loading...| Preferred Name |
gangliosidosis |
|
| Synonyms |
amaurotic familial idiocy |
|
| Definitions |
group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-8576 |
|
| altLabel |
amaurotic familial idiocy |
|
| cui |
C0017083 C0282220 |
|
| definition |
group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration. |
|
| DID |
1849-8576 |
|
| Inverse of RB | ||
| Inverse of RN |
http://purl.bioontology.org/ontology/CSP/1849-8747 |
|
| Inverse of RO | ||
| notation |
1849-8576 |
|
| prefLabel |
gangliosidosis |
|
| tui |
T047 |
|
| subClassOf |