Disease (ORPHA:2753):
OFD4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
Orofaciodigital syndrome type 4
Oral-facial-digital syndrome type 4

Associated phenotypes (HPO):
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005772
hpo_term: Aplasia/Hypoplasia of the tibia
chpo_term: 胫骨发育不全或发育低下
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009118
hpo_term: Aplasia/Hypoplasia of the mandible
chpo_term: 下颌骨发育不良/发育不全
id: HP:0010285
hpo_term: Oral synechia
chpo_term: 口腔粘连
id: HP:0010469
hpo_term: Absent testis
chpo_term: 睾丸缺如
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0011267
hpo_term: Microtia, third degree
chpo_term: 小耳畸形，3级
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0030868
hpo_term: Monorchism
chpo_term: 单睾丸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0100308
hpo_term: Cerebral cortical hemiatrophy
chpo_term: 大脑皮层偏侧萎缩
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0004871
hpo_term: Perineal fistula
chpo_term: 会阴瘘
id: HP:0005944
hpo_term: Bilateral lung agenesis
chpo_term: 双肺发育不全
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0011255
hpo_term: Absent crus of helix
chpo_term: 耳轮脚缺失
id: HP:0025023
hpo_term: Rectal atresia
chpo_term: 直肠闭锁
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常