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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:Hyporeflexia of upper limbs
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Accession:HP:0012391 term browser browse the term
Definition:Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Synonyms:xref: UMLS:C1836835


show annotations for term's descendants           Sort by:
Hyporeflexia of upper limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 IAGP HPO OMIM:618960 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO OMIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP HPO OMIM:615705 NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:178145 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 IAGP HPO OMIM:609056 NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the upper limb 1824
          Hyporeflexia of upper limbs 9
            Biceps hyporeflexia 0
            Brachioradialis hyporeflexia 0
            Triceps hyporeflexia 0
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system physiology 14480
          Abnormality of movement 2272
            Abnormal reflex 1247
              Reduced tendon reflexes 602
                Hyporeflexia 407
                  Hyporeflexia of upper limbs 9
                    Biceps hyporeflexia 0
                    Brachioradialis hyporeflexia 0
                    Triceps hyporeflexia 0
paths to the root