Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: KRT16 pachyonychia congenita pachyonychia congenita 1 pachyonychia congenita caused by mutation in KRT16 pachyonychia congenita type 1
Term information
- OMIM:167200 (MONDO:equivalentTo)
- MEDGEN:353335 (MONDO:equivalentTo)
- SCTID:39427000 (MONDO:equivalentTo)
- UMLS:C1706595 (MONDO:equivalentTo)
- GARD:15102 (MONDO:GARD)
gard_rare, rare, nord_rare
http://identifiers.org/snomedct/39427000
http://linkedlifedata.com/resource/umls/id/C1706595
https://omim.org/entry/167200
http://identifiers.org/medgen/353335
Jadassohn-Lewandowsky syndrome, formerly
pachyonychia congenita, Jadassohn-Lewandowsky type
Jadassohn-Lewandowsky syndrome
pachyonychia congenita, Jadassohn-Lewandowsky type, formerly
PC1