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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/2012-7338
http://purl.bioontology.org/ontology/CSP/2012-7338
|
|---|---|
| Preferred Name | neurofibromatosis |
| Definitions |
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.
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| Synonyms |
Recklinghausen's disease
neurofibromatoses
multiple neuroma
Recklinghausen's neurofibromatosis
von Recklinghausen's disease
multiple fibromatosis
neuromatosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Recklinghausen's disease
neurofibromatoses
multiple neuroma
Recklinghausen's neurofibromatosis
von Recklinghausen's disease
multiple fibromatosis
neuromatosis
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|
| prefLabel | neurofibromatosis
|
| Inverse of RO | |
| type | |
| tui | T191
|
| notation | 2012-7338
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| Semantic type UMLS property | |
| DID | 2012-7338
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| cui |
C0027831
C0162678
C0598943
C0598944
C0598945
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| Inverse of RB | |
| subClassOf |
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