Tay-Sachs Disease
Disease ID: disease_node_7289
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| Dbxref | GARD:7737, ICD10CM:E75.02, MESH:D013661, MIM:272800, NCI:C85184, SNOMEDCT_US_2023_03_01:111385000, UMLS_CUI:C0039373 |
|---|---|
| Subclassof | DOID_3321 |
| Data Source | DOID, MESH |
| Synonyms | GM2 gangliosidosis, type 1, hexosaminidase A deficiency |
| Mesh Id | D013661 |
| Mesh Label | Tay-Sachs Disease |
| Mesh Subclassof | D020143 |
| Doid Label | Tay-Sachs disease |
| Doid Description | A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. OMIM mapping confirmed by DO. [SN]. |
| Existence Starts During | HP_0011463 |
| Disease Node Id | disease_node_7289 |
| Doid Id | DOID_3320 |
| Label | Tay-Sachs Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Gangliosidoses, Gm2(ID:disease_node_10086) (Disease)