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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:Patchy demyelination of subcortical white matter
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Accession:HP:0002545 term browser browse the term
Definition:Patchy loss of myelin from nerve fibers in the central nervous system.
Synonyms:xref: UMLS:C1857638


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Patchy demyelination of subcortical white matter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 ORPHA:90322 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 ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the nervous system 28579
        Abnormal nervous system morphology 5274
          Abnormal myelination 697
            Abnormal CNS myelination 486
              CNS demyelination 63
                Patchy demyelination of subcortical white matter 3
paths to the root