dysplasia of the proximal femoral epiphyses
Findings
No curated finding names dysplasia of the proximal femoral epiphyses yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.
Definition from the Mondo Disease Ontology (MONDO:1030002), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL2A1HGNC:2200
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of