fatal infantile hypertonic myofibrillar myopathy Disease Ontology Browser

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fatal infantile hypertonic myofibrillar myopathy (DOID:0080309)
Alliance: disease page
Alt IDs: OMIM:613869
Definition: A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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