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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 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
ClinVar Annotator: match by OMIM:113650
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:5365063, PMID:9020840, PMID:9361030, PMID:9603436, PMID:10464653, PMID:10655545, PMID:10991693, PMID:11683347, PMID:11734542, PMID:12834866, 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, 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)
ClinVar Annotator: match by term: Melnick-Fraser syndrome
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)
ClinVar
CTD
PMID:12843324, PMID:15141091, PMID:19497856, PMID:25326635, PMID:25741868, 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 OMIM:602588
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic syndrome
ClinVar
CTD
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 ISS
ISO
OMIM:120502 | OMIM:602588 | OMIM:608389
ClinVar Annotator: match by term: Branchiootic syndrome
MouseDO
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 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
OMIM
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
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: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
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
OMIM
PMID:9020840, PMID:10464653, PMID:10991693, PMID:15146463, PMID:18220287, PMID:19951260, PMID:21280147, PMID:24033266, PMID:24489909, PMID:25741868, PMID:28492532, PMID:28832562 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:113650 MouseDO 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: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 16045
    syndrome 6991
      branchiootorenal syndrome 5
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Otofaciocervical Syndrome 1 2
        Otofaciocervical Syndrome 2 1
        branchiootic syndrome + 2
        branchiootorenal syndrome 1 2
        branchiootorenal syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                branchiootorenal syndrome 5
                  Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                  Otofaciocervical Syndrome 1 2
                  Otofaciocervical Syndrome 2 1
                  branchiootic syndrome + 2
                  branchiootorenal syndrome 1 2
                  branchiootorenal syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.