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Details
Link-It Detail - Disease - Glycogen Storage Disease Type III
Debug Stats
  • ### Total Build Time: 48 ms 19.932 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 530 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.847 KB
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  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.371 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease Type III C0017922
Definition (1)
autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Glycogen Storage Disease C0017919
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
Relationships (40)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 34
diso_​to_​phen : 2


Relationships:
none : 5
associated_​with : 3
manifestation_​of : 27
permuted_​term_​of : 1
related_​to : 4
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_CHEM12img Glycogen Debranching Enzyme System C0017915
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM11img Glycogen Debranching Enzyme System C0017915
DISO_to_CHEMassociated_withimg AMYLO-1,6-GLUCOSIDASE C0051775
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Amylo-1,6-glucosidase deficiency C2936915
DISO_to_DISOmanifestation_ofimg Bow-shaped lips C1856339
DISO_to_DISOmanifestation_ofimg Broad upturned nasal tip C1856338
DISO_to_DISOmanifestation_ofimg Cardiomyopathies C0878544
DISO_to_DISOmanifestation_ofimg Caused by mutation in the amylo-1,6-glucosidase, 4-alpha-glucoanotransferase gene (AGL, 610860.0001) C3278158
DISO_to_DISOmanifestation_ofimg Deep set eyes C1860310
DISO_to_DISOmanifestation_ofimg Depressed nasal bridge C1836542
DISO_to_DISOmanifestation_ofimg Distal muscle wasting C1850192
DISO_to_DISOmanifestation_ofimg Elevated transaminases C0438717
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg FIBROSIS LIVER C0239946
DISO_to_DISOrelated_toimg GLYCOGEN STORAGE DISEASE IIIa C1968739
DISO_to_DISOrelated_toimg GLYCOGEN STORAGE DISEASE IIIb C1968740
DISO_to_DISOrelated_toimg GLYCOGEN STORAGE DISEASE IIIc C1968741
DISO_to_DISOrelated_toimg GLYCOGEN STORAGE DISEASE IIId C1968742
DISO_to_DISOpermuted_term_ofimg Glycogen Storage Disease Type III C0017922
DISO_to_DISOmanifestation_ofimg Growth retardation C0151686
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanAGL178amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
img OMIM, Score=1000, UMLKSK CUI: C0017922
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017922Glycogen Storage Disease Type III0self