MPS II
E950113
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.
All labels observed (3)
| Label | Occurrences |
|---|---|
| Hunter syndrome | 1 |
| MPS II canonical | 1 |
| Mucopolysaccharidosis type II | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T11831466 — 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: MPS II Context triple: [Tongyong Pinyin, comparedWith, MPS II]
-
A.
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.
-
B.
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.
-
C.
PKU
PKU is a leading Chinese research university in Beijing renowned for its rigorous academics, influential alumni, and historic campus.
-
D.
Zellweger
Zellweger is the surname of Renée Zellweger, the acclaimed American actress known for roles in films such as "Bridget Jones's Diary," "Chicago," and "Judy."
-
E.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
- 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: MPS II Target entity description: 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.
-
A.
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.
-
B.
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.
-
C.
PKU
PKU is a leading Chinese research university in Beijing renowned for its rigorous academics, influential alumni, and historic campus.
-
D.
Zellweger
Zellweger is the surname of Renée Zellweger, the acclaimed American actress known for roles in films such as "Bridget Jones's Diary," "Chicago," and "Judy."
-
E.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
- F. None of above. chosen
Statements (52)
| Predicate | Object |
|---|---|
| instanceOf |
X-linked genetic disorder
ⓘ
lysosomal storage disease ⓘ mucopolysaccharidosis ⓘ rare disease ⓘ |
| hasAlternativeName |
Hunter syndrome
ⓘ
linked to:
MPS II
Mucopolysaccharidosis type II ⓘ
linked to:
MPS II
|
| hasCause | iduronate-2-sulfatase deficiency ⓘ |
| hasChromosomalLocation | Xq28 ⓘ |
| hasClinicalFeature |
airway obstruction
ⓘ
behavioral problems ⓘ cardiac valve disease ⓘ cardiomyopathy ⓘ coarse facial features ⓘ dysostosis multiplex ⓘ hearing loss ⓘ hepatosplenomegaly ⓘ inguinal hernia ⓘ intellectual disability ⓘ joint stiffness ⓘ progressive developmental delay ⓘ recurrent ear infections ⓘ short stature ⓘ sleep apnea ⓘ spinal canal stenosis ⓘ umbilical hernia ⓘ |
| hasComplication |
neurological deterioration
ⓘ
progressive cardiac disease ⓘ progressive respiratory failure ⓘ |
| hasDiagnosticTest |
measurement of iduronate-2-sulfatase activity
ⓘ
molecular genetic testing of IDS gene ⓘ urinary glycosaminoglycan analysis ⓘ |
| hasEpidemiology | ultra-rare disorder ⓘ |
| hasGeneSymbol | IDS ⓘ |
| hasInheritancePattern | X-linked recessive ⓘ |
| hasManagement | multidisciplinary care ⓘ |
| hasOnset | childhood ⓘ |
| hasPathophysiology |
accumulation of glycosaminoglycans
ⓘ
impaired degradation of dermatan sulfate ⓘ impaired degradation of heparan sulfate ⓘ |
| hasSubtypes |
attenuated form
ⓘ
severe form ⓘ |
| hasTreatment |
enzyme replacement therapy
ⓘ
idursulfase ⓘ idursulfase beta ⓘ |
| hasTreatmentGoal |
improve organ function
ⓘ
reduce glycosaminoglycan accumulation ⓘ |
| isEncodedByGene | IDS gene ⓘ |
| isListedIn |
OMIM:309900
ⓘ
Orphanet:558 ⓘ |
| isMoreCommonIn | males ⓘ |
| isNamedAfter | Charles Hunter ⓘ |
| isRareIn | females ⓘ |
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: MPS II Description of subject: 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.
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.
linked to: MPS II
linked to: MPS II