Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lip disease	DOID_9297
congenital generalized lipodystrophy type 2	DOID_0111136	[A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.]
congenital generalized lipodystrophy type 3	DOID_0111137	[A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.]
focal segmental glomerulosclerosis 9	DOID_0111134	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3.]
mesonephric epithelium	UBERON_0005103
congenital generalized lipodystrophy type 1	DOID_0111135	[A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.]
obsolete penile vascular disorder	DOID_9287
priapism	DOID_9286	[A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.]
nephronophthisis 13	DOID_0111121	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.]
nephronophthisis 14	DOID_0111122	[A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.]
skin gland	UBERON_0002419
nephronophthisis 9	DOID_0111120	[A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.]
focal segmental glomerulosclerosis 2	DOID_0111129	[A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1.]
nephronophthisis 20	DOID_0111127	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.]
focal segmental glomerulosclerosis 1	DOID_0111128	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2.]
nephronophthisis 18	DOID_0111125	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.]
nephronophthisis 19	DOID_0111126	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.]
nephronophthisis 15	DOID_0111123	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.]
nephronophthisis 16	DOID_0111124	[A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.]
myocardium cancer	DOID_9299