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Metadata
ID	DOID:0060602
Name	alpha-methylacyl-CoA racemase 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. https://www.ncbi.nlm.nih.gov/pubmed/11861706
Xrefs	MESH:C565768 MIM:614307
Synonyms	AMACR deficiency [EXACT]
Parent Relationships	is_a peroxisomal disease