ONTOLOGY REPORT - ANNOTATIONS


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
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17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:8554872
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 JBrowse link 17 1,579,319 1,610,745 RGD:7240710
RGD:8554872
RGD:11554173
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Adrenal Hyperplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:7240710
RGD:8554872
RGD:11554173
Adrenal Hyperplasia, Congenital, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:7240710
RGD:8554872
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:7240710
RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
congenital adrenal hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avpr1a arginine vasopressin receptor 1A JBrowse link 7 67,341,366 67,345,290 RGD:11554173
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:11554173
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:1599693
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:1600799
RGD:734864
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:8554872
RGD:13592920
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 JBrowse link 7 116,155,928 116,161,781 RGD:13592920
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:4889141
RGD:8554872
RGD:11554173
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 JBrowse link 20 4,486,213 4,489,358 RGD:4889127
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:8554872
RGD:11554173
G Htr4 5-hydroxytryptamine receptor 4 JBrowse link 18 57,637,013 57,820,317 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4889128
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:1600070
RGD:13592920
RGD:8554872
RGD:4145592
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:7240710
RGD:8554872
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910854
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910854
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hypoplasia with Precocious Puberty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
congenital bile acid synthesis defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:8554872
congenital bile acid synthesis defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:7240710
RGD:8554872
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
congenital bile acid synthesis defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:7240710
RGD:8554872
RGD:11554173
congenital bile acid synthesis defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:7240710
RGD:8554872
congenital bile acid synthesis defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
congenital bile acid synthesis defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:8554872
RGD:7240710
congenital bile acid synthesis defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox2 acyl-CoA oxidase 2 JBrowse link 15 18,449,304 18,481,472 RGD:8554872
RGD:7240710
cortisone reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:1625067
RGD:11554173
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:1625067
RGD:11554173
cortisone reductase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:8554872
RGD:7240710
cortisone reductase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:7240710
RGD:8554872
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
Familial Hypercholanemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baat bile acid CoA:amino acid N-acyltransferase JBrowse link 5 64,768,397 64,777,368 RGD:7240710
RGD:8554872
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:7240710
RGD:8554872
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:7240710
RGD:8554872
Glucocorticoid Deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc2r melanocortin 2 receptor JBrowse link 18 64,166,959 64,178,729 RGD:7240710
RGD:8554872
G Mrap melanocortin 2 receptor accessory protein JBrowse link 11 30,904,733 30,915,225 RGD:8554872
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
Lathosterolosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sc5d sterol-C5-desaturase JBrowse link 8 46,525,406 46,537,014 RGD:8554872
RGD:7240710
RGD:11554173
Lipoid Congenital Adrenal Hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:7240710
RGD:8554872
RGD:11554173
MEND SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:8554872
RGD:7240710
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:7240710
RGD:8554872
RGD:11554173
Smith-Lemli-Opitz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:1600899
RGD:8554872
RGD:11554173
RGD:734884
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552380
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:7240710
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        lipid metabolism disorder 726
          steroid inherited metabolic disorder 58
            17-Hydroxysteroid Dehydrogenase Deficiency + 4
            Antley-Bixler syndrome + 3
            Familial Hypercholanemia 3
            Glucocorticoid Deficiency 1 2
            Lathosterolosis 1
            Lyngstadaas Syndrome 0
            MEND SYNDROME 1
            Pseudovaginal Perineoscrotal Hypospadias 5
            Smith-Lemli-Opitz syndrome + 2
            X-linked ichthyosis + 3
            apparent mineralocorticoid excess syndrome 2
            congenital adrenal hyperplasia + 26
            congenital bile acid synthesis defect + 7
            cortisone reductase deficiency + 2
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          inherited metabolic disorder 1820
            lipid metabolism disorder 726
              steroid inherited metabolic disorder 58
                17-Hydroxysteroid Dehydrogenase Deficiency + 4
                Antley-Bixler syndrome + 3
                Familial Hypercholanemia 3
                Glucocorticoid Deficiency 1 2
                Lathosterolosis 1
                Lyngstadaas Syndrome 0
                MEND SYNDROME 1
                Pseudovaginal Perineoscrotal Hypospadias 5
                Smith-Lemli-Opitz syndrome + 2
                X-linked ichthyosis + 3
                apparent mineralocorticoid excess syndrome 2
                congenital adrenal hyperplasia + 26
                congenital bile acid synthesis defect + 7
                cortisone reductase deficiency + 2
paths to the root

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