1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3320 | Tay-Sachs disease | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:1927 | sphingolipidosis | A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. |
