Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pedophilia	DOID_13351
obsolete malignant neoplasm of corpus uteri, except isthmus	DOID_12020
progressive familial heart block type IB	DOID_0111076	[A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.]
obsolete gender identity disorder in children	DOID_13350
progressive familial heart block type IA	DOID_0111074	[A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.]
congenital bile acid synthesis defect 1	DOID_0111071	[A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.]
congenital bile acid synthesis defect	DOID_0050674	[A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.]
myostatin-related muscle hypertrophy	DOID_0111072	[A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.]
sympathetic ophthalmia	DOID_12029	[A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.]
panuveitis	DOID_12030	[An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.]
obsolete hereditary inflammatory vasculitis	DOID_14680
Conn's syndrome	DOID_12028	[An adrenal adenoma characterized by the over production of aldosterone.]
adrenal adenoma	DOID_656	[An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.]
Silver-Russell syndrome	DOID_14681	[A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.]
chondromalacia patellae	DOID_13357
chondromalacia	DOID_2557
Binder syndrome	DOID_14683
senile ectropion	DOID_13356
birdshot chorioretinopathy	DOID_0111079	[A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.]
posterior uveitis	DOID_12574