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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 middle phalanx of the 3rd toe
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Accession:HP:0100381 term browser browse the term
Definition:Developmental aplasia of the middle phalanx of third toe.
Synonyms:exact_synonym: Absent middle bone of the 3rd toe;   Absent middle phalanx of the third toe;   Aplasia of the middle phalanx of the 3rd toe
 xref: UMLS:C4021010



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Absent middle phalanx of the 3rd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO MIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73832
    Phenotypic abnormality 73527
      Abnormality of limbs 3148
        Abnormality of the lower limb 2185
          Abnormal lower limb bone morphology 847
            Aplasia/hypoplasia involving bones of the lower limbs 402
              Aplasia involving bones of the lower limbs 16
                Aplasia of the phalanges of the toes 8
                  Aplasia of the phalanges of the 3rd toe 2
                    Absent middle phalanx of the 3rd toe 1
Path 2
Term Annotations click to browse term
  Human phenotype 73832
    Phenotypic abnormality 73527
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8607
          Abnormal skeletal morphology 8023
            Abnormal appendicular skeleton morphology 2149
              Abnormal limb bone morphology 1982
                Abnormal lower limb bone morphology 847
                  Aplasia/hypoplasia involving bones of the lower limbs 402
                    Aplasia/Hypoplasia involving bones of the feet 300
                      Aplasia/Hypoplasia of toe 139
                        Absent toe 70
                          Aplasia/Hypoplasia of the 3rd toe 4
                            Aplasia of the phalanges of the 3rd toe 2
                              Absent middle phalanx of the 3rd toe 1
paths to the root