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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:primary hyperaldosteronism
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Accession:DOID:446 term browser browse the term
Definition:An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. (DO)
Synonyms:exact_synonym: Cushing syndrome;   Cushing's syndrome;   aldosteronism;   hyperaldosteronism;   primary aldosteronism
 primary_id: MESH:D006929
 xref: EFO:0009452;   ICD10CM:E24;   ICD10CM:E26;   ICD9CM:255.0;   ICD9CM:255.1;   MONDO:0001422;   NCI:C113213;   NCI:C2969;   OMIM:PS103900;   ORDO:235936
For additional species annotation, visit the Alliance of Genome Resources.



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primary hyperaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611
JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism ClinVar PMID:25741868 PMID:25907736 PMID:28492532 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:605635 | OMIM:613677
CTD
MouseDO
PMID:29403012 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
JBrowse link
G Crh corticotropin releasing hormone IAGP OMIM:605635 | OMIM:613677 MouseDO NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
JBrowse link
G Cybb cytochrome b-245, beta polypeptide ISO Protein:increased expression:heart ventricle RGD PMID:16373592 RGD:1599681 NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO DNA:gene fusion:intron:Cyp11b2 (human) RGD PMID:1731223 RGD:4891155 NCBI chr15:74,706,741...74,713,492
Ensembl chr15:74,705,974...74,713,492
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11085685 NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167
JBrowse link
G Drd2 dopamine receptor D2 IAGP OMIM:605635 | OMIM:613677 MouseDO NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 More... NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IAGP OMIM:605635 | OMIM:613677 MouseDO NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
JBrowse link
G Ren1 renin 1 structural ISO protein:increased activity:blood plasma (human) RGD PMID:15080782 RGD:126908012 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
JBrowse link
G Serpina1d serine (or cysteine) peptidase inhibitor, clade A, member 1D ISO RGD PMID:15475529 RGD:1643158 NCBI chr12:103,729,846...103,739,892
Ensembl chr12:103,729,853...103,739,851
JBrowse link
ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ClinVar PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Gnasas1 GNAS antisense RNA 1 ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ClinVar PMID:25741868 NCBI chr 2:174,123,030...174,137,229
Ensembl chr 2:174,123,024...174,137,229
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:127,836,460...127,844,272
Ensembl chr 7:127,836,514...127,844,272
JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr11:120,420,011...120,429,815
Ensembl chr11:120,421,525...120,429,812
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA | ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 1 | ClinVar Annotator: match by term: ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA | ClinVar Annotator: match by term: CUSHING SYNDROME, ADRENAL, DUE TO AIMAH
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R201S, p.R201H (human)
OMIM
ClinVar
CTD
RGD
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... RGD:11568052 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Gnasas1 GNAS antisense RNA 1 ISO ClinVar Annotator: match by term: CUSHING SYNDROME, ADRENAL, DUE TO AIMAH ClinVar PMID:25741868 NCBI chr 2:174,123,030...174,137,229
Ensembl chr 2:174,123,024...174,137,229
JBrowse link
G Prkaca protein kinase, cAMP dependent, catalytic, alpha ISO ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic ClinVar PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chr 8:84,699,607...84,723,073
Ensembl chr 8:84,699,622...84,723,072
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition OMIM
ClinVar
PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 More... NCBI chr 7:127,836,460...127,844,272
Ensembl chr 7:127,836,514...127,844,272
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome
ClinVar
RGD
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome
CTD
ClinVar
MouseDO
PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome
CTD
ClinVar
PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:19096086 More... RGD:1624188 NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a1 solute carrier family 12, member 1 ISO
IAGP
ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:601678
OMIM
ClinVar
CTD
MouseDO
PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922
JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
IAGP
ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
CTD Direct Evidence: marker/mechanism
OMIM:241200
OMIM
ClinVar
CTD
MouseDO
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO
IAGP
ClinVar Annotator: match by term: Bartter disease type 3
CTD Direct Evidence: marker/mechanism
OMIM:607364
OMIM
ClinVar
CTD
MouseDO
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO
IAGP
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A
CTD Direct Evidence: marker/mechanism
OMIM:602522
OMIM
ClinVar
CTD
MouseDO
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride channel, voltage-sensitive Ka ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B
OMIM
CTD
ClinVar
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B
OMIM
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:149,589,417...149,597,358
Ensembl chr  X:149,589,366...149,597,341
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
JBrowse link
Familial Hyperaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:32,226,002...32,255,640
Ensembl chr 9:32,226,003...32,255,646
JBrowse link
Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride channel, voltage-sensitive 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II
CTD
ClinVar
OMIM
PMID:1521363 PMID:17762171 PMID:19191339 PMID:19861545 PMID:21703448 More... NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
JBrowse link
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism type II ClinVar PMID:29403011 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318
JBrowse link
Familial Hyperaldosteronism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III
OMIM
CTD
ClinVar
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 More... NCBI chr 9:32,226,002...32,255,640
Ensembl chr 9:32,226,003...32,255,646
JBrowse link
Familial Hyperaldosteronism, Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV
CTD
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17696120 PMID:25741868 PMID:25907736 More... NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759
JBrowse link
glucocorticoid-remediable aldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
CTD
ClinVar
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 More... NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167
JBrowse link
G LOC110673973 Cyp11b2 promoter ISO ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism ClinVar NCBI chr15:74,728,086...74,728,514 JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO ClinVar Annotator: match by term: CACNA1D-related condition | ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412
JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      endocrine system disease 6290
        adrenal gland disease 281
          adrenal cortex disease 96
            adrenal gland hyperfunction 34
              primary hyperaldosteronism 28
                ACTH-independent macronodular adrenal hyperplasia + 5
                Bartter disease + 8
                Conn's syndrome 0
                Familial Hyperaldosteronism 1
                Familial Hyperaldosteronism, Type II 2
                Familial Hyperaldosteronism, Type III 1
                Familial Hyperaldosteronism, Type IV 1
                Primary Aldosteronism, Seizures, and Neurologic Abnormalities 1
                ectopic Cushing syndrome 0
                glucocorticoid-remediable aldosteronism 2
paths to the root