Erythrokeratodermia Variabilis Et Progressiva 2
Disease ID: disease_node_19136
Connections displayed (default: 10).
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| Dbxref | MIM:617524 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050467 |
| Data Source | DOID |
| Doid Label | erythrokeratodermia variabilis et progressiva 2 |
| Doid Description | An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19136 |
| Doid Id | DOID_0080248 |
| Label | Erythrokeratodermia Variabilis Et Progressiva 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Erythrokeratodermia Variabilis(ID:disease_node_12187) (Disease)