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Details
Link-It Detail - Disease - Amino Acid Transport Disorders, Inborn
Debug Stats
  • ### Total Build Time: 31 ms 9.054 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 527 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=3 ms Completed: 3 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 997 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 2.377 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Amino Acid Transport Disorders, Inborn C0751746
Definition (1)
Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (2)
img Oculocerebrorenal Syndrome C0028860
img Hartnup Disease C0018609
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (3)

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


Relationships:
none : 2
entry_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_CHEM3img Membrane Transport Proteins C0596902
DISO_to_DISOentry_version_ofimg AA TRANSPORT DIS INBORN C0751746
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751746Amino Acid Transport Disorders, Inborn0self