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Details
Link-It Detail - Disease - Gangliosidoses
Debug Stats
  • ### Total Build Time: 62 ms 24.064 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 379 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 481 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= 552 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.396 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=29 ms Completed: 29 ms rowSize= 5.396 KB
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 10.313 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 4.221 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Gangliosidoses C0017083
Disease, Gangliosidosis
Definition (1)
group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Sphingolipidoses C0037899
Children (3)
img Sandhoff Disease C0036161
img Gangliosidoses, GM2 C0268274
img Gangliosidosis, GM1 C0085131
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
Relationships (25)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 6
diso_​to_​diso : 12
diso_​to_​gene : 1


Relationships:
none : 20
isa : 3
permuted_​term_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT1img Brain C0006104
DISO_to_ANAT1img Cell, Endothelial C0225336
DISO_to_ANAT1img Dendrites C0011305
DISO_to_ANAT1img In Blood C0005768
DISO_to_ANAT1img Neuroglia C0027836
DISO_to_ANAT1img Peripheral Nerves C0031119
DISO_to_CHEM1img Amyloid beta-Peptides C0078939
DISO_to_CHEM1img Antibodies C0003241
DISO_to_CHEM1img Antigens, CD C0003322
DISO_to_CHEM1img Cytokines C0079189
DISO_to_CHEM1img Ganglioside C0017082
DISO_to_CHEM1img Glycolipid C0017950
DISO_to_DISO1img Ataxia C0004134
DISO_to_DISO1img Guillain-Barre Syndrome C0018378
DISO_to_DISO1img Mucolipidoses C0026697
DISO_to_DISO1img Peripheral Nervous System Diseases C0031117
DISO_to_DISO1img Retinal Diseases C0035309
DISO_to_DISO1img Sandhoff Disease C0036161
DISO_to_DISO1img Tay-Sachs Disease C0039373
DISO_to_GENE1img Class II Gene C0017349
DISO_to_DISOuseimg Amaurotic Familial Idiocy C0282220
DISO_to_DISOpermuted_term_ofimg Disease, Gangliosidosis C0017083
DISO_to_DISOisaimg Gangliosidoses, GM2 C0268274
DISO_to_DISOisaimg Gangliosidosis GM1 C0085131
DISO_to_DISOisaimg Mucolipidosis Type IV C0238286
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanHEXB3074hexosaminidase B (beta polypeptide)
INFERRED, Score=800, UMLKSK CUI: C0017083
HumanGLB12720galactosidase, beta 1
img GENERIF, Score=861, Pubmed Id: 16314480, UMLKSK CUI: C0017083
img GENERIF, Score=1000, Pubmed Id: 18088383, UMLKSK CUI: C0017083
img GENERIF, Score=1000, Pubmed Id: 18353697, UMLKSK CUI: C0017083
HumanCHIT11118chitinase 1 (chitotriosidase)
INFERRED, Score=800, UMLKSK CUI: C0017083
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017083Gangliosidoses0self