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ONTOLOGY REPORT - ANNOTATIONS


Term:peroxisomal acyl-CoA oxidase deficiency
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Accession:DOID:0050797 term browser browse the term
Definition:A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. (DO)
Synonyms:exact_synonym: Peroxisomal acyl-coenzyme A oxidase;   Pseudoneonatal adrenoleukodystrophy;   Straight-chain ACYL-COA oxidase deficiency
 primary_id: MESH:C536662
 alt_id: OMIM:264470;   RDO:0002304
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peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          peroxisomal acyl-CoA oxidase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        adrenoleukodystrophy 51
                          peroxisomal acyl-CoA oxidase 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.