VON HIPPEL-LINDAU SYNDROME

VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF

http://purl.bioontology.org/ontology/OMIM/193300

VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF

VHLS

VHL

C0019562

C2674004

3p26-p25

VHL

http://purl.bioontology.org/ontology/OMIM/MTHU015029

http://purl.bioontology.org/ontology/OMIM/MTHU015019

http://purl.bioontology.org/ontology/OMIM/MTHU015017

http://purl.bioontology.org/ontology/OMIM/MTHU015024

http://purl.bioontology.org/ontology/OMIM/MTHU015022

http://purl.bioontology.org/ontology/OMIM/MTHU015016

http://purl.bioontology.org/ontology/OMIM/MTHU015014

http://purl.bioontology.org/ontology/OMIM/MTHU015032

http://purl.bioontology.org/ontology/OMIM/MTHU015026

http://purl.bioontology.org/ontology/OMIM/MTHU015020

http://purl.bioontology.org/ontology/OMIM/MTHU023771

http://purl.bioontology.org/ontology/OMIM/MTHU015030

http://purl.bioontology.org/ontology/OMIM/MTHU027547

http://purl.bioontology.org/ontology/OMIM/MTHU001035

http://purl.bioontology.org/ontology/OMIM/MTHU015015

http://purl.bioontology.org/ontology/OMIM/MTHU015018

http://purl.bioontology.org/ontology/OMIM/MTHU006480

http://purl.bioontology.org/ontology/OMIM/MTHU015023

http://purl.bioontology.org/ontology/OMIM/MTHU015027

http://purl.bioontology.org/ontology/OMIM/MTHU015025

http://purl.bioontology.org/ontology/OMIM/MTHU027546

http://purl.bioontology.org/ontology/OMIM/MTHU023772

http://purl.bioontology.org/ontology/OMIM/MTHU015033

http://purl.bioontology.org/ontology/OMIM/MTHU015031

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU003968

Phenotype description, molecular basis known.

193300

3

pound

VON HIPPEL-LINDAU SYNDROME

Incidence of 1 in 39,000 [MISCELLANEOUS]

Caused by mutation in the von Hippel-Lindau gene (VHL, 608537.0001) [MOLECULAR BASIS]

VHL type 1 - renal carcinoma and hemangioblastoma [MISCELLANEOUS]

VHL type 2A - hemangioblastoma and pheochromocytoma [MISCELLANEOUS]

VHL type 2C - pheochromocytoma only [MISCELLANEOUS]

VHL type 2B - renal carcinoma and pheochromocytoma [MISCELLANEOUS]

Highly variable phenotype, even within families [MISCELLANEOUS]

T033

T047