Disease (OMIM:280000):
COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
CHIME syndrome

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0009185
hpo_term: Contracture of the proximal interphalangeal joint of the 5th finger
chpo_term: 第五指近节指间关节挛缩
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:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0010281
hpo_term: Cleft lower lip
chpo_term: 下唇裂
id: HP:0008760
hpo_term: Violent behavior
chpo_term: 暴力行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002562
hpo_term: Low-set nipples
chpo_term: 乳头低位
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0100040
hpo_term: Broad 2nd toe
chpo_term: 第二趾变宽
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0006721
hpo_term: Acute lymphoblastic leukemia
chpo_term: 急性淋巴细胞白血病
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震