Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2U

Term ID
DOID:0110295
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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