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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:Neuromyotonia
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Accession:HP:0034351 term browser browse the term
Definition:Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.
Synonyms:exact_synonym: Peripheral nerve hyperexcitability


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Neuromyotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO MIM:137200 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
Term paths to the root
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  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the nervous system 33675
        Abnormality of the peripheral nervous system 531
          Abnormal peripheral nervous system physiology 200
            Neuromyotonia 1
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