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Metadata
ID DOID:0080250
Name erythrokeratodermia variabilis et progressiva 4
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/
Xrefs

OMIM:617526

Parent Relationships

is_a autosomal recessive disease

is_a erythrokeratodermia variabilis

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