You are using an outdated browser. Please upgrade your browser to improve your experience.

neurofibromatosis type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
Uniprot Description Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.
Mondo Term and Equivalent IDs
MONDO:0007039:  neurofibromatosis type 2
COHD:380975: 
DOID:0111252: 
GARD:0007193: 
ICD10:Q85.02: 
ICD9:237.72: 
NCIT:C3274: 
Orphanet:637: 
SCTID:92503002: 
UMLS:C0027832: