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Summary Literature (0)
DOID:0112248 - 17-beta hydroxysteroid dehydrogenase 3 deficiency

Disease Ontology 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.

Synonyms: 17-KSR deficiency, 17-beta-hydroxysteroid dehydrogenase 3 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,

Xenbase Genes :

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee