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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:Deformed forearm bones
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Accession:HP:0003959 term browser browse the term
Synonyms:xref: UMLS:C4025479


show annotations for term's descendants           Sort by:
Deformed forearm bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
Deformed radius term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of limbs 2606
        Abnormality of the upper limb 1841
          Abnormal forearm morphology 241
            Abnormal forearm bone morphology 238
              Deformed forearm bones 3
                Deformed radius 3
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the musculoskeletal system 4447
        Abnormality of the skeletal system 3683
          Abnormal skeletal morphology 3563
            Abnormal appendicular skeleton morphology 2013
              Abnormal limb bone morphology 1881
                Abnormal upper limb bone morphology 464
                  Abnormal forearm bone morphology 238
                    Deformed forearm bones 3
                      Deformed radius 3
paths to the root