Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pigmented ciliary epithelial cell	CL_0002303
ciliated epithelial cell	CL_0000067
X-linked dilated cardiomyopathy	DOID_0110461	[A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting.]
autosomal recessive nonsyndromic deafness 101	DOID_0110462	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32.]
dilated cardiomyopathy 2A	DOID_0110460	[A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.]
autosomal recessive nonsyndromic deafness 14	DOID_0110469	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31.]
autosomal recessive nonsyndromic deafness 12	DOID_0110467	[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 CDH23 gene on chromosome 10q22.]
autosomal recessive nonsyndromic deafness 13	DOID_0110468	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36.]
autosomal recessive nonsyndromic deafness 104	DOID_0110465	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22.]
obsolete autosomal recessive nonsyndromic deafness 105	DOID_0110466
autosomal recessive nonsyndromic deafness 102	DOID_0110463	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.]
autosomal recessive nonsyndromic deafness 103	DOID_0110464	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.]
dilated cardiomyopathy 1II	DOID_0110450	[A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.]
dilated cardiomyopathy 1O	DOID_0110451	[A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.]
dilated cardiomyopathy 1BB	DOID_0110458	[A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.]
dilated cardiomyopathy 1FF	DOID_0110459	[A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.]
dilated cardiomyopathy 1R	DOID_0110456	[A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.]
dilated cardiomyopathy 1Y	DOID_0110457	[A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1.]
dilated cardiomyopathy 1S	DOID_0110454	[A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.]
dilated cardiomyopathy 1U	DOID_0110455	[A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.]