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DO Term : hyperferritinemia-cataract syndrome [DOID:0111256] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:2806,
  • UMLS_CUI:C1833213,
  • ORDO:163,
  • SNOMEDCT_US_2023_03_01:702398007,
  • HHCS,
  • MESH:C538137,
  • 600886,
  • OMIM:600886,
  • HRFTC,
  • hereditary hyperferritinemia with congenital cataracts,
  • hyperferritinemia with or without cataract,
  • Bonneau-Beaumont syndrome,
  • hereditary hyperferritinemia-cataract syndrome,
  • cataract-hyperferritinemia syndrome
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