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

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

Synonyms: AMACR deficiency,

Echinobase Genes : amacr


OMIM:
MIM:614307 - alpha-methylacyl-coa racemase deficiency; amacrd

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

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