Disease (OMIM:129900):
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001739
hpo_term: Abnormal nasopharynx morphology
chpo_term: 鼻咽部形态异常
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0002507
hpo_term: Semilobar holoprosencephaly
chpo_term: 半脑叶前脑无裂畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0000145
hpo_term: Transverse vaginal septum
chpo_term: 阴道横膈
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000198
hpo_term: Absence of Stensen duct
chpo_term: 无腮腺导管
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症