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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 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; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
Synonyms:exact_synonym: ADH-Resistant Diabetes Insipidus;   Congenital Nephrogenic Diabetes Insipidus;   Diabetes Insipidus Renalis;   Diabetes Insipidus, Nephrogenic, Autosomal;   Diabetes Insipidus, Nephrogenic, Type 1;   Diabetes Insipidus, Nephrogenic, X-Linked;   NDI;   Nephrogenic Diabetes Insipidus, Type I;   Nephrogenic Diabetes Insipidus, Type II;   XNDI;   acquired nephrogenic diabetes insipidus;   vasopressin-resistant diabetes insipidus
 narrow_synonym: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT;   DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
 primary_id: MESH:D018500
 alt_id: OMIM:125800;   OMIM:304800
 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 B ISO RGD PMID:10913167 RGD:8548674 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aqp2 aquaporin 2 ISO
IEP
DNA, protein:mutation, decreased activity::p.V71M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal recessive
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus, autosomal
ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal dominant
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by synonym: Vasopressin-resistant diabetes insipidus
DNA:mutations:multiple:multiple
DNA:insertions:intron
DNA:mutations:exon:multiple
DNA,protein:mutation, altered localization: :p.R254Q(human)
DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human)
protein:altered localization:kidney
DNA, protein:mutation,decreased secretion: :p.S216F(human)
protein:decreased expression:inner renal medulla collecting duct
DNA, protein:mutation, altered localization: :p.E258K(human)
DNA:mutation:exon:c.298G>A,c.374C>T(human)
protein:decreased activity:kidney
ClinVar
CTD
OMIM
PMID:7524315 PMID:7537761 PMID:8140421 PMID:8793791 PMID:9048343 PMID:9302264 PMID:9550615 PMID:9593782 PMID:9649557 PMID:9745427 PMID:10564236 PMID:10574954 PMID:10770218 PMID:10997928 PMID:11076974 PMID:11143979 PMID:11374071 PMID:11536078 PMID:11853799 PMID:11929850 PMID:12050236 PMID:12191971 PMID:14593099 PMID:15509592 PMID:16120822 PMID:16121255 PMID:16361827 PMID:17192724 PMID:18431594 PMID:18470935 PMID:18653713 PMID:18854434 PMID:19293543 PMID:19458121 PMID:20374732 PMID:22644838 PMID:22778181 PMID:25741868 PMID:26467025 PMID:27641679 PMID:28492532 PMID:30784238, PMID:19147915, PMID:11035038, PMID:12191971, PMID:16434568, PMID:16845277, PMID:19585583, PMID:19458121, PMID:16968783, PMID:19461158, PMID:18296634, PMID:18653713, PMID:19701945, PMID:19293543, PMID:17229678 RGD:2314285, RGD:734596, RGD:2314344, RGD:2314325, RGD:2314306, RGD:2314280, RGD:2314282, RGD:2314303, RGD:2314281, RGD:2314293, RGD:2314292, RGD:2314279, RGD:2314283, RGD:2314296 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus, X-linked
ClinVar Annotator: match by OMIM:304800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Vasopressin-resistant diabetes insipidus
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)
ClinVar
CTD
OMIM
PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 PMID:7541187 PMID:7714087 PMID:7833930 PMID:7913579 PMID:7933835 PMID:7989330 PMID:8037205 PMID:8078903 PMID:8104196 PMID:8401502 PMID:8479490 PMID:8479491 PMID:8704106 PMID:8766931 PMID:8815789 PMID:9027323 PMID:9171234 PMID:9329382 PMID:9369448 PMID:9402087 PMID:9452109 PMID:9587067 PMID:9711877 PMID:9773787 PMID:9853256 PMID:10026829 PMID:10714359 PMID:10749568 PMID:10770218 PMID:10820167 PMID:10820168 PMID:10918636 PMID:11128419 PMID:11134505 PMID:11232028 PMID:12414899 PMID:12955588 PMID:14998935 PMID:15522100 PMID:15841479 PMID:16319185 PMID:16502494 PMID:16689923 PMID:17216256 PMID:17491025 PMID:18407239 PMID:18726898 PMID:19703807 PMID:19729439 PMID:19729836 PMID:19812297 PMID:20374732 PMID:20403097 PMID:22644838 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532, PMID:17550212, PMID:17941907, PMID:18489790, PMID:17020465, PMID:19816050, PMID:17371330 RGD:2314017, RGD:2314016, RGD:2314015, RGD:2314019, RGD:2314013, RGD:2314018 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO
ISS
OMIM:125800 | OMIM:304800 MouseDO PMID:9916798 RGD:1300296 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Grn granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Rnf40 ring finger protein 40 IEP protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr 1:199,037,472...199,052,823
Ensembl chr 1:199,037,544...199,052,172
JBrowse link
G Sirt1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc4a4 solute carrier family 4 member 4 IDA protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        urinary system disease 2071
          kidney disease 1856
            nephrogenic diabetes insipidus 11
              Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  diabetes insipidus 23
                    nephrogenic diabetes insipidus 11
                      Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
paths to the root