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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 that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: peroxisomal acyl-coenzyme A oxidase;   pseudoneonatal adrenoleukodystrophy;   straight-chain ACYL-COA oxidase deficiency
 broad_synonym: ACOX1-RELATED CONDITION;   ACOX1-RELATED DISORDER
 primary_id: MESH:C536662
 alt_id: OMIM:264470
 xref: GARD:4543;   NCI:C170437;   ORDO:2971


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:264470
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy		 OMIM
CTD
MouseDO
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency 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 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          peroxisomal acyl-CoA oxidase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    X-Linked Intellectual Developmental Disorders 809
                      adrenoleukodystrophy 136
                        peroxisomal acyl-CoA oxidase deficiency 2
paths to the root