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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


show annotations for term's descendants           Sort by:
Cervical ribs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:122600 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		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 MIM: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 MIM: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 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Abnormal axial skeleton morphology 3382
              Supernumerary bones of the axial skeleton 30
                Supernumerary ribs + 29
                Supernumerary vertebrae + 5
paths to the root