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Details
Link-It Detail - Disease - Congenital Disorders of Glycosylation
Debug Stats
  • ### Total Build Time: 10 ms 18.527 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 434 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 261 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=0 Completed: 0 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.874 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 12.980 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Congenital Disorders of Glycosylation C0282577
CARB DEFIC GLYCOPROTEIN SYNDROME
Definition (1)
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Carbohydrate Metabolism, Inborn Errors C0007001
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
Relationships (33)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 7
diso_​to_​diso : 22
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 13
isa : 3
mapped_​to : 16
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN54img genetic aspects C0017399
DISO_to_PHEN33img genetic aspects C0017399
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM14img Phosphotransferases (Phosphomutases) C0206356
DISO_to_CHEM11img Phosphotransferases (Phosphomutases) C0206356
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Glycoproteins C0017968
DISO_to_CHEM5img Membrane Associated Proteins C0025252
DISO_to_CHEM5img Membrane Proteins C0025252
DISO_to_CHEM5img Oligosaccharides C0028959
DISO_to_CHEM5img Transferrin C0040679
DISO_to_PHYS5img Mutation C0026882
DISO_to_DISOisaimg ALKURAYA SYNDROME C2931008
DISO_to_DISOpermuted_term_ofimg CARB DEFIC GLYCOPROTEIN SYNDROME C0282577
DISO_to_DISOisaimg CDG - Carbohydrate-deficient glycoprotein syndrome type III C0349655
DISO_to_DISOmapped_toimg CDG Ib C1865145
DISO_to_DISOisaimg Carbohydrate-deficient glycoprotein syndrome type I C0349653
DISO_to_DISOmapped_toimg Carbohydrate-deficient glycoprotein syndrome type V C2930997
DISO_to_DISOmapped_toimg Carbohydrate-deficient glycoprotein syndrome, type 4 C2930998
DISO_to_DISOmapped_toimg Congenital disorder of glycosylation type 1E C2930999
DISO_to_DISOmapped_toimg Congenital disorder of glycosylation type 1F C2931000
DISO_to_DISOmapped_toimg Congenital disorder of glycosylation type 1G C2931001
DISO_to_DISOmapped_toimg Congenital disorder of glycosylation type 1H C2931002
DISO_to_DISOmapped_toimg Congenital disorder of glycosylation type 1I C2931003
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0282577Congenital Disorders of Glycosylation0self