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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/Hypoplasia of the 3rd toe
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Accession:HP:0010331 term browser browse the term
Synonyms:exact_synonym: Absent/hypoplastic third toe;   Absent/small 3rd toe;   Absent/underdeveloped 3rd toe
 alt_id: HP:0008100
 xref: UMLS:C1862698


show annotations for term's descendants           Sort by:
Aplasia/Hypoplasia of the 3rd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO MIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		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 MIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
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 1:156,082,572...156,140,081 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of limbs 3147
        Abnormality of the lower limb 2184
          Abnormal foot morphology 1564
            Abnormal toe morphology 740
              Abnormal third toe morphology 10
                Aplasia/Hypoplasia of the 3rd toe 4
                  Aplasia of the phalanges of the 3rd toe + 2
                  Aplasia/Hypoplasia of the distal phalanx of the 3rd toe + 0
                  Aplasia/Hypoplasia of the middle phalanx of the 3rd toe + 1
                  Aplasia/hypoplasia of the proximal phalanx of the 3rd toe + 0
                  Short phalanx of the 3rd toe + 0
Path 2
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9765
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Aplasia/hypoplasia involving the skeleton 1249
              Aplasia/hypoplasia of the extremities 739
                Aplasia/hypoplasia involving bones of the extremities 693
                  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
                            Aplasia/Hypoplasia of the distal phalanx of the 3rd toe + 0
                            Aplasia/Hypoplasia of the middle phalanx of the 3rd toe + 1
                            Aplasia/hypoplasia of the proximal phalanx of the 3rd toe + 0
                            Short phalanx of the 3rd toe + 0
paths to the root