| Term Name: | erythrokeratodermia variabilis et progressiva 1 |
|---|---|
| Synonyms: | |
| Definition: | An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. |
| Ontology: | Human Disease [DOID:0111195] ( DOID:0111195 ) |