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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:3-Hydroxyacyl-CoA Dehydrogenase Deficiency
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Accession:DOID:9001715 term browser browse the term
Synonyms:exact_synonym: 3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency;   3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency;   DEFICIENCY OF 3-HYDROXYACYL-COA DEHYDROGENASE;   HAD Deficiency;   HADH Deficiency;   HADHSC Deficiency;   L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency;   M-SCHAD Deficiency;   SCHAD Deficiency
 primary_id: MESH:C535310;   RDO:0000351
 alt_id: OMIM:231530
For additional species annotation, visit the Alliance of Genome Resources.



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3-Hydroxyacyl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase ClinVar
OMIM
PMID:16725361 PMID:18414213 PMID:22662265 PMID:25741868 PMID:27104957 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        inherited metabolic disorder 2629
          3-Hydroxyacyl-CoA Dehydrogenase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          inherited metabolic disorder 2629
            3-Hydroxyacyl-CoA Dehydrogenase Deficiency 1
paths to the root