alpha-methylacyl-CoA racemase deficiency

Term ID

DOID:0060602

Synonyms

• AMACR 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

References

• MESH:C565768
• OMIM:614307

Ontology

Human Disease   ( DOID:0060602 )