Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of adrenal physiology
go back to main search page
Accession:HP:0011733 term browser browse the term
Definition:A functional abnormality of the adrenal glands.
Synonyms:alt_id: HP:0002855
 xref: UMLS:C4023212


show annotations for term's descendants           Sort by:
Adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO MIM:231550 ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AIRE autoimmune regulator IAGP HPO MIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO MIM:613743 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GK glycerol kinase IAGP HPO MIM:307030 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO MIM:615510 ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO MIM:201810 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO MIM:262700 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO MIM:278000 ORPHA:75233 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:176270 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP HPO MIM:609981 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO MIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO MIM:176270
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP HPO MIM:619025 NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO MIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP HPO MIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO MIM:300200 ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:202370 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO MIM:614863 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G POMC proopiomelanocortin IAGP HPO MIM:609734 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO MIM:262600 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO MIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO MIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO MIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO MIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO MIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G TBX19 T-box transcription factor 19 IAGP ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Adrenocorticotropin deficient adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G TBX19 T-box transcription factor 19 IAGP HPO ORPHA:199296 NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426 		JBrowse link
Adrenocorticotropin receptor defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO MIM:231550 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
Central adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO MIM:615577 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G POMC proopiomelanocortin IAGP HPO ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO MIM:612079 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
Elevated circulating 21-deoxycortisol concentration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP HPO MIM:201910 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644 		JBrowse link
Elevated serum 11-deoxycortisol term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO MIM:202010 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO ORPHA:556030 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1501 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Increased circulating cortisol level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator IAGP HPO ORPHA:3453 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO MIM:615954 ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Cushing syndrome ClinVar
HPO		 PMID:2109828 PMID:11784876 PMID:12970262 PMID:21525160 PMID:21713996 More... MIM:174800 MIM:219080 ORPHA:189427 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A IAGP HPO MIM:614674 NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:79644 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:189427 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO MIM:616521 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO MIM:615962 ORPHA:786 ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO MIM:610475 ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDE8B phosphodiesterase 8B IAGP HPO MIM:614190 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:615830 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:610489 ORPHA:1359 ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:171400 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1501 ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Primary adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Addison's disease ClinVar
HPO		 PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... MIM:300100 ORPHA:139396 ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AIRE autoimmune regulator IAGP HPO MIM:240300 ORPHA:3453 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:repeat RGD PMID:12072047 RGD:5147829 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP HPO MIM:617872 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO MIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:44 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
Primary hypercortisolism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:219080 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO MIM:610475 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:615830 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:610489 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Pseudohypoaldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUL3 cullin 3 IAGP HPO MIM:614496 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397 		JBrowse link
G KLHL3 kelch like family member 3 IAGP HPO MIM:614495 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism ClinVar
HPO		 MIM:177735 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism ClinVar
HPO		 PMID:25741868 MIM:264350 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:614492 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
G WNK4 WNK lysine deficient protein kinase 4 IAGP HPO MIM:614491 NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the endocrine system 4632
        Abnormality of the adrenal glands 268
          Abnormality of adrenal physiology 116
            Adrenal insufficiency + 84
            Adrenal overactivity + 32
            Pseudohypoaldosteronism 6
paths to the root