Overview
Autosomal dominant osteopetrosis type 1 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad cortex of long bones
Frequent (30-79%)HP:0000935
Calvarial osteosclerosis
Frequent (30-79%)HP:0005450
Maxillary torus
Frequent (30-79%)HP:0100789
Headache
Occasional (5-29%)HP:0002315
Lower jaw pain
Occasional (5-29%)HP:0200025
Abnormality of pelvic girdle bone morphology
HP:0002644
Abnormality of the backbone
HP:0000925
Elevated serum acid phosphatase
Excluded (<1%)HP:0003148
Generalized osteosclerosis
HP:0005789
Hearing loss, conductive
HP:0000405
Increased fracture rate
Excluded (<1%)HP:0002757
Increased thickness of cranium
HP:0002684
Marble bone disease
HP:0011002
Quick Facts
- SNOMED CT
- 1264041000
- UMLS CUI
- C1843330
- Fully Specified Name
- Autosomal dominant osteopetrosis type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.