Overview
Pili torti onychodysplasia syndrome 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.
Ectodermal dysplasia
Always present (100%)HP:0000968
Absent eyelashes
Frequent (30-79%)HP:0000561
Alopecia universalis
Frequent (30-79%)HP:0002289
Aplasia of eyebrows
Frequent (30-79%)HP:0002223
Cleft lip
Frequent (30-79%)HP:0410030
Cleft of palate
Frequent (30-79%)HP:0000175
Congenital onychodystrophy
Frequent (30-79%)HP:0008394
Conjunctival hyperemia
Frequent (30-79%)HP:0030953
Cutaneous syndactyly of digits
Frequent (30-79%)HP:0012725
Dry skin
Frequent (30-79%)HP:0000958
Dysplastic ears
Frequent (30-79%)HP:0000377
Dystrophic nails
Frequent (30-79%)HP:0008404
Eczema
Frequent (30-79%)HP:0000964
Fractured hair
Frequent (30-79%)HP:0002299
Generalised keratosis follicularis
Frequent (30-79%)HP:0007439
Generalized trichodysplasia
Frequent (30-79%)HP:0002552
Hair loss
Frequent (30-79%)HP:0001596
Keloids
Frequent (30-79%)HP:0010562
Keratoderma
Frequent (30-79%)HP:0000982
Sparse body hair
Occasional (5-29%)HP:0002231
Related Conditions
Quick Facts
- SNOMED CT
- 723451000
- UMLS CUI
- C4509919
- Fully Specified Name
- Pili torti onychodysplasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.