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Erythrokeratodermia Variabilis Et Progressiva 1

Disease ID: disease_node_19131

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DbxrefMIM:133200
SubclassofDOID_0050736, DOID_0050737, DOID_0050467
Data SourceDOID
Doid Labelerythrokeratodermia variabilis et progressiva 1
Doid DescriptionAn erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
Has Material Basis InGENO_0000147, GENO_0000148
Disease Node Iddisease_node_19131
Doid IdDOID_0111195
LabelErythrokeratodermia Variabilis Et Progressiva 1