Disease (OMIM:263650):
Popliteal pterygium syndrome, Bartsocas-Papas type 1
BARTSOCAS-PAPAS SYNDROME

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0000042
hpo_term: Absent external genitalia
chpo_term: 外生殖器缺如
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010489
hpo_term: Absent palmar crease
chpo_term: 手掌掌纹缺如
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0032527
hpo_term: Inferiorly positioned umbilicus
chpo_term: 低位脐
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0001060
hpo_term: Axillary pterygium
chpo_term: 腋窝翼状赘肉
id: HP:0010285
hpo_term: Oral synechia
chpo_term: 口腔粘连
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
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:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0030004
hpo_term: Cicatricial lagophthalmos
chpo_term: 瘢痕性睑裂闭合不全
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011224
hpo_term: Ablepharon
chpo_term: 无睑畸形
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
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:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂