NEUROFIBROMATOSIS, TYPE II

NEUROFIBROMATOSIS, CENTRAL TYPE

http://purl.bioontology.org/ontology/OMIM/101000

NEUROFIBROMATOSIS, CENTRAL TYPE

ACN

ACOUSTIC SCHWANNOMAS, BILATERAL

BILATERAL ACOUSTIC NEUROFIBROMATOSIS

NF2

BANF

ACOUSTIC NEURINOMA, BILATERAL

C1136043

C0027832

C1136042

22q12.2

NF2

http://purl.bioontology.org/ontology/OMIM/MTHU041137

http://purl.bioontology.org/ontology/OMIM/MTHU016131

http://purl.bioontology.org/ontology/OMIM/MTHU008962

http://purl.bioontology.org/ontology/OMIM/MTHU019821

http://purl.bioontology.org/ontology/OMIM/MTHU043236

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU036347

http://purl.bioontology.org/ontology/OMIM/MTHU003590

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU019823

http://purl.bioontology.org/ontology/OMIM/MTHU011462

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU019820

http://purl.bioontology.org/ontology/OMIM/MTHU041138

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU016867

http://purl.bioontology.org/ontology/OMIM/MTHU036354

http://purl.bioontology.org/ontology/OMIM/MTHU003968

http://purl.bioontology.org/ontology/OMIM/MTHU019822

Phenotype description, molecular basis known.

101000

3

pound

NEUROFIBROMATOSIS, TYPE II

Approximately half of the mutations are de novo [MISCELLANEOUS]

Nearly 100% penetrance by 60 years of age [MISCELLANEOUS]

Caused by mutations in neurofibromin 2 (NF2, 607379.0001) [MOLECULAR BASIS]

Incidence of 1 in 25,000 livebirths [MISCELLANEOUS]

T191