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Details
Link-It Detail - Disease - Argininosuccinic Aciduria
Debug Stats
  • ### Total Build Time: 50 ms 22.611 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 396 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= 564 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.150 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 12.955 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.851 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Argininosuccinic Aciduria C0268547
Definition (1)
A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Urea Cycle Disorders, Inborn C0154246
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Urea Cycle Disorders, Inborn C0154246
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Urea Cycle Disorders, Inborn C0154246
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Urea Cycle Disorders, Inborn C0154246
Relationships (35)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 32
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 2
manifestation_​of : 29
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_CHEM5img ARGININOSUCCINATE LYASE C0003775
DISO_to_CHEMassociated_withimg ARGININOSUCCINATE LYASE C0003775
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ALKALOSIS RESPIRATORY C0002064
DISO_to_DISOmanifestation_ofimg Arginine deficiency C1859735
DISO_to_DISOpermuted_term_ofimg Argininosuccinic Aciduria C0268547
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Bamboo hair C0263485
DISO_to_DISOmanifestation_ofimg Brittle, dry hair C1859734
DISO_to_DISOmanifestation_ofimg Caused by mutation in the argininosuccinate lyase gene (ASL, 608310.0001) C3150121
DISO_to_DISOmanifestation_ofimg Cerebral Edema C0006114
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Elevated serum glutamic oxaloacetic transaminase (SGOT) C3150119
DISO_to_DISOmanifestation_ofimg Elevated serum glutamic pyruvic transaminase (SGPT) C3150120
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Episodic ammonia intoxication C1839541
DISO_to_DISOmanifestation_ofimg FIBROSIS LIVER C0239946
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Feeding poor C0576456
DISO_to_DISOmanifestation_ofimg HYPERAMMONAEMIA C0220994
DISO_to_DISOmanifestation_ofimg Hepatic argininosuccinase deficiency C1859732
DISO_to_DISOmanifestation_ofimg High plasma citrulline (100-300 micromolar) C1859731
DISO_to_DISOmanifestation_ofimg High plasma glutamine C1839533
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanASL435argininosuccinate lyase
img GENERIF, Score=734, Pubmed Id: 12408190, UMLKSK CUI: C0268547
img GENERIF, Score=1000, Pubmed Id: 17326097, UMLKSK CUI: C0268547
img OMIM, Score=1000, UMLKSK CUI: C0268547
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268547Argininosuccinic Aciduria0self