loading...| Preferred Name | von Hippel-Lindau Disease [Disease/Finding] | |
| Synonyms |
Familial Cerebello-Retinal Angiomatosis Cerebelloretinal Angiomatosis, Familial von Hippel-Lindau Syndrome Lindau's Disease von Hippel-Lindau Disease Angiomatosis Retinae Lindau Disease VHL Syndrome Hippel-Lindau Disease |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001541 |
|
| altLabel |
Familial Cerebello-Retinal Angiomatosis Cerebelloretinal Angiomatosis, Familial von Hippel-Lindau Syndrome Lindau's Disease von Hippel-Lindau Disease Angiomatosis Retinae Lindau Disease VHL Syndrome Hippel-Lindau Disease |
|
| cui |
C0019562 |
|
| MESH DEFINITION |
An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. |
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| MESH DUI |
D006623 |
|
| MeSH name |
von Hippel-Lindau Disease |
|
| MESH UI |
M0010373 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001541 |
|
| NUI |
N0000001541 |
|
| prefLabel |
von Hippel-Lindau Disease [Disease/Finding] |
|
| SNOMED CID |
46659004 |
|
| tui |
T047 |
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| subClassOf |