alpha-methylacyl-CoA racemase deficiency
Go to external page http://purl.obolibrary.org/obo/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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/11861706 http://purl.obolibrary.org/obo/ECO_0007645 ]
Synonyms: AMACR deficiency