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von Hippel-Lindau Disease

Go to external page http://purl.bioontology.org/ontology/MESH/D006623

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.

Term info

Label

von Hippel-Lindau Disease

Synonyms
  • Angiomatoses, Familial Cerebello-Retinal
  • Angiomatoses, Familial Cerebelloretinal
  • Angiomatosis Retinae
  • Angiomatosis, Familial Cerebello-Retinal
  • Angiomatosis, Familial Cerebelloretinal
  • Cerebello-Retinal Angiomatoses, Familial
  • Cerebello-Retinal Angiomatosis, Familial
  • Cerebelloretinal Angiomatoses, Familial
  • Cerebelloretinal Angiomatosis, Familial
  • Familial Cerebello Retinal Angiomatosis
  • Familial Cerebello-Retinal Angiomatoses
  • Familial Cerebello-Retinal Angiomatosis
  • Familial Cerebelloretinal Angiomatoses
  • Familial Cerebelloretinal Angiomatosis
  • Hippel Lindau Disease
  • Hippel-Lindau Disease
  • Hippel-Lindau-Syndrom (DE)
  • Lindau Disease
  • Lindau's Disease
  • Lindau's Diseases
  • Lindau-Krankheit (DE)
  • Lindaus Disease
  • VHL Syndrome
  • VHL Syndromes
  • Von-Hippel-Lindau-Syndrom (DE)
  • Zerebelloretinale Angiomatose, familiäre (DE)
  • von Hippel Lindau Disease
  • von Hippel Lindau Syndrome
  • von Hippel-Lindau Syndrome
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

DC

1

DX

19910101

HN

2008 (1975)

MDA

19990101

MMR

20171214

MN

C16.131.077.245.750, C10.562.925, C16.320.184.750, C14.907.077.925

PM

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

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D007690, http://purl.bioontology.org/ontology/MESH/D016767, http://purl.bioontology.org/ontology/MESH/D056769, http://purl.bioontology.org/ontology/MESH/D014402, http://purl.bioontology.org/ontology/MESH/D013341, http://purl.bioontology.org/ontology/MESH/D001260, http://purl.bioontology.org/ontology/MESH/D002925, http://purl.bioontology.org/ontology/MESH/D054000, http://purl.bioontology.org/ontology/MESH/D017253, http://purl.bioontology.org/ontology/MESH/D016917, http://purl.bioontology.org/ontology/MESH/D007715, http://purl.bioontology.org/ontology/MESH/D020788

TERMUI

T372182, T372181, T842671, T372184, T372183, T019933, T372185, T019932, T844128

TH

GHR (2014), ORD (2010), OMIM (2013), NLM (2000), NLM (1975), NLM (1996)

cui

C0019562

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations