TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:397685):
Familial isolated prolactin receptor deficiency
Familial hyperprolactinemia

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000134
hpo_term: Female hypogonadism
chpo_term: 女性性腺功能减退症
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012886
hpo_term: Hemorrhagic ovarian cyst
chpo_term: 出血性卵巢囊肿
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
Disease (ORPHA:284160):
8q21.11 microdeletion syndrome
Deletion 8q21.11
Del(8)(q21.11)
Monosomy 8q21.11

Associated phenotypes (HPO):
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0010489
hpo_term: Absent palmar crease
chpo_term: 手掌掌纹缺如
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:521258):
Xq25 microtriplication
Xq25 microduplication syndrome
Dup(X)(q25)

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0008050
hpo_term: Abnormality of the palpebral fissures
chpo_term: 睑裂异常
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:2357):
Bronchogenic cyst

Associated phenotypes (HPO):
id: HP:0100730
hpo_term: Bronchogenic cyst
chpo_term: 支气管囊肿
id: HP:0031983
hpo_term: Abnormal pulmonary thoracic imaging finding
chpo_term: 肺胸部影像学异常
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0032445
hpo_term: Pulmonary cyst
chpo_term: 肺囊肿
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002577
hpo_term: Abnormal stomach morphology
chpo_term: 胃形态异常
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0002699
hpo_term: Abnormal foramen magnum morphology
chpo_term: 枕骨大孔形态异常
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:163703):
FIRES
DESC syndrome
AERRPS
Fever-induced refractory epileptic encephalopathy in school-aged children
Devastating epileptic encephalopathy in school-aged children
Acute encephalitis with refractory repetitive partial seizures
Acute non-herpetic encephalitis with severe refractory status epilepticus
Febrile infection-related epilepsy syndrome

Associated phenotypes (HPO):
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:64734):
ICE syndrome
Iridocorneal endothelial syndrome

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0011489
hpo_term: Abnormal migration of corneal endothelium
chpo_term: 角膜内皮细胞异常迁移
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0007818
hpo_term: Central heterochromia
chpo_term: 中央虹膜异色
id: HP:0007990
hpo_term: Hypoplastic iris stroma
chpo_term: 虹膜基质发育不全
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0011500
hpo_term: Polycoria
chpo_term: 多瞳症
id: HP:0011525
hpo_term: Iris nevus
chpo_term: 虹膜痣
id: HP:0025309
hpo_term: Abnormal pupil shape
chpo_term: 瞳孔形状异常
id: HP:0025358
hpo_term: Uveal ectropion
chpo_term: 葡萄膜外翻
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
Disease (ORPHA:808):
Seckel syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:1021):
Amaurosis-hypertrichosis syndrome

Associated phenotypes (HPO):
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
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:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
Disease (ORPHA:1020):
Early-onset autosomal dominant Alzheimer disease
EOFAD
Familial Alzheimer disease
Early-onset familial autosomal dominant Alzheimer disease

Associated phenotypes (HPO):
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0003791
hpo_term: Deposits immunoreactive to beta-amyloid protein
chpo_term: β-淀粉样蛋白免疫反应性沉积
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
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:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0010525
hpo_term: Finger agnosia
chpo_term: 手指失认
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0030219
hpo_term: Semantic dementia
chpo_term: 语义性痴呆
Disease (ORPHA:93298):
Achondrogenesis, Parenti-Fraccaro type
Achondrogenesis type 1B

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003336
hpo_term: Abnormal enchondral ossification
chpo_term: 软骨内骨化异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:93299):
Achondrogenesis type 1A
Achondrogenesis, Houston-Harris type

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003336
hpo_term: Abnormal enchondral ossification
chpo_term: 软骨内骨化异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006640
hpo_term: Multiple rib fractures
chpo_term: 多发性肋骨骨折
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:64739):
OHSS
Ovarian hyperstimulation syndrome

Associated phenotypes (HPO):
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
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:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0012886
hpo_term: Hemorrhagic ovarian cyst
chpo_term: 出血性卵巢囊肿
id: HP:0030005
hpo_term: Capillary leak
chpo_term: 毛细血管渗漏
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
Disease (ORPHA:93296):
Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type

Associated phenotypes (HPO):
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004605
hpo_term: Absent vertebral body mineralization
chpo_term: 椎体矿化缺如
id: HP:0008788
hpo_term: Delayed pubic bone ossification
chpo_term: 耻骨骨化延迟
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030290
hpo_term: Unossified sacrum
chpo_term: 骶骨未骨化
id: HP:0031096
hpo_term: Delayed vertebral ossification
chpo_term: 椎骨骨化延迟
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:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
Disease (ORPHA:803):
Lou Gehrig disease
Charcot disease
ALS
Amyotrophic lateral sclerosis

Associated phenotypes (HPO):
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0007373
hpo_term: Motor neuron atrophy
chpo_term: 运动神经元萎缩
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008955
hpo_term: Progressive distal muscular atrophy
chpo_term: 进行性远端肌萎缩
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030192
hpo_term: Fatigable weakness of bulbar muscles
chpo_term: 口咽部肌肉疲劳性无力
id: HP:0030195
hpo_term: Fatigable weakness of swallowing muscles
chpo_term: 吞咽肌肉疲劳性无力
id: HP:0030196
hpo_term: Fatigable weakness of respiratory muscles
chpo_term: 呼吸肌疲劳性无力
id: HP:0030878
hpo_term: Abnormality on pulmonary function testing
chpo_term: 肺功能检测结果异常
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0033683
hpo_term: Jaw hyperreflexia
chpo_term: 下颌反射亢进
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
Disease (ORPHA:1028):
Amelo-onycho-hypohidrotic syndrome
Ameloonychohypohidrotic syndrome
Ameloonychohypohidrotic ectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
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:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
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:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常