Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Dravet syndrome	DOID_0080422	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.]
early infantile epileptic encephalopathy 40	DOID_0080427	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.]
early infantile epileptic encephalopathy 45	DOID_0080428	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.]
early infantile epileptic encephalopathy 24	DOID_0080429	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.]
susceptibility to anorexia nervosa	OMIM_606788
anorexia nervosa	DOID_8689	[An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.]
extrahepatic bile duct papillary adenoma	DOID_7503	[An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct.]
extrahepatic bile duct adenoma	DOID_5438	[A bile duct ademona that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.]
right lower quadrant pelvic swelling	SYMP_0000796
obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis	DOID_7504
right upper quadrant pelvic swelling	SYMP_0000797
pediatric infratentorial ependymoma	DOID_7501
left upper quadrant pelvic swelling	SYMP_0000794
pediatric supratentorial ependymoma	DOID_7502
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites	DOID_8832
periumbilic pelvic swelling	SYMP_0000795
obsolete herpes zoster keratoconjunctivitis	DOID_8839	[An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain.]
obsolete malformation of placenta	DOID_7507
epigastric pelvic swelling	SYMP_0000792
Hodgkin's lymphoma, nodular sclerosis	DOID_8838