Orphanet: Von Hippel-Lindau disease
GPTKB entity
Statements (84)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:containsGene |
gptkb:VHL
|
| gptkbp:hasClinicalFeature |
gptkb:broad_ligament_cystadenoma
gptkb:epididymal_cystadenoma gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:pheochromocytoma fever pancreatic neuroendocrine tumor abdominal pain headache hypertension weight loss hematuria hearing loss visual impairment night sweats paraganglioma ataxia sudden death sudden hearing loss renal cell carcinoma tinnitus vertigo polycythemia retinal detachment paroxysmal hypertension endolymphatic sac tumor pancreatic cysts flank pain sudden headache sudden fever cerebellar hemangioblastoma spinal hemangioblastoma sudden vertigo renal cysts palpable mass visual loss auditory impairment cerebellar symptoms pancreatic serous cystadenoma papillary cystadenoma of the epididymis secondary erythrocytosis spinal cord symptoms sudden abdominal pain sudden ataxia sudden flank pain sudden hematuria sudden night sweats sudden palpable mass sudden paroxysmal hypertension sudden polycythemia sudden secondary erythrocytosis sudden sudden abdominal pain sudden sudden ataxia sudden sudden death sudden sudden fever sudden sudden flank pain sudden sudden headache sudden sudden hearing loss sudden sudden hematuria sudden sudden night sweats sudden sudden palpable mass sudden sudden paroxysmal hypertension sudden sudden polycythemia sudden sudden secondary erythrocytosis sudden sudden tinnitus sudden sudden vertigo sudden sudden visual loss sudden sudden weight loss sudden tinnitus sudden visual loss sudden weight loss |
| gptkbp:hasOrphanetID |
ORPHA:892
|
| https://www.w3.org/2000/01/rdf-schema#label |
Orphanet: Von Hippel-Lindau disease
|
| gptkbp:ICD-10_code |
Q85.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
193300
|
| gptkbp:prevalence |
1-9 / 100,000
|
| gptkbp:synonym |
gptkb:VHL_disease
gptkb:VHL_syndrome gptkb:Von_Hippel-Lindau_syndrome |
| gptkbp:bfsParent |
gptkb:von_Hippel-Lindau_disease
|
| gptkbp:bfsLayer |
7
|