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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:Vacuolated lymphocytes
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Accession:HP:0001922 term browser browse the term
Definition:The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Comment:Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency.
Synonyms:exact_synonym: Enlarged lysosomal vacuoles in lymphocytes;   Vacuolated blood lymphocytes
 alt_id: HP:0008147;   HP:0008329
 xref: UMLS:C1836855


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Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of blood and blood-forming tissues 0
        Abnormal leukocyte morphology 0
          Abnormal lymphocyte morphology 0
            Vacuolated lymphocytes 0
              PAS-positive lymphocyte vacuolization 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the immune system 0
        Abnormal immune system morphology 0
          Abnormal cellular immune system morphology 0
            Abnormal leukocyte morphology 0
              Abnormal lymphocyte morphology 0
                Vacuolated lymphocytes 0
                  PAS-positive lymphocyte vacuolization 0
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