Disease (ORPHA:1772):
45,X/46,XY mixed gonadal dysgenesis
45,X0/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008968
hpo_term: Muscle hypertrophy of the lower extremities
chpo_term: 下肢肌肥大
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0000812
hpo_term: Abnormal internal genitalia
chpo_term: 内生殖器异常
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0012861
hpo_term: Ovotestis
chpo_term: 卵睾（两性生殖腺）
id: HP:0012887
hpo_term: Ovarian serous cystadenoma
chpo_term: 卵巢浆液性囊腺瘤
id: HP:0030079
hpo_term: Cervix cancer
chpo_term: 宫颈癌
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低