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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:familial retinoblastoma
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Accession:DOID:4648 term browser browse the term
Synonyms:exact_synonym: familial retinoblastomas;   hereditary retinoblastoma;   hereditary retinoblastomas
 xref: NCI:C8495;   ORDO:357027
For additional species annotation, visit the Alliance of Genome Resources.


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familial retinoblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Hereditary retinoblastoma ClinVar PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of cellular proliferation 7153
      Neoplasms by Histologic Type 4984
        Glandular and Epithelial Neoplasms 3525
          astroblastoma 252
            retinoblastoma 90
              familial retinoblastoma 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Nervous System Neoplasms 1529
          Central Nervous System Neoplasms 1355
            Brain Neoplasms 1308
              brain cancer 708
                supratentorial cancer 443
                  cerebrum cancer 415
                    malignant astrocytoma 412
                      astroblastoma 252
                        retinoblastoma 90
                          familial retinoblastoma 1
paths to the root