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loading...| Preferred Name | Gangliosidoses, GM2 [Disease/Finding] | |
| Synonyms |
Gangliosidoses GM2 GM2 Gangliosidosis Gangliosidoses, GM2 G(M2) Gangliosidoses |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004000 |
|
| altLabel |
Gangliosidoses GM2 GM2 Gangliosidosis Gangliosidoses, GM2 G(M2) Gangliosidoses |
|
| cui |
C0268274 |
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| MESH DEFINITION |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
|
| MESH DUI |
D020143 |
|
| MeSH name |
Gangliosidoses, GM2 |
|
| MESH UI |
M0328040 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004000 |
|
| NUI |
N0000004000 |
|
| prefLabel |
Gangliosidoses, GM2 [Disease/Finding] |
|
| SNOMED CID |
33316007 |
|
| tui |
T047 |
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| subClassOf |
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