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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:Central nervous system axonal spheroid
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Accession:HP:0034381 term browser browse the term
Definition:Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.
Synonyms:exact_synonym: CNS axonal spheroid


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Central nervous system axonal spheroid term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF1R colony stimulating factor 1 receptor IAGP OMIM:221820 HPO NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
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  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the nervous system 10551
        Abnormal nervous system morphology 4209
          Morphological central nervous system abnormality 4062
            Central nervous system axonal spheroid 1
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