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General Information
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| Term |
17-beta hydroxysteroid dehydrogenase 3 deficiency |
ID (Ontology) |
DOID:0112248 (Human Disease) |
| 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. |
| Also Known As |
"17-beta-hydroxysteroid dehydrogenase 3 deficiency" ; "17-ketoreductase deficiency" ; "17-ketosteroidreductase deficiency" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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17-beta hydroxysteroid dehydrogenase 3 deficiency | 1 | for disease ribbon | 17-beta hydroxysteroid dehydrogenase 3 deficiency | 1 | model of | 17-beta hydroxysteroid dehydrogenase 3 deficiency | 1 |
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Relationships