Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal clavicles
Very frequent (80-99%)HP:0000889
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Enlargement of skull bones
Very frequent (80-99%)HP:0004437
Generalized osteosclerosis
Very frequent (80-99%)HP:0005789
Mandibular hyperplasia
Very frequent (80-99%)HP:0000303
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Facial palsy
Frequent (30-79%)HP:0010628
Sensorineural deafness
Frequent (30-79%)HP:0000407
Broad cortex of long bones
HP:0000935
Cranial nerve paralysis
HP:0006824
Deafness
HP:0000365
Elevated alkaline phosphatase
HP:0003155
Elevated circulating type I procollagen aminoterminal propeptide concentration
HP:6000749
Headache
HP:0002315
Increased bone mineral density
HP:0011001
Optic atrophy from cranial nerve compression
HP:0007958
Related Conditions
Quick Facts
- SNOMED CT
- 59763006
- UMLS CUI
- C0432272
- Fully Specified Name
- Hyperphosphatasemia tarda (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.