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. [ url:https://www.omim.org/entry/613155 http://purl.obolibrary.org/obo/ECO_0007636 ]

This is just here as a test because I lose it

Term information

Subsets

DO_rare_slim

comment

Xref MGI.

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.

has exact synonym

CMD due to dystroglycanopathy

has obo namespace

disease_ontology

id

DOID:0050588