Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
generalized epilepsy with febrile seizures plus 7	DOID_0111295	[A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.]
generalized epilepsy with febrile seizures plus 10	DOID_0111296	[A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.]
generalized epilepsy with febrile seizures plus 4	DOID_0111293	[A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24.]
generalized epilepsy with febrile seizures plus 2	DOID_0111294	[A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.]
psoriasis 12	DOID_0111291	[A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114.]
idiopathic generalized epilepsy 10	DOID_0111292	[An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.]
kwashiorkor	DOID_13579	[A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone.]
obsolete ascorbic acid deficiency	DOID_13577
histoplasmosis meningitis	DOID_12246
twin-to-twin transfusion syndrome	DOID_13576
neonatal anemia	DOID_11244
obsolete histoplasmosis endocarditis	DOID_12245	[A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.]
generalized epilepsy with febrile seizures plus 8	DOID_0111299	[A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31.]
non-renal secondary hyperparathyroidism	DOID_13575
susceptibility to migraine with or without aura 6	OMIM_607516
Betapolyomavirus	NCBITaxon_1891714
tuberculous peritonitis	DOID_9801	[A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation.]
obsolete pneumococcal infectious disease	DOID_9805
obsolete pneumococcal peritonitis	DOID_9804	[A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome.]
alveolar periostitis	DOID_13585