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ONTOLOGY REPORT - ANNOTATIONS


Term:neurofibromatosis 2
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Accession:DOID:0111252 term browser browse the term
Definition:An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Synonyms:exact_synonym: ACN;   BANF;   Bilateral Acoustic Neurinoma;   Bilateral Acoustic Neurofibromatosis;   Bilateral Acoustic Schwannoma;   Bilateral Acoustic Schwannomas;   Central NF2 Neurofibromatoses;   Central NF2 Neurofibromatosis;   Central Neurofibromatoses;   Central Neurofibromatosis;   Familial Acoustic Neuroma;   Familial Acoustic Neuromas;   NF2;   NF2 (Neurofibromatosis 2);   Neurofibromatosis II;   Neurofibromatosis Type 2;   Neurofibromatosis Type II;   Neurofibromatosis, Central, NF 2;   Neurofibromatosis, central type;   Neuroma, Acoustic, Bilateral;   bilateral acoustic neurinomas;   bilateral acoustic neurofibromatoses;   type 2 neurofibromatoses;   type II neurofibromatoses
 primary_id: MESH:D016518
 alt_id: DOID:9006866;   OMIM:101000;   RDO:0004538
 xref: GARD:7193
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neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:7240710
RGD:8554872
RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547955
RGD:8547957

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Neurocutaneous Syndromes 125
        neurofibromatosis 13
          neurofibromatosis 2 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of cellular proliferation 5796
      cancer 4113
        organ system cancer 3924
          nervous system cancer 1708
            peripheral nervous system neoplasm 130
              Nerve Sheath Neoplasms 57
                neuroma 40
                  neurilemmoma 38
                    acoustic neuroma 12
                      neurofibromatosis 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.