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Metadata
ID DOID:0070523
Name peeling skin syndrome 4
Definition A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.
https://pubmed.ncbi.nlm.nih.gov/21944047/, https://pubmed.ncbi.nlm.nih.gov/23534700/
Xrefs

MESH:C564309

MIM:607936

SKOS

exactMatch MESH:C564309

exactMatch MIM:607936

Synonyms

AREI [BROAD]

autosomal recessive exfoliative ichthyosis [BROAD]

exfoliative ichthyosis [BROAD]

ichthyosis bullosa of Siemens-like [EXACT]

ichthyosis exfoliativa [BROAD]

PSS4 [EXACT]

Parent Relationships

is_a peeling skin syndrome

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