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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:Sacral segmentation defect
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Accession:HP:0008490 term browser browse the term
Synonyms:xref: UMLS:C1850329


show annotations for term's descendants           Sort by:
Abnormal sacral segmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
Bifid sacrum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO MIM:176450 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
Hemisacrum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO MIM:176450 ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8604
          Abnormal skeletal morphology 8021
            Abnormal axial skeleton morphology 3386
              Abnormality of the vertebral column 2061
                Abnormal sacrum morphology 168
                  Sacral segmentation defect 3
                    Abnormal sacral segmentation 1
                    Bifid sacrum 1
                    Hemisacrum 2
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8604
          Abnormal skeletal morphology 8021
            Abnormal axial skeleton morphology 3386
              Abnormality of the vertebral column 2061
                Abnormal vertebral morphology 501
                  Vertebral segmentation defect 182
                    Sacral segmentation defect 3
                      Abnormal sacral segmentation 1
                      Bifid sacrum 1
                      Hemisacrum 2
paths to the root