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Details
Link-It Detail - Disease - Diabetes Insipidus, Nephrogenic
Debug Stats
  • ### Total Build Time: 141 ms 42.369 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 533 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=13 ms Completed: 13 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=12 ms Completed: 12 ms rowSize= 5.378 KB
  • CONCEPT_RELATIONSHIPS gt=65 ms Completed: 65 ms rowSize= 10.671 KB
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 23.523 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Diabetes Insipidus, Nephrogenic C0162283
Definition (1)
A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or aquaporin-2 (AQUAPORINS); KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Diabetes Insipidus C0011848
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Diabetes Insipidus C0011848
img Endocrine System Diseases C0014130img Pituitary Diseases C00320024img Diabetes Insipidus C0011848
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Diabetes Insipidus C0011848
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Diabetes Insipidus C0011848
Relationships (24)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 8
diso_​to_​diso : 11
diso_​to_​phen : 1
diso_​to_​phys : 3


Relationships:
none : 17
classifies : 2
clinically_​similar : 1
is_​primary_​anatomic_​site_​of_​disease : 1
mapped_​to : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN56img genetic aspects C0017399
DISO_to_CHEM30img Receptors, Vasopressin C0078077
DISO_to_DISO29img chemically induced C0007994
DISO_to_CHEM27img Aquaporin 2 C0213238
DISO_to_CHEM25img Receptors, Vasopressin C0078077
DISO_to_DISO25img chemically induced C0007994
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_PHYS20img Mutation C0026882
DISO_to_CHEM18img Aquaporins C0599635
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS9img Mutation C0026882
DISO_to_CHEM8img Aquaporin 2 C0213238
DISO_to_CHEM8img Lithium C0023870
DISO_to_CHEM8img Lithium Compounds C0206486
DISO_to_PHYS8img Mutation, Missense C0599155
DISO_to_CHEM7img Lithium Carbonate C0085217
DISO_to_DISO7img Genetic Diseases, X-Linked C1138434
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Endocrine system C0014136
DISO_to_DISOmapped_toimg ADH-resistant diabetes insipidus C0677501
DISO_to_DISOmapped_toimg Acquired Nephrogenic Diabetes Insipidus C0268443
DISO_to_DISOclinically_similarimg Diabetes Insipidus, Nephrogenic C0162283
DISO_to_DISOmapped_toimg Drug-induced nephrogenic diabetes insipidus C1263738
DISO_to_DISOclassifiesimg Other and unspecified diseases of kidney and ureters C0156258
DISO_to_DISOclassifiesimg Other diseases of kidney and ureters C0810036
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanBBS12166379Bardet-Biedl syndrome 12
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS5129880Bardet-Biedl syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanTTC8123016tetratricopeptide repeat domain 8
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanTMEM6791147transmembrane protein 67
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanARL684100ADP-ribosylation factor-like 6
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS1079738Bardet-Biedl syndrome 10
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS755212Bardet-Biedl syndrome 7
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS927241Bardet-Biedl syndrome 9
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanTRIM3222954tripartite motif containing 32
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanMKKS8195McKusick-Kaufman syndrome
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanCANX821calnexin
img GAD, Score=1000, Pubmed Id: 11389590, UMLKSK CUI: C0162283
HumanBBS4585Bardet-Biedl syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS2583Bardet-Biedl syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanBBS1582Bardet-Biedl syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0162283
HumanAVPR2554arginine vasopressin receptor 2
img GENERIF, Score=717, Pubmed Id: 18323675, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 11868598, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 18726898, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 11754100, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 17216256, UMLKSK CUI: C0162283
img GENERIF, Score=923, Pubmed Id: 17389737, UMLKSK CUI: C0162283
img GENERIF, Score=923, Pubmed Id: 16825342, UMLKSK CUI: C0162283
HumanARHGAP4393Rho GTPase activating protein 4
img GENERIF, Score=1000, Pubmed Id: 11754100, UMLKSK CUI: C0162283
HumanAQP2359aquaporin 2 (collecting duct)
img GENERIF, Score=923, Pubmed Id: 14662748, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 11929850, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 15100362, UMLKSK CUI: C0162283
img GENERIF, Score=1000, Pubmed Id: 18519086, UMLKSK CUI: C0162283
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162283Diabetes Insipidus, Nephrogenic0self