Autosomal Domit Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Disease ID: disease_node_19368
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| Dbxref | MIM:614594 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112011 |
| Data Source | DOID |
| Synonyms | OLMS1, Olmsted syndrome 1, autosomal dominant Olmsted syndrome |
| Doid Label | autosomal domit mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Doid Description | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19368 |
| Doid Id | DOID_0112013 |
| Label | Autosomal Domit Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques(ID:disease_node_19367) (Disease)