loading...| Preferred Name |
Papillon-Lefèvre syndrome |
|
| Synonyms |
PLS |
|
| Definitions |
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_678 |
|
| alternative_term |
PLS Keratosis palmoplantar-periodontopathy syndrome |
|
| definition |
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:EC20.30 ICD-10:Q82.8 UMLS:C0030360 MedDRA:10082856 OMIM:245000 MeSH:D010214 |
|
| label |
Papillon-Lefèvre syndrome |
|
| notation |
ORPHA:678 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_309340 |
|
| prefixIRI |
ORDO:Orphanet_678 |
|
| prefLabel |
Papillon-Lefèvre syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_309340 |
|
| subClassOf |