Angelman syndrome
E1030536
Angelman syndrome is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, movement and balance problems, and a typically happy, excitable demeanor.
All labels observed (1)
| Label | Occurrences |
|---|---|
| Angelman syndrome canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T13255994 — 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: Angelman syndrome Context triple: [James Padraig Farrell, hasMedicalCondition, Angelman syndrome]
-
A.
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.
-
B.
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.
-
C.
Krabbe disease
Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
-
D.
MPS II
MPS II, also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to progressive multi-organ dysfunction and developmental impairment.
-
E.
tuberous sclerosis complex
Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
- 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: Angelman syndrome Target entity description: Angelman syndrome is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, movement and balance problems, and a typically happy, excitable demeanor.
-
A.
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.
-
B.
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.
-
C.
Krabbe disease
Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
-
D.
MPS II
MPS II, also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to progressive multi-organ dysfunction and developmental impairment.
-
E.
tuberous sclerosis complex
Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
- F. None of above. chosen
Statements (71)
| Predicate | Object |
|---|---|
| instanceOf |
chromosomal disorder
ⓘ
genetic disorder ⓘ neurodevelopmental disorder ⓘ rare disease ⓘ |
| associatedChromosomeRegion | 15q11-q13 ⓘ |
| associatedGene | UBE3A ⓘ |
| behavioralFeature |
fascination with water
ⓘ
frequent mouthing of objects ⓘ hypermotoric behavior ⓘ short attention span ⓘ |
| diagnosedBy |
DNA methylation analysis of 15q11-q13
ⓘ
UBE3A sequencing ⓘ clinical evaluation ⓘ molecular genetic testing ⓘ |
| facialFeature |
deep-set eyes
ⓘ
prominent chin ⓘ wide mouth ⓘ widely spaced teeth ⓘ |
| firstDescribedInYear | 1965 ⓘ |
| hasCause |
abnormalities of chromosome 15q11-q13
ⓘ
imprinting defects at 15q11-q13 ⓘ loss of function of the maternal UBE3A gene ⓘ maternal deletion of 15q11-q13 ⓘ paternal uniparental disomy of chromosome 15 ⓘ pathogenic variants in the UBE3A gene ⓘ |
| hasComplication |
feeding difficulties
ⓘ
recurrent seizures ⓘ severe developmental disability ⓘ sleep problems ⓘ |
| hasPrognosis | normal life expectancy in many cases ⓘ |
| hasSynonym |
AS
ⓘ
Happy puppet syndrome ⓘ |
| hasTreatment |
antiepileptic drugs for seizures
ⓘ
behavioral therapy ⓘ occupational therapy ⓘ physical therapy ⓘ speech and language therapy ⓘ symptomatic management ⓘ |
| inheritancePattern |
autosomal dominant at the molecular level
ⓘ
imprinting-related ⓘ typically sporadic ⓘ |
| isListedIn |
Genetics Home Reference
ⓘ
NIH Genetic and Rare Diseases Information Center ⓘ
linked to:
Genetic and Rare Diseases Information Center
Orphanet ⓘ |
| namedAfter | Harry Angelman ⓘ |
| neurologicalFeature |
abnormal EEG patterns
ⓘ
jerky movements ⓘ tremor ⓘ |
| OMIMID | 105830 ⓘ |
| prevalence | approximately 1 in 10,000 to 1 in 20,000 people ⓘ |
| primaryFeature |
absent or minimal speech
ⓘ
ataxia ⓘ developmental delay ⓘ epilepsy ⓘ feeding difficulties in infancy ⓘ frequent smiling and laughter ⓘ hand-flapping movements ⓘ happy excitable demeanor ⓘ hyperactivity ⓘ microcephaly ⓘ movement and balance problems ⓘ scoliosis ⓘ seizures ⓘ severe intellectual disability ⓘ severe speech impairment ⓘ sleep disturbances ⓘ strabismus ⓘ |
| researchFocus |
antisense oligonucleotides to unsilence paternal UBE3A
ⓘ
gene therapy targeting UBE3A ⓘ |
| typicalOnset |
early childhood
ⓘ
infancy ⓘ |
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: Angelman syndrome Description of subject: Angelman syndrome is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, movement and balance problems, and a typically happy, excitable demeanor.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.