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 6 ID (Ontology) DOID:0080766 (Human Disease)
Definition An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
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 erythrokeratodermia variabilis et progressiva 6       1
 for disease ribbon | erythrokeratodermia variabilis et progressiva 6       1
 model of | erythrokeratodermia variabilis et progressiva 6       1
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monogenic disease
 |__erythrokeratodermia variabilis__
autosomal genetic disease           |
 |__autosomal dominant disease______|
skin disease                        |
 |__erythrokeratodermia variabilis__|
                                    erythrokeratodermia variabilis et progressiva 6  1 rec.
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Is a erythrokeratodermia variabilis
autosomal dominant disease
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MIM:618531