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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:Hemihypotrophy of lower limb
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Accession:HP:0200053 term browser browse the term
Definition:Shortening of a leg affecting only one side.
Synonyms:exact_synonym: Asymmetric leg shortening;   Asymmetric lower limb shortness
 alt_id: HP:0005618
 xref: UMLS:C1844734


show annotations for term's descendants           Sort by:
Hemihypotrophy of lower limb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73897
    Phenotypic abnormality 73592
      Growth abnormality 3838
        Asymmetric growth 78
          Hemiatrophy 6
            Hemihypotrophy of lower limb 4
Path 2
Term Annotations click to browse term
  Human phenotype 73897
    Phenotypic abnormality 73592
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8610
          Abnormal skeletal morphology 8026
            Aplasia/hypoplasia involving the skeleton 1248
              Aplasia/hypoplasia of the extremities 740
                Limb undergrowth 251
                  Hemiatrophy 6
                    Hemihypotrophy of lower limb 4
paths to the root