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ONTOLOGY REPORT - ANNOTATIONS


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
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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:7240710
RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:8554872

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Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1887
          3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2691
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              hypoglycemia 41
                3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
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