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 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis