"DOID:3323"^^ . "MESH:D012497"^^ . "OMIM:268800"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . "SNOMEDCT_US_2021_09_01:23849003"^^ . "Sandhoff Jatzkewitz disease"@en . "MESH:D012497"^^ . "ICD10CM:E75.01"^^ . . "disease_ontology"^^ . "NCI:C85052"^^ . . . "UMLS_CUI:C0036161"^^ . . "GARD:7604"^^ . "Sandhoff disease"^^ . "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."^^ .