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DO Term : focal or diffuse nonepidermolytic palmoplantar keratoderma [DOID:0111710] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.

synonyms:
PPKNEFD,
615735,
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,
ORDO:402003,
OMIM:615735

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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