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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;   RDO:0004641
For additional species annotation, visit the Alliance of Genome Resources.



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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:27127721 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Karak Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            cerebral degeneration 378
              neuroaxonal dystrophy 69
                Karak Syndrome 1
paths to the root