X-linked congenital myopathy with fiber-type disproportion Disease Ontology Browser

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Disease Ontology Browser

X-linked congenital myopathy with fiber-type disproportion (DOID:0111226)
Alliance: disease page
Synonyms: CFTDX
Alt IDs: OMIM:300580
Definition: A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.

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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