loading...| Preferred Name | Von Hippel-Lindau disease | |
| Synonyms |
Lindau disease VHL Von Hippel-Lindau syndrome Familial cerebelloretinal angiomatosis |
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| Definitions |
A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_892 |
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| alternative_term |
Lindau disease VHL Von Hippel-Lindau syndrome Familial cerebelloretinal angiomatosis |
|
| definition |
A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=892 |
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| has_age_of_onset |
Adolescent Adult Childhood |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
ICD-11:5A75 ICD-10:Q85.8 MeSH:D006623 OMIM:193300 MedDRA:10047716 UMLS:C0019562 |
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| label |
Von Hippel-Lindau disease |
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| notation |
ORPHA:892 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_71281 http://www.orpha.net/ORDO/Orphanet_183503 http://www.orpha.net/ORDO/Orphanet_100091 http://www.orpha.net/ORDO/Orphanet_100094 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_319328 |
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| prefixIRI |
ORDO:Orphanet_892 |
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| prefLabel |
Von Hippel-Lindau disease |
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| present_in |
United Kingdom AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 2.13 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 3.66 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_71281 http://www.orpha.net/ORDO/Orphanet_183503 http://www.orpha.net/ORDO/Orphanet_100091 http://www.orpha.net/ORDO/Orphanet_100094 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_319328 |
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| subClassOf |