Preferred Name |
Tay Sachs disease |
|
Synonyms |
gangliosidosis GM2 type I |
|
Definitions |
autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-8690 |
|
altLabel |
gangliosidosis GM2 type I hexosaminidase A deficiency |
|
cui |
C0039373 |
|
definition |
autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry. |
|
DID |
1849-8690 |
|
Inverse of RB | ||
Inverse of RO | ||
notation |
1849-8690 |
|
prefLabel |
Tay Sachs disease |
|
tui |
T047 |
|
subClassOf |