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Ontology Browser

Term:
neurofibromatosis 2 (DOID:0111252)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
acoustic neuroma +     
neurofibromatosis +     
chromosome 17q11.2 deletion syndrome, 1.4Mb  
neurilemmomatosis  
neurofibromatosis 1 +   
neurofibromatosis 2  
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Neurofibromatosis Type 5 
Neurofibromatosis, Familial Intestinal 
Neurofibromatosis, Familial Spinal  
Neurofibromatosis, Type 3, Mixed Central and Peripheral 
Neurofibromatosis, Type 4, of Riccardi 
Neurofibromatosis-Noonan Syndrome  
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 
NF1 Microduplication Syndrome 

Synonyms
Exact Synonyms: ACN ;   BANF ;   Bilateral Acoustic Neurinoma ;   Bilateral Acoustic Neurofibromatosis ;   Bilateral Acoustic Schwannoma ;   Bilateral Acoustic Schwannomas ;   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 ;   Neuroma, Acoustic, Bilateral ;   bilateral acoustic neurinomas ;   bilateral acoustic neurofibromatoses ;   type 2 neurofibromatoses ;   type II neurofibromatoses
Primary IDs: MESH:D016518
Alternate IDs: DOID:9006866 ;   OMIM:101000 ;   RDO:0004538
Xrefs: GARD:7193
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19476995, https://www.ncbi.nlm.nih.gov/pubmed/8379998

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