avascular necrosis of femoral head, primary, 1
MONDO:0054550Mondo
Findings
No curated finding names avascular necrosis of femoral head, primary, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 11 of 11 reported patients
- Generalized osteoporosisHPOHP:0040160
- 1 of 1 reported patient
- Groin painHPOHP:0031520
- 1 of 1 reported patient
- Hip painHPOHP:0030838
- 1 of 1 reported patient
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: avascular necrosis of femoral head, primary, 1
- Also called
- avascular necrosis of the femoral head