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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
Echinobase Genes
:
b3galnt2,
b4gat1,
crppa,
gmppb,
rxylt1,
pomgnt2
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)