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DO Term : 17-beta hydroxysteroid dehydrogenase 3 deficiency [DOID:0112248] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 17-KSR deficiency,
  • GARD:5659,
  • 17-ketosteroidreductase deficiency,
  • 264300,
  • 17-beta-hydroxysteroid dehydrogenase 3 deficiency,
  • OMIM:264300,
  • 17-ketoreductase deficiency,
  • ORDO:752,
  • male pseudohermaphroditism with gynecomastia,
  • neutral 17-beta-hydroxysteroid oxidoreductase deficiency,
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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