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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;   KMT2C-RELATED CONDITION;   KMT2C-RELATED NDD
 narrow_synonym: KLEEFSTRA SYNDROME DUE TO A POINT MUTATION
 primary_id: MIM:617768
 xref: ORDO:261652


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Kleefstra syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Kleefstra syndrome 2 ClinVar NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: KMT2C-related NDD | ClinVar Annotator: match by term: KMT2C-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation OMIM
ClinVar		 PMID:16199547 PMID:22726846 PMID:22832583 PMID:24033266 PMID:24728327 More... NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Kleefstra syndrome 107
        Kleefstra syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    Kleefstra syndrome 107
                      Kleefstra syndrome 2 2
paths to the root