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: Adrenogenital Syndrome
Accession: DOID:9002128
browse the term
Definition: Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.
Synonyms: exact_synonym: Adrenogenital Syndromes
primary_id: MESH:D047808 ; RDO:0004758
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:3263289 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID:32784047 PMID:33753170 PMID:33819959 PMID:34483146 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8185809 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:12050224 PMID:14966389 PMID:15585552 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 PMID:22579964 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31611844 PMID:31950145 PMID:32506065 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Avpr1a
arginine vasopressin receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
DNA:splice-site mutation
RGD
PMID:12161514
RGD:1599693
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD
PMID:8964882 PMID:1430088
RGD:1600799 , RGD:734864
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 PMID:9546661 PMID:11095433 PMID:11549691 PMID:12428205 PMID:12452430 PMID:15026188 PMID:15062555 PMID:15255373 PMID:16046588 PMID:16199547 PMID:16670167 PMID:17172090 PMID:17371482 PMID:17576681 PMID:19204079 PMID:19844114 PMID:20089618 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22964742 PMID:23940125 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26806323 PMID:26956189 PMID:27316665 PMID:28228528 PMID:28492532 PMID:28514642 PMID:29626607 PMID:29858860 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 PMID:35685215 PMID:36929050 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8245018 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16176874 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:18645707 PMID:19454579 PMID:19636199 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22266943 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25741868 PMID:26543560 PMID:27426448 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:31388123 PMID:31636948 PMID:33516834 PMID:33761789 PMID:33864926 PMID:34483146 PMID:34524979 PMID:34829455 PMID:35178494 PMID:35729303 PMID:35990289 PMID:2026124 More...
RGD:4889141
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp21a1
cytochrome P450, family 21, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:12930931
RGD:4889127
NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD ClinVar
PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8316254 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050213 PMID:12050224 PMID:15585552 PMID:18252794 PMID:21340167 PMID:22579964 PMID:24033266 PMID:25211449 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28207417 PMID:28492532 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31950145 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Htr4
5-hydroxytryptamine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18272904
NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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Por
cytochrome p450 oxidoreductase
ISO
DNA:missense mutations:cds:p.A287P, p.H628P (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:31888681 PMID:33864926 PMID:34009138 PMID:17505056 More...
RGD:4889128
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Ren
renin
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31505456
RGD:125097501
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Star
steroidogenic acute regulatory protein
susceptibility
ISO ISS
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar MouseDO RGD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:8634702 PMID:9326645 More...
RGD:1600070 , RGD:4145592
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12428205 PMID:12452430 PMID:12966519 PMID:14682466 PMID:15026188 PMID:15062555 PMID:15255373 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17124386 PMID:17172090 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18204274 PMID:18663314 PMID:19204079 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:20331679 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27316665 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:28962970 PMID:29626607 PMID:29858860 PMID:29909741 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 PMID:35685215 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: P450c11b1 deficiency
ClinVar
PMID:11549691
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 PMID:30620006 More...
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: CYP21 deficiency
ClinVar
PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 PMID:27426448 PMID:28492532 PMID:34483146 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 PMID:28492532 PMID:33666875 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32838438 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33604243 PMID:33710594 PMID:33715135 PMID:34540367 PMID:37011374 More...
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
OMIM CTD ClinVar
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:6976525 PMID:8027220 PMID:8245018 PMID:8287576 PMID:8345056 PMID:8396144 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9888582 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16176874 PMID:16199547 PMID:16477341 PMID:16483711 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17285537 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21550081 PMID:21822006 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:24593890 PMID:25697092 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30002216 PMID:30229581 PMID:31388123 PMID:31636948 PMID:31885295 PMID:32215889 PMID:32561571 PMID:32784047 PMID:32985417 PMID:33516834 PMID:33753170 PMID:33761789 PMID:33780934 PMID:33864926 PMID:34097983 PMID:34483146 PMID:34524979 PMID:34724156 PMID:34829455 PMID:35043964 PMID:35561789 PMID:35729303 PMID:35810428 PMID:35990289 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12858176
RGD:1625067
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:12858176
RGD:1625067
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 1
OMIM ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16356929 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO ISS
OMIM:614662 ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM MouseDO ClinVar
PMID:21325058 PMID:25741868
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Il6st
interleukin 6 cytokine family signal transducer
resistance
ISO
DNA:polymorphism:cds:p148G>R
RGD
PMID:12917504
RGD:1625428
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
mRNA, protein:increased expression:ovary follicle (rat)
RGD
PMID:20813360
RGD:8553031
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
ClinVar OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated
ClinVar
PMID:17164309 PMID:25741868 PMID:28492532
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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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
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Star
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism | ClinVar Annotator: match by term: STAR-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11502818 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26014698 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31141483 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 More...
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Wnt4
Wnt family member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
OMIM CTD ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 PMID:25741868 PMID:28492532 More...
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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