Disease (ORPHA:576):
N-acetylglucosamine 1-phosphotransferase deficiency
Mucolipidosis type II alpha/beta
I-cell disease
Mucolipidosis type II

Associated phenotypes (HPO):
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006596
hpo_term: Restricted chest movement
chpo_term: 胸廓活动受限
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0031650
hpo_term: Abnormal atrioventricular valve physiology
chpo_term: 房室瓣生理异常
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0045027
hpo_term: Abnormality of the thoracic cavity
chpo_term: 胸廓异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006203
hpo_term: Decreased movement range in interphalangeal joints
chpo_term: 指间关节活动范围减小
id: HP:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006467
hpo_term: Limited shoulder movement
chpo_term: 肩部活动受限
id: HP:0007421
hpo_term: Telangiectases of the cheeks
chpo_term: 面颊毛细血管扩张
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲