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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
 alt_id: MIM:231530


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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 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: 3-hydroxyacyl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8825408 PMID:16199547 PMID:16725361 PMID:18414213 PMID:19318379 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Sgms2 sphingomyelin synthase 2 ISO ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr 2:219,889,809...219,967,704
Ensembl chr 2:219,893,572...219,967,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          inherited metabolic disorder 6608
            3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3
paths to the root