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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:acoustic neuroma
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Accession:DOID:12689 term browser browse the term
Definition:A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)
Synonyms:exact_synonym: Acoustic Neurilemoma;   Acoustic Neurilemomas;   Acoustic Neurinoma;   Acoustic Neurinomas;   Acoustic Neuromas;   Acoustic Schwannoma;   Acoustic Schwannomas;   Acoustic Tumor;   Acoustic Tumors;   Cerebellopontine Angle Acoustic Neuroma;   Melanocytic Vestibular Schwannoma;   Melanocytic Vestibular Schwannomas;   acoustic neurilemmoma;   acoustic neurilemmomas;   neurinoma of the acoustic nerve;   unilateral acoustic neuroma;   vestibular neurilemmoma;   vestibular schwannoma;   vestibular schwannomas
 primary_id: MESH:D009464
 xref: GARD:223;   NCI:C3276
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARTN artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,358,674
JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr12:43,543,020...43,548,586 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr18:50,002,921...50,009,425 JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NF2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
neurofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 neurofibromin 2 ISO OMIM NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327, PMID:20406973 RGD:8547955, RGD:8547957 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    sensory system disease 4778
      Otorhinolaryngologic Diseases 1109
        Otorhinolaryngologic Neoplasms 168
          acoustic neuroma 14
            neurofibromatosis 2 2
Path 2
Term Annotations click to browse term
  disease 12622
    disease of cellular proliferation 5455
      Neoplasms by Site 4847
        Nervous System Neoplasms 1593
          nervous system cancer 1540
            peripheral nervous system neoplasm 118
              Nerve Sheath Neoplasms 45
                neuroma 28
                  neurilemmoma 28
                    acoustic neuroma 14
                      neurofibromatosis 2 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.