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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:Synostosis involving digits
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Accession:HP:0100262 term browser browse the term
Synonyms:exact_synonym: Fusion involving digits
 xref: UMLS:C4022178


show annotations for term's descendants           Sort by:
Distal symphalangism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
Distal symphalangism of hands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93388 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93388 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO MIM:112500 ORPHA:93388 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G NOG noggin IAGP HPO MIM:185800 MIM:186570 MIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) RGD PMID:23238279 RGD:11537345 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
Distal/middle symphalangism of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2B transcription factor AP-2 beta IAGP HPO MIM:169100 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
Finger symphalangism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
Metacarpophalangeal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO MIM:185800 ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Proximal symphalangism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:610017 ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Proximal symphalangism of hands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G NOG noggin IAGP HPO MIM:185800 MIM:186570 MIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
Proximal/middle symphalangism of 4th finger 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
Proximal/middle symphalangism of 4th 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
Proximal/middle symphalangism of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO MIM:609432 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:615298 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) HPO
RGD		 PMID:16151340 MIM:184460 MIM:186500, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
Proximal/middle symphalangism of 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
Symphalangism affecting the phalanges of the hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO MIM:609432 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
Symphalangism affecting the proximal phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G GNG3 G protein subunit gamma 3 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,706,446...62,709,201
Ensembl chr11:62,707,676...62,709,201 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
Symphalangism of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Symphalangism of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the musculoskeletal system 14127
        Abnormal musculoskeletal physiology 2079
          Abnormal joint physiology 1730
            Abnormality of joint mobility 1697
              Synostosis of joints 220
                Synostosis involving digits 22
                  Distal symphalangism + 9
                  Finger symphalangism + 20
                  Proximal symphalangism + 8
                  Synostosis involving bones of the toes + 3
paths to the root