Disease (OMIM:601559):
Stuve-Wiedemann syndrome
STUVE-WIEDEMANN SYNDROME

Associated phenotypes (HPO):
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004684
hpo_term: Talipes valgus
chpo_term: 马蹄外翻足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0009185
hpo_term: Contracture of the proximal interphalangeal joint of the 5th finger
chpo_term: 第五指近节指间关节挛缩
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000205
hpo_term: Pursed lips
chpo_term: 撅起的嘴唇
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0004964
hpo_term: Pulmonary arterial medial hypertrophy
chpo_term: 肺动脉中膜肥厚
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004980
hpo_term: Metaphyseal rarefaction
chpo_term: 干骺端疏松
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100865
hpo_term: Broad ischia
chpo_term: 坐骨增宽
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0005089
hpo_term: Abnormal metaphyseal trabeculation
chpo_term: 干骺端小梁异常
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0034252
hpo_term: Absent corneal reflex
chpo_term: 角膜反射缺失
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0007610
hpo_term: Blotching pigmentation of the skin
chpo_term: 皮肤色素沉着斑
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008824
hpo_term: Hypoplastic iliac body
chpo_term: 髂骨体发育不良
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失