Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Developmental dysplasia of the hip
Always present (100%)HP:0001385
Finger joint hypermobility
Always present (100%)HP:0006094
Grey sclerae
Always present (100%)HP:0000592
Increased susceptibility to fractures
Always present (100%)HP:0002659
Recurrent fractures
Always present (100%)HP:0002757
Dentinogenesis imperfecta
Occasional (5-29%)HP:0000703
Biconcave flattened vertebrae
HP:0003321
Bowed femura
HP:0002980
Bruising susceptibility
HP:0000978
Bulge in wall of large artery that carries blood away from heart
HP:0004942
Extra bones within cranial sutures
HP:0002645
Growth abnormality
HP:0001507
Hearing impairment
HP:0000365
Joint ligamentous laxity
HP:0001382
Mitral valve prolapse
HP:0001634
Osteopenia
HP:0000938
Otosclerosis
HP:0000362
Pancake vertebra
HP:6001053
Thin skin
HP:0000963
Related Conditions
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta(child)
Osteogenesis imperfecta with blue sclerae AND normal teeth(child)
Osteogenesis imperfecta(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 385482004
- UMLS CUI
- C0023931
- Fully Specified Name
- Osteogenesis imperfecta type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.