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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperferritinemia-cataract syndrome
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Accession:DOID:0111256 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Bonneau-Beaumont syndrome;   HHCS;   HRFTC;   dominant hyperferritinemia and cataract;   hereditary hyperferritinemia with congenital cataracts;   hereditary hyperferritinemia-cataract syndrome;   hyperferritinemia with or without cataract
 primary_id: MESH:C538137
 alt_id: OMIM:600886
 xref: GARD:2806;   ORDO:163

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Path 1
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  disease 15285
    syndrome 9981
      hyperferritinemia-cataract syndrome 2
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  hyperferritinemia-cataract syndrome 2
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