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Summary Literature (0)
DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1

Disease Ontology Definition: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.

Synonyms: CMD due to dystroglycanopathy, Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1,

Xenbase Genes : gmppb, pomt1, pomgnt2, pomk, b4gat1, rxylt1, b3galnt2, crppa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018276 - muscular dystrophy-dystroglycanopathy


Other Model Organisms: AGR, 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)