Tay-Sachs disease

Definition

GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.

Also known as disease, Tay-Sachs, GM2 gangliosidosis, B, B1 variant, GM2-gangliosidosis, several forms, Hex A pseudodeficiency, hexosaminidase A deficiency, Tay Sachs Disease, Tay-Sachs disease — per MONDO

Also identified as

• DOID 3320 per MONDO
• ICD10CM E75.02 per MONDO
• MESH D013661 per MONDO
• NCIT C85184 per MONDO
• OMIM 272800 per MONDO
• Orphanet 845 per MONDO
• SCTID 111385000 per MONDO
• SCTID 49562005 per MONDO
• UMLS C0039373 per MONDO