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Metadata
ID	DOID:0070551
Name	epidermolytic palmoplantar keratoderma 2
Definition	An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. https://pubmed.ncbi.nlm.nih.gov/11286630/, https://pubmed.ncbi.nlm.nih.gov/37122192/
Xrefs	MIM:620411
SKOS	exactMatch MIM:620411
Subsets	DO_rare_slim
Synonyms	EPPK2 [EXACT]
Parent Relationships	is_a epidermolytic palmoplantar keratoderma is_a autosomal dominant disease