Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
nails oral mucosa |
| gptkbp:firstDescribed |
gptkb:Müller
1904 |
| gptkbp:hasPatientSupportGroup |
Pachyonychia Congenita Project
|
| https://www.w3.org/2000/01/rdf-schema#label |
pachyonychia congenita
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KRT17
KRT16 KRT6A KRT6B |
| gptkbp:OMIM |
167200
|
| gptkbp:prevalence |
less than 10,000 worldwide
|
| gptkbp:subspecies |
gptkb:pachyonychia_congenita_type_2
pachyonychia congenita type 1 |
| gptkbp:symptom |
cyst formation
follicular hyperkeratosis oral leukokeratosis painful calluses thickened nails |
| gptkbp:treatment |
pain management
symptomatic management keratolytics |
| gptkbp:bfsParent |
gptkb:Cytokeratin
|
| gptkbp:bfsLayer |
7
|