has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of HEXA beta-N-acetylhexosaminidase activity eye disorder Tay-Sachs disease https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease https://www.malacards.org/card/tay_sachs_disease GM2-gangliosidosis, several forms MESH:D013661 Tay-Sachs disease gangliosidosis GM2, type 1 GM2 gangliosidosis, type 1 UMLS:C0039373 hexosaminidase A deficiency MedDRA:10043147 MONDO:0010100 ICD10CM:E75.02 OMIM:272800 NCIT:C85184 DOID:3320 SCTID:49562005 NANDO:2201199 Tay Sachs Disease disease, Tay-Sachs GARD:0007737 Orphanet:845 icd11.foundation:215008783 TSD Hex A pseudodeficiency GM2 gangliosidosis, B, B1 variant NORD:1761 hexosaminidase alpha-subunit deficiency (variant B) NANDO:1200071 SCTID:111385000 GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. MEDGEN:11713 sphingolipidosis, Tay-Sachs B variant GM2 gangliosidosis GM2 gangliosidosis hereditary peripheral neuropathy cerebral lipidosis with dementia