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loading...| Preferred Name |
Gangliosidoses [Disease/Finding] |
|
| Synonyms |
Ganglioside Storage Diseases Gangliosidosis |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001308 |
|
| altLabel |
Ganglioside Storage Diseases Ganglioside Storage Disorders Gangliosidoses Gangliosidosis |
|
| cui |
C0017083 |
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| MESH DEFINITION |
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
|
| MESH DUI |
D005733 |
|
| MeSH name |
Gangliosidoses |
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| MESH UI |
M0008988 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000001308 |
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| NUI |
N0000001308 |
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| prefLabel |
Gangliosidoses [Disease/Finding] |
|
| SNOMED CID |
50967008 |
|
| tui |
T047 |
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| subClassOf |
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