Overview
Homogentisicaciduria is a disorder. There are currently 1 actively recruiting clinical trials.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Clinical Trials
1
Total Trials
1
Recruiting
0
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skin colour
Very frequent (80-99%)HP:0001000
Abnormality of vision
Very frequent (80-99%)HP:0000504
Aminoaciduria
Very frequent (80-99%)HP:0003355
Arthritic pain
Very frequent (80-99%)HP:0002829
Calcification of cartilage
Very frequent (80-99%)HP:0100593
Coronary artery calcification
Very frequent (80-99%)HP:0001717
Elevated urinary homogentisic acid
Very frequent (80-99%)HP:0033704
Hearing abnormality
Very frequent (80-99%)HP:0000364
Irregular hyperpigmentation
Very frequent (80-99%)HP:0007400
Joint dislocation
Very frequent (80-99%)HP:0001373
Joint inflammation
Very frequent (80-99%)HP:0001369
Joint swelling
Very frequent (80-99%)HP:0001386
Low back pain
Very frequent (80-99%)HP:0003419
Multiple intervertebral disk calcifications
Very frequent (80-99%)HP:0005645
Ochronosis
Very frequent (80-99%)HP:0030764
Osteoarthritis
Very frequent (80-99%)HP:0002758
Stiff joint
Very frequent (80-99%)HP:0001387
Aortic stenosis
Frequent (30-79%)HP:0001650
Aortic valve calcification
Frequent (30-79%)HP:0004380
Back pain
Frequent (30-79%)HP:0003418
Cartilage destruction
Frequent (30-79%)HP:0100773
Dark urine
Frequent (30-79%)HP:0040319
Hunched back
Frequent (30-79%)HP:0002808
Kidney stones
Frequent (30-79%)HP:0000787
Limited hip movement
Frequent (30-79%)HP:0008800
Mitral valve calcification
Frequent (30-79%)HP:0004382
Nail disease
Frequent (30-79%)HP:0001597
Nasal deformity
Frequent (30-79%)HP:0000366
Oil-drop brown pigmentation of the corneal limbus
Frequent (30-79%)HP:6000027
Pigmentation of the sclera
Frequent (30-79%)HP:0007832
Quick Facts
- SNOMED CT
- 360378009
- UMLS CUI
- C0002066
- Fully Specified Name
- Homogentisate 1,2-dioxygenase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Clinical Trials
- 1
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.