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ONTOLOGY REPORT - ANNOTATIONS


Term:alpha-methylacyl-CoA racemase deficiency
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Accession:DOID:0060602 term browser browse the term
Definition:A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. (DO)
Synonyms:exact_synonym: AMACR Deficiency;   AMACRD
 primary_id: MESH:C565768;   RDO:0014318
 alt_id: OMIM:614307
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alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872

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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        alpha-methylacyl-CoA racemase deficiency 2
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            lipid metabolism disorder 721
              alpha-methylacyl-CoA racemase deficiency 2
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