OBO ID: DOID:0050588
Term Name: muscular dystrophy-dystroglycanopathy type B1 Search Ontology:
Synonyms:
  • CMD due to 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
References:
Ontology: Human Disease   (DOID:0050588)
OTHER muscular dystrophy-dystroglycanopathy type B1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155
PHENOTYPE No data available

CITATIONS (3)