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ID DOID:0080258
Name autosomal recessive congenital ichthyosis 14
Definition An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/28575648/
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MIM:617571

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is_a autosomal recessive congenital ichthyosis

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