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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;   Dominant hyperferritinemia and cataract;   HHCS;   HRFTC;   Hereditary hyperferritinemia-cataract syndrome;   hereditary hyperferritinemia with congenital cataracts;   hyperferritinemia with or without cataract
 primary_id: MESH:C538137
 alt_id: OMIM:600886
 xref: GARD:2806;   ORDO:163
For additional species annotation, visit the Alliance of Genome Resources.


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hyperferritinemia-cataract syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:
ClinVar
OMIM
PMID:2336358, PMID:7492760, PMID:7493028, PMID:7669675, PMID:8233801, PMID:8781450, PMID:9226182, PMID:9292547, PMID:9414300, PMID:9414313, PMID:9726965, PMID:10366790, PMID:10366804, PMID:10383191, PMID:10759702, PMID:11703332, PMID:11849230, PMID:12199804, PMID:12200611, PMID:14662596, PMID:15690351, PMID:16900584, PMID:17182944, PMID:18414213, PMID:19176363, PMID:19800271, PMID:21907119, PMID:22881709, PMID:23300176, PMID:23421845, PMID:24766965, PMID:25741868, PMID:26633542, PMID:27096259, PMID:28492532, PMID:9292547, PMID:22020773 RGD:1598966, RGD:5509864 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      hyperferritinemia-cataract syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                hyperferritinemia-cataract syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.