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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:Acromelia
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Accession:HP:0010884 term browser browse the term
Definition:Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.
Synonyms:xref: UMLS:C4023675



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Acromelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSK cathepsin K IAGP ORPHA:763 HPO NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of limbs 2443
        Aplasia/hypoplasia of the extremities 697
          Acromelia 1
            Acromelia of the lower limbs 0
            Acromelia of the upper limbs 0
Path 2
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the musculoskeletal system 4172
        Abnormality of the skeletal system 3433
          Abnormal skeletal morphology 3316
            Aplasia/hypoplasia involving the skeleton 1173
              Aplasia/hypoplasia of the extremities 697
                Acromelia 1
                  Acromelia of the lower limbs 0
                  Acromelia of the upper limbs 0
paths to the root