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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:Limitation of movement at ankles
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Accession:HP:0010505 term browser browse the term
Definition:An abnormal limitation of the mobility of the ankle joint.
Synonyms:xref: UMLS:C4023800


show annotations for term's descendants           Sort by:
Limitation of movement at ankles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:100988 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:98794 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormal musculoskeletal physiology 1763
          Abnormal joint physiology 1430
            Abnormality of joint mobility 1430
              Limitation of joint mobility 423
                Limitation of movement at ankles 7
                  Limited ankle dorsiflexion 0
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal joint morphology 1369
              Abnormality of lower limb joint 742
                Abnormality of the ankle 190
                  Abnormal ankle physiology 68
                    Limitation of movement at ankles 7
                      Limited ankle dorsiflexion 0
paths to the root