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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:Abnormal upper to lower segment ratio
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Accession:HP:0012772 term browser browse the term
Definition:A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
Synonyms:xref: UMLS:C4022728


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Increased upper to lower segment ratio term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
Reduced upper to lower segment ratio term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Growth abnormality 3434
        Abnormality of body height 1752
          Abnormal upper to lower segment ratio 3
            Increased upper to lower segment ratio 2
            Reduced upper to lower segment ratio 1
paths to the root