Sandhoff Disease

MONDO / Monarch checks

2026-04-14
OpenAI MONDO:0010006 Model: codex-local-synthesis 10 citations

MONDO / Monarch checks

  • MONDO:0010006 label matches Sandhoff disease.
  • MONDO:0010006 is a child of GM2 gangliosidosis (MONDO:0017720).
  • MONDO:0010100 Tay-Sachs disease remains a separate sibling branch.
  • MONDO child terms exist for Sandhoff disease, infantile / juvenile / adult forms.

ClinGen checks

  • ClinGen validity row maps HEXB to Sandhoff disease (MONDO:0010006).
  • ClinGen mode of inheritance is autosomal recessive.
  • ClinGen classification is Definitive.

Evidence coverage checks

  • Human Sandhoff abstracts used for inheritance, HEXB framing, and phenotype anchors.
  • Model-organism abstracts used for lysosomal dysfunction, gliosis, ER stress, and therapy nodes.
  • GM2-branch reviews / natural history were kept only where the abstract language applied to Sandhoff explicitly or stated no Tay Sachs versus Sandhoff difference.

Citation inventory