Preferred Name

Von Hippel Lindau syndrome

Synonyms

Hippel Lindau syndrome

Definitions

autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction.

ID

http://purl.bioontology.org/ontology/CSP/5000-0055

altLabel

Hippel Lindau syndrome

cui

C0019562

definition

autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction.

DID

5000-0055

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/2006-2736

http://purl.bioontology.org/ontology/CSP/2018-3273

http://purl.bioontology.org/ontology/CSP/1254-7727

Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7792

notation

5000-0055

prefLabel

Von Hippel Lindau syndrome

tui

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/2006-2736

http://purl.bioontology.org/ontology/CSP/2018-3273

http://purl.bioontology.org/ontology/CSP/1254-7727

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10047716 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/608537 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001541 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D006623 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10047716 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/46659004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PK62. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10047716 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.83 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-01024 SNMI CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042846 PDQ CUI
http://purl.bioontology.org/ontology/OMIM/193300 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D006623 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019562 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46659004 SNOMEDCT CUI
http://purl.obolibrary.org/obo/NCIT_C3105 BERO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15281 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3105 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/PK62.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/PK62. RCD LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.83 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01024 SNMI LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042846 PDQ LOOM
http://purl.bioontology.org/ontology/OMIM/193300 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/46659004 SNOMEDCT LOOM