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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:Fragmented epiphyses of the upper limbs
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Accession:HP:0003841 term browser browse the term
Synonyms:exact_synonym: Fragmented end part of upper limb bones
 xref: UMLS:C4025559



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Fragmentation of the metacarpal epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:166002 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:166002 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14417
    Phenotypic abnormality 14415
      Abnormality of limbs 2270
        Abnormality of the upper limb 1627
          Abnormality of upper limb epiphysis morphology 57
            Fragmented epiphyses of the upper limbs 3
              Fractured distal epiphysis of radius 0
              Fragmentation of the epiphyses of the phalanges of the hand + 0
              Fragmentation of the metacarpal epiphyses + 3
Path 2
Term Annotations click to browse term
  Human phenotype 14417
    Phenotypic abnormality 14415
      Abnormality of the musculoskeletal system 3908
        Abnormality of the skeletal system 3217
          Abnormality of skeletal morphology 3102
            Abnormal appendicular skeleton morphology 1773
              Abnormality of long bone morphology 727
                Abnormality of epiphysis morphology 264
                  Abnormality of limb epiphysis morphology 125
                    Abnormality of upper limb epiphysis morphology 57
                      Fragmented epiphyses of the upper limbs 3
                        Fractured distal epiphysis of radius 0
                        Fragmentation of the epiphyses of the phalanges of the hand + 0
                        Fragmentation of the metacarpal epiphyses + 3
paths to the root