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Metadata
ID DOID:0060717
Name autosomal recessive congenital ichthyosis 8
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.
https://www.ncbi.nlm.nih.gov/pubmed/21439540
Xrefs

ICD10CM:Q80.2

OMIM:613943

Subsets

DO_rare_slim

Synonyms

ARCI8 [EXACT]

lamellar ichthyosis 4 [EXACT]

late-onset lamellar ichthyosis [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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