osteogenesis imperfecta, type 23
MONDO:0957988Mondo
Findings
No curated finding names osteogenesis imperfecta, type 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Bowing of the legsHPOHP:0002979
- 5 of 5 reported patients
- Genu valgumHPOHP:0002857
- 5 of 5 reported patients
- OsteopeniaHPOHP:0000938
- 5 of 5 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 5 of 5 reported patients
- Severe platyspondylyHPOHP:0004565
- 4 of 4 reported patients
- Shallow acetabular fossaeHPOHP:0003182
- 5 of 5 reported patients
- Truncal obesityHPOHP:0001956
- 5 of 5 reported patients
- Blue scleraeHPOHP:0000592
- 4 of 5 reported patients · Congenital onset
- Acanthosis nigricansHPOHP:0000956
- 3 of 5 reported patients
- Broad femoral headHPOHP:0008804
- 3 of 5 reported patients
- Recurrent fracturesHPOHP:0002757
- 2 of 5 reported patients
- Short statureHPOHP:0004322
- 2 of 5 reported patients
Show the remaining 3
- Hip dislocationHPOHP:0002827
- 1 of 5 reported patients
- Insulin resistanceHPOHP:0000855
- 1 of 5 reported patients
- TorticollisHPOHP:0000473
- 1 of 5 reported patients
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.
- PHLDB1HGNC:23697
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of