Erythrokeratodermia Variabilis Et Progressiva 4
Disease ID: disease_node_19134
Connections displayed (default: 10).
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| Dbxref | MIM:617526 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050467 |
| Data Source | DOID |
| Doid Label | erythrokeratodermia variabilis et progressiva 4 |
| Doid Description | An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19134 |
| Doid Id | DOID_0080250 |
| Label | Erythrokeratodermia Variabilis Et Progressiva 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Erythrokeratodermia Variabilis(ID:disease_node_12187) (Disease)