Disease (OMIM:608328):
WEILL-MARCHESANI SYNDROME 2
Weill-Marchesani syndrome 2, dominant

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011222
hpo_term: Depressed glabella
chpo_term: 印堂凹陷
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0012019
hpo_term: Lens luxation
chpo_term: 晶状体脱位
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002682
hpo_term: Broad skull
chpo_term: 颅骨增宽
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009768
hpo_term: Broad phalanges of the hand
chpo_term: 指骨变宽
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼