FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term erythrokeratodermia variabilis et progressiva 1 ID (Ontology) DOID:0111195 (Human Disease)
Definition An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 erythrokeratodermia variabilis et progressiva 1       1      1
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monogenic disease
 |__erythrokeratodermia variabilis__
autosomal genetic disease           |
 |__autosomal dominant disease______|
 |__autosomal recessive disease_____|
skin disease                        |
 |__erythrokeratodermia variabilis__|
                                    erythrokeratodermia variabilis et progressiva 1  2 rec.
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Is a erythrokeratodermia variabilis
autosomal dominant disease
autosomal recessive disease
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MIM:133200