FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term PLACK syndrome ID (Ontology) DOID:0070526 (Human Disease)
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.
Also Known As "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"
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autosomal genetic disease
 |__autosomal recessive disease__
integumentary system disease     |
 |__skin disease_________________|
                                 PLACK syndrome
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Is a autosomal recessive disease
skin disease
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Synonyms
  • "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" EXACT
Secondary IDs
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MIM:616295
ORDO:444138
SNOMEDCT_US_2023_03_01:1237509001
UMLS_CUI:C4225381