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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


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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:25741868 PMID:28492532 PMID:30609410 NCBI chr 7:150,441,385...150,513,391
Ensembl chr 7:161,905,762...161,977,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Kahn-Kahn-Katsanis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              Neurodevelopmental Disorders 6850
                Kahn-Kahn-Katsanis Syndrome 1
paths to the root