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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:Decreased Achilles reflex
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Accession:HP:0009072 term browser browse the term
Definition:Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Synonyms:exact_synonym: Hyporeflexia at ankle joints
 xref: UMLS:C1837323


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Decreased Achilles reflex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DYSF dysferlin IAGP HPO OMIM:254130 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FBXO38 F-box protein 38 IAGP HPO OMIM:615575 NCBI chr 5:148,383,958...148,442,836
Ensembl chr 5:148,383,935...148,442,836 		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 IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO ORPHA:98912 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP HPO OMIM:613672 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO OMIM:300905 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		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 lower limb 1864
          Hyporeflexia of lower limbs 38
            Decreased Achilles reflex 10
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 lower limbs 38
                    Decreased Achilles reflex 10
paths to the root