Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2O

Term ID
DOID:0110292
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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