Preferred Name

von Hippel-Lindau disease

Synonyms

VHL

von Hippel-Lindau disease

Von Hippel-Lindau syndrome

Hippel Lindau syndrome

Lindau disease

familial cerebelloretinal angiomatosis

von Hippel-Lindau syndrome, modifier of

von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome (VHL)

cerebroretinal angiomatosis

Von Hippel-Lindau syndrome, Modifiers of

VHL syndrome

Von Hippel 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.

ID

http://purl.obolibrary.org/obo/MONDO_0008667

has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136

has_exact_synonym

VHL

von Hippel-Lindau disease

Von Hippel-Lindau syndrome

Hippel Lindau syndrome

Lindau disease

familial cerebelloretinal angiomatosis

von Hippel-Lindau syndrome, modifier of

von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome (VHL)

cerebroretinal angiomatosis

has_related_synonym

Von Hippel-Lindau syndrome, Modifiers of

VHL syndrome

Von Hippel Lindau disease

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

label

von Hippel-Lindau disease

prefixIRI

MONDO:0008667

prefLabel

von Hippel-Lindau disease

seeAlso

https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease

textual 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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0042983

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http://purl.obolibrary.org/obo/MONDO_0008667 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008667 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008667 KTAO SAME_URI
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http://purl.obolibrary.org/obo/DOID_14175 MIDO LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006623 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14175 NATPRO LOOM
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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://www.orpha.net/ORDO/Orphanet_892 ORDO LOOM
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http://identifiers.org/omim/193300 REXO LOOM
http://identifiers.org/omim/193300 GEXO LOOM
http://identifiers.org/omim/193300 RETO LOOM
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http://purl.obolibrary.org/obo/MONDO_0008667 KTAO LOOM
http://nanbyodata.jp/ontology/NANDO_2200829 NANDO LOOM