Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthritis
Very frequent (80-99%)HP:0001369
Big calvaria
Very frequent (80-99%)HP:0000256
Bone pain
Very frequent (80-99%)HP:0002653
Cranial nerve paralysis
Very frequent (80-99%)HP:0006824
Death of bone due to decreased blood supply
Very frequent (80-99%)HP:0010885
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Facial muscle weakness of muscles innervated by CN VII
Very frequent (80-99%)HP:0010628
Frequent fractures
Very frequent (80-99%)HP:0002757
Frontal protuberance
Very frequent (80-99%)HP:0002007
Generalized osteosclerosis
Very frequent (80-99%)HP:0005789
Joint dislocation
Very frequent (80-99%)HP:0001373
Mandibular osteomyelitis
Very frequent (80-99%)HP:0007626
Osteoarthritis
Very frequent (80-99%)HP:0002758
Osteomyelitis
Very frequent (80-99%)HP:0002754
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased body height
Frequent (30-79%)HP:0004322
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Dental anomalies
Frequent (30-79%)HP:0000164
Genu valga
Frequent (30-79%)HP:0002857
Optic atrophy
Frequent (30-79%)HP:0000648
Tiredness
Frequent (30-79%)HP:0012378
Abnormality of leukocytes
Occasional (5-29%)HP:0001881
Abnormality of multiple cell lineages in the bone marrow
Occasional (5-29%)HP:0012145
Hypoacusis
Occasional (5-29%)HP:0000365
Hypoplastic bone marrow
Occasional (5-29%)HP:0005528
Legal blindness
Occasional (5-29%)HP:0000618
Low blood calcium levels
Occasional (5-29%)HP:0002901
Related Conditions
Quick Facts
- SNOMED CT
- 725050005
- UMLS CUI
- C3179239
- Fully Specified Name
- Autosomal dominant osteopetrosis type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.