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Human Disease

KRT1-related nonepidermolytic palmoplantar keratoderma

Term ID
DOID:0070550
Synonyms
  • KRT1-related NEPPK
Definition
A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (2)
References
  • GARD:5186
  • MIM:600962
  • ORDO:530838
  • UMLS_CUI:C5680142
Ontology
Human Disease   ( DOID:0070550 )
Relationships
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Genes Involved
Zebrafish Models