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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:Peripheral dysmyelination
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Accession:HP:0003469 term browser browse the term
Definition:Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
Synonyms:xref: UMLS:C4025610


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Peripheral dysmyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G MPZ myelin protein zero IAGP HPO ORPHA:101082 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO MIM:260565 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of the nervous system 33721
        Abnormal nervous system morphology 8736
          Abnormal myelination 701
            Abnormal peripheral myelination 113
              Peripheral dysmyelination 4
paths to the root