OBO ID: DOID:0110289
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2Y Search Ontology:
Synonyms:
  • autosomal recessive muscular dystrophy due to LAP1B deficiency
  • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
  • LGMD2Y
  • muscular dystrophy with progressive weakness, distal contractures and rigid spine
  • muscular dystrophy, limb-girdle, type 2Y
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. https://www.ncbi.nlm.nih.gov/pubmed/24856141
References:
Ontology: Human Disease   ( DOID:0110289 )
Relationships
is a type of:
OTHER autosomal recessive limb-girdle muscular dystrophy type 2Y PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TOR1AIP1 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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