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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:Areflexia of upper limbs
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Accession:HP:0012046 term browser browse the term
Definition:Inability to elicit tendon reflexes in the upper limbs.
Synonyms:xref: UMLS:C2674177


show annotations for term's descendants           Sort by:
Areflexia of upper limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:616155 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:619574 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 IAGP HPO OMIM:616291 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO OMIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
Brachioradialis areflexia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase IAGP HPO OMIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of limbs 2552
        Abnormality of the upper limb 1821
          Areflexia of upper limbs 7
            Biceps areflexia 0
            Brachioradialis areflexia 1
            Triceps areflexia 0
Path 2
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of the nervous system 15540
        Abnormal nervous system physiology 14428
          Abnormality of movement 2242
            Abnormal reflex 1220
              Reduced tendon reflexes 599
                Areflexia 305
                  Areflexia of upper limbs 7
                    Biceps areflexia 0
                    Brachioradialis areflexia 1
                    Triceps areflexia 0
paths to the root