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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:Aplasia of the phalanges of the 3rd toe
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Accession:HP:0100362 term browser browse the term
Synonyms:exact_synonym: Absent digital bone of the 3rd toe
 xref: UMLS:C4022125


show annotations for term's descendants           Sort by:
Aplasia of the phalanges of the 3rd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP HPO ORPHA:2229 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
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 OMIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		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 lower limb 1864
          Abnormal foot morphology 1536
            Abnormal toe morphology 726
              Abnormal third toe morphology 9
                Aplasia/Hypoplasia of the 3rd toe 4
                  Aplasia of the phalanges of the 3rd toe 2
                    Absent distal phalanx of the 3rd toe 0
                    Absent middle phalanx of the 3rd toe 1
                    Absent proximal phalanx of the 3rd toe 0
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
            Aplasia/hypoplasia involving the skeleton 1235
              Aplasia/hypoplasia of the extremities 727
                Aplasia/hypoplasia involving bones of the extremities 679
                  Aplasia/hypoplasia involving bones of the lower limbs 390
                    Aplasia/Hypoplasia involving bones of the feet 290
                      Aplasia/Hypoplasia of toe 134
                        Absent toe 68
                          Aplasia/Hypoplasia of the 3rd toe 4
                            Aplasia of the phalanges of the 3rd toe 2
                              Absent distal phalanx of the 3rd toe 0
                              Absent middle phalanx of the 3rd toe 1
                              Absent proximal phalanx of the 3rd toe 0
paths to the root