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RGD uses the Human Disease Ontology (DO, 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
PMID:25741868 PMID:28492532 PMID:30609410 NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Kahn-Kahn-Katsanis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              Neurodevelopmental Disorders 6751
                Kahn-Kahn-Katsanis Syndrome 1
paths to the root