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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:2,4-Dienoyl-CoA Reductase Deficiency
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Accession:DOID:9005948 term browser browse the term
Synonyms:exact_synonym: DECRD
 primary_id: MESH:C565624
 alt_id: OMIM:616034
For additional species annotation, visit the Alliance of Genome Resources.


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2,4-Dienoyl-CoA Reductase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Decr1 2,4-dienoyl-CoA reductase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency
CTD
ClinVar
PMID:25526675, PMID:25741868, PMID:28492532 NCBI chr 5:29,573,893...29,601,731
Ensembl chr 5:29,573,898...29,601,748
JBrowse link
G Nadk2 NAD kinase 2, mitochondrial ISO ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency OMIM
ClinVar
PMID:24847004, PMID:25741868, PMID:27940755, PMID:28492532, PMID:29388319 NCBI chr 2:58,462,588...58,504,735
Ensembl chr 2:58,462,588...58,504,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          2,4-Dienoyl-CoA Reductase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              2,4-Dienoyl-CoA Reductase Deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.