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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:Abnormal dense tubular system
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Accession:HP:0012491 term browser browse the term
Definition:An anomaly of the intracellular membrane complexes known as the dense tubular system.
Comment:The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form.
Synonyms:xref: UMLS:C4022881


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of blood and blood-forming tissues 0
        Abnormality of thrombocytes 0
          Abnormal platelet morphology 0
            Abnormal dense tubular system 0
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