Pili torti - onychodysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 3 |
| OrphanetNr: | 2890 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
C2931483 |
| MeSH: |
C537399 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0010719) | Abnormality of hair texture | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
|
(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|