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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:Abnormality of the distal phalanx of the hallux
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Accession:HP:0010053 term browser browse the term
Synonyms:exact_synonym: Abnormality of the outermost bone of the big toe
 xref: UMLS:C4024083


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Aplasia of the distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Aplasia/Hypoplasia of the distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP HPO ORPHA:93387 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:488232 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO ORPHA:93387 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
Broad distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:123150 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:123150 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:113200 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
Bullet-shaped distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:1617 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP HPO ORPHA:1617 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		JBrowse link
Duplication of the distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:794 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:180750 ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
Partial duplication of the distal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CANT1 calcium activated nucleotidase 1 IAGP HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		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 toe phalanx morphology 127
                Abnormal hallux phalanx morphology 43
                  Abnormality of the distal phalanx of the hallux 12
                    Aplasia/Hypoplasia of the distal phalanx of the hallux + 5
                    Broad distal phalanx of the hallux 3
                    Bullet-shaped distal phalanx of the hallux 2
                    Curved distal phalanx of the hallux 0
                    Duplication of the distal phalanx of the hallux + 4
                    Fractured distal phalanx of pedal digit 1 0
                    Osteolytic defects of the distal phalanx of the hallux 0
                    Sclerosis of the distal phalanx of the hallux + 0
                    Symphalangism affecting the distal phalanx of the hallux 0
                    Triangular shaped distal phalanx of the hallux 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
            Abnormal appendicular skeleton morphology 2150
              Abnormal limb bone morphology 1982
                Abnormal digit morphology 1703
                  Abnormal toe morphology 740
                    Abnormal toe phalanx morphology 127
                      Abnormal hallux phalanx morphology 43
                        Abnormality of the distal phalanx of the hallux 12
                          Aplasia/Hypoplasia of the distal phalanx of the hallux + 5
                          Broad distal phalanx of the hallux 3
                          Bullet-shaped distal phalanx of the hallux 2
                          Curved distal phalanx of the hallux 0
                          Duplication of the distal phalanx of the hallux + 4
                          Fractured distal phalanx of pedal digit 1 0
                          Osteolytic defects of the distal phalanx of the hallux 0
                          Sclerosis of the distal phalanx of the hallux + 0
                          Symphalangism affecting the distal phalanx of the hallux 0
                          Triangular shaped distal phalanx of the hallux 0
paths to the root