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Metadata
ID DOID:0081108
Name keratosis palmoplantaris striata 1
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/
Xrefs

GARD:9172

MESH:C536162

MIM:148700

ORDO:369999

ORDO:370002

Subsets

DO_rare_slim

Parent Relationships

is_a keratosis palmoplantaris striata

is_a autosomal dominant disease

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