OBO ID: DOID:0050588
Term Name: muscular dystrophy-dystroglycanopathy 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 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKTN Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
POMK ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 616094
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
PHENOTYPE No data available

CITATIONS (2)