FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal recessive congenital ichthyosis 11 ID (Ontology) DOID:0060720 (Human Disease)
Definition An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
Also Known As "autosomal recessive ichthyosis with hypotrichosis" ; "hypotrichosis-congenital ichthyosis syndrome" ; "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" (for all, see Synonyms field below)
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 autosomal recessive congenital ichthyosis 11       3
 for disease ribbon | autosomal recessive congenital ichthyosis 11       3
 model of | autosomal recessive congenital ichthyosis 11       3
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
ichthyosis___________________|
                             autosomal recessive congenital ichthyosis
                              |__autosomal recessive congenital ichthyosis 11  3 rec.
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Is a autosomal recessive congenital ichthyosis
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Synonyms
  • "autosomal recessive ichthyosis with hypotrichosis" EXACT
    "hypotrichosis-congenital ichthyosis syndrome" EXACT
    "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT
    "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT
    "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT
    "ichthyosis-hypotrichosis syndrome" EXACT
    "IFAH syndrome" EXACT
    "IHS" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q80.8
MIM:602400