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Details
Link-It Detail - Disease - Renal Aminoacidurias
Debug Stats
  • ### Total Build Time: 19 ms 18.233 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 473 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=2 ms Completed: 2 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 981 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 5.497 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 4.674 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.338 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Renal Aminoacidurias C0002534
Aminoaciduria, Renal
Definition (1)
A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Renal Tubular Transport, Inborn Errors C0035091
Children (2)
img Cystinuria C0010691
img Hartnup Disease C0018609
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
Relationships (9)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 6
diso_​to_​phen : 2


Relationships:
none : 4
mapped_​to : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_CHEM2img Lysine C0024337
DISO_to_DISO2img Complication Aspects C1171258
DISO_to_PHEN2img genetic aspects C0017399
DISO_to_DISOpermuted_term_ofimg Aminoaciduria, Renal C0002534
DISO_to_DISOmapped_toimg Dicarboxylic amino aciduria C1857253
DISO_to_DISOmapped_toimg GRACILE SYNDROME (disorder) C1864002
DISO_to_DISOmapped_toimg GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA C0268426
DISO_to_DISOmapped_toimg Histidine transport defect (disorder) C0268642
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
INFERRED, Score=800, UMLKSK CUI: C0002534
HumanPREPL9581prolyl endopeptidase-like
INFERRED, Score=800, UMLKSK CUI: C0002534
HumanSUCLG18802succinate-CoA ligase, alpha subunit
img OMIM, Score=1000, UMLKSK CUI: C0002534
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
INFERRED, Score=800, UMLKSK CUI: C0002534
HumanSLC1A56510solute carrier family 1 (neutral amino acid transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0002534
HumanARG1383arginase 1
INFERRED, Score=800, UMLKSK CUI: C0002534
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002534Renal Aminoacidurias0self