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 10 ID (Ontology) DOID:0060719 (Human Disease)
Definition An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
Also Known As "ARCI10"
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 Genes
 autosomal recessive congenital ichthyosis 10       2
 for disease ribbon | autosomal recessive congenital ichthyosis 10       2
 model of | autosomal recessive congenital ichthyosis 10       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 10  2 rec.
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Is a autosomal recessive congenital ichthyosis
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Synonyms
  • "ARCI10" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q80.2
MIM:615024