Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600962 http://purl.bioontology.org/ontology/OMIM/600962
Preferred Name	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
Synonyms	NEPPK NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA TYLOSIS PPKNE KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEPPK NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA TYLOSIS PPKNE KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR
prefLabel	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
Gene Symbol	KRT1 EHK1 AEI2 NEPPK EPPK
Scope Statement	Caused by mutation in the keratin 1 gene (KRT1, 139350.0004) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038457 http://purl.bioontology.org/ontology/OMIM/MTHU036510 http://purl.bioontology.org/ontology/OMIM/MTHU038453 http://purl.bioontology.org/ontology/OMIM/MTHU038454 http://purl.bioontology.org/ontology/OMIM/MTHU038455 http://purl.bioontology.org/ontology/OMIM/MTHU038456 http://purl.bioontology.org/ontology/OMIM/MTHU038452 http://purl.bioontology.org/ontology/OMIM/MTHU038459 http://purl.bioontology.org/ontology/OMIM/MTHU038458 http://purl.bioontology.org/ontology/OMIM/MTHU038451 See more See less
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600962
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1833030
OMIM Entry Type	3
OMIM MimType Value	pound

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