| Metadata | |
|---|---|
| ID | DOID:4795 |
| Name | GM2 gangliosidosis, AB variant |
| Definition | A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant |
| Xrefs |
SNOMEDCT_US_2023_03_01:71253000 |
| Subsets |
NCIthesaurus |
| Synonyms |
Tay-Sachs disease AB variant [EXACT] Tay-Sachs disease, variant AB [EXACT] |
| Parent Relationships |
is_a GM2 gangliosidosis |