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Details
Link-It Detail - Disease - BARTTER SYNDROME, TYPE 4A
Debug Stats
  • ### Total Build Time: 14 ms 19.455 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 12.451 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 5.435 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BARTTER SYNDROME, TYPE 4A C1865270
Relationships (37)

Relation Types:
diso_​to_​diso : 36
diso_​to_​phys : 1


Relationships:
alias_​of : 1
manifestation_​of : 35
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg ALDOSTERONISM C0020428
DISO_to_DISOalias_ofimg BARTTER SYNDROME, TYPE 4A C1865270
DISO_to_DISOmanifestation_ofimg Caused by mutation in the barttin gene (BSND, 606412.0001) C1865281
DISO_to_DISOmanifestation_ofimg Chloride, decreased level C0085680
DISO_to_DISOmanifestation_ofimg Chronic renal failure ICD10CM:N18.9 C3276057
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased glomerular filtration rate C0853068
DISO_to_DISOmanifestation_ofimg Delay in motor development C1864913
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Fetal polyuria C1865279
DISO_to_DISOmanifestation_ofimg Global glomerulosclerosis C1865276
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Hydrops Fetalis C0020305
DISO_to_DISOmanifestation_ofimg Hypokalemia C0020621
DISO_to_DISOmanifestation_ofimg Hypokalemic hypochloremic metabolic alkalosis C0740896
DISO_to_DISOmanifestation_ofimg Hyponatremia C0020625
DISO_to_DISOmanifestation_ofimg Inability to concentrate urine C1865273
DISO_to_DISOmanifestation_ofimg Increased urinary chloride C1846352
DISO_to_DISOmanifestation_ofimg Increased urinary potassium C1846351
DISO_to_DISOmanifestation_ofimg Increased urinary sodium C0854101
DISO_to_DISOmanifestation_ofimg Increased urine volume C0032617
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Loss of definition of corticomedullary differentiation C1865277
DISO_to_DISOmanifestation_ofimg Motor retardation C0424230
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
img GENERIF, Score=694, Pubmed Id: 17954364, UMLKSK CUI: C1865270
img GENERIF, Score=1000, Pubmed Id: 18094726, UMLKSK CUI: C1865270
img GENERIF, Score=812, Pubmed Id: 16572343, UMLKSK CUI: C1865270
img OMIM, Score=1000, UMLKSK CUI: C1865270
HumanCLCNKB1188chloride channel, voltage-sensitive Kb
img OMIM, Score=1000, UMLKSK CUI: C1865270
HumanCLCNKA1187chloride channel, voltage-sensitive Ka
img OMIM, Score=1000, UMLKSK CUI: C1865270
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1865270BARTTER SYNDROME, TYPE 4A0self