Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Von Hippel-Lindau disease

Synonyms

Lindau disease

Definitions

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.

ID

http://www.orpha.net/ORDO/Orphanet_892

alternative_term

Lindau disease

VHL

Von Hippel-Lindau syndrome

Familial cerebelloretinal angiomatosis

definition

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Autosomal dominant

hasDbXref

ICD-11:5A75

ICD-10:Q85.8

MeSH:D006623

OMIM:193300

MedDRA:10047716

UMLS:C0019562

label

Von Hippel-Lindau disease

notation

ORPHA:892

part_of

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_98638

http://www.orpha.net/ORDO/Orphanet_71281

http://www.orpha.net/ORDO/Orphanet_183503

http://www.orpha.net/ORDO/Orphanet_100091

http://www.orpha.net/ORDO/Orphanet_100094

http://www.orpha.net/ORDO/Orphanet_93587

http://www.orpha.net/ORDO/Orphanet_319328

http://www.orpha.net/ORDO/Orphanet_156162

http://www.orpha.net/ORDO/Orphanet_252190

prefixIRI

ORDO:Orphanet_892

prefLabel

Von Hippel-Lindau disease

present_in

United Kingdom AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000

Denmark AND has_point_prevalence_average_value : 2.13 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_birth_prevalence_average_value : 3.66 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_98638

http://www.orpha.net/ORDO/Orphanet_71281

http://www.orpha.net/ORDO/Orphanet_183503

http://www.orpha.net/ORDO/Orphanet_100091

http://www.orpha.net/ORDO/Orphanet_100094

http://www.orpha.net/ORDO/Orphanet_93587

http://www.orpha.net/ORDO/Orphanet_319328

http://www.orpha.net/ORDO/Orphanet_156162

http://www.orpha.net/ORDO/Orphanet_252190

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_892 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_14175 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14175 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14175 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14175 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14175 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14175 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14175 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006623 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14175 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.077.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_193300 CCO LOOM
http://id.nlm.nih.gov/mesh/D006623 MDM LOOM
http://www.gamuts.net/entity#von_Hippel_Lindau_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D006623 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007782 OMIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10047716 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_99 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036297 PMAPP-PMO LOOM
http://identifiers.org/omim/193300 REXO LOOM
http://identifiers.org/omim/193300 GEXO LOOM
http://identifiers.org/omim/193300 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019562 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 KTAO LOOM
http://www.gamuts.net/entity#von_Hippel_Lindau_disease GAMUTS REST