FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive congenital ichthyosis 5 ID (Ontology) DOID:0060714 (Human Disease)
Definition An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
Also Known As "ARCI5" ; "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal recessive congenital ichthyosis 5      10
 for disease ribbon | autosomal recessive congenital ichthyosis 5      10
 model of | autosomal recessive congenital ichthyosis 5      10
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 5  10 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive congenital ichthyosis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ARCI5" EXACT OMO:0003012
    "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q80.2
MIM:604777