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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
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)