Disease (OMIM:235730):
MOWAT-WILSON SYNDROME
Mowat-Wilson syndrome

Associated phenotypes (HPO):
id: HP:0025100
hpo_term: Abnormal hippocampus morphology
chpo_term: 海马形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0004961
hpo_term: Pulmonary artery sling
chpo_term: 肺动脉吊带
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0004362
hpo_term: Abnormality of enteric ganglion morphology
chpo_term: 肠神经节形态异常
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012429
hpo_term: Aplasia/Hypoplasia of the cerebral white matter
chpo_term: 脑白质发育缺陷/发育不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007048
hpo_term: Large basal ganglia
chpo_term: 基底节增大
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003720
hpo_term: Generalized muscle hypertrophy
chpo_term: 广泛肌肉肥大
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾