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Details
Link-It Detail - Disease - Aspartylglucosaminuria
Debug Stats
  • ### Total Build Time: 30 ms 19.935 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 325 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=20 ms Completed: 20 ms rowSize= 12.957 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.552 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aspartylglucosaminuria C0268225
Definition (1)
A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Lysosomal Storage Diseases C0085078
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lysosomal Storage Diseases C0085078
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lysosomal Storage Diseases C0085078
Relationships (54)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 51
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 2
manifestation_​of : 49
mapped_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM2img Aspartylglucosylaminase C0004025
DISO_to_PHEN2img genetic aspects C0017399
DISO_to_CHEMassociated_withimg beta-Aspartyl-N-acetylglucosaminidase (substance) C0053385
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg 98% of Finnish cases due to one mutation C1859687
DISO_to_DISOmanifestation_ofimg Acne C0702166
DISO_to_DISOmanifestation_ofimg Anteverted nostrils C1837721
DISO_to_DISOmapped_toimg Aspartylglucosamidase (AGA) deficiency C2931840
DISO_to_DISOmanifestation_ofimg Aspartylglucosaminuria C0268225
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Broad face C1859680
DISO_to_DISOmanifestation_ofimg Carrier frequency in Finland 1/40 C1859688
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Congenital macroglossia C0009677
DISO_to_DISOmanifestation_ofimg Crystal-like lens opacity C1859681
DISO_to_DISOmanifestation_ofimg Decreased prothrombin time C0580413
DISO_to_DISOmanifestation_ofimg Delayed skeletal maturation C1850086
DISO_to_DISOmanifestation_ofimg Diarrhea C0011991
DISO_to_DISOmanifestation_ofimg Due to mutation in the aspartylglucosaminidase gene (AGA, 208400.0001) C3150123
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Fabry Disease C0002986
DISO_to_DISOmanifestation_ofimg Flattening and anterior beaking of vertebral bodies C1859683
DISO_to_DISOmanifestation_ofimg Fractures, Spontaneous C0016663
DISO_to_DISOmanifestation_ofimg Hernia C0019270
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanAGA175aspartylglucosaminidase
img GENERIF, Score=1000, Pubmed Id: 18992224, UMLKSK CUI: C0268225
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268225Aspartylglucosaminuria0self