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Metadata
ID DOID:0050588
Name muscular dystrophy-dystroglycanopathy
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.
https://www.omim.org/entry/613155
Xrefs

ICD10CM:G71.2

OMIM:613151

OMIM:613152

OMIM:613155

OMIM:613156

OMIM:615351

OMIM:616094

OMIM:PS613155

ORDO:370953

Subsets

DO_rare_slim

Synonyms

CMD due to dystroglycanopathy [EXACT]

Parent Relationships

is_a congenital muscular dystrophy

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