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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:17-beta hydroxysteroid dehydrogenase 3 deficiency
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Accession:DOID:0112248 term browser browse the term
Definition:A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22. (DO)
Synonyms:exact_synonym: 17 Beta-hydroxysteroid dehydrogenase deficiency;   17 alpha ketosteroid reductase deficiency of testis;   17-Beta Hydroxysteroid Dehydrogenase III Deficiency;   17-Hydroxysteroid Dehydrogenase Deficiency;   17-Ketosteroid Reductase Deficiency Of Testis;   17-Ksr Deficiency;   17-ketoreductase deficiency;   17-ketosteroidreductase deficiency;   46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 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
 alt_id: DOID:9005168;   OMIM:264300
 xref: GARD:5659;   NCI:C120203;   ORDO:752
For additional species annotation, visit the Alliance of Genome Resources.


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17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      skin disease 2943
        breast disease 1302
          gynecomastia 6
            17-beta hydroxysteroid dehydrogenase 3 deficiency 2
              D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Urogenital Abnormalities 323
            disorder of sexual development 162
              46, XY Disorders of Sex Development 46
                17-beta hydroxysteroid dehydrogenase 3 deficiency 2
                  D-bifunctional protein deficiency 1
paths to the root