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Standards Ontologies Notations
alkaptonuria

Summary
Synonym
  • Homogentisate 1,2-dioxygenase deficiency
  • alcaptonuria
Definition
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:9270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3081 HGD homogentisate 1,2-dioxygenase
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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: December 9, 2024