Medical Subject Headings

Last uploaded: July 6, 2018
Preferred Name

von Hippel-Lindau Disease

Synonyms

von Hippel-Lindau Syndrome

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

von Hippel-Lindau Syndrome

Angiomatoses, Familial Cerebello-Retinal

Familial Cerebello-Retinal Angiomatoses

Angiomatoses, Familial Cerebelloretinal

Angiomatosis Retinae

Syndromes, VHL

Angiomatosis, Familial Cerebello-Retinal

Syndrome, von Hippel-Lindau

Cerebello-Retinal Angiomatoses, Familial

Cerebelloretinal Angiomatosis, Familial

Lindau's Disease

Cerebelloretinal Angiomatoses, Familial

von Hippel Lindau Disease

von Hippel Lindau Syndrome

Familial Cerebelloretinal Angiomatosis

Familial Cerebelloretinal Angiomatoses

Cerebello-Retinal Angiomatosis, Familial

VHL Syndromes

Hippel Lindau Disease

Lindau Disease

Lindau's Diseases

Hippel-Lindau Disease

VHL Syndrome

Syndrome, VHL

Familial Cerebello-Retinal Angiomatosis

Retinae, Angiomatosis

Lindaus Disease

Familial Cerebello Retinal Angiomatosis

Angiomatosis, Familial Cerebelloretinal

AQL

BL CF CI CL CN 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/Q000401

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/MESH/Q000151

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D007715

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D017253

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D013341

http://purl.bioontology.org/ontology/MESH/D016917

http://purl.bioontology.org/ontology/MESH/D054000

Machine permutation

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

MDA

19990101

MMR

20130708

MN

C10.562.925

C14.907.077.925

notation

D006623

prefLabel

von Hippel-Lindau Disease

TERMUI

T372183

T372185

T372181

T019933

T019932

T844128

T372182

T842671

T372184

TH

NLM (1975)

NLM (1996)

NLM (2000)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

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

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

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http://purl.bioontology.org/ontology/MDRFRE/10047716 MDRFRE CUI
http://www.gamuts.net/entity#von_Hippel_Lindau_disease Radiology Gamuts Ontology LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019562 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019562 MedlinePlus Health Topics LOOM
http://purl.obolibrary.org/obo/DOID_14175 BioAssay Ontology LOOM
http://purl.obolibrary.org/obo/DOID_14175 Cell Line Ontology LOOM
http://purl.obolibrary.org/obo/DOID_14175 Human Disease Ontology LOOM
http://purl.obolibrary.org/obo/DOID_14175 Neuroscience Information Framework (NIF) Standard Ontology LOOM
http://identifiers.org/omim/193300 Gene Expression Ontology LOOM
http://identifiers.org/omim/193300 Regulation of Gene Expression Ontolology LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.925 Robert Hoehndorf Version of MeSH LOOM
http://www.orpha.net/ORDO/Orphanet_892 Cell Culture Ontology LOOM
http://www.orpha.net/ORDO/Orphanet_892 Orphanet Rare Disease Ontology LOOM
http://www.orpha.net/ORDO/Orphanet_892 Experimental Factor Ontology LOOM
http://www.orpha.net/ORDO/Orphanet_892 Holistic Ontology of Rare Diseases LOOM
http://www.orpha.net/ORDO/Orphanet_892 Experimental Factor Ontology LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000001541 National Drug File - Reference Terminology CUI
http://purl.bioontology.org/ontology/MSHFRE/D006623 Thesaurus Biomedical Francais/Anglais [French translation of MeSH] CUI
http://purl.bioontology.org/ontology/RCD/PK62. Read Codes, Clinical Terms Version 3 (CTV3) CUI
http://purl.bioontology.org/ontology/MEDDRA/10047716 Medical Dictionary for Regulatory Activities CUI
http://purl.bioontology.org/ontology/MEDDRA/10047716 Medical Dictionary for Regulatory Activities LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01024 Systematized Nomenclature of Medicine, International Version CUI
http://purl.bioontology.org/ontology/OMIM/608537 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042846 Physician Data Query CUI
http://purl.bioontology.org/ontology/OMIM/193300 Online Mendelian Inheritance in Man CUI
http://purl.obolibrary.org/obo/OMIM_193300 Regulation of Transcription Ontology LOOM
http://purl.bioontology.org/ontology/SCTSPA/46659004 SNOMED Terminos Clinicos CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46659004 SNOMED CT CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006623 Robert Hoehndorf Version of MeSH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_99 Disease core ontology applied to Rare Diseases LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 Monarch Disease Ontology LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.077.925 Robert Hoehndorf Version of MeSH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14175 Natural Products Ontology LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/CSP/5000-0055 Computer Retrieval of Information on Scientific Projects Thesaurus CUI