Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Preferred Name | GM1 Gangliosidosis | |
| Synonyms |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84739 |
|
| code |
C84739
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP
|
|
| 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.
|
|
| Display_Name |
GM1 Gangliosidosis
|
|
| FULL_SYN |
GM1 Gangliosidosis
|
|
| label |
GM1 Gangliosidosis
|
|
| Preferred_Name |
GM1 Gangliosidosis
|
|
| prefixIRI |
Thesaurus:C84739
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0085131
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping