GM1 gangliosidosis
http://purl.obolibrary.org/obo/MONDO_0018149
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. [ Orphanet:354 ]
Term info
- SCTID:124465002 (MONDO:equivalentTo)
- NCIT:C84739 (MONDO:equivalentTo)
- Orphanet:354 (MONDO:equivalentTo)
- GARD:0010891 (MONDO:equivalentTo)
- DOID:3322 (MONDO:equivalentTo)
- MESH:D016537 (Orphanet:354/e)
- UMLS:C0085131 (Orphanet:354/e)
- ICD9:277.6 (MONDO:relatedTo)
ordo_disease
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.
http://purl.obolibrary.org/obo/NCIT_C84739, http://identifiers.org/snomedct/124465002, http://identifiers.org/mesh/D016537, http://purl.obolibrary.org/obo/Orphanet_354, http://linkedlifedata.com/resource/umls/id/C0085131, http://purl.obolibrary.org/obo/DOID_3322
Beta-galactosidase deficiency, Beta-galactosidase-1 deficiency, Landing syndrome, gangliosidosis GM1, GM>1< gangliosidosis, GLB1 deficiency, Landing disease, deficiency of beta-galactosidase, beta-galactosidase deficiency
GLB 1 deficiency, Beta galactosidase 1 deficiency, Beta-galactosidosis
MONDO:0018149