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 2 ID (Ontology) DOID:0060710 (Human Disease)
Definition An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
Also Known As "ARCI2" ; "BROCQ congenital ichthyosiform erythroderma nonbullous form" ; "NCIE1" (for all, see Synonyms field below)
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autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 2
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Is a autosomal recessive congenital ichthyosis
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Synonyms
  • "ARCI2" EXACT OMO:0003012
    "BROCQ congenital ichthyosiform erythroderma nonbullous form" EXACT
    "NCIE1" EXACT OMO:0003012
    "nonbullous congenital ichthyosiform erythroderma 1" EXACT
Secondary IDs
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ICD10CM:Q80.2
MIM:242100