loading...| Preferred Name | von Hippel-Lindau Disease | |
| Synonyms |
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 |
|
| 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 |
|
| 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 |