ONTOLOGY REPORT - ANNOTATIONS


Term:neurofibromatosis
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Accession:DOID:8712 term browser browse the term
Definition:A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Synonyms:exact_synonym: Multiple Neurofibroma;   Multiple Neurofibromas;   Neurofibromatosis 3;   Neurofibromatosis 3s;   Neurofibromatosis Syndrome;   Neurofibromatosis Syndromes;   Neurofibromatosis Type 3;   Recklinghausen's neurofibromatosis;   acoustic neurofibromatosis;   central Neurofibromatosis;   neurofibromatoses;   neurofibromatosis type 2;   neurofibromatosis type 4;   neurofibromatosis type IV;   peripheral neurofibromatosis;   type IV neurofibromatosis of Riccardi;   von Reklinghausen disease
 primary_id: MESH:D017253
 alt_id: RDO:0002281
 xref: GARD:10420;   ORDO:636;   ORDO:637;   ORDO:93921
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neurofibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:11554173
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:13592920
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb 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:8554872
neurilemmomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Derl3 derlin 3 JBrowse link 20 13,692,102 13,707,645 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:7240710
RGD:8554872
RGD:11554173
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:7240710
RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
RGD:11554173
Neurofibromatosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483542
G Evi2a ecotropic viral integration site 2A JBrowse link 10 66,870,048 66,873,948 RGD:8554872
G Evi2b ecotropic viral integration site 2B JBrowse link 10 66,856,980 66,858,598 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:1302540
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1580933
G Omg oligodendrocyte-myelin glycoprotein JBrowse link 10 66,845,654 66,848,388 RGD:8554872
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547970
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
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Neurofibromatosis-Noonan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of cellular proliferation 5577
      Hereditary Neoplastic Syndromes 647
        neurofibromatosis 12
          NF1 Microduplication Syndrome 0
          Neurofibromatosis 1 + 7
          Neurofibromatosis 2 2
          Neurofibromatosis Type 5 0
          Neurofibromatosis, Familial Intestinal 0
          Neurofibromatosis, Familial Spinal 1
          Neurofibromatosis, Type 3, Mixed Central and Peripheral 0
          Neurofibromatosis, Type 4, of Riccardi 0
          Neurofibromatosis-Noonan Syndrome 1
          Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 0
          chromosome 17q11.2 deletion syndrome, 1.4Mb 1
          neurilemmomatosis 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of cellular proliferation 5577
      cancer 3970
        organ system cancer 3781
          nervous system cancer 1622
            peripheral nervous system neoplasm 129
              Nerve Sheath Neoplasms 56
                peripheral nerve sheath neoplasm 21
                  neurofibroma 20
                    neurofibromatosis 12
                      NF1 Microduplication Syndrome 0
                      Neurofibromatosis 1 + 7
                      Neurofibromatosis 2 2
                      Neurofibromatosis Type 5 0
                      Neurofibromatosis, Familial Intestinal 0
                      Neurofibromatosis, Familial Spinal 1
                      Neurofibromatosis, Type 3, Mixed Central and Peripheral 0
                      Neurofibromatosis, Type 4, of Riccardi 0
                      Neurofibromatosis-Noonan Syndrome 1
                      Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 0
                      chromosome 17q11.2 deletion syndrome, 1.4Mb 1
                      neurilemmomatosis 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.