Human genes for alpha-methylacyl-CoA racemase deficiency
alpha-methylacyl-CoA racemase deficiency [DOID:0060602]
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: alpha-methylacyl-CoA racemase deficiency, alphamethylacylCoA racemase deficiency, alpha-methylacyl-CoA racemase deficiencies, DOID:0060602, AMACR deficiency ...