Disease (OMIM:218600):
BALLER-GEROLD SYNDROME
Baller-Gerold syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0010048
hpo_term: Aplasia of metacarpal bones
chpo_term: 掌骨不发育
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0009821
hpo_term: Forearm undergrowth
chpo_term: 前臂发育不良
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0006467
hpo_term: Limited shoulder movement
chpo_term: 肩部活动受限
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011318
hpo_term: Bicoronal synostosis
chpo_term: 双侧冠状缝闭合
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0009486
hpo_term: Radial deviation of the hand
chpo_term: 手桡侧偏斜
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0005886
hpo_term: Aphalangy of the hands
chpo_term: 手指骨缺失
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0005201
hpo_term: Anomalous splenoportal venous system
chpo_term: 异常脾门静脉系统
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0004871
hpo_term: Perineal fistula
chpo_term: 会阴瘘
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0004231
hpo_term: Carpal bone aplasia
chpo_term: 腕骨发育不全
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0007452
hpo_term: Midface capillary hemangioma
chpo_term: 面中部毛细血管瘤
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平