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

• OMIM:617526

Ontology

Human Disease   ( DOID:0080250 )