Term Name: | erythrokeratodermia variabilis et progressiva 1 |
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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 ) |