alpha-methylacyl-CoA racemase deficiency (DOID:0060602)
Alliance: disease page
Synonyms: AMACR deficiency
Alt IDs: OMIM:614307, MESH:C565768
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.