| Metadata | |
|---|---|
| ID | DOID:0112012 |
| Name | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Definition | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. https://pubmed.ncbi.nlm.nih.gov/17367233/, https://pubmed.ncbi.nlm.nih.gov/24313295/ |
| Xrefs | |
| Synonyms |
OLMSX [EXACT] X-linked Olmsted syndrome [EXACT] |
| Parent Relationships |
is_a X-linked recessive disease is_a mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |