Term Name:	alpha-methylacyl-CoA racemase deficiency
Synonyms:	AMACR deficiency
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.
Ontology:	Human Disease [DOID:0060602]   ( DOID:0060602 )