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Metadata
ID DOID:0060715
Name autosomal recessive congenital ichthyosis 6
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.
https://www.ncbi.nlm.nih.gov/pubmed/16436457, https://www.ncbi.nlm.nih.gov/pubmed/17557927
Xrefs

ICD10CM:Q80.2

OMIM:612281

Subsets

DO_rare_slim

Synonyms

ARCI6 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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