EditFrom NeuroLex
Neurofibromatosis 2
| Name: | Neurofibromatosis 2 |
| Description: | 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.(MeSH). |
| Synonym(s): | Neurofibromatosis Type II, Bilateral Acoustic Schwannoma, Familial Acoustic Neuroma, Bilateral Acoustic Neurofibromatosis, Neurofibromatosis Type 2, Bilateral Acoustic Neuroma, Neurofibromatosis II |
| Super-category: | Neurofibromatosis |
| Id: | birnlex_12608 |
| Link to OWL / RDF: | Download this content as OWL/RDF |
- Definition Source: MeSH
- Acronym: NF2
Facts about Neurofibromatosis 2RDF feed
| Acronym | NF2 + |
| Created | 5 October 2007 + |
| CurationStatus | uncurated + |
| Definition | An autosomal dominant disorder characteriz … 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.(MeSH). the first or second decade of life.(MeSH). |
| DefinitionSource | MeSH + |
| Id | birnlex_12608 + |
| Label | Neurofibromatosis 2 + |
| ModifiedDate | 30 May 2009 + |
| SuperCategory | Neurofibromatosis + |
| Synonym | Neurofibromatosis Type II +, Bilateral Acoustic Schwannoma +, Familial Acoustic Neuroma +, Bilateral Acoustic Neurofibromatosis +, Neurofibromatosis Type 2 +, Bilateral Acoustic Neuroma +, and Neurofibromatosis II + |