Id http://purl.bioontology.org/ontology/CSP/5000-0055
http://purl.bioontology.org/ontology/CSP/5000-0055
Preferred Name

Von 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.
Synonyms
Hippel Lindau syndrome
Type http://www.w3.org/2002/07/owl#Class
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