| Metadata | |
|---|---|
| ID | DOID:3320 |
| Name | Tay-Sachs disease |
| Definition | 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. https://medlineplus.gov/genetics/condition/tay-sachs-disease/, https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease, https://www.ncbi.nlm.nih.gov/books/NBK1218/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:111385000 |
| Subsets |
DO_childhood_cancer_slim DO_rare_slim NCIthesaurus |
| Synonyms |
GM2 gangliosidosis, type 1 [EXACT] hexosaminidase A deficiency [EXACT] |
| Parent Relationships |
is_a GM2 gangliosidosis |