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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 15q13.3 microdeletion syndrome
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Accession:DOID:0060394 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q13.3 Microdeletion;   15q13.3 Microdeletion Syndrome;   Chromosome 15q13.3 Deletion Syndrome
 primary_id: MESH:C567439;   RDO:0015507
 alt_id: OMIM:612001
 xref: GARD:10296;   ORDO:199318
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
RGD:13592920
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      chromosomal deletion syndrome 324
        chromosome 15q13.3 microdeletion syndrome 7
Path 2
Term Annotations click to browse term
  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
                    chromosome 15q13.3 microdeletion syndrome 7
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