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Summary Literature (0)
DOID:0060602 - alpha-methylacyl-CoA racemase deficiency

Disease Ontology Definition:A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.

Synonyms: AMACR deficiency,

Xenbase Genes : amacr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013681 - alpha-methylacyl-CoA racemase deficiency


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

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