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 1 ID (Ontology) DOID:0060656 (Human Disease)
Definition An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
Also Known As "ARCI1"
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 Genes
 autosomal recessive congenital ichthyosis 1       1
 for disease ribbon | autosomal recessive congenital ichthyosis 1       1
 model of | autosomal recessive congenital ichthyosis 1       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 1  1 rec.
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Is a autosomal recessive congenital ichthyosis
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Synonyms
  • "ARCI1" EXACT OMO:0003012
    "bathing suit ichthyosis" NARROW
Secondary IDs
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GARD:3170
ICD10CM:Q80.2
MIM:242300
ORDO:100976
ORDO:281122
ORDO:313