erythrokeratodermia variabilis et progressiva 5

Term ID

DOID:0080251

Synonyms

Definition

An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/27965375/

References

• OMIM:617756

Ontology

Human Disease   ( DOID:0080251 )