Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 Bax BCL2 associated X, apoptosis regulator IEP associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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 chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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 More... NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
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 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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 18-monooxygenase deficiency
ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency
ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency
ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency
ClinVar Annotator: match by OMIM:610600
ClinVar Annotator: match by OMIM:203400
OMIM
ClinVar
PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More... NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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 More... NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ACTH resistance ClinVar PMID:15654338 PMID:24033266 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
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 null
ClinVar Annotator: match by OMIM:607398
OMIM
ClinVar
PMID:15654338 PMID:16868047 PMID:24033266 PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 ClinVar PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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 More... NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
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 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238478 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Rhcg Rh family, C glycoprotein treatment IEP RGD PMID:21415155 RGD:9850160 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
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 ClinVar Annotator: match by term: IMAGE Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614732
OMIM
ClinVar
CTD
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More... NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
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:16199547 More... NCBI chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341 JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,238...157,662,035 JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar
PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,612,921...157,615,293
Ensembl chr 4:157,613,401...157,615,284
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,619,643...157,634,711
Ensembl chr 4:157,619,643...157,634,711
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969
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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
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:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772
JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:50,915,884...50,921,863 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:50,827,538...50,833,272
Ensembl chr  X:50,827,563...50,833,151
JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:50,865,484...50,866,479
Ensembl chr  X:50,865,484...50,866,479
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 More... NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
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:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
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:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        adrenal gland disease 214
          Adrenal Insufficiency 138
            Addison's disease + 8
            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 10
            adrenocorticotropic hormone deficiency 2
            adrenoleukodystrophy + 94
            congenital adrenal insufficiency 1
            glucocorticoid deficiency 1 3
            triple-A syndrome 2
paths to the root