All terms in DOID

Label Id Description
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 type 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 type 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
Erythroparvovirus NCBITaxon_40121
rib endochondral element UBERON_0015019
pyrimidone CHEBI_38337
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 [An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.]
pharyngeal arch artery UBERON_0004363
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 mutation in TEAD1 on 11p15.3.]
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.]
dill food product FOODON_00001811
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 DOID_0111227 [A frontotemporal dementia and/or amyotrophic lateral sclerosis 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.]
septum UBERON_0003037
centronuclear myopathy 1 DOID_0111223 [An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.]