Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

VON HIPPEL-LINDAU SYNDROME
Synonyms

VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
ID

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

VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF

VHL

VHLS
cui

C0019562

C2674004
Gene Locus

3p26-p25
Gene Symbol

VHL
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

193300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

VON HIPPEL-LINDAU SYNDROME
Scope Statement

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

VHL type 2C - pheochromocytoma only [MISCELLANEOUS]

VHL type 1 - renal carcinoma and hemangioblastoma [MISCELLANEOUS]

VHL type 2A - hemangioblastoma and pheochromocytoma [MISCELLANEOUS]

Incidence of 1 in 39,000 [MISCELLANEOUS]

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

Highly variable phenotype, even within families [MISCELLANEOUS]
tui

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10047716 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/5000-0055 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001541 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D006623 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10047716 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/46659004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PK62. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10047716 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.83 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-01024 SNMI CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042846 PDQ CUI
http://purl.bioontology.org/ontology/MSHFRE/D006623 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019562 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46659004 SNOMEDCT CUI
http://purl.obolibrary.org/obo/NCIT_C3105 BERO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15281 DERMLEX LOOM
http://purl.bioontology.org/ontology/CSP/5000-0055 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3105 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/PK62.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/PK62. RCD LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.83 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01024 SNMI LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042846 PDQ LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/46659004 SNOMEDCT LOOM