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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:Symphalangism affecting the proximal phalanges of the hand
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Accession:HP:0009857 term browser browse the term
Synonyms:exact_synonym: Fused innermost hand bones
 alt_id: HP:0009873
 xref: UMLS:C4024178



show annotations for term's descendants           Sort by:
 
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 OMIM:186500 HPO 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 OMIM:609432 HPO 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 OMIM:615298 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G NOG noggin IAGP OMIM:184460
associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human)
HPO
RGD
PMID:16151340 RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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 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:24033266 PMID:24728327 PMID:25741868 PMID:28492532 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

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of limbs 2376
        Abnormality of the upper limb 1694
          Abnormality of the hand 1545
            Abnormality of finger 1174
              Abnormal finger phalanx morphology 706
                Symphalangism affecting the phalanges of the hand 23
                  Symphalangism affecting the proximal phalanges of the hand 8
                    Symphalangism affecting the proximal phalanx of the 2nd finger + 0
                    Symphalangism affecting the proximal phalanx of the 3rd finger + 0
                    Symphalangism affecting the proximal phalanx of the 4th finger + 6
                    Symphalangism affecting the proximal phalanx of the 5th finger + 3
Path 2
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Abnormal skeletal morphology 3234
            Abnormal appendicular skeleton morphology 1843
              Abnormality of limb bone morphology 1717
                Abnormal digit morphology 1514
                  Abnormality of finger 1174
                    Abnormal finger phalanx morphology 706
                      Abnormal proximal phalanx morphology of the hand 32
                        Symphalangism affecting the proximal phalanges of the hand 8
                          Symphalangism affecting the proximal phalanx of the 2nd finger + 0
                          Symphalangism affecting the proximal phalanx of the 3rd finger + 0
                          Symphalangism affecting the proximal phalanx of the 4th finger + 6
                          Symphalangism affecting the proximal phalanx of the 5th finger + 3
paths to the root