TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:268940):
Bilateral polymicrogyria

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0006818
hpo_term: 4-layered lissencephaly
chpo_term: 4层无脑回畸形
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0410011
hpo_term: Abnormality of masticatory muscle
chpo_term: 咀嚼肌异常
id: HP:3000047
hpo_term: Abnormal glossopharyngeal nerve morphology
chpo_term: 舌咽神经形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007362
hpo_term: Aplasia/Hypoplasia of the brainstem
chpo_term: 脑干发育缺陷/发育不全
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:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0011099
hpo_term: Spastic hemiparesis
chpo_term: 痉挛性偏瘫
id: HP:0012429
hpo_term: Aplasia/Hypoplasia of the cerebral white matter
chpo_term: 脑白质发育缺陷/发育不全
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:268943):
Unilateral polymicrogyria

Associated phenotypes (HPO):
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:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001312
hpo_term: Giant somatosensory evoked potentials
chpo_term: 巨大的体感诱发电位
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002533
hpo_term: Abnormal posturing
chpo_term: 姿势异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008610
hpo_term: Infantile sensorineural hearing impairment
chpo_term: 婴幼儿感音神经性听力损失
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:2330):
Hemangioma-thrombocytopenia syndrome
Kasabach-Merritt phenomenon

Associated phenotypes (HPO):
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0012329
hpo_term: Tufted angioma
chpo_term: 丛状血管病
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0005520
hpo_term: Chronic disseminated intravascular coagulation
chpo_term: 慢性弥漫性血管内凝血
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0031207
hpo_term: Hepatic hemangioma
chpo_term: 肝血管瘤
id: HP:0100766
hpo_term: Abnormal lymphatic vessel morphology
chpo_term: 淋巴管形态异常
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0040213
hpo_term: Hypopnea
chpo_term: 呼吸浅慢
Disease (ORPHA:466650):
Exercise-induced malignant hyperthermia
Exertional heat stroke

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030850
hpo_term: Abnormal pulse pressure
chpo_term: 脉压异常
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
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:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0012250
hpo_term: ST segment depression
chpo_term: ST段压低
id: HP:0012417
hpo_term: Hypocapnia
chpo_term: 低碳酸血症
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
Disease (ORPHA:268947):
Unilateral focal polymicrogyria

Associated phenotypes (HPO):
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0011099
hpo_term: Spastic hemiparesis
chpo_term: 痉挛性偏瘫
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0100308
hpo_term: Cerebral cortical hemiatrophy
chpo_term: 大脑皮层偏侧萎缩
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0012015
hpo_term: EEG with frontal focal spikes
chpo_term: 脑电图，伴额部局灶棘波
id: HP:0012018
hpo_term: EEG with temporal focal spikes
chpo_term: 脑电图，伴颞区局灶棘波
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0012014
hpo_term: EEG with central focal spikes
chpo_term: 脑电图，伴中央区局灶棘波
id: HP:0012016
hpo_term: EEG with occipital focal spikes
chpo_term: 脑电图，伴枕部局灶棘波。
id: HP:0012017
hpo_term: EEG with parietal focal spikes
chpo_term: 脑电图，伴顶部局灶棘波
Disease (ORPHA:91495):
PFVS
Persistent hyperplastic primary vitreous
Non-syndromic congenital retinal non-attachment
Congenital retinal detachment
PHPV
Persistent fetal vasculature syndrome
NCRNA disease

Associated phenotypes (HPO):
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
id: HP:0012109
hpo_term: Angle closure glaucoma
chpo_term: 闭角型青光眼
id: HP:0030743
hpo_term: Glial remnants anterior to the optic disc
chpo_term: 视盘前的胶质残留
id: HP:0030744
hpo_term: Hyaloid vascular remnant and retrolental mass
chpo_term: 玻璃体血管残余和晶体后团块
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0011885
hpo_term: Hemorrhage of the eye
chpo_term: 眼出血
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
Disease (ORPHA:1008):
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Shokeir syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
Disease (ORPHA:2339):
Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0007439
hpo_term: Generalized keratosis follicularis
chpo_term: 泛发性毛囊角化症
Disease (ORPHA:1006):
Alopecia antibody deficiency
Ipp-Gelfand syndrome

Associated phenotypes (HPO):
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
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:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:2337):
NEPPK, Bothnia type
NEPPK, Bothnian type
Diffuse palmoplantar keratoderma, Bothnian type
Diffuse palmoplantar keratoderma, Bothnia type

Associated phenotypes (HPO):
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
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:0032259
hpo_term: Chronic tinea infection
chpo_term: 慢性癣感染
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
Disease (ORPHA:314473):
Ovarian fibroma

Associated phenotypes (HPO):
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008703
hpo_term: Gonadal calcification
chpo_term: 性腺钙化
id: HP:0010603
hpo_term: Odontogenic keratocysts of the jaw
chpo_term: 颌骨牙源性角化囊肿
id: HP:0010618
hpo_term: Ovarian fibroma
chpo_term: 卵巢纤维瘤
id: HP:0030451
hpo_term: Mesenteric cyst
chpo_term: 肠系膜囊肿
Disease (ORPHA:363400):
Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Associated phenotypes (HPO):
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0025128
hpo_term: Reduced intraabdominal adipose tissue
chpo_term: 腹腔内脂肪组织减少
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002275
hpo_term: Poor motor coordination
chpo_term: 运动不协调
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
Disease (ORPHA:90160):
Lipoatrophia semicircularis
Pressure-induced localized lipoatrophy
Semicircular lipoatrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0011356
hpo_term: Regional abnormality of skin
chpo_term: 皮肤局部异常
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
Disease (ORPHA:325124):
Testicular agenesis
Bilateral anorchia

Associated phenotypes (HPO):
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000042
hpo_term: Absent external genitalia
chpo_term: 外生殖器缺如
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0008716
hpo_term: Urethrovaginal fistula
chpo_term: 尿道阴道瘘
id: HP:0010469
hpo_term: Absent testis
chpo_term: 睾丸缺如
id: HP:0012870
hpo_term: Vanishing testis
chpo_term: 睾丸消失
id: HP:0012872
hpo_term: Abnormal vas deferens morphology
chpo_term: 输精管形态异常
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:2325):
Epidermolysis bullosa simplex with anodontia/hypodontia
EBS with anodontia/hypodontia
Kallin syndrome

Associated phenotypes (HPO):
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:90158):
Idiopathic localized lipodystrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0012344
hpo_term: Morphea
chpo_term: 局限性硬皮病
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
Disease (ORPHA:90159):
Panniculitis-induced localized lipodystrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0010701
hpo_term: Abnormal immunoglobulin level
chpo_term: 免疫球蛋白水平异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎