WormBase Tree Display for DO_term: DOID:0080248
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| DOID:0080248 | Name | erythrokeratodermia variabilis et progressiva 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Parent | Is_a | DOID:0050467 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 617524 |
