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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:Leukodystrophy
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Accession:HP:0002415 term browser browse the term
Definition:Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Comment:The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
Synonyms:exact_synonym: Degeneration of white matter of brain
 alt_id: HP:0006926;   HP:0007079
 xref: SNOMEDCT_US:192781003;   UMLS:C0023520


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the nervous system 0
        Abnormal nervous system morphology 0
          Abnormal myelination 0
            Abnormal CNS myelination 0
              Leukodystrophy 0
                Cavitating leukodystrophy 0
                Dysmyelinating leukodystrophy 0
                Sudanophilic leukodystrophy 0
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