centronuclear myopathy 6 with fiber-type disproportion Disease Ontology Browser

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Disease Ontology Browser

centronuclear myopathy 6 with fiber-type disproportion (DOID:0111221)
Alliance: disease page
Synonyms: CNM6
Alt IDs: OMIM:617760
Definition: An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.

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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