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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 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. (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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        alpha-methylacyl-CoA racemase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              alpha-methylacyl-CoA racemase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.