TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:284227):
TEMPI syndrome
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001899
hpo_term: Increased hematocrit
chpo_term: 红细胞压积增高
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0004930
hpo_term: Abnormality of the pulmonary vasculature
chpo_term: 肺血管异常
id: HP:0011920
hpo_term: Transudative pleural effusion
chpo_term: 漏出性胸腔积液
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
Disease (ORPHA:254930):
Severe C12ORF65-related combined oxidative phosphorylation defect
Severe C12ORF65-related COXPD
Combined oxidative phosphorylation defect type 7
COXPD7

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
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:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002590
hpo_term: Paralytic ileus
chpo_term: 麻痹性肠梗阻
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
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:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0012747
hpo_term: Abnormal brainstem MRI signal intensity
chpo_term: 脑干核磁共振信号强度异常
id: HP:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
Disease (ORPHA:320401):
Autosomal recessive spastic paraplegia type 44
SPG44

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0012896
hpo_term: Abnormal motor evoked potentials
chpo_term: 运动诱发电位异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
Disease (ORPHA:707):
Yersinia pestis infection
Plague
Y. pestis infection

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0020084
hpo_term: Carbuncle
chpo_term: 痈
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0025043
hpo_term: Enlarged mesenteric lymph node
chpo_term: 肠系膜淋巴结肿大
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0032564
hpo_term: Ileitis
chpo_term: 回肠炎
id: HP:0040181
hpo_term: Chapped lip
chpo_term: 嘴唇皲裂
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
Disease (ORPHA:708):
Peters congenital glaucoma
Peters anomaly

Associated phenotypes (HPO):
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0000523
hpo_term: Subcapsular cataract
chpo_term: 囊膜下白内障
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0011493
hpo_term: Central opacification of the cornea
chpo_term: 角膜的中央混浊
id: HP:0031159
hpo_term: Thinning of Descemet membrane
chpo_term: 后弹力层变薄
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
Disease (ORPHA:703):
Bullous pemphigoid

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0033106
hpo_term: Elevated circulating D-dimer concentration
chpo_term: 循环 D-二聚体浓度增高
id: HP:4000019
hpo_term: Anti-BP230 antibody positivity
chpo_term: 抗BP230抗体阳性
id: HP:4000020
hpo_term: Anti-BP180 antibody positivity
chpo_term: 抗BP180抗体阳性
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:93397):
Brachydactyly, Smorgasbord type
Brachydactyly type A7

Associated phenotypes (HPO):
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008096
hpo_term: Medially deviated second toe
chpo_term: 第二趾内侧向偏斜
id: HP:0009464
hpo_term: Ulnar deviation of the 2nd finger
chpo_term: 第二指向尺侧偏斜
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0009523
hpo_term: Triangular epiphysis of the middle phalanx of the 2nd finger
chpo_term: 第二指中节指骨三角形骨骺
id: HP:0009536
hpo_term: Short 2nd finger
chpo_term: 第二指短
id: HP:0009576
hpo_term: Absent middle phalanx of 2nd finger
chpo_term: 第二指中节指骨缺失
id: HP:0009642
hpo_term: Broad distal phalanx of the thumb
chpo_term: 拇指末节指骨增宽
id: HP:0009700
hpo_term: Finger symphalangism
chpo_term: 指骨骨性融合
id: HP:0010348
hpo_term: Broad phalanges of the 2nd toe
chpo_term: 第二趾趾骨膨大
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100394
hpo_term: Short middle phalanx of the 5th toe
chpo_term: 第五趾中节趾骨短
Disease (ORPHA:293181):
EIMFS
Malignant migrating partial epilepsy of infancy
MMPSI
MMPEI
Epilepsy of infancy with migrating focal seizures
MPEI
Epilepsy with migrating focal seizure in infancy
Malignant migrating partial seizures of infancy
MPSI
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy

Associated phenotypes (HPO):
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0010821
hpo_term: Focal emotional seizure with laughing
chpo_term: 伴大笑的局灶情绪性发作
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0031834
hpo_term: Aortopulmonary collateral arteries
chpo_term: 主肺动脉的侧支动脉
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
Disease (ORPHA:702):
Diffuse familial brain sclerosis
Pelizaeus-Merzbacher brain sclerosis
PMD
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pelizaeus-Merzbacher disease

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
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:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
Disease (ORPHA:705):
Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000359
hpo_term: Abnormality of the inner ear
chpo_term: 内耳异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008586
hpo_term: Hypoplasia of the cochlea
chpo_term: 耳蜗发育不全
id: HP:0011387
hpo_term: Enlarged vestibular aqueduct
chpo_term: 前庭导水管扩大
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
Disease (ORPHA:704):
Pemphigus vulgaris

Associated phenotypes (HPO):
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0034194
hpo_term: Suprabasal cleavage
chpo_term: 基底上层裂隙
id: HP:4000013
hpo_term: Anti-desmoglein-1 antibody positivity
chpo_term: 抗桥粒黏蛋白-1抗体阳性
id: HP:4000014
hpo_term: Anti-desmoglein-3 antibody positivity
chpo_term: 抗桥粒黏蛋白-3抗体阳性
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030351
hpo_term: Urticarial plaque
chpo_term: 荨麻疹性斑块
Disease (ORPHA:93396):
Brachydactyly, Mohr-Wriedt type
Brachydactyly type A2

Associated phenotypes (HPO):
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009372
hpo_term: Type A2 brachydactyly
chpo_term: A2型短指
id: HP:0009568
hpo_term: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
chpo_term: 第二指中节指骨发育不全或发育不良
id: HP:0010038
hpo_term: Short 2nd metacarpal
chpo_term: 第二掌骨短
Disease (ORPHA:701):
Alopecia universalis

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:93399):
Juvenile sialidosis type 2

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003271
hpo_term: Visceromegaly
chpo_term: 内脏肿大
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:700):
Alopecia totalis

Associated phenotypes (HPO):
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0030804
hpo_term: Trachyonychia
chpo_term: 指甲粗糙脆裂
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:93394):
Brachydactyly type A4
Brachymesophalangy II and V
Brachydactyly, Temtamy type

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006239
hpo_term: Shortening of all middle phalanges of the toes
chpo_term: 所有中节趾骨缩短
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合