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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: MIM: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: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY 		OMIM
CTD
MouseDO
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,905,083...101,930,136 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,874,661...101,900,497
Ensembl chr10:101,874,664...101,900,738 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,735,061...101,746,258 		JBrowse link
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,755,404...101,764,616
Ensembl chr10:101,755,404...101,757,636 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,864,242...101,871,048
Ensembl chr10:101,863,318...101,871,048 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chr10:101,930,212...101,951,932
Ensembl chr10:101,930,222...101,953,979 		JBrowse link
G Trim47 tripartite motif-containing 47 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,836,465...101,840,936
Ensembl chr10:101,836,465...101,840,936 		JBrowse link
G Trim65 tripartite motif-containing 65 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,847,822...101,863,052
Ensembl chr10:101,856,819...101,863,251 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,795,652...101,810,409
Ensembl chr10:101,795,652...101,810,409 		JBrowse link
G Unk unk zinc finger ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,764,732...101,794,847
Ensembl chr10:101,757,648...101,794,845 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,811,308...101,819,766
Ensembl chr10:101,812,321...101,819,770 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          peroxisomal acyl-CoA oxidase deficiency 12
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    X-Linked Intellectual Developmental Disorders 829
                      adrenoleukodystrophy 146
                        peroxisomal acyl-CoA oxidase deficiency 12
paths to the root