loading...| Preferred Name | GM1 Gangliosidosis | |
| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#GM1_Gangliosidosis |
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| DEFINITION |
An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas. |
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| isDefinedBy |
An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas. |
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| label |
GM1 Gangliosidosis |
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| prefixIRI |
Thesaurus:GM1_Gangliosidosis |
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| prefLabel |
GM1 Gangliosidosis |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lysosomal_Storage_Disease |