Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

von Hippel-Lindau Disease

Synonyms

Angiomatoses, Familial Cerebello-Retinal

Definitions

An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

ID

http://purl.bioontology.org/ontology/MESH/D006623

altLabel

Angiomatoses, Familial Cerebello-Retinal

von Hippel Lindau Disease

Lindaus Disease

Familial Cerebello-Retinal Angiomatosis

Cerebelloretinal Angiomatosis, Familial

Angiomatoses, Familial Cerebelloretinal

Familial Cerebelloretinal Angiomatosis

von Hippel-Lindau Syndrome

Lindau's Disease

Hippel Lindau Disease

Familial Cerebelloretinal Angiomatoses

VHL Syndromes

Angiomatosis Retinae

Cerebello-Retinal Angiomatoses, Familial

Lindau Disease

VHL Syndrome

Cerebello-Retinal Angiomatosis, Familial

Familial Cerebello-Retinal Angiomatoses

von Hippel Lindau Syndrome

Cerebelloretinal Angiomatoses, Familial

Hippel-Lindau Disease

Lindau's Diseases

Familial Cerebello Retinal Angiomatosis

Angiomatosis, Familial Cerebelloretinal

Angiomatosis, Familial Cerebello-Retinal

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0019562

DC

1

definition

An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

DX

19910101

HN

2008 (1975)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

2008; see HIPPEL-LINDAU DISEASE 1991-2007; see ANGIOMATOSIS 1975-1990

MDA

19990101

MMR

20171214

MN

C16.131.077.245.750

C14.907.077.925

C10.562.925

C16.320.184.750

notation

D006623

prefLabel

von Hippel-Lindau Disease

TERMUI

T842671

T372184

T844128

T372185

T019932

T372181

T372182

T372183

T019933

TH

NLM (1996)

OMIM (2013)

NLM (2000)

NLM (1975)

GHR (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D000798

http://purl.bioontology.org/ontology/MESH/D020752

http://purl.bioontology.org/ontology/MESH/D000072661

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http://purl.bioontology.org/ontology/MDRGER/10047716 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/5000-0055 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/608537 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001541 NDFRT 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/OMIM/193300 OMIM 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/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://www.orpha.net/ORDO/Orphanet_892 ORDO 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