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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:Branchiootic Syndrome 3
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Accession:DOID:9007844 term browser browse the term
Synonyms:exact_synonym: BO Syndrome 3;   BOS3
 primary_id: MESH:C564248
 alt_id: OMIM:608389

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Branchiootic Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mnat1 MNAT1 component of CDK activating kinase ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chrNW_004936495:4,909,427...5,128,113
Ensembl chrNW_004936495:4,909,380...5,128,113 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 OMIM
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
G Six4 SIX homeobox 4 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chrNW_004936495:4,887,718...4,900,198
Ensembl chrNW_004936495:4,887,718...4,900,198 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chrNW_004936495:4,716,359...4,719,162
Ensembl chrNW_004936495:4,716,629...4,719,162 		JBrowse link
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chrNW_004936495:5,131,642...5,137,998
Ensembl chrNW_004936495:5,127,113...5,138,343 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      branchiootorenal syndrome 13
        branchiootic syndrome 7
          Branchiootic Syndrome 3 5
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal dominant disease 5828
                branchiootorenal syndrome 13
                  branchiootic syndrome 7
                    Branchiootic Syndrome 3 5
paths to the root