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Metadata
ID	DOID:0060715
PURL	http://purl.obolibrary.org/obo/DOID_0060715 Copy Copied!
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 MIM:612281
Subsets	DO_rare_slim
Synonyms	ARCI6 [EXACT]
Parent Relationships	is_a autosomal recessive congenital ichthyosis