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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Supernumerary bones of the axial skeleton
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Accession:HP:0009144 term browser browse the term
Synonyms:xref: UMLS:C4024573



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Cervical ribs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO OMIM:604919 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO OMIM:148050 ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO OMIM:600001 ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO OMIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
Six lumbar vertebrae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
Supernumerary ribs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:64755 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428
JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
JBrowse link
G GDF3 growth differentiation factor 3 IAGP ClinVar Annotator: match by term: Supernumerary ribs ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MTX2 metaxin 2 IAGP HPO OMIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:193500 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO OMIM:613309 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO OMIM:206900 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO OMIM:122600 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
JBrowse link
Supernumerary vertebrae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:193500 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the musculoskeletal system 4392
        Abnormality of the skeletal system 3630
          Abnormal skeletal morphology 3511
            Abnormal axial skeleton morphology 2812
              Supernumerary bones of the axial skeleton 28
                Supernumerary ribs + 27
                Supernumerary vertebrae + 5
paths to the root