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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 4th toe
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Accession:HP:0010337 term browser browse the term
Synonyms:exact_synonym: Absent/small 4th toe;   Absent/underdeveloped 4th toe
 xref: UMLS:C4023895


show annotations for term's descendants           Sort by:
Aplasia of the distal phalanx of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Aplasia of the middle phalanx of the 4th 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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of limbs 3147
        Abnormality of the lower limb 2185
          Abnormal foot morphology 1565
            Abnormal toe morphology 740
              Abnormal fourth toe morphology 11
                Aplasia/Hypoplasia of the 4th toe 2
                  Aplasia of the phalanges of the 4th toe + 2
                  Aplasia/Hypoplasia of the distal phalanx of the 4th toe + 1
                  Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                  Aplasia/hypoplasia of the proximal phalanx of the 4th toe + 0
                  Short phalanx of the 4th toe + 0
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal skeletal morphology 8024
            Aplasia/hypoplasia involving the skeleton 1248
              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 4th toe 2
                            Aplasia of the phalanges of the 4th toe + 2
                            Aplasia/Hypoplasia of the distal phalanx of the 4th toe + 1
                            Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                            Aplasia/hypoplasia of the proximal phalanx of the 4th toe + 0
                            Short phalanx of the 4th toe + 0
paths to the root