loading...| Preferred Name | von Hippel-Lindau disease | |
| Synonyms |
Von Hippel-Lindau syndrome, Modifiers of VHL syndrome Von Hippel Lindau disease 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 |
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| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008667 |
|
| database_cross_reference |
OMIM:193300 MESH:D006623 NCIT:C3105 NANDO:2200829 NANDO:2200408 DOID:14175 SCTID:46659004 GARD:7855 icd11.foundation:1985408165 UMLS:C0019562 NORD:1830 Orphanet:892 MEDGEN:42458 ICD9:759.6 MedDRA:10047716 |
|
| 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. |
|
| 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 |
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| has_related_synonym |
Von Hippel-Lindau syndrome, Modifiers of VHL syndrome Von Hippel Lindau disease |
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| IAO_0000233 | ||
| id |
MONDO:0008667 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
von Hippel-Lindau disease |
|
| notation |
MONDO:0008667 |
|
| prefLabel |
von Hippel-Lindau disease |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C3105 http://purl.obolibrary.org/obo/DOID_14175 http://identifiers.org/snomedct/46659004 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1985408165 http://linkedlifedata.com/resource/umls/id/C0019562 http://purl.obolibrary.org/obo/Orphanet_892 |
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| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0020676 http://purl.obolibrary.org/obo/MONDO_0017891 http://purl.obolibrary.org/obo/MONDO_0016756 http://purl.obolibrary.org/obo/MONDO_0015953 http://purl.obolibrary.org/obo/MONDO_0019741 http://purl.obolibrary.org/obo/MONDO_0005328 |
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| subClassOf |