palmoplantar keratoderma, nonepidermolytic, focal 1
Go to external page http://purl.obolibrary.org/obo/MONDO_0013073
Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16 palmoplantar keratoderma, nonepidermolytic, focal palmoplantar keratoderma, nonepidermolytic, focal type 1 KRT16 nonepidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic, focal 1
Term information
- MEDGEN:1644485 (MONDO:equivalentTo)
- DOID:0111709 (MONDO:equivalentTo)
- GARD:18487 (MONDO:GARD)
- OMIM:613000 (MONDO:equivalentTo)
- UMLS:C4552049 (MONDO:equivalentTo)
gard_rare, rare, nord_rare
https://github.com/monarch-initiative/mondo/issues/6749
https://github.com/monarch-initiative/mondo/issues/3108
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/4521
https://omim.org/entry/613000
http://purl.obolibrary.org/obo/DOID_0111709
http://identifiers.org/medgen/1644485
http://linkedlifedata.com/resource/umls/id/C4552049
Ppkfne
FNEPPK1
focal nonepidermolytic palmoplantar keratoderma
keratoderma, focal nonepidermolytic palmoplantar