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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:branchiootorenal syndrome 1
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Accession:DOID:0111423 term browser browse the term
Definition:A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. (DO)
Synonyms:exact_synonym: BOR1
 primary_id: OMIM:113650


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branchiootorenal syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 1 OMIM
ClinVar		 PMID:2773990 PMID:5365063 PMID:8566479 PMID:9020840 PMID:9361030 More... NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      branchiootorenal syndrome 13
        branchiootorenal syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                branchiootorenal syndrome 13
                  branchiootorenal syndrome 1 2
paths to the root