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

MIM:

MIM:300717 - REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

MIM:300718 - REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET; RBMX1B

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee