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ONTOLOGY REPORT - ANNOTATIONS


Term:Adrenogenital Syndrome
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Accession:DOID:9002128 term browser 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
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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 1 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 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
hyperandrogenism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr2 bone morphogenetic protein receptor type 2 JBrowse link 9 66,568,074 66,683,019 RGD:11554173
G Il6st interleukin 6 signal transducer JBrowse link 2 44,279,199 44,319,427 RGD:1625428
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8553031
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
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
Mullerian Aplasia and Hyperandrogenism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Adrenogenital Syndrome 29
        congenital adrenal hyperplasia + 25
        hyperandrogenism + 4
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Urogenital Abnormalities 242
            sex development disorder 113
              Adrenogenital Syndrome 29
                congenital adrenal hyperplasia + 25
                hyperandrogenism + 4
paths to the root