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Details
Link-It Detail - Disease - CDG IIb
Debug Stats
  • ### Total Build Time: 54 ms 10.361 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 312 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=45 ms Completed: 45 ms rowSize= 7.475 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.370 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.142 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CDG IIb C1853736
Relationships (18)

Relation Types:
diso_​to_​diso : 18


Relationships:
expanded_​form_​of : 1
manifestation_​of : 17
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abnormal urinary oligosaccharides C1853741
DISO_to_DISOmanifestation_ofimg Broad nose C1853571
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOexpanded_form_ofimg CDG IIb C1853736
DISO_to_DISOmanifestation_ofimg Caused by mutation in the glucosidase I gene (GCS1, 601336.0001) C1853742
DISO_to_DISOmanifestation_ofimg Clenched hands C0239815
DISO_to_DISOmanifestation_ofimg Congenital retrognathism C0035353
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Feeding difficulties C0232466
DISO_to_DISOmanifestation_ofimg Glucosidase I deficiency in liver and fibroblasts C1853739
DISO_to_DISOmanifestation_ofimg Long eyelashes C1853738
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Normal isoelectric focusing of serum transferrin C1853740
DISO_to_DISOmanifestation_ofimg Overlapping fingers C1446712
DISO_to_DISOmanifestation_ofimg Prominent occiput C1853737
DISO_to_DISOmanifestation_ofimg Seizures C0036572
DISO_to_DISOmanifestation_ofimg Short palpebral fissure C0423112
DISO_to_DISOmanifestation_ofimg Thoracic scoliosis C1857790
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMOGS7841mannosyl-oligosaccharide glucosidase
img OMIM, Score=1000, UMLKSK CUI: C1853736
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1853736CDG IIb0self