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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:Recurrent joint dislocation
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Accession:HP:0031869 term browser browse the term
Definition:Dislocation of a given joint repeated times.
Synonyms:exact_synonym: Recurrent joint dislocations



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Recurrent joint dislocation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 IAGP ORPHA:2953 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:619115 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP OMIM:130010 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G DSE dermatan sulfate epimerase IAGP ORPHA:2953 HPO NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
Recurrent patellar dislocation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP OMIM:619143 HPO NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:178145 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
Recurrent shoulder dislocation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of the musculoskeletal system 4083
        Abnormality of the skeletal system 3355
          Abnormal skeletal morphology 3235
            Abnormal joint morphology 1194
              Joint dislocation 355
                Recurrent joint dislocation 8
                  Recurrent patellar dislocation 2
                  Recurrent shoulder dislocation 1
paths to the root