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

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:614307
  • MESH:C565768
has obo namespace

disease_ontology

id

DOID:0060602

Term relations

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