Huntington's chorea
E197487
autosomal dominant disease
hereditary disease
movement disorder
neurodegenerative disease
rare disease
Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
All labels observed (3)
| Label | Occurrences |
|---|---|
| Huntington's chorea canonical | 1 |
| Huntington's disease | 1 |
| Huntington’s chorea | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T1766659 — 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: Huntington's chorea Context triple: [Law for the Prevention of Hereditarily Diseased Offspring, targetedCondition, Huntington's chorea]
-
A.
Parkinson's disease
Parkinson's disease is a progressive neurodegenerative disorder characterized primarily by motor symptoms such as tremors, rigidity, and slowed movement, caused by the loss of dopamine-producing neurons in the brain.
-
B.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
C.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
D.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
E.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
- 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: Huntington's chorea Target entity description: Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
-
A.
Parkinson's disease
Parkinson's disease is a progressive neurodegenerative disorder characterized primarily by motor symptoms such as tremors, rigidity, and slowed movement, caused by the loss of dopamine-producing neurons in the brain.
-
B.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
C.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
D.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
E.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
- F. None of above. chosen
Statements (63)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal dominant disease
ⓘ
hereditary disease ⓘ movement disorder ⓘ neurodegenerative disease ⓘ rare disease ⓘ |
| anticipationMorePronouncedWith | paternal transmission ⓘ |
| chromosomalLocationOfGene | 4p16.3 ⓘ |
| encodesMutantProtein | mutant huntingtin protein ⓘ |
| hasCause | CAG trinucleotide repeat expansion in HTT gene ⓘ |
| hasClinicalCourse | progressive ⓘ |
| hasComplication |
aspiration pneumonia
ⓘ
falls ⓘ malnutrition ⓘ suicide risk ⓘ |
| hasDiagnosticCriterion | CAG repeat expansion above normal threshold ⓘ |
| hasDiagnosticTest | genetic testing for HTT CAG repeat length ⓘ |
| hasEpidemiology | more common in populations of European descent ⓘ |
| hasGeneticBasisIn | HTT gene ⓘ |
| hasJuvenileForm | juvenile Huntington's disease ⓘ |
| hasManagement | multidisciplinary care ⓘ |
| hasModeOfTransmission | vertical transmission from affected parent ⓘ |
| hasOnset | typically in mid-adulthood ⓘ |
| hasPathology |
neurodegeneration of caudate nucleus
ⓘ
neurodegeneration of striatum ⓘ neuronal loss in putamen ⓘ |
| hasPathophysiology | toxic gain-of-function of mutant huntingtin protein ⓘ |
| hasPenetrance | high penetrance for pathogenic CAG expansions ⓘ |
| hasPrevalence | approximately 5 to 10 per 100,000 in Western populations ⓘ |
| hasPrognosis |
progressive functional decline
ⓘ
reduced life expectancy ⓘ |
| hasRiskFactor | having a parent with Huntington's disease ⓘ |
| hasSymptom |
anxiety
ⓘ
apathy ⓘ bradykinesia ⓘ chorea ⓘ cognitive decline ⓘ depression ⓘ dysarthria ⓘ dysphagia ⓘ dystonia ⓘ executive dysfunction ⓘ gait disturbance ⓘ involuntary jerky movements ⓘ irritability ⓘ memory impairment ⓘ motor incoordination ⓘ obsessive-compulsive symptoms ⓘ psychiatric symptoms ⓘ psychosis ⓘ |
| hasSynonym |
HD
ⓘ
Huntington's chorea self-linksurface differs ⓘ
surface form:
Huntington's disease
|
| hasTreatment |
antidepressants for mood symptoms
ⓘ
antipsychotic medications for behavioral symptoms ⓘ deutetrabenazine for chorea ⓘ symptomatic treatment only ⓘ tetrabenazine for chorea ⓘ |
| hasTypicalAgeOfOnset | 30 to 50 years ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| isPreventableBy | no known primary prevention ⓘ |
| juvenileFormFeatures | rigidity and seizures more prominent ⓘ |
| namedAfter | George Huntington ⓘ |
| showsPhenomenon | anticipation ⓘ |
| typicalLifeExpectancyAfterOnset | about 15 to 20 years ⓘ |
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: Huntington's chorea Description of subject: Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.
Law for the Prevention of Hereditarily Diseased Offspring
→
targetedCondition
→
Huntington's chorea
ⓘ
this entity surface form:
Huntington's disease
this entity surface form:
Huntington’s chorea