Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2I

Term ID
DOID:0110299
Synonyms
  • LGMD2I
  • Limb-girdle muscular dystrophy due to FKRP deficiency
  • MDDGC5
  • muscular dystrophy limb-girdle type 2I
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
  • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. https://www.ncbi.nlm.nih.gov/pubmed/11592034
References
Ontology
Human Disease   ( DOID:0110299 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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