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Human Disease

erythrokeratodermia variabilis et progressiva 6

Term ID
DOID:0080766
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080766 )
Relationships
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Genes Involved
Zebrafish Models