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
  1. Inborn errors of metabolism MONDO:0019052 2,049
  2. Developmental anomaly of metabolic origin MONDO:0015327 591
  3. Carbohydrate metabolism disease MONDO:0037792 302
  4. Amino acid metabolism disease MONDO:0037871 243
  5. Mineral metabolism disease MONDO:0000226 128
  6. Glucose metabolism disease MONDO:0002908 77
  7. Proteostasis deficiencies MONDO:0021179 70
  8. Porphyrin metabolism disease MONDO:0037821 66
  9. Steroid metabolism disease MONDO:0045012 49
  10. Lipodystrophy MONDO:0006573 42
  11. Bilirubin metabolism disease MONDO:0024431 35
  12. Disorder of GPI anchor biosynthesis MONDO:0024321 26
  13. Vitamin B12 deficiency MONDO:0020696 26
  14. Purine metabolism disease MONDO:0037829 24
  15. Hyperlipidemia MONDO:0021187 18
  16. Pyrimidine metabolism disease MONDO:0037937 15
  17. Acquired metabolic disease MONDO:0006504 13
  18. Hyperlipoproteinemia MONDO:0037748 11
  19. Hypoalphalipoproteinemia MONDO:0017773 11
  20. Disorder of acid-base balance MONDO:0041261 8
  21. Glutaric aciduria MONDO:0000129 8
  22. Dopa-responsive dystonia MONDO:0016812 7
  23. Xanthinuria MONDO:0000721 3
  24. Chondrocalcinosis MONDO:0001314 2
  25. Hypertriglyceridemia MONDO:0005347 2
  26. Lactic acidosis MONDO:0006040 2
  27. Ochronosis disorder MONDO:0001910 1
  28. Disorder of glutamate decarboxylase MONDO:0042970
  29. Steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0017904
  30. Tumor lysis syndrome MONDO:0043875

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.