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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:A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. (DO)
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: EFO:1001251;   GARD:10147;   MONDO:0007029;   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 Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:28492532 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
ISS		 ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome
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)		 MouseDO
ClinVar
CTD
RGD		 PMID:2773990 PMID:9020840 PMID:9361030 PMID:9536098 PMID:9603436 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
ISS		 DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | 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)
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)		 MouseDO
ClinVar
CTD
RGD		 PMID:18330911 PMID:24164807 PMID:25741868 PMID:15141091 PMID:21280147 More... 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...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic dysplasia		 CTD
ClinVar		 PMID:9361030 PMID:10464653 PMID:10991693 PMID:15146463 PMID:18220287 More... 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
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 OMIM
ClinVar		 PMID:9359046 PMID:9361030 PMID:9536098 PMID:10464653 PMID:10655545 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 Mnat1 MNAT1 component of CDK activating kinase ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:91,814,703...91,971,945
Ensembl chr 6:91,814,749...91,970,744 		JBrowse link
G Six1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic syndrome 3		 OMIM
CTD
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 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:25414181 PMID:28492532 NCBI chr 6:91,802,328...91,816,002
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:25414181 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555 		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 OMIM
ClinVar		 PMID:2773990 PMID:5365063 PMID:9020840 PMID:9361030 PMID:9536098 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: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal 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
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 OMIM
ClinVar		 PMID:17357085 PMID:21280147 PMID:24429398 PMID:25741868 PMID:26467025 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otofaciocervical syndrome 1		 OMIM
CTD
ClinVar		 PMID:9361030 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11734542 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 3:134,792,330...134,801,637
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 OMIM
ClinVar		 PMID:1889089 PMID:23851939 PMID:25741868 PMID:28492532 PMID:28657137 More... NCBI chr 3:134,792,330...134,801,637
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 21118
    syndrome 10725
      branchiootorenal syndrome 13
        BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Otofaciocervical Syndrome 1 2
        Otofaciocervical Syndrome 2 1
        branchiootic syndrome + 7
        branchiootorenal syndrome 1 2
        branchiootorenal syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          monogenic disease 10256
            autosomal genetic disease 9403
              autosomal dominant disease 6168
                branchiootorenal syndrome 13
                  BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
                  Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                  Otofaciocervical Syndrome 1 2
                  Otofaciocervical Syndrome 2 1
                  branchiootic syndrome + 7
                  branchiootorenal syndrome 1 2
                  branchiootorenal syndrome 2 1
paths to the root