Disease (OMIM:253200):
MUCOPOLYSACCHARIDOSIS, TYPE VI
Mucopolysaccharidosis, type VI

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0034861
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
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:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
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: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:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0008432
hpo_term: Anterior wedging of L1
chpo_term: 腰1椎体前侧楔形
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011941
hpo_term: Anterior wedging of L2
chpo_term: 第二腰椎体前侧楔形
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0008301
hpo_term: Dermatan sulfate excretion in urine
chpo_term: 尿液中硫酸皮肤素排泄
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼