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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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