Symptom
Abnormal tissue enzyme concentration or activity
Synonyme
- Abnormal tissue enzyme activity
Begriffsbeziehungen
Oberbegriffe
Unterbegriffe
- Reduced tissue carnitine O-palmitoyltransferase 2 activity
- Decreased tissue succinic semialdehyde dehydrogenase activity
- Reduzierte Galactocerebrosidase-Aktivität
- Abnormal enzyme activity in muscle tissue
- Abnormal liver enzyme activity or concentration
- Reduced tissue beta-glucuronidase activity
- Reduced tissue fructose-1,6-bisphosphatase activity
- Abnormal enzyme activity in cultured fibroblasts
- Reduced tissue beta-mannosidase activity
- Reduced tissue argininosuccinate synthetase activity
- Reduced tissue medium-chain acyl-CoA dehydrogenase activity
- Reduced tissue tripeptidyl peptidase 1 activity
- Reduced tissue arginine:glycine amidinotransferase activity
- Reduced tissue aspartylglucosaminidase activity
- Reduced tissue carnitine-acylcarnitine translocase activity
- Reduced tissue mannosyl-oligosaccharide glucosidase activity
- Reduced tissue 3-methylglutaconyl-CoA hydratase activity
- Reduced tissue gamma-glutamyltransferase activity
- Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity
- Low tissue ferrochelatase activity
- Reduced tissue fatty aldehyde dehydrogenase activity
- Reduced tissue guanidinoacetate methyltransferase activity
- Decreased tissue S-adenosylhomocysteine hydrolase activity
- Reduced tissue phosphomannomutase activity
- Reduced tissue phosphomannose isomerase activity
- Reduced tissue palmitoyl-protein thioesterase activity
- Diminished tissue fumarylacetoacetate hydrolase activity
- Reduced tissue peptidase D activity
- Reduced tissue glycine cleavage enzyme activity
- Reduced tissue phosphorylase kinase activity
- Diminished tissue very long-chain acyl-CoA dehydrogenase activity
- Reduced tissue neuraminidase activity
Externe Kennungen
- HPO HP:6000231Exakte Zuordnung · Quellenstand: 2026-09-01 · Gespeicherte Zuordnung, keine klinisch geprüfte GleichwertigkeitOriginalquelle
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Herkunft und Zuordnungen
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