loading...| 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 |