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ONTOLOGY REPORT - ANNOTATIONS


Term:Bardet-Biedl syndrome
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Accession:DOID:1935 term browser browse the term
Definition:An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Synonyms:related_synonym: BARDET-BIEDL SYNDROME, MODIFIER OF
 primary_id: MESH:D020788;   RDO:0003826
 xref: GARD:6866;   NCI:C118632;   OMIM:PS209900;   ORDO:110
For additional species annotation, visit the Alliance of Genome Resources.


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Bardet-Biedl syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:1578724
RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:1579969
RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:11352646
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:70665
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:1579974
RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:1579975
RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684996
RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:9685059
RGD:8554872
G Cep19 centrosomal protein 19 JBrowse link 11 71,921,713 71,938,335 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:11554173
G Eml5 EMAP like 5 JBrowse link 6 122,768,939 122,898,046 RGD:8554872
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 JBrowse link 12 4,546,240 4,546,871 RGD:8554872
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:8554872
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:1601414
RGD:8554872
RGD:1581208
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:11070512
RGD:8554872
RGD:11554173
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11352646
G Psmd1 proteasome 26S subunit, non-ATPase 1 JBrowse link 9 93,080,618 93,155,033 RGD:8554872
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 JBrowse link 6 122,656,500 122,721,496 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11070512
RGD:8554872
RGD:11554173
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:1624129
RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:1624198
RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zc3h14 zinc finger CCCH type containing 14 JBrowse link 6 122,729,834 122,767,462 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
RGD:7240710
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:7240710
RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
Bardet-Biedl syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:7240710
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
RGD:7240710
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
Bardet-Biedl syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome 2/4, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
Bardet-Biedl Syndrome 2/6, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
Bardet-Biedl syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
Bardet-Biedl syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 JBrowse link 5
5
24,145,829
23,358,464
24,165,467
23,377,697
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Bardet-Biedl syndrome 41
        Bardet-Biedl Syndrome, 20 1
        Bardet-Biedl Syndrome, 21 1
        Bardet-Biedl syndrome 1 + 16
        Bardet-Biedl syndrome 10 + 1
        Bardet-Biedl syndrome 11 2
        Bardet-Biedl syndrome 12 1
        Bardet-Biedl syndrome 13 1
        Bardet-Biedl syndrome 14 2
        Bardet-Biedl syndrome 15 1
        Bardet-Biedl syndrome 16 1
        Bardet-Biedl syndrome 17 3
        Bardet-Biedl syndrome 18 1
        Bardet-Biedl syndrome 19 1
        Bardet-Biedl syndrome 2 + 2
        Bardet-Biedl syndrome 3 1
        Bardet-Biedl syndrome 4 + 2
        Bardet-Biedl syndrome 5 1
        Bardet-Biedl syndrome 6 + 3
        Bardet-Biedl syndrome 7 + 2
        Bardet-Biedl syndrome 8 1
        Bardet-Biedl syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            thalamic disease 196
              hypothalamic disease 196
                Bardet-Biedl syndrome 41
                  Bardet-Biedl Syndrome, 20 1
                  Bardet-Biedl Syndrome, 21 1
                  Bardet-Biedl syndrome 1 + 16
                  Bardet-Biedl syndrome 10 + 1
                  Bardet-Biedl syndrome 11 2
                  Bardet-Biedl syndrome 12 1
                  Bardet-Biedl syndrome 13 1
                  Bardet-Biedl syndrome 14 2
                  Bardet-Biedl syndrome 15 1
                  Bardet-Biedl syndrome 16 1
                  Bardet-Biedl syndrome 17 3
                  Bardet-Biedl syndrome 18 1
                  Bardet-Biedl syndrome 19 1
                  Bardet-Biedl syndrome 2 + 2
                  Bardet-Biedl syndrome 3 1
                  Bardet-Biedl syndrome 4 + 2
                  Bardet-Biedl syndrome 5 1
                  Bardet-Biedl syndrome 6 + 3
                  Bardet-Biedl syndrome 7 + 2
                  Bardet-Biedl syndrome 8 1
                  Bardet-Biedl syndrome 9 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.