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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
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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.


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branchiootorenal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:30311386 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
JBrowse link
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:2773990 PMID:9361030 PMID:9536098 PMID:9603436 PMID:10464653 More... RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD
ClinVar
PMID:19685247 PMID:30311386 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Inner ear malformation ClinVar PMID:29955957 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
G Six1 SIX homeobox 1 ISS OMIM:120502 | OMIM:602588 | OMIM:608389 MouseDO NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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:10464653 PMID:10655545 PMID:10991693 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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 term: Branchiootic syndrome 3
ClinVar Annotator: match by OMIM:608389
OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:17637804 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Six4 SIX homeobox 4 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:28492532 NCBI chr 6:91,802,328...91,816,062
Ensembl chr 6:91,802,329...91,815,992
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890
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 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Pax1 paired box 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:134,789,291...134,801,636
Ensembl chr 3:134,789,182...134,801,636
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 PMID:32111619 NCBI chr 3:134,789,291...134,801,636
Ensembl chr 3:134,789,182...134,801,636
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      branchiootorenal syndrome 10
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Otofaciocervical Syndrome 1 2
        Otofaciocervical Syndrome 2 1
        branchiootic syndrome + 5
        branchiootorenal syndrome 1 2
        branchiootorenal syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                branchiootorenal syndrome 10
                  Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                  Otofaciocervical Syndrome 1 2
                  Otofaciocervical Syndrome 2 1
                  branchiootic syndrome + 5
                  branchiootorenal syndrome 1 2
                  branchiootorenal syndrome 2 1
paths to the root