Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B1

Term ID
DOID:0050588
Synonyms
  • CMD due to dystroglycanopathy
  • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
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
References
Ontology
Human Disease   ( DOID:0050588 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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