tuberous sclerosis complex
E939680
Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
All labels observed (3)
| Label | Occurrences |
|---|---|
| tuberous sclerosis complex canonical | 2 |
| Bourneville tuberous sclerosis | 1 |
| TSC | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T11698344 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: tuberous sclerosis complex Context triple: [Lennox-Gastaut syndrome, hasEtiology, tuberous sclerosis complex]
-
A.
TSC
TSC is the commonly used abbreviation for Trinidad State College, a public community college in Colorado offering a range of academic and vocational programs.
-
B.
TSC
TSC is the ICAO airline designator for Air Transat, a Canadian leisure airline based in Montreal.
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C.
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is a severe, childhood-onset epileptic encephalopathy characterized by multiple types of drug-resistant seizures, cognitive impairment, and abnormal EEG findings.
-
D.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
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E.
Noonan
Noonan is the surname of Peggy Noonan, a prominent American political speechwriter, author, and columnist.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: tuberous sclerosis complex Target entity description: Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
-
A.
TSC
TSC is the commonly used abbreviation for Trinidad State College, a public community college in Colorado offering a range of academic and vocational programs.
-
B.
TSC
TSC is the ICAO airline designator for Air Transat, a Canadian leisure airline based in Montreal.
-
C.
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is a severe, childhood-onset epileptic encephalopathy characterized by multiple types of drug-resistant seizures, cognitive impairment, and abnormal EEG findings.
-
D.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
-
E.
Noonan
Noonan is the surname of Peggy Noonan, a prominent American political speechwriter, author, and columnist.
- F. None of above. chosen
Statements (53)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal dominant disease
ⓘ
genetic disorder ⓘ multisystem disease ⓘ neurocutaneous syndrome ⓘ |
| affectsOrgan |
brain
ⓘ
eyes ⓘ heart ⓘ kidneys ⓘ lungs ⓘ skin ⓘ |
| ageOfOnset | childhood ⓘ |
| associatedWith |
behavioral problems
ⓘ
epilepsy ⓘ infantile spasms ⓘ psychiatric disorders ⓘ |
| canOccurAs | de novo mutation ⓘ |
| causedByMutationIn |
TSC1 gene
ⓘ
TSC2 gene ⓘ |
| characterizedBy |
autism spectrum disorder features
ⓘ
benign tumors in multiple organs ⓘ cardiac rhabdomyomas ⓘ cortical tubers in the brain ⓘ developmental delay ⓘ epileptic seizures ⓘ intellectual disability ⓘ pulmonary lymphangioleiomyomatosis ⓘ renal angiomyolipomas ⓘ retinal hamartomas ⓘ skin abnormalities ⓘ subependymal giant cell astrocytoma ⓘ subependymal nodules ⓘ |
| diagnosedBy |
brain MRI
ⓘ
clinical criteria ⓘ echocardiography ⓘ genetic testing ⓘ renal imaging ⓘ |
| epidemiology |
affects both sexes
ⓘ
occurs worldwide ⓘ rare disease ⓘ |
| hasCutaneousFeature |
confetti skin lesions
ⓘ
facial angiofibromas ⓘ hypomelanotic macules ⓘ periungual fibromas ⓘ shagreen patches ⓘ |
| hasSynonym |
Bourneville disease
ⓘ
Bourneville tuberous sclerosis ⓘ
linked to:
tuberous sclerosis complex
TSC ⓘ
linked to:
tuberous sclerosis complex
|
| inheritancePattern | autosomal dominant ⓘ |
| molecularPathway | mTOR signaling pathway ⓘ |
| requires | lifelong surveillance ⓘ |
| treatedWith |
antiepileptic drugs
ⓘ
mTOR inhibitors ⓘ surgical resection of tumors ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: tuberous sclerosis complex Description of subject: Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
Referenced by (4)
Full triples — surface form annotated when it differs from this entity's canonical label.
linked to: tuberous sclerosis complex
linked to: tuberous sclerosis complex