loading...| Preferred Name |
Pachyonychia congenita |
|
| Synonyms |
PC |
|
| Definitions |
A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2309 |
|
| alternative_term |
PC |
|
| definition |
A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
UMLS:C0265334 ICD-10:Q84.5 OMIM:260130 MeSH:D053549 OMIM:167210 OMIM:167200 OMIM:615728 OMIM:615726 MedDRA:10080088 ICD-11:LD27.Y |
|
| label |
Pachyonychia congenita |
|
| notation |
ORPHA:2309 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79370 |
|
| prefixIRI |
ORDO:Orphanet_2309 |
|
| prefLabel |
Pachyonychia congenita |
|
| present_in |
Worldwide AND has_cases/families_value : 1000.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79370 |
|
| subClassOf |