WormBase Tree Display for DO_term: DOID:0080249
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| DOID:0080249 | Name | erythrokeratodermia variabilis et progressiva 3 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Parent | Is_a | DOID:0050467 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 617525 |
