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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84739
http://purl.obolibrary.org/obo/NCIT_C84739
|
|---|---|
| Preferred Name | GM1 Gangliosidosis |
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
GM1 Gangliosidosis
|
| prefLabel |
GM1 Gangliosidosis
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| in_subset | |
| Preferred_Name |
GM1 Gangliosidosis
|
| Display_Name |
GM1 Gangliosidosis
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| UMLS_CUI |
C0085131
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| prefixIRI |
NCIT:C84739
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| Contributing_Source |
Cellosaurus
CTRP
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| subClassOf | |
| code |
C84739
|
| type | |
| Semantic_Type |
Disease or Syndrome
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