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ONTOLOGY REPORT - ANNOTATIONS


Term:Kleefstra syndrome
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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 Subtelomeric Deletion Syndrome;   9q- Syndrome;   9q34 deletion syndrome;   9q34.3 Deletion Syndrome;   9q34.3 Microdeletion Syndrome;   Chromosome 9q34.3 Deletion Syndrome;   chromosome 9Q deletion syndrome
 primary_id: MESH:C563043
 alt_id: DOID:0070075;   OMIM:610253;   RDO:0012493
 xref: GARD:8672;   ORDO:261494
For additional species annotation, visit the Alliance of Genome Resources.


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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:7240710
RGD:8554872
RGD:9589137
RGD:9589139
RGD:9589144
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

Term paths to the root
Path 1
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  disease 14759
    syndrome 4210
      Kleefstra syndrome 3
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Kleefstra syndrome 3
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