Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Sjogren-Larsson syndrome	DOID_14501	[A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.]
cholesterol ester storage disease	DOID_14502
neuronal ceroid lipofuscinosis	DOID_14503
chromophobe cell	CL_0000641
endocrine cell	CL_0000163
peripheral degeneration of cornea	DOID_14507
epithelial fate stem cell	CL_0000036
Ornithodoros parkeri	NCBITaxon_140564
susceptibility to familial meningioma	OMIM_607174
candidal paronychia	DOID_14512	[A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.]
WAGR syndrome	DOID_14515	[A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.]
obsolete Idiopathic cysts of iris and ciliary body	DOID_14518
capillary leak syndrome	DOID_14400
obsolete cutis marmorata	DOID_14401
critical illness polyneuropathy	DOID_14402
inflammatory and toxic neuropathy	DOID_2537
Chlamydiales	NCBITaxon_51291
pericyte cell	CL_0000669
connective tissue cell	CL_0002320
contractile cell	CL_0000183