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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: MIM:616034


show annotations for term's descendants           Sort by:
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 5:34,208,195...34,236,074
Ensembl chr 5:29,411,172...29,439,018 		JBrowse link
G Nadk2 NAD kinase 2, mitochondrial ISO ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24847004 PMID:25741868 PMID:27940755 More... NCBI chr 2:58,117,674...58,159,815
Ensembl chr 2:58,117,674...58,159,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    Nutritional and Metabolic Diseases 8548
      disease of metabolism 8548
        lipid metabolism disorder 1909
          2,4-Dienoyl-CoA Reductase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19138
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13713
        genetic disease 13378
          inherited metabolic disorder 6626
            lipid metabolism disorder 1909
              2,4-Dienoyl-CoA Reductase Deficiency 2
paths to the root