Disease (ORPHA:1896):
EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0000068
hpo_term: Urethral atresia
chpo_term: 尿道闭锁
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0004275
hpo_term: Duplication of hand bones
chpo_term: 手骨重复
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000359
hpo_term: Abnormality of the inner ear
chpo_term: 内耳异常
id: HP:0000370
hpo_term: Abnormality of the middle ear
chpo_term: 中耳异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
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:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0010311
hpo_term: Aplasia/Hypoplasia of the breasts
chpo_term: 乳房发育不全/不良