disease of metabolism

Summary
Synonym
  • metabolic disease
Definition
A disease that involves errors in metabolic processes of building or degradation of molecules.
Super Class
disease
Disease Ontology
DOID:0014667
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
154 ADRB2 adrenoceptor beta 2
570 BAAT bile acid-CoA:amino acid N-acyltransferase
4683 NBN nibrin
6720 SREBF1 sterol regulatory element binding transcription factor 1
9414 TJP2 tight junction protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
19247 Ptpn11 protein tyrosine phosphatase, non-receptor type 11
Displaying all 3 entries
Gene ID Gene Symbol Description Source
36060 Pfk Phosphofructokinase
42620 PyK Pyruvate kinase
45880 Ldh Lactate dehydrogenase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025