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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-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
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Accession:DOID:9003547 term browser browse the term
Definition:An inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.
Synonyms:exact_synonym: HMGCS2 Deficiency;   HMGCS2D;   MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY;   Mitochondrial HMG-CoA Synthase Deficiency
 primary_id: MESH:C567784;   RDO:0015744
 alt_id: OMIM:605911
For additional species annotation, visit the Alliance of Genome Resources.



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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:605911
OMIM
ClinVar
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              hypoglycemia 43
                3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
paths to the root