ONTOLOGY REPORT - ANNOTATIONS


Term:Kleefstra syndrome
go back to main search page
Accession:DOID:0060352 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
Synonyms:exact_synonym: 9q-syndrome
 xref: OMIM:PS610253
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Kleefstra syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
RGD:13592920
RGD:9589137
RGD:9589139
RGD:9589144
Kleefstra Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:7240710
RGD:8554872
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4
82,506
6,083,650
109,986
6,294,413
RGD:8554872
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 JBrowse link 13 89,585,072 89,591,278 RGD:8554872
Kleefstra Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4
82,506
6,083,650
109,986
6,294,413
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Kleefstra syndrome 3
        Kleefstra Syndrome 1 3
        Kleefstra Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Kleefstra syndrome 3
                      Kleefstra Syndrome 1 3
                      Kleefstra Syndrome 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.