Disease (OMIM:211380):
ELSAHY-WATERS SYNDROME
Elsahy-Waters syndrome

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
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:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0011910
hpo_term: Shortening of all phalanges of fingers
chpo_term: 全部指骨短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:6000744
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0012796
hpo_term: Increased cup-to-disc ratio
chpo_term: 杯盘比增大
id: HP:0011079
hpo_term: Impacted tooth
chpo_term: 阻生牙
id: HP:0006485
hpo_term: Agenesis of incisor
chpo_term: 切牙发育不全
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突