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von Hippel-Lindau disease

^ http://purl.obolibrary.org/obo/MONDO_0008667

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. [ Orphanet:892 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • UMLS:C0019562 (Orphanet:892/e)
  • MESH:D006623 (Orphanet:892/e)
  • Orphanet:892 (OMIM:193300)
  • NCIT:C3105 (MONDO:equivalentTo)
  • GARD:0007855 (MONDO:equivalentTo)
  • MedDRA:10047716 (Orphanet:892/e)
  • DOID:14175 (MONDO:equivalentTo)
  • OMIM:193300 (Orphanet:892/e)
  • SCTID:46659004 (MONDO:equivalentTo)
  • ICD9:759.6 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
VHL [ OMIM:193300 MONDO:Lexical Orphanet:892 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/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.

exactMatch

http://identifiers.org/mesh/D006623, http://identifiers.org/snomedct/46659004, http://purl.obolibrary.org/obo/DOID_14175, http://purl.obolibrary.org/obo/Orphanet_892, http://purl.obolibrary.org/obo/NCIT_C3105, https://omim.org/entry/193300, http://linkedlifedata.com/resource/umls/id/C0019562

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015953, http://purl.obolibrary.org/obo/MONDO_0005328, http://purl.obolibrary.org/obo/MONDO_0016756, http://purl.obolibrary.org/obo/MONDO_0020676, http://purl.obolibrary.org/obo/MONDO_0019741, http://purl.obolibrary.org/obo/MONDO_0021147, http://purl.obolibrary.org/obo/MONDO_0019755, http://purl.obolibrary.org/obo/MONDO_0015079, http://purl.obolibrary.org/obo/MONDO_0017891

has exact synonym

von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome (VHL), Lindau disease, von Hippel-Lindau disease, Von Hippel-Lindau syndrome, cerebroretinal angiomatosis, VHL, von Hippel-Lindau syndrome, modifier of, familial cerebelloretinal angiomatosis, Hippel Lindau syndrome

has related synonym

Von Hippel-Lindau syndrome, Modifiers of, VHL syndrome, Von Hippel Lindau disease

id

MONDO:0008667

seeAlso

https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease