Disease (OMIM:620654):
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0034396
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0040080
hpo_term: Anteverted ears
chpo_term: 前倾耳
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:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011272
hpo_term: Underdeveloped tragus
chpo_term: 耳屏发育不良
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌