has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of GLB1 beta-galactosidase activity eye disorder bone disorder obsolete neuro-ophthalmological disease gangliosidosis GM1 gangliosidosis https://github.com/monarch-initiative/mondo/pull/2571/ https://www.malacards.org/card/gm1_gangliosidosis SCTID:238025006 Beta galactosidase 1 deficiency NANDO:1200066 GM>1< gangliosidosis NCIT:C84739 GARD:0010891 gangliosidosis GM1 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. Landing syndrome MESH:D016537 DOID:3322 ICD9:277.6 MONDO:0018149 GLB 1 deficiency UMLS:C0085131 GLB1 deficiency Landing disease SCTID:124465002 Beta-galactosidase-1 deficiency Orphanet:354 icd11.foundation:401105928 NANDO:2200558 MEDGEN:43107 Beta-galactosidosis