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Summary Literature (0)
DOID:0080102 - congenital myopathy 4A

Disease Ontology Definition:A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.

Synonyms: CFTD, congenital fiber-type disproportion,

Xenbase Genes : acta1, myh7, ryr1, tpm3, tpm2, selenon

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000865 - obsolete congenital fiber-type disproportion


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), congenital myopathy (is_a), physical disorder (is_a)