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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:diabetes insipidus
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Accession:DOID:9409 term browser browse the term
Definition:A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.
Synonyms:primary_id: MESH:D003919;   RDO:0001331
 xref: ICD10CM:E23.2;   ICD9CM:253.5;   NCI:C43263
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6945054, PMID:15169711, PMID:8945633 RGD:734624 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum: RGD PMID:9661594 RGD:7207422 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Gh1 growth hormone 1 ISO protein:decreased expression:serum RGD PMID:6777392 RGD:2315659 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Has2 hyaluronan synthase 2 IEP RGD PMID:19496322 RGD:9588637 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6258694 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
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: Diabetes insipidus, nephrogenic, autosomal recessive
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
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:missense mutations: :multiple (human)
DNA:missense mutation: :c.262G>A (p.V88M) (human)
DNA:mutations: :multiple (human)
DNA:deletion (human)
DNA:mutation:exon:1454C>A (p.S329R) (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:10477148, 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:15129813, PMID:15522100, PMID:15841479, PMID:15872203, PMID:16319185, PMID:16502494, PMID:16689923, PMID:17216256, PMID:17491025, PMID:18407239, PMID:18584216, PMID:18726898, PMID:19703807, PMID:19729439, PMID:19729836, PMID:19812297, PMID:20374732, PMID:20403097, PMID:20459358, PMID:22386940, PMID:22427315, PMID:22644838, PMID:24033266, PMID:25741868, PMID:26077742, PMID:26131744, PMID:26467025, PMID:28492532, PMID:17550212, PMID:17371330, PMID:19816050, PMID:17020465, PMID:18489790, PMID:17941907 RGD:2314017, RGD:2314018, RGD:2314013, RGD:2314019, RGD:2314015, RGD:2314016 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
neurohypophyseal diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO
IEP
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:125700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
ClinVar
CTD
OMIM
PMID:1740104, PMID:1840604, PMID:3390991, PMID:6132221, PMID:7057320, PMID:7714110, PMID:8103767, PMID:8370681, PMID:8370682, PMID:8514868, PMID:8550751, PMID:8626836, PMID:8945633, PMID:8989232, PMID:9360520, PMID:9467595, PMID:9580132, PMID:9814475, PMID:10369876, PMID:10443701, PMID:10487710, PMID:11017955, PMID:11443218, PMID:11836335, PMID:12107248, PMID:14660745, PMID:14673472, PMID:15070970, PMID:15356057, PMID:18494865, PMID:18578860 RGD:2301918, RGD:2301917 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532, PMID:28590052 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      endocrine system disease 4987
        pituitary gland disease 146
          diabetes insipidus 22
            Dipsogenic Diabetes Insipidus 0
            Gestational Diabetes Insipidus 0
            Schofer Beetz Bohl Syndrome 0
            Wolfram syndrome + 4
            nephrogenic diabetes insipidus + 11
            neurohypophyseal diabetes insipidus + 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            thalamic disease 191
              hypothalamic disease 191
                pituitary gland disease 146
                  diabetes insipidus 22
                    Dipsogenic Diabetes Insipidus 0
                    Gestational Diabetes Insipidus 0
                    Schofer Beetz Bohl Syndrome 0
                    Wolfram syndrome + 4
                    nephrogenic diabetes insipidus + 11
                    neurohypophyseal diabetes insipidus + 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.