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
Accession: DOID:9409
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 .
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all