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Summary Literature (0)
DOID:0080090 - reducing body myopathy 1A

Disease Ontology Definition:A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.

Synonyms:

Xenbase Genes : fhl1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019948 - reducing body myopathy


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): myopathy (is_a)