loading...| Preferred Name |
GM1 gangliosidosis |
|
| Synonyms |
GM>1< gangliosidosis GLB1 deficiency deficiency of beta-galactosidase Beta-galactosidase-1 deficiency Landing disease Beta-galactosidase deficiency Landing syndrome gangliosidosis GM1 beta-galactosidase deficiency Beta galactosidase 1 deficiency Beta-galactosidosis GLB 1 deficiency |
|
| 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 |
|
| database_cross_reference |
UMLS:C0085131 Orphanet:354 NANDO:2200558 MESH:D016537 SCTID:124465002 NANDO:1200066 NCIT:C84739 DOID:3322 GARD:10891 ICD9:277.6 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/124465002 http://purl.obolibrary.org/obo/NCIT_C84739 http://purl.obolibrary.org/obo/DOID_3322 http://linkedlifedata.com/resource/umls/id/C0085131 |
|
| has_exact_synonym |
GM>1< gangliosidosis GLB1 deficiency deficiency of beta-galactosidase Beta-galactosidase-1 deficiency Landing disease Beta-galactosidase deficiency Landing syndrome gangliosidosis GM1 beta-galactosidase deficiency |
|
| has_related_synonym |
Beta galactosidase 1 deficiency Beta-galactosidosis GLB 1 deficiency |
|
| IAO_0000233 | ||
| id |
MONDO:0018149 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
GM1 gangliosidosis |
|
| notation |
MONDO:0018149 |
|
| prefLabel |
GM1 gangliosidosis |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 |
|
| excluded_subClassOf |