FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive congenital ichthyosis 6 ID (Ontology) DOID:0060715 (Human Disease)
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.
Also Known As "ARCI6"
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 autosomal recessive congenital ichthyosis 6       1
 for disease ribbon | autosomal recessive congenital ichthyosis 6       1
 model of | autosomal recessive congenital ichthyosis 6       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 6  1 rec.
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Is a autosomal recessive congenital ichthyosis
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Synonyms
  • "ARCI6" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q80.2
MIM:612281