osteogenesis imperfecta
Findings
No curated finding names osteogenesis imperfecta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Definition from the Mondo Disease Ontology (MONDO:0019019), read 2026-09-29. CC BY 4.0.
Features
113 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.
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Abnormality of dental colorHPOHP:0011073
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Decreased skull ossificationHPOHP:0004331
- Very frequent (80% to 99% of cases)
- Diaphyseal undertubulationHPOHP:0005019
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
Show the remaining 101
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Mixed hearing impairmentHPOHP:0000410
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Prominent occiputHPOHP:0000269
- Very frequent (80% to 99% of cases)
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.
- COL1A1HGNC:2197
- Definitive · ClinGen · Autosomal dominant · 2022
- COL1A2HGNC:2198
- Definitive · G2P · Autosomal dominant · 2019
- FKBP10HGNC:18169
- Strong · PanelApp Australia · Autosomal recessive · 2025
- KIF5BHGNC:6324
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SUCOHGNC:1240
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (10)
- brittle bone disorder
- COL1A2-related osteogenesis imperfecta
- high bone mass osteogenesis imperfecta
- osteogenesis imperfecta and a reduction of bone mineral density.
- osteogenesis imperfecta type 13
- osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- osteogenesis imperfecta, type 20
- osteogenesis imperfecta, type 21
- osteogenesis imperfecta, type 23
- osteogenesis imperfecta, type XXII
Other names
6 names
Resolves to: osteogenesis imperfecta
- Also called
- brittle bone diseaseglass bone diseaseLobstein diseaseOIOsteopsathyrosisPorak and Durante disease