nemaline myopathy 7 Disease Ontology Browser

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nemaline myopathy 7 (DOID:0110934)
Alliance: disease page
Synonyms: NEM7; nemaline myopathy 7, autosomal recessive
Alt IDs: OMIM:610687, MESH:C565198
Definition: A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.

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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