TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:180800):
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
Roussy-Levy hereditary areflexic dystasia

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003382
hpo_term: Hypertrophic nerve changes
chpo_term: 肥厚性神经改变
id: HP:0003481
hpo_term: Segmental peripheral demyelination/remyelination
chpo_term: 节段性神经末梢脱髓鞘/髓鞘再生
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:237800):
HYPERBILIRUBINEMIA, SHUNT, PRIMARY
Hyperbilirubinemia, shunt, primary

Associated phenotypes (HPO):
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617927):
Orofaciodigital syndrome XVIII
OROFACIODIGITAL SYNDROME XVIII

Associated phenotypes (HPO):
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
Disease (OMIM:608807):
Muscular dystrophy, limb-girdle, autosomal recessive 10
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:620153):
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4
Mosaic variegated aneuploidy syndrome 4

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:300706):
Mental retardation, x-linked, syndromic, Turner type
MOVED TO 309590

Associated phenotypes (HPO):
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:610090):
Pyridoxamine 5-prime-phosphate oxidase deficiency
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:620635):
CARDIOMYOPATHY, DILATED, 2J
Cardiomyopathy, dilated, 2J

Associated phenotypes (HPO):
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:617099):
Autoinflammation, panniculitis, and dermatosis syndrome
AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0032219
hpo_term: Increased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例增高
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:145590):
Hyperthermia, cutaneous, with headaches and nausea
HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:209050):
Athrombia, essential
ATHROMBIA, ESSENTIAL

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0008352
hpo_term: Impaired platelet adhesion
chpo_term: 血小板粘附障碍
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:300048):
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0030889
hpo_term: Congenital shortened small intestine
chpo_term: 先天性小肠短缩
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0040309
hpo_term: Increased size of the mandible
chpo_term: 下颌骨增大
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:241000):
Hypogonadism with low-grade mental deficiency and microcephaly
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0010714
hpo_term: 2-4 toe syndactyly
chpo_term: 第二至第四脚趾并趾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:260970):
PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN
Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and

Associated phenotypes (HPO):
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0007313
hpo_term: Cerebral degeneration
chpo_term: 脑变性
id: HP:0006976
hpo_term: Necrotizing encephalopathy
chpo_term: 坏死性脑病
Disease (OMIM:208400):
ASPARTYLGLUCOSAMINURIA
Aspartylglucosaminuria

Associated phenotypes (HPO):
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:6000573
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001071
hpo_term: Angiokeratoma corporis diffusum
chpo_term: 弥漫性血管角皮瘤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0002738
hpo_term: Hypoplastic frontal sinuses
chpo_term: 额窦发育不全
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003304
hpo_term: Spondylolysis
chpo_term: 峡部裂
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012068
hpo_term: Aspartylglucosaminuria
chpo_term: 天冬氨酰葡萄糖胺尿症
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0032198
hpo_term: Decreased prothrombin time
chpo_term: 凝血酶原时间减少
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:612877):
CARDIOMYOPATHY, DILATED, 1BB
Cardiomyopathy, dilated, 1BB

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:619922):
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
Neurodevelopmental disorder with dystonia and seizures

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0010852
hpo_term: EEG with photoparoxysmal response
chpo_term: 脑电图，光阵发性反应
id: HP:0033258
hpo_term: Sudden unexpected death in epilepsy
chpo_term: 癫痫猝死症
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
Disease (OMIM:176600):
PRESENILE DEMENTIA, KRAEPELIN TYPE
Presenile dementia, Kraepelin type

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618396):
Epileptic encephalopathy, early infantile, 74
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620609):
LONG-OLSEN-DISTELMAIER SYNDROME
Long-Olsen-Distelmaier syndrome

Associated phenotypes (HPO):
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002416
hpo_term: Subependymal cysts
chpo_term: 室管膜下囊肿
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:610245):
Spinocerebellar ataxia 23
SPINOCEREBELLAR ATAXIA 23

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进