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DO Term : Sandhoff disease [DOID:3323] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:268800,
  • 268800,
  • NCI:C85052,
  • SNOMEDCT_US_2023_03_01:23849003,
  • GARD:7604,
  • UMLS_CUI:C0036161,
  • MESH:D012497,
  • Sandhoff Jatzkewitz disease,
  • ICD10CM:E75.01
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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