Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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Preferred Name

von Hippel-Lindau disease
Synonyms

VHLD
Definitions

(VHLD) - VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst).
ID

http://identifiers.org/omim/193300
altLabel

VHLD
definition

(VHLD) - VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst).
id

OMIM:193300
notation

OMIM:193300
prefLabel

von Hippel-Lindau disease
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/193300 GEXO SAME_URI
http://identifiers.org/omim/193300 RETO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008667 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14175 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14175 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14175 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14175 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14175 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14175 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14175 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006623 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14175 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.077.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_193300 CCO LOOM
http://id.nlm.nih.gov/mesh/D006623 MDM LOOM
http://www.gamuts.net/entity#von_Hippel_Lindau_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D006623 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_892 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0007782 OMIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10047716 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_99 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036297 PMAPP-PMO LOOM
http://identifiers.org/omim/193300 GEXO LOOM
http://identifiers.org/omim/193300 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019562 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 KTAO LOOM