loading...| Preferred Name |
Gangliosidosis, GM1 [Disease/Finding] |
|
| Synonyms |
Gangliosidosis, GM1 |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003432 |
|
| altLabel |
Gangliosidosis, GM1 Beta-Galactosidosis GM1 Gangliosidosis Gangliosidosis GM1 G(M1) Gangliosidosis Gangliosidosis G(M1) Beta-Galactosidase-1 Deficiency Disease |
|
| cui |
C0085131 |
|
| MESH DEFINITION |
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) |
|
| MESH DUI |
D016537 |
|
| MeSH name |
Gangliosidosis, GM1 |
|
| MESH UI |
M0025239 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003432 |
|
| NUI |
N0000003432 |
|
| prefLabel |
Gangliosidosis, GM1 [Disease/Finding] |
|
| SNOMED CID |
124465002 238025006 32917001 |
|
| tui |
T047 |
|
| subClassOf |