Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
nephronophthisis 2	DOID_0111113	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.]
maturity-onset diabetes of the young type 2	DOID_0111100	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.]
maturity-onset diabetes of the young type 9	DOID_0111107	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.]
maturity-onset diabetes of the young type 10	DOID_0111108	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.]
maturity-onset diabetes of the young type 8	DOID_0111105	[A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.]
maturity-onset diabetes of the young type 7	DOID_0111106	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.]
Yersiniaceae	NCBITaxon_1903411
Enterobacterales	NCBITaxon_91347
maturity-onset diabetes of the young type 4	DOID_0111103	[A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.]
maturity-onset diabetes of the young type 6	DOID_0111104	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.]
maturity-onset diabetes of the young type 5	DOID_0111101	[A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.]
maturity-onset diabetes of the young type 3	DOID_0111102	[A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.]
maturity-onset diabetes of the young type 11	DOID_0111109	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.]
focal segmental glomerulosclerosis 7	DOID_0111132	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31.]
focal segmental glomerulosclerosis 8	DOID_0111133	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2.]
focal segmental glomerulosclerosis 5	DOID_0111130	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33.]
focal segmental glomerulosclerosis 6	DOID_0111131	[A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2.]
congenital generalized lipodystrophy type 4	DOID_0111138	[A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.]
congenital generalized lipodystrophy	DOID_0050585	[A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.]
cleft lip	DOID_9296	[An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.]