FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term HMG-CoA synthase 2 deficiency ID (Ontology) DOID:0081168 (Human Disease)
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.
Also Known As "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency"
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 Genes
 HMG-CoA synthase 2 deficiency       1
 for disease ribbon | HMG-CoA synthase 2 deficiency       1
 model of | HMG-CoA synthase 2 deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   HMG-CoA synthase 2 deficiency  1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
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Synonyms
  • "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" EXACT
Secondary IDs
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GARD:2712
MIM:605911
ORDO:35701