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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:26792856 PMID:30575723 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            cerebral degeneration 269
              leukodystrophy 114
                Progressive Leukodystrophy, Early Childhood-Onset 1
paths to the root