Disease (OMIM:249000):
Meckel syndrome 1
MECKEL SYNDROME, TYPE 1

Associated phenotypes (HPO):
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0004639
hpo_term: Elevated amniotic fluid alpha-fetoprotein
chpo_term: 羊水甲胎蛋白升高
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001341
hpo_term: Olfactory lobe agenesis
chpo_term: 嗅叶不发育
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0009931
hpo_term: Enlarged naris
chpo_term: 大鼻孔
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
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:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0006563
hpo_term: Malformation of the hepatic ductal plate
chpo_term: 肝管板畸形
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如