Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2S

Term ID
DOID:0110287
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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