
MEDNIK syndrome
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
erythrokeratodermia variabilis, Kamouraska type
mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
EAST syndrome
A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
epilepsy, ataxia, sensorineural deafness and tubulopathy
seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Mowat-Wilson syndrome
A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Hirschsprung disease mental retardation syndrome
microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Perry syndrome
parkinsonism with alveolar hypoventilation and mental depression
A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
Pitt-Hopkins syndrome
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
A disease of cellular proliferation that results in an abnormal mass of tissue.
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
A musculoskeletal system disease that affects the muscles.
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
A bone disease that results_in formation or resorption abnormalities located_in bone.
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
A bone structure disease that results_in change or damage of structure located_in bone.
A bone disease that results_in an interruption of blood supply located_in bone.
A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
A bone remodeling disease that results in an abnormal decrease of bone density or mass.
A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
OPCA with dementia and extrapyramidal signs
An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Murk Jansen Type Metaphyseal Chondrodysplasia
A metaphyseal dysplasia that results_in dwarfism and bowed legs.
Japanese type spondylometaphyseal dysplasia
A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
Shwachman-Diamond type metaphyseal dysplasia
An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
spondyloepimetaphyseal dysplasia, Strudwick type
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
autosomal recessive spinocerebellar ataxia 16
spondyloepimetaphyseal dysplasia, Missouri type
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
autosomal dominant endosteal hyperostosis
benign form of Worth hyperostosis corticalis generalisata with torus platinus
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
An osteosclerosis that results_in coarsening located_in trabecular bone.
A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
autosomal recessive spinocerebellar ataxia 18
An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism.
An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
acromesomelic dysplasia, Hunter-Thompson type
An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 20
A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
hereditary motor and sensory neuropathy with pyramidal features
A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
hereditary motor and sensory neuropathy type 6
A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa.
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
nonsyndromic congenital nail disorder 10
alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
myopathy, lactic acidosis, and sideroblastic anemia
An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites.
respiratory syncytial virus bronchiolitis
A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
metastatic malignant neoplasm to the thyroid
secondary malignant neoplasm of thyroid gland
polyglandular activity in multiple endocrine adenomatosis
An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
papilledema associated with increased intracranial pressure
A small intestine cancer that is located_in the beginning section of the small intestine.
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
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.
Inflammatory disease of female pelvic organs and/or tissues
A tertiary neurosyphilis that results_in mild meningitis.
A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
familial atypical multiple mole-melanoma
regressing malignant melanoma of the skin
malignant giant pigmented nevus melanoma
malignant melanoma in congenital melanocytic naevus
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma (morphologic abnormality)
malignant melanoma in junctional nevus (morphologic abnormality)
A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium
A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
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.
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.
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.
Tapeworm infection: [intestinal taenia solium] or [pork]
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.
Congenital or acquired abnormality of vagina, with delivery
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.
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
Trypanosoma brucei rhodesiense infectious disease
A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
trypanosoma rhodesiense infectious disease
Trypanosoma brucei gambiense infectious disease
A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
degenerative disorder of eyelid and periocular area
A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
A vein disease that is characterized by impaired flow of blood through the veins.
venereal disease of peritoneum due to Chlamydia trachomatis
secondary malignant neoplasm to the thymus
secondary malignant neoplasm of mediastinum
A bone cancer that is manifested in the long bones of the lower limb.
A malignant neoplasm that is manifested in the lower limb.
malignant neoplasm of short bones of lower limb
malignant neoplasm of short bone of lower limb
malignant neoplasm of short bones of leg
malignant neoplasm of Meckel's diverticulum
A small intestine cancer that is located_in the ileum.
An intestinal cancer that is located_in the small intestine.
A gastrointestinal system cancer that is located_in the intestine.
An ischemic bone disease that results_in necrosis located_in bone.
Granuloma of lacrimal passages (disorder)
Focal retinitis and retinochoroiditis, juxtapapillary
Juxtapapillary focal retinitis AND retinochoroiditis (disorder)
A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
spindle cell lipoma (morphologic abnormality)
Lipoma of skin and subcutaneous tissue of face
Lipoma of skin and subcutaneous tissue of face (disorder)
Lipoma of skin and subcutaneous tissue of face NOS (disorder)
A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
A lipoma that is characterized by floret giant cells with overlapping nuclei.
Pleomorphic lipoma (morphologic abnormality)
Lipoma of intrathoracic organs (disorder)
Lipoma of external auditory meatus (disorder)
Lipoma of intra-abdominal organs (disorder)
An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
Chondroid lipoma (morphologic abnormality)
calculus of gallbladder and bile duct without cholecystitis
calculus of gallbladder and bile duct without cholecystitis, with obstruction
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.
Failed mechanical induction of labor, antepartum
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.
MSH:C538250 added from NeuroDevNet [WAK].
partial epilepsy, with impairment of consciousness, with intractable epilepsy
A leprosy that results in small numerous red irregularly shaped plaques.
An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
Histoplasma capsulatum with pericarditis (disorder)
Histoplasmosis with pericarditis (disorder)
Brown's tendon sheath syndrome (disorder)
A malignant neoplasm that is manifested in the pelvic region.
malignant neoplasm of rectum, rectosigmoid junction and anus
malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)
malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)
malignant neoplasm of rectum, rectosigmoid junction, and anus
malignant neoplasm of pelvic bones, sacrum and coccyx
Ca pelvic bones/sacrum/coccyx (disorder)
malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)
malignant neoplasm of pelvic bones, sacrum, and coccyx
malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)
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.
malignant neoplasm of pelvis NOS (disorder)
A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs.
Cholesterolosis of gallbladder (disorder)
Conjunctival degenerations and deposits (disorder)
vitamin A deficiency with conjunctival xerosis
vitamin A deficiency with conjunctival xerosis (disorder)
A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
Hairy cell leukemia of spleen (disorder)
Leukemic reticuloendotheliosis involving spleen
Leukemic reticuloendotheliosis of spleen (disorder)
subendocardial infarction acute myocardial infarction
Left bundle branch [block] or [hemiblock]
Left bundle branch hemiblock NOS (disorder)
A cardiovascular system disease that involves the heart's electrical conduction system.
schizo-affective type schizophrenia in remission
Pseudomonas intestinal infectious disease
A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
intestinal infection due to Pseudomonas (disorder)
intestinal infectious disease due to pseudomonas
Vasa previa complicating labor and delivery
Vasa previa complicating labor and delivery, unspecified as to episode of care
Vasa previa complicating labor and delivery, antepartum
Vasa previa complicating labor and delivery, delivered
A male reproductive organ cancer that is located_in the prostate.
A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
squamous cell carcinoma of prostate (disorder)
secondary malignant neoplasm of prostate (disorder)
malignant Phyllodes neoplasm of the prostate
Intermittent monocular esotropia (disorder)
Monocular intermittent esotropia (disorder)
Monocular esotropia with A pattern (disorder)
Monocular esotropia with V pattern (disorder)
Raynaud's syndrome (disorder) [Ambiguous]
A parotid disease characterized by the inflammation of one or both parotid glands.
A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.
A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen.
A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness.
A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech.
A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting.
A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
An interstitial lung disease that is caused by the inhalation of dust.
mixed mineral dust pneumoconiosis (disorder)
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
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.
Pneumoconiosis due to other silica or silicates
Pneumoconiosis due to silicates (disorder)
A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
disorder of optic chiasm due to vascular disorder
disorder of optic chiasm associated with vascular disorder
Congenital abnormality of skull and face bones (disorder)
Congenital anomalies of skull and face bones
Skull or face bone anomaly NOS (disorder)
Glaucomatous atrophy [cupping] of optic disc
Glaucomatous atrophy of optic disc (disorder)
Unspecified schizophrenia, subchronic state
simple type schizophrenia, unspecified state
Residual schizophrenia, subchronic state
subchronic residual schizophrenia (disorder)
subchronic latent schizophrenia (disorder)
Unspecified latent schizophrenia (disorder)
Aggressive NK-cell leukemia (morphologic abnormality)
large granular Lymphocyte Leukemia, NK-cell type
Fibrocystic disease of breast (disorder)
malignant tumor of epididymis (disorder)
secondary malignant neoplasm of epididymis (disorder)
An epididymis cancer that derives_from epithelial cells of glandular origin.
A leukemia that has_material_basis_in lymphoblasts (immature white blood cells).
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.
Deprivation amblyopia (disorder) [Ambiguous]
papilledema associated with decreased ocular pressure
Papilledema associated with decreased ocular pressure (disorder)
HPOA - hypertrophic pulmonary osteoarthropathy
hypertrophic pulmonary osteoarthropathy (disorder)
hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]
A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
chronic gonococcal seminal vesiculitis (disorder)
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
Gonococcal seminal vesiculitis (disorder)
Generalized infection during labor, delivered
antepartum generalized infection during labor
A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra.
Klippel-Feil deformity, deafness and facial asymmetry
autosomal dominant Klippel-Feil syndrome
congenital synostosis of cervical vertebrae
Keratoconus, stable condition (disorder)
A suppurative otitis media with sudden onset and a short course.
Nontraumatic rupture of muscle (disorder)
thyroid dysfunction complicating pregnancy, childbirth, or the puerperium
Thyroid dysfunction of mother, with delivery
An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur.
A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Infection by Legionella pneumophilia (disorder)
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.
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.
A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
diabetes mellitus juvenile type, uncontrolled, with neurological manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations
Mental disorder complicating pregnancy, childbirth, or the puerperium
Mental disorder of mother, with delivery
peripheral neuritis in pregnancy, with delivery
postpartum edema or excessive weight gain
A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain.
Enthesopathy of the wrist and carpus (disorder)
Enthesopathy of wrist and/or carpus (disorder)
Wrist or carpus enthesopathy NOS (disorder)
A muscular disease that is located_in the diaphragm.
hypertonic, incoordinate, or prolonged uterine contractions
Congenital atresia of esophagus (disorder)
A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Congenital atresia of anus (disorder) [Ambiguous]
Congenital or infantile occlusion of anus
transient disorder of initiating or maintaining wakefulness
Adrenal cortical hypofunction (disorder)
Corticoadrenal insufficiency NOS (disorder)
Syphilitic endocarditis of pulmonary valve (disorder)
generalized nonconvulsive epilepsy disease
generalized nonconvulsive epilepsy with intractable epilepsy
A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
Postmyocardial infarction syndrome (disorder)
A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis.
A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills.
A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
acute bacterial inflammation of external ear (disorder)
A otomycosis which is persistent and long-lasting or recurrent.
chronic mycotic otitis externa (disorder)
chronic mycotic otitis externa NOS (disorder)
A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
Unspecified disorder of pinna (disorder)
A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless.
Haemophilus influenzae pneumonia (disorder)
Pneumonia due to Hemophilus influenzae [H. influenzae]
Haemophilus influenzae infectious disease
Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters
Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)
Haemophilus influenzae infection (disorder)
Haemophilus influenzae infection, unspecified (disorder)
Developmental dislocation of ankle and foot joint
Developmental dislocation of forearm joint
Developmental dislocation of joint of multiple sites
Developmental dislocation of joint of pelvic region and thigh
Developmental dislocation of joint of shoulder region
Developmental dislocation of lower leg joint
Developmental dislocation of upper arm joint
A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting.
Chest infection - pneumococcal pneumonia
Pneumococcal pneumonia (disorder) [Ambiguous]
Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]
A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias.
A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
A gastrointestinal system cancer that is located_in the stomach.
Ca lesser curvature - stomach (disorder)
malignant neoplasm of lesser curve of stomach unspecified (disorder)
malignant tumor of body of stomach (disorder)
malignant tumor of greater curve of stomach (disorder)
malignant tumor of lesser curve of stomach (disorder)
A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart.
malignant granular cell tumor of stomach
malignant tumor of fundus of stomach (disorder)
glaucoma associated with chamber angle anomalies
Glaucoma associated with chamber angle anomalies (disorder)
malignant neoplasm of pylorus of stomach NOS (disorder)
An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.
malignant neoplasm of antrum of stomach NOS
malignant tumor of pyloric antrum (disorder)
diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations
glaucoma associated with congenital anomalies, dystrophies and systemic syndromes
Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes
A otosalpingitis with a sudden onset and a short course.
acute eustachian tube salpingitis (disorder)
A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.
Encephalitis due to acquired toxoplasmosis
Meningoencephalitis due to acquired toxoplasmosis (disorder)
Meningoencephalitis due to toxoplasmosis
A central nervous system disease that involves encephalitis which occurs along with meningitis.
A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
antepartum maternal hypotension syndrome
postpartum maternal hypotension syndrome
A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue.
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.
multiple papillomata due to yaws and wet crab 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.
A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
hereditary and idiopathic peripheral neuropathy
Galactosylceramide beta-galactosidase deficiency (disorder)
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.
MSH:D000326w added from NeuroDevNet [WAK].
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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
OMIM mapping submitted by NeuroDevNet. [LS].
A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
Idiopathic progressive polyneuropathy (disorder)
Unspecified idiopathic peripheral neuropathy
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
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.
Tuberculosis of pleura (disorder) [Ambiguous]
Tuberculous pleurisy, unspecified examination
tuberculous pleurisy in primary progressive tuberculosis
An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Neutral 1 amino acid transport defect (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.
Glucose: [intolerance] or [malabsorption]
An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
Bacterial overgrowth syndrome (disorder)
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.
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.
vitamin D hydroxylation-deficient rickets
A lymphatic system cancer that is located_in the lymph node.
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Infantile nephropathic cystinosis (disorder)
Fissure of nipple associated with childbirth
insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis
type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis
An eye disease where one or both eyeballs are abnormally small.
optic atrophy associated with retinal dystrophy
optic atrophy associated with retinal dystrophies
optic atrophy associated with retinal dystrophy (disorder)
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).
Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17.
chronic state latent schizophrenia with acute exacerbation
A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
acute inferolateral myocardial infarction
acute anterolateral myocardial infarction
A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
Open-angle glaucoma residual stage (disorder)
Residual stage of open angle glaucoma (disorder)
A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
galactorrhea not associated with childbirth
Galactorrhea due to non-obstetric cause (disorder)
Galactorrhea not associated with childbirth (disorder)
Inflammatory disorder of breast (disorder)
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.
A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs.
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
malignant neoplasm of broad ligament of uterus
chronic pyelonephritis with lesion of renal medullary necrosis
A otitis which involves inflammation of the middle ear.
An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
An artery disease characterized by chronic elevated blood pressure in the arteries.
High blood pressure (& [essential hypertension])
liver abscess and sequelae of chronic liver disease
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida.
filarial infectious disease and dracontiasis
A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands.
A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
Premature menopause NOS (qualifier value)
A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
Infectious Disease by Setaria (disorder)
A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
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.
(maxillary sinusitis) or (chronic antritis)
A maxillary sinusitis which lasts for 12 weeks or more.
A sphenoid sinusitis which lasts for 12 weeks or more.
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.
Congenital syphilitic encephalitis (disorder)
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
disease due to superfamily Filarioidea (disorder)
acute gonococcal epididymo-orchitis (disorder)
acute gastric ulcer with haemorrhage and perforation
acute gastric ulcer with hemorrhage AND obstruction (disorder)
acute gastric ulcer with hemorrhage AND perforation
acute gastric ulcer with hemorrhage AND perforation (disorder)
acute gastric ulcer with hemorrhage AND perforation [dup] (disorder)
acute gastric ulcer with hemorrhage AND with perforation but without obstruction
acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder)
acute gastric ulcer with hemorrhage and obstruction
acute gastric ulcer with hemorrhage and perforation, with obstruction
acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
acute gastric ulcer with hemorrhage, with obstruction
acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder)
acute gastric ulcer with perforation AND obstruction
acute gastric ulcer with perforation AND obstruction (disorder)
acute gastric ulcer with perforation, with obstruction
acute gastric ulcer without hemorrhage and without perforation
acute gastric ulcer without hemorrhage, without perforation AND without obstruction
acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder)
acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
chronic gastric ulcer without hemorrhage AND without perforation
chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder)
chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
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.
A respiratory system cancer that is located_in the nasal cavity.
Olfactory neuroblastoma of the nasal cavity
A duodenum cancer that derives_from epithelial cells of glandular origin.
Aseptic leptospiral meningitis (disorder)
A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
malignant essential hypertension (disorder)
A hypertension with no known cause. It is the most common type of hypertension.
gender identity disorder in adolescent or adult
Chylocele of tunica vaginalis (disorder)
diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled
Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled
diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled
Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma.
Neuroinvasive Eastern equine encephalitis virus infection
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
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.
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.
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
Neuroinvasive St. Louis encephalitis virus infection
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.
Unspecified paralytic strabismus (disorder)
Third or oculomotor nerve palsy, partial
Lateral rectus muscle denervation paresis
Lateral rectus muscle innervation disorder
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.
Exudative senile macular degeneration of retina
Neovascular age-related macular degeneration
disorganized type schizophrenia chronic state with acute exacerbation
Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)
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.
A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache.
A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb
Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)
Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)
An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
hydrocephalus, nonsyndromic, autosomal recessive
A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness.
An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites.
Enteric cytopathic human orphan virus infection
benign essential hypertension (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.
Transsexuality with asexual history (disorder)
A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
North Asian tick fever (disorder) [Ambiguous]
Hemoglobin S disease with crisis (disorder)
Hemoglobin SS disease with crisis (disorder)
Sickle cell anemia with crisis (disorder)
Hemoglobin S disease without crisis (disorder)
catatonic type schizophrenia chronic state
acute gastrojejunal ulcer with hemorrhage
acute gastrojejunal ulcer with hemorrhage AND obstruction
acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder)
acute gastrojejunal ulcer with hemorrhage AND perforation
acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction
acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder)
acute gastrojejunal ulcer with perforation
acute gastrojejunal ulcer with perforation AND obstruction
acute gastrojejunal ulcer with perforation AND obstruction (disorder)
acute gastrojejunal ulcer with perforation, with obstruction
acute gastrojejunal ulcer without hemorrhage AND without perforation
acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
acute gastrojejunal ulcer, with hemorrhage, with obstruction
chronic gastrojejunal ulcer without hemorrhage AND without perforation
chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
A personality disorder that is characterized by a pervasive psychological dependence on other people.
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.
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
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.
A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
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.
attention deficit hyperactivity disorder
A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
Enterobacter aerogenes intestinal infectious disease
An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
intestinal infection due to aerobacter aerogenes
Salmonella arizonae intestinal infectious disease
A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea.
intestinal infectious disease due to arizona group of paracolon bacilli
Escherichia coli intestinal infectious disease
A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting.
intestinal infectious disease due to Escherichia coli
Cholesteatoma of middle ear and/or mastoid
Unspecified cholesteatoma (morphologic abnormality)
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.
Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis
Nephrotic syndrome with lesion of minimal change nephrotic syndrome
A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
A spastic cerebral palsy that affects only one limb.
Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis.
A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
acute salpingitis and oophoritis NOS (disorder)
Salpingitis and oophoritis not specified as acute, subacute, or chronic
Salpingitis and oophoritis unspecified (disorder)
Salpingo-oophoritis unspecified (disorder)
Tubo-ovarian inflammatory disease (disorder)
Unspecified salpingitis and oophoritis NOS (disorder)
Membranous glomerulonephritis (disorder)
poliovirus type III nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type III
poliovirus type I nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type I
(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)
poliovirus type II nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type II
A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Conjunctival vascular abnormality NOS (disorder)
vascular abnormality of conjunctiva (disorder)
Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
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.
acute haemorrhagic leucoencephalitis of Weston Hurst
acute necrotizing hemorrhagic leukoencephalitis
Post-infectious encephalitis NOS (disorder)
chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis
Miotic cyst of pupillary margin (disorder)
degeneration of pupillary margin (disorder)
Stenosis of rectum and anus NOS (disorder)
Post-surgical testicular hypofunction (disorder)
Postablative testicular hypofunction (disorder)
Postablative testicular hypofunction NOS (disorder)
Postsurgical testicular hypofunction (disorder) [Ambiguous]
chronic glomerulonephritis with lesion of proliferative glomerulonephritis
chronic glomerulonephritis with lesion of membranous glomerulonephritis
malignant esophageal neoplasm by topographic region
secondary corneal edema [dup] (disorder)
Idiopathic corneal edema [dup] (disorder)
Corneal edema due to wearing of contact lenses
chronic rapidly progressive glomerulonephritis
chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis
chronic rapidly progressive glomerulonephritis (disorder)
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.
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Rheumatoid arthritis with splenoadenomegaly and leukopenia
Neonatal aspiration of meconium (disorder)
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
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.
A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
Liveborn with birth asphyxia NOS (disorder)
Unspecified severity of birth asphyxia in liveborn infant
Perinatal respiratory problems NOS (disorder)
Unspecified respiratory condition of fetus and newborn
respiratory condition of fetus OR newborn (disorder)
A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.
Salmonellosis (& [gastroenteritis] or [food poisoning])
A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting.
A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever.
primary Rickettsiaceae infectious disease
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.
Infection due to Coxiella burnetii (disorder)
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back.
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
Spotted fever group rickettsial disease (disorder)
A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
glaucoma associated with anterior segment anomaly
Glaucoma associated with anterior segment anomaly (disorder)
Glaucoma associated with other anterior segment anomalies
glaucoma associated with ocular disorder
malignant neoplasm of cervical part of esophagus
malignant neoplasm of cervical esophagus
malignant neoplasm of cervical oesophagus
malignant neoplasm of the cervical esophagus
malignant tumor of cervical part of esophagus (disorder)
psychosexual dysfunction with female orgasmic disease
Syphilitic retrobulbar neuritis (disorder)
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
malignant neoplasm of neck NOS (disorder)
Autoimmune purpura (disorder) [Ambiguous]
Purpura: [allergic] or [Henoch-Schonlein allergy]
Qualitative platelet deficiency NOS (disorder)
secondary thrombocytopenia NOS (disorder)
malignant esophageal neoplasm by anatomic region
Dislocation of lacrimal gland (disorder)
An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
vascular lesions of cord complicating labor and delivery
antepartum vascular lesions of cord complicating labor and delivery
vascular lesions of cord complicating labor and delivery, delivered
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
glaucoma due to raised episcleral venous pressure
Glaucoma with increased episcleral venous pressure
Glaucoma with increased episcleral venous pressure (disorder)
disorder of optic chiasm associated with non-pituitary neoplasm
disorder of optic chiasm associated with non-pituitary neoplasm (disorder)
disorder of optic chiasm associated with other neoplasm
A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
A lung disease characterized by inadequate gas exchange by the respiratory system.
acute-on-chronic respiratory failure (disorder)
A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
Human papilloma virus infection (disorder)
human papilloma virus infectious disease
An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts.
A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
Anogenital Human papilloma Virus Infectious Disease
An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts.
An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts.
An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts.
An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts.
Total internal ophthalmoplegia (disorder)
Total or complete internal ophthalmoplegia
A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.
A otitis media which involves transudation of fluid in the middle ear without pus formation.
Non-suppurative otitis media NOS (disorder)
Nonsuppurative otitis media, not specified as acute or chronic
Unspecified non-suppurative otitis media (disorder)
A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting.
Hemophilus influenzae septicemia (disorder)
Septicemia due to hemophilus influenzae [H. influenzae]
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
large for dates affecting management of mother
Excessive fetal growth affecting management of mother, delivered
Excessive fetal growth, affecting management of mother, antepartum
Excessive fetal growth, affecting management of mother, delivered
antepartum excessive fetal growth affecting management of mother
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.
Pseudomembranous conjunctivitis (disorder)
A synostosis that results_in the fusion of two or more digits.
An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
serous conjunctivitis, except viral (disorder)
A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
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.
esophageal varices in disease classified elsewhere, with bleeding
esophageal varices with bleeding in disease EC (disorder)
esophageal varices without bleeding (disorder)
esophageal varices without mention of bleeding
An endocrine system disease that is located_in the parathyroid gland.
familial benign hypercalcemia (disorder)
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.
A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
acute contagious conjunctivitis (disorder)
premature rupture of the fetal membranes
Premature rupture of membranes - delivered (disorder)
antepartum premature rupture of membranes
delivered premature rupture of membranes
chronic myringitis without mention of otitis media
acute follicular conjunctivitis (disorder)
Diverticulosis of small intestine with hemorrhage
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.
Unspecified acute orbit inflammation (disorder)
acute inflammation of orbit NOS (disorder)
acute inflammation of orbit, unspecified
A intestinal cancer that is located_in the appendix.
malignant neoplasm of appendix vermiformis
Transient neonatal neutropenia (disorder)
Transient neonatal neutropenia NOS (disorder)
Disseminated intravascular coagulation in newborn
Disseminated intravascular coagulation in newborn (disorder)
Diffuse or disseminated intravascular coagulation
Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)
vitamin K deficiency hemorrhagic disease
An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
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.
Epidemic louse-borne typhus fever due to Rickettsia prowazekii
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.
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.
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
Cytomegaloviral disease, unspecified (disorder)
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.
A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.
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.
Chlamydia trachomatis infectious disease
A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.
A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
vitamin A deficiency with keratomalacia (disorder)
chronic apical periodontitis NOS (disorder)
hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium
hypertension secondary to renal disease, antepartum
hypertension secondary to renal disease, postpartum
hypertension secondary to renal disease, with delivery
Toxic nodular goiter unspecified (disorder)
A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
conditions involving the integument and temperature regulation of fetus and newborn
Air-conditioner and humidifier lung (disorder)
An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
Racemose aneurysm (morphologic abnormality)
Racemose hemangioma (morphologic abnormality)
Occlusion and stenosis of vertebral artery
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.
subchronic state latent schizophrenia with acute exacerbation
Latent schizophrenia in remission (disorder)
Mobitz type II atrioventricular block (disorder)
An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions.
Histoplasma duboisii with retinitis (disorder)
A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions.
Histoplasmosis with retinitis (disorder)
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems.
acute schizophrenic episode subchronic state with acute exacerbation
A psychotic disorder that involves schizophrenia symptoms over time period of one month.
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.
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
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.
Infection due to Clostridium tetani (disorder)
An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever.
An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions.
Infection by Pneumocystis carinii (disorder)
A lung disease that is a mycosis caused by fungal growth in the lungs.
epilepsia partialis continua with intractable epilepsy
Diverticulum of bladder (disorder) [Ambiguous]
calculus in diverticulum of bladder (disorder)
A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia.
Sandfly-borne bunyavirus fever (disorder)
A colonic disease that is characterized by an abnormal dilation of the colon.
Megacolon excluding Hirschsprung's disease
Megacolon excluding Hirschsprung's disease (disorder)
Megacolon, not Hirschsprung's (disorder)
calculus of gallbladder and bile duct with acute cholecystitis
calculus of gallbladder and bile duct with acute cholecystitis, with obstruction
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.
Infectious Disease by Gnathostoma (disorder)
Corneal neovascularization NOS (disorder)
Unspecified corneal neovascularization (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.
Developmental expressive language disorder
Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine.
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.
Non-cardiogenic pulmonary edema (disorder)
A cardiovascular system disease that involves the heart.
Xanthogranulomatous pyelonephritis (disorder)
Drug-induced depressive state (disorder)
A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough.
A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
Syphilitic disseminated retinochoroiditis (disorder)
Alternating exotropia with V pattern (disorder)
A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination.
acquired cavovarus deformity of foot (disorder)
Endometriosis of fallopian tube (disorder)
Endometriosis of pelvic peritoneum (disorder)
Endometriosis of the pelvic peritoneum NOS (disorder)
Divergent concomitant strabismus (disorder)
Endometriosis in scar of skin (disorder)
endometriosis of rectovaginal septum and vagina
Endometriosis of rectovaginal septum and vagina (disorder)
Endometriosis of the rectovaginal septum and vagina NOS (disorder)
recurrent cholesteatoma post-mastoidectomy
recurrent cholesteatoma of postmastoidectomy cavity
recurrent cholesteatoma of postmastoidectomy cavity (disorder)
malignant mast cell tumors involving lymph node of head
Mast cell malignancy of lymph nodes of head, face and neck (disorder)
malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)
malignant mast cell tumors involving lymph nodes of head, face, and neck
A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.
acute secondary syphilitic meningitis (disorder)
perinatal jaundice due to hepatocellular damage
Perinatal jaundice due to hepatocellular damage (disorder)
Perinatal jaundice due to hepatocellular damage NOS (disorder)
benign intracranial hypertension (disorder)
malignant tumor of subglottis (disorder)
A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
Constrictive pericarditis NOS (disorder)
A pericardial effusion that results from blood in the pericardial sac.
idiopathic peripheral autonomic neuropathy
Idiopathic peripheral autonomic neuropathy (disorder)
Idiopathic peripheral autonomic neuropathy NOS (disorder)
vitamin A deficiency with conjunctival xerosis and Bitot's spot
vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)
vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)
vitamin A deficiency with night blindness
vitamin A deficiency with night blindness (disorder)
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.
bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium
bone and joint disorder of back, pelvis and lower limbs of mother, antepartum
bone and joint disorder of back, pelvis and lower limbs of mother, postpartum
bone and joint disorder of back, pelvis and lower limbs of mother, with delivery
bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum
bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum
bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery
Congenital insufficiency of mitral valve (disorder)
Diabetic autonomic neuropathy (disorder)
A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
Suppurative and unspecified otitis media
Suppurative and unspecified otitis media (disorder)
Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media
An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
A heart disease that is caused by high blood pressure.
benign hypertensive renal disease (disorder)
hypertensive renal disease, benign, without mention of renal failure
A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas.
Food poisoning due to Clostridium perfringens (disorder)
Food poisoning due to Clostridium perfringens [C. welchii]
food poisoning due to clostridium perfringens
vascular disorder of iris and ciliary body
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.
Endothelial corneal dystrophy (disorder) [Ambiguous]
Posterior membrane corneal dystrophy (disorder)
A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
A acute transudative otitis media with thin, watery and sterile effusion.
acute non-suppurative otitis media - serous (disorder)
acute serous otitis media (disorder) [Ambiguous]
A acute serous otitis media caused by an allergen.
acute allergic serous otitis media (disorder)
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
calcium pyrophosphate deposition disease
A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities.
Cardiovascular malfunction arising from mental factors
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.
Infection due to Listeria monocytogenes (disorder)
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.
acute schizophrenic episode in remission
malignant neoplasm of lateral wall of urinary bladder
malignant neoplasm of lateral wall of urinary bladder (disorder)
Cold injury syndrome of newborn (disorder)
secondary malignant neoplasm of lymph nodes of multiple site
secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)
secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)
secondary and unspecified malignant neoplasm of lymph nodes of multiple sites
secondary malignant neoplasm of lymph nodes of multiple sites (disorder)
breast engorgement in newborn (disorder)
Hydrops fetalis not due to isoimmunization
Idiopathic hydrops fetalis (disorder) [Ambiguous]
A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses.
A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
malignant neoplasm of penis, part unspecified
malignant neoplasm of penis, part unspecified (disorder)
malignant tumor of body of penis (disorder)
Generalized thyroid hormone resistance (disorder)
Thyroid hormone resistance syndrome (disorder)
Thyroid hormone responsiveness defect (disorder)
Transitory tachypnea of newborn (disorder)
Bronchopulmonary dysplasia of newborn (disorder)
primary acquired melanosis of conjunctiva (disorder)
A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
Cicatricial pemphigoid with ocular involvement
benign mucous membrane pemphigoid with ocular involvement
A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
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.
Infection by Onchocerca volvulus (disorder)
A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness.
glaucoma associated with systemic syndromes
Glaucoma associated with systemic syndromes (disorder)
acute apical periodontitis of pulpal origin
acute apical periodontitis of pulpal origin (disorder)
A vein disease that is characterized by a blood clot that forms within the hepatic portal vein.
A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe.
Tuberculosis of intrathoracic lymph nodes (disorder)
Tuberculosis of intrathoracic lymph nodes NOS (disorder)
Tuberculosis of intrathoracic lymph nodes, unspecified examination
A cardiovascular cancer located_in the heart.
A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
Selective immunoglobulin A deficiency (disorder)
A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
familial type 5 hyperlipoproteinemia (disorder)
A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.
diabetes mellitus syndrome in newborn infant
A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
Oculopharyngeal muscular dystrophy (disorder)
Fredrickson type IV hyperlipoproteinemia (disorder)
Glycogen storage disease, type VII (disorder)
Muscle phosphofructokinase deficiency (disorder)
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
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.
(Congenital cystic liver disease) or (congenital hepatic cyst)
Congenital cystic disease of liver (disorder)
Congenital cystic liver disease (disorder)
Congenital cystic liver disease NOS (disorder)
Aneurysm of aorta, specified as syphilitic
Manic disorder, single episode, in full remission
Single manic episode in full remission (disorder)
A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress.
malignant neoplasm of round ligament (disorder)
malignant neoplasm of round ligament of uterus
A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose .
biliary calculus with acute cholecystitis
calculus of bile duct with acute cholecystitis
bile duct calculus with acute cholecystitis and obstruction
bile duct calculus with acute cholecystitis and obstruction (disorder)
bile duct calculus with acute cholecystitis and obstruction NOS (disorder)
calculus of bile duct with acute cholecystitis with obstruction (disorder)
calculus of bile duct with acute cholecystitis, with obstruction
A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
Hereditary edema of legs [dup] (disorder)
A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
partial loss or necrosis of ear ossicles
chronic congestive splenomegaly (disorder)
A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
malignant neoplasm of urinary bladder neck
malignant tumor of bladder neck (disorder)
secondary malignant neoplasm of bladder (disorder)
malignant neoplasm of posterior wall of urinary bladder (disorder)
A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
malignant neoplasm of trigone of urinary bladder
malignant tumor of trigone of bladder (disorder)
malignant tumor of trigone of urinary bladder (disorder)
malignant neoplasm of anterior wall of urinary bladder (disorder)
malignant neoplasm of ureteric orifice of urinary bladder
malignant tumor of ureteric orifice (disorder)
A urinary system cancer that is located_in the ureter.
malignant neoplasm of apex of urinary bladder
malignant neoplasm of dome of urinary bladder
malignant tumor of vault of bladder (disorder)
A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
visual cortex disorder due to vascular disorder
degenerative progressive high myopia (disorder)
nephrotic syndrome with lesion of membranoproliferative glomerulonephritis
A refractive error characterized by the inability to see farther objects clearly.
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
malignant neoplasm of scapula and long bones of upper limb
A sarcoma and malignant neoplasm of penis that is located_in the penis.
malignant tumor of glans penis (disorder)
Congenital anomaly of coronary artery (disorder)
Ciliary body degenerative changes (disorder)
degenerative changes of ciliary body (disorder)
A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
Syphilitic endocarditis of aortic valve (disorder)
Monocular exotropia with A pattern (disorder)
Intermittent monocular exotropia (disorder)
Monocular intermittent exotropia (disorder)
Monocular exotropia with V pattern (disorder)
Focal choroiditis and chorioretinitis, peripheral
peripheral focal choroiditis AND chorioretinitis (disorder)
Tibial neuropathy (disorder) [Ambiguous]
Septicemia due to Staphylococcus aureus (disorder)
abnormal dark adaptation curve (disorder)
abnormal dark adaptive curve NOS (disorder)
malignant neoplasm of nipple and areola of female breast (disorder)
malignant neoplasm of nipple or areola of female breast NOS (disorder)
A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa.
An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body.
A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye.
A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence.
A female reproductive system cancer that is located_in the vagina.
An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses.
malignant neoplasm of labia majora (disorder)
malignant neoplasm of labia majora NOS (disorder)
Gastroparesis syndrome (disorder) [Ambiguous]
(Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris)
A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
Dermatophytosis of Groin and Perianal Area
Dermatophytosis of groin and perianal area (disorder)
Dermatophytosis of groin and perianal area NOS (disorder)
A nervous system cancer that is located_in the peripheral nervous system.
A respiratory system cancer that is located_in the trachea.
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.
schizo-affective type schizophrenia subchronic state
A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area.
Trichomonal vaginitis &/or vulvovaginitis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis.
A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color.
Habitual aborter - unspecified (disorder)
recurrent major depression in complete remission
Major depressive disorder, recurrent episode, in full remission
recurrent major depression in complete remission (disorder)
recurrent major depressive episodes, in full remission (disorder)
Ischemic peripheral neuropathy (disorder)
Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium
antepartum congenital cardiovascular disorder of mother
postpartum congenital cardiovascular disorder of mother
Congenital cardiovascular disorder of mother, with delivery
psychosexual dysfunction with inhibited sexual excitement
An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions.
Histoplasma capsulatum with retinitis (disorder)
symptomatic menopausal or female climacteric state
A dysostosis that results_in abnormal fusing of adjacent bones.
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.
Food poisoning due to Clostridium botulinum
Intoxication with Clostridium botulinum toxin
disorder of magnesium metabolism (disorder)
disorder of magnesium metabolism NOS (disorder)
chronic pyelonephritis without lesion of renal medullary necrosis
An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
gonococcal infectious disease of anus and rectum
A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion.
An osteosclerosis that results_in numerous bone islands located_in skeleton.
Torsion of testis unspecified (disorder)
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.
malignant neoplasm of female genital organ
secondary malignant neoplasm of trachea (disorder)
A sarcoma and malignant tumor of trachea that is located_in the trachea.
squamous cell carcinoma of trachea (disorder)
malignant neoplasm of frontal lobe (disorder)
A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly.
Group B streptococcal pneumonia (disorder)
A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst.
malignant neoplasm of corpus uteri, except isthmus
malignant neoplasm of corpus uteri, excluding isthmus (disorder)
leukemic reticuloendotheliosis of intrathoracic lymph nodes
Leukemic reticuloendotheliosis involving intrathoracic lymph nodes
Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)
Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)
spontaneous abortion complicated by genital tract and pelvic infectious disease
spontaneous abortion, unspecified, complicated by genital tract and pelvic infection
An adrenal admenoma characterized by over production of aldosterone.
arthropathy due to hypersensitivity reaction
Arthropathy associated with a hypersensitivity reaction (disorder)
Arthropathy associated with hypersensitivity reaction
Hydrops fetalis due to isoimmunization (disorder)
Hydrops fetalis due to isoimmunization [dup] (disorder)
Kernicterus due to isoimmunization (disorder)
Kernicterus due to isoimmunization [dup] (disorder)
Kernicterus due to isoimmunization of fetus or newborn
hypersensitivity reaction type I disease
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion.
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species.
Trypanosomiasis with meningitis (disorder)
meningitis with clear cerebrospinal fluid
Fetal-maternal hemorrhage affecting management of mother
Fetal-maternal hemorrhage, with delivery
A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
Fetal blood loss, unspecified (disorder)
Dieulafoy lesion (hemorrhagic) of intestine
dieulafoy lesion (hemorrhagic) of stomach and duodenum
interstitial emphysema and related conditions of newborn
Transient arthropathy involving lower leg
Transient arthropathy involving multiple sites
Transient arthropathy involving pelvic region and thigh
Transient arthropathy involving shoulder region
Transient arthropathy involving upper arm
Deep vascularization of cornea (disorder)
vitamin A deficiency with corneal xerosis
vitamin A deficiency with corneal xerosis (disorder)
A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain.
Trigeminal neuralgia [no drugs here] (disorder)
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
vitamin A deficiency with corneal xerosis and ulcer
vitamin A deficiency with corneal ulceration AND xerosis (disorder)
vitamin A deficiency with corneal ulceration and xerosis
vitamin A deficiency with corneal xerosis and ulcer (disorder)
Inflammatory spondylopathies in disease EC (disorder)
Inflammatory spondylopathies in disease classified elsewhere
Inflammatory spondylopathy in disease classified elsewhere
Syphilitic endocarditis of tricuspid valve (disorder)
vitamin A deficiency with xerophthalmic corneal scar
vitamin A deficiency with xerophthalmic corneal scars (disorder)
vitamin A deficiency with xerophthalmic scars of cornea
vitamin A deficiency with xerophthalmic scars of cornea (disorder)
A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills.
Septic sore throat due to streptococcal infection
Streptococcal sore throat NOS (disorder)
pulmonary alveolar microlithiasis (disorder)
A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
secondary syphilitic periostitis (disorder)
Post-inflammatory pulmonary fibrosis (disorder)
Postinflammatory pulmonary fibrosis (disorder)
Neurotrophic keratoconjunctivitis (disorder)
An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
Tympanosclerosis of tympanic membrane and ossicles
Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)
Tympanosclerosis involving tympanic membrane and ear ossicles
An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
Yersinia enterocolitica intestinal infectious disease
A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children).
Infection by Yersinia enterocolitica (disorder)
infectious disease by Yersinia enterocolitica
intestinal infection due to yersinia enterocolitica
An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
acquired factor VIII deficiency disease (disorder)
acquired coagulation factor deficiency (disorder)
acquired coagulation factor deficiency NOS (disorder)
A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
chagas' disease with digestive system involvement
chagas' disease with nervous system involvement
chagas' disease with other organ involvement
An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion.
non-arthropod-borne meningitis due to adenovirus
neurogenic dysfunction of the urinary bladder (finding)
Detrusor and sphincter dyssynergia (disorder)
An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
Tympanosclerosis of tympanic membrane only
Tympanosclerosis involving tympanic membrane only
Tympanosclerosis involving tympanic membrane only (disorder)
calculus of gallbladder with acute cholecystitis, with obstruction
Cholelithiasis AND acute cholecystitis with obstruction (disorder)
gallbladder calculus with acute cholecystitis and obstruction (disorder)
gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)
A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting.
Lymphocytic choriomeningitis virus encephalomyelitis (disorder)
Lymphocytic meningoencephalitis (disorder)
peripheral degeneration of retina (disorder)
secondary pigmentary degeneration of retina
secondary pigmentary retinal degeneration (disorder)
Senile reticular retinal degeneration (disorder)
Microcystoid retinal degeneration (disorder)
Paving stone retinal degeneration (disorder)
secondary vitreoretinal degeneration (disorder)
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.
A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.
A labyrinthine disease characterized by an abnormal bone growth in the middle ear.
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.
disease due to Dicrocoeliidae (disorder)
malignant tumor of descending colon (disorder)
malignant tumor of splenic flexure (disorder)
malignant tumor of sigmoid colon (disorder)
Unspecified superficial keratitis (disorder)
punctate epithelial keratoconjunctivitis
Thygeson superficial punctate keratitis (disorder)
Thygeson's superficial punctate keratitis
A cancer by anatomical entitiy that affects the organs in the abdominal cavity.
Catatonic schizophrenia in remission (disorder)
Catatonic type schizophrenia, in remission
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.
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.
A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung.
A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis.
Infection by Wuchereria bancrofti (disorder)
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.
A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
Senile dementia of the Lewy body type (disorder)
Synovial, tendon or bursa disorder NOS (disorder)
Unspecified disorder of synovium, tendon, and bursa
specific bursitis often of occupational origin
Specific bursitides often of occupational origin
Specific bursitis often of occupational origin (disorder)
secondary malignant neoplasm of large intestine and rectum
secondary malignant neoplasm of large intestine and rectum (disorder)
secondary malignant neoplasm of large intestine or rectum NOS (disorder)
Hourglass stricture or stenosis of stomach
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
chronic nonsuppurative destructive cholangitis
squamous cell carcinoma of anal margin (disorder)
A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
Histoplasma capsulatum with endocarditis (disorder)
Histoplasmosis with endocarditis (disorder)
Histoplasmosis with meningitis (disorder)
An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
secondary malignant neoplasm of testis (disorder)
Congenital adrenal hyperplasia (disorder)
acquired factor IX deficiency disease (disorder)
An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
chronic salpingitis and oophoritis (disorder)
chronic salpingitis and oophoritis NOS (disorder)
Toxemia with convulsions complicating pregnancy, childbirth or the puerperium
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Anisometropia and aniseikonia (disorder)
Anisometropia or aniseikonia NOS (disorder)
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.
malignant neoplasm of undescended testis
malignant neoplasm of undescended testis NOS (disorder)
malignant tumor of retained testis (disorder)
malignant tumor of undescended testis (disorder)
paranoid type schizophrenia in remission
Phlebitis and thrombophlebitis of femoral vein (deep) (superficial)
Thrombophlebitis of deep femoral vein (disorder)
Thrombophlebitis of the femoral vein (disorder)
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
Crimean hemorrhagic fever [CHF Congo virus]
A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
paranoid type schizophrenia subchronic state
recurrent malignant endocervical neoplasm
A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
malignant neoplasm of intrahepatic bile ducts
malignant neoplasm of intrahepatic bile ducts NOS (disorder)
malignant neoplasm of intrahepatic biliary passages
malignant neoplasm of intrahepatic biliary passages (disorder)
malignant neoplasm of intrahepatic gall duct (disorder)
A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils.
Incontinentia pigmenti syndrome (disorder)
A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
Anterior corneal pigmentation (disorder)
Anterior corneal pigmentations (disorder)
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.
paranoid type schizophrenia subchronic state with acute exacerbation
An asthma that is characterized by chronic nonproductive cough without shortness of breath.
Transsexuality with homosexual history (disorder)
male genital organ stricture NOS (disorder)
male genital organ vascular disease (disorder)
vascular disorder of male genital organs
A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.
A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
acute alcoholic liver disease (disorder)
A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.
A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
Exophthalmos due to lateral displacement of globe (disorder)
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
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.
A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
Chest infection - unspecified bronchopneumonia
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
acute erythremia and erythroleukemia in remission
predominant disturbance of consciousness
An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
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.
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.
An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
vasopressin-resistant diabetes insipidus
vasopressin defective diabetes insipidus
leukemic reticuloendotheliosis involving lymph nodes of head, face and neck
Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck
Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)
Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)
Entropion and trichiasis of eyelid (disorder)
Entropion or trichiasis of eyelid NOS (disorder)
An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
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.
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin.
disorder of thyrocalcitonin secretion (disorder)
malignant neoplasm of labia minora (disorder)
An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
malignant neoplasm of vulva unspecified (disorder)
malignant neoplasm of vulva, unspecified
secondary hyperparathyroidism of renal origin
hyperparathyroidism due to renal insufficiency (disorder)
secondary hyperparathyroidism (of renal origin)
secondary hyperparathyroidism of renal origin (disorder)
secondary hyperparathyroidism (disorder)
postpartum coagulation defect with delivery
A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
hyperemia of conjunctiva (disorder) [Ambiguous]
Conjunctival vascular disorder and cysts
Conjunctival vascular disorder and cysts (disorder)
A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
simple type schizophrenia chronic state with acute exacerbation
An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
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.
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.
Lateral cutaneous femoral nerve of thigh compression or syndrome
A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands.
A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
Coccygeal hypermobility syndrome (disorder)
venereal disease of pharynx due to Chlamydia trachomatis
Chlamydial infection of anus and rectum (disorder)
Venereal disease of the anus and rectum due to Chlamydia trachomatis
A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
catatonic type schizophrenia subchronic state
catatonic type schizophrenia subchronic state with acute exacerbation
catatonic type schizophrenia chronic state with acute exacerbation
atrophic nonflaccid tympanic membrane (disorder)
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.
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
Septicemia due to escherichia coli [E. coli]
acute renal failure with lesion of renal cortical necrosis
acute renal Failure with tubular necrosis
acute renal failure with lesion of tubular necrosis
chronic progressive external ophthalmoplegia
chronic progressive external ophthalmoplegia [Ambiguous]
progressive external ophthalmoplegia (disorder)
An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Ulceration of vulva associated with another disease (disorder)
Ulceration of vulva in disease EC (disorder)
Ulceration of vulva in disease classified elsewhere
A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death.
Chagas' disease with heart involvement (disorder)
acute chagas' disease with heart involvement
chronic chagas' disease with heart involvement
Transient hypertension of pregnancy, with delivery
antepartum transient hypertension of pregnancy
postpartum transient hypertension of pregnancy
chromosome 5 short arm deletion syndrome
A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
Diabetes mellitus of mother, with delivery
Diabetes mellitus during pregnancy - baby delivered (disorder)
An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus.
pelvic cellulitis unspecified (disorder)
A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.
secondary malignant neoplasm of suprarenal gland
secondary malignant neoplasm of adrenal gland
secondary malignant neoplasm of adrenal gland (disorder)
A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst.
AIDS-related pelvic inflammatory disease
gastrointestinal hemorrhage of fetus or newborn
An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene.
An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess.
A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
congenital hypertrophic pyloric stenosis
congenital or infantile stricture of pylorus
displacement of cardia through esophageal hiatus
Congenital or acquired abnormality of vulva, with delivery
An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs.
disorder of optic chiasm associated with inflammatory disorder
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.
Mucocutaneous-lymphangitic paracoccidioidomycosis
Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder)
Paracoccidioidomycosis, unspecified (disorder)
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.
Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American])
Infection by Blastomyces dermatitidis (disorder)
simultaneous visual perception without fusion
abnormal retinal correspondence (disorder)
Fusion with defective stereopsis (disorder)
A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
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.
hyperemesis gravidarum with metabolic disturbance
hyperemesis gravidarum with metabolic disturbance - delivered (disorder)
hyperemesis gravidarum with metabolic disturbance, antepartum
hyperemesis gravidarum with metabolic disturbance, delivered
A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyomatous neoplasm (morphologic abnormality)
An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Osler hemorrhagic telangiectasia syndrome
An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Pregnancy-related A-G syndrome (disorder)
Rotator cuff shoulder syndrome and allied disorder
A vascular disease that is located_in the capillaries.
An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
pulmonary African histoplasmosis (disorder)
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.
Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases.
An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
pulmonary hypoperfusion syndrome of newborn
respiratory distress syndrome of newborn
chronic gonococcal salpingitis (disorder)
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain.
malignant neoplasm of liver, specified as secondary
secondary malignant neoplasm of liver (disorder)
Retroverted and incarcerated gravid uterus, delivered
Retroverted incarcerated gravid uterus - delivered
Retroverted incarcerated gravid uterus - delivered (disorder)
antepartum retroverted and incarcerated gravid uterus
postpartum retroverted and incarcerated gravid uterus
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.
A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways.
A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions.
A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.
malignant neoplasm of lacrimal duct NOS (disorder)
malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid
malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)
malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid
A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet.
A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "hot potato voice" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.
A Kaposi's sarcoma that is located_in black Africans.
A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes.
A migraine that is characterized by migraine headaches that are not accompanied by an aura.
diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations
A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Mucopolysaccharidosis, MPS-II (disorder)
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mucopolysaccharidosis, MPS-III-B (disorder)
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
N-sulphoglucosamine sulphohydrolase deficiency
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
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.
Mucopolysaccharidosis, MPS-IV-A (disorder)
deficiency of N-acetylgalactosamine-6-sulphatase
chronic enlargement of lacrimal gland (disorder)
chronic lacrimal gland enlargement [Ambiguous]
Clostridium difficile intestinal infectious disease
A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain.
intestinal infectious disease due to clostridium difficile
vaginal enterocele, congenital or acquired
thyrotoxicosis from ectopic thyroid nodule
Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)
Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)
Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm
Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)
Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm
hyperthyroidism due to ectopic thyroid nodule (disorder)
thyrotoxicosis from ectopic thyroid nodule with crisis
thyrotoxicosis from ectopic thyroid nodule with no crisis
An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine.
Ancylostomiasis due to Ancylostoma ceylonicum (disorder)
Ancylostomiasis due to ancylostoma ceylanicum
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.
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
acute infective polyneuritis NOS (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.
Achilles bursitis (disorder) [Ambiguous]
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.
A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
Non-neoplastic nevus of skin (disorder) [Ambiguous]
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.
disease of subdivision of hemolymphoid system
A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum.
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.
Miller-Fisher variant of Guillain-Barre syndrome
A central nervous system disease that results_in the progressive deterioration of function or structure of neurons.
A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
benign lymphoepithelial lesion of salivary gland
benign lymphoepithelial lesion of salivary gland (disorder)
Mucocele of salivary gland unspecified (disorder)
Sickle cell-hemoglobin C disease with crisis (disorder)
Thromboangiitis obliterans NOS (disorder)
Thromboangiitis obliterans [Buerger's disease]
A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
acute schizophrenic episode, unspecified state
Unspecified schizophrenia, chronic state
chronic undifferentiated schizophrenia (disorder)
A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful.
A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage.
Nutritional and metabolic cardiomyopathies (disorder)
Nutritional and metabolic cardiomyopathy NOS
Nutritional and metabolic cardiomyopathy NOS (disorder)
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.
An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.
(Becker's disease) or (obscure African cardiomyopathy)
Obscure African cardiomyopathy (disorder)
Dilated cardiomyopathy secondary to alcohol (disorder)
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A synostosis that results_in craniosynostosis and syndactyly.
A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal.
A hematologic cancer located_in the central nervous system.
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
intrapelvic lymph node leukemic reticuloendotheliosis
Leukemic reticuloendotheliosis involving intrapelvic lymph nodes
Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder)
Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder)
secondary malignant neoplasm of intrapelvic lymph node
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder)
secondary malignant neoplasm of intrapelvic lymph nodes (disorder)
A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
transient disorder of initiating or maintaining sleep
functional disorder of polymorphonuclear neutrophils
Functional disorder of polymorphonuclear neutrophils (disorder)
A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
subclavian steal steno-occlusive disease
Vertebrobasilar artery syndrome (disorder)
intra-abdominal lymph node mast cell malignancy
Mast cell malignancy of intra-abdominal lymph nodes (disorder)
malignant mast cell tumors involving intra-abdominal lymph nodes
A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material.
Mosquito-borne hemorrhagic fever (disorder)
Rodent-borne hemorrhagic fever (disorder)
Unspecified viral hemorrhagic fever (disorder)
A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain.
A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing.
A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV.
A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions.
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
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.
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.
Tick-borne relapsing fever NOS (disorder)
Persistent fetal circulation syndrome (disorder)
Persistent pulmonary hypertension of the newborn (disorder)
congenital alveolar capillary dysplasia with misalignment of pulmonary veins
persistent pulmonary hypertension of the newborn
A sphenoid sinusitis which lasts for less than 4 weeks.
An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions.
Ancylostomiasis due to Ancylostoma Braziliense
Ancylostomiasis due to Ancylostoma braziliense (disorder)
An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia.
Ancylostomiasis due to Ancylostoma Duodenale
Ancylostomiasis due to Ancylostoma duodenale (disorder)
A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
HIV associated cognitive and motor complex
acquired immune deficiency syndrome dementia complex
An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change.
Human immunodefiency virus encephalopathy
Glaucoma associated with ocular trauma (disorder)
Major depressive disorder, recurrent episode, moderate degree
Moderate recurrent major depression (disorder)
recurrent depressive disorder, current episode moderate (disorder)
A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
cellulitis and abscess of finger and toe
cellulitis and abscess of gluteal region
cellulitis and abscess of upper arm and forearm
An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation.
An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules.
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.
A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss.
acquired immune deficiency syndrome (& [ARC])
hemangioma of subcutaneous tissue (disorder)
A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
atrial tachyarrhythmia with short PR interval
syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias
Arterial retinal branch occlusion (disorder)
Idiopathic livedo reticularis with systemic involvement (disorder)
A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
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.
progressive intracranial arterial occlusion
A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia.
Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
Anemia due to protein deficiency (disorder)
Protein-deficiency anemia NOS (disorder)
A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
Human immunodeficiency virus infection wasting syndrome
A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
syndrome of haemolysis, elevated liver enzymes and low platelet
A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.
HMN (Hereditary motor Neuropathy) Proximal type I
hereditary motor neuropathy proximal type I
acute glomerulonephritis with lesion of proliferative glomerulonephritis
acute proliferative glomerulonephritis (disorder)
Crescentic glomerulonephritis (disorder)
Idiopathic crescentic glomerulonephritis (disorder) [Ambiguous]
Wasting disease (context-dependent category)
A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
A cystitis characterized by a sudden onset or severe symptoms.
A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred).
Tuberculous fibrosis of lung, unspecified examination
squamous cell carcinoma of scrotum (disorder)
A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing.
An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever.
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.
malignant tumor of spermatic cord (disorder)
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
neoplasm of unspecified nature of brain (disorder)
primary malignant neoplasm of brain (disorder)
pulmonary congestion and hypostasis (disorder)
pulmonary congestion and hypostasis NOS (disorder)
Iodine-deficiency-related (endemic) goiter, unspecified (disorder)
Iodine-deficiency-related (endemic) goitre, unspecified
Iodine-deficiency-related endemic goiter (disorder)
Iodine-deficiency-related endemic goitre
secondary syphilitic iridocyclitis (disorder)
Background diabetic retinopathy (disorder)
Non proliferative diabetic retinopathy (disorder)
Right bundle branch block with left posterior fascicular block (disorder)
secondary malignant neoplasm of brain and spinal cord
secondary malignant neoplasm of brain and spinal cord (disorder)
secondary malignant neoplasm of brain or spinal cord NOS (disorder)
secondary malignant neoplasm of skin (disorder)
secondary malignant neoplasm of skin NOS (disorder)
secondary malignant neoplasm of female breast (disorder)
Macular cyst, hole, or pseudohole of retina
degeneration of macula due to cyst, hole or pseudohole (disorder)
transsexuality with heterosexual history
Trans-sexualism with heterosexual history
Transsexuality with heterosexual history (disorder)
Submucous leiomyoma of uterus (disorder)
A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear.
retinal dystrophies primarily involving Bruch's membrane
retinal dystrophies primarily involving Bruch membrane
malignant neoplasm of trachea, bronchus and lung
malignant neoplasm of trachea, bronchus and lung (disorder)
malignant neoplasm of trachea, bronchus, and lung
Diffuse cholesteatosis of middle ear and mastoid
A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
A respiratory system cancer that is located_in the lung.
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.
Pneumatosis cystoides intestinalis (disorder)
A respiratory system cancer that is located_in the bronchus.
malignant neoplasm of bronchus and lung, unspecified
malignant neoplasm of bronchus or lung NOS (disorder)
malignant neoplasm of bronchus or lung, unspecified (disorder)
A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12.
A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
Histoplasma duboisii with endocarditis (disorder)
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.
Drug-induced psychotic disorder with hallucinations
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
disorder of porphyrin and hem metabolism
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
EPP (erythropoietic protoporphyria porphyria)
Erythropoietic protoporphyria (disorder)
A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble "red-currant jelly". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
Pneumonia due to Klebsiella pneumoniae (disorder)
A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages.
Pneumonia due to Escherichia coli (disorder)
Pneumonia due to escherichia coli [E. coli]
A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms.
A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema.
A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
Pneumonia due to Mycoplasma pneumoniae (disorder)
A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough.
A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation.
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.
A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
enteroinvasive Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever.
Enteroinvasive Escherichia coli gastrointestinal tract infection
Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder)
intestinal infectious disease due to enteroinvasive E. coli
Crater-like holes of optic disc (disorder)
An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
Juvenile osteochondrosis of Scheurermann
A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy.
A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
pseudomembranous diphtheritic conjunctivitis
A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane.
A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae.
A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic "bullneck" apprearance.
A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
Exocrine pancreatic insufficiency (disorder)
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
persistent hyperinsulinemia hypoglycemia of infancy
lower limb lymph node mast cell malignancy
Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder)
malignant mast cell tumors involving lymph nodes of inguinal region and lower limb
A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors.
chronic follicular conjunctivitis (disorder)
anatomical narrow angle borderline glaucoma
A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue.
Tongue papillary hypertrophy NOS (disorder)
hypertrophy of tongue papillae (disorder)
A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice.
A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain.
Myocarditis due to acquired toxoplasmosis (disorder)
A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses.
A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.
A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness.
Conjunctivitis due to acquired toxoplasmosis (disorder)
Toxoplasmosis chorioretinitis (disorder)
malignant neoplasm of laryngeal cartilage NOS (disorder)
malignant neoplasm of laryngeal cartilages
malignant tumor of laryngeal cartilage (disorder)
A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue.
Gender identity disorder of childhood (disorder)
A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.
Diffuse interstitial keratitis (disorder)
softening of articular cartilage of patella
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.
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration.
nephrotic syndrome with lesion of proliferative glomerulonephritis
A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
A movement disease that is of unknown etiology characterized by progressive rigidity.
(Deep seated dermatophytosis) or (granuloma: [trichophyticum] or [Majocchi's])
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy.
Scrub mite-borne typhus (& various types)
Typhus fever due to Rickettsia tsutsugamushi
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.
.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.
Congenital aortic valve insufficiency (disorder)
Congenital aortic valve insufficiency NOS (disorder)
Congenital aortic valve insufficiency, unspecified (disorder)
Congenital bicuspid aortic valve insufficiency
Congenital insufficiency of aortic valve
Congenital insufficiency of aortic valve (disorder)
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.
acute febrile mucocutaneous lymph node syndrome [MCLS]
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.
acute pyelonephritis with lesion of renal medullary necrosis
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
recessive hereditary megaloblastic anemia 1
An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite.
malignant neoplasm of upper limb NOS (disorder)
malignant tumor of upper limb (disorder)
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.
chronic constitutional pure red cell anaemia
open angle with borderline glaucoma findings
A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
secondary malignant neoplasm of pleura (disorder)
diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder
Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder
An agnosia that is a loss of the ability to recognize text.
A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face.
Non-venereal endemic syphilis (disorder)
Non-venereal endemic syphilis (disorder) [Ambiguous]
Nonvenereal endemic syphilis (& [Bejel] or [Njovera])
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.
Posterior corneal pigmentation (disorder)
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
primary extrapulmonary coccidioidomycosis
primary extrapulmonary coccidioidomycosis (disorder)
Gonococcal synovitis or tenosynovitis (disorder)
A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions.
Hepatitis in secondary syphilis (disorder)
Intrinsic (urethral) sphincter deficiency [ISD]
primary genital syphilis (disorder) [Ambiguous]
secondary syphilis of skin and mucous membrane (disorder)
secondary syphilis of skin or mucous membranes
secondary syphilis of skin or mucus membranes NOS (disorder)
A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum.
secondary syphilitic adenopathy (disorder)
peripheral pterygium, progressive (disorder)
progressive peripheral pterygium (disorder)
malignant tumor of supraglottis (disorder)
Balanitis xerotica obliterans (disorder)
Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) [Ambiguous]
paranoid type schizophrenia chronic state with acute exacerbation
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
disorganized type schizophrenia chronic state
A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
active cochleovestibular Meniere's disease
Cochleovestibular active Mnire's disease (disorder)
active Meniere's disease, cochleovestibular
active cochleovestibular Meniere disease
Vestibular active Mnire's disease (disorder)
Cochlear active Mnire's disease (disorder)
Overgrowth of filiform papillae (disorder)
Moebius congenital oculofacial paralysis
Oromandibular-limb hypogenesis spectrum (disorder)
Venous tributary (branch) occlusion of retina
Venous tributary branch occlusion of retina
Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006
Stiffness of joint, NEC, involving forearm in ICD9CM_2005
Stiffness of joint, NEC, involving forearm in ICD9CM_2006
Stiffness of joint, NEC, involving hand in ICD9CM_2005
Stiffness of joint, NEC, involving hand in ICD9CM_2006
Stiffness of joint, NEC, involving lower leg in ICD9CM_2005
Stiffness of joint, NEC, involving lower leg in ICD9CM_2006
Stiffness of joint, NEC, involving multiple sites in ICD9CM_2005
Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006
Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2005
Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006
Stiffness of joint, NEC, involving shoulder region in ICD9CM_2005
Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006
Stiffness of joint, NEC, involving upper arm in ICD9CM_2005
Stiffness of joint, NEC, involving upper arm in ICD9CM_2006
Stiffness of joint, not elsewhere classified, involving ankle and foot
Stiffness of joint, not elsewhere classified, involving forearm
Stiffness of joint, not elsewhere classified, involving hand
Stiffness of joint, not elsewhere classified, involving lower leg
Stiffness of joint, not elsewhere classified, involving multiple sites
Stiffness of joint, not elsewhere classified, involving pelvic region and thigh
Stiffness of joint, not elsewhere classified, involving shoulder region
Stiffness of joint, not elsewhere classified, involving upper arm
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.
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.
A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly.
A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis.
Candidal: [otitis externa] or [otomycosis]
A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration.
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
intrapelvic lymph node mast cell malignancy
Mast cell malignancy of intrapelvic lymph nodes (disorder)
malignant mast cell tumors involving intrapelvic lymph nodes
squamous cell carcinoma of cornea (disorder)
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
disorder presenting primarily with parkinsonism
secondary parkinsonism (disorder) [Ambiguous]
secondary parkinsonism, unspecified (disorder)
primary open-angle glaucoma with narrow angles
Subserous leiomyoma of uterus (disorder)
glaucoma associated with pupillary block
Glaucoma associated with pupillary block (disorder)
secondary angle-closure glaucoma with pupil block
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.
An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.
Tibial collateral ligament bursitis (disorder)
schizo-affective type schizophrenia chronic state with acute exacerbation
Fetal blood loss from fetal hemorrhage into co-twin
Fetal hemorrhage into co-twin (disorder)
Nutritional edema with dyspigmentation of skin and hair
Nutritional oedema with dyspigmentation of skin and/or hair
female infertility of uterine origin (disorder)
female infertility of uterine origin NOS (disorder)
A pre-eclampsia characterized by the presence of seizures.
malignant vaginal mixed epithelial and mesenchymal tumor
vaginal malignant mixed mesodermal (mullerian) tumor
vaginal mixed epithelial and mesenchymal tumor
malignant tumor of frontal sinus (disorder)
enteropathogenic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea.
Enteropathogenic Escherichia coli gastrointestinal tract infection
Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enteropathogenic E. coli
acute schizophrenic episode subchronic state
Cholestatic jaundice syndrome (disorder)
Obstructive hyperbilirubinemia (disorder)
acute schizophrenic episode chronic state with acute exacerbation
acute schizophrenic episode chronic state
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
extrahepatic obstructive biliary disease (disorder)
A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
Atrial septal defect within oval fossa (disorder)
Defect, Patent or persistent, ostium secundum
Ostium secundum type atrial septal defect
Ostium secundum type atrial septal defect (disorder) [Ambiguous]
(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.
A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea.
intestinal infection due to staphylococcus
A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
malignant tumor of ethmoid sinus (disorder)
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.
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
Pneumococcal septicemia [Streptococcus pneumoniae septicemia]
Septicaemia due to streptococcus pneumoniae
Septicemia due to streptococcus pneumoniae (disorder)
Streptococcal septicemia, unspecified (disorder)
polyneuropathy in collagen vascular disease
Polyneuropathy in collagen vascular disease (disorder)
Polyneuropathy in collagen vascular disease NOS (disorder)
Joint disorder NOS, of ankle and foot (disorder)
Joint disorder NOS, of multiple sites (disorder)
Joint disorder NOS, of shoulder region (disorder)
Joint disorder NOS, of the forearm (disorder)
Joint disorder NOS, of the lower leg (disorder)
Joint disorder NOS, of the pelvic region and thigh
Joint disorder NOS, of the pelvic region and thigh (disorder)
Joint disorder NOS, of the upper arm (disorder)
Unspecified disorder of ankle and foot joint
Unspecified disorder of joint of pelvic region and thigh
Unspecified disorder of joint of shoulder region
Unspecified joint disorder of multiple sites
Stenosis of lacrimal canaliculi (disorder)
acquired nasolacrimal duct stenosis (disorder)
acquired stenosis of nasolacrimal duct (disorder)
Gastrin secretion abnormality NOS (disorder)
abnormality of secretion of gastrin (disorder)
acute suppurative otitis media with tympanic membrane intact
A purulent acute otitis media with no perforation of the tympanic membrane.
acute suppurative otitis media without spontaneous rupture of ear drum
acute suppurative otitis media without spontaneous rupture of ear drum (disorder)
Encephalitis following immunization procedures
Postvaccinal encephalomyelitis (disorder)
hypocalcemia and hypomagnesemia of newborn
Hypocalcemia and/or hypomagnesemia of newborn (disorder)
Posterior scleritis (disorder) [Ambiguous]
Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
simple type schizophrenia subchronic state
simple type schizophrenia subchronic state with acute exacerbation
unilateral vesicoureteral reflux with reflux nephropathy
bilateral vesicoureteral reflux with reflux nephropathy
vesicoureteral reflux with reflux nephropathy
postpartum benign essential hypertension
uterine corpus localized epithelial Mesothelioma
Intrinsic enamel discolouration of fluorosis
Total anodontia of permanent and deciduous teeth
Total, mature senile cataract (disorder)
A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei.
Infection by Schistosoma mattheii (disorder)
A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.
A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis.
Infection by Schistosoma bovis (disorder)
AIDS-related Pneumocystis jirovecii pneumonia
A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV.
Inflammatory disease of the uterus (disorder)
Unspecified inflammatory disease of uterus
Unspecified uterine inflammatory disease (disorder)
Unspecified uterine inflammatory disease NOS (disorder)
chronic passive congestion of liver (disorder)
neonatal urinary tract infectious disease
Neonatal urinary tract infection (disorder)
An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
Histoplasma duboisii with meningitis (disorder)
An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
Histoplasma capsulatum with meningitis (disorder)
An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
Histoplasma duboisii with pericarditis (disorder)
Epiphora due to insufficient drainage (disorder)
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.
Infestation by Phthirus pubis (disorder)
Phthirus/pediculus pubis - pubic lice - crabs (& infestation)
A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss.
A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs.
Infection by Trypanosoma equiperdum (disorder)
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Opisthorchiasis (& [cat liver fluke infection])
ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
Addison disease, chronic adrenal insufficiency
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
primary adrenocortical insufficiency (disorder)
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.
An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
(Chancroid [& bubo]) or (Ducrey's chancre)
A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers.
uterine corpus mixed epithelial and mesenchymal tumor
localized anterior staphyloma (disorder)
malignant neoplasm of central part of female breast (disorder)
malignant neoplasm of central portion of female breast
A uterine cancer that is located_in tissues lining the uterus.
primary malignant neoplasm of endometrium
A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache.
Adenoviral pharyngoconjunctivitis (disorder)
familial combined hyperlipidemia (disorder)
familial combined hyperlipidemia (disorder) [Ambiguous]
familial multiple lipoprotein-type hyperlipidemia (disorder)
hyperbetalipoproteinemia with prebetalipoproteinemia
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Fredrickson type IIa hyperlipoproteinemia
chronic subinvolution of uterus (disorder)
chronic subinvolution of uterus (disorder) [Ambiguous]
Intrauterine synechiae (disorder) [Ambiguous]
disorder of hypoglossal nerve (disorder)
single episode manic disease moderate degree
single episode manic disorder mild degree
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.
Chlamydial infection of lower genitourinary tract (disorder)
Nongonococcal urethritis due to Chlamydia trachomatis (disorder)
Suppressed lactation - delivered (disorder)
Suppressed lactation, with delivery, with or without mention of antepartum condition
A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
microsomal triglyceride transfer protein deficiency disease
Scleritis with corneal involvement (disorder)
Superior oblique muscle innervation disorder
Multiple cranial nerve palsies (disorder)
Multiple cranial nerve palsies NOS (disorder)
A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
psychosexual dysfunction with male orgasmic disease
familial high density lipoprotein deficiency
chronic residual schizophrenia (disorder)
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.
squamous cell papilloma (morphologic abnormality)
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.
Reduced red-green discrimination (finding)
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
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.
acquired color vision deficiency (disorder)
A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.
An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
Vincent's angina - pharyngitis (disorder)
acute necrotising ulcerative gingivitis [Ambiguous]
acute necrotising ulcerative gingivostomatitis
acute necrotising ulcerative gingivostomatitis [Ambiguous]
acute necrotizing ulcerative gingivostomatitis (disorder)
Obstruction of lacrimal canaliculus (disorder)
Obstruction of lacrimal ducts (disorder)
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.
Schistosoma haematobium (& vesical schistosomiasis)
Schistosoma hematobium infection (disorder)
Schistosoma hematobium infectious disease
Schistosomiasis due to schistosoma haematobium
Gonococcal salpingitis, specified as acute
Obstruction of bladder neck or vesicourethral orifice
A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
mitotically active variant uterine corpus leiomyoma
Intramural leiomyoma of uterus (disorder)
peripheral focal retinitis and retinochoroiditis
Focal retinitis and retinochoroiditis, peripheral
peripheral focal retinitis AND retinochoroiditis (disorder)
hypermature cataract (disorder) [Ambiguous]
schizo-affective type schizophrenia subchronic state with acute exacerbation
Unspecified chronic inflammation of orbit (disorder)
chronic inflammation of orbit (disorder)
chronic inflammation of orbit NOS (disorder)
chronic inflammation of orbit, unspecified
schizo-affective type schizophrenia chronic state
female breast lower-outer quadrant cancer
malignant neoplasm of lower-outer quadrant of female breast (disorder)
Esophagitis (& [reflux]) or esophageal reflux
A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules.
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.
A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus.
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.
secondary malignant neoplasm to the small Intestine
Contact blepharoconjunctivitis (disorder)
diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder
Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder
Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder
An aortic aneurysm that is located_in the thoracic aorta.
Alcoholic cirrhosis of liver (disorder) [Ambiguous]
A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly.
Failure of lactation - delivered (disorder)
Failure of lactation, with delivery, with or without mention of antepartum condition
Folate or folic acid deficiency anemia NOS
Megaloblastic anemia due to folate deficiency (disorder)
primary malignant neoplasm of parietal pleura (disorder)
primary malignant neoplasm of visceral pleura (disorder)
An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
Atresia and stenosis of aorta (disorder)
Congenital atresia and stenosis of aorta
(Sexual precocity NOS) or (puberty - precocious)
Precocious sexual development (disorder)
Residual stage angle-closure glaucoma (disorder)
Residual stage of angle-closure glaucoma
An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
A bipolar disorder that is characterized by at least one manic or mixed episode.
syndrome of infant of diabetic mother (disorder)
A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
Infection by dematiacious fungi [Phaehyphomycosis]
Unspecified primary angle-closure glaucoma (disorder)
primary angle-closure glaucoma (disorder)
primary angle-closure glaucoma NOS (disorder)
primary angle-closure glaucoma, unspecified
Rheumatic disease of endocardium, valve unspecified
malignant tumor of paraurethral gland (disorder)
malignant tumor of the Paraurethral gland
acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis
acute poststreptococcal glomerulonephritis
acute post-streptococcal glomerulonephritis (disorder)
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.
Plasmodium falciparum malaria, unspecified
Plasmodium falciparum malaria, unspecified (disorder)
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.
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.
Nystagmus associated with disorder of the vestibular system
Nystagmus associated with disorder of the vestibular system (disorder)
A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
A bone inflammation disease that results_in inflammation located_in epicondyle.
Atherosclerosis of renal artery (disorder)
A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
South African tick-bite fever (disorder)
infertility due to extratesticular cause
Infertility due to extratesticular cause (disorder)
Infertility due to extratesticular cause NOS (finding)
Infertility due to extratesticular causes
A large intestine cancer that is located_in the anus.
Congenital adhesions of tongue (disorder)
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.
Pure hypercholesterolemia NOS (disorder)
Fredrickson type I hyperlipoproteinemia (disorder)
familial hyperchylomicronemia (disorder)
familial lipoprotein lipase deficiency (disorder) [Ambiguous]
familial lipoprotein lipase deficiency with type I phenotype
A urinary system disease which consists of the presence of bacteria in urine.
Broad ligament laceration syndrome (disorder)
Gyrate atrophy of the choroid and/or retina
Ornithinemia with gyrate atrophy (disorder)
A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
secondary malignant neoplasm of anus (disorder)
Bilateral hyperactive labyrinth (disorder)
hyperactive bilateral labyrinthine dysfunction (disorder)
Congestive rheumatic heart failure (disorder)
Selective Immunoglobulin G Subclass deficiency
Selective immunoglobulin G deficiency (disorder)
Congenital hypogammaglobulinemia (finding)
A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
Bruton agammaglobulinemia tyrosine kinase deficiency
residual schizophrenia subchronic state with acute exacerbation
Posterior dislocation of lens (disorder)
childhood type dermatomyositis (disorder)
deficiency of alkaline phosphatase (disorder)
deficiency of alkaline phosphatase (disorder) [Ambiguous]
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.
Dihydropyrimidine dehydrogenase deficiency (disorder)
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.
A frontal sinusitis which lasts for less than 4 weeks.
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting.
A perichondritis of auricle which is persistent and long-lasting.
chronic perichondritis of pinna (disorder)
Epiphora due to excess lacrimation (disorder)
Cystoid macular retinal degeneration (disorder)
A suppurative otitis media which is persistent and long-lasting.
Unspecified chronic suppurative otitis media
chronic purulent otitis media (disorder)
chronic suppurative otitis media NOS (disorder)
A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.
chronic atticoantral suppurative otitis media
chronic atticoantral suppurative otitis media (disorder)
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.
dystrophies primarily involving the retinal pigment epithelium
retinal dystrophy in systemic or cerebroretinal lipidoses
An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain.
leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb
Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb
Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder)
Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder)
A urinary system disease that is located_in the ureter.
An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
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.
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.
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.
pulmonary incompetence, non-rheumatic (disorder)
pulmonary insufficiency following trauma and surgery
Sclerosing cholangitis unspecified (disorder)
disorder of pancreatic internal secretion
Unspecified disorder of pancreatic internal secretion
disorder of pancreatic internal secretion (disorder)
Impingement syndrome of shoulder region (disorder)
Shoulder impingement syndrome (disorder) [Ambiguous]
Joint disorder NOS, of the hand (disorder)
Pachydermoperiostosis of nail (disorder)
Pachydermoperiostosis of nail [Ambiguous]
Pachydermoperiostosis syndrome (disorder)
Arthropathy associated with neurological disorder
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.
Ebstein's anomaly (disorder) [Ambiguous]
Ebstein's anomaly of common atrioventricular valve (disorder)
Ebstein's anomaly of right atrioventricular valve (disorder)
Ebstein's anomaly of tricuspid valve (disorder)
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
Progressive cardiomyopathic lentiginosis
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.
epithelioid hemangioma of skin (disorder)
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever.
Non-toxic uninodular goiter (disorder) [Ambiguous]
A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria.
An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
A malaria that involves infection with more than one species of Plasmodium at the same time.
A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia.
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Postencephalitic parkinsonism (disorder)
A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias.
acute suppurative thyroiditis (disorder)
Opisthorchis viverrini infectious disease
A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Infection by Opisthorchis viverrini (disorder)
Congenital syphilitic meningitis (disorder)
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.
deficiency of plasma-membrane carnitine transporter
renal carnitine transport defect (disorder)
(Scabies (& [Norwegian])) or (sarcoptic itch)
A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
A cerebrum cancer that is located_in the parietal lobe.
A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.
A dysentery that involves protozoan infection.
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.
Critical illness polyneuropathy (disorder)
A hereditary ataxia that has_material_basis_in autosomal dominant inheritance.
Bilateral loss of labyrinthine reactivity (disorder)
Labyrinthine bilateral reactive loss (disorder)
Loss of labyrinthine reactivity, bilateral
An osteochondrosis that results_in death and fracture located_in hip joint.
Juvenile osteochondrosis of hip and/or pelvis (disorder)
juvenile osteochondrosis of hip and pelvis
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.
Infection by Dracunculus medinensis (disorder)
A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease.
A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions.
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
Alpers' disease or gray-matter degeneration
progressive sclerosing poliodystrophy (disorder)
A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection.
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.
Infection by Dipetalonema perstans (disorder)
Infection by Dipetalonema perstans (disorder) [Ambiguous]
secondary malignant neoplasm of intra-abdominal lymph node
metastasis to intra-abdominal lymph node
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder)
secondary malignant neoplasm of intra-abdominal lymph nodes (disorder)
secondary malignant neoplasm of intrathoracic lymph node
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder)
secondary malignant neoplasm of intrathoracic lymph nodes (disorder)
Glucagon secretion abnormality NOS (disorder)
abnormality of secretion of glucagon (disorder)
enterohemorrhagic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge.
Verotoxigenic Escherichia coli gastrointestinal tract infection
Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enterohemorrhagic E. coli
enterotoxigenic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever.
Enterotoxigenic Escherichia coli gastrointestinal tract infection
Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enterotoxigenic E. coli
chronic tubotympanic suppurative otitis media
A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
chronic tubotympanic suppurative otitis media (disorder)
A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
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.
OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].
Pure gonadal dysgenesis 46,XY (disorder)
A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
familial hyperkalemic periodic paralysis (disorder)
familial hyperkalemic periodic paralysis (disorder) [Ambiguous]
hyperkalemic periodic paralysis (disorder)
Hypokalemic periodic paralysis (disorder)
familial hypokalemic periodic paralysis (disorder)
familial periodic paralysis (& [hypokalaemic])
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.
A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain.
A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia.
drug-induced persisting amnestic disease
A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells.
A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium.
Pneumonia due to respiratory syncytial virus (disorder)
A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever.
Parainfluenza virus pneumonia (disorder)
A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure.
A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies.
Herpes gestationis unspecified (disorder)
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.
secondary malignant neoplasm of ureter (disorder)
Wolman's or triglyceride storage type III disease
papilledema associated with retinal disorder
neuronal ceroid lipofuscinosis (disorder)
NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK
NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM
lipoid histiocytosis (classical phosphatide)
peripheral degeneration of cornea (disorder)
A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.
Candidiasis of skin and nails (disorder)
Candidiasis of skin and nails NOS (disorder)
11p partial monosomy syndrome (disorder)
A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
Idiopathic cysts of iris and ciliary body
An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.
Partial arterial retinal occlusion (disorder)
Retinal partial arterial occlusion NOS (disorder)
Argyll Robertson phenomenon or pupil, nonsyphilitic
Atypical Argyll-Robertson pupil (disorder)
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.
Syringomyelia and syringobulbia (disorder)
malignant cardiac peripheral nerve sheath neoplasm
secondary malignant neoplasm of heart (disorder)
macular or paramacular focal retinitis and retinochoroiditis
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
malignant tumor of sphenoid sinus (disorder)
Epidermoid carcinoma of the Sphenoidal sinus
Borderline glaucoma steroid responder (disorder)
Steroid-induced glaucoma - borderline (disorder)
Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear
Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear
Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder)
An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
Non-toxic multinodular goiter (disorder)
A disease that is characterized by abnormally rapid cell division.
A thyroid gland disease which involves an underproduction of thyroid hormone.
A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
hypertelorism, microtia, facial clefting syndrome
An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism-microtia-facial clefting syndrome
Multiple gastrointestinal atresias (disorder)
A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
A inner ear infectious disease which involves inflammation of the labyrinths.
VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES
An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
single major depressive episode in full remission
Major depressive disorder, single episode in full remission
Single major depressive episode, in full remission (disorder)
Rutledge lethal multiple congenital anomaly syndrome
Clouston's hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia syndrome (disorder)
An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Radial aplasia-thrombocytopenia syndrome (disorder)
Thrombocytopenia with absent radii (TAR) syndrome
An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities.
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
Ehlers-Danlos syndrome, type 1 (disorder)
Mitochondrial acetoacetyl-CoA Thiolase deficiency
peroxisomal thiolase deficiency (disorder)
dominant cogenital severe sensorineural deafness
Hereditary angioneurotic edema (disorder)
A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency
METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B
benign lymphangioma (morphologic abnormality)
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Isovaleryl-CoA dehydrogenase deficiency (disorder)
isovaleric acid CoA dehydrogenase deficiency
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argininosuccinate lyase deficiency (disorder)
deficiency of argininosuccinate lyase (disorder)
autosomal dominant type IV Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type 3 (disorder)
autosomal recessive type IV Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, recessive type 4 (disorder)
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.
polysyndactyly with peculiars skull shape
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
McKusick type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis, epicanthus inversus syndrome
A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
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.
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
Hypohidrotic X-linked ectodermal dysplasia (disorder)
A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
familial infantile type osteochondrosis deformans tibiae
An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
secondary syphilitic chorioretinitis (disorder)
Syphilitic uveitis unspecified (disorder)
Uveitis due to secondary syphilis (disorder)
secondary syphilitic uveitis NOS (disorder)
A sensory system disease that is located_in the eye or the adnexa of the eye.
An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
Echinococcus granulosus infection (disorder)
Echinococcus granulosus infection of lung
Echinococcus granulosus infection of lung (disorder)
Echinococcus granulosus infection of thyroid (disorder)
Echinococcus granulosus infection, unspecified
Echinococcus granulosus infectious disease of liver (disorder)
Liver echinococcus granulosus (disorder)
Thyroid echinococcus granulosus (disorder)
Unspecified echinococcus granulosus (disorder)
echinococcus granulosus infectious disease
echinococcus granulosus infectious disease of liver
echinococcus granulosus infectious disease of thyroid
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.
Echinococcosis, unspecified, of liver (disorder)
Liver echinococcus unspecified (disorder)
A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
A disease of anatomical entity that is located_in reproductive system organs.
Non-neoplastic Reproductive system disease
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.
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.
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.
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
residual schizophrenia chronic state with acute exacerbation
chronic gonococcal cervicitis (disorder)
Syphilitic endocarditis of mitral valve (disorder)
An intestinal benign neoplasm that is located_in the cecum.
An intestinal disease located_in the cecum.
A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A large intestine cancer that is located_in the cecum.
Relapsing febrile nodular nonsuppurative panniculitis (disorder)
nodular non-suppurative febrile panniculitis
A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue.
Fibroepithelial neoplasm (morphologic abnormality)
Fibroepithelial neoplasm NOS (morphologic abnormality)
male non-neoplastic reproductive system 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.
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue.
mixed tumor, malignant (morphologic abnormality)
mixed tumor, malignant, NOS (morphologic abnormality)
An endocrine gland cancer located_in the parathyroid glands located in the neck.
malignant tumor of parathyroid gland (disorder)
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.
gestational diabetes complicating pregnancy, childbirth, or the puerperium
Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder)
A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
hypersensitivity reaction type III disease
A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
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.
calculus of gallbladder and bile duct with acute and chronic cholecystitis
calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction
A carcinoma that derives_from the cells that line an organ.
Everted margin (morphologic abnormality)
Normal pressure hydrocephalus (disorder)
Communicating hydrocephalus (disorder) [Ambiguous]
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
lung disease with systemic sclerosis (disorder)
A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
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.
acute chest syndrome in sickle cell disease
thrombocytopenia due to platelet alloimmunization
Thrombocytopenia Due to Immune Destruction
A blood platelet disease characterized by low a platelet count in the blood.
Mesothelial neoplasm (morphologic abnormality)
Mesothelial neoplasm NOS (morphologic abnormality)
Mesothelial tumor morphology (qualifier value)
secondary malignant neoplasm of retroperitoneum and peritoneum
secondary malignant neoplasm of retroperitoneum and peritoneum (disorder)
secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)
secondary malignant neoplasm of the peritoneum (disorder)
A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system.
Major depressive disorder, single episode, mild degree
Mild major depression, single episode (disorder)
Single major depressive episode, mild (disorder)
single episode moderate major depression
Major depressive disorder, single episode, moderate degree
Moderate major depression, single episode (disorder)
Single major depressive episode, moderate (disorder)
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
chronic lymphadenitis any lymph node, except mesenteric
Hypoglycemic coma (disorder) [Ambiguous]
A skin disease characterized_by growth of keratin on the skin or mucous membranes.
A thoracic cancer that originates in the mammary gland.
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Juvenile fibroadenoma (morphologic abnormality)
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
Intraductal papilloma (morphologic abnormality)
Mucoepidermoid neoplasm (morphologic abnormality)
Mucoepidermoid neoplasm NOS (morphologic abnormality)
Cystosarcoma phyllodes NOS (morphologic abnormality)
Phyllodes tumor, benign (morphologic abnormality)
An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
Tuberculosis of meninges and central nervous system (disorder)
tuberculosis of meninges and central nervous system
An extrapulmonary tuberculosis that results in formation of lesions located_in bone.
cystic, mucinous and serous neoplasm (morphologic abnormality)
cystic, mucinous and serous tumor (qualifier value)
benign Adenomyoepithelioma of the breast
A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
breast Adenomyoepithelioma with malignant Change
female breast upper-inner quadrant cancer
malignant neoplasm of upper-inner quadrant of female breast (disorder)
female breast lower-inner quadrant cancer
malignant neoplasm of lower-inner quadrant of female breast (disorder)
malignant neoplasm of axillary tail of female breast (disorder)
A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
A brain cancer that is located_in the supratentorial region.
Infantile Melanotic neuroectodermal neoplasm
Melanotic neuroectodermal tumor (morphologic abnormality)
Melanotic neuroectodermal tumor of infancy (morphologic abnormality)
Pigmented neuroectodermal tumour of infancy
malignant pineal area germ cell neoplasm
malignant Pineal Parenchymal germ cell tumor
malignant intracranial germ cell neoplasm
A pineal gland neoplasm located_in the brain.
An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord.
Enthesopathy of the hip region (disorder)
Hip enthesopathy, unspecified (disorder)
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
spontaneous tension pneumothorax (disorder)
spontaneous tension pneumothorax (disorder) [Ambiguous]
chronic interstitial cystitis (disorder)
chronic interstitial cystitis (disorder) [Ambiguous]
chronic interstitial cystitis NOS (disorder)
Congenital septal defect of heart (disorder)
glaucoma associated with vascular disorder
secondary angle-closure glaucoma with rubeosis
An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
(Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS)
Congenital ichthyosis of skin (disorder)
Congenital ichthyosis, unspecified (disorder)
Congenital non bullous ichthyosiform erythroderma
nonbullous congenital ichthyosiform erythroderma
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
X-linked ichthyosis with steryl-sulphatase deficiency
X-linked placental steryl-sulphatase deficiency
A lipid metabolism disorder that involves defects in steroid metabolism.
Dominant congenital ichthyosiform erythroderma (disorder)
An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
Clear cell acanthoma (morphologic abnormality)
Adding UMLS CUI for Curling Ulcer C0013295.
An organ system cancer that is located in the peritoneum.
Partial occlusion of retinal vein (disorder)
Retinal vascular occlusion NOS (disorder)
Unspecified retinal vascular occlusion (disorder)
A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
Histoplasmosis with pneumonia (disorder)
Pneumonia with histoplasmosis (disorder)
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.
A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Cryptosporidial gastroenteritis (disorder)
A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting.
drug-induced psychotic disease with delusion
Lymphatic vessel tumor (morphologic abnormality)
Lymphatic vessel tumor (qualifier value)
Lymphatic vessel tumor NOS (morphologic abnormality)
squamous cell carcinoma of conjunctiva (disorder)
A carcinoma that derives_from squamous epithelial cells.
squamous cell carcinoma (morphologic abnormality)
squamous cell carcinoma NOS (morphologic abnormality)
A cardiovascular cancer that is located_in blood vessels.
Blood vessel tumor (morphologic abnormality)
Blood vessel tumors (morphologic abnormality)
malignant melanoma of conjunctiva (disorder)
An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
An organ system cancer that located_in the heart and blood vessels.
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder)
A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
Labyrinthine unilateral reactive loss (disorder)
Loss of labyrinthine reactivity, unilateral
Unilateral loss of labyrinthine reactivity (disorder)
Unilateral hyperactive labyrinth (disorder)
hyperactive unilateral labyrinthine dysfunction (disorder)
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.
An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
malignant tumor of pituitary gland (disorder)
A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
Advanced malignant Mesothelioma of Peritoneum
advanced malignant peritoneal mesothelioma
A cell type cancer that has_material_basis_in mesothelial tissue.
A carcinoma that is located_in the inside of the abdomen.
An endocrine gland cancer located_in the pancreas.
malignant neoplasm of the Exocrine pancreas
malignant tumor of exocrine pancreas (disorder)
A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
An islet cell tumor that has_material_basis_in epithelial cells.
Islet cell carcinoma (morphologic abnormality)
carcinoma of endocrine pancreas (disorder)
malignant neoplasm of islets of Langerhans
A pancreatic cancer that is located_in the pancreatic islet cells.
malignant tumor of endocrine pancreas (disorder)
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
Ossifying fibroma (morphologic abnormality)
A carcinoma that derives_from neuroendocrine cells.
secondary malignant neoplasm to the pancreas
secondary malignant neoplasm of pancreas (disorder)
(Mononeuritis of unspecified site NOS) or (hereditary or idiopathic peripheral neuropathy)
A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea.
An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
(Grand mal status) or (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.
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.
An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida.
A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.
A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone.
central giant cell (reparative) granuloma
central giant cell reparative granuloma of jaw (disorder)
chronic rheumatic pericarditis (disorder)
chronic rheumatic pericarditis NOS (disorder)
abortion complicated by metabolic disorder
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
A hepatitis that involves viral infection causing inflammation of the liver.
Unspecified viral hepatitis with hepatic coma
Viral hepatitis with hepatic coma (disorder)
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.
A cranial nerve disease that is located_in the optic nerve.
Eczematous dermatitis of eyelid (disorder)
Non-infected eyelid dermatoses NOS (disorder)
Noninfectious dermatosis of eyelid (disorder)
Allergic contact dermatitis of eyelid (disorder)
Contact and allergic dermatitis of eyelid
malignant fibrous histiocytoma of skin (disorder)
Fibroxanthosarcoma (morphologic abnormality)
fibrous histiocytoma, malignant (morphologic abnormality)
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
secondary malignant neoplasm of vagina (disorder)
Alternating exotropia with A pattern (disorder)
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)
Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]
Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])
X-linked hyperuricemia (disorder) [Ambiguous]
hypoxanthine guanine phosphoribosyltransferase deficiency
A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis.
Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)
Specialized gonadal neoplasm (morphologic abnormality)
Specialized gonadal neoplasm NOS (morphologic abnormality)
Specialized gonadal tumor (qualifier value)
malignant testicular sex cord-stromal tumor
An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
disorder of sexual differentiation (disorder)
A gonadal disease that is characterized by diminished functional activity of the gonads.
A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.
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.
glucosylceramide beta-glucosidase deficiency
An organ system cancer that is manifested in the reproductive organs.
An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
proximal chromosome 16p13.3 deletion syndrome
A bone development disease that results_in defective ossification of located_in bone.
An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Alternating intermittent exotropia (disorder)
Intermittent alternating exotropia (disorder)
Intermittent heterotropia NOS (disorder)
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.
A cholangitis that is characterized_by an inflammation that is located_in the gallbladder.
acute and chronic cholecystitis (disorder)
acute cholecystitis unspecified (disorder)
benign hypertensive heart disease (disorder)
benign hypertensive heart disease NOS (disorder)
acinar cell neoplasm (morphologic abnormality)
acinar cell neoplasm NOS (morphologic abnormality)
acinar cell tumor (morphologic abnormality)
A fallopian tube cancer that is located_in the fallopian tube.
A female reproductive organ cancer that is located_in fallopian tube.
malignant tumor of fallopian tube (disorder)
A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
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.
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.
fallopian tube malignant mixed Mullerian tumor
fallopian tube malignant mixed mesodermal (mullerian) tumor
A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
juxtapapillary focal choroiditis and chorioretinitis
Focal choroiditis and chorioretinitis, juxtapapillary
Juxtapapillary focal choroiditis AND chorioretinitis (disorder)
Mesonephric tumor (morphologic abnormality)
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses.
A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses.
secondary malignant neoplasm of large intestine (disorder)
A colorectal cancer that is located_in the rectum.
A sarcoma and malignant tumor of rectum that is located_in the rectum.
A rectum cancer that derives_from epithelial cells of glandular origin.
A otosalpingitis which is persistent and long-lasting.
chronic eustachian salpingitis (disorder)
chronic eustachian tube salpingitis (disorder)
Giant cell tumor (morphologic abnormality)
Giant cell tumor NOS (morphologic abnormality)
Giant cell tumors (morphologic abnormality)
A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube.
Eustachian tube salpingitis NOS (disorder)
Unspecified eustachian tube salpingitis (disorder)
A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing.
Isolated tracheal or bronchial tuberculosis (disorder)
Isolated tracheal or bronchial tuberculosis NOS (disorder)
Isolated tracheal or bronchial tuberculosis, unspecified examination
degeneration of macula and posterior pole
degeneration of macula and posterior pole (disorder)
degeneration of macula and posterior pole of retina
degeneration of macula or posterior pole NOS (disorder)
A musculoskeletal system cancer that is located_in connective tissue.
neoplasm of connective tissues (disorder)
impaired mobility of ear ossicles except malleus
Impaired mobility of ear ossicles, except malleus (disorder)
Gestational choriocarcinoma (morphologic abnormality)
Molar pregnancy with choriocarcinoma (disorder)
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
A specific developmental disorder that involves specific developmental disorders of speech and language.
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Drug-induced chronic hepatitis (disorder)
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma.
An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
autoimmune hepatitis with centrilobular necrosis
A bone remodeling disease that results in an abnormal growth of located_in bone.
hypertrophy of bone (morphologic abnormality)
A maxillary sinusitis which lasts for less than 4 weeks.
A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
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.
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.
Osteochondromatosis syndrome (disorder) [Ambiguous]
Perinatal intestinal perforation (disorder)
Eccrine mixed tumor (morphologic abnormality)
Blue nevus NOS (morphologic abnormality)
A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
A vulva carcinoma that derives_from epithelial cells of glandular origin.
Extramammary Paget's disease (morphologic abnormality)
Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality)
An exostosis that results_in an abnormal growth located_in calcaneus.
A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
Congenital myotonia, autosomal dominant form (disorder)
An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another.
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.
Infection by Isospora belli and Isospora hominis
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.
A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
Immunoglobulin heavy chain deficiency (disorder)
A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues.
intracranial central nervous system tumors
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
Atypical teratoid/rhabdoid tumor (morphologic abnormality)
childhood malignant central nervous system neoplasm
malignant neoplasm of temporal lobe (disorder)
malignant neoplasm of temporal lobe NOS (disorder)
neoplasm of paraurethral glands (disorder)
An urogenital tuberculosis that results_in inflammtion located_in ovary.
An extrapulmonary tuberculosis that is located_in urogenital system.
malignant ovarian surface epithelial-stromal neoplasm
An ovarian cancer that is derived_from ovarian surface epithelium.
Ovarian Surface epithelial-Stromal tumor
A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
A kidney cancer that affects the kidneys and typically located_in children.
malignant germ cell tumor of ovary (disorder)
An ovarian cancer that originates in the germ (egg) cells of the ovary.
secondary malignant neoplasm of lung (disorder)
Enamel dental caries unspecified (disorder)
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
carbuncle and furuncle of any part of face except eye
carbuncle and furuncle of gluteal region
carbuncle and furuncle of leg except foot
carbuncle and furuncle of upper arm and forearm
complications mainly related to pregnancy
Asymptomatic bacteriuria in pregnancy, with delivery
Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium
Syphilis complicating pregnancy, childbirth, or the puerperium
gonorrhea complicating pregnancy, childbirth, or the puerperium
malaria complicating pregnancy, childbirth, or the puerperium
syphilis of mother, complicating pregnancy, with delivery
diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations
Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations
malignant tumor of ascending colon (disorder)
Post-surgical hypoinsulinemia (disorder)
(Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly)
A dental enamel hypoplasia characterized by abnormal enamel formation.
A colorectal cancer that is located_in the colon.
A perichondritis of auricle with a sudden onset and a short course.
acute perichondritis of pinna (disorder)
Factor XIII deficiency disease (disorder)
Hereditary factor XIII deficiency disease (disorder)
A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
Unspecified perichondritis of pinna (disorder)
Platelet dense granule deficiency (disorder)
A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.
A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
malignant neoplasm of lymphatic and hemopoietic tissue
A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Hereditary factor XI deficiency disease (disorder)
plasma thromboplastin antecedent deficiency
Factor XII deficiency disease (disorder)
partial epilepsy with impairment of consciousness
An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
acute and subacute liver necrosis (disorder)
acute and subacute liver necrosis NOS (disorder)
Transient cerebral ischemia (disorder) [Ambiguous]
Major depressive disorder, recurrent episode, mild degree
Mild recurrent major depression (disorder)
recurrent major depressive episodes, mild (disorder)
An bone structure disease that involves degeneration between vertebra located_in vertebral column.
Lumbar spondylosis with myelopathy (disorder)
Spondylogenic compression of lumbar spinal cord
Spondylogenic compression of thoracic spinal cord
Thoracic or lumbar spondylosis with myelopathy
lumbosacral spondylosis without myelopathy
A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.
hypertrophic elongation of cervix (disorder)
hypertrophic elongation of cervix (disorder) [Ambiguous]
A bone development disease that results_in defective development of cartilage or bone.
Congenital anomaly of cartilage (disorder)
Osteochondrodysplasia syndrome (disorder)
Unspecified anomaly of cartilage (disorder)
primary Spirochaetales infectious disease
Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing.
A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
Candidal: [vulvovaginitis NOS] or [cervix]
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.
An endocrine system disease that is located_in the gonads.
A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
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.
Leptospirosis icterohemorrhagica (disorder)
A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
A bone structure disease that involves a defect located_in lumbar vertebral column.
A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Stereotyped repetitive movements NOS (finding)
A neurodegenerative disease that is located_in the motor neurones.
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.
primary Actinomycetales infectious disease
An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain.
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.
infectious colitis, enteritis and gastroenteritis
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.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
Tuberculosis of eye, unspecified examination
A carcinoma that is able to grow at sites distant from the primary site of origin.
carcinoma, metastatic (morphologic abnormality)
carcinoma, metastatic, NOS (morphologic abnormality)
A jaw cancer and mandibular disease that affects your lower jawbone.
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.
A colon carcinoma that derives_from epithelial cells of glandular origin.
A synostosis that results_in premature fusion located_in skull.
Polyclonal hypergammaglobulinemia (disorder)
Polyclonal hypergammaglobulinemia NOS (disorder)
An inherited metabolic disorder that involves plasma protein metabolism malfunction.
Generalized and unspecified atherosclerosis
Arteriosclerotic cardiovascular disease, NOS
Cardiovascular arteriosclerosis unspecified (disorder)
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Arteriosclerosis (morphologic abnormality)
Arteriosclerotic vascular disease (disorder)
An intestinal benign neoplasm that is located_in the colon.
disorder of iron metabolism NOS (disorder)
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
A myeloma and anemia that is located_in some people with diseases that affect the bone marrow.
A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
Macrocytic anemia of unspecified cause (disorder)
A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
Postphlebetic syndrome with inflammation
Postphlebetic syndrome with ulcer and inflammation
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.
A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations
adhesions and disruptions of iris and ciliary body
adhesions and disruptions of iris and ciliary body (disorder)
adhesions and disruptions of iris and ciliary body NOS (disorder)
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.
This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS]
chronic progressive multiple sclerosis (disorder)
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.
Generalized multiple sclerosis (disorder)
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.
Vibrio cholerae O1 biovar El Tor cholera
A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.
Cholera due to Vibrio cholerae 01, biovar el tor
Cholera due to Vibrio cholerae El Tor (disorder)
Vibrio cholerae 01 biovar cholerae cholera
cholera due to Vibrio cholerae 01 biovar cholerae
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.
Thiamine deficiency, unspecified (disorder)
Fibromuscular dysplasia (morphologic abnormality)
Fibromuscular hyperplasia of arteries NOS (disorder)
Fibromuscular hyperplasia of artery (disorder)
Fibromuscular hyperplasia of artery [Ambiguous]
A female reproductive organ cancer that is located_in the ovary.
malignant neoplasm of clitoris (disorder)
Lymphangiectasis (morphologic abnormality)
A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed.
granular cell tumor (morphologic abnormality)
granular cell tumor NOS (morphologic abnormality)
epithelioid and spindle cell nevus (disorder)
Magnocellular nevus (morphologic abnormality)
Pigmented nevus, no ICD-O subtype (morphologic abnormality)
melanocytic nevi, unspecified (disorder)
Intradermal nevus (morphologic abnormality)
A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
neoplasm of skin with adnexal differentiation (disorder)
Junctional melanocytic nevus of skin (disorder)
Junctional nevus (morphologic abnormality)
Compound nevus (morphologic abnormality)
Epidermoid carcinoma of the Frontal sinus
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
central retinal vein occlusion (disorder)
A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.
Angular blepharoconjunctivitis (disorder)
A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
Unspecified blepharoconjunctivitis (disorder)
Giant papillary conjunctivitis (disorder)
A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
Erysipelothrix rhusiopathiae infectious disease
Infection due to Erysipelothrix rhusiopathiae
A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
Vernal conjunctivitis (disorder) [Ambiguous]
Unspecified chronic conjunctivitis (disorder)
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
HSMN - Hereditary sensory and motor neuropathy
Hereditary motor and sensory neuropathy [Ambiguous]
Vertigo of central origin NOS (disorder)
disorder of phosphorus metabolism (disorder)
disorder of phosphorus metabolism NOS (disorder)
A peripheral neuropathy that involves damage to nerves of the peripheral nervous system.
Hereditary peripheral neuropathy (disorder)
Hereditary peripheral neuropathy NOS (disorder)
gastric antral vascular ectasia (disorder)
A vascular disease that is characterized as a small vascular malformation of the gut.
angiodysplasia of stomach and duodenum with hemorrhage
A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients.
(Aortic arch arteritis) or (Takayasu's disease[& pulseless])
A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
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.
Basal cell carcinoma NOS (morphologic abnormality)
Basal cell neoplasm (morphologic abnormality)
Basal cell neoplasm NOS (morphologic abnormality)
Basal cell tumor (morphologic abnormality)
malignant basal cell tumor (morphologic abnormality)
hemangioma of intracranial structure (disorder)
hemangioma of intracranial structures (disorder)
abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium
abnormal glucose tolerance of mother with delivery
antepartum abnormal glucose tolerance of mother
postpartum abnormal glucose tolerance of mother
A prostate carcinoma that derives_from epithelial cells of glandular origin.
A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work.
Myeloid metaplasia (morphologic abnormality)
An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
hematopoietic neoplasm (morphologic abnormality)
malignant hematopoietic neoplasm (morphologic abnormality)
chronic inflammatory demyelinating polyneuritis
hemangioma of intra-abdominal structure (disorder)
hemangioma of intra-abdominal structures
hemangioma of intra-abdominal structures (disorder)
An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.
A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
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.
primary Enterobacteriaceae infectious disease
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
Langerhan's cell histiocytosis (disorder)
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 of intra-abdominal lymph nodes
Letterer-Siwe disease of intra-abdominal lymph nodes (disorder)
Letterer-Siwe disease of intrapelvic lymph nodes
Letterer-Siwe disease of intrapelvic lymph nodes (disorder)
Letterer-Siwe disease of intrathoracic lymph nodes
Letterer-Siwe disease of intrathoracic lymph nodes (disorder)
Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder)
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder)
Letterer-Siwe disease of lymph nodes of head, face and neck (disorder)
Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder)
Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder)
Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder)
Letterer-Siwe disease of lymph nodes of multiple sites
Letterer-Siwe disease of lymph nodes of multiple sites (disorder)
Letterer-Siwe disease of spleen (disorder)
MERGED COMMENT: TARGET COMMENT: OMIM mapping confirmed by DO. [SN]. -------------------- SOURCE COMMENT: OMIM mapping confirmed by DO. [SN].
diabetes mellitus insulin dependent type uncontrolled with renal manifestations
Diabetes mellitus juvenile type, uncontrolled, with renal manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations
A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.
Chondrodysplasia punctata congenita (disorder)
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
nephrotic syndrome with lesion of endothelial glomerulonephritis
nephrotic syndrome with lesion of segmental hyalinosis
nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis
nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis
nephrotic syndrome with lesion of persistent glomerulonephritis
nephrotic syndrome with lesion of membranous glomerulonephritis
Congenital nephrotic syndrome (disorder)
Congenital nephrotic syndrome NOS (disorder)
nephrotic syndrome with lesion of lobular glomerulonephritis
nephrotic syndrome with lesion of focal glomerulosclerosis
A respiratory system cancer that is located_in the larynx.
An endocrine system disease that is located_in the pancreas.
malignant tumor of hepatic flexure (disorder)
A larynx cancer that has_material_basis_in epithelial cells.
Juxtacortical chondroma (morphologic abnormality)
A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
A carcinosarcoma that has_material_basis_in gland and muscle components.
malignant tumor of transverse colon (disorder)
serous surface papilloma (morphologic abnormality)
serous surface papilloma NOS (morphologic abnormality)
A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue.
papilloma (except papilloma of bladder M-81201) (morphologic abnormality)
papillomatosis NOS (morphologic abnormality)
Mesonephroma, benign (morphologic abnormality)
A kidney cancer which is manifested in the kidney.
ductal, lobular and medullary neoplasm (morphologic abnormality)
ductal, lobular and medullary tumor (qualifier value)
A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
neuronal and mixed neuronal-glial tumor (morphologic abnormality)
Choroid plexus papilloma NOS (morphologic abnormality)
Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality)
Papillary serous cystadenoma (morphologic abnormality)
Papillary serous cystadenoma NOS (morphologic abnormality)
A urinary system cancer that is located_in the kidney.
malignant neoplasm of kidney except pelvis
Papillary cystadenoma (morphologic abnormality)
Papillary cystadenoma NOS (morphologic abnormality)
serous cystadenoma NOS (morphologic abnormality)
A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
serous surface papillary carcinoma (morphologic abnormality)
mucinous adenoma (morphologic abnormality)
mucinous cystadenoma (morphologic abnormality)
Brenner tumor NOS (morphologic abnormality)
Brenner tumors (morphologic abnormality)
Pericanalicular fibroadenoma (morphologic abnormality)
A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
hemangiopericytoma, malignant (morphologic abnormality)
Struma ovarii NOS (morphologic abnormality)
ovarian germ cell monodermal and highly specialized teratoma
Ovarian Monodermal and Highly Specialized teratoma
Lymphangiomyoma (morphologic abnormality)
neoplasm with Perivascular epithelioid cell differentiation
A cell type benign neoplasm that has_material_basis in mesothelium.
Sebaceous adenoma (morphologic abnormality)
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.
Intraductal papillomatosis (morphologic abnormality)
Intraductal papillomatosis NOS (morphologic abnormality)
fibrous mesothelioma, benign (morphologic abnormality)
teratoma, benign (morphologic abnormality)
malignant soft tissue neoplasm of the spleen
A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
Sweat gland tumor (morphologic abnormality)
Sweat gland tumor NOS (morphologic abnormality)
Mesenchymoma, benign (morphologic abnormality)
Pacinian tumor (morphologic abnormality)
transitional cell papilloma NOS (morphologic abnormality)
transitional cell papilloma, benign (morphologic abnormality)
A carcinoma that derives_from transitional epithelial cells.
Papillary mucinous cystadenoma (morphologic abnormality)
Papillary mucinous cystadenoma NOS (morphologic abnormality)
A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants.
mixed epithelial and stromal tumour of kidney
Dysembryoplastic Neuroepithelial neoplasm
Dysembryoplastic neuroepithelial tumor (morphologic abnormality)
An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
Intracystic papillary adenoma (morphologic abnormality)
A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
adenofibroma, no ICD-O subtype (morphologic abnormality)
Ossifying fibromyxoid tumor (morphologic abnormality)
A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
renal cell adenoma (morphologic abnormality)
A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
Synovioma, benign (morphologic abnormality)
localized Giant cell tumor of Tenosynovium
Diffuse Giant cell tumor of Tenosynovium
A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
malignant giant cell tumor of the tendon sheath
Giant cell tumour of tendon sheath, malignant
malignant Giant cell neoplasm of the Tendon Sheath
malignant tumor, giant cell type (morphologic abnormality)
An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Congenital Telangiectatic Erythema syndrome
A vascular disease that is located_in the liver.
A dermatitis that selectively affects the hands and feet.
A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
Capillary hemangioma (morphologic abnormality)
cellular hemangioma of Infancy (Strawberry nevus)
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.
Xref MGI. OMIM mapping by NeuroDevNet. [LS].
Hereditary benign intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis (disorder)
An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
Glycogen storage disease, type V (disorder)
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.
Glycogen storage disease, type III (disorder)
A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.
Glycogen storage disease, type I (disorder)
Branching-transferase deficiency glycogenosis (disorder)
Glycogen storage disease, type IV (disorder)
deficiency of 1,4-alpha-glucan branching enzyme
Glycogen storage disease type VIII (disorder)
hepatic glycogen phosphorylase kinase deficiency (disorder)
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.
Glycogen storage disease, type II (disorder)
Lysosomal alpha-1,4-glucosidase deficiency (disorder)
nervous system lysosomal storage disease
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.
hepatic glycogen phosphorylase deficiency (disorder)
hepatophosphorylase deficiency glycogenosis
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.
Infection due to Mycobacterium intracellulare
Infection due to Mycobacterium intracellulare (disorder)
Infection due to Mycobacterium paratuberculosis (disorder)
Mycobacterium infection, unspecified (disorder)
A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Epidermoid carcinoma of the ethmoidal sinus
adenoid cystic carcinoma of ethmoid sinus
adenoid cystic carcinoma of the ethmoid sinus
An ethmoid sinus cancer that derives_from epithelial cells of glandular origin.
A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity.
Irritant contact dermatitis due to contact with urine and/or faeces
atopic dermatitis and related conditions
An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
adamantinoma of long bones (morphologic abnormality)
A bone cancer that is located_in almost exclusively in the long bones.
malignant neoplasm of short bones of upper limb
malignant neoplasm of short bone of upper limb
tumors of body of uterus complicating pregnancy, childbirth, or the puerperium
neoplasm of rectosigmoid junction (disorder)
malignant neoplasm of rectosigmoid junction
malignant tumor of rectosigmoid junction (disorder)
A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
(Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome)
Atresia of foramina of Magendie and Luschka
Cerebellar deficiency syndrome (disorder)
An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia.
A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
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.
A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria.
A pneumonia located_in the lung parenchyma of unknown cause.
A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Bronchiolitis fibrosa obliterans (disorder)
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.
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.
Idiopathic pulmonary fibrosis, acute fatal form
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.
Nonspecific interstitial pneumonia (disorder)
primary Bartonellaceae infectious disease
A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection.
malignant tumor of acoustic vestibular nerve (disorder)
malignant tumor of the Vestibulocochlear nerve
malignant tumour of acoustic vestibular nerve
malignant neoplasm of cranial nerves NOS (disorder)
malignant tumor of cranial nerve (disorder)
primary malignant neoplasm of oculomotor nerve (disorder)
acute cholecystitis without calculus (disorder)
cholecystitis without calculus (disorder)
leukemic reticuloendotheliosis of intra-abdominal lymph nodes
Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes
Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder)
Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder)
An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people.
Polycythaemia due to Excess Erythropoetin Production
Polycythemia due to excess erythopoetin production
secondary polycythemia with excess erythropoietin (disorder)
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
Jervell and Lange-Nielson syndrome (disorder)
Jervell and Lange-Nielson syndrome (finding)
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).
A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
Hypoplasia of thyroid (disorder) [Ambiguous]
congenital nonspherocytic hemolytic anemia
hereditary nonspherocytic hemolytic anemia
glucosephosphate dehydrogenase deficiency
A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Glucose-6-phosphate dehydrogenase deficiency
An endometrial carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of endometrium (disorder)
endometrial endometrioid adenocarcinoma with squamous differentiation
endometrioid adenoma or carcinoma NOS (morphologic abnormality)
endometrioid adenomas and carcinomas (morphologic abnormality)
A endometrial cancer that is located_in the tissue lining the uterus.
endometrioid carcinoma of female Reproductive system
A laryngeal carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of larynx (disorder)
A sarcoma and malignant neoplasm of larynx that is located_in the larynx.
nodular degeneration of cornea (disorder)
A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema.
Cysts of iris, ciliary body and anterior chamber
Cysts of iris, ciliary body and anterior chamber (disorder)
Cysts of iris, ciliary body and anterior chamber NOS (disorder)
Cysts of iris, ciliary body, and anterior chamber
benign Phyllodes neoplasm of the prostate
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
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.
commensal streptococcal infectious disease
Streptococcal infection, unspecified (disorder)
Streptococcal infectious disease (disorder)
commensal Escherichia coli infectious disease
Infection due to Escherichia coli (disorder)
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips.
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.
Facio-auriculo-vertebral spectrum (disorder)
First AND second branchial arch syndrome
(Mandibulofacial dysostosis) or (Franceschetti syndrome)
acute necrotizing pancreatitis (disorder)
acute pancreatitis (disorder) [Ambiguous]
acute pancreatitis unspecified (disorder)
A disease of anatomical entity that is located_in the immune system.
hypersensitivity reaction type IV disease
A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood.
membranoproliferative glomerulonephritis
Membranoproliferative glomerulonephritis NOS
A nephritis that causes inflammation of the glomeruli located_in kidney.
A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes.
A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.
An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene.
A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.
A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8.
A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva.
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.
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.
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses.
disease due to unassigned Poxviridae (disorder)
A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness.
A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses.
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.
A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks.
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.
carcinoma Ex Pleomorphic adenoma of the lacrimal gland
carcinoma ex pleomorphic adenoma of lacrimal gland (disorder)
malignant mixed neoplasm of lacrimal gland
trichothiodystrophy with congenital ichthyosis
A monogenic disease that results from a reduced functionality of DNA repair.
An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
carcinoma ex pleomorphic adenoma (morphologic abnormality)
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn errors of carbohydrate metabolism
A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
chronic rejection of renal transplant (disorder)
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
Berger's IgA or IgG nephropathy (disorder)
A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin.
A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
Atypical small acinar proliferation of the prostate gland
Prostatic Atypical small acinar Proliferation
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
adenocarcinoma NOS (morphologic abnormality)
adenocarcinoma, no subtype (morphologic abnormality)
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells.
ovarian mixed germ cell-sex cord neoplasm
mixed germ cell-sex cord-stromal tumor (morphologic abnormality)
A male reproductive system cancer that is located_in the testicles.
Granulosa cell tumor, adult type (morphologic abnormality)
A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents.
endometrioid tumor (morphologic abnormality)
female reproductive endometrioid neoplasm
A breast carcinoma that derives_from the lining of milk ducts.
An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
Li-Fraumeni Familiar cancer Susceptibility syndrome
sarcoma, breast, leukaemia and adrenal gland syndrome
Phyllodes tumor, malignant (morphologic abnormality)
malignant cystosarcoma phyllodes (morphologic abnormality)
malignant phyllodes tumor (morphologic abnormality)
malignant phyllodes tumor of breast (disorder)
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
acinar cell carcinoma (morphologic abnormality)
adenocarcinoma, metastatic (morphologic abnormality)
adenocarcinoma, metastatic, NOS (morphologic abnormality)
intramucosal adenocarcinoma colon adenoma
Colonic adenoma with Intramucosal adenocarcinoma
adenoma of colon with intramucosal 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.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
Mucin-producing adenocarcinoma (morphologic abnormality)
Pseudomyxoma peritonei with unknown primary site
submucosal invasive colon adenocarcinoma
A cecum carcinoma that derives_from epithelial cells of glandular origin.
A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia.
A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Allergic granulomatosis angiitis (disorder)
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
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.
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.
An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes.
A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
astrocytoma, no ICD-O subtype (morphologic abnormality)
A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
malignant glioma (morphologic abnormality)
Glioblastoma multiforme of brain (disorder)
A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells.
An astrocytoma that is characterized by cells with regular, round to oval nuclei.
Juvenile astrocytoma (morphologic abnormality)
Epileptic seizures - myoclonic (disorder)
cystic lymphangioma (morphologic abnormality)
opportunistic Moraxellaceae infectious disease
An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system.
A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells.
stenosis and insufficiency of lacrimal passage
Stenosis and insufficiency of lacrimal passages (disorder)
Stenosis and insufficiency of lacrimal passages NOS (disorder)
Myoclonic epilepsy - ragged red fibers (disorder)
Myoclonus epilepsy AND ragged red fibers (disorder)
Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome)
primary Mycoplasmatales infectious disease
Arterial thoracic outlet syndrome due to cervical rib
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.
A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms.
A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.
A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
idiopathic CD4-positive T-lymphocytopenia
A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
Papillary cystadenocarcinoma (morphologic abnormality)
Papillary cystadenocarcinoma, NOS (morphologic abnormality)
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
cystadenocarcinoma (morphologic abnormality)
cystadenocarcinoma NOS (morphologic abnormality)
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.
Infiltrating and papillary adenocarcinoma
Papillary adenocarcinoma (morphologic abnormality)
Papillary adenocarcinoma NOS (morphologic abnormality)
A carcinoma that is derived_from epithelial cells with finger like projections.
Papillary carcinoma (morphologic abnormality)
Papillary carcinoma NOS (morphologic abnormality)
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
serous cystadenocarcinoma, NOS (morphologic abnormality)
transitional cell neoplasm of the urinary tract
A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
A biliary tract cancer that is located_in the gallbladder.
localized malignant gallbladder neoplasm
Multiple endocrine adenomas (morphologic abnormality)
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.
An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
Multiple symmetrical lipomatosis (disorder)
fibrous histiocytoma of tendon sheath (disorder)
Contact dermatitis and other eczema due to animal (cat) (dog) dander
Contact dermatitis and other eczema due to detergents
Contact dermatitis and other eczema due to drugs and medicines in contact with skin
Contact dermatitis and other eczema due to food in contact with skin
Contact dermatitis and other eczema due to oils and greases
Contact dermatitis and other eczema due to other chemical products
Contact dermatitis and other eczema due to other specified agents
Contact dermatitis and other eczema due to plants
Contact dermatitis and other eczema due to plants [except food]
Contact dermatitis and other eczema due to solvents
Contact dermatitis and other eczema, unspecified cause
Contact dermatitis and other eczemas (disorder)
Contact dermatitis due to cosmetics (disorder)
Contact dermatitis due to metal (disorder)
Contact dermatitis due to metals (disorder)
A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.
familial hypercholesterolaemia with hyperlipaemia
familial type 3 hyperlipoproteinemia (disorder)
An inherited metabolic disorder that involves the creation and degradation of lipids.
dermal unilateral segmental cavernous angioma
Unilateral Segmental Cavernous hemangioma of the skin
Unilateral segmental cavernous hemangioma (disorder)
Synovial neoplasm (morphologic abnormality)
Synovial neoplasm NOS (morphologic abnormality)
A skin carcinoma that has_material_basis_in squamous cells.
Incontinentia pigmenti achromians syndrome (disorder)
Incontinentia pigmenti syndrome (disorder) [Ambiguous]
Congenital melanocytic nevus (morphologic abnormality)
Congenital pigmented melanocytic naevus of skin
A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment.
spindle cell melanoma NOS (morphologic abnormality)
A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells.
malignant tumor, fusiform cell type (morphologic abnormality)
Hairy nevus NOS (morphologic abnormality)
A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
Papillary adenoma NOS (morphologic abnormality)
Oligodendroglioma of spinal cord (disorder)
Well differentiated Spinal Cord Oligodendroglioma
A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells.
A brain glioma that has_material_basis_in oligodendrocytes.
A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.
A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves.
A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
neoplasm of hypoglossal nerve (disorder)
Melanotic Schwannoma (morphologic abnormality)
Plexiform Schwannoma (morphologic abnormality)
Congenital junctional epidermolysis bullosa (disorder)
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.
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
hereditary central nervous system demyelinating disease
A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis.
Infectious bovine rhinotracheitis (disorder)
jejunal delta cell somatostatin producing tumor
small intestinal delta cell somatostatin producing tumor
Complex regional pain syndrome, type II (disorder)
Complex regional pain syndromes (disorder)
Human T-lymphotropic virus 1 infectious disease
A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.
A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
spindle cell nevus (morphologic abnormality)
A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
pneumonitis due to inhalation of food or vomitus
An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent.
Pneumonitis due to inhalation of oils (disorder) [Ambiguous]
pneumonitis due to inhalation of oils and essences
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.
A skeletal muscle cancer that arise from skeletal muscle progenitors.
Pleomorphic rhabdomyosarcoma, adult type
A prostate rhabdomyosarcoma that is most common in children.
Embryonal Rhabdomyosarcoma of the prostate
A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
embryonal extrahepatic bile duct rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
Botryoid sarcoma (morphologic abnormality)
Botryoid-type Embryonal Rhabdomyosarcoma
A vascular disease that is characterized by a restriction in blood supply to tissues.
spindle cell rhabdomyosarcoma (disorder)
spindle cell rhabdomyosarcoma (morphologic abnormality)
A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
mucinous cystadenoma of ovary (disorder)
proliferative type fibrocystic change of breast
Fibrocystic change, proliferative type with atypia (morphologic abnormality)
Fibrocystic disease, Proliferative type with Atypia
Proliferating Lesion of breast without Atypia
Proliferating Lesion of the breast without Atypia
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.
Thymic epithelial neoplasm (morphologic abnormality)
An immune system cancer located_in the thymus.
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.
Thymoma, malignant (morphologic abnormality)
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.
A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy.
A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts.
A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin.
A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties.
A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches.
Yersinia pseudotuberculosis infectious disease
Pasteurella pseudotuberculosis infection
A cell type benign neoplasm that is composed_of a mixture of gonadal elements.
A notochordal cancer that derives_from cellular remnants of the notochord.
An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
Teratocarcinoma (morphologic abnormality)
A germ cell cancer that occurs in many forms.
A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
primary extragonadal embryonal carcinoma
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
A mood disorder that involves alternating periods of mania and depression.
A cell type benign neoplasm that from perivascular epithelioid cells.
Angiomyolipoma (morphologic abnormality)
A cell type benign neoplasm that is composed of lipocytes.
Lipomatous neoplasm (morphologic abnormality)
Lymphangiomyomatosis (morphologic abnormality)
pulmonary lymphangioleiomyomatosis (disorder)
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
deficiency of beta-galactosidase (disorder)
benign epilepsy with centrotemporal spikes
benign childhood epilepsy with centrotemporal spike
chronic factitious illness with physical symptoms
A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.
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.
A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
Osteitis fibrosa cystica generalisata (disorder)
A bone disease that results_in inflammation of the located_in bone.
A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin.
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
malignant fibrous Histiocytoma of the 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.
malignant extraskeletal cartilaginous and osseous tumor
Nontraumatic rupture of extensor tendons of hand and wrist
Nontraumatic rupture of flexor tendons of hand and wrist
Nontraumatic rupture of quadriceps tendon
Nontraumatic rupture of tendons of biceps
Nontraumatic rupture of tendons of biceps (long head)
Nontraumatic rupture of tendons of biceps, long head
Arteriovenous aneurysm of coronary vessels
A peripheral primitive neuroectodermal tumor that is located_in bone.
Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
Ewing's sarcoma/peripheral primitive neuroectodermal tumor
Ewings sarcoma-primitive neuroectodermal tumor
localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
localized peripheral primitive neuroectodermal tumor
peripheral primitive neuroectodermal tumor
A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage.
Chondroblastic osteosarcoma (morphologic abnormality)
small cell osteosarcoma (morphologic abnormality)
A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum.
A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
disease of supporting structures of teeth, NOS
A keratosis characterized by abnormal thickening of the palms and the soles.
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.
syndrome of Inappropriate Antidiuretic Hormone Secretion
syndrome of inappropriate secretion of ADH
syndrome of inappropriate secretion of antidiuretic hormone
syndrome of inappropriate vasopressin secretion (disorder)
ectopic hormone secretion syndrome associated with neoplasia
neoplasm associated Ectopic Hormone Secretion syndromes
A lymphatic system disease that is characterized by an excessive number of histiocytes.
A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy.
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.
deficiency of alpha-mannosidase (disorder)
neoplasm of glossopharyngeal nerve (disorder)
disorder of vestibular function, unspecified
disorder of vestibular function, unspecified (disorder)
A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
Distal Myopathy with Rimmed Vacuoles (DMRV)
A acute laryngitis which is caused by viral infection.
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.
A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms.
An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
A penile cancer that is located_in the skin or tissues of the penis.
A female reproductive system disease that is located_in the uterus.
Paget's disease of skin (morphologic abnormality)
A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
Lobular carcinoma (morphologic abnormality)
Lobular carcinoma NOS (morphologic abnormality)
A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
hamartomatous polyp (morphologic abnormality)
A thoracic disease that is located_in the breast.
cartilaginous hamartoma (morphologic abnormality)
mesenchymal hamartoma (morphologic abnormality)
A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.
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.
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida.
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.
Turner's phenotype, karyotype normal (disorder)
Bonnevie-Ullrich syndrome NOS (disorder)
A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Connective tissue disease overlap syndrome (disorder)
mixed collagen vascular disease (disorder)
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
Signet ring carcinoma NOS (morphologic abnormality)
Signet ring cell carcinoma (morphologic abnormality)
An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of extrahepatic bile duct
adenocarcinoma of the extrahepatic bile duct
pancreatic signet ring cell adenocarcinoma
A pancreas adenocarcinoma that derives_from pancreatic duct cells.
gallbladder signet ring cell adenocarcinoma
Signet Ring cell carcinoma of the gallbladder
A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
ampullary signet ring cell adenocarcinoma
An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
prostate signet ring cell adenocarcinoma
A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
MSH:C538219 added from NeuroDevNet [WAK].
A sarcoma that affects children and is located_in the soft tissues of the body.
Posterior inferior cerebellar artery syndrome (disorder)
peste des petits ruminants infectious disease
A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate.
A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus.
A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
A cerebrum cancer that is located_in the cerebral ventricles.
Atypical choroid plexus papilloma (morphologic abnormality)
Superior mesenteric artery syndrome (disorder)
An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
Pseudomyxoma peritonei (morphologic abnormality)
intrathoracic lymph node mast cell malignancy
Mast cell malignancy of intrathoracic lymph nodes (disorder)
malignant mast cell tumors involving intrathoracic lymph nodes
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.
A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens.
upper limb lymph node mast cell malignancy
Mast cell malignancy of lymph nodes of axilla and upper limb (disorder)
malignant mast cell tumors involving lymph nodes of axilla and upper limb
A gastrointestinal system cancer that is located_in the liver.
malignant neoplasm of liver unspecified (disorder)
malignant neoplasm of liver, not specified as primary or secondary
non-resectable primary hepatic malignant neoplasm
primary malignant neoplasm of liver (disorder)
primary malignant neoplasm of liver NOS (disorder)
resectable malignant neoplasm of the liver
Thrombosis of lateral venous sinus (disorder)
Thrombosis of cavernous venous sinus (disorder)
Thrombosis of superior longitudinal sinus (disorder)
Thrombosis of superior sagittal sinus (disorder)
tubular androblastoma NOS (morphologic abnormality)
testicular mixed germ cell-sex cord-stromal neoplasm
testicular mixed germ cell-Sex Cord tumor
commensal Clostridium infectious disease
A pancreatic carcinoma located_in the pancreatic duct.
Poor Prognosis metastatic Gestational Trophoblastic tumor
Nonmetastatic Gestational Trophoblastic tumor
Choriocarcinoma, no ICD-O subtype (morphologic abnormality)
Placental site trophoblastic tumor (disorder)
Placental site trophoblastic tumor (morphologic abnormality)
Placental-Site Gestational Trophoblastic neoplasm
Good Prognosis metastatic Gestational Trophoblastic tumor
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
mucinous cystadenocarcinoma (morphologic abnormality)
mucinous cystadenocarcinoma NOS (morphologic abnormality)
mucinous cystadenocarcinoma of ovary (disorder)
Colloidal cystadenocarcinoma of the appendix
An appendix carcinoma that derives_from epithelial cells of glandular origin.
Spongy degeneration of central nervous system (disorder)
Angiolipoma, infiltrating (morphologic abnormality)
A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
A nervous system cancer that is located_in the central nervous system.
malignant neoplasm of central nervous system, NOS
neoplasm of central nervous system (disorder)
central nervous system neuroepithelial neoplasm
An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
Aortic aneurysm of unspecified site, ruptured
Aortic aneurysm of unspecified site, ruptured (disorder)
Ruptured abdominal aortic aneurysm (disorder)
Ruptured thoracic aortic aneurysm (disorder)
Thoracic aortic aneurysm which has ruptured (disorder)
Thoracoabdominal aortic aneurysm, ruptured (disorder)
ruptured thoracoabdominal aortic aneurysm
A female reproductive organ cancer that is located_in the uterus.
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.
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).
commensal Desulfovibrionaceae infectious disease
Nontraumatic rupture of bladder (disorder) [Ambiguous]
spontaneous rupture of bladder (disorder)
Inborn error of pyruvate metabolism (disorder)
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.
pyruvate dehydrogenase complex deficiency disease
A urinary system disease that is located_in the bladder.
An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate.
A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Infantile necrotizing encephalomyelopathy
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
A lysosomal storage disease characterized by increased sialic acid in the urine.
OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
A hematologic cancer that has_material_basis_in mast cells.
A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses.
A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system.
A embryonal cancer that is located in the kidney.
Lymphocytic pseudotumor of lung (disorder)
A supratentorial cancer that is located_in the cerebrum.
malignant neoplasm of lip, oral cavity and pharynx
malignant neoplasm of mouth NOS (disorder)
malignant neoplasm of mouth, unspecified
malignant neoplasm of other specified mouth parts (disorder)
malignant neoplasm of other specified parts of mouth
malignant neoplasm of palate NOS (disorder)
malignant neoplasm of palate unspecified (disorder)
malignant neoplasm of palate, unspecified
malignant neoplasm of pharynx unspecified (disorder)
malignant neoplasm of pharynx, unspecified
malignant tumor of oral cavity (disorder)
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Asthesioneuroblastoma (morphologic abnormality)
Esthesioneuroblastoma (morphologic abnormality)
Esthesioneuroepithelioma (morphologic abnormality)
Esthesioneuroepithelioma [dup] (morphologic abnormality)
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
An anal canal cancer that derives_from epithelial cells of glandular origin.
ampulla of Vater mucinous adenocarcinoma
A acute transudative otitis media which involves bloody effusion.
acute sanguinous otitis media (disorder)
A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course.
acute non-suppurative otitis media (disorder)
acute non-suppurative otitis media NOS (disorder)
acute non-suppurative otitis media [Ambiguous]
acute nonsuppurative otitis media (disorder)
acute nonsuppurative otitis media, unspecified
acute otitis media with effusion (disorder)
acute transudative otitis media (disorder)
uterine ligament mucinous adenocarcinoma
An integumentary system disease that is located_in skin.
Dermatitis due to Unspecified Substance taken Internally
Dermatitis due to substances taken internally
Dermatitis due to substances taken internally (disorder)
Dermatitis due to unspecified substance taken internally (disorder)
primary malignant neoplasm of olfactory nerve
A cervix carcinoma that derives_from epithelial cells of glandular origin.
A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
A bladder carcinoma that derives_from epithelial cells of glandular origin.
bladder adenocarcinoma, Not Otherwise Specified
An ovarian carcinoma that derives_from epithelial cells of glandular origin.
non-suppurative otitis media and eustachian tube disorder
A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed.
A stomach carcinoma that derives_from epithelial cells of glandular origin.
A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus.
plasmacytoma, extramedullary (not occurring in bone)
A acute sanguinous otitis media caused by an allergen.
acute allergic sanguinous otitis media (disorder)
A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person.
A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia.
primary Pasteurellaceae infectious disease
A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals.
A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
verrucous carcinoma NOS (morphologic abnormality)
verrucous squamous cell carcinoma (disorder)
human papillomavirus related squamous cell carcinoma
A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas.
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.
bladder verrucous squamous cell carcinoma
A carcinoma of bladder that is manifested in squamous cells of the bladder.
Epidermoid carcinoma of the urinary bladder
squamous cell carcinoma of bladder (disorder)
A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
squamous cell carcinoma of cervix (disorder)
squamous cell carcinoma of the Cervix Uteri
An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
squamous cell carcinoma of esophagus (disorder)
A cancer of urethra that shows squamous cell differentiation.
An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
hereditary thrombophilia due to congenital antithrombin deficiency
An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
Indeterminate sex and pseudohermaphroditism
Chordoid glioma (morphologic abnormality)
Preauricular sinus and fistula (disorder)
Preauricular sinus or fistula NOS (disorder)
A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
Empyema of pleura without fistula (disorder)
Empyema with pleural fistula NOS (disorder)
Empyema with thoracic fistula NOS (disorder)
Pleural empyema with no fistula (disorder)
A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting.
A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors.
A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
Bilirubin UDP glucuronyl transferase deficiency
Crigler-Najjar syndrome, type I (disorder)
Disseminated superficial actinic porokeratosis
Disseminated superficial actinic porokeratosis (disorder)
disseminated superficial actinic porokeratosis (DSAP)
A bone inflammation disease that is located_in joint.
Ankylosis of joint of ankle and/or foot (disorder)
Ankylosis of joint of forearm (disorder)
Ankylosis of joint of lower leg (disorder)
Ankylosis of joint of multiple sites (disorder)
Ankylosis of joint of shoulder region (disorder)
Ankylosis of joint of upper arm (disorder)
Joint ankylosis of the ankle and/or foot (disorder)
Joint ankylosis of the forearm (disorder)
Joint ankylosis of the lower leg (disorder)
Joint ankylosis of the pelvic region and thigh
Joint ankylosis of the pelvic region and thigh (disorder)
Joint ankylosis of the shoulder region (disorder)
Joint ankylosis of the upper arm (disorder)
ankylosis of joint of pelvic region and thigh
Chondromatous neoplasm (morphologic abnormality)
Chondromatous neoplasm NOS (morphologic abnormality)
Contact dermatitis due to Genus Toxicodendron
primary Chlamydiaceae infectious disease
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.
Chromophobe adenoma of the Pituitary gland
posttransplantation lymphoproliferative disease
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
craniopharyngioma (morphologic abnormality)
Adamantinous craniopharyngioma (morphologic abnormality)
Papillary craniopharyngioma (morphologic abnormality)
craniopharyngioma, papillary (morphologic abnormality)
Hemangiopericytic neoplasm NOS (morphologic abnormality)
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organ, NOS
malignant neoplasm of male genital organ, site unspecified
malignant neoplasm of male genital organ, unspecified (disorder)
malignant neoplasm of male genital organs (disorder)
malignant tumor of male Reproductive system
malignant tumor of male genital organ (disorder)
A medulloblastoma that is characterized by cells that are larger than would be normally expected.
large cell medulloblastoma (morphologic abnormality)
Medullomyoblastoma (morphologic abnormality)
region 17p13 allelic loss associated medulloblastoma
adult central nervous system primitive neuroectodermal neoplasm
desmoplastic medulloblastoma (morphologic abnormality)
nevoid basal cell carcinoma syndrome associated medulloblastoma
Medulloblastoma, melanotic (morphologic abnormality)
childhood central nervous system primitive neuroectodermal neoplasm
medulloblastoma with leptomeningeal spread
A phlebitis that results from a blood clot in the vessel.
Phlebitis and thrombophlebitis of superficial vessels of lower extremities
Thrombophlebitis of a superficial leg vein NOS (disorder)
Thrombophlebitis of superficial veins of lower extremity (disorder)
primary chronic pseudo-obstruction of colon (disorder)
Pseudo-obstruction of intestine (disorder)
An autosomal dominant disease that is characterized by and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
HNPCC - hereditary nonpolyposis colon cancer
Hereditary Defective Mismatch Repair syndrome
hereditary non-polyposis colon cancer type 1
hereditary nonpolyposis colorectal cancer
hereditary nonpolyposis colorectal neoplasm
A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
An adenoma that is located_in the pancreas and is characterized by overproduction of insulin.
Islet cell adenoma (morphologic abnormality)
Apocrine adenoma (morphologic abnormality)
Sweat gland adenoma (morphologic abnormality)
skin appendage adenoma (morphologic abnormality)
Adnexal and skin appendage neoplasm (morphologic abnormality)
Adnexal and skin appendage neoplasm NOS (morphologic abnormality)
Adnexal and skin appendage tumor (qualifier value)
Antenatal deep vein thrombosis NOS (disorder)
Antenatal deep vein thrombosis unspecified (disorder)
Antepartum deep phlebothrombosis (disorder)
Deep phlebothrombosis, antepartum, unspecified as to episode of care
Deep phlebothrombosis, antepartum, with delivery
Deep phlebothrombosis, postpartum, with delivery
A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle.
A bronchus cancer that has_material_basis_in epithelial cells.
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.
A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.
Progeria syndrome (disorder) [Ambiguous]
borderline malignancy serous cystadenoma
Low Malignancy Potential serous Cystadenoma
malignant neoplasm of main bronchus (disorder)
malignant neoplasm of main bronchus NOS (disorder)
pelvic lipomatosis (morphologic abnormality)
A otitis which involves inflammation of the inner ear.
A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.
Adrenal cortical carcinoma (morphologic abnormality)
An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
A thyroid carcinoma that has_material_basis_in follicular cells.
Follicular adenocarcinoma (morphologic abnormality)
Follicular adenocarcinoma, well differentiated (morphologic abnormality)
Follicular carcinoma of the Thyroid gland
A thyroid cancer that has_material_basis_in epithelial cells.
Follicular adenocarcinoma, trabecular (morphologic abnormality)
Trabecular adenocarcinoma (morphologic abnormality)
papillary follicular thyroid adenocarcinoma
A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer.
Papillary carcinoma of the Thyroid gland
Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
primary restrictive cardiomyopathy (disorder)
A follicular thyroid carcinoma that has_material_basis_in parafollicular cells.
Medullary carcinoma of the Thyroid gland
Medullary carcinoma (morphologic abnormality)
Medullary carcinoma NOS (morphologic abnormality)
A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium.
Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination
tuberculosis of skin and subcutaneous cellular tissue
pantothenate kinase-associated neurodegeneration
A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.
Pigmentary pallidal degeneration (disorder)
neurodegeneration with brain iron accumulation 1
A cranio-facial dystonia that is accompanied by blepharospasm.
A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules.
A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus.
Infection by Strongylus equinus (disorder)
A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
urinary tract infiltrating transitional cell carcinoma
Bartholin's gland transitional cell carcinoma
Bartholin gland transitional cell carcinoma
A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
Bartholin's gland carcinoma (morphologic abnormality)
carcinoma of Bartholin's gland (disorder)
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.
malignant ovarian transitional cell neoplasm
A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
transitional cell carcinoma of bladder (disorder)
A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
fallopian tube transitional cell carcinoma
renal pelvis and ureter transitional cell cancer
Urothelial carcinoma of the renal Pelvis and Ureter
A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
Papillary transitional cell carcinoma (morphologic abnormality)
An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
transitional cell carcinoma, sarcomatoid
A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells.
spindle cell carcinoma (morphologic abnormality)
A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible.
Linitis plastica (morphologic abnormality)
An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
Scirrhous adenocarcinoma (morphologic abnormality)
A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
A stomach disease that is an inflammation of the lining of the stomach.
Idiopathic erosive/hemorrhagic gastritis (disorder)
acute gastric mucosal erosion (disorder)
acute gastritis without mention of hemorrhage
acute gastritis, without mention of hemorrhage
A gastrointestinal system disease that is located_in the mouth.
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.
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen.
Helicobacter-associated gastritis (disorder)
An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting.
Tuberculosis of gastrointestinal tract (disorder)
Tuberculosis of gastrointestinal tract NOS (disorder)
Tuberculosis of intestines, peritoneum and mesenteric glands (disorder)
Tuberculosis of intestines, peritoneum, and mesenteric glands
tuberculosis of intestines, peritoneum and mesenteric glands
A musculoskeletal system cancer that is located_in muscle.
A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents.
A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
Alveolar rhabdomyosarcoma (morphologic abnormality)
A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
A prostate cancer that is located_in the prostate.
Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)
A gallbladder sarcoma that is located_in the gallbladder.
A sarcoma that is located_in the gallbladder.
malignant mesenchymal tumor of gallbladder
A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
A sarcoma and malignant neoplasm of testis that is located_in the testis.
A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
A sarcoma and malignant neoplasm of anus that is located_in the anus.
A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice.
cystadenocarcinoma of pancreas (disorder)
A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
bile duct cystadenocarcinoma (morphologic abnormality)
metastasizing mixed tumor of salivary gland
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.
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).
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.
Tricuspid valve regurgitation (disorder)
A germ cell and embryonal cancer that derives_from trophoblastic tissue.
Trophoblastic neoplasm (morphologic abnormality)
Trophoblastic neoplasm NOS (morphologic abnormality)
testicular germ cell tumor non-seminomatous
A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces.
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.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.
A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact.
metastatic squamous cell carcinoma (disorder)
squamous cell carcinoma, metastatic (morphologic abnormality)
squamous cell carcinoma, metastatic NOS (morphologic abnormality)
A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract.
A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching.
commensal Bacteroidaceae infectious disease
primary Flavobacteriaceae infectious disease
A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.
Infection due to Mycobacterium bovis (disorder)
parasitic ectoparasitic infectious disease
A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
A cervical carcinosarcoma that is located_in the cervix.
cervical malignant mixed Mullerian tumor
cervical malignant mixed mesodermal mullerian tumor
cervical mixed epithelial and mesenchymal neoplasm
An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
A uterine corpus cancer that has_material_basis_in more than one type of cell.
An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary.
A vaginal carcinosarcoma derives_from the glands that line the uterus.
atypical Mycobacterium infectious disease
Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder)
Mycobacterial infection, NOS (excluding tuberculosis and leprosy)
A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back.
An integumentary system disease that is located_in nail.
A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense.
Infection due to Mycobacterium avium (disorder)
Infection due to Corynebacterium minutissimum (disorder)
A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.
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.
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.
gastrointestinal neuroendocrine benign tumor
A chordoma that is located_in the skull base.
A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
Chondroid chordoma (morphologic abnormality)
A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.
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.
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
Ganglioneuroblastoma (morphologic abnormality)
neuroblastoma of the cerebral hemisphere
A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
hypersensitivity reaction type II disease
An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
Rh incompatibility affecting management of mother
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous]
Pseudopseudohypoparathyroidism (disorder)
A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
A speech disorder that involves the automatic repetition of vocalizations made by another person.
A speech disorder that involves a complete inability to speak.
A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
disorder of glucose metabolism (disorder)
commensal Bifidobacteriales infectious disease
malignant neoplasm of brainstem (disorder)
malignant neoplasm of brainstem NOS (disorder)
brainstem intraparenchymal clear cell meningioma
Intraparenchymal Clear cell meningioma of the Brainstem
An integumentary system disease that is located_in hair.
Clear cell meningioma (morphologic abnormality)
meningioma of the Posterior Cranial Fossa
Brenner tumor, malignant (morphologic abnormality)
Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus.
A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body.
uterine corpus endometrial stromal sarcoma
uterine corpus endometrial stromal tumor
Stromal sarcoma (morphologic abnormality)
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
Clear cell sarcoma (morphologic abnormality)
malignant melanoma of soft tissues (disorder)
A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Mesodermal mixed tumor (morphologic abnormality)
malignant mixed mesodermal (mullerian) tumor
mullerian mixed tumor (morphologic abnormality)
malignant soft tissue neoplasm of central nervous system
A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
primary atelectasis, in perinatal period (disorder)
malignant miscellaneous mesenchymal tumor
A kidney cancer that is located_in the kidney's connective tissue.
extraskeletal cartilaginous and osseous tumor
malignant soft tissue tumor of mediastinum
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
certain conditions originating in the perinatal period
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.
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
A bone remodeling disease that results_in abnormal elevated bone density or mass.
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.
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.
An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes.
A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder.
skin infundibulocystic basal cell carcinoma
Basal cell carcinoma, nodular (morphologic abnormality)
Circumscribed solid basal cell carcinoma
skin nodulo-ulcerative basal cell carcinoma
skin solid (nodular) Basal cell carcinoma
Basosquamous carcinoma of skin (disorder)
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).
complications of pregnancy, childbirth and the puerperium
Basal cell carcinoma of the External ear
An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Basal cell carcinoma - adamantinoid (disorder)
Melanotic adamantinoma of skin (disorder)
skin adamantinoid basal cell epithelioma
Morphea-type (Sclerosing) Basal cell carcinoma
Multifocal superficial basal cell carcinoma (morphologic abnormality)
Superficial multicentric basal-cell carcinoma
skin signet ring cell basal cell carcinoma
A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell).
Giant cell tumor of bone (morphologic abnormality)
Giant cell tumor of bone NOS (morphologic abnormality)
Smooth muscle tumor NOS (morphologic abnormality)
Smooth muscle tumour of uncertain malignant potential
acquired epidermolysis bullosa (disorder)
A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia.
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.
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses.
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
Intraventricular hemorrhage from any perinatal cause
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.
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.
Dermatophytosis of scalp or beard (disorder)
Dermatophytosis of scalp or beard NOS (disorder)
tinea capitis due to Trichophyton rubrum
complications occurring mainly in the course of labor and delivery
Rupture of uterus before onset of labor, antepartum
Rupture of uterus before onset of labor, with delivery
malignant neoplasm of thymus, heart and mediastinum
primary Anaplasmataceae infectious disease
malignant tumor of ciliary body (disorder)
malignant melanoma, regressing (morphologic abnormality)
Amelanotic melanoma (morphologic abnormality)
epithelioid cell melanoma (morphologic abnormality)
A female reproductive organ cancer that is located_in the cervix.
apparent mineralocorticoid excess syndrome
syndrome of apparent mineralocorticoid excess (disorder)
Cerebral embolism with cerebral infarction
A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual.
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.
A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
autoimmune disease of the nervous system
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.
recurrent peripheral primitive neuroectodermal tumor
peripheral Neuroectodermal tumor of soft tissues
A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.
Reticulohistiocytic granuloma (morphologic abnormality)
Pustular psoriasis of the palms and/or soles
A neuropathy that affect the nerves that control the voluntary muscles.
Dermatosis papulosa nigra (morphologic abnormality)
Occupational allergic contact dermatitis (disorder)
Occupational eczema (disorder) [Ambiguous]
Contact dermatitis due to arnica (disorder)
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses.
Fibroxanthoma NOS (morphologic abnormality)
benign fibrous histiocytoma (morphologic abnormality)
fibrous histiocytoma NOS (morphologic abnormality)
Dermatofibroma, no ICD-O subtype (morphologic abnormality)
Sclerosing angioma (morphologic abnormality)
Multiple eruptive juvenile xanthogranuloma
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
pancreatic delta cell somatostatin producing neoplasm
A germinoma that has_material_basis_in cells that make sperm and eggs.
A germ cell cancer that derives_from cells that give rise to egg cells.
An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.
Cyst of central nervous system (disorder)
A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
Macular degeneration of retina, unspecified
Aldosteronism with hyperplasia of the adrenal cortex
A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
multilocular clear cell renal cell carcinoma
Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).
A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
Clear cell carcinoma of kidney (disorder)
Clear-cell metastatic renal cell carcinoma
MSH:C538445 added from NeuroDevNet [WAK].
conventional (Clear cell) renal cell carcinoma
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell adenocarcinoma (morphologic abnormality)
Clear cell adenocarcinoma NOS (morphologic abnormality)
Mesonephroma NOS (morphologic abnormality)
Mesonephroma, malignant (morphologic abnormality)
Water-clear cell adenocarcinoma (morphologic abnormality)
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.
mucinous tubular and spindle renal cell carcinoma
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
Allergic rhinitis due to pollen (disorder)
Seasonal allergic rhinitis (disorder) [Ambiguous]
allergic rhinitis due to animal (cat) (dog) hair and dander
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.
Mesothelioma, biphasic, malignant (morphologic abnormality)
malignant fibrous mesothelioma (morphologic abnormality)
sarcomatoid mesothelioma (morphologic abnormality)
epithelioid mesothelioma, malignant (morphologic abnormality)
malignant peritoneal solitary fibrous tumor
Pleural and peritoneal Solitary fibrous tumor
A syndrome affecting returning military veterans and civilian workers of the Gulf War.
An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites.
disease due to Orthomyxoviridae (disorder)
metastatic malignant neoplasm to the cervix
secondary malignant neoplasm of cervix uteri (disorder)
secondary malignant neoplasm of uterine cervix (disorder)
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene.
A central nervous system sarcoma that is located_in the inner lining of blood vessels.
An angiosarcoma that is located_in the aorta.
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.
An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
A thyroid cancer that is located_in the supporting cells of the thyroid.
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.
A gastrointestinal benign neoplasm that is a located_in the salivary glands.
Pleomorphic adenoma (morphologic abnormality)
endometrial stromal sarcoma of the cervix
An angiosarcoma and sarcoma of prostate that is located_in the prostate.
An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells.
Mucoepidermoid carcinoma (morphologic abnormality)
A syndrome that affects growth, cranial development, hair growth and dental development.
A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
An agnosia that involves a severe problem with recalling words or names.
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage.
extraskeletal mesenchymal chondrosarcoma
extraskeletal mesenchymal chondrosarcoma (disorder)
A chondrosarcoma that is located_in exclusively soft tissue.
A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.
Thymoma, type C (morphologic abnormality)
ovarian large-cell neuroendocrine carcinoma
Non-small-cell type neuroendocrine carcinoma of Ovary
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.
Subacute bacterial endocarditis (disorder)
A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end.
deletion of short arm of chromosome 1 (1p) associated meningioma
Choroid meningioma (morphologic abnormality)
Secretory meningioma (morphologic abnormality)
deletion of chromosome 22 associated meningioma
meningiomatosis (morphologic abnormality)
meningiomatosis NOS (morphologic abnormality)
Lymphoplasmocyte-rich meningioma (morphologic abnormality)
Microcystic meningioma (morphologic abnormality)
deletion of chromosome 3p associated meningioma
Bullous ichthyosiform erythroderma (disorder)
Epidermolytic palmoplantar hyperkeratosis
bullous congenital ichthyosiform erythroderma
A biliary tract cancer that is located_in the bile duct.
malignant neoplasm of the extrahepatic bile duct
A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
Myomatous neoplasm (morphologic abnormality)
Myomatous neoplasm NOS (morphologic abnormality)
A gastrointestinal system benign neoplasm that is located_in the intestine.
A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung.
Atypical interstitial pneumonia of cattle (disorder)
acute bovine pulmonary emphysema AND edema (disorder)
A jaw cancer and maxillary disease that effects the maxilla or upper jaw.
A cancer that affects an anatomical entity.
malignant neoplasm of aortic body and other paraganglia
malignant neoplasm of aortic body and other paraganglia (disorder)
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.
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.
porcine reproductive and respiratory syndrome
A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia.
Epidermolysis bullosa simplex (disorder)
A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region.
A retinoblastoma that develops in both eyes.
A retinoblastoma that effects only one eye.
A retinoblastoma that is located_in the eye and has not spread to other parts of the body.
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.
Indolent systemic mastocytosis (disorder)
Indolent systemic mastocytosis (morphologic abnormality)
A syndrome that is an adverse physical reaction to low levels of many common chemicals.
superficial keratitis without conjunctivitis
A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column.
A kyphosis that results_in abnormal formation located_in body of vertebra.
Venous hemangioma (morphologic abnormality)
A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Intramuscular hemangioma (morphologic abnormality)
Mucoepidermoid carcinoma of the bile duct
carcinoma of extrahepatic bile duct (disorder)
Mucoepidermoid carcinoma of skin (disorder)
skin appendage carcinoma (morphologic abnormality)
Mucoepidermoid carcinoma of the lacrimal gland
Mucoepidermoid carcinoma of the esophagus
pediatric neurogenic tumor of mediastinum
malignant mediastinal neurogenic neoplasm
A mediastinal cancer that has_material_basis_in neural cells.
A globe disease that is characterized by inflammation of the inside of the eye.
malignant tumor of peripheral nerve (disorder)
verrucous keratotic hemangioma (morphologic abnormality)
Congenital giant pigmented nevus of skin (disorder)
Intermediate and giant congenital naevus
Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS]
A brain cancer that is located_in the infratentorial region.
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.
A malignant giant cell tumor that is composed_of multinucleated giant cells.
Giant cell tumor of bone, malignant (morphologic abnormality)
neck neoplasm (Including All Pharyngeal Related neoplasm)
Unspecified adhesions of iris (disorder)
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.
A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
physiological malfunction arising from mental factor
Angiolymphoid hyperplasia with eosinophilia (disorder)
epithelioid hemangioma (morphologic abnormality)
mixed embryonal carcinoma and teratoma of the testis
mixed Embryonal carcinoma and teratoma of testis
A mixed germ cell cancer that is located_in the testis.
A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus.
peripheral anterior synechiae (disorder)
A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge.
An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children.
A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
epithelial predominant pulmonary blastoma
A pulmonary blastoma that derives_from the lung or pleural cavity.
Pleuropulmonary blastoma (morphologic abnormality)
A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life.
Mesoblastic nephroma (morphologic abnormality)
feline acquired immunodeficiency syndrome
A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system.
Rapidly progressive glomerulonephritis (disorder)
anti-basement membrane glomerulonephritis
mesangial proliferative glomerulonephritis
Mesangial proliferative glomerulonephritis (disorder)
Immune-complex glomerulonephritis (disorder)
primitive neuroectodermal tumor with Leptomeningeal Spread
cerebellopontine angle primitive neuroectodermal
intracranial primitive neuroectodermal tumor
Medulloepithelioma NOS (morphologic abnormality)
Medulloepithelioma, central nervous system
supratentorial primitive neuroectodermal tumor
Tay-Sachs disease, variant AB (disorder)
systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)
Aggressive systemic mastocytosis (morphologic abnormality)
Lymphadenopathic mastocytosis with eosinophilia
AIDS-related idiopathic thrombocytopenic purpura
A reproductive system disease that affects male reproductive organs.
A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation.
An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness.
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food.
A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice.
central nervous system hereditary degenerative disease
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.
Occult Non-small cell carcinoma of the lung
Cavernous hemangioma (morphologic abnormality)
A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous carcinoma (morphologic abnormality)
mixed adenocarcinoma and squamous carcinoma
Mast cell malignancy of spleen (disorder)
malignant mast cell tumors involving spleen
relapsed Unspecified carcinoma of the lung
A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
A carcinoma that derives_from myoepithelial cells.
malignant tumor of epidermal appendage (disorder)
cauda equina intradural extramedullary astrocytoma
Intradural Extramedullary Astrocytic tumor of the Cauda Equina
An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
Pilocytic astrocytoma of cerebellum (disorder)
Diffuse astrocytoma (morphologic abnormality)
A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method.
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses.
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.
adenoid cystic carcinoma (morphologic abnormality)
adenoid cystic carcinoma of the Cervix Uteri
adenoid cystic carcinoma of the prostate
adenoid cystic carcinoma of lacrimal gland
adenoid cystic eccrine carcinoma (morphologic abnormality)
adenoid cystic eccrine carcinoma of skin (disorder)
adenoid cystic carcinoma of trachea (disorder)
(Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea)
A tracheal cancer that effects the airway that leads from the larynx to the bronchi.
An esophageal carcinoma that derives_from epithelial cells of the salivary gland.
Bartholin's gland adenoid cystic carcinoma
Bartholin gland adenoid cystic carcinoma
Clear cell sarcoma of kidney (morphologic abnormality)
A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.
A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.
A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
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.
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.
A middle ear carcinoma that derives_from epithelial cells of glandular origin.
A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A bile duct carcinoma that derives_from epithelial cells of glandular origin.
A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
adenocarcinoma in adenomatous polyp (morphologic abnormality)
mixed cell adenocarcinoma (morphologic abnormality)
primary peritoneal serous adenocarcinoma
An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.
granular cell carcinoma (morphologic abnormality)
adenocarcinoma, intestinal type (morphologic abnormality)
A pancreas cancer that derives_from epithelial cells located_in the pancreas.
A small intestine carcinoma that derives_from epithelial cells of glandular origin.
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
An urethra cancer that derives_from epithelial cells of glandular origin.
Superficial spreading adenocarcinoma (morphologic abnormality)
Disseminated adenocarcinoma (morphologic abnormality)
An esophageal carcinoma that derives_from epithelial cells of glandular origin.
Basophil carcinoma (morphologic abnormality)
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture.
villous adenocarcinoma (morphologic abnormality)
A renal pelvis carcinoma that derives_from epithelial cells of glandular origin.
malignant neoplasm of renal pelvis NOS (disorder)
malignant tumor of renal pelvis (disorder)
An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.
Eccrine adenocarcinoma (morphologic abnormality)
Juvenile carcinoma of the breast (morphologic abnormality)
A thymic carcinoma that derives_from epithelial cells of glandular origin.
human papillomavirus related adenocarcinoma
A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas.
Alveolar adenocarcinoma (morphologic abnormality)
Bronchiolo-alveolar adenocarcinoma (morphologic abnormality)
Klatskin's tumor (morphologic abnormality)
Perihilar extrahepatic bile duct carcinoma
Intrahepatic bile duct carcinoma (disorder)
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma.
tubular adenocarcinoma (morphologic abnormality)
A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.
A nasal cavity cancer that_has_material_basis_in epithelial cells.
An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of ampulla of vater (disorder)
An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin.
Apocrine adenocarcinoma (morphologic abnormality)
Acidophil carcinoma (morphologic abnormality)
mixed acidophil-basophil carcinoma (morphologic abnormality)
An ureter carcinoma that derives_from epithelial cells of glandular origin.
An ureter cancer that is located_in the ureter.
combined hepatocellular carcinoma and cholangiocarcinoma
Combined hepatocellular carcinoma and cholangiocarcinoma (disorder)
Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality)
carcinoma of Liver and Intrahepatic biliary tract
adenocarcinoma in situ (morphologic abnormality)
gastroesophageal junction adenocarcinoma
adenocarcinoma of Cardioesophageal junction
adenocarcinoma of gastroesophageal junction
A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
adult primary cholangiocellular carcinoma
A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems.
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.
central nervous system melanocytic neoplasm
central nervous system primary melanocytic lesion
primary melanocytic lesion of meninges (disorder)
hemangiopericytoma of meninges (disorder)
central nervous system hemangiopericytoma
A hemangiopericytoma which is manifested in the central nervous system.
Dystrophic epidermolysis bullosa (disorder)
spindle cell hemangioendothelioma [dup] (morphologic abnormality)
A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
Myeloid neoplasm (morphologic abnormality)
Myeloproliferative disease, no ICD-O subtype (morphologic abnormality)
Myeloproliferative disorder (morphologic abnormality)
primary malignant neoplasm of bone marrow (disorder)
An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.
An anxiety disorder that involves discress but neither delusions nor hallucinations.
Adrenal hypertrophy or hyperplasia (disorder)
A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.
Aphasia-angular gyrus syndrome (disorder)
An agnosia that results in the loss of the ability to consciously recognize familiar faces.
A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
myelodysplastic myeloproliferative cancer
A bone marrow cancer that results_in the overproduction of white blood cells.
Myeloproliferative/Myelodysplastic syndromes
myelodysplastic myeloproliferative disease
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media.
Lymphatic edema (morphologic abnormality)
recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor
recurrent primitive neuroectodermal tumor
metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraosseous Ewings sarcoma-primitive neuroepithelial tumor
A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
Atypical polypoid adenomyoma (morphologic abnormality)
An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
An endocrine system disease that is located_in the thyroid.
A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat.
A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones.
Fibrolamellar hepatocellular carcinoma (disorder)
Hepatocellular carcinoma, fibrolamellar (morphologic abnormality)
hepatitis virus related hepatocellular carcinoma
central nervous system mesenchymal non-meningothelial tumor
aflatoxins-related hepatocellular carcinoma
A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite.
pineal parenchymal tumor of intermediate differentiation
Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)
Pineal parenchymal tumour of intermediate differentiation
An endocrine gland located_in the pineal gland located in the brain.
malignant tumor of pineal gland (disorder)
malignant granular cell esophageal tumor
A gastrointestinal system cancer that is located_in the esophagus.
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 the middle Third of the esophagus
granular cell tumor, malignant (morphologic abnormality)
malignant granular cell tumor (disorder)
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.
neuronal and mixed neuronal-glial tumor of cerebellum
Papillary meningioma (morphologic abnormality)
meningioma, rhabdoid (morphologic abnormality)
A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
Metatypical carcinoma (morphologic abnormality)
A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.
central nervous system soft tissue neoplasm
malignant meningeal neoplasm (morphologic abnormality)
malignant neoplasm of meninges, unspecified
malignant neoplasm of meninges, unspecified (disorder)
A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
Myxopapillary ependymoma (morphologic abnormality)
Subependymal giant cell astrocytoma (morphologic abnormality)
A cell type benign neoplasm that has_material_basis_in glial-type cells.
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration.
A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression.
A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen.
A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.
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.
An auditory system cancer that is located_in the middle ear.
Nonpigmented nevus (morphologic abnormality)
A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea.
A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7.
skin tumor of smooth muscle origin (disorder)
leiomyomatosis, no ICD-O subtype (morphologic abnormality)
cellular leiomyoma (morphologic abnormality)
A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.
A connective tissue cancer that located_in the pleura.
Arteriosclerosis obliterans (disorder) [Ambiguous]
Arteriolosclerosis (morphologic abnormality)
An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus.
endometrial stromal tumor (morphologic abnormality)
carcinoma in situ of endometrium (disorder)
blastema predominant kidney Wilms' tumor
blastema predominant kidney adenosarcoma
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted.
epithelial Predominant renal Wilms tumor
epithelial predominant kidney adenosarcoma
A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney.
intermixed schwannian stroma-rich ganglioneuroblastoma
peripheral nervous system ganglioneuroblastoma
An artery disease that is characterized by degeneration of the cells composing the aortic wall.
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.
fructose 1 phosphate aldolase deficiency
Monodermal teratoma (morphologic abnormality)
Struma ovarii, malignant (morphologic abnormality)
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
carbohydrate-deficient glycoprotein syndrome
chronic inflammatory demyelinating polyradiculoneuropathy
chronic inflammatory demyelinating polyradiculoneuropathy (disorder)
peripheral demyelinating neuropathy (disorder)
A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation.
acute necrotizing encephalitis (disorder)
Encephalitis lethargica (disorder) [Ambiguous]
cellular blue nevus (morphologic abnormality)
glomus tumor of uncertain malignant potential
A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
Opisthorchis Viverrini-Related Cholangiocellular carcinoma
non-resectable cholangiocellular carcinoma
A leiomyosarcoma and sarcoma of colon that is located_in the colon.
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.
A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
A sarcoma and malignant neoplasm of heart that is located_in the heart.
A leiomyosarcoma and sarcoma of lung that is located_in the lung.
A leiomyosarcoma and sarcoma of the anus that is located_in the anus.
Myxoid leiomyosarcoma (morphologic abnormality)
A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.
A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
malignant mesenchymal neoplasm of the stomach
malignant mesenchymal neoplasm of stomach
A prostate sarcoma that is located_in the prostate.
A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx.
A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
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.
A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
A gastrointestinal system disease that is located_in the intestine.
A leiomyosarcoma and sarcoma of liver that is located_in the liver.
A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.
An endocrine system disease that is located_in the pituitary gland.
An adnexa disease that is located_in the eyelid.
fallopian tube clear cell adenocarcinoma
Clear cell carcinoma of the fallopian tube
uterine ligament clear cell adenocarcinoma
Clear cell carcinoma of the Cervix Uteri
Clear cell adenocarcinoma of the urethra
ampulla of Vater clear cell adenocarcinoma
glycogen-rich clear cell breast carcinoma
Glycogen-rich carcinoma (morphologic abnormality)
An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.
An alveolar soft part sarcoma that recurs over time.
alveolar soft part sarcoma nonmetastatic
An alveolar soft part sarcoma that has not spread to other parts of the body.
Non-metastatic Alveolar soft Part sarcoma
An alveolar soft part sarcoma that has spread to other parts of the body.
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
Partial recent retinal detachment with single defect
Partial recent retinal detachment with single defect (disorder)
Recent retinal detachment, partial, with single defect
Retinal detachment with defect NOS (disorder)
Retinal detachment with retinal defect (disorder)
Retinal detachment with retinal defect, unspecified
Unspecified retinal detachment with retinal defect (disorder)
persistent disorder of initiating or maintaining wakefulness
An amnestic disorder that involves the impaired or lost ability to memorize new things.
An endodermal sinus tumor that occurs in children.
central nervous system endodermal sinus tumor
childhood central nervous system endodermal sinus neoplasm
pediatric central nervous system Yolk Sac tumor
testicular non-seminomatous germ cell cancer
malignant Non-Seminomatous germ cell tumor of testis
mediastinal non-seminomatous germ cell cancer
Non-Seminomatous malignant germ cell tumor of mediastinum
An endodermal sinus tumor that occurs in adults.
central nervous system adult germ cell tumor
A disease of mental health that involves disruption of sleep patterns.
Endodermal sinus tumor of ovary (disorder)
mucinous bronchioloalveolar lung carcinoma
non-mucinous bronchioloalveolar lung carcinoma
Non-mucinous Bronchoalveolar lung carcinoma
persistent disorder of initiating or maintaining sleep
mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma
mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma
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.
Myxoid liposarcoma (morphologic abnormality)
Coin lesion of lung (context-dependent category)
ovine progressive interstitial pneumonia
A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever.
progressive interstitial pneumonia of sheep
progressive pneumonia of sheep (disorder)
A hemangiopericytoma that is manifested in the breast.
An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
bile duct adenoma (morphologic abnormality)
bile duct cystadenoma (morphologic abnormality)
An adenoma that is composed_of cells with a clear cytoplasm located_in ovary.
Clear cell adenoma (morphologic abnormality)
Bronchial adenoma NOS (morphologic abnormality)
Secretory adenoma of the Pituitary gland
malignant prolactin producing neoplasm of pituitary gland
An adenoma that is composed_of adipose tissue.
A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin.
pulmonary adenomatosis (morphologic abnormality)
Trabecular adenoma (morphologic abnormality)
An adenoma that derives_from epithelial cells which have clear cytoplasm.
Water-clear cell adenoma (morphologic abnormality)
Microcystic adenoma (morphologic abnormality)
Atypical adenoma (morphologic abnormality)
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.
Xref MGI. MSH:C538098 added from NeuroDevNet [WAK].
A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells.
small cell neuroendocrine carcinoma of lung
Oat cell carcinoma (morphologic abnormality)
poorly differentiated Endocrine neoplasm
relapsed small cell carcinoma of the lung
A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.
Combined small cell carcinoma of the lung
combined type small cell carcinoma of lung
An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
Flat Intraepithelial Lesion of the urinary bladder
bladder papillary transitional cell neoplasm
urinary bladder Papillary Urothelial neoplasm
urinary tract papillary transitional cell benign neoplasm
Papillary transitional cell neoplasm of the urinary tract
Bovine spongiform encephalopathy (disorder)
A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.
Clear cell hidradenoma (morphologic abnormality)
Eccrine spiradenoma (morphologic abnormality)
Papillary Syringadenoma (Syringocystadenoma Papilliferum)
Papillary syringadenoma (morphologic abnormality)
Syringocystadenoma papilliferum (disorder)
Eccrine papillary adenoma (morphologic abnormality)
Eccrine papillary adenoma morphology (morphologic abnormality)
Eccrine papillary adenoma of skin (disorder)
pulmonary veno-occlusive disease (disorder)
A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides).
Mycoplasma infection, unspecified (disorder)
disease caused by Mycoplasma [Ambiguous]
A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia.
Intraepithelial Neoplasia of Conjunctiva
malignant neoplasm of conjunctiva (primary)
malignant tumor of conjunctiva (disorder)
A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
biliary tract intraductal papillary mucinous neoplasm
Clear cell adenofibroma (morphologic abnormality)
malignant hypertensive heart disease (disorder)
malignant hypertensive heart disease NOS (disorder)
An adenofibroma that is composed_of epithelial ovarian tissue.
A synovium cancer which develops in the synovial membrane of the joints.
Synovial sarcoma with spindle cell Components
A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum.
An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system.
Synovial sarcoma, biphasic (morphologic abnormality)
Synovial sarcoma, epithelioid cell (morphologic abnormality)
A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.
A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
Louse infestation (& [pediculosis and phthirus] or [lice])
Pediculosis and phthirus infection NOS (disorder)
Pediculosis and phthirus infections (disorder)
A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal.
A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
Pneumonitis due to fumes and/or vapors (disorder)
acute pulmonary edema due to fumes and vapors
bronchitis and pneumonitis due to fumes and vapors
A dysgerminoma that is located_in the ovary.
A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
primary squamous cell carcinoma of breast
primary squamous cell carcinoma of the breast
A nasal cavity carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of the nasal cavity
A stomach cancer that is located_in the stomach.
A penis carcinoma that has_material_basis_in squamous cells.
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.
A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
squamous cell carcinoma of the head and neck
squamous cell carcinomas of head and neck
A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
squamous cell carcinoma, keratinizing (morphologic abnormality)
A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
Basaloid carcinoma (morphologic abnormality)
Basaloid squamous cell carcinoma (morphologic abnormality)
A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.
Acantholytic squamous cell carcinoma (disorder)
adenocarcinoma with squamous metaplasia (morphologic abnormality)
adenoid squamous cell carcinoma (morphologic abnormality)
An anal carcinoma that arises near the squamocolumnar junction.
A middle ear carcinoma that has_material_basis_in squamous cells.
ampulla of Vater squamous cell carcinoma
An ampulla of Vater carcinoma that derives_from epithelial squamous cells.
Epidermoid carcinoma of the lacrimal gland
squamous cell carcinoma of lacrimal gland
Epidermoid carcinoma of the kidney Pelvis
squamous cell carcinoma of the gallbladder
sarcomatoid squamous cell skin carcinoma
spindle cell (sarcomatoid) squamous cell carcinoma
spindle cell (sarcomatoid) squamous cell skin carcinoma
spindle cell squamous carcinoma of skin (disorder)
spindle cell squamous cell carcinoma (disorder)
Epidermoid carcinoma of the External ear
squamous cell carcinoma of the fallopian tube
A bone cancer that is located_in the femur.
A testicular cancer that has_material_basis_in germ cells.
A thoracic cancer that is located_in the mediastinum.
dermoid cyst with malignant transformation
Dermoid cyst with malignant transformation (morphologic abnormality)
teratoma with malignant transformation (morphologic abnormality)
teratoma with malignant transformation [dup] (morphologic abnormality)
Microcystic adnexal carcinoma of skin (disorder)
A urinary system disease that is located_in the kidney.
Eccrine ductal carcinoma (morphologic abnormality)
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin.
Vasoactive intestinal peptide-secreting tumor (disorder)
malignant vasoactive intestinal peptide-secreting tumor
Delay in sexual development and/or puberty
A neuroendocrine tumor that results_in an overproduction of gastric acid.
small intestinal G-cell gastrin producing tumor
acute pyelonephritis without lesion of renal medullary necrosis
A lung carcinoma that is located_in large undifferentiated cells.
Multiple self-healing epithelioma of Ferguson-Smith (disorder)
aggressive digital papillary adenocarcinoma
intraductal papillary adenocarcinoma with invasion
Intraductal papillary adenocarcinoma with invasion (morphologic abnormality)
Papillary adenocarcinoma of the fallopian tube
precursor T-lymphoblastic lymphoma/leukemia
precursor lymphoblastic lymphoma/leukemia
adult Precursor T Lymphoblastic Leukemia
T-cell acute lymphoblastic leukemia (disorder)
Medullary breast carcinoma with lymphoid Stroma
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).
malignant meningioma (morphologic abnormality)
meningioma, malignant (morphologic abnormality)
An eye and adnexa disease that is located_in the eye.
spinal canal intradural extramedullary neoplasm
epithelial dysplasia (morphologic abnormality)
A sarcoma and hematologic cancer that derives_from follicular lymphoma.
A bile duct carcinoma that derives_from squamous cells and gland-like cells.
An esophageal carcinoma that derives_from squamous cells and gland-like cells.
A thymic carcinoma that derives_from squamous cells and gland-like cells.
A gallbladder carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the gallbladder
ampulla of Vater adenosquamous carcinoma
An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells.
A colon carcinoma that derives_from squamous cells and gland-like cells.
primary Fusobacteriaceae infectious disease
Bartholin's gland adenosquamous carcinoma
A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells.
An endometrial carcinoma that derives_from squamous cells and gland-like cells.
meningioma of optic nerve sheath (disorder)
A prostate carcinoma that derives_from squamous cells and gland-like cells.
A cervical carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of cervix (disorder)
Adenosquamous cell carcinoma of the Cervix Uteri
A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells.
malignant giant cell tumor of soft parts
malignant Giant cell neoplasm of soft Parts
malignant giant cell tumor of soft parts (morphologic abnormality)
A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
Choroid plexus carcinoma (morphologic abnormality)
malignant neoplasm of the Choroid Plexus
malignant tumor of choroid plexus (disorder)
solid carcinoma NOS (morphologic abnormality)
Bilateral hypoactive labyrinth (disorder)
Hypoactive bilateral labyrinthine dysfunction (disorder)
A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation.
carcinoma, anaplastic (morphologic abnormality)
carcinoma, anaplastic type, NOS (morphologic abnormality)
Metaplastic carcinoma (morphologic abnormality)
A neuropathy that is located_in one of the twelve cranial nerves.
Lipid-rich carcinoma (morphologic abnormality)
A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule.
A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.
Nasopharyngeal type Undifferentiated carcinoma
A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.
Pleomorphic carcinoma (morphologic abnormality)
malignant tumor of external ear (disorder)
A carcinoma that is in situ (very early-stage breast cancer).
Comedocarcinoma (morphologic abnormality)
Comedocarcinoma NOS (morphologic abnormality)
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.
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.
primary malignant Extragonadal Nonseminoma
Retinal nerve fiber bundle deficiency (disorder)
An eye disease that is located_in the retina.
An embryonal carcinoma that is located_in the testis.
An embryonal carcinoma that is located_in the ovary.
An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families.
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.
Spondylar and nasal Alterations-Striated Metaphyses syndrome
An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is caused by mutations in the WRN gene, located_in chromosome 8.
Liposarcoma, well differentiated (morphologic abnormality)
Round cell liposarcoma (morphologic abnormality)
A liposarcoma and sarcoma of the larynx that is located_in the larynx.
Fibroblastic liposarcoma (morphologic abnormality)
A liposarcoma and sarcoma of kidney that is located_in the kidney.
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.
Pleomorphic liposarcoma (morphologic abnormality)
mixed liposarcoma (morphologic abnormality)
A liposarcoma and mediastinum sarcoma that is located_in the mediastinum.
Non-Functioning neoplasm of the Pituitary
Non-Secretory adenoma of the Pituitary gland
growth hormone producing pituitary tumor
An adrenal gland cancer that derives_from immature neuroblastic cells.
An adrenal gland cancer that is located_in the adrenal medulla.
mononeuritis of upper limb and mononeuritis multiplex
neuroblastomas of the adrenal gland and sympathetic nervous system
Neuroblastomas of Adrenal gland and Sympathetic nervous system
leiomyomatosis peritonealis disseminata (disorder)
A nervous system disease that affects the peripheral nervous system.
small intestinal vasoactive intestinal peptide producing tumor
pancreatic vasoactive intestinal peptide producing tumor
A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).
An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
Rheumatic disease of pulmonary valve (disorder)
Rheumatic pulmonary valve disease NOS (disorder)
A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.
Mesenchymoma, malignant (morphologic abnormality)
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.
Verruciform xanthoma (morphologic abnormality)
Mycobacterium avium-intracellulare lymphadenitis
Mycobacterium avium complex lymphadenitis
central nervous system hematologic cancer
A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
hematopoietic neoplasm of central nervous system
Oral submucosal fibrosis, including of tongue
atrophic flaccid tympanic membrane (disorder)
atrophic flaccid tympanic membrane NOS (disorder)
mixed epithelial and mesenchymal hepatoblastoma
hepatoblastoma with pure fetal epithelial differentiation
mixed hepatoblastoma with teratoid features
Uric acid nephropathy (disorder) [Ambiguous]
hepatoblastoma with combined fetal epithelial differentiation
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.
SCID due to absent class II HLA antigens (disorder)
purine nucleoside phosphorylase deficiency
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.
Purine-Nucleoside Phosphorylase deficiency
A cerebrum cancer that affects the lymph cells and derives_from the brain.
A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
methotrexate-associated lymphoproliferation
A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
uterine ligament endometrioid adenocarcinoma
OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
endometrioid carcinoma of the Cervix Uteri
fallopian tube endometrioid adenocarcinoma
endometrioid carcinoma of the fallopian tube
Spermatocytic seminoma (morphologic abnormality)
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Posterior myocardial infarction NOS (disorder)
calculus of kidney and ureter (disorder)
Inferior myocardial infarction NOS (disorder)
Lateral myocardial infarction NOS (disorder)
Myxoid chondrosarcoma (morphologic abnormality)
Juxtacortical chondrosarcoma (morphologic abnormality)
Clear cell chondrosarcoma (morphologic abnormality)
A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum.
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.
An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum.
malignant neoplasm of retroperitoneum and peritoneum
malignant neoplasm of retroperitoneum and peritoneum NOS (disorder)
malignant tumor of peritoneum and retroperitoneum
malignant tumor of peritoneum and retroperitoneum (disorder)
Well-differentiated Papillary tumor of Mesothelium
mixed embryonal carcinoma and teratoma with seminoma of the testis
mixed Embryonal carcinoma and teratoma with Seminoma of testis
Ependymoma, anaplastic (morphologic abnormality)
anaplastic ependymoma (morphologic abnormality)
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
localized unresectable adult primary liver cancer
localized Unresectable adult Liver carcinoma
localized unresectable adult primary hepatoma
malignant fibrous histiocytoma metastatic
recurrent extrahepatic bile duct carcinoma
extrahepatic bile duct small cell adenocarcinoma
Oat cell extrahepatic bile duct carcinoma
Autosomal Recessive Polycystic kidney disease
Polycystic kidney disease, infantile type (disorder)
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.
unresectable extrahepatic bile duct cancer
Unresectable extrahepatic bile duct carcinoma
localized extrahepatic bile duct carcinoma
Polycystic kidney disease, adult type (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.
malignant neoplasm of the peripheral nerve Sheath
malignant peripheral nerve sheath tumor (disorder)
malignant peripheral nerve sheath tumor (morphologic abnormality)
malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)
schistosoma hematobium-related bladder squamous cell carcinoma
renal pelvis transitional cell carcinoma
Urothelial cell carcinoma of renal Pelvis
Occlusion and stenosis of multiple and bilateral precerebral arteries
occlusion and stenosis of precerebral artery
human papilloma virus related vulvar squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva.
HPV-Related Vulvar squamous cell carcinoma
Undifferentiated Hemispheric astrocytoma
A kidney sarcoma that starts in the bones and that is located_in the kidney.
clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres
A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
meningioma of the Internal Auditory canal
early onset breast ovarian cancer syndrome
non-proliferative fibrocystic change of the breast
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.
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.
A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood.
malignant germ cell tumor of mediastinum
teratoma of the adult central nervous system
adult central nervous system mature teratoma
adult central nervous system immature teratoma
central nervous system immature teratoma
Selective immunoglobulin E deficiency (disorder)
selective immunoglobulin deficiency disease
Disseminated squamous cell carcinoma (morphologic abnormality)
juvenile type testicular granulosa cell tumor
Juvenile granulosa cell tumor (morphologic abnormality)
A heart sarcoma that is a soft tissue sarcoma located in the heart.
An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells.
A uveal cancer that has_material_basis_in uvea pigment cells.
A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid.
A spindle intraocular melanoma that is located_in the ciliary body.
spindle cell melanoma of the Ciliary body
A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms.
A specific phobia that is characterized by a fear of flying.
A gastrointestinal system disease that is located_in the esophagus.
central nervous system childhood germ cell tumor
Schneiderian papilloma of the Frontal sinus
Schneiderian papilloma of Accessory sinus
squamous papilloma of the nasal Vestibule
urinary tract non-invasive transitional cell neoplasm
secondary malignant neoplasm to the nervous system
drop secondary malignant neoplasm to the spinal cord
Drop metastatic tumor to the Spinal Cord
secondary malignant neoplasm of spinal cord (disorder)
childhood testicular endodermal sinus neoplasm
childhood ovarian endodermal sinus tumor
childhood ovarian endodermal sinus neoplasm
An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.
ampulla of vater intestinal type adenocarcinoma
malignant neoplasm of thalamus (disorder)
Rheumatic disease of mitral valve (disorder)
chronic rheumatic mitral valve (disorder)
signet ring cell variant cervical mucinous adenocarcinoma
A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus.
thoracic spinal canal and spinal cord meningioma
meningioma of the Thoracic Spinal canal and Spinal Cord
mixed embryonal carcinoma and teratoma of the mediastinum
malignant teratoma of mediastinum (disorder)
mediastinal mixed non-seminomatous germ cell tumor
mixed Non-Seminomatous germ cell tumor of mediastinum
hepatic and intrahepatic bile duct non-epithelial neoplasm
Cerebral Hemispheric Convexity meningioma
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.
An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS.
An anal canal cancer that derives_from epithelial cells.
Gliomatosis cerebri (morphologic abnormality)
T-lymphocyte immunodeficiency (disorder)
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.
uterine corpus epithelioid leiomyosarcoma
A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
carcinoma in situ of nasal cavity (disorder)
A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact.
childhood testicular mixed germ cell tumor
pediatric testicular mixed germ cell tumor
An embryonal testis carcinoma that occurs in children.
childhood embryonal carcinoma of the testis
pediatric testicular Embryonal carcinoma
A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses.
ovarian malignant mesodermal (mullerian) mixed tumor
A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
sporadic conventional renal cell carcinoma
metastatic ovarian small cell carcinoma with hypercalcemia
A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting.
squamous cell carcinoma of unknown primary
A sarcoma of the rectum that results_in lesions that are located_in the rectum.
epithelioid sarcoma (morphologic abnormality)
A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
conventional malignant hemangiopericytoma
recurrent malignant pericardial mesothelioma
Follicular adenoma (morphologic abnormality)
malignant mediastinum hemangiopericytoma
A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.
malignant hemangiopericytoma of mediastinum
simian acquired immunodeficiency syndrome
A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells.
bladder diffuse clear cell adenocarcinoma
mixed epithelial tumor of ovary (disorder)
An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.
Ovarian serous tumor (morphologic abnormality)
Ovarian papillary tumor (morphologic abnormality)
carcinoma, diffuse type (morphologic abnormality)
A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound.
Articular cartilage disorder involving ankle and foot
Articular cartilage disorder involving forearm
Articular cartilage disorder involving hand
Articular cartilage disorder involving multiple sites
Articular cartilage disorder involving pelvic region and thigh
Articular cartilage disorder involving shoulder region
Articular cartilage disorder involving upper arm
Articular cartilage disorder of ankle and/or foot (disorder)
Articular cartilage disorder of forearm (disorder)
Articular cartilage disorder of hand (disorder)
Articular cartilage disorder of multiple sites
Articular cartilage disorder of multiple sites (disorder)
Articular cartilage disorder of shoulder region
Articular cartilage disorder of shoulder region (disorder)
Articular cartilage disorder of the ankle and foot (disorder)
Articular cartilage disorder of the forearm (disorder)
Articular cartilage disorder of the hand (disorder)
Articular cartilage disorder of the pelvic region and thigh
Articular cartilage disorder of the pelvic region and thigh (disorder)
Articular cartilage disorder of the shoulder region (disorder)
Articular cartilage disorder of the upper arm (disorder)
Articular cartilage disorder of upper arm
Articular cartilage disorder of upper arm (disorder)
articular cartilage disorder of ankle and/or foot
peritoneal serous papillary adenocarcinoma
primary serous papillary carcinoma of peritoneum
non-invasive bladder papillary urothelial neoplasm
Papillary urothelial neoplasm of low malignant potential
bladder papillary neoplasm of low malignant potential
transient hypogammaglobulinemia of infancy
Transient hypogammaglobulinemia of infancy (disorder)
transitional cell intraepithelial neoplasm
An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects.
growth hormone secreting pituitary adenoma
Growth Hormone Producing adenoma of the Pituitary
growth hormone secreting adenoma of pituitary
malignant growth hormone secreting neoplasm of pituitary
A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
Complement deficiency disease (disorder)
A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
Inflammatory carcinoma of breast (disorder)
A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
Severe combined immunodeficiency disease (disorder)
combined T and B cell inborn immunodeficiency
malignant thyroid stimulating hormone producing neoplasm of pituitary gland
malignant ACTH producing neoplasm of pituitary gland
malignant Corticotropinoma of the Pituitary
combined T cell and B cell immunodeficiency
A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.
childhood cerebellar astrocytic neoplasm
recurrent pediatric cerebellar astrocytoma
relapsed pediatric astrocytoma of Cerebellum
A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing.
A disease that has_material_basis_in genetic variations in the human genome.
metastatic transitional cell cancer of the renal pelvis and ureter
metastatic Urothelial carcinoma of the renal Pelvis and Ureter
A chordoma of skull base that is located in the clivus.
A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
An adamantinoma of long bone that is located_in the tibia.
ovarian dermoid cyst with adenocarcinoma
ovarian dermoid cyst with secondary carcinoma
ovarian dermoid cyst with secondary tumor
A myopathy characterized by muscle inflammation.
Inflammatory disorder of muscle (disorder)
adult intracranial malignant hemangiopericytoma
adult malignant intracranial hemangiopericytoma
Cerebellopontine angle meningioma (disorder)
meningioma of the Cerebellar Pontine Angle
testicular tumor of the thecoma fibroma group
malignant melanocytic neoplasm of the peripheral nerve sheath
Melanotic malignant nerve sheath tumor (disorder)
Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)
Melanotic malignant peripheral nerve sheath tumour
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
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.
chronic lymphocytic leukemia/small lymphocytic lymphoma
chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)
renal cell carcinoma with constitutional chromosome 3 translocations
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
acral lentiginous melanoma, malignant (morphologic abnormality)
Diffuse melanocytosis (morphologic abnormality)
demyelinating disease of central nervous system
meningioma of the Anterior Foramen Magnum
recurrent childhood glioma of brain stem
recurrent childhood central nervous system tumor
recurrent 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.
acute disseminated encephalomyelitis (disorder)
Metanephric adenoma (morphologic abnormality)
Double outlet right ventricle (disorder)
Double outlet right ventricle NOS (disorder)
Double outlet right ventricle with subpulmonary ventricular septal defect
Double outlet right ventricle, unspecified (disorder)
serous Surface Papillary carcinoma of Ovary
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
childhood central nervous system mature teratoma
pediatric teratoma of central nervous system
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.
A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
malignant melanoma of choroid (disorder)
ovarian endometrioid malignant adenofibroma
Ceruminous adenocarcinoma (morphologic abnormality)
An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
An encephalitis that involves inflammation of the brain caused by viral infection.
Arbovirus encephalitis (disorder) [Ambiguous]
Arthropod-borne viral encephalitis, vector unknown
Arthropod-borne viral encephalitis, vector unknown (disorder)
Encephalitis in viral disease NOS (disorder)
Unspecified viral encephalitis (disorder)
A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.
clear cell variant infiltrating bladder urothelial carcinoma
invasive bladder transitional cell carcinoma
signet ring cell adenocarcinoma of bladder
urinary bladder Signet Ring adenocarcinoma
Periosteal osteosarcoma (morphologic abnormality)
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.
An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa.
An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.
extraskeletal myxoid chondrosarcoma (disorder)
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
disorder of connective tissue (disorder)
testicular Seminoma with High Mitotic Index
Occult squamous cell carcinoma of the lung
glandular pattern ovarian yolk sac tumor
polyvesicular vitelline pattern ovarian yolk sac tumor
Congenital malformation and deformation of the musculoskeletal system (disorder)
Congenital malformations and deformations of the musculoskeletal system (disorder)
Congenital musculoskeletal anomalies NOS
Congenital musculoskeletal anomalies NOS (disorder)
Congenital musculoskeletal deformity NOS (disorder)
malignant melanoma of ciliary body (disorder)
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
inborn errors of purine-pyrimidine metabolism
A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
Atypical meningioma (morphologic abnormality)
Angiomatous meningioma (morphologic abnormality)
schistosoma hematobium-related bladder verrucous squamous cell carcinoma
A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
meningioma of the Posterior Foramen Magnum
ovarian clear cell malignant adenofibroma
Schneiderian papilloma of the ethmoid sinus
An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
medium/large size posterior uveal melanoma
A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
acinar cell adenoma (morphologic abnormality)
non-invasive bladder urothelial carcinoma
Borderline malignancy papillary mucinous cystadenoma
Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality)
Papillary mucinous neoplasm of Low malignant Potential
ovarian dermoid cyst with sebaceous adenoma
ovarian dermoid cyst with secondary sebaceous tumor
A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.
recurrent malignant peritoneal mesothelioma
relapsed malignant Mesothelioma of Peritoneum
Spondylogenic compression of cervical spinal cord
Thoracic spondylosis without myelopathy (disorder)
cervical spondylosis with myelopathy (disorder)
cervical spondylosis without myelopathy (disorder)
classic variant of chromophobe renal cell carcinoma
eosinophilic variant of chromophobe renal cell carcinoma
basaloid squamous cell carcinoma of the head and neck
Basaloid squamous cell carcinoma of head and neck
Congenital leukocyte adherence deficiency (disorder)
hyperimmunoglobulin M syndrome (disorder)
A breast carcinoma that is located_in the nipple.
ovarian dermoid cyst with secondary sarcoma
ovarian dermoid cyst with leiomyosarcoma
adult central nervous system choriocarcinoma
Choriocarcinoma of the adult central nervous system
Choriocarcinoma of the pediatric central nervous system
diffuse idiopathic skeletal hyperostosis
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
Disseminated idiopathic skeletal hyperostosis (disorder)
childhood central nervous system immature teratoma
breast large cell neuroendocrine carcinoma
pulmonary large cell neuroendocrine carcinoma
cervical large cell neuroendocrine carcinoma
A syndrome characterized by a combination of obesity, retarded development of the sex glands, and changes in secondary sex characteristics that results from impaired function or disease of the pituitary gland and hypothalamus.
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.
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.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)
A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
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.
A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
Paroxysmal hematoma of the finger (disorder)
A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
ALPS (autoimmune lymphoproliferative syndrome)
Fat adherence syndrome of extraocular muscle (disorder)
A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
Cholestasis-edema syndrome, Norwegian type (disorder)
A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.
synchronous multifocal osteogenic sarcoma
asynchronous multifocal osteogenic sarcoma
A substance abuse that involves the recurring use of amphetamines despite negative consequences.
carcinoma of fundus of stomach (disorder)
MPNST with rhabdomyoblastic differentiation
malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
Anterior spinal artery occlusion syndrome (disorder)
An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Circumscribed storiform collagenoma (disorder)
Collagen hamartoma (morphologic abnormality)
A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
recurrent pediatric optic nerve astrocytoma
recurrent childhood optic tract astrocytoma
recurrent pediatric visual pathway astrocytoma
recurrent glioma of childhood visual pathway
relapsed glioma of the pediatric visual pathway
Cystadenoma of the Intrahepatic bile duct
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.
small cell carcinoma of the Cervix Uteri
A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
malignant fibrous histiocytoma recurrent
A thoracic cancer that is located_in the chest wall.
malignant neoplasm of chest wall NOS (disorder)
A bone cancer and lymphoma by site that results_in lymphoma starting in the 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.
Pauciarticular onset juvenile chronic arthritis
monarticular juvenile rheumatoid arthritis
villoglandular endometrial endometrioid adenocarcinoma
renal pelvis and ureter localized transitional cell cancer
localized Urothelial carcinoma of the renal Pelvis and Ureter
A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
progressive supranuclear ophthalmoplegia
pediatric desmoplastic small round cell tumor
desmoplastic small round cell tumor (morphologic abnormality)
childhood vagina botryoid rhabdomyosarcoma
vulvar childhood botryoid-type embryonal rhabdomyosarcoma
childhood sarcoma Botryoides of the Vulva
mixed endodermal sinus neoplasm and teratoma with seminoma of the testis
mixed Yolk Sac tumor and teratoma with Seminoma of testis
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient.
relapsed precursor T lymphoblastic lymphoma/leukemia
recurrent adult acute lymphocytic leukemia
A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes.
A sarcoma of colon that is located_in the colon.
anaplastic childhood astrocytoma of brain
grade III pediatric astrocytoma of the brain
Pancreatoblastoma (morphologic abnormality)
pancreatic solid pseudopapillary carcinoma
A pancreatic carcinoma that is characterized by its papillary architecture.
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
kidney pelvis sarcomatoid transitional cell carcinoma
sarcomatoid transitional cell carcinoma of renal Pelvis
infiltrating ureter transitional cell carcinoma
testicular intratubular germ cell neoplasia of the unclassified type
A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation.
Porokeratotic Eccrine duct and Hair Follicle nevus
Porokeratotic eccrine ostial and dermal duct nevus (disorder)
Eccrine angiomatous hamartoma (disorder)
primary Ectopic meningioma of ethmoidal sinus
A liver cancer that has_material_basis_in epithelial cells.
Liver and Intrahepatic bile duct carcinoma
oxyphilic endometrial endometrioid adenocarcinoma
spinal cord primitive neuroectodermal neoplasm
Fibroepithelial polyp (morphologic abnormality)
A germ cell cancer that is associated with an embryo.
A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
transitional cell carcinoma of ureter (disorder)
AIDS Related carcinoma of the uterine Cervix
A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS.
Autoimmune deficiency syndrome-Related Kaposi sarcoma
HIV disease resulting in Kaposi's sarcoma (disorder)
Malposition and malpresentation of fetus
malignant ovarian mixed epithelial neoplasm
A lymphoma by site that is manifested in immune system cells called lymphocytes.
A herpes zoster that is complicated_by AIDS.
Extramucosal (Perianal) adenocarcinoma of anus
adenocarcinoma of anus within Anorectal fistula
adenocarcinoma of the anus within Anorectal fistula
extramucosal (perianal) adenocarcinoma of the anus
fibrolipomatous hamartoma of peripheral nerve
papillary extrahepatic bile duct adenocarcinoma
Urothelial papilloma (morphologic abnormality)
An intraocular retinoblastoma that effects children.
Inverted follicular keratosis (disorder)
An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress.
Telangiectatic osteosarcoma (morphologic abnormality)
An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects.
malignant intracranial neoplasm By Morphology
Bartholin's gland squamous cell carcinoma
acute and unspecified inflammation of lacrimal passages
acute and unspecified inflammation of lacrimal passages (disorder)
acute inflammation of lacrimal passages (disorder)
urothelial papillary carcinoma of the bladder
micropapillary variant infiltrating bladder urothelial carcinoma
Excessive vasoactive intestinal peptide secretion [Ambiguous]
non-neoplastic non-molar trophoblastic disorder
A myopathy that is characterized by mitochondrial dysfunction.
Exaggerated placental site (morphologic abnormality)
secondary malignant neoplasm of kidney (disorder)
intermediate cell type ciliary body melanoma
recurrent squamous cell carcinoma of lung
recurrent squamous cell carcinoma of the lung
A disease that manifests in a defined anatomical structure.
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
relapsed large cell carcinoma of the lung
malignant vaginal mixed tumor resembling synovial sarcoma
A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
Gemistocytic astrocytoma (morphologic abnormality)
Protoplasmic astrocytoma (morphologic abnormality)
A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
Intramuscular lipoma (morphologic abnormality)
secondary malignant neoplasm to the adult brain
borderline ovarian serous neoplasm with microinvasion
mucinous intrahepatic cholangiocarcinoma
anaplastic malignant intracranial meningioma
site specific early onset breast cancer syndrome
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.
Infection by Anisakis larva (disorder) [Ambiguous]
Borst-Jadassohn intraepidermal carcinoma
Intraepidermal epithelioma of Jadassohn (disorder)
Intraepidermal epithelioma of Jadassohn (morphologic abnormality)
cervical basaloid squamous cell carcinoma
squamous cell carcinoma of penis, Basaloid type
esophageal basaloid squamous cell carcinoma
Basaloid squamous carcinoma of esophagus
Undifferentiated small cell carcinoma of the Thyroid gland
precursor B lymphoblastic lymphoma/leukemia
A non-Hodgkin lymphoma that has_material_basis_in B cells.
Choroidal hemorrhage and rupture (disorder)
Choroidal hemorrhage or rupture NOS (disorder)
malignant melanocytic peripheral nerve sheath tumor of mediastinum
malignant mediastinal peripheral nerve sheath tumor
lung mixed small cell and squamous cell carcinoma
combined small and large cell lung cancer
mixed small cell and squamous cell carcinoma of lung
small cell and large cell carcinoma of the lung
small cell and squamous cell carcinoma of the lung
multicentric papillary thyroid carcinoma
columnar cell variant papillary carcinoma
splenic manifestation of hairy cell leukemia
macrocystic pattern testicular yolk sac tumor
ovarian dermoid cyst with squamous cell carcinoma
A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.
A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment.
urinary bladder small cell neuroendocrine carcinoma
small cell neuroendocrine carcinoma of the urinary bladder
small cell/neuroendocrine carcinoma of urinary bladder
small cell carcinoma of prostate (disorder)
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.
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.
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.
Oligodendroglioma, anaplastic (morphologic abnormality)
adult undifferentiated oligodendroglioma
Undifferentiated pediatric Oligodendroglioma
metastatic squamous neck cancer with occult primary
squamous cell carcinoma metastatic to the neck with Occult primary
recurrent metastatic squamous cell cancer to the neck with occult primary
relapsed metastatic Epidermoid carcinoma to the neck with Occult primary
Human T-lymphotropic virus 2 infectious disease
A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis.
Updating to more specific UMLS_CUI from C0029495 to C0040147.
Cloacogenic carcinoma (morphologic abnormality)
An anal canal cancer that derives_from epithelial squamous cells.
mixed acidophil-basophil adenoma (morphologic abnormality)
An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies.
Autoimmune hemolytic anemia NOS (disorder)
metastatic childhood sarcoma of soft tissue
metastatic pediatric sarcoma of the soft tissue
Subacute lymphocytic thyroiditis (disorder)
An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
hereditary conventional renal cell carcinoma
maxillary sinus adenoid cystic carcinoma
adenoid cystic carcinoma of maxillary sinus
adenoid cystic carcinoma of the maxillary sinus
malignant teratoma, intermediate (morphologic abnormality)
lung combined large cell neuroendocrine carcinoma
combined large cell neuroendocrine carcinoma of lung
pulmonary Combined large cell neuroendocrine carcinoma
Psammomatous meningioma (morphologic abnormality)
fibrous meningioma (morphologic abnormality)
meningothelial meningioma (morphologic abnormality)
transitional meningioma (morphologic abnormality)
gallbladder pleomorphic giant cell adenocarcinoma
Pleomorphic Giant cell adenocarcinoma of the gallbladder
malignant neoplasm of spinal meninges (disorder)
malignant neoplasm of spinal meninges NOS (disorder)
postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
central nervous system embryonal carcinoma
embryonal carcinoma of the central nervous system
adult central nervous system embryonal carcinoma
Embryonal carcinoma of the adult central nervous system
pancreatic invasive mucinous cystadenocarcinoma
pancreatic non-invasive mucinous cystadenocarcinoma
AIDS-Related Kaposi's sarcoma of stomach
An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach.
female urinary stress incontinence (finding)
lymphoepithelioma-like acinar prostate adenocarcinoma
lymphoepithelioma-like variant acinar prostate adenocarcinoma
malignant neoplasm of cerebral meninges (disorder)
malignant neoplasm of cerebral meninges NOS (disorder)
Undifferentiated carcinoma of the urethra
Selective immunoglobulin D deficiency (disorder)
solid carcinoma of lung with mucus formation
pulmonary solid adenocarcinoma with Mucin
secretory uterine corpus endometrioid adenocarcinoma
mucin-rich endometrial endometrioid adenocarcinoma
relapsed pediatric sarcoma of the soft tissue
nonmetastatic childhood soft tissue sarcoma
Non-metastatic pediatric soft tissue sarcoma
leiomyosarcoma of the Inferior Vena Cava
endodermal sinus pattern testicular yolk sac tumor
breast carcinoma metastatic to the brain
anaplastic oligoastrocytoma (morphologic abnormality)
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
A urinary system disease that is located_in the urethra.
urethral disorder, unspecified (disorder)
primary cerebral lymphoma in immunocompetent host
hepatitis C virus related hepatocellular carcinoma
hepatitis B virus related hepatocellular carcinoma
Pseudosarcomatous fibromatosis (disorder)
A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss.
Nephrogenic adenoma of the urinary bladder
An urinary tract cancer that derives_from the tissues of the urethra.
A dysgerminoma of ovary that occurs in children.
Undifferentiated astrocytoma of Diencephalon
teratoma of CNS with malignant transformation
teratoma of the central nervous system with malignant Transformation
vulvar keratinizing squamous cell carcinoma
A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
squamous cell papilloma of skin (disorder)
localized resectable adult primary hepatoma
localized resectable adult primary liver cancer
localized Resectable adult Liver carcinoma
secondary malignant neoplasm of urethra (disorder)
leiomyosarcoma of the Superior Vena Cava
cerebral primitive neuroectodermal tumor
An immune system disease that has_material_basis_in hematopoietic cells.
DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
Microcephaly, normal intelligence and immunodeficiency (disorder)
colonic L-cell glucagon-like peptide producing tumor
L-cell glucagon-like peptide producing tumor
metastatic carcinoma to the uterine cervix
vulvar non-keratinizing squamous cell carcinoma
vulvar squamous cell carcinoma with tumor giant cells
ovarian mucinous cystic tumor with mural nodules
An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center.
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.
An urticaria induced by stroking of the skin.
germ cell neoplasm of the pediatric brain
polyvesicular vitelline pattern testicular yolk sac tumor
sarcomatoid uterine corpus endometrioid adenocarcinoma
uterus perivascular epithelioid cell tumor
monoclonal gammopathy of uncertain significance
Monoclonal gammopathy of uncertain significance (disorder)
Monoclonal gammopathy of undetermined significance (morphologic abnormality)
benign Epididymal epithelial Mesothelioma
A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.
Oxyuris vermicularis infection (disorder)
acantholytic variant squamous cell breast carcinoma
adenomatoid tumor (morphologic abnormality)
adenomatoid tumor NOS (morphologic abnormality)
benign localized epithelial Mesothelioma
spindle cell variant squamous cell breast carcinoma
large cell keratinizing variant squamous cell breast carcinoma
NK-cell large granular Lymphocyte Lymphocytosis
Balloon cell nevus (morphologic abnormality)
recurrent malignant pleural mesothelioma
A pleural cancer that has_material_basis_in mesothelium cells.
An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
Diverticulitis (morphologic abnormality)
duodenal delta cell somatostatin producing tumor
large cell carcinoma with rhabdoid phenotype
large cell carcinoma with rhabdoid phenotype (morphologic abnormality)
large cell lung carcinoma with Rhabdoid Phenotype
cervical keratinizing squamous cell carcinoma
A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
juvenile osteochondrosis of tibial tubercle
vulvar proximal-type epithelioid sarcoma
AIDS-related Human papillomavirus infectious disease
A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS.
An immune system disease that is located_in the lymphatic system.
disorder of lymph node and lymphatics (disorder)
acute peptic ulcer with hemorrhage and perforation
acute peptic ulcer without hemorrhage AND without perforation (disorder)
acute peptic ulcer without hemorrhage and without perforation
pediatric Supratentorial Ependymoblastoma
extrahepatic bile duct papillary adenoma
Papillary adenoma of the extrahepatic bile duct
mixed embryonal carcinoma and endodermal sinus neoplasm of the testis
testicular mixed Embryonal carcinoma and Yolk Sac tumor
small intestinal L-cell glucagon-like peptide producing tumor
Intraductal papillomatosis of the breast
lumbar spinal canal and spinal cord meningioma
meningioma of Lumbar Spinal canal and Spinal Cord
childhood central nervous system mixed germ cell tumor
central nervous system mixed germ cell tumor
Peptic ulcer with perforation (disorder)
Unspecified peptic ulcer with perforation (disorder)
pediatric infratentorial ependymoblastoma
acute gonococcal endometritis (disorder)
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.
cystic hypersecretory carcinoma of the breast
cystic hypersecretory duct carcinoma of the breast
Lactating adenoma (morphologic abnormality)
An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles.
Tuberculosis of bladder, unspecified examination
mixed epithelial/mesenchymal metaplastic breast carcinoma
osteosarcoma arising in bone Paget's disease
Osteosarcoma Arising in osseous Paget's disease
osteosarcoma arising in bone Paget disease
recurrent squamous cell carcinoma of the esophagus
recurrent squamous cell carcinoma of esophagus
Ceruminous adenoma (morphologic abnormality)
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.
chronic gonococcal infectious disease of lower genitourinary tract
chronic gonococcal infectious disease of upper genitourinary tract
infiltrating bladder urothelial carcinoma sarcomatoid variant
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements
Paget's disease and intraductal carcinoma of breast
Paget's disease and intraductal carcinoma of breast (morphologic abnormality)
Paget's disease of the breast with Intraductal carcinoma
A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration.
Human immunodefiency virus leukoencephalopathy (disorder)
Eccrine porocarcinoma of skin (disorder)
thyrotoxicosis with toxic single thyroid nodule
pancreatic intraductal papillary-colloid carcinoma
Intraductal Papillary-mucinous carcinoma of pancreas
pancreatic intraductal papillary-mucinous neoplasm
Infiltrating carcinoma of breast with Fibrotic Stroma
Scirrhous carcinoma of breast (disorder)
Complete transposition (morphologic abnormality)
Severe major depression with psychotic features (disorder)
Epidermoid carcinoma of the Supraglottis
mixed endodermal sinus neoplasm and teratoma of the testis
mixed Yolk Sac tumor and teratoma of testis
ovarian dermoid cyst with melanocytic nevus
ovarian dermoid cyst with secondary melanocytic lesion
cervical lymphoepithelioma-like carcinoma
Lymphoepithelioma-like carcinoma of the Thymus
A gastrointestinal system disease that is located_in the stomach.
infiltrating bladder lymphoepithelioma-like carcinoma
Advanced malignant Mesothelioma of Pleura
Intracortical osteosarcoma (morphologic abnormality)
Fibroblastic osteosarcoma (morphologic abnormality)
parathyroid transitional clear cell adenoma
mixed cell type adenoma of the Parathyroid gland
Meningeal sarcomatosis (morphologic abnormality)
A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
sarcomatosis NOS (morphologic abnormality)
Bacterial endocarditis (& [acute] or [subacute])
Bacterial endocarditis (disorder) [Ambiguous]
acute and subacute bacterial endocarditis
acute and subacute bacterial endocarditis (disorder)
acute and subacute bacterial endocarditis NOS (disorder)
Meningococcal carditis unspecified (disorder)
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.
relapsed carcinoma of the small Intestine
Paget's disease and invasive ductal carcinoma of breast
Paget's disease of breast with Infiltrating ductal carcinoma
non-resectable small intestine carcinoma
acantholytic squamous cell skin carcinoma
Acantholytic squamous cell carcinoma of skin (disorder)
acantholytic squamous cell carcinoma of skin
multiple spinal canal and spinal cord meningioma
Multiple meningiomas of the Spinal canal and Spinal Cord
pulmonary type ovarian small cell carcinoma
hypercalcemic type ovarian small cell carcinoma
Inverted papilloma of the Sphenoid sinus
Schneiderian papilloma of the Sphenoid sinus
A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
mixed choriocarcinoma and teratoma of the testis
mixed Choriocarcinoma and teratoma of testis
pancreatic non-invasive intraductal papillary-mucinous carcinoma
An autonomic nervous system neoplasm that derives_from immature nerve cells.
An aortic aneurysm that is located_in the abdominal aorta.
primary malignant neoplasm of hilus of lung (disorder)
pancreatic Adrenocorticotropic Hormone Producing tumor
non-functioning pancreatic endocrine tumor
A disease of anatomical entity that is located_in the gastrointestinal tract.
An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients.
human papilloma virus related endocervical adenocarcinoma
A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis.
Signet Ring cell adenocarcinoma of rectum
A malignant neoplasm that derives_from the retina.
An adult sarcoma of soft tissue that derives_form the soft tissues of the body.
relapsed adult sarcoma of the soft tissue
osteoclast-like giant cell neoplasm of the pancreas
Osteoclast-like Giant cell neoplasm of pancreas
Generalized convulsive epilepsy, with intractable epilepsy
epilepsy with generalized tonic-clonic seizures
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
acinar cell cystadenocarcinoma (morphologic abnormality)
pancreatic acinar cell cystadenocarcinoma
secondary malignant neoplasm of eye (disorder)
signet ring cell intrahepatic cholangiocarcinoma
human papilloma virus related penile squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis.
HPV-Related Penile squamous cell carcinoma
An extraocular retinoblastoma that effects children.
childhood multilocular cystic kidney neoplasm
A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN).
pediatric Multilocular cystic renal tumor
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.
mixed choriocarcinoma and embryonal carcinoma of the testis
mixed Choriocarcinoma and Embryonal carcinoma of testis
A uterine Corpus sarcoma that has recurred after it has been treated.
transitional cell carcinoma of the ureter with glandular differentiation
ureteral transitional cell carcinoma with glandular differentiation
A uterine disease that is located_in the placenta.
nonmetastatic extraskeletal osteosarcoma
Non-metastatic extraskeletal Osteogenic sarcoma
adult spinal cord glioblastoma multiforme
Glioblastoma multiforme of spinal cord (disorder)
Undifferentiated Giant cell carcinoma of the Thyroid gland
AIDS-related Cytomegalovirus enterocolitis
An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients.
An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea.
A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss.
mixed astrocytoma-ependymoma-oligodendroglioma
Multifocal Clear cell meningioma of Spine
An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.
cervical papillary squamous cell carcinoma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix.
human papilloma virus related cervical squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix.
HPV-Related cervical squamous cell carcinoma
human papilloma virus related cervical carcinoma
mixed acinar-endocrine carcinoma (morphologic abnormality)
infiltrating nipple syringomatous adenoma
chronic renal failure syndrome (disorder)
pancreatic non-functioning delta cell tumor
A breast carcinoma that is manifested in the female breast.
A histiocytic and dendritic cell cancer that effect dendritic cells.
A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)
pancreatic intraductal papillary-mucinous adenoma
germinoma of the adult central nervous system
Inverted papilloma of the maxillary sinus
uterine corpus atypical polypoid adenomyoma
hypotony of eye associated with another ocular disorder
testicular spermatocytic seminoma with sarcoma
A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
Decreased intraocular pressure (finding)
Disorganized schizophrenia in remission (disorder)
Disorganized type schizophrenia, in remission
Epidermoid carcinoma of the Maxillofacial sinus
cervical spinal canal and spinal cord meningioma
meningioma of the cervical Spinal canal and Spinal Cord
nonmetastatic extra-osseous ewing's sarcoma
Non-metastatic extraskeletal Ewing's sarcoma
central nervous system benign soft tissue neoplasm
benign mediastinal psammomatous neurilemmoma
benign Psammomatous Schwannoma of mediastinum
glandular-alveolar pattern testicular yolk sac tumor
old burn scar-related squamous cell carcinoma of skin
Old Burn Scar-Related squamous cell carcinoma of the skin
childhood precursor T-lymphoblastic lymphoma/leukemia
precursor T-lymphoblastic lymphoma/leukemia refractory
Residual schizophrenia in remission (disorder)
adenocarcinoma Arising in Barrett's Mucosa
adult central nervous system mixed germ cell tumor
stroma-dominant and stroma-poor composite ganglioneuroblastoma
Residual schizophrenia, unspecified state
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
A nipple carcinoma that is located_in the nipple duct.
EBV-related posttransplantation lymphoproliferative disease
An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4.
Epstein-Barr virus related posttransplantation lymphoproliferative disorder
sarcomatoid penile squamous cell carcinoma
malignant eccrine spiradenoma (morphologic abnormality)
cervical non-keratinizing squamous cell carcinoma
lipid-cell variant infiltrating bladder urothelial carcinoma
plasmacytoid variant infiltrating bladder urothelial carcinoma
nested variant infiltrating bladder urothelial carcinoma
microcystic variant infiltrating bladder urothelial carcinoma
lymphoma-like variant infiltrating bladder urothelial carcinoma
helicobacter pylori-related gastric adenocarcinoma
malignant Eccrine Spiradenoma of the breast
A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
A thyroid gland disease that is characterized by excess thyroid hormone.
A thyroid gland disease that involves an over production of thyroid hormone.
Alveolar adenoma (morphologic abnormality)
ovarian dermoid cyst with prolactin secreting adenoma
ovarian dermoid cyst with secondary pituitary-type tumor
Superior pulmonary sulcus syndrome (disorder) [Ambiguous]
Haemarthrosis of the pelvic region and thigh
Hemarthrosis involving pelvic region and thigh
Hemarthrosis of ankle and/or foot (disorder)
Hemarthrosis of shoulder region (disorder)
Hemarthrosis of the ankle and/or foot (disorder)
Hemarthrosis of the lower leg (disorder)
Hemarthrosis of the pelvic region and thigh
Hemarthrosis of the pelvic region and thigh (disorder)
Hemarthrosis of the shoulder region (disorder)
Hemarthrosis of the upper arm (disorder)
squamous carcinoma of penis, Papillary type
ovarian dermoid cyst with corticotropin secreting adenoma
anaplastic ganglioglioma (morphologic abnormality)
ganglioglioma, anaplastic (morphologic abnormality)
renal pelvis and ureter regional transitional cell cancer
regional Urothelial carcinoma of the renal Pelvis and Ureter
renal pelvis and ureter recurrent transitional cell cancer
recurrent Urothelial carcinoma of the renal Pelvis and Ureter
Parafollicular cell carcinoma with Amyloid Stroma
A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
Signet Ring cell adenocarcinoma of the stomach
intestinal adenocarcinoma of the stomach
An ovarian embryonal carcinoma that occurs in childhood.
childhood embryonal carcinoma of the ovary
bladder tubulo-cystic clear cell adenocarcinoma
bladder papillary clear cell adenocarcinoma
A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body.
Occlusion and stenosis of carotid artery
sarcomatous intrahepatic cholangiocarcinoma
childhood central nervous system germinoma
ovarian mucinous cystic tumor associated with pseudomyxoma peritonei
myxomatous pattern testicular yolk sac tumor
cellular congenital mesoblastic nephroma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation.
ovarian dermoid cyst with sebaceous carcinoma
Advanced adult primary Hepatocellular carcinoma
A substance abuse that involves the recurring use of cocaine despite negative consequences.
Schneiderian papilloma of the maxillary sinus
cervical condylomatous squamous cell carcinoma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix.
A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs.
Microfollicular adenoma (morphologic abnormality)
Cystadenoma of the extrahepatic bile duct
cellular phase chronic idiopathic myelofibrosis
recurrent childhood cerebral astrocytoma
adenocarcinoma in villous adenoma (morphologic abnormality)
villous adenoma or adenocarcinoma NOS (morphologic abnormality)
villous adenomas and adenocarcinomas (morphologic abnormality)
metastatic extra-osseous Ewing's sarcoma
metastatic extraskeletal Ewing's sarcoma
pseudovascular skin squamous cell carcinoma
(Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS)
An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
Osteochondrosis not specified as adult or juvenile, of unspecified site
An arthritis that involves infection by a pathogen located_in joint.
sclerosing mucoepidermoid thyroid carcinoma with eosinophilia
malignant neoplasm of anterior aspect of epiglottis
malignant neoplasm of anterior epiglottis (disorder)
malignant neoplasm of anterior epiglottis NOS (disorder)
malignant neoplasm of anterior surface of epiglottis
malignant neoplasm of epiglottis NOS (disorder)
transitional cell carcinoma of the ureter with mixed differentiation
ureteral transitional cell carcinoma with mixed differentiation
pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
secondary malignant neoplasm of gallbladder (disorder)
anaplastic secondary supratentorial astrocytic neoplasm
Undifferentiated secondary Supratentorial astrocytoma
recurrent childhood malignant germ cell tumor
recurrent childhood malignant germ cell neoplasm
pancreatic invasive intraductal papillary-mucinous carcinoma
appendiceal L-cell glucagon-like peptide producing tumor
malignant appendiceal L-cell glucagon-like peptide producing tumor
distal 1/3 of common bile duct adenocarcinoma
adenocarcinoma of the Distal 1/3 of the Common bile duct
adult desmoplastic small round cell tumor
A desmoplastic small round-cell tumor that primarily is located_in the abdomen.
fallopian tube gestational choriocarcinoma
Gestational Choriocarcinoma of the fallopian tube
gestational uterine corpus choriocarcinoma
papillary pattern testicular yolk sac tumor
recurrent pediatric Hepatocellular carcinoma
hepatoid pattern testicular yolk sac tumor
Syphilis of synovium, tendon or bursa (disorder)
Syphilis of synovium, tendon or bursa NOS (disorder)
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
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.
sacral spinal canal and spinal cord meningioma
meningioma of the Sacral Spinal canal and Spinal Cord
metastatic extraskeletal Osteogenic sarcoma
metastatic small intestinal adenocarcinoma
Meningeal melanomatosis (morphologic abnormality)
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.
transitional cell carcinoma of the ureter with squamous differentiation
ureteral transitional cell carcinoma with squamous differentiation
adenocarcinoma in adenomatous polyposis coli
adenocarcinoma in adenomatous polyposis coli (morphologic abnormality)
An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures.
An embryonal testis carcinoma that is located within a tubule.
Hodgkin-like posttransplantation lymphoproliferative disease
recurrent malignant peripheral nerve sheath neoplasm
A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
acute generalized peritonitis (disorder)
primary bacterial peritonitis (disorder)
Multiple Chondromatous hamartoma of lung
Multiple Chondromatous hamartoma of the lung
Clear cell squamous cell carcinoma of skin (disorder)
Crystal arthropathy NOS, of multiple sites (disorder)
Crystal arthropathy NOS, of the ankle and foot (disorder)
Crystal arthropathy NOS, of the forearm (disorder)
Crystal arthropathy NOS, of the hand (disorder)
Crystal arthropathy NOS, of the lower leg (disorder)
Crystal arthropathy NOS, of the pelvic region and thigh
Crystal arthropathy NOS, of the pelvic region and thigh (disorder)
Crystal arthropathy NOS, of the shoulder region (disorder)
Crystal arthropathy NOS, of the upper arm (disorder)
Crystal arthropathy of ankle and/or foot
Crystal arthropathy of ankle and/or foot (disorder)
Crystal arthropathy of forearm (disorder)
Crystal arthropathy of lower leg (disorder)
Crystal arthropathy of multiple sites (disorder)
Crystal arthropathy of shoulder region (disorder)
Crystal arthropathy of upper arm (disorder)
Unspecified crystal arthropathy involving ankle and foot
Unspecified crystal arthropathy involving forearm
Unspecified crystal arthropathy involving hand
Unspecified crystal arthropathy involving lower leg
Unspecified crystal arthropathy involving multiple sites
Unspecified crystal arthropathy involving pelvic region and thigh
Unspecified crystal arthropathy involving shoulder region
Unspecified crystal arthropathy involving upper arm
Atypical follicular adenoma (morphologic abnormality)
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.
Infestation by Sarcoptes scabiei var hominis
A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
mixed endometrial stromal and smooth muscle tumor
Palisaded Myofibroblastoma of the Lymph Node
metastatic carcinoma from the small bowel
metastatic carcinoma from the small Intestine
An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
testicular intratubular germ cell neoplasia with extratubular extension
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.
acute appendicitis with generalized peritonitis
acute appendicitis with generalized peritonitis (disorder)
acute appendicitis with peritoneal abscess
acute appendicitis with peritoneal abscess (disorder)
villoglandular variant cervical mucinous adenocarcinoma
intestinal variant cervical mucinous adenocarcinoma
endocervical type cervical mucinous adenocarcinoma
metastatic peripheral neuroepithelioma of bone
epithelioid malignant peripheral nerve sheath tumor
malignant epithelioid neoplasm of the peripheral nerve Sheath
pseudoglandular variant testicular seminoma
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.
enteric pattern testicular yolk sac tumor
relapsed adenocarcinoma of the esophagus
meningioma, chordoid (morphologic abnormality)
mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis
mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis
ectopic chorionic gonadotropin secretion disease
mixed embryonal carcinoma and seminoma of the testis
mixed Embryonal carcinoma and Seminoma of testis
mixed choriocarcinoma and seminoma of the testis
mixed Choriocarcinoma and Seminoma of testis
reticular pattern testicular yolk sac tumor
adult type testicular granulosa cell tumor
An arthritis that has_material_basis_in worn out cartilage located_in joint.
A mite infestation that involves rash caused by Leptotrombidium deliense.
An ischemic bone disease that results_in necrosis located_in epiphysis.
An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
malignant hemangiopericytoma nonmetastatic
Non-metastatic malignant hemangiopericytoma
A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.
microinvasive cervical squamous cell carcinoma
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.
carcinoma arising in nasal papillomatosis
Infantile fibrosarcoma (morphologic abnormality)
Macrofollicular adenoma (morphologic abnormality)
malignant glandular tumor of peripheral nerve sheath
tumor of follicular infundibulum (disorder)
Apocrine carcinoma in situ of the breast
testicular seminoma with syncytiotrophoblastic cells
Drug dependence complicating pregnancy, childbirth, or the puerperium
Pregnancy and drug dependence (disorder)
A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
Intussusception (morphologic abnormality)
A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
arthropathy associated with hematological disorder
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.
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.
Influenza with non-respiratory manifestation (disorder)
Influenza with other manifestations (disorder)
Influenza with other manifestations NOS (disorder)
influenza with non-respiratory manifestation
Circumscribed scleroderma NOS (disorder)
Unspecified circumscribed scleroderma (disorder)
localized scleroderma (disorder) [Ambiguous]
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.
Madura foot due to Actinomadura (disorder)
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
acute rheumatic myocarditis (disorder) [Ambiguous]
Retinal transient arterial occlusion NOS (disorder)
Transient arterial retinal occlusion (disorder)
An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
alveolitis due to cryptostroma corticale
An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.
Zygomycosis [Phycomycosis or Mucormycosis]
A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
disorder of amniotic fluid and membranes
primary uterine inertia - delivered (disorder)
Congenital night blindness (disorder) [Ambiguous]
Congenital night blindness NOS (disorder)
Hereditary night blindness NOS (disorder)
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
Updating out dated CUI and removing lung abscess as a synonym.
An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
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.
Dermatitis herpetiformis [dup] (disorder)
An autoimmune disease of skin and connective tissue characterized by large blisters.
Juvenile dermatitis herpetiformis (disorder)
Subcorneal pustular dermatosis (disorder)
Cyst of Bartholin's gland duct (disorder)
acute pulmonary heart disease (disorder)
acute pulmonary heart disease NOS (disorder)
A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.
nodular lymphoma involving lymph nodes of axilla and upper limb
nodular lymphoma of lymph nodes of axilla and upper limb (disorder)
Follicular low grade B-cell lymphoma (disorder)
Follicular non-Hodgkin's lymphoma (disorder)
malignant lymphoma, nodular NOS (morphologic abnormality)
nodular lymphoma (Brill - Symmers disease)
nodular lymphoma involving intra-abdominal lymph nodes
Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.
A pharynx cancer that is located_in the hypopharynx.
malignant neoplasm of hypopharynx NOS (disorder)
malignant neoplasm of ill-defined sites within the lip and oral cavity
malignant neoplasm of other specified hypopharyngeal site (disorder)
malignant neoplasm of other specified sites of hypopharynx
malignant neoplasm of posterior hypopharyngeal wall
malignant neoplasm of posterior wall of hypopharynx
malignant tumor of hypopharynx (disorder)
malignant tumor of posterior wall of hypopharynx (disorder)
A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection.
Herpes zoster with ophthalmic complication (disorder)
Herpes zoster with other ophthalmic complication (disorder)
herpes zoster with other ophthalmic complications
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.
recurrent manic episodes in full remission
Manic disorder, recurrent episode, in full remission
recurrent manic episodes, in full remission (disorder)
Sezary's disease involving lymph nodes of head, face, and neck
Sezary's disease involving lymph nodes of head, face and neck
Sezary's disease of lymph nodes of head, face and neck (disorder)
Szary's disease of lymph nodes of head, face and/or neck (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
Hodgkin lymphoma, lymphocyte-rich (disorder)
Hodgkin lymphoma, lymphocytic-histiocytic predominance
Hodgkin's disease, lymphocyte predominance [obs]
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.
A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
malignant hyperpyrexia due to anesthesia
Indolent ulcer (morphologic abnormality)
A myeloid leukemia that is characterized by over production of white blood cells.
A pharynx cancer that is located_in the oropharynx.
malignant neoplasm of junctional region of oropharynx
malignant neoplasm of lateral wall of oropharynx
malignant neoplasm of posterior wall of oropharynx
malignant tumor of oropharynx (disorder)
malignant tumor of posterior wall of oropharynx (disorder)
malignant tumour of mesopharynx (disorder)
primary malignant neoplasm of lateral wall of oropharynx
carcinoma in situ of female genital organs
carcinoma in situ of other and unspecified female genital organs (disorder)
A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
carcinoma in situ of breast and genitourinary system
carcinoma in situ of breast and genitourinary system (disorder)
malignant neoplasm of external Lip, not specified as upper or lower
malignant neoplasm of labial commissure of lip
malignant neoplasm of lip unspecified, inner aspect (disorder)
malignant neoplasm of lip, inner aspect NOS (disorder)
malignant neoplasm of lip, unspecified (disorder)
malignant neoplasm of lip, unspecified, external (disorder)
malignant neoplasm of lip, unspecified, inner aspect
malignant neoplasm of lip, unspecified, vermilion border
malignant neoplasm of lip, vermilion border NOS (disorder)
malignant neoplasm of lower lip, buccal aspect (disorder)
malignant neoplasm of lower lip, inner aspect NOS (disorder)
malignant neoplasm of lower lip, mucosa (disorder)
malignant neoplasm of lower lip, oral aspect
malignant neoplasm of oral aspect of lip, not specified whether upper or lower
malignant neoplasm of other sites of lip
malignant neoplasm of other sites of lip (disorder)
malignant neoplasm of vermilion border of lip
malignant neoplasm of vermilion border of lip unspecified (disorder)
malignant tumor of commissure of lip (disorder)
malignant tumor of labial mucosa (disorder)
malignant tumor of lower labial mucosa (disorder)
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.
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
stage I Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma
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.
Gammaherpesviral mononucleosis (disorder)
An amino acid metabolic disorder that involves failures of carboxylation enzymes.
A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
malignant tumor of soft palate (disorder)
Burkitt's tumor or lymphoma involving intrathoracic lymph nodes
Burkitt's lymphoma of intrathoracic lymph nodes (disorder)
A mature B-cell neoplasm of B-cells found in the germinal center.
small Non-Cleaved cell Lymphoma, Burkitt's type
Low-grade Intraepithelial Neoplasia of Cervix Uteri
Moderate squamous Dysplasia of the Cervix
cervical intraepithelial neoplasia I [CIN I]
cervical intraepithelial neoplasia grade 1
cervical intraepithelial neoplasia grade 1 (disorder)
cervical intraepithelial neoplasia grade 2
cervical intraepithelial neoplasia grade 2 (disorder)
Burkitt's tumor or lymphoma extranodal and solid organ sites
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder)
Multiple carboxylase deficiency - neonatal onset (disorder)
acute vascular insufficiency of intestine
acute gastrointestinal tract vascular insuffic. (disorder)
reticulosarcoma involving lymph nodes of inguinal region and lower limb
Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)
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.
mild degree recurrent episode manic disorder
Sezary's disease involving lymph nodes of inguinal region and lower limb
Sezary's disease of lymph nodes of inguinal region and lower limb (disorder)
Szary's disease of lymph nodes of inguinal region and/or lower limb
malignant tumor of upper gingiva (disorder)
malignant neoplasm of gum NOS (disorder)
malignant neoplasm of other sites of gum
malignant neoplasm of other sites of gum (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder)
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.
moderate degree recurrent episode manic disease
spontaneous abortion complicated by shock
spontaneous abortion complicated by shock (disorder)
spontaneous abortion, unspecified, complicated by shock
A gastrointestinal system cancer that is located_in the oral cavity.
malignant neoplasm of anterior portion of floor of mouth
malignant neoplasm of lateral floor of mouth
malignant neoplasm of lateral portion of floor of mouth
malignant tumor of anterior floor of mouth (disorder)
malignant tumor of lateral floor of mouth (disorder)
malignant tumor of the Floor of the Mouth
A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
reticulosarcoma involving intrapelvic lymph nodes
Reticulosarcoma of intrapelvic lymph nodes
Reticulosarcoma of intrapelvic lymph nodes (disorder)
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.
adhesions and disruptions of pupillary membranes
A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain.
Post-herpetic trigeminal neuralgia (disorder)
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb
Hodgkin's lymphoma, lymphocytic depletion
Hodgkin's disease, lymphocytic depletion
Hodgkin's disease, lymphocytic depletion (disorder)
Hodgkin's disease, lymphocytic depletion NOS
Hodgkin's disease, lymphocytic depletion NOS (disorder)
Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)
Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites
Hodgkin's lymphocytic depletion of unspecified site (disorder)
Lymphocyte-Depleted Classical Hodgkin Lymphoma
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral 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).
African lymphadenopathic Kaposi's sarcoma
Kaposi's sarcoma of central nervous system
Kaposi's sarcoma of conjunctiva (disorder)
Kaposi's sarcoma of gastrointestinal sites
Kaposi's sarcoma of lymph nodes (disorder)
Kaposi's sarcoma of soft tissue (disorder)
Kaposi's sarcoma of soft tissues (disorder)
Kaposi's sarcoma-associated herpesvirus (KSHV)
chronic intestinal vascular insufficiency
carcinoma in situ of prostate (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder)
Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)
A vein disease that is characterized by inflammation of a vein.
reticulosarcoma involving lymph nodes of multiple sites
Reticulosarcoma of lymph nodes of multiple sites
Reticulosarcoma of lymph nodes of multiple sites (disorder)
Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb
Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder)
Tongue neoplasm malignant stage Unspecified
malignant neoplasm of anterior 2/3 of tongue unspecified (disorder)
malignant neoplasm of anterior two-thirds of tongue, part unspecified
malignant neoplasm of dorsal surface of tongue
malignant neoplasm of dorsum of tongue NOS (disorder)
malignant neoplasm of fixed part of tongue NOS
malignant neoplasm of fixed part of tongue NOS (disorder)
malignant neoplasm of junctional zone of tongue
malignant neoplasm of mobile part of tongue NOS
malignant neoplasm of other sites of tongue
malignant neoplasm of other sites of tongue (disorder)
malignant neoplasm of tip and lateral border of tongue
malignant neoplasm of tip and/or lateral border of tongue
malignant neoplasm of tongue NOS (disorder)
malignant neoplasm of tongue, tip and lateral border (disorder)
malignant neoplasm of ventral surface of tongue
malignant neoplasm of ventral tongue surface NOS (disorder)
malignant tumor of anterior two-thirds of tongue (disorder)
malignant tumor of base of tongue (disorder)
malignant tumor of lingual tonsil (disorder)
malignant tumor of mobile part of tongue
A vascular disease that is characterized by inflammation of the blood vessels.
Hodgkin's granuloma involving intrapelvic lymph nodes
Hodgkin's granuloma of intrapelvic lymph nodes
Hodgkin's granuloma of intrapelvic lymph nodes (disorder)
Hodgkin's granuloma of unspecified site (disorder)
Hodgkin's granuloma, unspecified site, extranodal and solid organ sites
Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes
Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes
Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes
Hodgkin's disease, mixed cellularity (disorder)
Hodgkin's disease, mixed cellularity NOS (disorder)
Hodgkin's disease, mixed cellularity of unspecified site (disorder)
Sezary's disease involving lymph nodes of multiple sites
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.
A vascular disease that is located_in a vein.
malignant tumor of pharyngoesophageal junction
A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues.
carcinoma in situ of digestive organ (disorder)
carcinoma in situ of digestive organ NOS
carcinoma in situ of digestive organ, unspecified (disorder)
carcinoma in situ of digestive organs NOS (disorder)
carcinoma in situ of other and unspecified digestive organs (disorder)
malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold
malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder)
nodular lymphoma involving intrapelvic lymph nodes
nodular lymphoma of intrapelvic lymph nodes
nodular lymphoma of intrapelvic lymph nodes (disorder)
Hodgkin's sarcoma involving intra-abdominal lymph nodes
Hodgkin's sarcoma of intra-abdominal lymph nodes
Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder)
A cholesteatoma located_in paranasal sinus.
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.
lymphosarcoma involving intrapelvic lymph nodes
malignant histiocytosis involving lymph nodes of multiple sites
malignant histiocytosis of lymph nodes of multiple sites (disorder)
Necrotizing enterocolitis in fetus OR newborn (disorder)
Perinatal necrotizing enterocolitis (disorder)
Pseudomembranous enterocolitis in newborn
Alcoholic gastritis, without mention of hemorrhage
Myeloid sarcoma without mention of remission
Myeloid sarcoma, morphology (morphologic abnormality)
A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
carcinoma in situ of eyelid including canthus
carcinoma in situ of scalp and skin of neck
carcinoma in situ of scalp and skin of neck (disorder)
carcinoma in situ of skin of ear and external auditory canal
carcinoma in situ of skin of ear and external auricular canal
carcinoma in situ of skin of lower limb including hip
carcinoma in situ of skin of trunk except scrotum
carcinoma in situ of skin of trunk, excluding scrotum (disorder)
carcinoma in situ of skin of upper limb including shoulder
malignant neoplasm of tonsillar pillars, posterior
malignant tumor of tonsillar pillar (disorder)
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.
A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
Mycosis fungoides involving lymph nodes of head, face, and neck
Mycosis fungoides involving lymph nodes of head, face and neck
Mycosis fungoides of lymph nodes of head, face and/or neck (disorder)
Mycosis fungoides of the lymph nodes of head, face and neck (disorder)
Mycosis fungoides (morphologic abnormality)
Mycosis fungoides NOS (morphologic abnormality)
Mycosis fungoides of unspecified site (disorder)
Mycosis fungoides, unspecified site, extranodal and solid organ sites
A leukemia that is located_in myeloid tissue.
Myeloid leukemia in remission (disorder)
Myeloid leukemia, NOS, without mention of remission
Myeloid leukemia, no ICD-O subtype (morphologic abnormality)
Myeloid leukemias (morphologic abnormality)
Other myeloid leukemia (morphologic abnormality)
Other myeloid leukemia NOS (morphologic abnormality)
Other myeloid leukemia without mention of remission
Unspecified myeloid leukemia in remission
Unspecified myeloid leukemia without mention of remission
A nervous system disease that is located_in nerves or nerve cells.
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder)
malignant neoplasm of cheek, inner aspect
malignant tumor of buccal mucosa (disorder)
A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area.
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.
Lymphosarcoma and reticulosarcoma (disorder)
Other named variants of lymphosarcoma and reticulosarcoma
Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites
Other named variants of lymphosarcoma and reticulosarcoma involving spleen
Other named variants of lymphosarcoma and reticulosarcoma, unspecified site
Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues.
carcinoma in situ of respiratory tract (disorder)
A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy.
An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease.
A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.
malignant carotid body tumor (morphologic abnormality)
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.
A pneumonia involving inflammation of the lungs caused by bacteria.
Pneumonia due to other gram-negative bacteria
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.
Hodgkin's granuloma involving lymph nodes of head, face, and neck
Hodgkin's granuloma involving lymph nodes of head, face and neck
Hodgkin's granuloma of lymph nodes of head, face and neck (disorder)
Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder)
Atypical chronic myeloid leukemia (disorder)
actinic reticuloid and actinic granuloma
Hodgkin's granuloma involving intrathoracic lymph nodes
A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus.
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder)
lymphosarcoma involving lymph nodes of multiple sites
A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
acute Megakaryoblastic Leukemia (FAB type M7)
acute megakaryoblastic leukaemia, FAB M7
acute megakaryoblastic leukemia, FAB M7 (disorder)
A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal.
Herpes simplex otitis externa (disorder)
A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate.
lymphosarcoma involving intra-abdominal lymph nodes
malignant histiocytosis involving lymph nodes of axilla and upper limb
malignant histiocytosis involving lymph nodes of inguinal region and lower limb
malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder)
malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder)
reticulosarcoma involving intra-abdominal lymph nodes
Reticulosarcoma of intra-abdominal lymph nodes
Reticulosarcoma of intra-abdominal lymph nodes (disorder)
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis.
nodular lymphoma involving lymph nodes of head, face, and neck
nodular lymphoma involving lymph nodes of head, face and neck
nodular lymphoma of lymph nodes of head, face and neck (disorder)
nodular lymphoma of lymph nodes of head, face, and neck (disorder)
chronic ulcerative rectosigmoiditis (disorder)
An intestinal disease that involves inflammation located_in intestine.
MSH:C536215 added from NeuroDevNet [WAK].
regional enteritis of small intestine with large intestine
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.
A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching.
Disseminated chorioretinitis and disseminated retinochoroiditis
Disseminated chorioretinitis and retinochoroiditis NOS (disorder)
Disseminated chorioretinitis, unspecified
Unspecified disseminated chorioretinitis (disorder)
A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues.
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder)
Hodgkin's granuloma of spleen (disorder)
Hodgkin's lymphoma, mixed cellularity, involving spleen
Hodgkin's disease, mixed cellularity of spleen
Hodgkin's disease, mixed cellularity of spleen (disorder)
Hodgkin's disease, mixed cellularity, involving spleen
carcinoma in situ of bronchus and lung (disorder)
carcinoma in situ of bronchus or lung NOS (disorder)
Repetitive intrusions of sleep (disorder)
(Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction)
malignant histiocytosis involving intrapelvic lymph nodes
malignant histiocytosis of intrapelvic lymph nodes (disorder)
malignant histiocytosis involving intrathoracic lymph nodes
malignant histiocytosis of intrathoracic lymph nodes (disorder)
A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear.
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.
chronic ulcerative ileocolitis (disorder)
Hodgkin's paragranuloma involving spleen
Hodgkin's paragranuloma of spleen (disorder)
carcinoma in situ of colon NOS (disorder)
systemic inflammatory response syndrome (SIRS) NOS
systemic inflammatory response syndrome, unspecified
parasitic helminthiasis infectious disease
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder)
Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck
Burkitt's lymphoma of lymph nodes of head, face and neck (disorder)
Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck
Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck
Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck
Classical Hodgkin lymphoma, nodular sclerosis
Hodgkin's disease, nodular sclerosis (disorder)
Hodgkin's disease, nodular sclerosis NOS (disorder)
Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)
Hodgkin's disease, nodular sclerosis of unspecified site (disorder)
An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain.
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.
Infection by Metagonimus yokogawai (disorder)
Erythema nodosum with hypersensitivity reaction in tuberculosis
Erythema nodosum with tuberculosis NOS (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites
Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites
Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites
nodular Sclerosis Hodgkin's Lymphoma stage III
A salivary gland cancer that is located_in the sublingual gland.
malignant tumor of sublingual gland (disorder)
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.
An oral cavity cancer that is located_in the salivary gland.
malignant neoplasm of major salivary gland
malignant neoplasm of salivary gland duct
malignant tumor of the Major Salivary gland
Hodgkin's granuloma involving intra-abdominal lymph nodes
Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)
Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder)
Hodgkin's disease, lymphocytic depletion, involving intrathoracic lymph nodes
malignant neoplasm of faucial tonsil (disorder)
malignant neoplasm of palatine tonsil (disorder)
Infundibular pulmonic stenosis (disorder)
Infundibular pulmonic stenosis, congenital
pulmonary infundibular stenosis (disorder)
acute Monoblastic Leukemia and acute Monocytic Leukemia
acute monocytic leukemia without mention of remission
acute monocytic leukemia, FAB M5 (disorder)
acute monocytic leukemia, morphology (morphologic abnormality)
actinic keratosis (morphologic abnormality)
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.
Mycosis fungoides involving lymph nodes of multiple sites
Mycosis fungoides of lymph nodes of multiple sites (disorder)
A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord.
A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream.
nodular lymphoma involving intrathoracic lymph nodes
nodular lymphoma of intrathoracic lymph nodes
nodular lymphoma of intrathoracic lymph nodes (disorder)
Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites
Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites
Penile intraepithelial neoplasia grade III
Queyrat's erythroplasia (morphologic abnormality)
grade III squamous Intraepithelial Lesion of penis
Hodgkin's sarcoma involving lymph nodes of multiple sites
Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)
A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions.
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.
Infection by Fasciolopsis buski (disorder)
Other and unspecified forms of chorioretinitis and retinochoroiditis
Other chorioretinitis and retinochoroiditis (disorder)
Other chorioretinitis or retinochoroiditis NOS (disorder)
Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
Hodgkin's granuloma involving lymph nodes of axilla and upper limb
Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder)
nodular lymphoma involving lymph nodes of inguinal region and lower limb
nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)
A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge.
Otitis externa due to Herpes zoster (disorder)
Nonspecific ulcerative proctitis (disorder)
progressive myoclonic epilepsy (disorder)
progressive myoclonic epilepsy (disorder) [Ambiguous]
A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
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.
Burkitt's tumor or lymphoma involving intrapelvic lymph nodes
Burkitt's lymphoma of intrapelvic lymph nodes (disorder)
A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions.
mycosis fungoides involving lymph nodes of axilla and upper limb
Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb
Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder)
Mycosis fungoides involving lymph nodes of inguinal region and lower limb
Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder)
Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder)
A skin cancer that has_material_basis_in melanocytes.
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
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
Immune thrombocytopenic purpura (disorder)
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.
lymphosarcoma involving lymph nodes of head, face, and neck
malignant tumor of retromolar area (disorder)
(Thrombocytopenia: [primary] or [idopathic purpuric] or [idiopathic] or [purpuric]) or (Evan's syndrome)
An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision.
Dupuytren's contracture of foot (disorder)
malignant tumor of Waldeyer's ring (disorder)
reticulosarcoma involving intrathoracic lymph nodes
Reticulosarcoma of intrathoracic lymph nodes
Reticulosarcoma of intrathoracic lymph nodes (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb
Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb
nervous system heredodegenerative disease
A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
Generalized seborrheic dermatitis of infants (disorder)
Infantile seborrheic dermatitis (disorder)
Infantile seborrheic dermatitis NOS (disorder)
Seborrheic dermatitis of scalp (disorder)
familial amyloid neuropathy, Finnish type (disorder)
severe nonproliferative diabetic retinopathy
High risk non proliferative diabetic retinopathy
High risk non proliferative diabetic retinopathy (disorder)
disorder of copper metabolism (disorder)
disorder of copper metabolism NOS (disorder)
An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
lymphosarcoma involving lymph nodes of axilla and upper limb
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb
An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness.
malignant neoplasm of tonsillar fossa NOS (disorder)
malignant tumor of tonsillar fossa (disorder)
A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself).
Subacute sclerosing panencephalitis (disorder)
Subacute sclerosing panencephalitis (disorder) [Ambiguous]
Van Bogaert's sclerosing leukoencephalitis
Van Bogaert's sclerosing leukoencephalitis (disorder)
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites
Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites
mixed cellularity Hodgkin's disease stage III
Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb
Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)
Tuberculosis of peripheral lymph nodes (disorder)
Tuberculosis of peripheral lymph nodes NOS (disorder)
Tuberculosis of peripheral lymph nodes, unspecified examination
malignant histiocytosis involving lymph nodes of head, face, and neck
malignant histiocytosis involving lymph nodes of head, face and neck
malignant histiocytosis of lymph nodes of head, face and neck (disorder)
malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb
Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder)
Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes
An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium.
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen
Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen
Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder)
Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)
A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Hodgkin's granuloma involving lymph nodes of multiple sites
Hodgkin's granuloma of lymph nodes of multiple sites (disorder)
carcinoma in situ of uterine cervix (disorder)
cervical intraepithelial neoplasia grade III with severe dysplasia (disorder)
squamous intraepithelial neoplasia, grade III
Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb
Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's sarcoma involving lymph nodes of head, face, and neck
Hodgkin's sarcoma involving lymph nodes of head, face and neck
Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder)
Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)
malignant histiocytosis involving intra-abdominal lymph nodes
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
Hodgkin's lymphoma, nodular sclerosis, involving spleen
Hodgkin's disease, nodular sclerosis of spleen
Hodgkin's disease, nodular sclerosis of spleen (disorder)
Hodgkin's disease, nodular sclerosis, involving spleen
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.
Sudden death of nonspecific cause in infancy
Sudden infant death syndrome (context-dependent category)
Sudden infant death syndrome NOS (context-dependent category)
A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
Burkitt's tumor or lymphoma involving lymph nodes of multiple sites
Burkitt's lymphoma of lymph nodes of multiple sites (disorder)
carcinoma in situ of larynx NOS (disorder)
Sezary's disease involving lymph nodes of axilla and upper limb
Sezary's disease of lymph nodes of axilla and upper limb (disorder)
Szary's disease of lymph nodes of axilla and/or upper limb (disorder)
malignant non-epithelial hepatic and intrahepatic bile duct neoplasm
carcinoma in situ of other and unspecified parts of intestine (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes
Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes
Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes
Hodgkin's sarcoma involving lymph nodes of axilla and upper limb
Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)
A salivary gland cancer that is located_in the parotid gland.
malignant tumor of parotid gland (disorder)
Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb
Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's paragranuloma involving lymph nodes of head, face, and neck
Hodgkin's paragranuloma involving lymph nodes of head, face and neck
Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder)
Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)
reticulosarcoma involving lymph nodes of head, face, and neck
Reticulosarcoma involving lymph nodes of head, face and neck
Reticulosarcoma of lymph nodes of head, face and neck (disorder)
Reticulosarcoma of lymph nodes of head, face, and neck (disorder)
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb
Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb
polyp: [endometrial/uterine NOS] or [endometrial]
nodular lymphoma involving lymph nodes of multiple sites
nodular lymphoma of lymph nodes of multiple sites
nodular lymphoma of lymph nodes of multiple sites (disorder)
A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism.
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb
Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb
lymphosarcoma involving intrathoracic lymph nodes
A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever.
An inherited metabolic disorder that involves peroxisome malfunction.
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.
A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
Staphylococcal scalded skin syndrome (disorder)
Toxic epidermal necrolysis, subcorneal type (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites
Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites
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).
Post-kala-azar dermal leishmaniasis (disorder)
post-kala-azar dermal infectious disease by leishmaniasis
Hodgkin's paragranuloma involving intrathoracic lymph nodes
Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)
malignant histiocytosis involving spleen
malignant histiocytosis of spleen (disorder)
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.
discoid lupus erythematosus of eyelid (disorder)
Hodgkin's paragranuloma involving intrapelvic lymph nodes
Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)
Hodgkin's paragranuloma involving lymph nodes of multiple sites
Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)
mycosis fungoides involving intrathoracic lymph nodes
Mycosis fungoides of intrathoracic lymph nodes
Mycosis fungoides of intrathoracic lymph nodes (disorder)
Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes
Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes
Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes
anal intraepithelial neoplasia grade III
anal intraepithelial neoplasia, grade III
carcinoma in situ of anal canal (disorder)
carcinoma in situ of anus NOS (disorder)
A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
Rapid eye movement sleep behavior disorder
Hodgkin's sarcoma involving intrathoracic lymph nodes
Hodgkin's sarcoma of intrathoracic lymph nodes
Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)
Hodgkin's paragranuloma involving intra-abdominal lymph nodes
Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)
carcinoma in situ of esophagus (disorder)
carcinoma in situ of esophagus NOS (disorder)
Erythematosquamous dermatosis (disorder)
Erythematosquamous dermatosis NOS (disorder)
A skin disease that is located_in the sebaceous gland.
malignant neoplasm of occipital lobe (disorder)
carcinoma in situ of male genital organs
carcinoma in situ of other and unspecified male genital organs (disorder)
mycosis fungoides involving intrapelvic lymph nodes
Mycosis fungoides of intrapelvic lymph nodes
Mycosis fungoides of intrapelvic lymph nodes (disorder)
carcinoma in situ of other and unspecified parts of uterus (disorder)
mycosis fungoides involving intra-abdominal lymph nodes
Mycosis fungoides of intra-abdominal lymph nodes
Mycosis fungoides of intra-abdominal lymph nodes (disorder)
A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
(Granuloma inguinale) or (donovanosis) or (pudendal ulcer)
A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis.
A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains.
Hodgkin's lymphoma, lymphocytic depletion, involving spleen
Hodgkin's disease, lymphocytic depletion of spleen
Hodgkin's disease, lymphocytic depletion of spleen (disorder)
Hodgkin's disease, lymphocytic depletion, involving spleen
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.
An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites
Hodgkin's disease, mixed cellularity, extranodal and solid organ sites
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.
Eczema herpeticum (disorder) [Ambiguous]
Herpes simplex dermatitis of eyelid (disorder)
Herpes simplex eyelid dermatitis (disorder)
Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes
malignant tumor of lower gingiva (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes
Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes
Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes
carcinoma in situ of biliary system (& [and liver])
carcinoma in situ of liver and biliary system (disorder)
carcinoma in situ of liver or biliary system NOS (disorder)
carcinoma in situ of liver, gallbladder and bile ducts
carcinoma in situ of stomach NOS (disorder)
Herpes simplex virus meningoencephalitis
A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites
Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites
Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites
stage III Hodgkin's Lymphoma Lymphocyte Depletion type
Burkitt's tumor or lymphoma involving spleen
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.
malignant tumor of hard palate (disorder)
Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes
Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes
Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes
A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
American mucocutaneous leishmaniasis (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes
Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes
Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes
Sezary's disease involving intra-abdominal lymph nodes
Sezary's disease of intra-abdominal lymph nodes (disorder)
Szary's disease of intra-abdominal lymph nodes (disorder)
(Gas gangrene) or (Clostridium infection)
A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis.
epithelial hepatic and intrahepatic bile duct neoplasm
Sezary's disease involving intrapelvic lymph nodes
Sezary's disease of intrapelvic lymph nodes (disorder)
Szary's disease of intrapelvic lymph nodes (disorder)
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.
Lack of reflex relaxation of lower oesophageal sphincter
hypertensive lower esophageal sphincter (disorder)
malignant neoplasm of submaxillary gland
malignant tumor of submandibular gland (disorder)
malignant tumor of the Submandibular gland
An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.
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.
Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb
Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)
malignant neoplasm of vestibule of mouth NOS (disorder)
malignant tumor of vestibule of mouth (disorder)
Generalized hyperhidrosis (context-dependent category)
A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.
Sezary's disease involving intrathoracic lymph nodes
Sezary's disease of intrathoracic lymph nodes (disorder)
Szary's disease of intrathoracic lymph nodes (disorder)
A communication disorder that involves difficulty with the act of speech production.
A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known.
disorder of optic chiasm associated with pituitary neoplasm and disorder
Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes
Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)
(ulcerative esophagitis) or (Barrett's esophagus)
Barrett's esophagus (disorder) [Ambiguous]
Barrett's esophagus with esophagitis (disorder)
A sleep disorder that involves involuntary limb movement during sleep.
(Geniculate herpes zoster) or (Ramsey Hunt syndrome)
A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck
Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck
A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection.
Herpes zoster dermatitis of eyelids (disorder)
Herpes zoster with dermatitis of eyelid (disorder)
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.
lymphosarcoma involving lymph nodes of inguinal region and lower limb
A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions.
Hodgkin's sarcoma involving intrapelvic lymph nodes
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck
Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck
Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck
A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester.
Vesicular eczema of hands and/or feet (disorder)
carcinoma in situ of other and unspecified urinary organs (disorder)
malignant neoplasm of the Pyriform Fossa
malignant tumor of pyriform fossa (disorder)
reticulosarcoma involving lymph nodes of axilla and upper limb
Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder)
dutch hereditary cerebral amyloid angiopathy
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.
type IV short rib polydactyly syndrome (disorder)
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
An inherited metabolic disorders which impair the synthesis and degradation of amino acids.
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
multiple system tauopathy with presenile dementia
A large intestine cancer that is located_in the colon and/or located_in the rectum.
An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
van der Hoeve Halbertsona Waardenburg syndrome
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.
malignant neoplasm of anterior wall of nasopharynx
malignant neoplasm of lateral wall of nasopharynx
malignant neoplasm of lateral wall of nasopharynx NOS (disorder)
malignant neoplasm of nasopharyngeal wall (disorder)
malignant neoplasm of nasopharyngeal wall NOS
malignant neoplasm of nasopharynx (disorder) [Ambiguous]
malignant neoplasm of other specified sites of nasopharynx
malignant neoplasm of posterior wall of nasopharynx
malignant neoplasm of roof of nasopharynx
malignant neoplasm of superior wall of nasopharynx
malignant tumor of anterior wall of nasopharynx
malignant tumor of lateral wall of nasopharynx
malignant tumor of posterior wall of nasopharynx
primary malignant neoplasm of anterior wall of nasopharynx
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Disturbance of sulfur-bearing amino acid metabolism NOS (disorder)
Disturbance of sulphur-bearing amino-acid metabolism NOS
Disturbances of sulphur-bearing amino-acid metabolism
An amino acid metabolic disorder that involves deficiency in histidine.
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
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.
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
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.
dihydrolipoamide dehydrogenase deficiency
secondary malignant neoplasm of brain (disorder)
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Homogentisate 1,2-dioxygenase deficiency
ornithine carbamoyltransferase deficiency
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
An urea cycle disorder that involves the accumulation of ammonia in the blood.
deficiency of citrulline-aspartate ligase
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
carbamoyl phosphate synthetase I deficiency disease
An amino acid metabolic disorder that involves accumulation of ammonia in the blood.
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Myopathy of extraocular muscles (disorder)
A communication disorder that involves the processing of linguistic information.
An adnexa disease that is located_in the eye socket.
An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen.
A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep.
A ethmoid sinusitis which lasts for 12 weeks or more.
glaucoma associated with anomalies of iris
Glaucoma associated with anomalies of iris (disorder)
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.
Displacement of lumbar intervertebral disc without myelopathy
Displacement of lumbar intervertebral disc without myelopathy (disorder)
Displacement of thoracic intervertebral disc without myelopathy (disorder)
displacement of the lumbar or lumbosacral intervertebral disc without myelopathy
displacement of thoracic intervertebral disc without myelopathy
displacement of thoracic or lumbar intervertebral disc without myelopathy
A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract.
Cestode infection, unspecified (disorder)
Generalized visual field contraction or constriction
A disease by infectious agent that results_in infection, has_material_basis_in Viruses.
Complete unilateral cleft palate with cleft lip (disorder)
Unilateral complete cleft palate with cleft lip
Unilateral complete cleft palate with cleft lip (disorder)
Unilateral incomplete cleft palate with cleft lip
Unilateral incomplete cleft palate with cleft lip (disorder)
cleft palate with cleft lip, unilateral, complete
cleft palate with cleft lip, unilateral, incomplete
incomplete unilateral cleft palate with cleft lip (disorder)
A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly.
Congenital dislocation of hip NOS (disorder)
Fibular collateral ligament bursitis (disorder)
An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.
An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment.
Asthma with status asthmaticus (disorder)
Inflammatory pseudotumor of orbit (disorder)
A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase.
An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra.
A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.
Glaucoma associated with ocular inflammations
Glaucoma associated with ocular inflammations (disorder)
Infectious secondary iridocyclitis (disorder)
secondary infected iridocyclitis (disorder)
A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
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.
A laryngitis which lasts less than a few days.
acute laryngitis with obstruction (disorder)
An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
acute epiglottitis with obstruction (disorder)
acute epiglottitis without mention of obstruction
acute epiglottitis without obstruction (disorder)
Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
strictly posterior acute myocardial infarction
Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium
abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium
An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
Extrinsic asthma with status asthmaticus (disorder)
extrinsic asthma with acute exacerbation
extrinsic asthma with status asthmaticus
An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
Infective dermatitis of eyelid of types resulting in deformity
Infective eyelid dermatitis of types resulting in deformity (disorder)
A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes.
A bile duct disease that is an inflammation of the bile duct.
infectious disease of the breast and nipple associated with childbirth
A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue.
A uterine cancer that is located_in the uterine corpus.
A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.
An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection.
Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
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.
An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.
disseminated eosinophilic collagen disease
An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
Cryptogenic pulmonary eosinophilia (disorder)
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.
A substance abuse that involves the recurring use of cannabis despite negative consequences.
A ethmoid sinusitis which lasts for less than 4 weeks.
A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
multiple myeloma and immunoproliferative neoplasm
Laron-type isolated somatotropin defect (disorder)
acute renal failure with lesion of renal medullary necrosis
Rhesus isoimmunisation affecting management of mother
A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
A pneumothorax in which air enters into the pleural cavity.
A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.
A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
A myeloma that is located_in the plasma cells in bone marrow.
A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody.
An endocrine system disease that is located_in the adrenal gland.
A ciliopathy that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
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.
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.
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.
An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise.
Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures.
A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone.
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.
Intravascular Pseudosarcomatous Fasciitis
A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy.
A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
Pre-eclampsia or eclampsia superimposed on pre-existing hypertension
hypertension complicating pregnancy, childbirth and the puerperium
A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
cervical incompetence complicating pregnancy, childbirth, or the puerperium
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.
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.
malignant neoplasm of cerebrum except lobes and ventricles
An eye and adnexa disease that is located in the vitreous of the eye.
An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
A blue drum syndrome caused by an allergen.
A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation.
A respiratory system disease which involves the upper respiratory tract.
A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas.
A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum.
ganglion or cyst of synovium/tendon/bursa
arthropathy associated with dermatological disorder
calculus of gallbladder with cholecystitis (disorder)
Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues.
Retracted nipple associated with childbirth
hematological disease of fetus and newborn
female breast upper-outer quadrant cancer
A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
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.
A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing.
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.
A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation.
A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome.
A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung.
anti-glomerular basement membrane disease
partial circumpapillary choroid dystrophy
Recent retinal detachment, total or subtotal
partial recent retinal detachment with giant tear
disorganized type schizophrenia subchronic state with acute exacerbation
Partial recent retinal detachment with retinal dialysis
total or subtotal old retinal detachment
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.
Myofascial pain - dysfunction syndrome of TMJ
temporomandibular joint dysfunction syndrome
Convergence in manifest squint (finding)
Esotropia is a strabismus in which the eye turns inward toward the nose.
total circumpapillary dystrophy of choroid
Circumpapillary dystrophy of choroid, total
A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
disorganized type schizophrenia subchronic state
A syphilis that results_in a multisystem infection in the fetus via the placenta.
A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
Tuberculosis miliaris disseminata (disorder)
hereditary fructose intolerance syndrome
Fructose-1,6-bisphosphate aldolase B deficiency
A hypotrichosis that is characterized by a loss of hair from the head or body.
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Excessive vomiting starting after 22 completed weeks of gestation
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.
A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
Benign pseudohypertrophic muscular dystrophy
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
glaucoma associated with tumors or cysts
An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
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.
Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
metastatic malignant tumor to the Axilla
malignant neoplasm of ribs, sternum and clavicle
secondary malignant neoplasm to the chest wall
malignant neoplasm of thoracic esophagus
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum.
A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses.
primary Neisseriaceae infectious disease
An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
chronic inflammation of lacrimal passage
Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium
residual stage corticosteroid-induced glaucoma
A lymphoblastic leukemia that is characterized by over production of lymphoblasts.
Null cell acute lymphoblastic leukemia (disorder)
A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
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.
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
A drug dependence that is a psychological dependency on the regular use of cocaine.
An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
A tertiary syphilis that results_in infection located_in brain or located_in spinal cord.
secondary malignant neoplasm of orbit (disorder)
endocrine and metabolic disturbances specific to the fetus and newborn