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loading...| Preferred Name | GM2 Gangliosidosis | |
| Synonyms |
GM2 gangliosidosis, unspecified GM2 Gangliosidosis |
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| Definitions |
A group of rare autosomal recessively inherited progressive neurological disorders caused by GM2 ganglioside accumulation in lysosomes. Representative examples include Tay-Sachs and Sandhoff disease. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197908 |
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| code |
C197908 |
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| Concept_In_Subset | ||
| Contributing_Source |
mCode |
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| DEFINITION |
A group of rare autosomal recessively inherited progressive neurological disorders caused by GM2 ganglioside accumulation in lysosomes. Representative examples include Tay-Sachs and Sandhoff disease. |
|
| FULL_SYN |
GM2 gangliosidosis, unspecified GM2 Gangliosidosis |
|
| label |
GM2 Gangliosidosis |
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| Preferred_Name |
GM2 Gangliosidosis |
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| prefixIRI |
Thesaurus:C197908 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268274 |
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| subClassOf |
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