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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 Aqp2 aquaporin 2 IAGP protein:decreased expression:total kidney membrane fraction (rat) RGD PMID:10919858 RGD:2314654 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165 		JBrowse link
G Avp arginine vasopressin ISO
IAGP		 CTD Direct Evidence: marker/mechanism CTD PMID:6945054 PMID:15169711, PMID:8945633, PMID:10919858 RGD:734624, RGD:2314654 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460 		JBrowse link
G Avpdi arginine vasopressin; diabetes insipidus mutant IAGP RGD PMID:10919858 RGD:2314654
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: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296		 OMIM
ClinVar		 PMID:10679252 PMID:11295831 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:28492532 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: 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: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: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: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: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: DIDMOAD syndrome
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: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:18544103 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:28492532 PMID:29529044 PMID:30014265, 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:18544103 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 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 16091
    disease of anatomical entity 15341
      endocrine system disease 5000
        pituitary gland disease 170
          diabetes insipidus 23
            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 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  diabetes insipidus 23
                    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