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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Leukoencephalomyelopathy
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Accession:DOID:9007548 term browser browse the term
Definition:A recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). (www.vetmed.umn.edu)
Synonyms:exact_synonym: LEMP
 primary_id: OMIA:001788
For additional species annotation, visit the Alliance of Genome Resources.



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Leukoencephalomyelopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO Leukoencephalomyelopathy OMIA PMID:886368 PMID:1429164 PMID:2735894 PMID:3727341 PMID:6730216 More... NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        neurodegenerative disease 3902
          Nervous System Heredodegenerative Disorders 2394
            Leukoencephalomyelopathy 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Leukoencephalomyelopathy 1
paths to the root