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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:Karak Syndrome
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Accession:DOID:9004320 term browser browse the term
Synonyms:primary_id: MESH:C548029


show annotations for term's descendants           Sort by:
Karak Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Karak syndrome ClinVar PMID:16783378 PMID:19087156 PMID:20619503 PMID:20886109 PMID:25741868 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Karak Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebral degeneration 651
              neuroaxonal dystrophy 211
                Karak Syndrome 1
paths to the root