Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
dilated cardiomyopathy 1T	DOID_0110452	[A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22.]
dilated cardiomyopathy 1EE	DOID_0110453	[A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.]
autosomal recessive nonsyndromic deafness 25	DOID_0110483	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.]
autosomal recessive nonsyndromic deafness 26	DOID_0110484	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31.]
autosomal recessive nonsyndromic deafness 23	DOID_0110481	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.]
autosomal recessive nonsyndromic deafness 24	DOID_0110482	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22.]
autosomal recessive nonsyndromic deafness 22	DOID_0110480	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.]
autosomal recessive nonsyndromic deafness 30	DOID_0110489	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1.]
autosomal recessive nonsyndromic deafness 29	DOID_0110487	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.]
autosomal recessive nonsyndromic deafness 3	DOID_0110488	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.]
autosomal recessive nonsyndromic deafness 27	DOID_0110485	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31.]
autosomal recessive nonsyndromic deafness 28	DOID_0110486	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.]
autosomal recessive nonsyndromic deafness 17	DOID_0110472	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31.]
autosomal recessive nonsyndromic deafness 18A	DOID_0110473	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15.]
susceptibility to sarcoidosis 3	OMIM_612388
autosomal recessive nonsyndromic deafness 15	DOID_0110470	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13.]
susceptibility to sarcoidosis 2	OMIM_612387
autosomal recessive nonsyndromic deafness 16	DOID_0110471	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15.]
autosomal recessive nonsyndromic deafness 20	DOID_0110478	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter.]
autosomal recessive nonsyndromic deafness 21	DOID_0110479	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3.]