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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 AKR1D1 aldo-keto reductase family 1 member D1 JBrowse link 18 11,416,065 11,532,846 RGD:9068941
G CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 JBrowse link 7 59,172,829 59,188,479 RGD:9068941
G CYP17A1 cytochrome P450 17A1 JBrowse link 14 113,805,616 113,820,445 RGD:9068941
G CYP21A2 cytochrome P450, family 21, subfamily A, polypepide 2 JBrowse link 7 24,086,138 24,089,364 RGD:9068941
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 9 133,231,451 133,278,396 RGD:9068941
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 6 28,084,087 28,089,256 RGD:9068941
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 JBrowse link 4 101,565,229 101,574,110 RGD:9068941
G LOC110260194 cytochrome P450 11B1, mitochondrial JBrowse link 4 1,365,725 1,373,138 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 2317
    disease pathway 621
      congenital disease pathway 519
        inborn genetic disease pathway 519
          congenital adrenal hyperplasia pathway 8
            21-alpha-hydroxylase deficiency pathway 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.