loading...| Preferred Name |
GM1 gangliosidosis |
|
| Synonyms |
Landing disease Beta-galactosidase-1 deficiency beta-galactosidase deficiency gangliosidosis GM1 deficiency of beta-galactosidase Landing syndrome GLB1 deficiency Beta-galactosidase deficiency GM>1< gangliosidosis GLB 1 deficiency Beta galactosidase 1 deficiency Beta-galactosidosis |
|
| Definitions |
A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018149 |
|
| has_exact_synonym |
Landing disease Beta-galactosidase-1 deficiency beta-galactosidase deficiency gangliosidosis GM1 deficiency of beta-galactosidase Landing syndrome GLB1 deficiency Beta-galactosidase deficiency GM>1< gangliosidosis |
|
| has_related_synonym |
GLB 1 deficiency Beta galactosidase 1 deficiency Beta-galactosidosis |
|
| label |
GM1 gangliosidosis |
|
| prefixIRI |
MONDO:0018149 |
|
| prefLabel |
GM1 gangliosidosis |
|
| textual definition |
A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005381 |