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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


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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, NAPEPLD-related OMIA PMID:1429164 PMID:2735894 PMID:3727341 PMID:6730216 PMID:14510327 More... NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:14,252,692...14,291,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        neurodegenerative disease 5086
          Nervous System Heredodegenerative Disorders 3381
            Leukoencephalomyelopathy 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                Leukoencephalomyelopathy 1
paths to the root