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Human Disease

erythrokeratodermia variabilis et progressiva 2

Term ID
DOID:0080248
Synonyms
Definition
An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/12648223/
References
Ontology
Human Disease   ( DOID:0080248 )
Relationships
is a type of
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Genes Involved
Zebrafish Models