|
DOID:0110635 - muscular dystrophy-dystroglycanopathy type B5
Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Synonyms: FKRP-related congenital muscular dystrophy, MDC1C, MDDGB5, congenital muscular dystrophy 1C, muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 ,
Xenbase Genes : fkrp
MONDO:0011688 - muscular dystrophy-dystroglycanopathy type B5 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
congenital muscular dystrophy (is_a),
muscular dystrophy-dystroglycanopathy type B (is_a)