Erythrokeratodermia Variabilis Et Progressiva 6
Disease ID: disease_node_19132
Connections displayed (default: 10).
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| Dbxref | MIM:618531 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050467 |
| Data Source | DOID |
| Doid Label | erythrokeratodermia variabilis et progressiva 6 |
| Doid Description | An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19132 |
| Doid Id | DOID_0080766 |
| Label | Erythrokeratodermia Variabilis Et Progressiva 6 |
- 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)