ochronosis

Summary
Definition
A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
Super Class
connective tissue disease
External Links
Disease Ontology
DOID:14223
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
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