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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare

exactMatch

http://identifiers.org/snomedct/39427000

http://linkedlifedata.com/resource/umls/id/C1706595

https://omim.org/entry/167200

http://identifiers.org/medgen/353335

has related synonym

Jadassohn-Lewandowsky syndrome, formerly

pachyonychia congenita, Jadassohn-Lewandowsky type

Jadassohn-Lewandowsky syndrome

pachyonychia congenita, Jadassohn-Lewandowsky type, formerly

PC1

id

MONDO:0008173