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GENATLAS PHENOTYPE

last update : 10/07/2006

Symbol	HAPOD
Location	17q21.2
Name	hirsutism with amenorrhea and polycystic ovarian disease
Corresponding gene	HSD17B1
Other symbol(s)	E17KSR, EDH17B2, HSD17B1
Main clinical features	male pseudohermaphroditism and gynecomastia
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	estrogenic 17-ketosteroid reductase (HSD17B1)

Remark(s)