Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: pachyonychia congenita type 2 pachyonychia congenita 2 KRT17 pachyonychia congenita pachyonychia congenita caused by mutation in KRT17
Term information
- MEDGEN:314107 (MONDO:equivalentTo)
- UMLS:C1721007 (MONDO:equivalentTo)
- OMIM:167210 (MONDO:equivalentTo)
- GARD:15103 (MONDO:GARD)
gard_rare, rare, nord_rare
http://identifiers.org/medgen/314107
http://linkedlifedata.com/resource/umls/id/C1721007
https://omim.org/entry/167210
pachyonychia congenita, Jackson-Lawler type, formerly
PC2
pachyonychia congenita, Jackson-Lawler type