Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
posterior scleritis	DOID_13676
congenital dyserythropoietic anemia type Ia	DOID_0111398	[A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2.]
juvenile amyotrophic lateral sclerosis with dementia	DOID_0110067	[A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.]
congenital dyserythropoietic anemia type III	DOID_0111399	[A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.]
FTDALS3	DOID_0110068	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.]
obsolete drug induced sleep disorder	DOID_8611
obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium	DOID_9940
steroid-induced glaucoma	DOID_9946
constant exophthalmos	DOID_9945
obsolete spontaneous abortion complicated by shock	DOID_8615
obsolete syphilitic episcleritis	DOID_9943
recurrent hypersomnia	DOID_8619	[A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.]
residual stage corticosteroid-induced glaucoma	DOID_9948
Peyronie's disease	DOID_8616
amelogenesis imperfecta type 1A	DOID_0110054	[An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	DOID_0111385	[An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.]
inclusion body myopathy with Paget disease of bone and frontotemporal dementia	DOID_0050881	[A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.]
amelogenesis imperfecta type 3A	DOID_0110055	[An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the FAM83H gene.]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	DOID_0111386	[An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13.]
alcoholic hepatitis	DOID_12351