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.
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 the HSD17B3 gene on chromosome 9q22. (DO)
Synonyms:
exact_synonym:
17-Beta Hydroxysteroid Dehydrogenase III Deficiency; 17-Hydroxysteroid Dehydrogenase Deficiency; 17-Ketosteroid Reductase Deficiency Of Testis; 17-Ksr Deficiency; 17-alpha ketosteroid reductase deficiency of testis; 17-beta-hydroxysteroid dehydrogenase deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; HSD17B3-RELATED CONDITION; 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
CTD Direct Evidence: marker/mechanism OMIM:264300 ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency | ClinVar Annotator: match by term: PBFE DEFICIENCY OMIM:261515 DNA:mutations:multiple (human)
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