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disease_id name description
DOID:0001816 angiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
DOID:0002116 pterygium
DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:0050004 seminal vesicle acute gonorrhea
DOID:0050012 chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
DOID:0050013 carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
DOID:0050025 human granulocytic anaplasmosis An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
DOID:0050026 human monocytic ehrlichiosis An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
DOID:0050032 mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism.
DOID:0050035 African tick-bite fever A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
DOID:0050041 Astrakhan spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
DOID:0050042 Indian tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
DOID:0050043 Israeli tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
DOID:0050046 Far Eastern spotted fever A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
DOID:0050047 Flinders Island spotted fever A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
DOID:0050050 Japanese spotted fever A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
DOID:0050051 Rickettsia parkeri spotted fever A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
DOID:0050052 Rocky Mountain spotted fever A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
DOID:0050059 oropharyngeal anthrax A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite.
DOID:0050061 erysipeloid A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
DOID:0050068 pestis minor A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
DOID:0050072 adiaspiromycosis A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
DOID:0050073 invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
DOID:0050083 Keshan disease
DOID:0050084 rhinotracheitis An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
DOID:0050096 tinea barbae A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
DOID:0050097 ectothrix infectious disease A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
DOID:0050105 endothrix infectious disease A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
DOID:0050116 tinea imbricata A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
DOID:0050117 disease by infectious agent A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
DOID:0050118 La Crosse encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
DOID:0050120 hemophagocytic lymphohistiocytosis A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
DOID:0050125 dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
DOID:0050127 sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
DOID:0050129 secretory diarrhea 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.
DOID:0050130 osmotic diarrhea 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.
DOID:0050131 motility-related diarrhea 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.
DOID:0050132 inflammatory diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
DOID:0050133 superficial mycosis A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
DOID:0050134 cutaneous mycosis A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
DOID:0050135 subcutaneous mycosis A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
DOID:0050136 systemic mycosis A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
DOID:0050138 podoconiosis
DOID:0050140 acute diarrhea A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
DOID:0050141 intestinal botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins.
DOID:0050143 asymptomatic dengue A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
DOID:0050144 Kartagener syndrome A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.
DOID:0050145 adenoiditis An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing.
DOID:0050147 otomycosis A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
DOID:0050148 laryngotracheitis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
DOID:0050150 Pontiac fever A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
DOID:0050152 aspiration pneumonia A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
DOID:0050153 pulmonary aspergilloma An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
DOID:0050156 idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
DOID:0050157 cryptogenic organizing pneumonia An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
DOID:0050158 desquamative interstitial pneumonia An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
DOID:0050159 lymphoid interstitial pneumonia An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
DOID:0050160 inhalation anthrax An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract.
DOID:0050166 tuberculous salpingitis An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
DOID:0050167 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.
DOID:0050168 autoimmune polyendocrine syndrome type 2 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
DOID:0050174 Kunjin encephalitis A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
DOID:0050175 tick-borne encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
DOID:0050179 Powassan encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
DOID:0050185 erythema multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
DOID:0050194 Argentine hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
DOID:0050195 Bolivian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
DOID:0050196 Venezuelan hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
DOID:0050197 Brazilian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
DOID:0050198 Chapare hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
DOID:0050199 Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
DOID:0050200 Korean hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
DOID:0050201 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
DOID:0050202 lujo hemorrhagic fever A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
DOID:0050204 Epstein-Barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
DOID:0050211 swine influenza An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
DOID:0050218 polycystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
DOID:0050222 selective IgM deficiency disease A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
DOID:0050242 primary amebic meningoencephalitis A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
DOID:0050246 granulomatous amebic encephalitis A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
DOID:0050250 philophthalmiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
DOID:0050251 coenurosis A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
DOID:0050253 mesocestoidiasis A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
DOID:0050254 acanthocephaliasis A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
DOID:0050256 angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
DOID:0050259 baylisascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
DOID:0050260 dioctophymiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
DOID:0050261 thelaziasis A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
DOID:0050266 tungiasis A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
DOID:0050268 ophthalmomyiasis A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
DOID:0050278 basidiobolomycosis A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
DOID:0050279 conidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
DOID:0050288 penicilliosis An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
DOID:0050289 fusariosis An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
DOID:0050290 trichosporonosis An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
DOID:0050291 parasitic Ichthyosporea infectious disease A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
DOID:0050292 primary systemic mycosis A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
DOID:0050304 aniseikonia
DOID:0050308 Alkhurma hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
DOID:0050328 congenital hypothyroidism A hypothyroidism that is present at birth.
DOID:0050331 LADD syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
DOID:0050332 enlarged vestibular aqueduct
DOID:0050336 hypophosphatemia
DOID:0050338 primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
DOID:0050339 commensal bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
DOID:0050340 opportunistic bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
DOID:0050352 foodborne botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
DOID:0050353 wound botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
DOID:0050354 infant botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
DOID:0050382 glandular tularemia A tularemia that results_in swelling of regional lymph glands.
DOID:0050383 typhoidal tularemia A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050398 Carrion's Disease A primary bacterial infectious disease 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.
DOID:0050419 complement factor I deficiency
DOID:0050424 familial adenomatous polyposis An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
DOID:0050425 restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
DOID:0050426 Stevens-Johnson syndrome
DOID:0050427 xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
DOID:0050428 nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
DOID:0050429 Hailey-Hailey disease
DOID:0050430 multiple endocrine neoplasia type 2A An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
DOID:0050431 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.
DOID:0050432 Asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
DOID:0050433 fatal familial insomnia
DOID:0050434 Andersen-Tawil syndrome A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
DOID:0050436 mulibrey nanism
DOID:0050437 Danon disease
DOID:0050438 Frasier syndrome
DOID:0050439 Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment.
DOID:0050440 familial partial lipodystrophy A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
DOID:0050441 mucosulfatidosis
DOID:0050444 infantile refsum disease
DOID:0050445 X-linked hypophosphatemia A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.
DOID:0050448 hereditary mucosal leukokeratosis A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
DOID:0050449 pachyonychia congenita
DOID:0050450 Gitelman syndrome
DOID:0050451 Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
DOID:0050452 mevalonic aciduria
DOID:0050453 lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
DOID:0050454 periventricular nodular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
DOID:0050456 Buruli ulcer disease A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
DOID:0050457 Sertoli cell-only syndrome
DOID:0050458 juvenile myelomonocytic leukemia
DOID:0050459 hyperphosphatemia
DOID:0050460 Wolf-Hirschhorn syndrome
DOID:0050461 aspartylglucosaminuria
DOID:0050462 Antley-Bixler syndrome An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
DOID:0050463 campomelic dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
DOID:0050464 Farber lipogranulomatosis
DOID:0050465 Muir-Torre syndrome
DOID:0050466 Loeys-Dietz syndrome
DOID:0050467 erythrokeratodermia variabilis
DOID:0050468 yellow nail syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
DOID:0050469 Costello syndrome
DOID:0050470 Donohue Syndrome
DOID:0050471 Carney complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
DOID:0050472 monilethrix
DOID:0050473 Alstrom syndrome An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
DOID:0050474 Netherton syndrome
DOID:0050475 Weill-Marchesani syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
DOID:0050476 Barth syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
DOID:0050477 Liddle syndrome
DOID:0050480 epidemic typhus A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
DOID:0050481 endemic typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
DOID:0050484 aneruptive fever A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
DOID:0050485 sennetsu fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
DOID:0050486 exanthem
DOID:0050487 bacterial exanthem
DOID:0050488 early congenital syphilis A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
DOID:0050489 multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland.
DOID:0050490 parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
DOID:0050491 meningovascular neurosyphilis A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
DOID:0050495 exanthema subitum A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
DOID:0050508 variola major A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
DOID:0050513 spinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
DOID:0050514 bulbospinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
DOID:0050515 paralytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
DOID:0050516 O'nyong'nyong fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
DOID:0050517 Barmah Forest virus disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
DOID:0050518 Ross River fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
DOID:0050521 Oropouche fever A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
DOID:0050522 Balkan hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
DOID:0050523 adult T-cell leukemia A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
DOID:0050524 maturity-onset diabetes of the young A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
DOID:0050527 familial hypertriglyceridemia A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
DOID:0050528 nonphotosensitive trichothiodystrophy
DOID:0050529 adult spinal muscular atrophy
DOID:0050530 intermediate spinal muscular atrophy
DOID:0050534 congenital stationary night blindness A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
DOID:0050535 exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
DOID:0050536 SC phocomelia syndrome
DOID:0050537 posterior polar cataract
DOID:0050538 Charcot-Marie-Tooth disease type 1
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050540 Charcot-Marie-Tooth disease type 3
DOID:0050541 Charcot-Marie-Tooth disease type 4
DOID:0050542 Charcot-Marie-Tooth disease type X
DOID:0050543 Charcot-Marie-Tooth disease intermediate type
DOID:0050544 hypermethioninemia An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
DOID:0050545 visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
DOID:0050546 congenital adrenal insufficiency
DOID:0050547 familial medullary thyroid carcinoma
DOID:0050548 hereditary sensory neuropathy
DOID:0050549 Saldino-Noonan syndrome
DOID:0050552 Sugio-Kajii syndrome An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
DOID:0050553 JMP syndrome An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
DOID:0050554 X-linked sideroblastic anemia with ataxia
DOID:0050556 infantile onset spinocerebellar ataxia
DOID:0050557 congenital muscular dystrophy A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
DOID:0050558 Ullrich congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050561 Lennox-Gastaut syndrome
DOID:0050562 West syndrome
DOID:0050563 nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
DOID:0050564 autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
DOID:0050565 autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
DOID:0050566 X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode.
DOID:0050567 orofacial cleft
DOID:0050568 spondylocostal dysostosis A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
DOID:0050569 Seckel syndrome An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
DOID:0050570 congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
DOID:0050571 congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
DOID:0050572 cone-rod dystrophy A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
DOID:0050573 2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
DOID:0050574 L-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
DOID:0050575 D-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
DOID:0050576 Senior-Loken syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
DOID:0050577 Sensenbrenner syndrome
DOID:0050578 occult macular dystrophy A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
DOID:0050579 glycogen storage disease XV
DOID:0050580 hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
DOID:0050581 brachydactyly A bone development disease characterized by short fingers and toes.
DOID:0050582 distal hereditary motor neuropathy
DOID:0050584 gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
DOID:0050585 congenital generalized lipodystrophy
DOID:0050587 trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair.
DOID:0050588 muscular dystrophy-dystroglycanopathy
DOID:0050589 inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract.
DOID:0050590 severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
DOID:0050591 tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth.
DOID:0050592 asphyxiating thoracic dystrophy
DOID:0050593 primary congenital glaucoma
DOID:0050594 glycogen storage disease IX
DOID:0050596 taeniasis A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat.
DOID:0050597 intestinal schistosomiasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung.
DOID:0050599 abdominal tuberculosis An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
DOID:0050600 ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
DOID:0050601 ADULT syndrome An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
DOID:0050602 triple-A syndrome
DOID:0050603 acheiropody
DOID:0050604 acrocapitofemoral dysplasia
DOID:0050605 acrodermatitis enteropathica
DOID:0050606 acrokeratosis verruciformis
DOID:0050608 Askin's tumor
DOID:0050610 oral cavity carcinoma in situ
DOID:0050611 pharynx carcinoma in situ
DOID:0050612 gall bladder carcinoma in situ
DOID:0050613 bile duct carcinoma in situ
DOID:0050614 bronchus carcinoma in situ
DOID:0050615 respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
DOID:0050616 malignant Leydig cell tumor
DOID:0050617 malignant Sertoli cell tumor
DOID:0050618 malignant Sertoli-Leydig cell tumor
DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses.
DOID:0050620 infiltrating renal pelvis transitional cell carcinoma
DOID:0050621 respiratory system benign neoplasm An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs.
DOID:0050623 bladder benign neoplasm
DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs.
DOID:0050625 biliary tract neoplasm A hepatobiliary benign neoplasm located_in the biliary tract.
DOID:0050626 gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
DOID:0050628 advanced sleep phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
DOID:0050629 Aicardi-Goutieres syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
DOID:0050630 Aland Island eye disease
DOID:0050631 Allan-Herndon-Dudley syndrome An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
DOID:0050632 oculocutaneous albinism An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
DOID:0050633 ocular albinism
DOID:0050634 alopecia universalis
DOID:0050635 alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
DOID:0050636 familial visceral amyloidosis
DOID:0050637 Finnish type amyloidosis
DOID:0050638 transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
DOID:0050639 primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
DOID:0050640 anauxetic dysplasia
DOID:0050641 Rh deficiency syndrome
DOID:0050642 hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells.
DOID:0050643 anonychia congenita
DOID:0050644 arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
DOID:0050645 arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
DOID:0050646 distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet.
DOID:0050647 Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
DOID:0050648 atelosteogenesis
DOID:0050649 atransferrinemia
DOID:0050650 familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
DOID:0050651 atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
DOID:0050654 Baller-Gerold syndrome
DOID:0050655 Bamforth-Lazarus syndrome
DOID:0050656 pseudo-TORCH syndrome
DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
DOID:0050658 Bart-Pumphrey syndrome
DOID:0050659 biotin-responsive basal ganglia disease
DOID:0050660 Beare-Stevenson cutis gyrata syndrome
DOID:0050661 vitelliform macular dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
DOID:0050662 bestrophinopathy
DOID:0050663 Bethlem myopathy
DOID:0050664 Bietti crystalline corneoretinal dystrophy
DOID:0050665 fetal alcohol syndrome A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
DOID:0050666 partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
DOID:0050667 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.
DOID:0050668 alcohol-related birth defect A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
DOID:0050669 spastic cerebral palsy A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
DOID:0050670 ataxic cerebral palsy A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
DOID:0050671 female breast cancer
DOID:0050672 dyskinetic cerebral palsy A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
DOID:0050673 mixed cerebral palsy A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
DOID:0050674 congenital bile acid synthesis defect
DOID:0050675 Birk-Barel syndrome
DOID:0050676 Birt-Hogg-Dube syndrome
DOID:0050677 Bjornstad syndrome
DOID:0050678 Blau syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
DOID:0050679 blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
DOID:0050680 Boomerang dysplasia
DOID:0050681 Borjeson-Forssman-Lehmann syndrome An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
DOID:0050682 Athabaskan brainstem dysgenesis syndrome
DOID:0050683 Bothnia retinal dystrophy
DOID:0050684 Bowen-Conradi syndrome
DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in.
DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived.
DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine.
DOID:0050689 brachydactyly-syndactyly syndrome
DOID:0050690 brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
DOID:0050691 branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
DOID:0050692 Brody myopathy
DOID:0050693 Brooke-Spiegler syndrome
DOID:0050694 Brown-Vialetto-Van Laere syndrome
DOID:0050695 malignant pleural solitary fibrous tumor
DOID:0050696 fetal alcohol spectrum disorder A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
DOID:0050697 chorioamnionitis A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
DOID:0050698 funisitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
DOID:0050699 Dent disease A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
DOID:0050700 cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
DOID:0050701 electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
DOID:0050702 neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
DOID:0050703 infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
DOID:0050704 childhood electroclinical syndrome An electroclinical syndrome with onset in childhood between one and 12 years of age.
DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood.
DOID:0050706 variable age at onset electroclinical syndrome
DOID:0050708 early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
DOID:0050709 Ohtahara syndrome A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
DOID:0050710 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.
DOID:0050711 aceruloplasminemia An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
DOID:0050712 AGAT deficiency 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.
DOID:0050713 fatal infantile encephalocardiomyopathy A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
DOID:0050715 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.
DOID:0050716 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.
DOID:0050717 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).
DOID:0050718 vitamin metabolic disorder An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
DOID:0050719 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.
DOID:0050720 ornithine translocase deficiency An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
DOID:0050721 serine deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
DOID:0050722 PHGDH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
DOID:0050723 PSAT 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.
DOID:0050724 PSPH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
DOID:0050725 tyrosinemia type II A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
DOID:0050726 tyrosinemia type I A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
DOID:0050727 tyrosinemia type III A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
DOID:0050728 glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
DOID:0050729 neutral lipid storage disease A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
DOID:0050730 coenzyme Q10 deficiency disease A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
DOID:0050731 vitamin B12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12.
DOID:0050732 methylmalonic aciduria and homocystinuria type cblE
DOID:0050733 methylmalonic aciduria and homocystinuria type cblG
DOID:0050734 congenital intrinsic factor deficiency A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
DOID:0050735 X-linked disease A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050737 autosomal recessive 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.
DOID:0050738 Y-linked disease A monogenic disease that has_material_basis_in muations on the Y chromosome.
DOID:0050739 autosomal genetic disease A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050740 Qazi Markouizos syndrome A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
DOID:0050741 alcohol dependence
DOID:0050742 nicotine dependence
DOID:0050743 mature T-cell and NK-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells.
DOID:0050745 diffuse large B-cell lymphoma A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
DOID:0050746 mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
DOID:0050747 lymphoplasmacytic lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
DOID:0050748 marginal zone B-cell lymphoma A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
DOID:0050749 peripheral T-cell lymphoma A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
DOID:0050750 splenic marginal zone lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
DOID:0050751 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.
DOID:0050752 amyotrophic lateral sclerosis type 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
DOID:0050753 cerebellar ataxia A cerebellar disease characterized by ataxia originating in the cerebellum.
DOID:0050754 ataxia with oculomotor apraxia type 1
DOID:0050755 ataxia with oculomotor apraxia type 2
DOID:0050756 Batten disease
DOID:0050757 deafness dystonia syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
DOID:0050758 metabolic acidosis A lactic acidosis that has_material_basis_in high levels of acid.
DOID:0050759 myotonic dystrophy type 2 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
DOID:0050760 X-linked myopathy with excessive autophagy
DOID:0050761 paramyloidosis
DOID:0050762 adenylosuccinase lyase deficiency
DOID:0050763 ARC syndrome 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.
DOID:0050764 Armfield syndrome
DOID:0050765 neuroacanthocytosis
DOID:0050766 chorea-acanthocytosis
DOID:0050767 midface dysplasia
DOID:0050768 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.
DOID:0050769 N syndrome
DOID:0050770 polycystic liver disease
DOID:0050771 phaeochromocytoma
DOID:0050773 paraganglioma
DOID:0050774 rapadilino syndrome
DOID:0050775 schneckenbecken dysplasia
DOID:0050776 non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
DOID:0050777 Joubert syndrome An autosomal recessive disease 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 resulting from dysfunction of ciliary proteins (ciliopathy).
DOID:0050778 Meckel syndrome An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis.
DOID:0050779 hydrolethalus syndrome An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
DOID:0050780 Opitz-GBBB syndrome A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
DOID:0050781 Ogden syndrome An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
DOID:0050782 Zollinger-Ellison 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.
DOID:0050783 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.
DOID:0050784 primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
DOID:0050785 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.
DOID:0050786 iridogoniodysgenesis syndrome An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
DOID:0050787 juvenile polyposis syndrome An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
DOID:0050788 proximal symphalangism An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
DOID:0050789 tarsal-carpal coalition syndrome An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
DOID:0050790 fibular hypoplasia and complex brachydactyly An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
DOID:0050791 persistent mullerian duct syndrome A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
DOID:0050792 multiple cutaneous and mucosal venous malformations An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
DOID:0050793 short QT syndrome An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
DOID:0050794 multiple synostoses syndrome A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
DOID:0050795 cone dystrophy A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
DOID:0050796 achalasia microcephaly syndrome An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
DOID:0050797 peroxisomal acyl-CoA oxidase deficiency A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
DOID:0050798 cerebral creatine deficiency syndrome
DOID:0050799 guanidinoacetate methyltransferase deficiency
DOID:0050800 creatine transporter deficiency
DOID:0050801 androgenic alopecia
DOID:0050802 Ehlers-Danlos syndrome progeroid type An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
DOID:0050803 glioblastoma classical subtype A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
DOID:0050804 glioblastoma proneural subtype A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
DOID:0050805 glioblastoma mesenchymal subtype A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
DOID:0050806 glioblastoma neural subtype A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
DOID:0050807 Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
DOID:0050809 mucopolysaccharidosis IX A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
DOID:0050810 biotin deficiency 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.
DOID:0050811 congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
DOID:0050812 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.
DOID:0050813 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.
DOID:0050814 temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
DOID:0050815 eye adnexa disease An eye and adnexa disease that is located_in the adnexa of the eye.
DOID:0050816 urofacial syndrome An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
DOID:0050817 Stargardt disease An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
DOID:0050818 transcobalamin II deficiency A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
DOID:0050819 Matthew-Wood syndrome An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
DOID:0050820 atrioventricular block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
DOID:0050821 first-degree atrioventricular block
DOID:0050822 second-degree atrioventricular block
DOID:0050823 third-degree atrioventricular block
DOID:0050824 sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
DOID:0050825 endocardium disease A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
DOID:0050826 tricuspid valve disease
DOID:0050827 rheumatic heart disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
DOID:0050828 artery disease A vascular disease that is located_in an artery.
DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
DOID:0050830 peripheral artery disease An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
DOID:0050831 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.
DOID:0050832 pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
DOID:0050833 orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
DOID:0050834 CHARGE syndrome A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
DOID:0050835 generalized dystonia A dystonia that affects most or all of the body.
DOID:0050836 focal dystonia A dystonia that is localized to a specific part of the body.
DOID:0050837 multifocal dystonia A dystonia that involves two or more unrelated body parts.
DOID:0050838 segmental dystonia A dystonia that affects two or more adjacent parts of the body.
DOID:0050839 anismus
DOID:0050840 cervical dystonia A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
DOID:0050841 focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
DOID:0050842 oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
DOID:0050843 oromandibular dystonia A focal dystonia that is characterized by distortions of the mouth and tongue.
DOID:0050844 spasmodic dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
DOID:0050845 cranio-facial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
DOID:0050846 hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body.
DOID:0050847 sleep apnea A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
DOID:0050848 obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
DOID:0050849 periampullary adenoma
DOID:0050850 diabetic encephalopathy
DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
DOID:0050852 limb ischemia
DOID:0050853 chronic venous insufficiency
DOID:0050854 Muckle-Wells syndrome
DOID:0050855 renal fibrosis
DOID:0050856 oppositional defiant disorder
DOID:0050857 Perrault syndrome An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
DOID:0050858 Marshall-Smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
DOID:0050859 hemorrhagic cystitis
DOID:0050860 colorectal adenoma
DOID:0050861 colorectal adenocarcinoma A colorectal cancer that derives_from epithelial cells of glandular origin.
DOID:0050862 pyometritis
DOID:0050863 arteritic anterior ischemic optic neuropathy
DOID:0050864 non-arteritic anterior ischemic optic neuropathy
DOID:0050865 tongue squamous cell carcinoma A tongue cancer that is located_in the squamous cells of the tongue.
DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells.
DOID:0050867 Jensen syndrome A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
DOID:0050868 hepatocellular adenoma
DOID:0050869 villous adenoma
DOID:0050870 in situ pulmonary adenocarcinoma A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
DOID:0050871 fibroma
DOID:0050872 large cell neuroendocrine carcinoma
DOID:0050873 follicular lymphoma A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
DOID:0050875 small cell neuroendocrine carcinoma
DOID:0050876 Caroli disease A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
DOID:0050877 pancreatic agenesis A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
DOID:0050879 fragile X-associated tremor/ataxia syndrome A neurodegenerative disease that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
DOID:0050880 Koolen de Vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
DOID:0050881 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).
DOID:0050882 spinocerebellar ataxia type 5 A spinocerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene.
DOID:0050883 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.
DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
DOID:0050885 IMAGe syndrome A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene.
DOID:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
DOID:0050887 Townes-Brocks syndrome An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
DOID:0050889 non-syndromic intellectual disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex.
DOID:0050892 adrenal gland pheochromocytoma An adrenal medulla cancer that is characterized by overproduction of adrenaline.
DOID:0050893 gallbladder adenoma A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
DOID:0050894 ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells.
DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone.
DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
DOID:0050899 brain stem medulloblastoma A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum.
DOID:0050901 corpus callosum oligodendroglioma A brain oligodendroglioma located_in the corpus callosum.
DOID:0050902 medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
DOID:0050904 salivary gland carcinoma A salivary gland cancer that has_material_basis_in epithelial cells.
DOID:0050905 inflammatory myofibroblastic tumor A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
DOID:0050906 conjunctival nevus A sensory organ benign neoplasm that is located in the eye conjunctiva.
DOID:0050907 mixed extragonadal germ cell cancer A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
DOID:0050908 myelodysplastic syndrome A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
DOID:0050909 MALT lymphoma A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
DOID:0050911 appendix carcinoid tumor An appendix cancer that has_material_basis_in neurodendocrine cells.
DOID:0050912 colon adenoma A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
DOID:0050914 large intestine adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
DOID:0050915 rectum adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum.
DOID:0050916 bronchus mucoepidermoid carcinoma A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells.
DOID:0050917 lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells.
DOID:0050919 trachea mucoepidermoid carcinoma A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells.
DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells.
DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells.
DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells.
DOID:0050923 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.
DOID:0050924 striated muscle rhabdoid tumor A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
DOID:0050925 small intestine carcinoid neuroendocrine tumor A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
DOID:0050926 jejunal adenocarcinoma A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
DOID:0050928 ovarian melanoma An ovarian cancer that has_material_basis_in melanoctyes.
DOID:0050929 mucosal melanoma A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
DOID:0050930 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.
DOID:0050931 parotid gland adenoid cystic carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
DOID:0050932 lung mucoepidermoid carcinoma A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells.
DOID:0050933 ovarian serous carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
DOID:0050934 ovarian clear cell carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
DOID:0050935 cervical neuroblastoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
DOID:0050936 extra-adrenal pheochromocytoma An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
DOID:0050937 retroperitoneal neuroblastoma A retroperitoneal cancer that has_material_basis_in immature nerve cells.
DOID:0050938 breast lobular carcinoma A breast carcinoma that derives_from breast lobules (milk glands).
DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derived_from the inner lining of the uterus.
DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin.
DOID:0060000 infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
DOID:0060001 withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
DOID:0060002 C1 inhibitor deficiency A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
DOID:0060004 autoimmune disease of central nervous system An autoimmune disease of the central nervous system.
DOID:0060005 autoimmune disease of endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
DOID:0060006 artemis deficiency A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
DOID:0060007 CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells.
DOID:0060008 janus kinase-3 deficiency
DOID:0060009 MHC class I deficiency
DOID:0060010 Omenn syndrome A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
DOID:0060011 recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
DOID:0060012 recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
DOID:0060013 gamma chain deficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
DOID:0060014 CD45 deficiency A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
DOID:0060015 interleukin-7 receptor alpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
DOID:0060016 CD3delta deficiency A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
DOID:0060017 CD3epsilon deficiency A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
DOID:0060018 CD3gamma deficiency A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
DOID:0060019 coronin-1A deficiency A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
DOID:0060020 reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
DOID:0060021 DNA ligase IV deficiency A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
DOID:0060022 CD40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
DOID:0060023 CD40 deficiency A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
DOID:0060024 lambda 5 deficiency A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
DOID:0060025 immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
DOID:0060026 immunoglobulin beta deficiency
DOID:0060027 B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
DOID:0060028 Good syndrome An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
DOID:0060029 autoimmune disease of exocrine system An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
DOID:0060030 autoimmune disease of eyes, ear, nose and throat A hypersensitivity reaction type II disease of the eyes, ears, nose and throat.
DOID:0060031 autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
DOID:0060033 autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
DOID:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
DOID:0060039 autoimmune disease of skin and connective tissue A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
DOID:0060040 pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
DOID:0060041 autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
DOID:0060042 atypical autism An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
DOID:0060043 sexual disorder A disease of mental health that involves the impairment in normal sexual functioning.
DOID:0060044 paraphilia disorder
DOID:0060045 Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
DOID:0060046 aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
DOID:0060047 writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
DOID:0060048 nosophobia A specific phobia that involves an irrational fear of contracting a disease.
DOID:0060049 autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
DOID:0060050 autoimmune disease of blood A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
DOID:0060051 autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
DOID:0060053 peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system.
DOID:0060054 autonomic peripheral neuropathy
DOID:0060055 popliteal pterygium syndrome
DOID:0060056 hypersensitivity reaction disease An immune system disease that is caused by abnormal immune responses.
DOID:0060057 gluten allergic reaction
DOID:0060058 lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
DOID:0060060 non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
DOID:0060061 cutaneous T cell lymphoma A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
DOID:0060062 familial juvenile hyperuricemic nephropathy A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
DOID:0060063 X-linked sideroblastic anemia
DOID:0060064 sideroblastic anemia with spinocerebellar ataxia
DOID:0060065 pyridoxine-refractory autosomal recessive sideroblastic anemia
DOID:0060066 pyridoxine-responsive sideroblastic anemia
DOID:0060067 Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
DOID:0060068 marantic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
DOID:0060071 pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
DOID:0060073 lymphatic system cancer An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
DOID:0060074 ductal carcinoma in situ
DOID:0060075 estrogen-receptor positive breast cancer
DOID:0060076 estrogen-receptor negative breast cancer
DOID:0060077 progesterone-receptor positive breast cancer
DOID:0060078 progesterone-receptor negative breast cancer
DOID:0060079 Her2-receptor positive breast cancer
DOID:0060080 Her2-receptor negative breast cancer
DOID:0060081 triple-receptor negative breast cancer
DOID:0060082 breast benign neoplasm
DOID:0060083 immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from.
DOID:0060086 female reproductive organ benign neoplasm
DOID:0060087 male reproductive organ benign neoplasm
DOID:0060088 vestibular gland benign neoplasm
DOID:0060089 endocrine 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.
DOID:0060090 central nervous system organ benign neoplasm
DOID:0060091 cardiovascular organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs.
DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone.
DOID:0060095 uterine benign neoplasm
DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ.
DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity.
DOID:0060098 osteoblastoma
DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs.
DOID:0060100 musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
DOID:0060101 benign glioma A cell type benign neoplasm that has_material_basis_in glial cells.
DOID:0060102 cartilage cancer
DOID:0060103 central nervous system primitive neuroectodermal neoplasm
DOID:0060104 cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
DOID:0060105 brain medulloblastoma A brain cancer that is located_in the lower part of the brain on the floor of the skull.
DOID:0060106 brain meningioma
DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells.
DOID:0060109 vulvar benign neoplasm
DOID:0060110 cervical benign neoplasm
DOID:0060111 fallopian tube benign neoplasm
DOID:0060112 ovarian benign neoplasm
DOID:0060114 vaginal benign neoplasm
DOID:0060115 nervous system benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:0060116 sensory system cancer A nervous system cancer that is located_in the sensory system.
DOID:0060117 peritoneal benign neoplasm An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity.
DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx.
DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs.
DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails.
DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue.
DOID:0060125 heavy chain disease A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
DOID:0060126 alpha chain disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
DOID:0060127 gamma heavy chain disease A heavy chain disease that results from an overproduction of gamma antibody (IgG).
DOID:0060128 mu chain disease A heavy chain disease that results from an overproduction of mu antibody (IgM).
DOID:0060129 delta chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD).
DOID:0060130 akinetopsia An agnosia that is a loss of motion perception.
DOID:0060131 alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions.
DOID:0060132 amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
DOID:0060133 anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
DOID:0060134 apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes.
DOID:0060135 apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
DOID:0060136 associative agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
DOID:0060137 auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
DOID:0060138 autotopagnosia An agnosia that is a loss of the ability to orient parts of the body.
DOID:0060139 color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
DOID:0060140 cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
DOID:0060141 finger agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand.
DOID:0060142 form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
DOID:0060143 integrative agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
DOID:0060144 mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
DOID:0060145 pain agnosia An agnosia that is a loss of the ability to perceive and process pain.
DOID:0060146 phonagnosia An agnosia that is a loss of the ability to recognize familiar voices.
DOID:0060147 semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
DOID:0060148 simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
DOID:0060149 social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
DOID:0060150 astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
DOID:0060151 tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
DOID:0060152 time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events.
DOID:0060153 topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
DOID:0060154 verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
DOID:0060155 visual agnosia An agnosia that is a loss of the ability to visually recognize objects.
DOID:0060156 visual verbal agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words.
DOID:0060157 diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp.
DOID:0060158 acquired metabolic disease A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
DOID:0060159 organic acidemia An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
DOID:0060160 survival motor neuron spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein.
DOID:0060161 Kennedy's disease A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor.
DOID:0060162 dentatorubral-pallidoluysian atrophy A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
DOID:0060163 body dysmorphic disorder A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
DOID:0060164 pain disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
DOID:0060165 Kleine-Levin syndrome A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
DOID:0060166 bipolar ll disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
DOID:0060167 seasonal affective disorder A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
DOID:0060168 histidinemia A histidine metabolism disease that involves a deficiency of the enzyme histidase.
DOID:0060169 benign familial infantile epilepsy An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
DOID:0060170 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.
DOID:0060171 Dravet Syndrome An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
DOID:0060172 juvenile absence epilepsy An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
DOID:0060173 Timothy syndrome An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
DOID:0060174 GABA aminotransferase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
DOID:0060175 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.
DOID:0060176 gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
DOID:0060177 homocarnosinosis A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
DOID:0060178 familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon.
DOID:0060181 ischemic colitis A colitis caused_by inadequate blood supply to the colon.
DOID:0060182 microscopic colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
DOID:0060183 collagenous colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table.
DOID:0060184 lymphocytic colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
DOID:0060185 Clostridium difficile colitis A colitis characterized by an overgrowth of Clostridium difficile bacteria.
DOID:0060186 chemical colitis A colitis caused_by introduction of various chemicals.
DOID:0060187 diversion colitis A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
DOID:0060188 jejunoileitis An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
DOID:0060189 ileitis An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
DOID:0060190 ileocolitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
DOID:0060191 gastroduodenal Crohn's disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
DOID:0060192 Crohn's colitis An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
DOID:0060193 amyotrophic lateral sclerosis type 1 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
DOID:0060194 amyotrophic lateral sclerosis type 2 A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
DOID:0060195 amyotrophic lateral sclerosis type 3 A type of ALS with loci associated with the disease located_in chromosome 18.
DOID:0060196 amyotrophic lateral sclerosis type 4 A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
DOID:0060197 amyotrophic lateral sclerosis type 5 A type of ALS with juvenile onset with loci associated with the disease located_in chromosome 15.
DOID:0060198 amyotrophic lateral sclerosis type 6 A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
DOID:0060199 amyotrophic lateral sclerosis type 7 A type of ALS with loci associated with the disease located_in chromosome 20.
DOID:0060200 amyotrophic lateral sclerosis type 9 A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
DOID:0060201 amyotrophic lateral sclerosis type 10 A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
DOID:0060202 amyotrophic lateral sclerosis type 11 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
DOID:0060203 amyotrophic lateral sclerosis type 12 A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
DOID:0060204 amyotrophic lateral sclerosis type 13 A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility.
DOID:0060205 amyotrophic lateral sclerosis type 14 A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9.
DOID:0060206 amyotrophic lateral sclerosis type 15 A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
DOID:0060207 amyotrophic lateral sclerosis type 16 A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9.
DOID:0060208 amyotrophic lateral sclerosis type 17 A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
DOID:0060209 amyotrophic lateral sclerosis type 18 A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
DOID:0060210 amyotrophic lateral sclerosis type 19 A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
DOID:0060211 amyotrophic lateral sclerosis type 20 A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
DOID:0060212 amyotrophic lateral sclerosis type 21 A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5.
DOID:0060213 FTDALS1 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.
DOID:0060214 FTDALS2 A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
DOID:0060215 Balo concentric sclerosis A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers.
DOID:0060216 Cogan syndrome A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
DOID:0060217 Cogan-Reese syndrome A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
DOID:0060219 lymph node adenoid cystic carcinoma A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
DOID:0060220 physical urticaria An urticaria induced by external physical influences.
DOID:0060221 Maffucci syndrome A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
DOID:0060222 Scheie syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
DOID:0060223 agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
DOID:0060224 atrial fibrillation 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.
DOID:0060225 3MC syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
DOID:0060226 acrofrontofacionasal dysostosis 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.
DOID:0060227 Adams-Oliver syndrome A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
DOID:0060228 intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
DOID:0060229 Baraitser-Winter syndrome A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
DOID:0060230 basal ganglia calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
DOID:0060231 Bruck syndrome A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
DOID:0060232 branchiootic syndrome 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.
DOID:0060233 cardiofaciocutaneous 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.
DOID:0060234 Carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
DOID:0060235 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.
DOID:0060236 xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
DOID:0060237 Warburg micro syndrome An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
DOID:0060238 Van Maldergem syndrome A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
DOID:0060239 Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
DOID:0060240 UV-sensitive syndrome An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
DOID:0060241 3-M syndrome An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
DOID:0060242 synpolydactyly A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
DOID:0060243 stuttering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
DOID:0060244 specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
DOID:0060245 Mast syndrome A hereditary spastic paraplegia associated with dementia.
DOID:0060246 MASA syndrome An X-linked disease 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.
DOID:0060247 Smith-McCort dysplasia An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
DOID:0060248 Simpson-Golabi-Behmel syndrome An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
DOID:0060249 scoliosis A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
DOID:0060250 idiopathic scoliosis A scoliosis with no known cause.
DOID:0060251 sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
DOID:0060252 sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
DOID:0060253 scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
DOID:0060254 Robinow syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
DOID:0060255 rippling muscle disease A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.
DOID:0060256 Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
DOID:0060257 dyschromatosis symmetrica hereditaria A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
DOID:0060258 reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
DOID:0060259 renal-hepatic-pancreatic dysplasia A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
DOID:0060260 ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid.
DOID:0060261 congenital ptosis A ptosis characterized by eyelid drop present at birth.
DOID:0060262 gallbladder disease A gastrointestinal system disease that is located_in the gallbladder.
DOID:0060263 porencephaly
DOID:0060264 pontocerebellar hypoplasia
DOID:0060265 pontocerebellar hypoplasia type 1A
DOID:0060266 pontocerebellar hypoplasia type 1B
DOID:0060267 pontocerebellar hypoplasia type 2A
DOID:0060268 pontocerebellar hypoplasia type 2B
DOID:0060269 pontocerebellar hypoplasia type 2C
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060271 pontocerebellar hypoplasia type 2E
DOID:0060272 pontocerebellar hypoplasia type 3
DOID:0060273 pontocerebellar hypoplasia type 4
DOID:0060274 pontocerebellar hypoplasia type 5
DOID:0060275 pontocerebellar hypoplasia type 6
DOID:0060276 pontocerebellar hypoplasia type 7
DOID:0060277 pontocerebellar hypoplasia type 8
DOID:0060278 pontocerebellar hypoplasia type 9
DOID:0060279 pontocerebellar hypoplasia type 10
DOID:0060280 primary pigmented nodular adrenocortical disease An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
DOID:0060281 photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
DOID:0060282 persistent hyperplastic primary vitreous
DOID:0060283 peeling skin syndrome
DOID:0060284 paroxysmal nocturnal hemoglobinuria
DOID:0060285 parietal foramina
DOID:0060286 combined oxidative phosphorylation deficiency
DOID:0060287 cornea plana
DOID:0060288 omodysplasia
DOID:0060289 Ohdo syndrome A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type
DOID:0060291 oculodentodigital dysplasia
DOID:0060292 X-linked chondrodysplasia punctata
DOID:0060293 autosomal dominant chondrodysplasia punctata
DOID:0060294 cold-induced sweating syndrome 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.
DOID:0060295 complement component 2 deficiency
DOID:0060296 congenital secretory chloride diarrhea 1 A secretory diarrhea caused_by mutation in the SLC26A3 gene.
DOID:0060297 complement component 4a deficiency
DOID:0060298 complement component 4b deficiency
DOID:0060299 complement component 6 deficiency
DOID:0060300 complement component 7 deficiency
DOID:0060301 type I complement component 8 deficiency
DOID:0060302 type II complement component 8 deficiency
DOID:0060303 complement component 9 deficiency
DOID:0060304 dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
DOID:0060305 megalocornea A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene.
DOID:0060306 Meier-Gorlin syndrome An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
DOID:0060307 autosomal dominant non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
DOID:0060308 autosomal recessive non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.
DOID:0060309 syndromic X-linked intellectual disability A syndromic intellectual characterized by an X-linked inheritance pattern.
DOID:0060310 uvulitis An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
DOID:0060311 adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
DOID:0060312 angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth.
DOID:0060313 tracheomalacia A tracheal disease characterized by flaccidity of the tracheal support cartilage.
DOID:0060314 persistent generalized lymphadenopathy A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
DOID:0060315 oral hairy leukoplakia A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
DOID:0060316 orofaciodigital syndrome type I An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
DOID:0060317 lung abscess A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
DOID:0060318 acute promyelocytic leukemia An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
DOID:0060319 cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
DOID:0060321 umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
DOID:0060322 mastoiditis A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
DOID:0060323 breast abscess A breast disease characterized by a collection of pus in the breast.
DOID:0060324 dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth.
DOID:0060325 cervical polyp A cervix disease characterized by a benign polyp on the surface of the cervical canal.
DOID:0060326 myelomeningocele A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
DOID:0060327 omphalocele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
DOID:0060328 anal fistula An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
DOID:0060329 ectopic pregnancy A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
DOID:0060330 Rapp-Hodgkin syndrome An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
DOID:0060331 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.
DOID:0060332 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.
DOID:0060333 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.
DOID:0060334 transient neonatal diabetes mellitus A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
DOID:0060335 autosomal dominant sideroblastic anemia A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
DOID:0060336 3-methylglutaconic aciduria
DOID:0060337 CEDNIK syndrome An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
DOID:0060338 parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region.
DOID:0070003 blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
DOID:0070004 myeloma A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles.
DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:0080005 bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone.
DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:0080007 bone deterioration disease A bone structure disease that results_in change or damage of structure located_in bone.
DOID:0080008 ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone.
DOID:0080010 bone structure disease A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
DOID:0080011 bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0080016 spina bifida
DOID:0080018 dysbaric osteonecrosis An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
DOID:0080019 metaphyseal dysplasia An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
DOID:0080020 Jansen's metaphyseal chondrodysplasia A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
DOID:0080021 Schmid metaphyseal chondrodysplasia A metaphyseal dysplasia that results_in dwarfism and bowed legs.
DOID:0080022 McKusick type metaphyseal dysplasia A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
DOID:0080023 Schwachman Diamond type metaphyseal dysplasia
DOID:0080026 otospondylomegaepiphyseal dysplasia An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
DOID:0080027 spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
DOID:0080031 fibrous dysplasia A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
DOID:0080032 craniodiaphyseal dysplasia An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
DOID:0080033 craniometaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
DOID:0080036 SOST-related sclerosing bone dysplasia A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
DOID:0080037 Worth's syndrome A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
DOID:0080038 pycnodysostosis An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
DOID:0080039 axial osteomalacia An osteosclerosis that results_in coarsening located_in trabecular bone.
DOID:0080040 fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
DOID:0080041 hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
DOID:0080043 achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
DOID:0080044 hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
DOID:0080045 Kniest dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
DOID:0080046 Stickler syndrome
DOID:0080047 pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
DOID:0080049 acromesomelic dysplasia An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism.
DOID:0080050 acromesomelic dysplasia, Maroteaux type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
DOID:0080052 acromesomelic dysplasia, Grebe type An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
DOID:0080053 Albright's hereditary osteodystrophy An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
DOID:0080054 achondrogenesis type IA An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
DOID:0080055 achondrogenesis type IB An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
DOID:0080056 achondrogenesis type II An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
DOID:100 intestinal infectious disease An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites.
DOID:10003 sensorineural hearing loss
DOID:10011 thyroid lymphoma
DOID:10016 multiple endocrine neoplasia type 2B An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
DOID:10017 multiple endocrine neoplasia type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
DOID:1002 endometritis
DOID:10020 ampulla of Vater cancer
DOID:10021 duodenum cancer A small intestine cancer that is located_in the beginning section of the small intestine.
DOID:10022 ampulla of vater neoplasm
DOID:10024 migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
DOID:10027 tabes dorsalis A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction.
DOID:1003 pelvic inflammatory disease
DOID:10030 interstitial emphysema
DOID:10031 compensatory emphysema
DOID:10032 hyperlucent lung
DOID:10033 cycloplegia
DOID:10034 eye accommodation disease
DOID:10035 asymptomatic neurosyphilis A tertiary neurosyphilis that results_in mild meningitis.
DOID:10039 late congenital syphilis A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
DOID:10040 malignant eyelid melanoma
DOID:10041 dysplastic nevus syndrome
DOID:10044 balloon cell malignant melanoma
DOID:10047 nodular malignant melanoma A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
DOID:1005 endometrial disease
DOID:10054 skin amelanotic melanoma
DOID:10069 subglottis neoplasm
DOID:10070 larynx leiomyoma
DOID:10071 larynx squamous papilloma
DOID:10073 syphilitic meningitis
DOID:10074 hymenolepiasis A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
DOID:10075 diphyllobothriasis A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
DOID:10079 cysticercosis A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
DOID:10080 sparganosis A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
DOID:10081 syphilitic encephalitis
DOID:10087 gastric leiomyoma
DOID:10095 intracranial abscess
DOID:10112 sleeping sickness A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
DOID:10113 trypanosomiasis A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
DOID:10120 eyelid degenerative disease
DOID:10122 hyperpigmentation of eyelid
DOID:10123 pigmentation disease
DOID:10124 corneal disease
DOID:10125 acute hydrops keratoconus
DOID:10126 keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.