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DO Term : alpha-methylacyl-CoA racemase deficiency [DOID:0060602] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C565768,
  • 614307,
  • AMACR deficiency,
  • OMIM:614307
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents