Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased hair growth
Frequent (30-79%)HP:0008070
Dystrophic nails
Frequent (30-79%)HP:0008404
Keratoderma
Frequent (30-79%)HP:0000982
Palmoplantar keratosis
Frequent (30-79%)HP:0000972
Sparse eyebrow
Frequent (30-79%)HP:0045075
Thin eyelashes
Frequent (30-79%)HP:0000653
Abnormality of metacarpophalangeal joint
Occasional (5-29%)HP:0011911
Absent axillary hair
Occasional (5-29%)HP:0002221
Absent eyebrows
Occasional (5-29%)HP:0002223
Absent pubic hair
Occasional (5-29%)HP:0002555
Anonychia
Occasional (5-29%)HP:0001798
Brittle scalp hair
Occasional (5-29%)HP:0004779
Clubbing of fingers
Occasional (5-29%)HP:0100759
Cobblestone-like hyperkeratosis
Occasional (5-29%)HP:0031288
Deafness
Occasional (5-29%)HP:0000365
Decreased sexual hair
Occasional (5-29%)HP:0002225
Fine hair
Occasional (5-29%)HP:0002213
Generalised hypotrichosis
Occasional (5-29%)HP:0004528
Hyperkeratotic papule
Occasional (5-29%)HP:0045059
Hypopigmentation of hair
Occasional (5-29%)HP:0005599
Melanoderma
Occasional (5-29%)HP:0000953
Pachydermia
Occasional (5-29%)HP:0001072
Slow-growing nails
Occasional (5-29%)HP:0008383
Small nail
Occasional (5-29%)HP:0001792
sparse to absent axillary hair
Occasional (5-29%)HP:0002215
Thinning scalp hair
Occasional (5-29%)HP:0002209
Abnormal hands
HP:0001155
Abnormality of the feet
HP:0001760
Blepharitis
HP:0000498
Conjunctivitis, recurrent
HP:0000509
Quick Facts
- SNOMED CT
- 54209007
- UMLS CUI
- C0162361
- Fully Specified Name
- Hidrotic ectodermal dysplasia syndrome (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.