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DOID:0111256 - hyperferritinemia-cataract syndrome
Disease Ontology 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.
Synonyms: Bonneau-Beaumont syndrome, HHCS, HRFTC, cataract-hyperferritinemia syndrome, hereditary hyperferritinemia with congenital cataracts, hereditary hyperferritinemia-cataract syndrome, hyperferritinemia with or without cataract,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)