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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

OMIM:614307

Synonyms

AMACR deficiency [EXACT]

Parent Relationships

is_a peroxisomal disease

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