Clinical Trials
1
Total Trials
1
Recruiting
0
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal cartilage morphology
Very frequent (80-99%)HP:0002763
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Breakdown of bone
Very frequent (80-99%)HP:0002797
Hemangiomata
Very frequent (80-99%)HP:0001028
Micromelia
Very frequent (80-99%)HP:0002983
Multiple enchondromatosis
Very frequent (80-99%)HP:0005701
Visceral angiomatosis
Very frequent (80-99%)HP:0100761
Bone pain
Frequent (30-79%)HP:0002653
Multiple, subcutaneous nodules
Frequent (30-79%)HP:0001482
Stiff joint
Frequent (30-79%)HP:0001387
Abnormal tissue mass
Occasional (5-29%)HP:0002664
Blood clot in vein
Occasional (5-29%)HP:0004936
Cancer of connective tissue
Occasional (5-29%)HP:0100242
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Cranial nerve paralysis
Occasional (5-29%)HP:0006824
Genu valga
Occasional (5-29%)HP:0002857
Genua vara
Occasional (5-29%)HP:0002970
Left and right leg differ in length or width
Occasional (5-29%)HP:0100559
Lymphangioma
Occasional (5-29%)HP:0100764
Madelung deformity
Occasional (5-29%)HP:0003067
Open skin sore
Occasional (5-29%)HP:0200042
Outward turned elbows
Occasional (5-29%)HP:0002967
Pathologic fracture
Occasional (5-29%)HP:0002756
Unbalanced face
Occasional (5-29%)HP:0000324
Unequal size of arms
Occasional (5-29%)HP:0100560
Abnormal shape of long bone
HP:0011314
Chondrosarcoma
HP:0006765
Related Conditions
Maffucci syndrome(child)
Dysspondyloenchondromatosis(child)
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria(child)
Metachondromatosis(child)
Disorganised development of cartilaginous and fibrous components of the skeleton(parent)
Osteochondropathy(parent)
Congenital anomaly of skeletal bone(parent)
Quick Facts
- SNOMED CT
- 268274005
- UMLS CUI
- C0014084
- Fully Specified Name
- Enchondromatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
- 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.