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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 broad_synonym: ACOX1-RELATED CONDITION
 primary_id: MESH:C536662
 alt_id: OMIM:264470
 xref: NCI:C170437
For additional species annotation, visit the Alliance of Genome Resources.



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peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by OMIM:264470
OMIM
ClinVar
PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:16199547 More... NCBI chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        lipid metabolism disorder 1029
          peroxisomal acyl-CoA oxidase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    syndromic intellectual disability 762
                      Mental Retardation, X-Linked 720
                        adrenoleukodystrophy 94
                          peroxisomal acyl-CoA oxidase deficiency 2
paths to the root