OBO ID: DOID:0080093
Term Name: myofibrillar myopathy 2 Search Ontology:
Synonyms:
  • alpha-b crystallinopathy
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. https://www.omim.org/entry/608810
References:
Ontology: Human Disease   ( DOID:0080093 )
OTHER myofibrillar myopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CRYAB Myopathy, myofibrillar, 2 608810
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None