FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperferritinemia-cataract syndrome ID (Ontology) DOID:0111256 (Human Disease)
Definition A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
Also Known As "Bonneau-Beaumont syndrome" ; "cataract-hyperferritinemia syndrome" ; "hereditary hyperferritinemia with congenital cataracts" (for all, see Synonyms field below)
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 Genes
 hyperferritinemia-cataract syndrome       3
 for disease ribbon | hyperferritinemia-cataract syndrome       3
 model of | hyperferritinemia-cataract syndrome       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                hyperferritinemia-cataract syndrome  3 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Bonneau-Beaumont syndrome" EXACT
    "cataract-hyperferritinemia syndrome" EXACT
    "hereditary hyperferritinemia with congenital cataracts" EXACT
    "hereditary hyperferritinemia-cataract syndrome" EXACT
    "HHCS" EXACT OMO:0003012
    "HRFTC" EXACT OMO:0003012
    "hyperferritinemia with or without cataract" EXACT
Secondary IDs
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GARD:2806
MESH:C538137
MIM:600886
ORDO:163
SNOMEDCT_US_2023_03_01:702398007
UMLS_CUI:C1833213