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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:Skeletal muscle autophagosome accumulation
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Accession:HP:0025717 term browser browse the term
Definition:Abnormal accumulation of autophagosomes in skeletal muscle tissue.
Comment:Autophagy (self-eating) is a process of lysosomal degradation of long-lived proteins and damaged organelles. In macroautophagy (hereafter referred to as autophagy), double-membrane vesicles known as autophagosomes sequester cytoplasm and damaged organelles. The autophagosomes fuse with endosomes, giving rise to amphisomes, followed by fusion with lysosomes where degradation of autophagosomal contents is completed. Autophagy is a critical survival mechanism under conditions of nutrient deprivation and appears to play a role in basal protein turnover as well. Under normal conditions, autophagosomes and amphisomes are quickly degraded by lysosomes, and their content is recycled. In certain pathological states, significant accumulation of autophagosomes is observed.
Synonyms:exact_synonym: Autophagic material in muscle biopsy



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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the musculature 0
          Abnormal skeletal muscle morphology 0
            Abnormal muscle fiber morphology 0
              Skeletal muscle autophagosome accumulation 0
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