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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:Upper limb phocomelia
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Accession:HP:0009813 term browser browse the term
Definition:Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Synonyms:xref: SNOMEDCT_US:253926000;   UMLS:C0265573


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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
            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
                Aplasia/hypoplasia involving bones of the extremities 0
                  Aplasia/hypoplasia involving bones of the upper limbs 0
                    Upper limb phocomelia 0
paths to the root