Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of bone mineral density
Very frequent (80-99%)HP:0004348
Back pain
Frequent (30-79%)HP:0003418
Cortical sclerosis
Frequent (30-79%)HP:0005652
Erlenmeyer flask femora
Frequent (30-79%)HP:0004975
Generalized osteosclerosis
Frequent (30-79%)HP:0005789
Increased susceptibility to fractures
Frequent (30-79%)HP:0002659
Osteosclerosis of the base of the skull
Frequent (30-79%)HP:0005746
Sandwich appearance of vertebral bodies
Frequent (30-79%)HP:0004618
Varying degree of multiple fractures
Frequent (30-79%)HP:0002757
Abnormality of the nervous system
Occasional (5-29%)HP:0000707
Elevated alkaline phosphatase
Occasional (5-29%)HP:0003155
Low number of red blood cells or hemoglobin
Occasional (5-29%)HP:0001903
Angle class 3 malocclusion
Very rare (1-4%)HP:0000689
Bone infection
Very rare (1-4%)HP:0002754
Chronic infection
Very rare (1-4%)HP:0031035
Cranial nerve compression
Very rare (1-4%)HP:0001293
Dental anomalies
Very rare (1-4%)HP:0000164
Hepatosplenomegaly
Very rare (1-4%)HP:0001433
Misshapened teeth
Very rare (1-4%)HP:0006482
Optic atrophy from cranial nerve compression
Very rare (1-4%)HP:0007958
Poor vision
Very rare (1-4%)HP:0000505
Related Conditions
Quick Facts
- SNOMED CT
- 254121000
- UMLS CUI
- C0432261
- Fully Specified Name
- Osteopetrosis - intermediate type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.