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Details
Link-It Detail - Disease - Gangliosidoses, GM2
Debug Stats
  • ### Total Build Time: 34 ms 18.166 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 498 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=8 ms Completed: 8 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 1.403 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.389 KB
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 7.569 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.089 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gangliosidoses, GM2 C0268274
Definition (1)
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Gangliosidoses C0017083
Children (3)
img Tay-Sachs Disease C0039373
img Sandhoff Disease C0036161
img Tay-Sachs Disease, AB Variant C0268275
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Gangliosidoses C0017083
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Gangliosidoses C0017083
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Gangliosidoses C0017083
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Gangliosidoses C0017083
Relationships (16)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 10
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
associated_​with : 2
isa : 5
sort_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_CHEM9img BETA-N-ACETYLHEXOSAMINIDASE C0005270
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_ANAT3img Brain C0006104
DISO_to_DISO3img CAT DIS C0007350
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_DISO3img Gangliosidosis GM1 C0085131
DISO_to_PHYS3img Mutation C0026882
DISO_to_CHEMassociated_withimg BETA-N-ACETYLHEXOSAMINIDASE C0005270
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg Adult chronic GM2 gangliosidosis C0268277
DISO_to_DISOisaimg Bernheimer-Seitelberger disease C0268276
DISO_to_DISOsort_version_ofimg Gangliosidoses, GM2 C0268274
DISO_to_DISOisaimg Infantile GM2 gangliosidosis C0268278
DISO_to_DISOisaimg Sandhoff Disease C0036161
DISO_to_DISOisaimg Tay-Sachs Disease C0039373
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanHEXB3074hexosaminidase B (beta polypeptide)
INFERRED, Score=800, UMLKSK CUI: C0268274
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268274Gangliosidoses, GM20self