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autosomal dominant pseudohypoaldosteronism type 1 - Ontology Report - Rat Genome Database

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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:autosomal dominant pseudohypoaldosteronism type 1
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Accession:DOID:0060855 term browser browse the term
Definition:A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: PHA1A;   autosomal dominant PHA 1;   pseudohypoaldosteronism, type I, autosomal dominant;   pseudohypoaldosteronism, type I, dominant
 broad_synonym: NR3C2-RELATED CONDITION
 primary_id: MIM:177735
 alt_id: RDO:9003076
 xref: GARD:9145

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autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624823:767,347...854,065
Ensembl chrNW_004624823:766,780...852,727 		JBrowse link
G G CUL3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr10:110,425,895...110,541,431
Ensembl chr10:110,425,076...110,541,538 		JBrowse link
G P CUL3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr15:126,191,605...126,287,148
Ensembl chr15:126,189,851...126,287,005 		JBrowse link
G S Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936569:6,067,230...6,131,467
Ensembl chrNW_004936569:6,065,367...6,132,316 		JBrowse link
G D CUL3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr25:37,730,903...37,819,851
Ensembl chr25:37,733,229...37,800,886 		JBrowse link
G B CUL3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:111,714,533...111,827,080
Ensembl chr2B:230,289,195...230,378,991 		JBrowse link
G C Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955453:9,546,554...9,629,976
Ensembl chrNW_004955453:9,564,522...9,629,976 		JBrowse link
G R Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:89,040,987...89,118,775
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G M Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,242,640...80,318,426
Ensembl chr 1:80,242,640...80,318,197 		JBrowse link
G H CUL3 cullin 3 IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397 		JBrowse link
G N Dclk2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chrNW_004624858:1,638,145...1,809,605
Ensembl chrNW_004624858:1,637,986...1,788,172 		JBrowse link
G G DCLK2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 7:96,526,698...96,706,958
Ensembl chr 7:96,527,073...96,707,347 		JBrowse link
G P DCLK2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 8:78,680,241...78,854,909
Ensembl chr 8:78,681,415...78,854,848 		JBrowse link
G S Dclk2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chrNW_004936689:272,136...428,145
Ensembl chrNW_004936689:272,130...426,078 		JBrowse link
G D DCLK2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr15:48,119,227...48,365,807
Ensembl chr15:48,119,001...48,365,732 		JBrowse link
G B DCLK2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 4:142,412,945...142,590,129
Ensembl chr 4:154,064,018...154,239,156 		JBrowse link
G C Dclk2 doublecortin like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chrNW_004955471:4,903,077...5,044,426
Ensembl chrNW_004955471:4,903,077...5,044,788 		JBrowse link
G R Dclk2 doublecortin-like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 2:174,506,660...174,636,353
Ensembl chr 2:172,208,706...172,338,250 		JBrowse link
G M Dclk2 doublecortin-like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 3:86,693,457...86,828,292
Ensembl chr 3:86,693,458...86,828,159 		JBrowse link
G H DCLK2 doublecortin like kinase 2 IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 4:150,078,445...150,257,438
Ensembl chr 4:150,078,445...150,257,438 		JBrowse link
G N Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:9,299,217...9,413,390
Ensembl chrNW_004624733:9,299,229...9,413,469 		JBrowse link
G G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr23:40,301,406...40,419,927
Ensembl chr23:40,301,414...40,417,839 		JBrowse link
G P KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:139,632,868...139,890,079
Ensembl chr 2:139,632,869...139,920,497 		JBrowse link
G S Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936597:4,592,654...4,696,348
Ensembl chrNW_004936597:4,592,621...4,696,377 		JBrowse link
G D KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:25,329,922...25,505,281
Ensembl chr11:25,334,241...25,443,494 		JBrowse link
G B KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:133,005,563...133,276,087
Ensembl chr 5:139,147,793...139,248,919 		JBrowse link
G C Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:32,596,497...32,719,967
Ensembl chrNW_004955408:32,596,497...32,721,059 		JBrowse link
G R Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:6,528,114...6,651,338
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G M Klhl3 kelch-like 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:58,148,040...58,271,288
Ensembl chr13:58,148,042...58,261,406 		JBrowse link
G H KLHL3 kelch like family member 3 IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant		 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089 		JBrowse link
G H LOC129993215 ATAC-STARR-seq lymphoblastoid silent region 15744 IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 4:148,442,322...148,442,611 JBrowse link
G G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chr 7:94,574,010...94,935,348 JBrowse link
G P NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G S Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471 		JBrowse link
G D NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G B NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298 		JBrowse link
G C Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant OMIM
ClinVar		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520 		JBrowse link
G R Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO
ISS		 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
OMIM:177735		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... RGD:1600930 NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G M Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
OMIM:177735		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... RGD:1600930 NCBI chr 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641 		JBrowse link
G H NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
OMIM:177735		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... RGD:1600930 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G N Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chrNW_004624741:24,951,985...24,980,049
Ensembl chrNW_004624741:24,952,793...24,974,554 		JBrowse link
G G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 2:5,462,910...5,489,416
Ensembl chr 2:5,460,383...5,488,693 		JBrowse link
G P STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr17:58,839,982...58,873,396
Ensembl chr17:58,840,006...58,873,241 		JBrowse link
G S Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chrNW_004936530:1,231,033...1,247,961
Ensembl chrNW_004936530:1,231,252...1,247,987
Ensembl chrNW_004936530:1,231,252...1,247,987 		JBrowse link
G D STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr24:43,425,719...43,451,828
Ensembl chr24:43,426,470...43,449,077 		JBrowse link
G B STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 Ensembl chr20:56,271,484...56,299,929 JBrowse link
G C Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chrNW_004955445:884,372...910,010
Ensembl chrNW_004955445:887,240...909,151 		JBrowse link
G R Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 3:183,271,417...183,300,746
Ensembl chr 3:162,853,782...162,882,489 		JBrowse link
G M Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 2:173,918,052...173,941,564
Ensembl chr 2:173,918,101...173,941,564 		JBrowse link
G H STX16 syntaxin 16 IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
G H STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr20:58,651,253...58,715,844
Ensembl chr20:58,651,434...58,715,410 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          renal tubular transport disease 1120
            pseudohypoaldosteronism 146
              autosomal dominant pseudohypoaldosteronism type 1 51
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                autosomal dominant pseudohypoaldosteronism type 1 51
paths to the root