Disease (OMIM:274000):
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Thrombocytopenia-absent radius syndrome

Associated phenotypes (HPO):
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0001498
hpo_term: Carpal bone hypoplasia
chpo_term: 腕骨骨发育不全
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0030137
hpo_term: Prolonged bleeding following circumcision
chpo_term: 包皮环切术后出血时间延长
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0006507
hpo_term: Aplasia/hypoplasia of the humerus
chpo_term: 肱骨发育不良/发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005773
hpo_term: Short forearm
chpo_term: 前臂短
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0100327
hpo_term: Cow milk allergy
chpo_term: 牛奶过敏
id: HP:0004717
hpo_term: Axial malrotation of the kidney
chpo_term: 肾轴向旋转异常
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0000996
hpo_term: Facial capillary hemangioma
chpo_term: 面部毛细血管瘤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0012098
hpo_term: Edema of the dorsum of feet
chpo_term: 足背水肿
id: HP:0009486
hpo_term: Radial deviation of the hand
chpo_term: 手桡侧偏斜
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0008952
hpo_term: Shoulder muscle hypoplasia
chpo_term: 肩部肌肉发育不良
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0004977
hpo_term: Bilateral radial aplasia
chpo_term: 双侧桡骨发育不全
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0007413
hpo_term: Nevus flammeus of the forehead
chpo_term: 前额鲜红斑痣
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌