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Metadata
ID DOID:0070552
Name epidermolytic palmoplantar keratoderma 1
Definition An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2.
https://pubmed.ncbi.nlm.nih.gov/30666268, https://pubmed.ncbi.nlm.nih.gov/12192490/
Xrefs

MIM:144200

SKOS

exactMatch MIM:144200

Subsets

DO_rare_slim

Synonyms

EPPK1 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a epidermolytic palmoplantar keratoderma

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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