ochronosis disorder
MONDO:0001910Mondo
Findings
No curated finding names ochronosis disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0001910), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- OchronosisMondoHP:0030764
Where it sits
- Located in (Mondo)
- Narrower terms (1)
Other names
1 name
Resolves to: ochronosis disorder
- Also called
- ochronosis