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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 null ClinVar PMID:16783378 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Karak Syndrome 1
Path 2
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
              neuroaxonal dystrophy 33
                Karak Syndrome 1
paths to the root