metabolic disease
MONDO:0005066Mondo
Findings
No curated finding names metabolic disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
Definition from the Mondo Disease Ontology (MONDO:0005066), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (37)
- acquired metabolic disease
- amino acid metabolism disease
- bilirubin metabolism disease
- carbohydrate metabolism disease
- chondrocalcinosis
- collagenous sprue
- developmental anomaly of metabolic origin
- diabetic kidney disease
- diabetic retinopathy
- disorder of acid-base balance
- disorder of glutamate decarboxylase
- disorder of GPI anchor biosynthesis
- disorder of organic acid metabolism
- dopa-responsive dystonia
- glucose metabolism disease
- glutaric aciduria
- gout
- hyperlipidemia
- hyperlipoproteinemia
- hypertriglyceridemia
- hypoalphalipoproteinemia
- inborn errors of metabolism
Other names
3 names
Resolves to: metabolic disease
- Also called
- disorder of metabolic processmetabolic disordermetabolic process disease