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ONTOLOGY REPORT - ANNOTATIONS


Term:Kleefstra syndrome
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Accession:DOID:0080597 term browser browse the term
Definition:A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. (DO)
Synonyms:exact_synonym: 9q-syndrome
 xref: NCI:C129976;   OMIM:PS610253
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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: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
G Paep progestagen associated endometrial protein JBrowse link 3 2,935,396 2,938,883 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 15609
    Developmental Diseases 8986
      congenital heart disease 972
        Kleefstra syndrome 4
          Kleefstra syndrome 1 4
          Kleefstra syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    Kleefstra syndrome 4
                      Kleefstra syndrome 1 4
                      Kleefstra syndrome 2 1
paths to the root

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