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ZIRC
OBO ID: DOID:0110292
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2O Search Ontology:
Synonyms:
  • LGMD2O
  • MDDGC3
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
  • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.https://www.ncbi.nlm.nih.gov/pubmed/18195152
References:
Ontology: Human Disease   (DOID:0110292)
OTHER autosomal recessive limb-girdle muscular dystrophy type 2O PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None