OBO ID: DOID:0080309
Term Name: fatal infantile hypertonic myofibrillar myopathy Search Ontology:
Synonyms:
Definition: A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (2)
References:
Ontology: Human Disease   (DOID:0080309)
OTHER fatal infantile hypertonic myofibrillar myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CRYAB Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None