Preferred Name |
Neurofibromatosis |
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Synonyms |
Neurofibromatosis Syndrome Multiple Neurofibromas |
|
Definitions |
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described (MeSH). |
|
ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12605 |
|
createdDate |
2007-10-05 |
|
definingCitation |
Adams et al., Principles of Neurology, 6th ed, p1016 |
|
definition |
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described (MeSH). |
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hasBirnlexCurator | ||
hasCurationStatus | ||
hasDefinitionSource | ||
hasExternalSource | ||
label |
Neurofibromatosis |
|
MeshUid |
D017253 |
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modifiedDate |
2007-10-05 |
|
preferred label |
Neurofibromatosis |
|
synonym |
Neurofibromatosis Syndrome Multiple Neurofibromas |
|
usageNote |
May be benign or malignant. |
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subClassOf |
http://purl.obolibrary.org/obo/DOID_0080690 http://purl.obolibrary.org/obo/DOID_962 |