Cell Culture Ontology - von Hippel-Lindau disease - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Id	http://purl.obolibrary.org/obo/MONDO_0008667 http://purl.obolibrary.org/obo/MONDO_0008667
Preferred Name	von Hippel-Lindau disease
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.
Synonyms	Von Hippel Lindau disease VHL syndrome Von Hippel-Lindau syndrome, Modifiers of von Hippel-Lindau syndrome Hippel Lindau syndrome Lindau disease von Hippel-Lindau syndrome, modifier of von Hippel-Lindau disease Von Hippel-Lindau syndrome (VHL) familial cerebelloretinal angiomatosis Von Hippel-Lindau syndrome cerebroretinal angiomatosis VHL See more See less
Type	http://www.w3.org/2002/07/owl#Class

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.
preferred label	von Hippel-Lindau disease
label	von Hippel-Lindau disease
prefLabel	von Hippel-Lindau disease
database_cross_reference	NANDO:2200408 MESH:D006623 Orphanet:892 MEDGEN:42458 OMIM:193300 NANDO:2200829 MedDRA:10047716 icd11.foundation:1985408165 UMLS:C0019562 SCTID:46659004 DOID:14175 GARD:7855 ICD9:759.6 NCIT:C3105 NORD:1830 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
notation	MONDO:0008667
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder See more See less
has_related_synonym	Von Hippel Lindau disease VHL syndrome Von Hippel-Lindau syndrome, Modifiers of
id	MONDO:0008667
skos_exactMatch	http://purl.obolibrary.org/obo/NCIT_C3105 http://purl.obolibrary.org/obo/DOID_14175 http://identifiers.org/snomedct/46659004 https://omim.org/entry/193300 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1985408165 http://linkedlifedata.com/resource/umls/id/C0019562 http://purl.obolibrary.org/obo/Orphanet_892 http://identifiers.org/mesh/D006623 http://identifiers.org/medgen/42458 See more See less
see also	https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease
subClassOf	http://purl.obolibrary.org/obo/MONDO_0042983
skos_closeMatch	http://identifiers.org/meddra/10047716
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	von Hippel-Lindau syndrome Hippel Lindau syndrome Lindau disease von Hippel-Lindau syndrome, modifier of von Hippel-Lindau disease Von Hippel-Lindau syndrome (VHL) familial cerebelloretinal angiomatosis Von Hippel-Lindau syndrome cerebroretinal angiomatosis VHL See more See less
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0008667
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 http://purl.obolibrary.org/obo/MONDO_0015079 http://purl.obolibrary.org/obo/MONDO_0021147 See more See less

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