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Metadata
ID DOID:0080766
Name erythrokeratodermia variabilis et progressiva 6
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.
https://pubmed.ncbi.nlm.nih.gov/30528822/
Xrefs

MIM:618531

Parent Relationships

is_a autosomal dominant disease

is_a erythrokeratodermia variabilis

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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