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Metadata
ID DOID:0070526
Name PLACK syndrome
Definition An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15.
https://pubmed.ncbi.nlm.nih.gov/25683118/
Xrefs

MIM:616295

ORDO:444138

SNOMEDCT_US_2023_03_01:1237509001

UMLS_CUI:C4225381

Subsets

DO_rare_slim

Synonyms

peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [EXACT]

Parent Relationships

is_a skin disease

is_a autosomal recessive disease

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