Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: pachyonychia congenita type 3 pachyonychia congenita 3 pachyonychia congenita caused by mutation in KRT6A KRT6A pachyonychia congenita
Term information
- GARD:16005 (MONDO:GARD)
- MEDGEN:811523 (MONDO:equivalentTo)
- UMLS:C3714948 (MONDO:equivalentTo)
- OMIM:615726 (MONDO:equivalentTo)
gard_rare, rare, nord_rare
http://linkedlifedata.com/resource/umls/id/C3714948
https://omim.org/entry/615726
http://identifiers.org/medgen/811523