Search Ontology:
Human Disease

fatal infantile hypertonic myofibrillar myopathy

Term ID
DOID:0080309
Synonyms
Definition
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/23995273
References
Ontology
Human Disease   ( DOID:0080309 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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