Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive congenital ichthyosis 6
DOID:0060715
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • ARCI6
Cross References
Parent Terms
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None
Sources of Associations

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