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Details
Link-It Detail - Disease - Gangliosidosis, GM1
Debug Stats
  • ### Total Build Time: 79 ms 20.687 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 467 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=33 ms Completed: 33 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.389 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 6.912 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 5.692 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gangliosidosis, GM1 C0085131
Definition (1)
An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Gangliosidoses C0017083
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 (14)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 8
diso_​to_​phen : 2


Relationships:
none : 7
associated_​with : 2
isa : 3
mth_​plain_​text_​form_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_CHEM25img beta-Galactosidase C0005220
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_CHEM15img beta-Galactosidase C0005220
DISO_to_ANAT9img Brain C0006104
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_DISO7img Mucopolysaccharidosis IV C0026707
DISO_to_CHEMassociated_withimg beta-Galactosidase C0005220
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg Adult GM1 Gangliosidosis C0268273
DISO_to_DISOisaimg Derry's disease C0268272
DISO_to_DISOmth_plain_text_form_ofimg Gangliosidosis GM1 C0085131
DISO_to_DISOisaimg Gangliosidosis, Generalized GM1, Type 1 (disorder) C0268271
DISO_to_DISOuseimg beta-Galactosidase Deficiency C2718068
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanGLB12720galactosidase, beta 1
img GENERIF, Score=1000, Pubmed Id: 17664528, UMLKSK CUI: C0085131
img GENERIF, Score=1000, Pubmed Id: 16941474, UMLKSK CUI: C0085131
img OMIM, Score=1000, UMLKSK CUI: C0085131
img GENERIF, Score=734, Pubmed Id: 18524657, UMLKSK CUI: C0085131
img OMIM, Score=1000, UMLKSK CUI: C0085131
img GENERIF, Score=1000, Pubmed Id: 17309651, UMLKSK CUI: C0085131
HumanCHIT11118chitinase 1 (chitotriosidase)
img GENERIF, Score=1000, Pubmed Id: 17291472, UMLKSK CUI: C0085131
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085131Gangliosidosis, GM10self