osteogenesis imperfecta type 1
Findings
No curated finding names osteogenesis imperfecta type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Definition from the Mondo Disease Ontology (MONDO:0008146), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Finger joint hypermobilityHPOHP:0006094
- 1 of 1 reported patient
- Hip dysplasiaHPOHP:0001385
- 1 of 1 reported patient
- Increased susceptibility to fracturesHPOHP:0002659
- 1 of 1 reported patient
- Recurrent fracturesHPOHP:0002757
- 1 of 1 reported patient
- Vertebra planaHPOHP:6001053
Genes
4 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.
Where it sits
Other names
8 names
Resolves to: osteogenesis imperfecta type 1
- Also called
- Adair-Dighton syndromeCOL1A1-related osteogenesis imperfectamild osteogenesis imperfectanon-deforming osteogenesis imperfectaOI type 1OI1osteogenesis imperfecta type IVan der Hoeve syndrome