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Details
Link-It Detail - Disease - Glycogen Storage Disease Type VIII
Debug Stats
  • ### Total Build Time: 49 ms 13.077 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 366 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 444 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=1 ms Completed: 1 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= 1,004 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.173 KB
  • CONCEPT_RELATIONSHIPS gt=24 ms Completed: 24 ms rowSize= 4.122 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 1.624 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Glycogen Storage Disease Type VIII C0017927
Definition (1)
x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Glycogen Storage Disease C0017919
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Glycogen Storage Disease C0017919
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Glycogen Storage Disease C0017919
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (7)

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


Relationships:
none : 3
associated_​with : 2
use : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT2img Chromosome, Human X C1136735
DISO_to_CHEM2img Phosphorylase Kinase C0031713
DISO_to_PHEN2img genetic aspects C0017399
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_CHEMassociated_withimg Glycogen Phosphorylase, Muscle Form C0917783
DISO_to_DISOuseimg Glycogen Storage Disease Type VIII C0017927
DISO_to_DISOuseimg Glycogen storage disease, type IX C0268147
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPHKB5257phosphorylase kinase, beta
img GAD, Score=972, Pubmed Id: 9402963, UMLKSK CUI: C0017927
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017927Glycogen Storage Disease Type VIII0self