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
Accession: DOID:12387
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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Akr1b1
aldo-keto reductase family 1 member B1
ISO
RGD
PMID:10913167
RGD:8548674
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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Aqp2
aquaporin 2
ISO IEP ISS
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 MouseDO ClinVar RGD
PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 PMID:9550615 PMID:9593782 PMID:10228154 PMID:10435672 PMID:10564236 PMID:10574954 PMID:10770218 PMID:10997928 PMID:11076974 PMID:11143979 PMID:11374071 PMID:14593099 PMID:14599123 PMID:15509592 PMID:16120822 PMID:16121255 PMID:16361827 PMID:16581908 PMID:17192724 PMID:18431594 PMID:18470935 PMID:18473191 PMID:18653713 PMID:18854434 PMID:19458121 PMID:20374732 PMID:20403973 PMID:22644838 PMID:23150186 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27156763 PMID:27641679 PMID:28492532 PMID:19147915 PMID:17229678 PMID:19293543 PMID:19701945 PMID:18653713 PMID:18296634 PMID:19461158 PMID:16968783 PMID:19458121 PMID:19585583 PMID:16845277 PMID:16434568 PMID:12191971 PMID:11035038 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 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
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Aqp3
aquaporin 3 (Gill blood group)
ISS
OMIM:125800 | OMIM:304800
MouseDO
NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720
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Avpr2
arginine vasopressin receptor 2
ISO ISS
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 MouseDO ClinVar RGD
PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 PMID:7920187 PMID:7933835 PMID:7984150 PMID:8037205 PMID:8104196 PMID:8401502 PMID:8704106 PMID:8766931 PMID:8815789 PMID:8999963 PMID:9402087 PMID:9452109 PMID:9711877 PMID:9773787 PMID:10026829 PMID:10714359 PMID:10749568 PMID:10770218 PMID:10820168 PMID:10918636 PMID:11095010 PMID:11128419 PMID:11134505 PMID:11232028 PMID:11754100 PMID:11916004 PMID:11920339 PMID:12414899 PMID:14709855 PMID:14998935 PMID:15166253 PMID:15522100 PMID:15841479 PMID:15872203 PMID:16319185 PMID:16502494 PMID:16580609 PMID:16689923 PMID:16825342 PMID:16843086 PMID:16845277 PMID:17216256 PMID:17491025 PMID:18407239 PMID:18726898 PMID:19179480 PMID:19703807 PMID:19729439 PMID:19729836 PMID:19812297 PMID:20374732 PMID:25741868 PMID:26467025 PMID:27355191 PMID:28492532 PMID:29398133 PMID:29546600 PMID:33996673 PMID:34101133 PMID:17550212 PMID:17941907 PMID:18489790 PMID:17020465 PMID:19816050 PMID:17371330 More...
RGD:2314017 , RGD:2314016 , RGD:2314015 , RGD:2314019 , RGD:2314013 , RGD:2314018
NCBI chr X:156,785,009...156,787,477
Ensembl chr X:151,633,522...151,635,989
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Clcnka
chloride voltage-gated channel Ka
ISO ISS
OMIM:125800 | OMIM:304800
MouseDO RGD
PMID:9916798
RGD:1300296
NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148
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Grn
granulin precursor
ISS
OMIM:125800 | OMIM:304800
MouseDO
NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25006961
NCBI chr10:93,388,991...93,787,617
Ensembl chr10:92,894,012...93,288,012
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Ptger4
prostaglandin E receptor 4
treatment
ISO
RGD
PMID:19729836
RGD:10003043
NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670
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Rnf40
ring finger protein 40
IEP
protein:increased expression:kidney (rat)
RGD
PMID:21734099
RGD:9587431
NCBI chr 1:191,632,988...191,649,231
Ensembl chr 1:182,202,600...182,217,241
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Sirt1
sirtuin 1
ISS
OMIM:125800 | OMIM:304800
MouseDO
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
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Slc4a4
solute carrier family 4 member 4
IDA
protein:increased expression:kidney cortex
RGD
PMID:12944321
RGD:1600034
NCBI chr14:19,125,394...19,577,379
Ensembl chr14:18,845,159...19,272,883
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Stim1
stromal interaction molecule 1
IAGP
DNA:missense mutation:cds:premature stop codon
RGD
PMID:26574044
RGD:150429659
NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363
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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 PMID:9048343 PMID:9302264 PMID:9550615 PMID:9593782 PMID:9649557 PMID:9745427 PMID:10228154 PMID:10435672 PMID:10564236 PMID:10574954 PMID:10770218 PMID:10997928 PMID:11035038 PMID:11076974 PMID:11143979 PMID:11374071 PMID:11536078 PMID:11853799 PMID:11929850 PMID:12050236 PMID:12191971 PMID:14593099 PMID:14599123 PMID:15509592 PMID:16120822 PMID:16199547 PMID:16581908 PMID:17192724 PMID:18431594 PMID:18854434 PMID:19147915 PMID:19293543 PMID:19458121 PMID:20403973 PMID:20711567 PMID:22498392 PMID:22644838 PMID:22778181 PMID:23950570 PMID:24033266 PMID:25741868 PMID:26069764 PMID:26442203 PMID:26467025 PMID:27151922 PMID:27156763 PMID:27641679 PMID:28492532 PMID:30773290 PMID:30784238 PMID:30976394 PMID:33532864 PMID:34120413 PMID:37078890 More...
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
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Aqp2
aquaporin 2
ISO
ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
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Avpr2
arginine vasopressin receptor 2
ISO ISS
ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked OMIM:304800
OMIM ClinVar MouseDO
PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 PMID:7714087 PMID:7833930 PMID:7913579 PMID:7920187 PMID:7984150 PMID:7987330 PMID:7989330 PMID:8037205 PMID:8078903 PMID:8104196 PMID:8267567 PMID:8401502 PMID:8479490 PMID:8479491 PMID:8704106 PMID:8766931 PMID:8999963 PMID:9027323 PMID:9171234 PMID:9329382 PMID:9369448 PMID:9402087 PMID:9452109 PMID:9587067 PMID:9711877 PMID:9853256 PMID:10026829 PMID:10526945 PMID:10644689 PMID:10770218 PMID:10820167 PMID:10820168 PMID:11095010 PMID:11128419 PMID:11134505 PMID:11232028 PMID:11754100 PMID:11916004 PMID:11920339 PMID:12414899 PMID:12955588 PMID:14709855 PMID:15166253 PMID:15522100 PMID:15841479 PMID:15872203 PMID:16319185 PMID:16580609 PMID:16825342 PMID:16843086 PMID:16845277 PMID:17216256 PMID:17491025 PMID:18726898 PMID:19179480 PMID:19587238 PMID:19812297 PMID:20403097 PMID:22144672 PMID:22644838 PMID:23762448 PMID:24033266 PMID:25324589 PMID:25741868 PMID:26467025 PMID:27355191 PMID:27601473 PMID:27884173 PMID:28492532 PMID:29398133 PMID:29546600 PMID:29594432 PMID:30073107 PMID:30976394 PMID:32073219 PMID:32903920 PMID:32939031 PMID:33009446 PMID:33532864 PMID:33996673 PMID:34101133 More...
NCBI chr X:156,785,009...156,787,477
Ensembl chr X:151,633,522...151,635,989
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