Disease (ORPHA:99228):
Mosaic monosomy X syndrome

Associated phenotypes (HPO):
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0005113
hpo_term: Aortic arch aneurysm
chpo_term: 主动脉弓部瘤
id: HP:0005689
hpo_term: Dermatoglyphic ridges abnormal
chpo_term: 皮纹脊异常
id: HP:0006438
hpo_term: Enlargement of the distal femoral epiphysis
chpo_term: 股骨远端骨骺膨大
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0003492
hpo_term: High urinary gonadotropin level
chpo_term: 尿液促性腺激素高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012774
hpo_term: Increased upper to lower segment ratio
chpo_term: 上下身比例增大
id: HP:0040072
hpo_term: Abnormal forearm bone morphology
chpo_term: 前臂骨形态异常
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0006456
hpo_term: Irregular proximal tibial epiphyses
chpo_term: 胫骨近端骨骺不规则
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009759
hpo_term: Neck pterygia
chpo_term: 颈部翼状胬肉
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0010510
hpo_term: Hypermobility of toe joints
chpo_term: 趾关节活动过度
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001812
hpo_term: Hyperconvex fingernails
chpo_term: 指甲异常凸起
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003067
hpo_term: Madelung deformity
chpo_term: 马德隆畸形
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005603
hpo_term: Numerous congenital melanocytic nevi
chpo_term: 多发性先天性色素痣
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009118
hpo_term: Aplasia/Hypoplasia of the mandible
chpo_term: 下颌骨发育不良/发育不全
id: HP:0011307
hpo_term: Splayed toes
chpo_term: 分叉趾
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000471
hpo_term: Gastrointestinal angiodysplasia
chpo_term: 胃肠道血管发育不良
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0005294
hpo_term: Arterial dissection
chpo_term: 动脉夹层
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟