Visualize Submit Comment
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/12192490/, https://pubmed.ncbi.nlm.nih.gov/30666268
Xrefs

MIM:144200

SKOS

exactMatch MIM:144200

Subsets

DO_rare_slim

Synonyms

EPPK1 [EXACT]

Parent Relationships

is_a epidermolytic palmoplantar keratoderma

is_a autosomal dominant disease

Add an item to the term tracker