Tay-Sachs Disease, Ab Variant
Disease ID: disease_node_11382
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| Dbxref | MESH:D049290, MIM:272750, NCI:C133084, SNOMEDCT_US_2023_03_01:71253000, UMLS_CUI:C0268275 |
|---|---|
| Subclassof | DOID_3321 |
| Data Source | DOID, MESH |
| Synonyms | Tay-Sachs disease AB variant, Tay-Sachs disease, variant AB |
| Mesh Id | D049290 |
| Mesh Label | Tay-Sachs Disease, AB Variant |
| Mesh Subclassof | D020143 |
| Doid Label | GM2 gangliosidosis, AB variant |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_11382 |
| Doid Id | DOID_4795 |
| Label | Tay-Sachs Disease, Ab Variant |
- Outgoing r'ship
SUBCLASS_OFto/from Gangliosidoses, Gm2(ID:disease_node_10086) (Disease)