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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:steroid inherited metabolic disorder
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Accession:DOID:1701 term browser browse the term
Definition:Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Congenital Errors of Steroid Metabolism;   Inborn Errors of Steroid Metabolism;   Steroid Metabolic Diseases, Inborn;   Steroid Metabolism, Inborn Errors
 primary_id: MESH:D043202;   RDO:0004760
For additional species annotation, visit the Alliance of Genome Resources.


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17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency ClinVar PMID:9326943, PMID:11549685, PMID:12466376 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011, PMID:2918056, PMID:8075637, PMID:8469252, PMID:8550739, PMID:8626842, PMID:9029729, PMID:9467575, PMID:9709959, PMID:9758445, PMID:10022457, PMID:10599740, PMID:11158067, PMID:17071532, PMID:17466011, PMID:17509588, PMID:19498320, PMID:20689261, PMID:21214500, PMID:22212252, PMID:23295294, PMID:23375913, PMID:24025597, PMID:24033266, PMID:25383892, PMID:25526675, PMID:25536660, PMID:25740850, PMID:25741868, PMID:28492532 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201810
OMIM
ClinVar
CTD
PMID:295036, PMID:1363812, PMID:2755580, PMID:4539073, PMID:7633460, PMID:8316254, PMID:9719627, PMID:10486704, PMID:10599696, PMID:10770215, PMID:10843183, PMID:10973654, PMID:11196452, PMID:11287026, PMID:12050213, PMID:14966389, PMID:16648810, PMID:17689071, PMID:18252794, PMID:24033266, PMID:25526675, PMID:26288759, PMID:27796263, PMID:28492532, PMID:31611844 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:7558045, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9462761, PMID:9605588, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:31145570, PMID:10633130 RGD:12801485 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613571
OMIM
ClinVar
CTD
PMID:9360545, PMID:12116245, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16467261, PMID:16470797, PMID:16906539, PMID:17827787, PMID:18230729, PMID:18551037, PMID:18559916, PMID:18930113, PMID:19837910, PMID:20124576, PMID:20732302, PMID:20940534, PMID:21084761, PMID:21741353, PMID:21843508, PMID:22162478, PMID:22462747, PMID:24847272, PMID:25712184, PMID:25741868, PMID:27496950, PMID:28492532, PMID:28841001 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar NCBI chr12:23,989,596...23,998,257
Ensembl chr12:23,989,596...23,998,254
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545, PMID:12116245, PMID:14513299, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16470797, PMID:18559916, PMID:20124576, PMID:20940534, PMID:25741868, PMID:28492532, PMID:28841001, PMID:31837199 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9605588, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:28492532, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Apparent mineralocorticoid excess
ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:218030
OMIM
ClinVar
CTD
PMID:3860318, PMID:7593417, PMID:7593456, PMID:7608290, PMID:7670488, PMID:9398712, PMID:9683587, PMID:9683905, PMID:9707624, PMID:9851783, PMID:10536001, PMID:11085685, PMID:11238516, PMID:12788846, PMID:15126515, PMID:15134813, PMID:17314322, PMID:19075542, PMID:24123366, PMID:25526675, PMID:25593612, PMID:26467025 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
congenital adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1a arginine vasopressin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G 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
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO
ISS
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:9302260, PMID:9546661, PMID:12452430, PMID:15026188, PMID:15062555, PMID:16046588, PMID:16670167, PMID:17371482, PMID:20089618, PMID:25525159, PMID:25741868, PMID:25911436, PMID:25913739, PMID:26467025, PMID:26956189, PMID:28492532, PMID:30311386 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 ISS OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 MouseDO NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G 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
PMID:18645707, PMID:19636199, PMID:2026124 RGD:4889141 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,486,213...4,489,358
Ensembl chr20:4,486,219...4,489,550
JBrowse link
G 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:18252794 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18559916, PMID:17505056 RGD:4889128 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS
DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Lipoid CAH
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, 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:28637490, PMID:29576868, PMID:8634702, PMID:9326645 RGD:1600070, RGD:4145592 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962, PMID:3038528, PMID:24033266, PMID:25741868, PMID:26467025
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:30311386 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency 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 ClinVar Annotator: match by term: P450c11b1 deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
OMIM
ClinVar
PMID:1430088, PMID:2022736, PMID:3295546, PMID:7049883, PMID:7903314, PMID:8506298, PMID:8768848, PMID:8964882, PMID:8989319, PMID:9302260, PMID:9435454, PMID:9546661, PMID:10487675, PMID:11095433, PMID:11549691, PMID:12452430, PMID:12966519, PMID:15026188, PMID:15062555, PMID:15324322, PMID:15751602, PMID:15755848, PMID:15807871, PMID:16030166, PMID:16046588, PMID:16670167, PMID:16984984, PMID:17121536, PMID:17371482, PMID:17692261, PMID:17726333, PMID:18663314, PMID:19204079, PMID:19820005, PMID:20024693, PMID:20089618, PMID:22465514, PMID:22964742, PMID:23345044, PMID:23940125, 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:27376426, PMID:27376433, PMID:27821898, PMID:28228528, PMID:28492532, PMID:28962970, PMID:29626607, PMID:30311386 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: 21-hydroxylase deficiency
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar PMID:1496017, PMID:1864962, PMID:2303461, PMID:3038528, PMID:3267225, PMID:8034294, PMID:9215318, PMID:10496074, PMID:12220458, PMID:12384784, PMID:14513879, PMID:14715874, PMID:15858147, PMID:19773403, PMID:21134444, PMID:21329531, PMID:21532487, PMID:23166432, PMID:23269230, PMID:23359698, PMID:23769969, PMID:24033266, PMID:24077358, PMID:24904866, PMID:25227725, PMID:25525159, PMID:25538881, PMID:25741868, PMID:26206692, PMID:26209023, PMID:26467025, PMID:26804566, PMID:28392195
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V
ClinVar Annotator: match by term: 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM
ClinVar
PMID:1577471, PMID:1621662, PMID:1714904, PMID:1740503, PMID:2335573, PMID:2786493, PMID:2843762, PMID:6976525, PMID:7629254, PMID:8550762, PMID:9177409, PMID:9326943, PMID:9435441, PMID:10720067, PMID:11422109, PMID:11549685, PMID:11836339, PMID:12466376, PMID:12706306, PMID:14671162, PMID:14715826, PMID:14715827, PMID:15713706, PMID:15811924, PMID:15844475, PMID:16121340, PMID:16477341, PMID:16569739, PMID:16772352, PMID:16849412, PMID:17192295, PMID:17379008, PMID:19636199, PMID:21340157, PMID:21340163, PMID:21846181, PMID:22087567, PMID:23291414, PMID:23466679, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26543560, PMID:26770544, PMID:27959413, PMID:28008861, PMID:28492532, PMID:28870780, PMID:29595516 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by OMIM:607765 OMIM
ClinVar
PMID:3470305, PMID:11067870, PMID:12679481 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8707100, PMID:12970144, PMID:15030995, PMID:20522910, PMID:21185810, PMID:25304492, PMID:25741868, PMID:28492532 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar
PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 OMIM
ClinVar
PMID:9584266, PMID:10655068, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6
ClinVar
OMIM
PMID:25741868, PMID:27647924, PMID:27884763 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12858176 RGD:1625067 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25526675, PMID:12858176 RGD:1625067 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997, PMID:11150889, PMID:12858176, PMID:15827106, PMID:16091483, PMID:16817821, PMID:17062770, PMID:18628520, PMID:25741868 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2
ClinVar Annotator: match by OMIM:614662
OMIM
ClinVar
PMID:21325058, PMID:25741868 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:22864515, PMID:23181892, PMID:24033266, PMID:24108619, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Familial Hypercholanemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by OMIM:607748
OMIM
ClinVar
PMID:12704386, PMID:17495420, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by null
OMIM
CTD
ClinVar
PMID:12878321, PMID:25326635, PMID:25741868 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by OMIM:607748
OMIM
ClinVar
PMID:12704386, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28924228, PMID:29238877 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
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
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM
PMID:14760276, PMID:16835919, PMID:23263490, PMID:23447401, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30503519 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
JBrowse link
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated ClinVar PMID:17164309 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
Lathosterolosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by OMIM:607330
ClinVar Annotator: match by term: Lathosterolosis
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:12189593, PMID:12812989, PMID:24142275, PMID:25741868, PMID:28492532, PMID:30097991 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
Lipoid Congenital Adrenal Hyperplasia 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 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 Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201710
OMIM
ClinVar
CTD
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11502818, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, 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:28637490, PMID:29576868 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
MEND syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: MEND syndrome ClinVar
OMIM
PMID:11038443, PMID:12503101, PMID:12966533, PMID:18414213, PMID:20949533, PMID:23307567, PMID:24459067, PMID:24700572 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:24265693, PMID:25346251, PMID:25741868, PMID:28041643, PMID:28118664, PMID:28492532 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264600
OMIM
ClinVar
CTD
PMID:431680, PMID:835597, PMID:1406794, PMID:1522235, PMID:1944596, PMID:2154055, PMID:2665940, PMID:7554313, PMID:7608269, PMID:8110760, PMID:8262007, PMID:8626825, PMID:8706317, PMID:8723114, PMID:8768837, PMID:8784107, PMID:9066886, PMID:9135696, PMID:9208814, PMID:9467575, PMID:9745434, PMID:9843052, PMID:10501358, PMID:10718838, PMID:10898110, PMID:10999800, PMID:11869378, PMID:12576851, PMID:12843198, PMID:14560315, PMID:14594182, PMID:15064320, PMID:15266301, PMID:15528927, PMID:15770495, PMID:17609295, PMID:18097518, PMID:18314109, PMID:18350250, PMID:18384427, PMID:18391525, PMID:18469342, PMID:18717241, PMID:19342739, PMID:19492581, PMID:20019388, PMID:20190539, PMID:20493473, PMID:20583543, PMID:20736251, PMID:21147889, PMID:21402750, PMID:21540559, PMID:21631525, PMID:22272144, PMID:22453073, PMID:22876553, PMID:23329752, PMID:23633205, PMID:24665940, PMID:24737579, PMID:24885102, PMID:25605705, PMID:25741868, PMID:25899528, PMID:26446026, PMID:26980298, PMID:27070133, PMID:27899157, PMID:28492532, PMID:28544750, PMID:28663096, PMID:288959874 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
Smith-Lemli-Opitz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:insertion
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
ClinVar Annotator: match by term: RSH syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:270400
ClinVar
CTD
OMIM
PMID:8259166, PMID:8737829, PMID:9024557, PMID:9634533, PMID:9653161, PMID:9683613, PMID:9714007, PMID:10405455, PMID:10602371, PMID:10677299, PMID:10710236, PMID:10807690, PMID:10814720, PMID:10896306, PMID:10995508, PMID:11078571, PMID:11111101, PMID:11161831, PMID:11175299, PMID:11186897, PMID:11241839, PMID:11254748, PMID:11298379, PMID:11427181, PMID:11453964, PMID:11471166, PMID:11562938, PMID:11745994, PMID:11767235, PMID:11857552, PMID:12070263, PMID:12270273, PMID:12794707, PMID:12818773, PMID:12906934, PMID:12914579, PMID:12949967, PMID:14556255, PMID:14659996, PMID:14981719, PMID:15013448, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15877207, PMID:15896653, PMID:15952211, PMID:15954111, PMID:15979035, PMID:16044199, PMID:16181459, PMID:16207203, PMID:16392899, PMID:16446309, PMID:16497572, PMID:16761297, PMID:16814115, PMID:16906538, PMID:16983147, PMID:17237122, PMID:17441222, PMID:17497248, PMID:17965227, PMID:17994283, PMID:18006960, PMID:18076100, PMID:18249054, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20014133, PMID:20052364, PMID:20104611, PMID:20301322, PMID:20556518, PMID:20635399, PMID:20694756, PMID:21696385, PMID:21706511, PMID:21777499, PMID:21990131, PMID:22211794, PMID:22226660, PMID:22382802, PMID:22391996, PMID:22438180, PMID:22929031, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23603282, PMID:23918729, PMID:24033266, PMID:24500076, PMID:24813812, PMID:24824134, PMID:25040602, PMID:25108116, PMID:25405082, PMID:25533962, PMID:25741868, PMID:25807282, PMID:26350204, PMID:26467025, PMID:26539891, PMID:26969503, PMID:27097157, PMID:27401223, PMID:27513191, PMID:28166604, PMID:28250423, PMID:28349652, PMID:28492532, PMID:28503313, PMID:28972118, PMID:29300326, PMID:29698737, PMID:30311386, PMID:9683613, PMID:11230174 RGD:1600899, RGD:734884 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:23042628, PMID:25040602, PMID:25741868, PMID:28492532 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Pax6 paired box 6 IEP protein:altered expression:embryo, forebrain, hindbrain (rat) RGD PMID:10564872 RGD:8552380 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr18:45,378,357...45,380,797
Ensembl chr18:45,379,707...45,380,730
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308100
OMIM
ClinVar
CTD
PMID:1539590, PMID:2668275, PMID:3007328, PMID:3032454, PMID:7208152, PMID:9252398, PMID:9623797, PMID:10679952, PMID:14641695, PMID:18413370, PMID:25741868 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          steroid inherited metabolic disorder 49
            17-Hydroxysteroid Dehydrogenase Deficiency + 2
            Antley-Bixler syndrome + 3
            Familial Hypercholanemia 3
            Lathosterolosis 1
            Lyngstadaas Syndrome 0
            MEND syndrome 1
            Pseudovaginal Perineoscrotal Hypospadias 2
            Smith-Lemli-Opitz syndrome + 3
            X-linked ichthyosis + 3
            apparent mineralocorticoid excess syndrome 2
            congenital adrenal hyperplasia + 20
            congenital bile acid synthesis defect + 6
            cortisone reductase deficiency + 2
            glucocorticoid deficiency 1 3
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              steroid inherited metabolic disorder 49
                17-Hydroxysteroid Dehydrogenase Deficiency + 2
                Antley-Bixler syndrome + 3
                Familial Hypercholanemia 3
                Lathosterolosis 1
                Lyngstadaas Syndrome 0
                MEND syndrome 1
                Pseudovaginal Perineoscrotal Hypospadias 2
                Smith-Lemli-Opitz syndrome + 3
                X-linked ichthyosis + 3
                apparent mineralocorticoid excess syndrome 2
                congenital adrenal hyperplasia + 20
                congenital bile acid synthesis defect + 6
                cortisone reductase deficiency + 2
                glucocorticoid deficiency 1 3
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.