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DO Term : PLACK syndrome [DOID:0070526] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C4225381,
ORDO:444138,
SNOMEDCT_US_2023_03_01:1237509001,
616295,
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads,
OMIM:616295

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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