TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:548):
Leprosy

Associated phenotypes (HPO):
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010835
hpo_term: Dissociated sensory loss
chpo_term: 分离性感觉缺失
id: HP:0012181
hpo_term: Entrapment neuropathy
chpo_term: 压迫性神经病
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0012645
hpo_term: Enlarged peripheral nerve
chpo_term: 周围神经增粗
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0034102
hpo_term: Anti-sphingolipid antibody positivity
chpo_term: 抗鞘磷脂抗体阳性
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001026
hpo_term: Penetrating foot ulcers
chpo_term: 足部穿通性溃疡
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002087
hpo_term: Abnormality of the upper respiratory tract
chpo_term: 上呼吸道异常
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0010827
hpo_term: Abnormality of the seventh cranial nerve
chpo_term: 第七对颅神经异常
id: HP:0011334
hpo_term: Facial shape deformation
chpo_term: 脸型异常
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
id: HP:0011821
hpo_term: Abnormal facial skeleton morphology
chpo_term: 面部骨骼形态异常
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012500
hpo_term: Verrucous papule
chpo_term: 疣状丘疹
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0030003
hpo_term: Paralytic lagophthalmos
chpo_term: 麻痹性睑裂闭合不全
id: HP:0030351
hpo_term: Urticarial plaque
chpo_term: 荨麻疹性斑块
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0001101
hpo_term: Iritis
chpo_term: 虹膜炎
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0032404
hpo_term: Testicular mass
chpo_term: 睾丸肿块
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
Disease (ORPHA:545):
Follicular lymphoma

Associated phenotypes (HPO):
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:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0033823
hpo_term: Mediastinal mass
chpo_term: 纵膈肿块
Disease (ORPHA:208999):
Paraneoplastic sensory ganglionopathy
Paraneoplastic sensory neuronopathy

Associated phenotypes (HPO):
id: HP:5000016
hpo_term: Anti-Hu antibody positivity
chpo_term: 抗Hu抗体阳性
Disease (ORPHA:99657):
Primary dystonia, DYT2 type
DYT2

Associated phenotypes (HPO):
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
Disease (ORPHA:540):
Familial hemophagocytic lymphohistiocytosis
Familial HLH

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002958
hpo_term: Immune dysregulation
chpo_term: 免疫失调
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011112
hpo_term: Abnormality of serum cytokine level
chpo_term: 血清细胞因子水平异常
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0012177
hpo_term: Abnormal natural killer cell physiology
chpo_term: 自然杀伤细胞生理功能异常
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
Disease (ORPHA:543):
Small non-cleaved cell lymphoma
Burkitt lymphoma

Associated phenotypes (HPO):
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0100649
hpo_term: Neoplasm of the oral cavity
chpo_term: 口腔肿瘤
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
Disease (ORPHA:254881):
MSCAE
Spinocerebellar ataxia with epilepsy
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE

Associated phenotypes (HPO):
id: HP:0000182
hpo_term: Movement abnormality of the tongue
chpo_term: 舌头运动异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0012692
hpo_term: Focal T2 hyperintense thalamic lesion
chpo_term: 丘脑局灶性T2高信号病变
id: HP:0025722
hpo_term: Cerebral infarct
chpo_term: 脑梗死
id: HP:0033720
hpo_term: EEG with occipital epileptiform discharges
chpo_term: 枕叶癫痫样放电的脑电图
Disease (ORPHA:364055):
EOSRD
SECORD
Early-onset severe retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Associated phenotypes (HPO):
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0012230
hpo_term: Rhegmatogenous retinal detachment
chpo_term: 孔源性视网膜脱离
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0007793
hpo_term: Granular macular appearance
chpo_term: 斑点状黄斑色素异常
Disease (ORPHA:254886):
Autosomal recessive progressive external ophthalmoplegia
arPEO

Associated phenotypes (HPO):
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:264200):
Monosomy 14q22q23
Monosomy 14q22-q23
14q22q23 microdeletion syndrome
14q22-q23 microdeletion syndrome
Del(14)(q22q23)

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
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:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012521
hpo_term: Optic nerve aplasia
chpo_term: 视神经发育缺陷
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
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:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
Disease (ORPHA:496756):
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Associated phenotypes (HPO):
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0012678
hpo_term: Iron accumulation in substantia nigra
chpo_term: 黑质铁累积
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (ORPHA:500545):
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Associated phenotypes (HPO):
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005949
hpo_term: Apneic episodes in infancy
chpo_term: 婴儿期呼吸暂停
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:538):
Lymphangioleiomyomatosis
LAM

Associated phenotypes (HPO):
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0009726
hpo_term: Renal neoplasm
chpo_term: 肾肿瘤
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0011852
hpo_term: Chylopericardium
chpo_term: 乳糜心包
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0100804
hpo_term: Ungual fibroma
chpo_term: 甲纤维瘤