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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:Phocomelia
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Accession:HP:0009829 term browser browse the term
Definition:Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Synonyms:alt_id: HP:0002994
 xref: MEDDRA:10034923 "Phocomelia";   MSH:D004480;   SNOMEDCT_US:22841008;   UMLS:C0031575


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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Aplasia/hypoplasia of the extremities 0
          Phocomelia 0
            Lower limb phocomelia 0
            Tetraphocomelia 0
            Upper limb phocomelia 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormality of skeletal morphology 0
            Aplasia/hypoplasia involving the skeleton 0
              Aplasia/hypoplasia of the extremities 0
                Phocomelia 0
                  Lower limb phocomelia 0
                  Tetraphocomelia 0
                  Upper limb phocomelia 0
paths to the root