Disease (ORPHA:86309):
Congenital disorder of glycosylation type Ij
Carbohydrate deficient glycoprotein syndrome type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
CDG syndrome type Ij
Congenital disorder of glycosylation type 1j
DPAGT1-CDG
CDG-Ij
CDG1J

Associated phenotypes (HPO):
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0012512
hpo_term: Diffuse optic disc pallor
chpo_term: 弥漫性视神经乳头苍白
id: HP:0025534
hpo_term: Ocular melanocytosis
chpo_term: 巩膜黑变病
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0030213
hpo_term: Emotional blunting
chpo_term: 情感迟钝
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0012168
hpo_term: Head-banging
chpo_term: 撞头
id: HP:0012172
hpo_term: Stereotypical body rocking
chpo_term: 刻板性身体摇摆