TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:98870):
CDA type III
Congenital dyserythropoietic anemia type III
CDA type 3
Congenital dyserythropoietic anemia type 3
CDA III

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0012130
hpo_term: Abnormal erythroid lineage cell morphology
chpo_term: 红系细胞形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025035
hpo_term: Abnormal proerythroblast morphology
chpo_term: 原红细胞形态异常
id: HP:0025196
hpo_term: Increased total iron binding capacity
chpo_term: 总铁结合力增高
id: HP:0025354
hpo_term: Abnormal cellular phenotype
chpo_term: 细胞表型异常
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
id: HP:0030140
hpo_term: Oral cavity bleeding
chpo_term: 口腔出血
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:1381):
Karandikar-Maria-Kamble syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0008063
hpo_term: Aplasia/Hypoplasia of the lens
chpo_term: 晶状体发育缺陷/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:216873):
Atypical pantothenate kinase-associated neurodegeneration
PKAN, atypical form
NBIA1, atypical form
Neurodegeneration with brain iron accumulation type 1, atypical form

Associated phenotypes (HPO):
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0008760
hpo_term: Violent behavior
chpo_term: 暴力行为
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
Disease (ORPHA:1380):
Cataract-nephropathy-encephalopathy syndrome
Crome syndrome

Associated phenotypes (HPO):
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:171445):
Filamin C-related filaminopathy
Muscle filaminopathy
MFM5
FLNC-associated myofibrillar myopathy

Associated phenotypes (HPO):
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0025168
hpo_term: Left ventricular diastolic dysfunction
chpo_term: 左心室舒张功能障碍
id: HP:0030177
hpo_term: Abnormality of peripheral nervous system electrophysiology
chpo_term: 周围神经系统电生理异常
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0030235
hpo_term: Extremely elevated creatine kinase
chpo_term: 肌酸磷酸激酶极度上升
id: HP:0410011
hpo_term: Abnormality of masticatory muscle
chpo_term: 咀嚼肌异常
Disease (ORPHA:86884):
Subcutaneous panniculitic T-cell lymphoma
Subcutaneous panniculitis-like T-cell lymphoma
SPTCL

Associated phenotypes (HPO):
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:171442):
Adult-onset nemaline myopathy

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
Disease (ORPHA:329478):
Adult-onset distal myopathy due to VCP mutation

Associated phenotypes (HPO):
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001437
hpo_term: Abnormality of the musculature of the lower limbs
chpo_term: 下肢肌肉异常
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0008978
hpo_term: Necrotizing myopathy
chpo_term: 坏死性肌病
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
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
Disease (ORPHA:1389):
Cortical blindness-intellectual disability-polydactyly syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
Disease (ORPHA:1388):
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Palatodigital syndrome, Catel-Manzke type
Micrognathia digital syndrome
Index finger anomaly-Pierre Robin syndrome
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Catel-Manzke syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome

Associated phenotypes (HPO):
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0010285
hpo_term: Oral synechia
chpo_term: 口腔粘连
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:86893):
NLPHL
Nodular lymphocyte predominant Hodgkin lymphoma

Associated phenotypes (HPO):
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:1387):
Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009832
hpo_term: Abnormal distal phalanx morphology of finger
chpo_term: 末节指骨形态异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:927):
Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency

Associated phenotypes (HPO):
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0008281
hpo_term: Acute hyperammonemia
chpo_term: 急性高氨血症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0006582
hpo_term: Reye syndrome-like episodes
chpo_term: Reye综合征样发作
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
Disease (ORPHA:329475):
Spastic paraplegia-Paget disease of bone syndrome

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004563
hpo_term: Increased spinal bone density
chpo_term: 脊柱骨密度增加
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
Disease (ORPHA:171439):
Mild nemaline myopathy
Childhood-onset nemaline myopathy

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030192
hpo_term: Fatigable weakness of bulbar muscles
chpo_term: 口咽部肌肉疲劳性无力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
Disease (ORPHA:926):
Acatalasemia
Catalase deficiency

Associated phenotypes (HPO):
id: HP:0012517
hpo_term: Reduced catalase level
chpo_term: 过氧化氢酶活性降低
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000166
hpo_term: Severe periodontitis
chpo_term: 重度牙周炎
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0040113
hpo_term: Old-aged sensorineural hearing impairment
chpo_term: 老年感音神经性听力障碍
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0100605
hpo_term: Neoplasm of the larynx
chpo_term: 喉部肿瘤
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症