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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 17q11.2 deletion syndrome
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Accession:DOID:0060403 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)
Synonyms:exact_synonym: 17q11 microdeletion syndrome;   MMFD;   NF1 microdeletion syndrome;   Van Asperen syndrome;   chromosome 17q11.2 deletion syndrome, 1.4Mb;   macrocephaly, macrosomia, and facial dysmorphism syndrome;   macrocephaly, macrosomia, facial dysmorphism syndrome;   neurofibromatosis type 1 microdeletion syndrome
 primary_id: MESH:C563524
 alt_id: OMIM:613675;   OMIM:614192
 xref: ICD10CM:Q85.0;   ORDO:97685
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:11554173
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      chromosomal deletion syndrome 752
        chromosome 17q11.2 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of cellular proliferation 5888
      cancer 4221
        organ system cancer 4045
          nervous system cancer 1603
            peripheral nervous system neoplasm 129
              Nerve Sheath Neoplasms 54
                peripheral nerve sheath neoplasm 21
                  neurofibroma 20
                    neurofibromatosis 12
                      chromosome 17q11.2 deletion syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.