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17-beta hydroxysteroid dehydrogenase 3 deficiency
Summary
- Synonym
-
- 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
- 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 the HSD17B3 gene on chromosome 9q22.
- Super Class
- autosomal recessive disease pseudohermaphroditism
External Links
- Disease Ontology
- DOID:0112248
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000062 | Ambiguous genitalia |
| HP:0000821 | Hypothyroidism |
| HP:0000037 | Male pseudohermaphroditism |
| HP:0000789 | Infertility |
| HP:0000028 | Cryptorchidism |
| HP:0000771 | Gynecomastia |
| HP:0000795 | Abnormality of the urethra |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0000007 | Autosomal recessive inheritance |
