Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent bone maturation of skullcap
Always present (100%)HP:0005623
Bell-shaped chest
Always present (100%)HP:0001591
Crumpled long bones
Always present (100%)HP:0006367
Multiple prenatal fractures
Always present (100%)HP:0005855
Multiple rib fractures
Always present (100%)HP:0006640
Short limbs
Always present (100%)HP:0009826
Slender ribs
Always present (100%)HP:0000883
Thoracic hypoplasia
Always present (100%)HP:0005257
Abnormality of pelvic girdle bone morphology
HP:0002644
Birth weight less than 10th percentile
HP:0001518
Cardiac insufficiency
HP:0001635
Dwarfism, short-limbed
HP:0008873
Extra bones within cranial sutures
HP:0002645
Flattened vertebral bodies
HP:0000926
Frequent fractures
HP:0002757
Grey sclerae
HP:0000592
Hooked nose
HP:0000444
Large, late-closing fontanelle
HP:0000239
Nonimmune hydrops fetalis
HP:0001790
Premature birth
HP:0001622
Puolmonary valve insufficiency
HP:0010444
Respiratory insufficiency
HP:0002093
Thin skin
HP:0000963
Tibial bowing
HP:0002982
Widened long bones
HP:0005622
Related Conditions
Osteogenesis imperfecta type IIA(child)
Osteogenesis imperfecta type IIB(child)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts(child)
Osteogenesis imperfecta, dominant perinatal lethal(child)
Osteogenesis imperfecta, recessive perinatal lethal(child)
Osteogenesis imperfecta type IIC(child)
Osteogenesis imperfecta(parent)
Quick Facts
- SNOMED CT
- 205496008
- UMLS CUI
- C0268358
- Fully Specified Name
- Osteogenesis imperfecta type II (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.