Disease (ORPHA:2308):
Monosomy 11qter
Del(11)(qter)
11q terminal deletion syndrome
Distal deletion 11q
Distal monosomy 11q
Telomeric deletion 11q
Del(11)(q23.3)
Chromosome 11q deletion syndrome
Jacobsen syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
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:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全