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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 15q24 deletion syndrome
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Accession:DOID:0060395 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q24 deletion;   15q24 microdeletion;   15q24 microdeletion syndrome;   Interstitial Deletion of Chromosome 15q24
 primary_id: MESH:C579849
 alt_id: OMIM:613406;   RDO:0015853
 xref: GARD:12219;   ORDO:94065
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q24 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Commd4 COMM domain containing 4 JBrowse link 8 61,833,340 61,836,872 RGD:8554872
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:8554872
G Imp3 IMP3, U3 small nucleolar ribonucleoprotein JBrowse link 8 61,607,021 61,607,909 RGD:8554872
G Man2c1 mannosidase, alpha, class 2C, member 1 JBrowse link 8 61,805,697 61,816,800 RGD:8554872
G Neil1 nei-like DNA glycosylase 1 JBrowse link 8 61,817,258 61,824,023 RGD:8554872
G Odf3l1 outer dense fiber of sperm tails 3-like 1 JBrowse link 8 61,516,249 61,542,946 RGD:8554872
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 JBrowse link 8 61,658,851 61,739,458 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
RGD:11554173
RGD:7240710
G Snupn snurportin 1 JBrowse link 8 61,614,798 61,654,809 RGD:8554872
G Snx33 sorting nexin 33 JBrowse link 8 61,584,656 61,596,055 RGD:8554872

Term paths to the root
Path 1
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  disease 14759
    syndrome 4210
      chromosomal deletion syndrome 324
        chromosome 15q24 deletion syndrome 10
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
                    chromosome 15q24 deletion syndrome 10
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