Sandhoff disease

Term ID

DOID:3323

Synonyms

• Sandhoff Jatzkewitz disease

Definition

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. https://ghr.nlm.nih.gov/condition/sandhoff-disease

References

• GARD:7604
• ICD10CM:E75.01
• MESH:D012497
• NCI:C85052
• OMIM:268800
• SNOMEDCT_US_2023_03_01:23849003
• UMLS_CUI:C0036161

Ontology

Human Disease   ( DOID:3323 )