pachyonychia congenita type 2
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
nails hair oral mucosa |
| gptkbp:alsoKnownAs |
Jackson-Lawler syndrome
|
| gptkbp:firstDescribed |
Jackson and Lawler
|
| https://www.w3.org/2000/01/rdf-schema#label |
pachyonychia congenita type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KRT17
KRT6B |
| gptkbp:OMIM |
167210
|
| gptkbp:symptom |
gptkb:steatocystoma_multiplex
palmoplantar keratoderma nail dystrophy oral leukokeratosis |
| gptkbp:bfsParent |
gptkb:KRT17
gptkb:pachyonychia_congenita |
| gptkbp:bfsLayer |
8
|