Disease (OMIM:182250):
SINGLETON-MERTEN SYNDROME 1
Singleton-Merten syndrome 1

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0006353
hpo_term: Hypoplasia of the tooth germ
chpo_term: 牙胚发育不全
id: HP:0006232
hpo_term: Expanded metacarpals with widened medullary cavities
chpo_term: 髓质腔加宽型掌骨膨大
id: HP:0006112
hpo_term: Expanded phalanges with widened medullary cavities
chpo_term: 髓腔加宽型指（趾）骨膨大
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0005303
hpo_term: Aortic arch calcification
chpo_term: 主动脉弓钙化
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006386
hpo_term: Hypoplastic distal radial epiphyses
chpo_term: 桡骨远端骨骺发育不良
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0004382
hpo_term: Mitral valve calcification
chpo_term: 二尖瓣钙化
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0100550
hpo_term: Tendon rupture
chpo_term: 肌腱断裂
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0006336
hpo_term: Short dental root
chpo_term: 短牙根
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0000706
hpo_term: Eruption failure
chpo_term: 牙萌出失败
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0008102
hpo_term: Expanded metatarsals with widened medullary cavities
chpo_term: 髓腔增宽型跖骨膨大
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼