Disease (ORPHA:116):
Wiedemann-Beckwith syndrome
Beckwith-Wiedemann syndrome
Exomphalos-macroglossia-gigantism syndrome
BWS

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003271
hpo_term: Visceromegaly
chpo_term: 内脏肿大
id: HP:0004464
hpo_term: Postauricular pit
chpo_term: 耳后凹陷
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0008523
hpo_term: Posterior helix pit
chpo_term: 耳轮后凹陷
id: HP:0008659
hpo_term: Multiple small medullary renal cysts
chpo_term: 多发性肾髓质小囊肿
id: HP:0009908
hpo_term: Anterior creases of earlobe
chpo_term: 耳垂前襞
id: HP:0011417
hpo_term: Long umbilical cord
chpo_term: 长脐带
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030720
hpo_term: Subchorionic septal cyst
chpo_term: 绒毛膜下间隔囊肿
id: HP:0031510
hpo_term: Linear earlobe crease
chpo_term: 线型耳垂折痕
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100876
hpo_term: Infra-orbital crease
chpo_term: 下睑皱纹
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000329
hpo_term: Facial hemangioma
chpo_term: 面部血管瘤
id: HP:0000362
hpo_term: Otosclerosis
chpo_term: 耳硬化症
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0002884
hpo_term: Hepatoblastoma
chpo_term: 肝母细胞瘤
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0006744
hpo_term: Adrenocortical carcinoma
chpo_term: 肾上腺皮质癌
id: HP:0008186
hpo_term: Adrenocortical cytomegaly
chpo_term: 肾上腺皮质巨细胞症
id: HP:0008676
hpo_term: Congenital megaureter
chpo_term: 先天性巨输尿管症
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0012090
hpo_term: Abnormal pancreas morphology
chpo_term: 胰腺形态异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0030255
hpo_term: Large intestinal polyposis
chpo_term: 大肠息肉病
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100243
hpo_term: Leiomyosarcoma
chpo_term: 平滑肌肉瘤
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形