Agent Commons Collaborative Research

Metabolic disease

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.

Identifiers
MONDO:0005066
Part of
Disease by developmental or physiological process
Also known as
disorder of metabolic process · metabolic disorder · metabolic process disease

Subtypes

All diseases Rare only
Disease Subtypes
Inborn errors of metabolism 2,054
Developmental anomaly of metabolic origin 593
Carbohydrate metabolism disease 307
Amino acid metabolism disease 248
Mineral metabolism disease 144
Glucose metabolism disease 91
Proteostasis deficiencies 71
Porphyrin metabolism disease 68
Steroid metabolism disease 50
Lipodystrophy 42
Bilirubin metabolism disease 37
Disorder of GPI anchor biosynthesis 27
Vitamin B12 deficiency 26
Purine metabolism disease 24
Acquired metabolic disease 22
Hyperlipidemia 19
Pyrimidine metabolism disease 15
Disorder of acid-base balance 11
Hyperlipoproteinemia 11
Hypoalphalipoproteinemia 11
Glutaric aciduria 8
Dopa-responsive dystonia 7
Diabetic retinopathy 4
Xanthinuria 4
Chondrocalcinosis 3
Lactic acidosis 3
Hypertriglyceridemia 2
Ochronosis disorder 1
Xanthoma 1
Collagenous sprue
Diabetic kidney disease
Disorder of glutamate decarboxylase
Disorder of organic acid metabolism
Gout
Skeletal fluorosis
Steroid dehydrogenase deficiency-dental anomalies syndrome
Tumor lysis syndrome

Rare disease

Projects

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