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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 kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. (DO)
Synonyms:xref: ICD10CM:E23.2;   ICD9CM:253.5;   MESH:D003919;   MONDO:0004782;   NCI:C43263


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 ISO protein:decreased expression:total kidney membrane fraction (rat) RGD PMID:10919858 RGD:2314654 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AVP arginine vasopressin treatment IAGP
ISO
EXP		 ClinVar Annotator: match by term: Diabetes insipidus
DNA:deletion:cds:exon B (rat)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:6945054 PMID:15169711 PMID:25741868 PMID:28008190 PMID:8945633 More... RGD:734624, RGD:150429658, RGD:150429657, RGD:2314661, RGD:632128, RGD:2314654 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:serum: RGD PMID:9661594 RGD:7207422 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G GH1 growth hormone 1 IEP protein:decreased expression:serum RGD PMID:6777392 RGD:2315659 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G HAS2 hyaluronan synthase 2 ISO RGD PMID:19496322 RGD:9588637 NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:6258694 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 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 term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G AQP2 aquaporin 2 IDA
IAGP
ISS
EXP
ISO
IMP		 DNA, protein:mutation, decreased activity::p.V71M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:insertions:intron
DNA:mutations:multiple:multiple
DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human)
DNA:mutations:exon:multiple
DNA, protein:mutation, altered localization: :p.E258K(human)
DNA,protein:mutation, altered localization: :p.R254Q(human)
DNA, protein:mutation, decreased secretion: :p.S216F(human)
DNA:mutation:exon:c.298G>A,c.374C>T(human)
protein:altered localization:kidney
protein:decreased activity:kidney
protein:decreased expression:inner renal medulla collecting duct		 ClinVar
MouseDO
CTD
RGD		 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 More... RGD:2314285, RGD:734596, RGD:2314325, RGD:2314344, RGD:2314282, RGD:2314306, RGD:2314279, RGD:2314280, RGD:2314281, RGD:2314283, RGD:2314292, RGD:2314303, RGD:2314296, RGD:2314293 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Nephrogenic diabetes insipidus ClinVar PMID:7524315 PMID:7537761 PMID:9048343 PMID:9550615 PMID:9593782 More... NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP
ISS
EXP		 DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:1454C>A (p.S329R) (human)
DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
DNA:missense mutation: :c.262G>A (p.V88M) (human)
DNA:missense mutations: :multiple (human)
DNA:deletion (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 More... RGD:2314019, RGD:2314016, RGD:2314017, RGD:2314013, RGD:2314018, RGD:2314015 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO
ISS		 OMIM:125800 | OMIM:304800 MouseDO
RGD		 PMID:9916798 RGD:1300296 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G GRN granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G PRKCA protein kinase C alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G RNF40 ring finger protein 40 ISO protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr16:30,761,612...30,776,307
Ensembl chr16:30,761,745...30,776,307 		JBrowse link
G SIRT1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO DNA:missense mutation:cds:premature stop codon RGD PMID:26574044 RGD:150429659 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: ADH resistant diabetes insipidus ClinVar PMID:1467311 PMID:2750177 PMID:9242456 PMID:9446663 PMID:9536098 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G UOX urate oxidase (pseudogene) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 1:84,364,958...84,384,801
Ensembl chr 1:84,365,428...84,397,831 		JBrowse link
nephrogenic diabetes insipidus type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal ClinVar
OMIM		 PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 More... NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal ClinVar PMID:7512890 PMID:7524315 PMID:7537761 PMID:9024277 PMID:9048343 More... NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		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 IAGP
ISS
EXP
ISO		 DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus
OMIM:125700
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 More... RGD:2301918, RGD:2301917 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		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 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... RGD:1599813 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: Wolfram syndrome 1 ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr 4:6,269,828...6,269,937 JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
ISS		 ClinVar Annotator: match by term: Wolfram syndrome 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300		 OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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
IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr17:38,730,341...38,735,605
Ensembl chr17:38,730,341...38,735,605 		JBrowse link
G LOC129992891 ATAC-STARR-seq lymphoblastoid silent region 15602 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr 4:102,868,813...102,869,102 JBrowse link
G LOC129992892 ATAC-STARR-seq lymphoblastoid silent region 15603 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:25371195 PMID:25741868 PMID:28492532 More... NCBI chr 4:102,869,133...102,869,252 JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719 		JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP
ISS		 ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
OMIM:304800		 ClinVar
MouseDO
OMIM		 PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:1467311 PMID:2750177 PMID:9242456 PMID:9446663 PMID:9536098 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91157
      endocrine system disease 12675
        pituitary gland disease 290
          diabetes insipidus 30
            Schofer Beetz Bohl Syndrome 0
            Wolfram syndrome + 10
            central diabetes insipidus + 1
            dipsogenic diabetes insipidus 0
            gestational diabetes insipidus 0
            nephrogenic diabetes insipidus + 15
Path 2
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91157
      nervous system disease 53016
        central nervous system disease 38420
          brain disease 36124
            hypothalamic disease 564
              pituitary gland disease 290
                diabetes insipidus 30
                  Schofer Beetz Bohl Syndrome 0
                  Wolfram syndrome + 10
                  central diabetes insipidus + 1
                  dipsogenic diabetes insipidus 0
                  gestational diabetes insipidus 0
                  nephrogenic diabetes insipidus + 15
paths to the root