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ONTOLOGY REPORT - ANNOTATIONS


Term:21-alpha-hydroxylase deficiency pathway
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Accession:PW:0002167 term browser browse the term
Definition:A form of congenital hyperplasia resulting from defects in the CYP21A2 gene.
Synonyms:related_synonym: SMP:00373


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21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:10402751
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:10402751
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:10402751
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:10402751
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 JBrowse link 7 116,155,928 116,161,781 RGD:10402751
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:10402751
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:10402751
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:10402751
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 RGD:10402751
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:10402751

Term paths to the root
Path 1
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  pathway 6063
    disease pathway 1951
      congenital disease pathway 528
        inborn genetic disease pathway 528
          congenital adrenal hyperplasia pathway 10
            21-alpha-hydroxylase deficiency pathway 10
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.