Preferred Name |
Von Hippel Lindau syndrome |
|
Synonyms |
Hippel Lindau syndrome |
|
Definitions |
autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction. |
|
ID |
http://purl.bioontology.org/ontology/CSP/5000-0055 |
|
altLabel |
Hippel Lindau syndrome |
|
cui |
C0019562 |
|
definition |
autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction. |
|
DID |
5000-0055 |
|
Inverse of RB |
http://purl.bioontology.org/ontology/CSP/0944-7801 http://purl.bioontology.org/ontology/CSP/2006-2736 |
|
Inverse of RO | ||
notation |
5000-0055 |
|
prefLabel |
Von Hippel Lindau syndrome |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/CSP/0944-7801 http://purl.bioontology.org/ontology/CSP/2006-2736 |