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Details
Link-It Detail - Disease - Sandhoff Disease
Debug Stats
  • ### Total Build Time: 27 ms 26.149 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 550 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 987 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 10.564 KB
  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 8.028 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 4.364 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Sandhoff Disease C0036161
Definition (1)
An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Gangliosidoses C0017083
img Gangliosidoses, GM2 C0268274
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Gangliosidoses C0017083
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Gangliosidoses C0017083
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Gangliosidoses C0017083
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Gangliosidoses C0017083
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Gangliosidoses, GM2 C0268274
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501239img Gangliosidoses, GM2 C0268274
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255179img Gangliosidoses, GM2 C0268274
img Nervous System Diseases C0027765img Central Nervous System Diseases C000768210img Gangliosidoses, GM2 C0268274
Relationships (17)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 11
diso_​to_​phen : 2


Relationships:
none : 8
associated_​with : 2
entry_​version_​of : 1
isa : 3
related_​to : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_CHEM13img BETA-N-ACETYLHEXOSAMINIDASE C0005270
DISO_to_ANAT11img Brain C0006104
DISO_to_CHEM9img BETA-N-ACETYLHEXOSAMINIDASE C0005270
DISO_to_DISO7img Tay-Sachs Disease C0039373
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISO5img Animal Disease Models C0012644
DISO_to_CHEMassociated_withimg BETA-N-ACETYLHEXOSAMINIDASE C0005270
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOrelated_toimg SANDHOFF DISEASE, ADULT TYPE C1849320
DISO_to_DISOrelated_toimg SANDHOFF DISEASE, INFANTILE TYPE C1849322
DISO_to_DISOrelated_toimg SANDHOFF DISEASE, JUVENILE TYPE C1849321
DISO_to_DISOentry_version_ofimg Sandhoff Disease C0036161
DISO_to_DISOisaimg Total hexosaminidase deficiency - adult C0342807
DISO_to_DISOisaimg Total hexosaminidase deficiency - infantile C0342805
DISO_to_DISOisaimg Total hexosaminidase deficiency - juvenile C0342806
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanHEXB3074hexosaminidase B (beta polypeptide)
img GENERIF, Score=1000, Pubmed Id: 18930675, UMLKSK CUI: C0036161
img GENERIF, Score=1000, Pubmed Id: 15953731, UMLKSK CUI: C0036161
img GAD, Score=1000, Pubmed Id: 1975561, UMLKSK CUI: C0036161
img GENERIF, Score=901, Pubmed Id: 17251047, UMLKSK CUI: C0036161
img GENERIF, Score=1000, Pubmed Id: 12706724, UMLKSK CUI: C0036161
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0036161Sandhoff Disease0self