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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: Testosterone 17-beta-dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      skin disease 3782
        breast disease 1360
          gynecomastia 9
            17-beta hydroxysteroid dehydrogenase 3 deficiency 3
              D-bifunctional protein deficiency 2
Path 2
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        Congenital Abnormalities 6764
          Urogenital Abnormalities 380
            disorder of sexual development 211
              46, XY Disorders of Sex Development 67
                17-beta hydroxysteroid dehydrogenase 3 deficiency 3
                  D-bifunctional protein deficiency 2
paths to the root