Disease (OMIM:253000):
Mucopolysaccharidosis IVA
MUCOPOLYSACCHARIDOSIS, TYPE IVA

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0003277
hpo_term: Constricted iliac wing
chpo_term: 收缩的髂翼
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000683
hpo_term: Grayish enamel
chpo_term: 灰色牙釉质
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012070
hpo_term: Chondroitin sulfate excretion in urine
chpo_term: 尿中排泄硫酸软骨素
id: HP:0008454
hpo_term: Lumbar kyphosis
chpo_term: 腰椎后凸
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003308
hpo_term: Cervical subluxation
chpo_term: 颈椎半脱位
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0030865
hpo_term: Large elbow
chpo_term: 肘关节偏大
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0001223
hpo_term: Pointed proximal second through fifth metacarpals
chpo_term: 第二-五掌骨近端变尖
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0012069
hpo_term: Keratan sulfate excretion in urine
chpo_term: 尿中排泄硫酸角质素
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003053
hpo_term: Epiphyseal deformities of tubular bones
chpo_term: 管状骨骨骺变形
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0008430
hpo_term: Anterior beaking of lumbar vertebrae
chpo_term: 腰椎前缘鸟喙样凸出
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000904
hpo_term: Flaring of rib cage
chpo_term: 喇叭状胸廓
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突