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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:Bardet-Biedl syndrome 1
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Accession:DOID:0110123 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: BBS1;   BBS1-RELATED CONDITION;   Bardet-Biedl syndrome type 1
 broad_synonym: BARDET-BIEDL SYNDROME 1/10, DIGENIC
 related_synonym: BARDET-BIEDL SYNDROME 1, MODIFIER OF
 primary_id: MESH:C537909
 alt_id: OMIM:209900
 xref: EFO:0009021;   GARD:820


show annotations for term's descendants           Sort by:
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15258860 PMID:15314642 PMID:19236846 PMID:19858128 PMID:20142850 More... NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO
ISS		 ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
OMIM:209900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12016587 PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:20177705 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of		 OMIM
CTD
ClinVar		 PMID:12677556 PMID:16327777 PMID:25741868 PMID:28492532 PMID:29127258 NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:23692385 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 More... NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 1 20
          Bardet-Biedl Syndrome 1/2, Digenic 1
          Bardet-Biedl Syndrome 1/7, Digenic 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 1 20
                    Bardet-Biedl Syndrome 1/2, Digenic 1
                    Bardet-Biedl Syndrome 1/7, Digenic 1
paths to the root