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Human Disease

erythrokeratodermia variabilis et progressiva 4

Term ID
DOID:0080250
Synonyms
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. https://pubmed.ncbi.nlm.nih.gov/28575652/
References
Ontology
Human Disease   ( DOID:0080250 )
Relationships
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Genes Involved
Zebrafish Models