Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Popcorn calcification
Frequent (30-79%)HP:6000871
Abnormally indented hip sockets
HP:0003179
Basilar impression
HP:0005758
Biconcave 'codfish' vertebrae
HP:0004586
Bowing of limbs due to multiple fractures
HP:0003023
Dentinogenesis imperfecta
HP:0000703
Dwarfism, short-limbed
HP:0008873
Extra bones within cranial sutures
HP:0002645
Frontal protuberance
HP:0002007
Grey sclerae
HP:0000592
Hunched back
HP:0002808
Hypoacusis
HP:0000365
Hypoplastic mandible
HP:0000347
Increased basal angle of skull base
HP:0002691
Inverted triangular face
HP:0000325
Multiple prenatal fractures
HP:0005855
Neonatal short-limbed dwarfism
HP:0008921
Primary pulmonary hypertension
HP:0002092
Scoliosis
HP:0002650
Severe, generalised osteoporosis
HP:0005897
Skull soft on palpation
HP:0005474
Slender long bone
HP:0003100
Slender ribs
HP:0000883
Tibial bowing
HP:0002982
Varying degree of multiple fractures
HP:0002757
Wider-than-typical soft spot of skull
HP:0000260
Related Conditions
Quick Facts
- SNOMED CT
- 385483009
- UMLS CUI
- C0268362
- Fully Specified Name
- Osteogenesis imperfecta type III (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.