loading...| Preferred Name |
Hidrotic ectodermal dysplasia |
|
| Synonyms |
Clouston syndrome |
|
| Definitions |
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_189 |
|
| alternative_term |
Clouston syndrome |
|
| definition |
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
ICD-10:Q82.8 UMLS:C0162361 ICD-11:LD27.02 OMIM:129500 |
|
| label |
Hidrotic ectodermal dysplasia |
|
| notation |
ORPHA:189 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_79373 |
|
| prefixIRI |
ORDO:Orphanet_189 |
|
| prefLabel |
Hidrotic ectodermal dysplasia |
|
| present_in |
Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_79373 |
|
| subClassOf |