Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:14702 term browser browse the term
Definition:An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Synonyms:exact_synonym: BOR syndrome;   BRANCHIOOTORENAL SPECTRUM DISORDERS;   Branchio-Oto-Renal Syndrome;   Branchio-Otorenal Syndrome;   Branchiootorenal Dysplasia;   Lee Root Fenske syndrome;   Melnick Fraser syndrome;   branchio-otorenal dysplasia
 narrow_synonym: BRANCHIOOTORENAL SYNDROME WITH CATARACT
 primary_id: MESH:D019280
 xref: GARD:10147;   NCI:C98983;   OMIM:PS166780
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
branchiootorenal syndrome 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: Melnick-Fraser syndrome
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,introns:multiple
DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human)
ClinVar
CTD
PMID:9536098 PMID:10655545 PMID:11734542 PMID:12834866 PMID:15802522 PMID:16797546 PMID:17576681 PMID:18678597 PMID:19951260 PMID:22340499 PMID:23435380 PMID:24033266 PMID:24489909 PMID:28492532, PMID:9361030, PMID:16491411, PMID:17637804 RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISO DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human)
ClinVar Annotator: match by OMIM:113650
DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human)
DNA:mutation:cds:c.364T>A (p.W122R)(human)
DNA:mutation:cds:p.E121G(mouse)
CTD
ClinVar
PMID:15141091, PMID:21280147, PMID:18330911, PMID:17637804, PMID:19389353 RGD:8554876, RGD:11064057, RGD:8554882, RGD:8554880, RGD:8554879 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
branchiootic syndrome 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: Branchiootic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10991693 PMID:24033266 PMID:25741868 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISS OMIM:120502 | OMIM:602588 | OMIM:608389 MouseDO NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
Branchiootic 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: BO syndrome 1
ClinVar Annotator: match by term: Branchiootic syndrome 1
ClinVar
OMIM
PMID:9359046 PMID:9361030 PMID:10655545 PMID:10991693 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15493068 PMID:15802522 PMID:16691597 PMID:16797546 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19951260 PMID:21280147 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23552953 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26969326 PMID:27657687 PMID:28492532 PMID:29966037 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 PMID:24033266 PMID:25741868 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
Branchiootic Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by OMIM:608389
ClinVar Annotator: match by term: Branchiootic syndrome 3
OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:17637804 PMID:18666230 PMID:19497856 PMID:21280147 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Six4 SIX homeobox 4 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:28492532 NCBI chr 6:95,984,868...95,999,709
Ensembl chr 6:95,984,868...95,998,529
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
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
ClinVar Annotator: match by term: Branchiootorenal Syndrome 1
ClinVar Annotator: match by term: Branchiootorenal syndrome 1
ClinVar
OMIM
PMID:2773990 PMID:5365063 PMID:9020840 PMID:9361030 PMID:9603436 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 PMID:11734542 PMID:15146463 PMID:15802522 PMID:16691597 PMID:16797546 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:22447252 PMID:23435380 PMID:23840632 PMID:23967202 PMID:24033266 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26969326 PMID:27657687 PMID:28492532 PMID:28832562 PMID:29500469 PMID:30937553 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISS
ISO
OMIM:113650
ClinVar Annotator: match by term: Branchiootorenal Syndrome 1
MouseDO
ClinVar
PMID:12843324 PMID:15141091 PMID:19497856 PMID:25326635 PMID:25741868 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
branchiootorenal syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six5 SIX homeobox 5 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 2 ClinVar
OMIM
PMID:17357085 PMID:21280147 PMID:25741868 PMID:27657687 NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
Otofaciocervical 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: Otofaciocervical syndrome 1
ClinVar Annotator: match by OMIM:166780
OMIM
ClinVar
PMID:9361030 PMID:10655545 PMID:10991693 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15802522 PMID:16441263 PMID:16797546 PMID:18220287 PMID:18678597 PMID:19951260 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23552953 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25741868 PMID:26310487 PMID:26467025 PMID:26489027 PMID:28492532 PMID:29966037 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Pax1 paired box 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,577,124...141,589,849
Ensembl chr 3:141,577,504...141,589,849
JBrowse link
Otofaciocervical Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Otofaciocervical syndrome 2
ClinVar Annotator: match by OMIM:615560
OMIM
ClinVar
PMID:23851939 PMID:25741868 PMID:28657137 PMID:29681087 NCBI chr 3:141,577,124...141,589,849
Ensembl chr 3:141,577,504...141,589,849
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      branchiootorenal syndrome 7
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Otofaciocervical Syndrome 1 2
        Otofaciocervical Syndrome 2 1
        branchiootic syndrome + 4
        branchiootorenal syndrome 1 2
        branchiootorenal syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                branchiootorenal syndrome 7
                  Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                  Otofaciocervical Syndrome 1 2
                  Otofaciocervical Syndrome 2 1
                  branchiootic syndrome + 4
                  branchiootorenal syndrome 1 2
                  branchiootorenal syndrome 2 1
paths to the root