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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 DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma		 ClinVar
RGD		 PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      Neoplasms by Histologic Type 5320
        Glandular and Epithelial Neoplasms 3819
          astroblastoma 294
            retinoblastoma 93
              familial retinoblastoma 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Nervous System Neoplasms 1622
          Central Nervous System Neoplasms 1431
            Brain Neoplasms 1382
              brain cancer 765
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        retinoblastoma 93
                          familial retinoblastoma 1
paths to the root