Search Ontology:
Human Disease

hyperferritinemia-cataract syndrome

Term ID
DOID:0111256
Synonyms
  • Bonneau-Beaumont syndrome
  • cataract-hyperferritinemia syndrome
  • hereditary hyperferritinemia with congenital cataracts
  • hereditary hyperferritinemia-cataract syndrome
  • HHCS
  • HRFTC
  • hyperferritinemia with or without cataract
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. (2)
References
Ontology
Human Disease   ( DOID:0111256 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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