Preferred Name |
Papillon-Lefèvre syndrome |
|
Synonyms |
Keratosis palmoplantaris - Periodontopathie PLS |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_2551 |
|
ageOfDeath |
Normal Normal Normal Normale Normal Normal Normal |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
Keratosis palmoplantaris - Periodontopathie PLS PLS Queratose palmo-plantar - periodontopatia Keratosis palmoplantar - periodontopathy Kératodermie palmoplantaire - périodontopathie Cheratosi palmoplantare - periodontopatia Queratosis palmoplantar - periodontopatía |
|
id_Medline | ||
id_MeSH |
D010214 |
|
id_MIM |
245000 |
|
id_OMS |
Q82.8 |
|
id_Orpha |
678 |
|
id_SNOMEDCT |
40158001 |
|
id_UMLS |
C0030360 |
|
inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_2551 |
|
prefLabel |
Papillon-Lefèvre syndrome Papillon-Lefèvre-Syndrom Syndrome de Papillon-Lefèvre Síndrome de Papillon-Lefèvre Sindrome di Papillon-Lefèvre Síndrome de Papillon-Lefevre |
|
prevalence |
1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_678 | EFO | LOOM | |
rgo:08740 | GAMUTS | LOOM | |
rgo:08740 | GAMUTS | LOOM | |
http://www.orpha.net/ORDO/Orphanet_678 | ORDO | LOOM | |
http://purl.bioontology.org/ontology/SNOMEDCT/40158001 | SNOMEDCT | LOOM | |
http://www.gamuts.net/entity#Papillon_Lefèvre_syndrome | GAMUTS | LOOM |