ZFIN Human Disease: 17-beta hydroxysteroid dehydrogenase 3 deficiency

OBO ID: DOID:0112248

Term Name:	17-beta hydroxysteroid dehydrogenase 3 deficiency		Search Ontology:
Synonyms:	17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 17-KSR 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. (3)
References:	GARD:5659 OMIM:264300 ORDO:752
Ontology:	Human Disease ( DOID:0112248 )

Relationships

is a type of:	autosomal recessive disease pseudohermaphroditism autosomal recessive disease pseudohermaphroditism Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HSD17B3	hsd17b3	Pseudohermaphroditism, male, with gynecomastia	264300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None