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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:Absent knee epiphyses
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Accession:HP:0006400 term browser browse the term
Synonyms:exact_synonym: Absent knee end part
 xref: UMLS:C1859462



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Absent knee epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the lower limb 1864
          Abnormality of lower limb joint 742
            Abnormality of the knee 427
              Abnormal knee morphology 365
                Absent knee epiphyses 1
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal long bone morphology 794
                Abnormal epiphysis morphology 282
                  Absent epiphyses 25
                    Absent knee epiphyses 1
paths to the root