OBO ID: DOID:0110287
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2S Search Ontology:
Synonyms:
  • LGMD2S
  • muscular dystrophy, limb-girdle, type 2S
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. https://www.ncbi.nlm.nih.gov/pubmed/23830518
References:
Ontology: Human Disease   ( DOID:0110287 )
OTHER autosomal recessive limb-girdle muscular dystrophy type 2S PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18 615356
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None