ONTOLOGY REPORT - ANNOTATIONS


Term:17-Hydroxysteroid Dehydrogenase Deficiency
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Accession:DOID:9005168 term browser browse the term
Synonyms:exact_synonym: 17 Beta-hydroxysteroid dehydrogenase deficiency;   17 alpha ketosteroid reductase deficiency of testis;   17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency;   17-Beta Hydroxysteroid Dehydrogenase III Deficiency;   17-Ketosteroid Reductase Deficiency Of Testis;   17-Ksr Deficiency;   Male pseudohermaphroditism with gynecomastia;   Neutral 17 beta-hydroxysteroid oxidoreductase deficiency
 narrow_synonym: PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
 related_synonym: TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY
 primary_id: MESH:C537805;   RDO:0003708
 alt_id: OMIM:264300
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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
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:8554872
RGD:10411884
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      thoracic disease 1563
        breast disease 1163
          gynecomastia 10
            17-Hydroxysteroid Dehydrogenase Deficiency 4
              D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Urogenital Abnormalities 248
            sex development disorder 116
              gynecomastia 10
                17-Hydroxysteroid Dehydrogenase Deficiency 4
                  D-bifunctional protein deficiency 1
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.