Disease (ORPHA:79321):
Congenital disorder of glycosylation type Id
Congenital disorder of glycosylation type 1d
CDG1D
CDG syndrome type Id
Carbohydrate deficient glycoprotein syndrome type Id
ALG3-CDG
Mannosyltransferase 6 deficiency
CDG-Id

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0045005
hpo_term: Neural tube defect
chpo_term: 神经管缺损
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000172
hpo_term: Abnormal uvula morphology
chpo_term: 悬雍垂形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0012305
hpo_term: Coarctation of the descending aortic arch
chpo_term: 降主动脉弓缩窄
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩