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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:Cardiac amyloidosis
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Accession:HP:0030843 term browser browse the term
Definition:Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
Comment:The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis.
Synonyms:exact_synonym: Amyloid cardiomyopathy
 alt_id: HP:0200126
 xref: EFO:1001984;   SNOMEDCT_US:16573007;   UMLS:C0268407


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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of metabolism/homeostasis 0
        Amyloidosis 0
          Cardiac amyloidosis 0
            Monoclonal light chain cardiac amyloidosis 0
            Transthyretin cardiac amyloidosis 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormal cardiovascular system morphology 0
          Abnormal heart morphology 0
            Abnormal myocardium morphology 0
              Cardiac amyloidosis 0
                Monoclonal light chain cardiac amyloidosis 0
                Transthyretin cardiac amyloidosis 0
paths to the root