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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:Enlargement of the ankles
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Accession:HP:0003029 term browser browse the term
Synonyms:xref: UMLS:C1838664



show annotations for term's descendants           Sort by:
 
Enlargement of the ankles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP OMIM:600081 ORPHA:289157 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:99646 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14724
    Phenotypic abnormality 14721
      Abnormality of limbs 2350
        Abnormality of the lower limb 1734
          Abnormality of lower limb joint 672
            Abnormality of the ankles 163
              Enlargement of the ankles 7
Path 2
Term Annotations click to browse term
  Human phenotype 14724
    Phenotypic abnormality 14721
      Abnormality of the musculoskeletal system 4009
        Abnormality of the skeletal system 3324
          Abnormal skeletal morphology 3203
            Abnormal joint morphology 1189
              Abnormality of lower limb joint 672
                Abnormality of the ankles 163
                  Enlargement of the ankles 7
paths to the root