loading...| Preferred Name |
Neurofibromatosis 2 |
| Synonyms |
Neurofibromatosis, central type |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D016518 |
| altLabel |
Neurofibromatosis, central type Neurofibromatoses, Type 2 Neurofibromatoses, Central NF2 Neurofibromatosis Type 2 Type 2 Neurofibromatoses Neuroma, Acoustic, Bilateral Acoustic Neurinoma, Bilateral Acoustic Neurofibromatoses, Bilateral Acoustic Neuromas, Familial Acoustic Neuroma, Familial Neurofibromatosis, Type 2 Schwannoma, Acoustic, Bilateral Neurofibromatosis, Central, NF2 Bilateral Acoustic Schwannomas Neuromas, Familial Acoustic Acoustic Neurinomas, Bilateral Neurofibromatosis, Central Familial Acoustic Neuromas Type II Neurofibromatosis Bilateral Acoustic Schwannoma Bilateral Acoustic Neurinoma Type 2 Neurofibromatosis Central Neurofibromatosis NF2s (Neurofibromatosis 2) Bilateral Acoustic Neurofibromatosis Acoustic Neurofibromatosis, Bilateral Familial Acoustic Neuroma Neurofibromatosis II Neurofibromatosis Type II Type II Neurofibromatoses Acoustic Schwannomas, Bilateral Central Neurofibromatoses Neurofibromatoses, Type II Bilateral Acoustic Neurofibromatoses Neurofibromatoses, Bilateral Acoustic Neurofibromatosis, Type II Neurofibromatosis, Bilateral Acoustic Neurofibromatosis, Acoustic, Bilateral Schwannoma, Bilateral Acoustic Neurinoma, Bilateral Acoustic Neurofibromatosis IIs Central NF2 Neurofibromatoses Neurofibromatosis, Central NF2 Neurofibromatoses, Central NF2 (Neurofibromatosis 2) Central NF2 Neurofibromatosis Neuroma, Familial Acoustic Bilateral Acoustic Neurinomas Neurofibromatosis, Central, NF 2 Schwannomas, Bilateral Acoustic Neurinomas, Bilateral Acoustic Acoustic Schwannoma, Bilateral |
| AN |
do not confuse with NEUROFIBROMATOSIS 1; coord IM with precoord/neopl term (IM) if relevant |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C1136043 C0027832 C1136041 C1136042 |
| DC |
1 |
| definition |
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. |
| DX |
19920101 |
| FX |
D016515 D025581 |
| HN |
1992; NEUROFIBROMATOSIS, CENTRAL, NF2 use NEUROFIBROMATOSIS, CENTRAL, NF-2 use NEUROMA, ACOUSTIC 1989-1991; NEUROMA, ACOUSTIC, BILATERAL use NEUROMA, ACOUSTIC 1989-91 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
1992; NEUROFIBROMATOSIS, CENTRAL, NF2 see NEUROFIBROMATOSIS, CENTRAL, NF-2 see NEUROMA, ACOUSTIC 1989-1991; NEUROMA, ACOUSTIC, BILATERAL see NEUROMA, ACOUSTIC 1989-1991 |
| MDA |
19910621 |
| MMR |
20180629 |
| MN |
C10.292.225.750.500 C04.557.580.600.610.595.610.500 C10.562.600.750 C04.700.631.655 C09.647.675.500 C04.557.465.625.650.595.610.500 C10.574.500.549.700 C10.292.910.600.500 C04.557.580.600.580.590.655 C09.218.807.800.675.500 C16.320.700.633.655 C16.320.400.560.700 |
| notation |
D016518 |
| prefLabel |
Neurofibromatosis 2 |
| TERMUI |
T369987 T844309 T049405 T369990 T369989 T844308 T049407 T049410 T049409 T369988 T751068 T049408 T372689 T369984 T049406 T751067 T369986 T369991 T369985 |
| TH |
NLM (1992) NLM (2000) NLM (2010) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T191 |
| subClassOf |