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Pathways

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:Increased bone density with cystic changes
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Accession:HP:0005700 term browser browse the term
Synonyms:xref: UMLS:C4025151



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Increased bone density with cystic changes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP HPO ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of the musculoskeletal system 4433
        Abnormality of the skeletal system 3608
          Abnormal skeletal morphology 3483
            Abnormal bone structure 860
              Abnormal bone ossification 774
                Abnormality of bone mineral density 666
                  Increased bone mineral density 133
                    Increased bone density with cystic changes 2
paths to the root