X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Disease ID: disease_node_19369
Connections displayed (default: 10).
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| Dbxref | MIM:300918 |
|---|---|
| Subclassof | DOID_0080012, DOID_0112011 |
| Data Source | DOID |
| Synonyms | OLMSX, X-linked Olmsted syndrome |
| Doid Label | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Doid Description | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19369 |
| Doid Id | DOID_0112012 |
| Label | X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
- Outgoing r'ship
SUBCLASS_OFto/from Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques(ID:disease_node_19367) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)