Disease (OMIM:600920):
VAN DEN ENDE-GUPTA SYNDROME
Van den Ende-Gupta syndrome

Associated phenotypes (HPO):
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0010493
hpo_term: Long metacarpals
chpo_term: 长掌骨
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0006236
hpo_term: Slender metacarpals
chpo_term: 掌骨修长
id: HP:0006633
hpo_term: Glenoid fossa hypoplasia
chpo_term: 关节窝发育不全
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
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:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001215
hpo_term: Camptodactyly of 2nd-5th fingers
chpo_term: 第二-五指屈曲
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0005033
hpo_term: Distal ulnar hypoplasia
chpo_term: 尺骨远端发育不良
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0001786
hpo_term: Narrow foot
chpo_term: 窄足
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0005001
hpo_term: Recurrent patellar dislocation
chpo_term: 复发性髌骨脱位
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:6000506
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌