OBO ID: DOID:0110295
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2U Search Ontology:
Synonyms:
  • autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
  • LGMD2U
  • MDDGC7
  • muscular dystrophy limb-girdle type 2U
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/23390185
References:
Ontology: Human Disease   ( DOID:0110295 )
OTHER autosomal recessive limb-girdle muscular dystrophy type 2U PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ISPD Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None