genochondromatosis type 1
Findings
No curated finding names genochondromatosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.
Definition from the Mondo Disease Ontology (MONDO:0019411), read 2026-09-29. CC BY 4.0.
Features
3 features
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, annotations 2026-09-02.
- Abnormal clavicle morphologyHPOHP:0000889
- Very frequent (80% to 99% of cases)
- Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
- Multiple enchondromatosisHPOHP:0005701
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of