Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital muscular dystrophy-dystroglycanopathy type A10	DOID_0111239	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.]
congenital muscular dystrophy-dystroglycanopathy type A1	DOID_0111237	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.]
congenital muscular dystrophy-dystroglycanopathy type A13	DOID_0111238	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.]
congenital muscular dystrophy-dystroglycanopathy type A12	DOID_0111235	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.]
congenital muscular dystrophy-dystroglycanopathy type A3	DOID_0111236	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.]
congenital muscular dystrophy-dystroglycanopathy A14	DOID_0111233	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.]
congenital muscular dystrophy-dystroglycanopathy A7	DOID_0111234	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.]
abdominal viscera	UBERON_0017672
viscus	UBERON_0002075
pyrimidone	CHEBI_38337	[A pyrimidine carrying one or more oxo substituents.]
centronuclear myopathy 2	DOID_0111220	[An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.]
centronuclear myopathy 6 with fiber-type disproportion	DOID_0111221	[A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1.]
respiratory system artery	UBERON_0003469
Sveinsson chorioretinal atrophy	DOID_0111228	[An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous muation in TEAD1 on 11p15.3.]
muscular dystrophy-dystroglycanopathy	DOID_0050588	[A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.]
X-linked congenital myopathy with fiber-type disproportion	DOID_0111226	[A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.]
chromosome 3-linked frontotemporal dementia	DOID_0111227	[A frontotemporal dementia that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.]
centronuclear myopathy 4	DOID_0111224	[An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.]
centronuclear myopathy X-linked	DOID_0111225	[A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.]
centronuclear myopathy 5	DOID_0111222	[An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.]