01
Diseases
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
3-hydroxy-3-methylglutaryl-coa synthase deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
- Standard Disease Name
- 3-hydroxy-3-methylglutaryl-coa synthase deficiency
- MeSH Tree
- No data
- ICD-10
- E71.3
Identifiers
- DO ID
- No data
- MeSH ID
- C567784
- OMIM ID
- 605911
- UMLS ID
- C2751532
- HPO ID
- No data
Description and Extensions
- Description
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20
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