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ochronosis disorder

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0001910:  ochronosis disorder
GARD:0007231: 
MESH:D009794: 
NCIT:C84938: 
SCTID:410042009: 
UMLS:C0028817: