loading...| Preferred Name |
GM1 Gangliosidosis |
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| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84739 |
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| code |
C84739 |
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| Contributing_Source |
Cellosaurus CTRP |
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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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| Display_Name |
GM1 Gangliosidosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
GM1 Gangliosidosis |
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| Preferred_Name |
GM1 Gangliosidosis |
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| prefixIRI |
NCIT:C84739 |
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| prefLabel |
GM1 Gangliosidosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085131 |
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| subClassOf |