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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 middle phalanges of the toes
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Accession:HP:0010183 term browser browse the term
Synonyms:exact_synonym: Abnormal middle bones of toe
 xref: UMLS:C4023981


show annotations for term's descendants           Sort by:
2nd-5th toe middle phalangeal hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP HPO MIM:186000 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		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 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
Aplasia/Hypoplasia of the middle phalanges of the toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO MIM:185800 MIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Broad proximal 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
Duplication of the proximal phalanx of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Short middle phalanx of the 5th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO MIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Short middle phalanx of toe 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:101600 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:101600 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 MIM:602849 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:606835 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Short proximal phalanx of hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERF ETS2 repressor factor IAGP HPO MIM:617180 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
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
Shortening of all middle phalanges of the toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:85169 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		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 toe phalanx morphology 127
                Abnormality of the middle phalanges of the toes 11
                  Abnormal morphology of the proximal phalanx of the hallux + 6
                  Abnormality of the middle phalanx of the 2nd toe + 0
                  Abnormality of the middle phalanx of the 3rd toe + 1
                  Abnormality of the middle phalanx of the 4th toe + 1
                  Abnormality of the middle phalanx of the 5th toe + 1
                  Aplasia/Hypoplasia of the middle phalanges of the toes + 6
                  Broad middle phalanges of the toes + 0
                  Bullet-shaped middle toe phalanx 0
                  Curved middle toe phalanx + 0
                  Duplication of middle phalanx of toe + 1
                  Fractured middle phalanx of pes + 0
                  Osteolytic defects of the middle phalanges of the toes + 0
                  Sclerosis of middle toe phalanx + 0
                  Short middle phalanx of toe + 5
                  Symphalangism affecting the middle phalanges of the toes + 0
                  Triangular shaped middle phalanges of the toes + 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
            Abnormal appendicular skeleton morphology 2150
              Abnormal limb bone morphology 1983
                Abnormal digit morphology 1704
                  Abnormal toe morphology 740
                    Abnormal toe phalanx morphology 127
                      Abnormality of the middle phalanges of the toes 11
                        Abnormal morphology of the proximal phalanx of the hallux + 6
                        Abnormality of the middle phalanx of the 2nd toe + 0
                        Abnormality of the middle phalanx of the 3rd toe + 1
                        Abnormality of the middle phalanx of the 4th toe + 1
                        Abnormality of the middle phalanx of the 5th toe + 1
                        Aplasia/Hypoplasia of the middle phalanges of the toes + 6
                        Broad middle phalanges of the toes + 0
                        Bullet-shaped middle toe phalanx 0
                        Curved middle toe phalanx + 0
                        Duplication of middle phalanx of toe + 1
                        Fractured middle phalanx of pes + 0
                        Osteolytic defects of the middle phalanges of the toes + 0
                        Sclerosis of middle toe phalanx + 0
                        Short middle phalanx of toe + 5
                        Symphalangism affecting the middle phalanges of the toes + 0
                        Triangular shaped middle phalanges of the toes + 0
paths to the root