Disease (ORPHA:2990):
Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome

Associated phenotypes (HPO):
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001040
hpo_term: Multiple pterygia
chpo_term: 多发翼状胬肉
id: HP:0001060
hpo_term: Axillary pterygium
chpo_term: 腋窝翼状赘肉
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0008729
hpo_term: Absence of labia majora
chpo_term: 大阴唇缺如
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害