Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Abnormality of dental color
Very frequent (80-99%)HP:0011073
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Dystrophic tooth enamel
Very frequent (80-99%)HP:0000682
Gait disturbance
Very frequent (80-99%)HP:0001288
Hearing impairment
Very frequent (80-99%)HP:0000365
Hearing loss, mixed
Very frequent (80-99%)HP:0000410
Hooked nose
Very frequent (80-99%)HP:0000444
Increased size of skull
Very frequent (80-99%)HP:0000256
Pectus carinatum
Very frequent (80-99%)HP:0000768
Poorly ossified skull
Very frequent (80-99%)HP:0004331
Prominent posterior skull
Very frequent (80-99%)HP:0000269
Rib anomalies
Very frequent (80-99%)HP:0000772
Rotting teeth
Very frequent (80-99%)HP:0000670
Slender ribs
Very frequent (80-99%)HP:0000883
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Wide cranium shape
Very frequent (80-99%)HP:0000248
Abnormal compact bone morphology
Frequent (30-79%)HP:0003103
Abnormal shape of long bone
Frequent (30-79%)HP:0011314
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the hips
Frequent (30-79%)HP:0003272
Abnormality of the thighbone
Frequent (30-79%)HP:0002823
Biconcave 'codfish' vertebrae
Frequent (30-79%)HP:0004586
Bilateral crossbite
Frequent (30-79%)HP:0000689
Bone pain
Frequent (30-79%)HP:0002653
Bowed femura
Frequent (30-79%)HP:0002980
Decreased body height
Frequent (30-79%)HP:0004322
Related Conditions
Osteogenesis imperfecta, perinatal lethal(child)
Osteogenesis imperfecta type IV(child)
Osteoporosis with pseudoglioma(child)
Osteogenesis imperfecta type I(child)
Osteogenesis imperfecta type III(child)
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome(child)
Ehlers-Danlos and osteogenesis imperfecta syndrome(child)
High bone mass osteogenesis imperfecta(child)
Osteogenesis imperfecta type V(child)
Skeletal dysplasia(parent)
Genetic disease(parent)
Congenital anomaly of skeletal bone(parent)
Quick Facts
- SNOMED CT
- 78314001
- UMLS CUI
- C0029434
- Fully Specified Name
- Osteogenesis imperfecta (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 3
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.