Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bowdler spurs
Always present (100%)HP:6000873
Bowed lower limbs
HP:0002979
Decreased body height
HP:0004322
Decreased circulating alkaline phosphatase activity
HP:0003282
Deformity of the skull
HP:0001363
Dental cavities
HP:0000670
Elevated plasma pyrophosphate
HP:0011864
Elevated urine pyrophosphate
HP:0003491
Frontal protuberance
HP:0002007
Increased urine O-phosphoethanolamine level
HP:0003239
Myopathy
HP:0003198
Narrow cranium shape
HP:0000268
Premature exfoliation of primary teeth
HP:0006323
Protruding eyes
HP:0000520
Rachitic rosary
HP:0000897
Seizures
HP:0001250
Skin dimple over apex of long bone angulation
HP:0001024
Waddling gait
HP:0002515
Quick Facts
- SNOMED CT
- 30174008
- UMLS CUI
- C0220743
- Fully Specified Name
- Childhood hypophosphatasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.