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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
External Links
Disease Ontology
DOID:9270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1118 CHIT1 chitinase 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13231 Chitotriosidase-1
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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: August 19, 2024