Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: pachyonychia congenita caused by mutation in KRT6B pachyonychia congenita type 4 pachyonychia congenita 4 KRT6B pachyonychia congenita
Term information
- OMIM:615728 (MONDO:equivalentTo)
- MEDGEN:811524 (MONDO:equivalentTo)
- UMLS:C3714949 (MONDO:equivalentTo)
- GARD:16006 (MONDO:GARD)
gard_rare, rare, nord_rare
http://linkedlifedata.com/resource/umls/id/C3714949
http://identifiers.org/medgen/811524
https://omim.org/entry/615728