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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:Cerebellar dysplasia
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Accession:HP:0007033 term browser browse the term
Definition:Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
Comment:Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations.
Synonyms:alt_id: HP:0006893
 xref: UMLS:C3278322


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the nervous system 0
        Abnormal nervous system morphology 0
          Morphological central nervous system abnormality 0
            Abnormal brain morphology 0
              Abnormal hindbrain morphology 0
                Abnormal metencephalon morphology 0
                  Abnormal cerebellum morphology 0
                    Cerebellar dysplasia 0
                      Dysplasia of the superior cerebellar vermis 0
                      Global cerebellar dysplasia 0
                      Superior cerebellar dysplasia 0
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