17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
Disease ID: disease_node_17168
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| Dbxref | GARD:5659, MIM:264300, ORDO:752 |
|---|---|
| Subclassof | DOID_3765, DOID_0050737 |
| Data Source | DOID |
| 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 |
| Doid Label | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17168 |
| Doid Id | DOID_0112248 |
| Label | 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)