keratosis palmoplantaris striata 1

Term ID

DOID:0081108

Synonyms

Definition

A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/29934816/

References

• GARD:9172
• MESH:C536162
• OMIM:148700
• ORDO:369999
• ORDO:370002

Ontology

Human Disease   ( DOID:0081108 )