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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:Kleefstra syndrome 2
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Accession:DOID:0080598 term browser browse the term
Definition:A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: KLEFS2
 narrow_synonym: KLEEFSTRA SYNDROME DUE TO A POINT MUTATION
 primary_id: OMIM:617768
 xref: ORDO:261652
For additional species annotation, visit the Alliance of Genome Resources.



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Kleefstra syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 2
ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation
ClinVar Annotator: match by term: Kleefstra syndrome 2
ClinVar
OMIM
PMID:22726846 PMID:22832583 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Kleefstra syndrome 77
        Kleefstra syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    Kleefstra syndrome 77
                      Kleefstra syndrome 2 1
paths to the root