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 | |
SKOS |
exactMatch MIM:144200 |
Subsets |
DO_rare_slim |
Synonyms |
EPPK1 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |