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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:Progressive Leukodystrophy, Early Childhood-Onset
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Accession:DOID:9009078 term browser browse the term
Synonyms:exact_synonym: PLDECO;   early childhood-onset progressive leukodystrophy
 primary_id: OMIM:617762



show annotations for term's descendants           Sort by:
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer3 alkaline ceramidase 3 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET OMIM
ClinVar
PMID:25741868 PMID:26792856 PMID:28492532 PMID:30575723 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            cerebral degeneration 646
              leukodystrophy 252
                Progressive Leukodystrophy, Early Childhood-Onset 1
paths to the root