ORPHA:2382
E939683
ORPHA:2382 refers to Lennox-Gastaut syndrome, a rare, severe childhood-onset epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and a distinctive EEG pattern.
All labels observed (1)
| Label | Occurrences |
|---|---|
| ORPHA:2382 canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T11698359 — 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: ORPHA:2382 Context triple: [Lennox-Gastaut syndrome, hasOrphanetID, ORPHA:2382]
-
A.
ORDR
ORDR is the Office of Rare Diseases Research, a U.S. government program that coordinates and supports research, information, and collaboration related to rare diseases.
-
B.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a U.S. government resource that provides reliable, up-to-date information and support to patients, families, and healthcare professionals about genetic and rare conditions.
-
C.
Joubbé
Joubbé is a locality in Lebanon that forms part of the pastoral territory served by the Maronite Catholic Eparchy of Joubbé, Sarba and Jounieh.
-
D.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
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E.
Rare Diseases Clinical Research Network
The Rare Diseases Clinical Research Network is a collaborative NIH-funded consortium that conducts clinical studies, develops diagnostics and treatments, and advances knowledge for patients affected by rare diseases.
- 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: ORPHA:2382 Target entity description: ORPHA:2382 refers to Lennox-Gastaut syndrome, a rare, severe childhood-onset epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and a distinctive EEG pattern.
-
A.
ORDR
ORDR is the Office of Rare Diseases Research, a U.S. government program that coordinates and supports research, information, and collaboration related to rare diseases.
-
B.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a U.S. government resource that provides reliable, up-to-date information and support to patients, families, and healthcare professionals about genetic and rare conditions.
-
C.
Joubbé
Joubbé is a locality in Lebanon that forms part of the pastoral territory served by the Maronite Catholic Eparchy of Joubbé, Sarba and Jounieh.
-
D.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
-
E.
Rare Diseases Clinical Research Network
The Rare Diseases Clinical Research Network is a collaborative NIH-funded consortium that conducts clinical studies, develops diagnostics and treatments, and advances knowledge for patients affected by rare diseases.
- F. None of above. chosen
Statements (50)
| Predicate | Object |
|---|---|
| instanceOf |
epileptic encephalopathy
ⓘ
rare disease ⓘ syndrome ⓘ |
| hasAbbreviation | LGS NERFINISHED ⓘ |
| hasAgeOfOnset | between 1 and 8 years ⓘ |
| hasClinicalFeature |
atonic seizures
ⓘ
atypical absence seizures ⓘ behavioral problems ⓘ cognitive impairment ⓘ developmental regression ⓘ drop attacks ⓘ drug-resistant epilepsy ⓘ generalized tonic-clonic seizures ⓘ intellectual disability ⓘ multiple seizure types ⓘ myoclonic seizures ⓘ tonic seizures ⓘ |
| hasComplication |
behavioral disorders
ⓘ
injuries from falls ⓘ learning difficulties ⓘ status epilepticus ⓘ |
| hasCourse |
chronic
ⓘ
progressive cognitive decline ⓘ |
| hasEEGPattern |
paroxysmal fast activity during sleep
ⓘ
slow spike-and-wave discharges ⓘ |
| hasInheritance | usually sporadic ⓘ |
| hasName | Lennox-Gastaut syndrome NERFINISHED ⓘ |
| hasOnset |
childhood
ⓘ
early childhood ⓘ |
| hasPeakAgeOfOnset | 3 to 5 years ⓘ |
| hasPrevalence |
less than 5 per 10000
ⓘ
rare ⓘ |
| hasRiskFactor |
genetic epileptic encephalopathy
ⓘ
history of infantile spasms ⓘ perinatal brain injury ⓘ structural brain abnormalities ⓘ |
| hasTreatment |
cannabidiol
ⓘ
clobazam ⓘ corpus callosotomy ⓘ felbamate NERFINISHED ⓘ ketogenic diet ⓘ lamotrigine NERFINISHED ⓘ rufinamide ⓘ topiramate ⓘ vagus nerve stimulation ⓘ valproate ⓘ |
| isClassifiedAs |
developmental and epileptic encephalopathy
ⓘ
generalized epilepsy ⓘ |
| mappedTo |
MedDRA:10024370
ⓘ
OMIM:606369 ⓘ |
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: ORPHA:2382 Description of subject: ORPHA:2382 refers to Lennox-Gastaut syndrome, a rare, severe childhood-onset epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and a distinctive EEG pattern.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.