Preferred Name |
Tay-Sachs disease |
|
Synonyms |
GM2 gangliosidosis, type 1 |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3320 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0039373 SNOMEDCT_US_2023_03_01:111385000 MESH:D013661 OMIM:272800 ICD10CM:E75.02 GARD:7737 NCI:C85184 |
|
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. |
|
existence starts during | ||
has exact synonym |
GM2 gangliosidosis, type 1 hexosaminidase A deficiency |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3320 |
|
in_subset | ||
label |
Tay-Sachs disease |
|
notation |
DOID:3320 |
|
prefLabel |
Tay-Sachs disease |
|
subClassOf |