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Entry Name Description Category Pathway Gene
H00599 Ovarian dysgenesis
46,XX gonadal dysgenesis
Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... Reproductive system disease (ODG1) FSHR [HSA:2492] [KO:K04247]
(ODG2) BMP15 [HSA:9210] [KO:K05498]
(ODG3) PSMC3IP [HSA:29893] [KO:K06695]
(ODG4) MCM9 [HSA:254394] [KO:K10738]
(ODG5) SOHLH1 [HSA:402381] [KO:K22495]
(ODG6) NUP107 [HSA:57122] [KO:K14301]
(ODG7) MRPS22 [HSA:56945] [KO:K17401]
(ODG8) ESR2 [HSA:2100] [KO:K08551]
(ODG9) SPIDR [HSA:23514] [KO:K22806]
(ODG10) ZSWIM7 [HSA:125150] [KO:K25770]
H01039 Ovarian hyperstimulation syndrome ... occurrence of OHSS have been described, and different mutations in the follicle-stimulating hormone receptor (FSHr) have been reported in these cases. Polycystic ovarian syndrome (PCOS) appears to be the major predisposing ... Reproductive system disease FSHR [HSA:2492] [KO:K04247]
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