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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:cataract 5 multiple types
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Accession:DOID:0110255 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)
Synonyms:exact_synonym: CAM;   CTM;   CTRCT5;   Cataract, Marner Type;   early onset cataract;   lamellar cataract;   perinuclear cataract;   zonular cataract
 primary_id: MESH:C535342
 alt_id: OMIA:001758;   OMIM:116800
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 5 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types
ClinVar Annotator: match by OMIM:116800
ClinVar Annotator: match by term: Cataract, zonular
ClinVar Annotator: match by term: Lamellar cataract
OMIM
ClinVar
PMID:3233780 PMID:12089525 PMID:15959809 PMID:16199547 PMID:18941546 More... NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
JBrowse link
G Nol3 nucleolar protein 3 ISO Cataract, early onset OMIA PMID:642468 PMID:827198 PMID:16939467 PMID:17611257 PMID:17651328 More... NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    sensory system disease 5664
      eye disease 2768
        lens disease 219
          cataract 212
            cataract 5 multiple types 3
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                cataract 5 multiple types 3
paths to the root