Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Tuberous Sclerosis

Synonyms

Disease, Bourneville-Pringle's

Definitions

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

ID

http://purl.bioontology.org/ontology/MESH/D014402

altLabel

Disease, Bourneville-Pringle's

Bourneville Syndrome

Sclerosis, Tuberous

Epiloia

Tuberous Sclerosis Complex

Phacomatosis, Bourneville

Bourneville Phakomatosis

Bourneville's Disease

Tuberose Sclerosis

Phakomatosis, Bourneville

Bourneville-Pringle Disease

Sclerosis Tuberosa

Bourneville Pringle's Disease

Syndrome, Bourneville's

Sclerosis, Tuberose

Adenoma Sebaceum

Bourneville-Pringles Disease

Bourneville Phacomatosis

Bourneville Pringle Disease

Disease, Bourneville-Pringle

Cerebral Scleroses

Bourneville's Syndrome

Sclerosis, Cerebral

Bourneville-Pringle's Disease

Syndrome, Bourneville

Bourneville Disease

Cerebral Sclerosis

AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0041341

C0265319

DC

1

definition

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

Facial ANGIOFIBROMA in tuberous sclerosis

DX

19660101

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000151

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D005350

Mapped from

http://purl.bioontology.org/ontology/MESH/C565346

http://purl.bioontology.org/ontology/MESH/C536328

http://purl.bioontology.org/ontology/MESH/C567682

http://purl.bioontology.org/ontology/MESH/C566021

MDA

19990101

MMR

20180629

MN

C10.500.507.400.750

C04.445.810

C10.574.500.865

C16.320.400.880

C16.131.666.507.400.750

C04.700.700

C10.562.850

C16.320.700.700

C04.651.800

notation

D014402

prefLabel

Tuberous Sclerosis

TERMUI

T842620

T787201

T372090

T769422

T769423

T787203

T842621

T787202

T042107

T042106

T372091

T768338

T373373

T042108

T811935

T842619

TH

OMIM (2013)

NLM (2000)

NLM (1966)

NLM (2012)

UNK (19XX)

GHR (2014)

NLM (2011)

ORD (2010)

tui

T191

subClassOf

http://purl.bioontology.org/ontology/MESH/D009378

http://purl.bioontology.org/ontology/MESH/D020752

http://purl.bioontology.org/ontology/MESH/D006222

http://purl.bioontology.org/ontology/MESH/D065703

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D020271

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D014402 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10080584 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D014402 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10058894 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/759.5 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10045138 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10015058 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10045138 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10058894 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10080584 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003054 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10015057 MDRFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000530751 PDQ CUI
http://purl.bioontology.org/ontology/MEDDRA/10058894 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10015058 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10015058 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/0727-2535 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/191100 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10045138 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10015057 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10080584 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/PK5.. RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-01015 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10015057 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/Q85.1 ICD10 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041341 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7199000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/7199000 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/36025004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-01016 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/36025004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X78E9 RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU018351 OMIM CUI
http://www.case.edu/EpilepsyOntology.owl#TuberousSclerosis EPSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.636 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507.875 RH-MESH LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClasse3e28e85_73de_4e8b_9f02_8c81c0c28399 WWECA LOOM
http://purl.obolibrary.org/obo/OMIT_0015238 OMIT LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.5 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.5 NLMVS LOOM
http://www.co-ode.org/ontologies/galen#TuberousSclerosis GALEN LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0041341 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.445.810 RH-MESH LOOM
http://purl.jp/bio/4/id/200906024824587062 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.850 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.880 RH-MESH LOOM
http://localhost/plosthes.2017-1#9698 PLOSTHES LOOM
http://www.case.edu/EpSO.owl#TuberousSclerosis MEPO LOOM
http://www.gamuts.net/entity#tuberous_sclerosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014402 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PK5..00 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3424 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.875 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038141 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/CSP/0727-2535 CRISP LOOM
http://purl.org/autism-ontology/1.0/autism-rules.owl#Tuberous_Sclerosis ADAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.865 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10045138 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0001734 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0001734 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001734 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0001734 KTAO LOOM
http://purl.obolibrary.org/obo/DOID_13515 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13515 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13515 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13515 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13515 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_13515 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13515 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13515 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12650 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C3424 BERO LOOM
http://purl.bioontology.org/ontology/RCD/PK5.. RCD LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.1 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.1 ICD10CM LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_496 ASDPTO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_660 HRDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q85.1 ICD10 LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17784 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.800 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.632 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13515 NATPRO LOOM