Disease (OMIM:309900):
MUCOPOLYSACCHARIDOSIS, TYPE II
Mucopolysaccharidosis, type II

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002341
hpo_term: Cervical cord compression
chpo_term: 颈脊髓压迫症
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
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:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0002159
hpo_term: Heparan sulfate excretion in urine
chpo_term: 尿中硫酸乙酰肝素排泄
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003541
hpo_term: Urinary glycosaminoglycan excretion
chpo_term: 糖胺聚糖尿排泄
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0034203
hpo_term: Decreased iduronate sulfatase level
chpo_term: 艾杜糖醛酸硫酸酯酶水平降低
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大