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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.