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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:HMG-CoA synthase 2 deficiency
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Accession:DOID:0081168 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (DO)
Synonyms:exact_synonym: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency;   HMGCS2 Deficiency;   HMGCS2D;   MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY;   Mitochondrial HMG-CoA Synthase Deficiency
 primary_id: MESH:C567784
 alt_id: DOID:9003547;   OMIM:605911
 xref: GARD:2712;   ORDO:35701


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HMG-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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605911
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY		 OMIM
CTD
MouseDO
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: HMG-CoA synthase-2 deficiency ClinVar NCBI chr 2:185,906,962...185,936,054
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 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          HMG-CoA synthase 2 deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              glucose metabolism disease 2071
                hypoglycemia 49
                  HMG-CoA synthase 2 deficiency 2
paths to the root