TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:616):
Medulloblastoma

Associated phenotypes (HPO):
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0004481
hpo_term: Progressive macrocephaly
chpo_term: 渐进性大头畸形
id: HP:0007129
hpo_term: Cerebellar medulloblastoma
chpo_term: 小脑髓母细胞瘤
id: HP:0009878
hpo_term: Cerebellar ataxia associated with quadrupedal gait
chpo_term: 小脑性共济失调与四足步态相关
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0007352
hpo_term: Cerebellar calcifications
chpo_term: 小脑钙化
id: HP:0007824
hpo_term: Total ophthalmoplegia
chpo_term: 全眼肌麻痹
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0011695
hpo_term: Cerebellar hemorrhage
chpo_term: 小脑出血
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
Disease (ORPHA:611):
Sporadic inclusion body myositis
sIBM
Inclusion body myositis
IBM

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
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:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0009071
hpo_term: Inflammatory myopathy
chpo_term: 炎症性肌病
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0034153
hpo_term: Anti-cytosolic-5-nucleotidase-1A antibody positivity
chpo_term: 抗细胞溶质5-核苷酸酶1A抗体阳性
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (ORPHA:610):
LGMD D5 collagen VI-related dystrophy
Mild form of collagen VI-related dystrophy
LGMD D5 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Bethlem myopathy
Mild form of COL6-related dystrophy
LGMD R22 collagen 6-related dystrophy
Bethlem muscular dystrophy

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0030095
hpo_term: Reduced muscle collagen VI
chpo_term: 肌肉胶原蛋白VI型减少
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001073
hpo_term: Cigarette-paper scars
chpo_term: 卷烟纸样瘢痕
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
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:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0010176
hpo_term: Curved toe phalanx
chpo_term: 趾骨弯曲
id: HP:0012497
hpo_term: Reduced maximal expiratory pressure
chpo_term: 最大呼气压降低
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
Disease (ORPHA:650):
Lecithin-cholesterol acyltransferase deficiency
LCAT deficiency

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0031799
hpo_term: Decreased circulating apolipoprotein AI concentration
chpo_term: 载脂蛋白AI水平降低
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
Disease (ORPHA:653):
MEN2
Multiple endocrine neoplasia type 2

Associated phenotypes (HPO):
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002640
hpo_term: Hypertension associated with pheochromocytoma
chpo_term: 嗜铬细胞瘤高血压
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0003528
hpo_term: Elevated calcitonin
chpo_term: 降钙素升高
id: HP:0003639
hpo_term: Elevated urinary epinephrine
chpo_term: 尿肾上腺素增高
id: HP:0008208
hpo_term: Parathyroid hyperplasia
chpo_term: 甲状旁腺增生
id: HP:0011781
hpo_term: Thyroid C cell hyperplasia
chpo_term: 甲状腺C细胞增生
id: HP:0011976
hpo_term: Elevated urinary catecholamines
chpo_term: 尿儿茶酚胺升高
id: HP:0011978
hpo_term: Elevated urinary vanillylmandelic acid
chpo_term: 尿香草扁桃酸水平升高
id: HP:0025388
hpo_term: Thyroid nodule
chpo_term: 甲状腺结节
id: HP:0032241
hpo_term: Cervical neoplasm
chpo_term: 宫颈肿瘤
id: HP:0100735
hpo_term: Hypertensive crisis
chpo_term: 高血压危象
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002864
hpo_term: Paraganglioma of head and neck
chpo_term: 头部和颈部的副神经节瘤
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0010726
hpo_term: Prominent corneal nerve fibers
chpo_term: 角膜神经纤维突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0025151
hpo_term: Ganglioneuromatosis
chpo_term: 节细胞神经瘤
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0030430
hpo_term: Neuroma
chpo_term: 神经瘤
id: HP:0030809
hpo_term: Abnormal tongue morphology
chpo_term: 舌头形态异常
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0031023
hpo_term: Multiple mucosal neuromas
chpo_term: 多发性粘膜神经瘤
id: HP:0032346
hpo_term: Cutaneous lichen amyloidosis
chpo_term: 皮肤地衣淀粉样变性
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
Disease (ORPHA:101330):
PCT
Porphyria cutanea tarda

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0031876
hpo_term: Decreased hepcidin level
chpo_term: 铁调素水平降低
id: HP:0032500
hpo_term: Exacerbated by tobacco use
chpo_term: 吸烟加剧恶化
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0200123
hpo_term: Chronic hepatitis
chpo_term: 慢性肝炎
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0033197
hpo_term: Hepatic lobular inflammation
chpo_term: 肝小叶炎症
id: HP:0033196
hpo_term: Portal inflammation
chpo_term: 门脉区炎症
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0010473
hpo_term: Porphyrinuria
chpo_term: 卟啉尿症
id: HP:0010472
hpo_term: Abnormal circulating porphyrin concentration
chpo_term: 血红素生物合成途径异常
id: HP:0032999
hpo_term: Increased fecal porphyrin
chpo_term: 粪卟啉增多
id: HP:0012217
hpo_term: Increased urinary porphobilinogen
chpo_term: 尿液胆色素原增高
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
Disease (ORPHA:320385):
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
SPG49
HSAN due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 49

Associated phenotypes (HPO):
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
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:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
Disease (ORPHA:261243):
Dup(16)(p13.11)
16p13.11 microduplication syndrome
Trisomy 16p13.11

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
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:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:100006):
HCHWA, Dutch type
ABeta amyloidosis, Dutch type
ABetaE22Q amyloidosis
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
Disease (ORPHA:100008):
ACys amyloidosis
CST3-related amyloidosis
Hereditary cystatin C amyloid angiopathy
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
Disease (ORPHA:66633):
Sensorineural deafness-early graying-essential tremor syndrome
Sensorineural hearing loss-early graying-essential tremor syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
Disease (ORPHA:293168):
IAHSP
Infantile-onset ascending hereditary spastic paralysis

Associated phenotypes (HPO):
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002193
hpo_term: Pseudobulbar behavioral symptoms
chpo_term: 假性延髓行为症状
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:66634):
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
Dilated cardiomyopathy with ataxia

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003530
hpo_term: Elevated circulating glutaric acid concentration
chpo_term: 戊二酸血症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0004856
hpo_term: Normochromic microcytic anemia
chpo_term: 小细胞正色素性贫血
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0007146
hpo_term: Bilateral basal ganglia lesions
chpo_term: 双侧基底节病变
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008762
hpo_term: Repetitive compulsive behavior
chpo_term: 重复强迫行为
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
Disease (ORPHA:66637):
DSD
Diaphanospondylodysostosis

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0004599
hpo_term: Absent or minimally ossified vertebral bodies
chpo_term: 椎体缺如或低骨化
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0005640
hpo_term: Abnormal vertebral segmentation and fusion
chpo_term: 椎体分节和融合异常
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
Disease (ORPHA:398147):
Persistent idiopathic facial pain
PIFP
Atypical facial pain
AFP

Associated phenotypes (HPO):
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0025282
hpo_term: Dull
chpo_term: 钝性
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003489
hpo_term: Acute episodes of neuropathic symptoms
chpo_term: 神经性症状急性发作
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0032143
hpo_term: Burning mouth
chpo_term: 灼口
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:320380):
Autosomal recessive spastic paraplegia type 54
SPG54

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0008366
hpo_term: Foot joint contracture
chpo_term: 足关节挛缩
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (ORPHA:168555):
Spondylometaphyseal dysplasia, A4 type

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006603
hpo_term: Flared, irregular rib ends
chpo_term: 喇叭状不规则肋骨端