Search Ontology:
Human Disease

PLACK syndrome

Term ID
DOID:0070526
Synonyms
  • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
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/
References
  • MIM:616295
  • ORDO:444138
  • SNOMEDCT_US_2023_03_01:1237509001
  • UMLS_CUI:C4225381
Ontology
Human Disease   ( DOID:0070526 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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