Erythrokeratodermia Variabilis Et Progressiva 3
Disease ID: disease_node_19135
Connections displayed (default: 10).
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| Dbxref | MIM:617525 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050467 |
| Data Source | DOID |
| Doid Label | erythrokeratodermia variabilis et progressiva 3 |
| Doid Description | An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19135 |
| Doid Id | DOID_0080249 |
| Label | Erythrokeratodermia Variabilis Et Progressiva 3 |
- 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)