osteogenesis imperfecta type 3
Findings
No curated finding names osteogenesis imperfecta type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).
Definition from the Mondo Disease Ontology (MONDO:0009804), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Popcorn calcificationHPOHP:6000871
- 13 of 25 reported patients
Genes
11 genes
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.
- COL1A1HGNC:2197
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- COL1A2HGNC:2198
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- BMP1HGNC:1067
- Supportive · Orphanet · Autosomal dominant · 2021
- CREB3L1HGNC:18856
- Supportive · Orphanet · Autosomal dominant · 2021
- CRTAPHGNC:2379
Where it sits
Other names
5 names
Resolves to: osteogenesis imperfecta type 3
- Also called
- OI type 3OI3osteogenesis imperfecta type IIIprogressive deforming osteogenesis imperfectasevere osteogenesis imperfecta