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Disease Ontology Browser
17-beta hydroxysteroid dehydrogenase 3 deficiency (DOID:0112248)
Alliance: disease page
Synonyms: '17-beta-hydroxysteroid dehydrogenase 3 deficiency'; '17-ketoreductase deficiency'; '17-ketosteroidreductase deficiency'; '17-KSR 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'
Alt IDs: OMIM:264300, ORDO:752
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory