Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: striate palmoplantar keratoderma caused by mutation in KRT1 keratosis palmoplantaris striata type 3 KRT1 striate palmoplantar keratoderma
Term information
- GARD:9173 (MONDO:GARD)
- OMIM:607654 (MONDO:equivalentTo)
- DOID:0081110 (MONDO:equivalentTo)
- MESH:C536163 (MONDO:equivalentTo)
- MEDGEN:418996 (MONDO:equivalentTo)
- UMLS:C2931123 (MONDO:equivalentTo)
gard_rare, rare, nord_rare
http://linkedlifedata.com/resource/umls/id/C2931123
http://identifiers.org/medgen/418996
http://identifiers.org/mesh/C536163
https://omim.org/entry/607654
http://purl.obolibrary.org/obo/DOID_0081110
keratosis palmoplantaris striata III
keratoderma, palmoplantar, striate form 3
PPKS3
striate palmoplantar keratoderma 3
keratoderma palmoplantar striate form 3