Disease (ORPHA:1299):
BSG syndrome
Branchioskeletogenital syndrome
Elsahy-Waters syndrome

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000607
hpo_term: Periorbital wrinkles
chpo_term: 眶周皱纹
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002679
hpo_term: Abnormal sella turcica morphology
chpo_term: 蝶鞍形态异常
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008516
hpo_term: Abnormality of the vertebral spinous processes
chpo_term: 椎体棘突异常
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0010299
hpo_term: Abnormal dentin morphology
chpo_term: 牙本质形态异常
id: HP:0010724
hpo_term: Advanced pneumatization of the mastoid process
chpo_term: 乳突过度气化
id: HP:0010749
hpo_term: Blepharochalasis
chpo_term: 眼皮松弛
id: HP:0011072
hpo_term: Rootless teeth
chpo_term: 无根牙
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100334
hpo_term: Unilateral cleft palate
chpo_term: 单侧腭裂
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0003423
hpo_term: Thoracolumbar kyphoscoliosis
chpo_term: 胸腰段脊柱后侧凸畸形
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0000071
hpo_term: Ureteral stenosis
chpo_term: 输尿管狭窄
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000042
hpo_term: Absent external genitalia
chpo_term: 外生殖器缺如
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0009814
hpo_term: Upper limb peromelia
chpo_term: 上肢不全
id: HP:0009818
hpo_term: Amelia involving the lower limbs
chpo_term: 下肢缺肢