Pompe disease
E1550585
UNEXPLORED
Pompe disease is a rare inherited metabolic disorder caused by deficiency of the enzyme acid alpha-glucosidase, leading to progressive muscle weakness and cardiomyopathy due to glycogen buildup in cells.
All labels observed (1)
| Label | Occurrences |
|---|---|
| Pompe disease canonical | 2 |
How this entity was disambiguated
This entity first appeared as the object of triple T22717600 — 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: Pompe disease Context triple: [Genzyme, developsTreatmentFor, Pompe disease]
-
A.
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.
-
B.
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.
-
C.
McArdle
McArdle is a surname most notably associated with Andrea McArdle, the American actress and singer who originated the title role in the Broadway musical "Annie."
-
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.
Sarepta
Sarepta is an ancient Phoenician coastal town, known from the Bible as the place where the prophet Elijah stayed with a widow during a severe famine.
- 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: Pompe disease Target entity description: Pompe disease is a rare inherited metabolic disorder caused by deficiency of the enzyme acid alpha-glucosidase, leading to progressive muscle weakness and cardiomyopathy due to glycogen buildup in cells.
-
A.
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.
-
B.
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.
-
C.
McArdle
McArdle is a surname most notably associated with Andrea McArdle, the American actress and singer who originated the title role in the Broadway musical "Annie."
-
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.
Sarepta
Sarepta is an ancient Phoenician coastal town, known from the Bible as the place where the prophet Elijah stayed with a widow during a severe famine.
- F. None of above. chosen
Referenced by (2)
Full triples — surface form annotated when it differs from this entity's canonical label.