WormBase Tree Display for DO_term: DOID:0112248
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| DOID:0112248 | Name | 17-beta hydroxysteroid dehydrogenase 3 deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | 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 | |||||
| Parent | Is_a | DOID:3765 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 264300 | |
| Attribute_of | Gene_by_orthology | WBGene00002891 | |||
| WBGene00006435 | |||||
| WBGene00007363 | |||||
| WBGene00007364 | |||||
| WBGene00008678 |
