Term Name: | autosomal recessive congenital ichthyosis 8 |
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Synonyms: | ARCI8, lamellar ichthyosis 4, late-onset lamellar ichthyosis |
Definition: | An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. |
Ontology: | Human Disease [DOID:0060717] ( DOID:0060717 ) |