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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:Partial duplication of the distal phalanx of the 3rd finger
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Accession:HP:0009968 term browser browse the term
Definition:Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
Synonyms:exact_synonym: Bifid terminal phalanx of the 3rd finger;   Notched outermost bone of the middle finger;   Partial duplication of the outermost bone of the middle finger
 xref: UMLS:C4021360


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Partial duplication of the distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101400 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
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 upper limb 1824
          Duplication of bones involving the upper extremities 258
            Duplication of hand bones 258
              Duplication of phalanx of hand 257
                Partial duplication of the phalanx of hand 44
                  Partial duplication of the phalanges of the 3rd finger 3
                    Partial duplication of the distal phalanx of the 3rd finger 2
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 limb bone morphology 1866
                Abnormal digit morphology 1635
                  Abnormal finger morphology 1290
                    Abnormal finger phalanx morphology 712
                      Duplication of phalanx of hand 257
                        Hand polydactyly 206
                          Mesoaxial hand polydactyly 12
                            Polydactyly affecting the 3rd finger 4
                              Duplication of phalanx of 3rd finger 3
                                Duplication of the distal phalanx of the 3rd finger 2
                                  Partial duplication of the distal phalanx of the 3rd finger 2
paths to the root