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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neurofibromatosis 2
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Accession:DOID:0111252 term browser browse the term
Definition:A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2. (DO)
Synonyms:exact_synonym: ACN;   BANF;   Bilateral Acoustic Neurinoma;   Bilateral Acoustic Neurofibromatosis;   Bilateral Acoustic Schwannoma;   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;   bilateral acoustic neurinomas;   bilateral acoustic neurofibromatoses;   bilateral acoustic neuroma;   bilateral acoustic schwannomas;   type 2 neurofibromatoses;   type II neurofibromatoses
 primary_id: MESH:D016518
 alt_id: OMIM:101000
 xref: GARD:7193;   ICD9CM:237.72
For additional species annotation, visit the Alliance of Genome Resources.


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neurofibromatosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 neurofibromin 2 IAGP
EXP
ClinVar Annotator: match by term: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4000972, PMID:7535084, PMID:7666400, PMID:7711726, PMID:7759081, PMID:7868131, PMID:7913580, PMID:7951231, PMID:8012353, PMID:8081368, PMID:8230593, PMID:8379998, PMID:8566958, PMID:8751853, PMID:8755919, PMID:8757035, PMID:8797533, PMID:8882871, PMID:8889506, PMID:9466988, PMID:9643284, PMID:9718334, PMID:9817921, PMID:9817927, PMID:9884492, PMID:10691417, PMID:10712203, PMID:10777666, PMID:11085592, PMID:11668501, PMID:11756419, PMID:11809806, PMID:12118253, PMID:12136076, PMID:12566519, PMID:12807969, PMID:15635074, PMID:15645494, PMID:15684865, PMID:15692946, PMID:16532029, PMID:16983642, PMID:18033041, PMID:18173316, PMID:18670066, PMID:18766994, PMID:19968670, PMID:20553997, PMID:20831745, PMID:21671232, PMID:22012890, PMID:22081132, PMID:22295085, PMID:22325036, PMID:22703879, PMID:22711605, PMID:24033266, PMID:24595234, PMID:24728327, PMID:24815379, PMID:25326635, PMID:25525159, PMID:25567352, PMID:25741868, PMID:25798586, PMID:25931164, PMID:26031996, PMID:26045165, PMID:26066488, PMID:26073919, PMID:26332594, PMID:26343386, PMID:26407091, PMID:26467025, PMID:27128293, PMID:27704245, PMID:28492532, PMID:29409008, PMID:29489754, PMID:30311386, PMID:31273341, PMID:31370276 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IMP
RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    syndrome 7887
      Neurocutaneous Syndromes 168
        neurofibromatosis 19
          neurofibromatosis 2 2
Path 2
Term Annotations click to browse term
  disease 18864
    disease of cellular proliferation 6853
      cancer 4662
        organ system cancer 4492
          nervous system cancer 1833
            peripheral nervous system neoplasm 130
              Nerve Sheath Neoplasms 51
                neuroma 28
                  neurilemmoma 28
                    acoustic neuroma 14
                      neurofibromatosis 2 2
paths to the root

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