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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:vestibular schwannomatosis
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Accession:DOID:0111252 term browser browse the term
Definition:A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)
Synonyms:exact_synonym: ACN;   BANF;   BILATERAL VESTIBULAR SCHWANNOMA;   Bilateral Acoustic Neurinoma;   Bilateral Acoustic Neurofibromatosis;   Bilateral Acoustic Schwannoma;   Central NF2 Neurofibromatoses;   Central NF2 Neurofibromatosis;   Central Neurofibromatosis;   Familial Acoustic Neuroma;   Familial Acoustic Neuromas;   NF2;   NF2 (neurofibromatosis 2);   NF2-related schwannomatosis;   Neurofibromatosis II;   Neurofibromatosis Type 2;   Neurofibromatosis, Central, NF 2;   Neurofibromatosis, central type;   SWN3;   SWNV;   acoustic neurofibromatosis;   bilateral acoustic neurinomas;   bilateral acoustic neurofibromatoses;   bilateral acoustic neuroma;   bilateral acoustic schwannomas;   central neurofibromatoses;   neurofibromatosis 2;   neurofibromatosis type II;   schwannomatosis 3;   type 2 neurofibromatoses;   type II neurofibromatoses
 primary_id: MESH:D016518
 alt_id: OMIM:101000
 xref: EFO:0004122;   GARD:7193;   ICD10CM:Q85.02;   ICD9CM:237.72;   MONDO:0007039;   NCI:C3274;   ORDO:637


show annotations for term's descendants           Sort by:
vestibular schwannomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,587,698...4,635,699
Ensembl chr11:4,587,747...4,635,699 		JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,686,892...4,697,179
Ensembl chr11:4,686,892...4,696,778 		JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,478,887...5,492,217
Ensembl chr11:5,478,887...5,492,187 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,056,265...5,102,322
Ensembl chr11:5,056,265...5,102,257 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,004,131...5,015,351
Ensembl chr11:5,004,132...5,015,327 		JBrowse link
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,225,262...5,225,571 JBrowse link
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,867...4,544,863 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nf2 neurofibromin 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:multiple:multiple (human)
OMIM:101000
ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708704, RGD:151708708 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,823,951...4,844,201
Ensembl chr11:4,823,951...4,844,200 		JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,008,128...5,010,385
Ensembl chr11:5,008,128...5,010,385 		JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,048,282...5,056,100
Ensembl chr11:5,048,926...5,056,093 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867 		JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,651,968...4,654,344
Ensembl chr11:4,651,973...4,654,342 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO		 RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,654,671...4,687,669
Ensembl chr11:4,654,678...4,687,669 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      RASopathy 258
        schwannomatosis 25
          vestibular schwannomatosis 24
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Neurologic Manifestations 9852
          sensory system disease 6828
            skin disease 3911
              Skin Abnormalities 1302
                ectodermal dysplasia 546
                  Neurocutaneous Syndromes 362
                    neurofibromatosis 55
                      schwannomatosis 25
                        vestibular schwannomatosis 24
paths to the root