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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:Adrenal Insufficiency
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Accession:DOID:9008622 term browser browse the term
Definition:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Synonyms:exact_synonym: Adrenal Gland Hypofunction;   Adrenal Insufficiencies;   Hypoadrenalism
 narrow_synonym: ADRENAL INSUFFICIENCY, NR5A1-RELATED
 primary_id: MESH:D000309;   RDO:0000918
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Adrenal Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar PMID:6031738, PMID:9398839, PMID:9398840, PMID:9921903, PMID:10677297, PMID:11343230, PMID:11524731, PMID:11524733, PMID:11600535, PMID:12050215, PMID:12503856, PMID:12843157, PMID:14582926, PMID:14974083, PMID:16313305, PMID:16684821, PMID:16784312, PMID:16965330, PMID:17118990, PMID:17289071, PMID:17539912, PMID:18248641, PMID:18264745, PMID:18274776, PMID:18320920, PMID:18426830, PMID:18616706, PMID:18682433, PMID:18708298, PMID:19037923, PMID:19246027, PMID:19807739, PMID:20407228, PMID:20718774, PMID:22024611, PMID:25741868, PMID:26084028, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Pla2g2a phospholipase A2 group IIA IEP associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland RGD PMID:21161352 RGD:6482719 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X RGD PMID:7954808 RGD:1624136 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link
Addison's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by synonym: Addison's disease
ClinVar Annotator: match by term: Addison's disease
ClinVar PMID:7581394, PMID:7668254, PMID:8040304, PMID:8773611, PMID:10190819, PMID:11248239, PMID:11748843, PMID:12530690, PMID:12624723, PMID:14767898, PMID:15032602, PMID:15811009, PMID:16087056, PMID:17542813, PMID:17990484, PMID:21476988, PMID:22479560, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:intron:rs8048002T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18593762, PMID:18593762 RGD:5491177 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs12917716C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18593762, PMID:18593762 RGD:5491177 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Adrenal hypoplasia ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
DNA:repeat (human)
RGD PMID:20455895, PMID:12072047 RGD:5147608, RGD:5147829 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:21816777, PMID:19858318 RGD:5147553, RGD:5147588 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Adrenocortical Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO OMIM NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300100
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:1481812, PMID:6728562, PMID:6795626, PMID:7202134, PMID:7561948, PMID:7581394, PMID:7668254, PMID:7677014, PMID:7717396, PMID:7811247, PMID:7825602, PMID:7849718, PMID:7849723, PMID:7860075, PMID:7894167, PMID:7904210, PMID:7998779, PMID:8040304, PMID:8048932, PMID:8353949, PMID:8441467, PMID:8566952, PMID:8621506, PMID:8651290, PMID:8773611, PMID:8892025, PMID:9051655, PMID:9088111, PMID:9195223, PMID:9212180, PMID:9242200, PMID:9425230, PMID:9452087, PMID:9553942, PMID:9556301, PMID:9894883, PMID:10190819, PMID:10227685, PMID:10480364, PMID:10551832, PMID:10737980, PMID:10815658, PMID:10980309, PMID:10980539, PMID:11102997, PMID:11220738, PMID:11248239, PMID:11310629, PMID:11330045, PMID:11336405, PMID:11438993, PMID:11739809, PMID:11748843, PMID:11798073, PMID:11810273, PMID:12175782, PMID:12530690, PMID:12624723, PMID:12913200, PMID:14713218, PMID:14767898, PMID:15032602, PMID:15192815, PMID:15284851, PMID:15333254, PMID:15388659, PMID:15564782, PMID:15643618, PMID:15800013, PMID:15811009, PMID:15812458, PMID:15878823, PMID:16018167, PMID:16023551, PMID:16087056, PMID:16319717, PMID:16401743, PMID:16415970, PMID:16949688, PMID:16996397, PMID:17029209, PMID:17285533, PMID:17498713, PMID:17504626, PMID:17542813, PMID:17602313, PMID:17990484, PMID:18206987, PMID:18306728, PMID:18973459, PMID:19129531, PMID:19496984, PMID:19660195, PMID:19963315, PMID:20008255, PMID:20195870, PMID:20301491, PMID:20455653, PMID:20626745, PMID:20661612, PMID:20800589, PMID:20849526, PMID:20859061, PMID:21068741, PMID:21300044, PMID:21476988, PMID:21478203, PMID:21488864, PMID:21586746, PMID:21700483, PMID:21889498, PMID:21907609, PMID:21966424, PMID:22057157, PMID:22176151, PMID:22198747, PMID:22280810, PMID:22366764, PMID:22479560, PMID:22483867, PMID:22914231, PMID:23009600, PMID:23154058, PMID:23300730, PMID:23419472, PMID:23430809, PMID:23469258, PMID:23566833, PMID:23566848, PMID:23664929, PMID:23671276, PMID:23712774, PMID:23768953, PMID:23835273, PMID:23926373, PMID:24154795, PMID:24480483, PMID:24685009, PMID:24719134, PMID:24722136, PMID:24788897, PMID:25275259, PMID:25324868, PMID:25741868, PMID:26227820, PMID:26260157, PMID:26388597, PMID:26454440, PMID:26467025, PMID:26523528, PMID:26609365, PMID:27067449, PMID:27084228, PMID:27766264, PMID:27779215, PMID:28456143, PMID:28492532, PMID:28503596, PMID:28953922, PMID:29056270, PMID:29284317, PMID:29443243, PMID:30311386, PMID:30544401, PMID:30564185, PMID:30902905, PMID:31074578, PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:148,421,627...148,422,921
Ensembl chr  X:148,421,627...148,422,921
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr 1:148,450,213...148,458,945 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777
JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
ClinVar Annotator: match by term: Congenital Adrenal Insufficiency
ClinVar Annotator: match by OMIM:613743
OMIM
ClinVar
PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:24033266, PMID:25741868, PMID:26300845, PMID:27008691, PMID:28492532 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
corticosterone methyloxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency
ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY
ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY
ClinVar Annotator: match by OMIM:610600
ClinVar Annotator: match by OMIM:203400
OMIM
ClinVar
PMID:1594605, PMID:2044581, PMID:8439335, PMID:8530633, PMID:8954040, PMID:9177280, PMID:9360501, PMID:9625333, PMID:9703385, PMID:9814506, PMID:10965212, PMID:11174838, PMID:11238478, PMID:11549691, PMID:12788848, PMID:14250395, PMID:15240589, PMID:16118341, PMID:18710464, PMID:21237269, PMID:22465514, PMID:22565077, PMID:22931312, PMID:24033266, PMID:25102047, PMID:28492532 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
glucocorticoid deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: ACTH resistance
ClinVar Annotator: match by term: Adrenal unresponsiveness to acth
ClinVar Annotator: match by OMIM:202200
OMIM
ClinVar
PMID:7829641, PMID:8094489, PMID:8227361, PMID:8636348, PMID:10443676, PMID:12213892, PMID:17128565, PMID:17223989, PMID:18407210, PMID:18492762, PMID:18504396, PMID:18840636, PMID:19170705, PMID:19558534, PMID:21932602, PMID:25741868, PMID:26650942, PMID:28492532 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ACTH resistance ClinVar PMID:15654338, PMID:24033266 NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
Glucocorticoid Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2
ClinVar Annotator: match by OMIM:607398
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15654338, PMID:16868047, PMID:24033266, PMID:28492532 NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 ClinVar PMID:28492532 NCBI chr11:30,916,740...30,977,423
Ensembl chr11:30,916,730...30,977,483
JBrowse link
Glucocorticoid Deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
ClinVar Annotator: match by OMIM:614736
OMIM
ClinVar
PMID:22634753, PMID:23474776, PMID:25741868, PMID:26070314, PMID:26548497, PMID:27129361 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
Glucocorticoid Deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 5 OMIM
ClinVar
PMID:21247928, PMID:24601690, PMID:25741868, PMID:26300845, PMID:28492532 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
Hypoaldosteronism 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 CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) RGD PMID:1594605 RGD:1600824 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238478 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Rhcg Rh family, C glycoprotein treatment IEP RGD PMID:21415155 RGD:9850160 NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMAGE Syndrome
ClinVar Annotator: match by OMIM:614732
OMIM
CTD
ClinVar
PMID:15769992, PMID:22634751, PMID:24098681, PMID:25057881, PMID:25614875, PMID:28492532, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
MIRAGE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Mirage syndrome ClinVar
OMIM
PMID:25741868, PMID:27182967 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by OMIM:264470
OMIM
ClinVar
PMID:2894756, PMID:8040306, PMID:8279468, PMID:11815777, PMID:17458872, PMID:18536048, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26965209, PMID:28492532, PMID:32169171 NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Proopiomelanocortin deficiency
ClinVar Annotator: match by OMIM:609734
OMIM
ClinVar
PMID:9620771, PMID:12165561, PMID:14557433, PMID:16459314, PMID:18091355, PMID:18697863, PMID:18765507, PMID:19221669, PMID:20349035, PMID:23293326, PMID:25741868, PMID:28492532 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome
ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome
ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231550
ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome
OMIM
ClinVar
CTD
PMID:1537368, PMID:6243664, PMID:11062474, PMID:11159947, PMID:11701718, PMID:11914417, PMID:12429595, PMID:12752575, PMID:15173230, PMID:15666842, PMID:16098009, PMID:16609705, PMID:17853339, PMID:18261130, PMID:18414213, PMID:18615337, PMID:18628786, PMID:22538409, PMID:23315990, PMID:25741868, PMID:26595337, PMID:26622478, PMID:27133709, PMID:27414811, PMID:28492532, PMID:30311386 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar NCBI chr 7:143,929,662...143,936,865
Ensembl chr 7:143,929,662...143,936,864
JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
G Mageb1 melanoma antigen family B, 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,892,482...54,931,144 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,804,987...54,806,956 JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,843,202...54,844,197
Ensembl chr  X:54,843,096...54,844,197
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar
OMIM
PMID:6891556, PMID:7990953, PMID:7990958, PMID:8636263, PMID:8855822, PMID:9003500, PMID:9195207, PMID:9360549, PMID:9415399, PMID:10361383, PMID:10522996, PMID:10599709, PMID:10675358, PMID:10848616, PMID:11113848, PMID:11549627, PMID:11788621, PMID:12519885, PMID:12629128, PMID:17504899, PMID:18339285, PMID:20573681, PMID:21408189, PMID:21739173, PMID:23384712, PMID:23512386, PMID:25741868, PMID:28492532, PMID:28546232 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,035,958...54,090,282
Ensembl chr  X:54,062,935...54,086,339
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,390,733...54,409,466
Ensembl chr  X:54,390,733...54,409,466
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        adrenal gland disease 175
          Adrenal Insufficiency 98
            Addison's disease + 9
            Adrenocortical Insufficiency 1
            Adrenomyodystrophy 0
            Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 1
            Hypoaldosteronism + 3
            IMAGe syndrome 1
            Proopiomelanocortin Deficiency 1
            Waterhouse-Friderichsen syndrome + 0
            X-linked adrenal hypoplasia congenita 11
            adrenocorticotropic hormone deficiency 2
            adrenoleukodystrophy + 51
            congenital adrenal insufficiency 1
            glucocorticoid deficiency 1 3
            triple-A syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.