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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:Generalized hyperreflexia
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Accession:HP:0007034 term browser browse the term
Synonyms:exact_synonym: Generalised hyperreflexia
 xref: UMLS:C4024949


show annotations for term's descendants           Sort by:
 
Generalized hyperreflexia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:139396 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IAGP ORPHA:101112 HPO NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ORPHA:33364 HPO NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP ORPHA:33364 HPO NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP ORPHA:33364 HPO NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP ORPHA:33364 HPO NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP ORPHA:33364 HPO NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G RNF113A ring finger protein 113A IAGP ORPHA:33364 HPO NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ORPHA:71277 HPO NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP OMIM:211500 HPO NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Generalized hyperreflexia ClinVar PMID:25741868 PMID:26374131 PMID:26467025 PMID:27790088 PMID:28492532 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ORPHA:35689 HPO NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP ORPHA:33364 HPO NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14815
    Phenotypic abnormality 14812
      Abnormality of the nervous system 10156
        Abnormal nervous system physiology 9073
          Abnormality of movement 2143
            Abnormal reflex 1172
              Hyperreflexia 749
                Generalized hyperreflexia 13
paths to the root