TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:240085):
PSP-parkinsonism
Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-p

Associated phenotypes (HPO):
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0006921
hpo_term: Axial muscle stiffness
chpo_term: 轴向肌肉僵硬
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
Disease (ORPHA:220493):
JS-O
Joubert syndrome with ocular defect
Joubert syndrome with retinopathy

Associated phenotypes (HPO):
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
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: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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2728):
Blepharophimosis-intellectual disability syndrome, Ohdo type
Ohdo-Madokoro-Sonoda syndrome
BMRS, Ohdo type
Ohdo syndrome
Blepharophimosis syndrome, Ohdo type

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:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001018
hpo_term: Abnormal palmar dermatoglyphics
chpo_term: 手掌皮纹异常
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0012619
hpo_term: Multiple bladder diverticula
chpo_term: 多发性膀胱憩室症
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
Disease (ORPHA:79410):
Localized DEB, pretibial form
DEB-Pt
Localized dystrophic epidermolysis bullosa, pretibial form

Associated phenotypes (HPO):
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:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
Disease (ORPHA:379):
Chronic septic granulomatosis
Chronic granulomatous disease
CGD

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:79411):
Transient bullous dermolysis of the newborn
Self-improving dystrophic epidermolysis bullosa
Self-improving DEB

Associated phenotypes (HPO):
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009723
hpo_term: Abnormality of the subungual region
chpo_term: 甲下组织异常
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
Disease (ORPHA:2720):
Oculocerebral hypopigmentation syndrome, Preus type

Associated phenotypes (HPO):
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0010662
hpo_term: Abnormality of the diencephalon
chpo_term: 间脑异常
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
Disease (ORPHA:90673):
Hypothyroidism due to TSH receptor mutations

Associated phenotypes (HPO):
id: HP:0011789
hpo_term: Impaired sensitivity to thyroid stimulating hormone
chpo_term: 促甲状腺激素受体敏感性缺陷
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0008223
hpo_term: Compensated hypothyroidism
chpo_term: 代偿性甲状腺功能减退症
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0025429
hpo_term: Abnormal cry
chpo_term: 哭声异常
id: HP:0031220
hpo_term: Increased radioactive iodine uptake
chpo_term: 放射性碘摄取增多
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:90674):
Isolated thyrotropin deficiency
Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency

Associated phenotypes (HPO):
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0031208
hpo_term: Increased pituitary glycoprotein hormone alpha subunit level
chpo_term: 垂体糖蛋白α-亚基水平升高
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002690
hpo_term: Large sella turcica
chpo_term: 大蝶鞍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:35858):
Familial megaloblastic anemia
Imerslund-Gräsbeck syndrome
Selective cobalamin malabsorption with proteinuria

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
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:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
id: HP:0200118
hpo_term: Malabsorption of Vitamin B12
chpo_term: 维生素B12吸收不良
id: HP:0410216
hpo_term: Abnormal blood 5-methyltetrahydrofolate level
chpo_term: 血液5-甲基四氢叶酸异常
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0004821
hpo_term: Hypersegmentation of neutrophil nuclei
chpo_term: 中性粒细胞核分叶过度
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0020061
hpo_term: Abnormal hemoglobin concentration
chpo_term: 血红蛋白浓度异常
id: HP:0032566
hpo_term: Oval macrocytosis
chpo_term: 椭圆巨红细胞症
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0030318
hpo_term: Angular cheilitis
chpo_term: 口角炎
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (ORPHA:252054):
Hemangioblastoma

Associated phenotypes (HPO):
id: HP:0010797
hpo_term: Hemangioblastoma
chpo_term: 血管母细胞瘤
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0006880
hpo_term: Cerebellar hemangioblastoma
chpo_term: 小脑血管母细胞瘤
id: HP:0009711
hpo_term: Retinal capillary hemangioma
chpo_term: 视网膜毛细血管瘤
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0030915
hpo_term: Cerebellar edema
chpo_term: 小脑水肿
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009713
hpo_term: Spinal hemangioblastoma
chpo_term: 脊髓血管母细胞瘤
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0030144
hpo_term: Hypoactive bowel sounds
chpo_term: 肠鸣音减弱
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
Disease (ORPHA:99000):
AVMD
Adult-onset foveomacular dystrophy
Adult-onset vitelliform macular dystrophy
AOFMD
Pseudo-Best disease
Gass disease
Adult-onset foveomacular vitelliform dystrophy
Pseudo-vitelliform macular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0007677
hpo_term: Vitelliform-like macular lesions
chpo_term: 卵黄样黄斑病变
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007899
hpo_term: Retinal nonattachment
chpo_term: 视网膜无附着
Disease (ORPHA:231111):
Drug-induced lupus erythematosus
DILE

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
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:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025343
hpo_term: Lupus anticoagulant
chpo_term: 狼疮抗凝剂
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0045073
hpo_term: Serositis
chpo_term: 浆膜腔炎症
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
Disease (ORPHA:357154):
OSMF
Oral submucous fibrosis

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0012182
hpo_term: Oropharyngeal squamous cell carcinoma
chpo_term: 口咽部鳞状细胞癌
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎