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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nephrogenic diabetes insipidus
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Accession:DOID:12387 term browser browse the term
Definition:A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)
Synonyms:exact_synonym: ADH-Resistant Diabetes Insipidus;   Congenital Nephrogenic Diabetes Insipidus;   Diabetes Insipidus Renalis;   NDI;   acquired nephrogenic diabetes insipidus;   vasopressin-resistant diabetes insipidus
 narrow_synonym: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT;   DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
 primary_id: MESH:D018500
 xref: GARD:7178;   ICD10CM:N25.1;   ICD9CM:588.1;   NCI:C84919;   ORDO:223
For additional species annotation, visit the Alliance of Genome Resources.



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nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO RGD PMID:10913167 RGD:8548674 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Aqp2 aquaporin 2 ISO
IEP
DNA, protein:mutation, decreased activity::p.V71M (human)
protein:decreased activity:kidney
DNA:mutation:exon:c.298G>A,c.374C>T(human)
DNA, protein:mutation, altered localization: :p.E258K(human)
protein:decreased expression:inner renal medulla collecting duct
DNA, protein:mutation,decreased secretion: :p.S216F(human)
protein:altered localization:kidney
DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human)
DNA,protein:mutation, altered localization: :p.R254Q(human)
DNA:mutations:exon:multiple
DNA:insertions:intron
DNA:mutations:multiple:multiple
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD
ClinVar
RGD
PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 More... RGD:2314285, RGD:2314296, RGD:2314283, RGD:2314279, RGD:2314292, RGD:2314293, RGD:2314281, RGD:2314303, RGD:2314282, RGD:2314280, RGD:2314306, RGD:2314325, RGD:2314344, RGD:734596 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
DNA:mutation:exon:1454C>A (p.S329R) (human)
DNA:deletion (human)
DNA:mutations: :multiple (human)
DNA:missense mutation: :c.262G>A (p.V88M) (human)
DNA:missense mutations: :multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD
ClinVar
RGD
PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 More... RGD:2314017, RGD:2314016, RGD:2314015, RGD:2314019, RGD:2314013, RGD:2314018 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO
ISS
OMIM:125800 | OMIM:304800 MouseDO
RGD
PMID:9916798 RGD:1300296 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Grn granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Rnf40 ring finger protein 40 IEP protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241
JBrowse link
G Sirt1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc4a4 solute carrier family 4 member 4 IDA protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Stim1 stromal interaction molecule 1 IAGP DNA:missense mutation:cds:premature stop codon RGD PMID:26574044 RGD:150429659 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
nephrogenic diabetes insipidus type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal OMIM
ClinVar
PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 More... NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked OMIM
ClinVar
PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Urogenital Diseases 4700
        urinary system disease 2386
          kidney disease 2158
            nephrogenic diabetes insipidus 13
              Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
              X-linked nephrogenic diabetes insipidus 1
              nephrogenic diabetes insipidus type 2 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            thalamic disease 310
              hypothalamic disease 310
                pituitary gland disease 173
                  diabetes insipidus 25
                    nephrogenic diabetes insipidus 13
                      Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
                      X-linked nephrogenic diabetes insipidus 1
                      nephrogenic diabetes insipidus type 2 1
paths to the root