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 4 ID (Ontology) DOID:0080250 (Human Disease)
Definition An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
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 erythrokeratodermia variabilis et progressiva 4       1
 for disease ribbon | erythrokeratodermia variabilis et progressiva 4       1
 model of | erythrokeratodermia variabilis et progressiva 4       1
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monogenic disease
 |__erythrokeratodermia variabilis__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
skin disease                        |
 |__erythrokeratodermia variabilis__|
                                    erythrokeratodermia variabilis et progressiva 4  1 rec.
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Is a erythrokeratodermia variabilis
autosomal recessive disease
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MIM:617526