osteogenesis imperfecta type 2
Findings
No curated finding names osteogenesis imperfecta type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Definition from the Mondo Disease Ontology (MONDO:0008147), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Absent ossification of calvariaHPOHP:0005623
- 1 of 1 reported patient · Fetal onset
- Bell-shaped thoraxHPOHP:0001591
- 1 of 1 reported patient · Fetal onset
- Crumpled long bonesHPOHP:0006367
- 1 of 1 reported patient · Fetal onset
- Limb undergrowthHPOHP:0009826
- 2 of 2 reported patients · Fetal onset
- Multiple prenatal fracturesHPOHP:0005855
- 2 of 2 reported patients · Fetal onset
- Multiple rib fracturesHPOHP:0006640
- 1 of 1 reported patient · Fetal onset
Genes
6 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.
- COL1A2HGNC:2198
- Definitive · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- COL1A1HGNC:2197
- Supportive · Orphanet · Autosomal dominant · 2021
- CRTAPHGNC:2379
- Supportive · Orphanet · Autosomal dominant · 2021
- MESDHGNC:13520
- Supportive · Orphanet · Autosomal dominant · 2021
- P3H1HGNC:19316
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: osteogenesis imperfecta type 2
- Also called
- lethal osteogenesis imperfectaOI type 2OI2osteogenesis imperfecta type IIVrolik type of osteogenesis imperfecta