Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
facial paralysis	DOID_13934
ectodermal dysplasia 5	DOID_0111657	[A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.]
pure hair and nail ectodermal dysplasia	DOID_0111655	[An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.]
hypertrophic cardiomyopathy 20	DOID_0110326	[A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.]
ectodermal dysplasia 4	DOID_0111658	[A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13.]
hypertrophic cardiomyopathy 26	DOID_0110327	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.]
hypertrophic cardiomyopathy 18	DOID_0110324	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.]
ectodermal dysplasia 9	DOID_0111656	[A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13.]
obsolete hypertrophic cardiomyopathy 19	DOID_0110325
rheumatic myocarditis	DOID_8481
obsolete recurrent parathyroid cancer	DOID_7150
ectodermal dysplasia 11A	DOID_0111653	[A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43.]
hypertrophic cardiomyopathy 16	DOID_0110322	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.]
transient retinal arterial occlusion	DOID_8482
hypertrophic cardiomyopathy 17	DOID_0110323	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.]
ectodermal dysplasia 11B	DOID_0111654	[A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43.]
ectodermal dysplasia 15	DOID_0111651	[An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1.]
hypertrophic cardiomyopathy 14	DOID_0110320	[A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.]
hypertrophic cardiomyopathy 15	DOID_0110321	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.]
ectodermal dysplasia 12	DOID_0111652	[A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in KDF1 on chromosome 1p36.11.]