Term Name: | autosomal recessive congenital ichthyosis 6 |
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Synonyms: | ARCI6 |
Definition: | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. |
Ontology: | Human Disease [DOID:0060715] ( DOID:0060715 ) |