Term Name: | autosomal recessive congenital ichthyosis 14 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080258] ( DOID:0080258 ) |