Term Name: | autosomal recessive congenital ichthyosis 5 |
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Synonyms: | ARCI5, autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis |
Definition: | An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0060714] ( DOID:0060714 ) |