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
Accession: DOID:0111252
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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
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321
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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 PMID:28492532 More...
NCBI chrNW_004624747:6,103,219...6,150,011
Ensembl chrNW_004624747:6,105,753...6,149,987
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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 PMID:28492532 More...
NCBI chrNW_004624747:6,032,039...6,043,495
Ensembl chrNW_004624747:6,031,958...6,042,750
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,103,502...5,119,726
Ensembl chrNW_004624747:5,103,407...5,120,336
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
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CUNH22orf31
chromosome unknown C22orf31 homolog
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,367,946...5,377,997
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,594,633...5,641,419
Ensembl chrNW_004624747:5,594,714...5,640,736
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Ewsr1
EWS RNA binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,647,741...5,676,859
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,683,107...5,688,405
Ensembl chrNW_004624747:5,684,108...5,688,124
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Hscb
HscB mitochondrial iron-sulfur cluster cochaperone
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,072,708...5,094,404
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,377,996...5,449,203
Ensembl chrNW_004624747:5,377,996...5,445,504
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LOC101708617
cytochrome b-c1 complex subunit 9
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:6,080,725...6,083,065
Ensembl chrNW_004624747:6,080,740...6,082,926
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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 PMID:28492532 More...
NCBI chrNW_004624747:6,193,859...6,335,897
Ensembl chrNW_004624747:6,278,779...6,338,438
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Nefh
neurofilament heavy chain
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM ClinVar
PMID:1479598 PMID:2543905 PMID:3313277 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:8698340 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9391890 PMID:9425229 PMID:9430655 PMID:9466988 PMID:9536098 PMID:9605590 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10220142 PMID:10691417 PMID:10712203 PMID:10777666 PMID:10970839 PMID:11085592 PMID:11129337 PMID:11448944 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12217955 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15609345 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16199547 PMID:16509493 PMID:16532029 PMID:16983642 PMID:17222329 PMID:17330926 PMID:17576681 PMID:17607601 PMID:18033041 PMID:18173316 PMID:18554169 PMID:18670066 PMID:18766994 PMID:19234911 PMID:19249154 PMID:19451225 PMID:19924781 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21294614 PMID:21563229 PMID:21671232 PMID:21906157 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23196945 PMID:23348505 PMID:23354516 PMID:23921927 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25640679 PMID:25741868 PMID:25798586 PMID:25893302 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27600092 PMID:27704245 PMID:27854218 PMID:27930734 PMID:28365909 PMID:28492532 PMID:28526081 PMID:28737257 PMID:28873162 PMID:29316957 PMID:29409008 PMID:29489754 PMID:29625052 PMID:29641532 PMID:29685074 PMID:29761250 PMID:29781505 PMID:30306255 PMID:30594554 PMID:30833958 PMID:31089872 PMID:31273341 PMID:31370276 PMID:31712784 PMID:32191290 PMID:32373528 PMID:32724039 PMID:33058421 PMID:33067351 PMID:33606809 PMID:35264596 PMID:35449021 More...
NCBI chrNW_004624747:5,923,827...6,011,276
Ensembl chrNW_004624747:5,923,834...6,011,939
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Nipsnap1
nipsnap homolog 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,875,123...5,893,668
Ensembl chrNW_004624747:5,874,226...5,894,031
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,688,569...5,691,053
Ensembl chrNW_004624747:5,688,486...5,691,137
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,641,702...5,647,808
Ensembl chrNW_004624747:5,641,855...5,647,122
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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 chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
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Thoc5
THO complex subunit 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chrNW_004624747:5,840,862...5,874,350
Ensembl chrNW_004624747:5,840,862...5,874,334
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:19587327 PMID:20406973
RGD:8547955 RGD:8547957
NCBI chrNW_004624754:15,929,414...15,943,637
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,123,085...5,128,465
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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 PMID:28492532 More...
NCBI chrNW_004624747:6,042,843...6,080,512
Ensembl chrNW_004624747:6,042,843...6,080,440
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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 PMID:28492532 More...
NCBI chrNW_004624747:5,211,894...5,366,794
Ensembl chrNW_004624747:5,211,882...5,363,172
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