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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:Kahn-Kahn-Katsanis Syndrome
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Accession:DOID:9000330 term browser browse the term
Synonyms:exact_synonym: 3K syndrome;   3KS
 primary_id: OMIM:618460
For additional species annotation, visit the Alliance of Genome Resources.


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Kahn-Kahn-Katsanis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO ClinVar Annotator: match by term: 3K SYNDROME OMIM
ClinVar
PMID:30609410 NCBI chr 6:144,291,313...144,362,454
Ensembl chr 6:144,291,974...144,363,947
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Kahn-Kahn-Katsanis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              Neurodevelopmental Disorders 4582
                Kahn-Kahn-Katsanis Syndrome 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.