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muscular dystrophy-dystroglycanopathy

Disease Summary
Associated Targets (17)
Tbio

15

Tdark

2


GARD Rare
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0018276:  muscular dystrophy-dystroglycanopathy
GARD:0012584: 
Orphanet:370953: 
UMLS:CN229783: