Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Von Hippel-Lindau disease
Synonyms

Lindau disease

Hippel-Lindau disease

VHL

Familial cerebello-retinal angiomatosis

Von Hippel-Lindau syndrome

Familial cerebelloretinal angiomatosis
ID

http://www.limics.org/hrdo/rdfns#pat_id_99
ageOfDeath

Elderly
ageOfOnset

Adulthood
altLabel

Lindau disease

Hippel-Lindau disease

VHL

Familial cerebello-retinal angiomatosis

Von Hippel-Lindau syndrome

Familial cerebelloretinal angiomatosis
id_MedDRA

10047716
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22hippel-lindau+disease%22%5BTIAB%5D+OR+Von+Hippel-Lindau%5BTW%5D%29+NOT+Medline%5BSB%5D%29+OR+%22hippel-lindau+disease%22%5BMeSH+Terms%5D
id_MeSH

D006623
id_MIM

193300
id_OMS

Q85.8
id_Orpha

892
id_SNOMEDCT

46659004
id_UMLS

C0019562
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_99
prefLabel

Von Hippel-Lindau disease
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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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 DOID 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 DDSS 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://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.phoc.org.cn/pmo/class/PMO_00036297 PMAPP-PMO LOOM
http://identifiers.org/omim/193300 REXO 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://nanbyodata.jp/ontology/NANDO_2200408 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008667 KTAO LOOM
rgo:02095 GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_2200829 NANDO LOOM