Ochronosis disorder

MONDO:0001910

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.

Also known as: ochronosis

1 clinical trial for this condition and its sub-types, 1 tagged with Ochronosis disorder itself.

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Where it sits in the disease tree

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Part of

↑ Skeletal system disorder (9737) ↑ Metabolic disease (7369) ↑ Connective tissue disorder (4647)

Sub-types of Ochronosis disorder

Exogenous ochronosis 0 trials

Including sub-types (1) Tagged with Ochronosis disorder (1)

Trials to join now! 1

NIH launches study to unlock secrets of rare 'Black Urine' disease

Knowledge-focused Recruiting now

This study aims to learn more about alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis and other problems. Researchers will evaluate 300 patients over several years using advanced medical tests. The goal is to better …

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Sep 03, 2026 00:00 UTC

Ochronosis disorder

Where it sits in the disease tree

NIH launches study to unlock secrets of rare 'Black Urine' disease