Term Name:	hyperferritinemia-cataract syndrome
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.
Ontology:	Human Disease [DOID:0111256]   ( DOID:0111256 )