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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:Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy
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Accession:DOID:9006901 term browser browse the term
Synonyms:xref: OMIM:PS617186
For additional species annotation, visit the Alliance of Genome Resources.


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Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 OMIM
ClinVar
PMID:25741868, PMID:27290639, PMID:27616477 NCBI chr 2:187,424,319...187,426,410
Ensembl chr 2:187,424,327...187,426,375
JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 OMIM
ClinVar
PMID:30576410 NCBI chr16:83,326,228...83,342,711
Ensembl chr16:83,326,301...83,342,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Signs and Symptoms 5192
        Edema 91
          brain edema 32
            Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 1
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            brain edema 32
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2
                Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 1
                Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.