TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:251009):
UPD(1)mat
Maternal uniparental disomy of chromosome 1 syndrome

Associated phenotypes (HPO):
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
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:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:42665):
Hypopigmentation-deafness syndrome
Tietz syndrome
Hypopigmentation-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
Disease (ORPHA:398189):
Focal facial preauricular dysplasia
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial dermal dysplasia type IV

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011124
hpo_term: Abnormal epidermal morphology
chpo_term: 表皮形态异常
id: HP:0025167
hpo_term: Fragmented elastic fibers in the dermis
chpo_term: 真皮弹性纤维碎裂
id: HP:0100494
hpo_term: Abnormal mast cell morphology
chpo_term: 肥大细胞形态异常
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0004426
hpo_term: Abnormal cheek morphology
chpo_term: 面颊形态异常
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:3000019
hpo_term: Abnormal buccal mucosa morphology
chpo_term: 颊粘膜形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
Disease (ORPHA:251004):
Paternal uniparental disomy of chromosome 1 syndrome
UPD(1)pat

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004802
hpo_term: Episodic hemolytic anemia
chpo_term: 阵发性溶血性贫血
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0030612
hpo_term: Abnormal retinal morphology on macular OCT
chpo_term: OCT 测量法黄斑区视网膜形态异常
Disease (ORPHA:1901):
Dermatosparaxis EDS
Human dermatosparaxis EDS VIIC
dEDS
Dermatosparaxis Ehlers-Danlos syndrome
Ehlers-Danlos syndrome type 7C

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
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:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001001
hpo_term: Abnormality of subcutaneous fat tissue
chpo_term: 皮下脂肪组织异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
Disease (ORPHA:95159):
HEP
Hepatoerythropoietic porphyria

Associated phenotypes (HPO):
id: HP:0040318
hpo_term: Red urine
chpo_term: 红色尿液
id: HP:0010472
hpo_term: Abnormal circulating porphyrin concentration
chpo_term: 血红素生物合成途径异常
id: HP:0032999
hpo_term: Increased fecal porphyrin
chpo_term: 粪卟啉增多
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0007537
hpo_term: Severe photosensitivity
chpo_term: 重度光敏性
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0040320
hpo_term: Red-brown urine
chpo_term: 红棕色尿液
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0030756
hpo_term: Erythrodontia
chpo_term: 红牙病
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0500046
hpo_term: Seborrhoeic blepharitis
chpo_term: 脂溢性睑缘炎
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001560
hpo_term: Abnormality of the amniotic fluid
chpo_term: 羊水异常
id: HP:0040322
hpo_term: Purple urine
chpo_term: 紫色尿液
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
Disease (ORPHA:28378):
Tyrosinemia due to TAT deficiency
Tyrosinemia type II
Tyrosinemia type 2
Richner-Hanhart syndrome
Oculocutaneous tyrosinemia
Tyrosinemia due to tyrosine aminotransferase deficiency
Keratosis palmoplantaris-corneal dystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0004337
hpo_term: Abnormality of amino acid metabolism
chpo_term: 氨基酸代谢异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
Disease (ORPHA:684):
Paramyotonia congenita
Paramyotonia congenita of Von Eulenburg

Associated phenotypes (HPO):
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0004875
hpo_term: Neonatal inspiratory stridor
chpo_term: 新生儿吸气性喘鸣
id: HP:0010548
hpo_term: Percussion myotonia
chpo_term: 敲击性肌强直
id: HP:0011809
hpo_term: Paradoxical myotonia
chpo_term: 反常性肌强直
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012892
hpo_term: Facial muscle hypertrophy
chpo_term: 面部肌肉肥大
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0012900
hpo_term: Myotonia of the face
chpo_term: 面部肌强直
id: HP:0012901
hpo_term: Myotonia of the jaw
chpo_term: 下颌肌强直
id: HP:0012903
hpo_term: Myotonia of the upper limb
chpo_term: 上肢肌强直
id: HP:0012904
hpo_term: Cold-sensitive myotonia
chpo_term: 冷敏性肌强直
id: HP:0031372
hpo_term: Cold paresis
chpo_term: 冷性轻瘫
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0008153
hpo_term: Periodic hypokalemic paresis
chpo_term: 低钾性周期性麻痹
id: HP:0011042
hpo_term: Abnormal blood potassium concentration
chpo_term: 钾离子稳态平衡异常
Disease (ORPHA:75563):
XLSA
X-linked sideroblastic anemia

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
Disease (ORPHA:683):
Progressive supranuclear palsy
PSP syndrome

Associated phenotypes (HPO):
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000623
hpo_term: Supranuclear ophthalmoplegia
chpo_term: 核上性眼肌麻痹
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
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:0012535
hpo_term: Abnormal synaptic transmission
chpo_term: 突触传递异常
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
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:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
Disease (ORPHA:424107):
Congenital myopathy with myasthenic-like onset

Associated phenotypes (HPO):
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0040191
hpo_term: Rectus femoris muscle atrophy
chpo_term: 股四头肌肌肉萎缩
Disease (ORPHA:682):
Familial hyperPP
Adynamia episodica hereditaria
Hyperkalemic PP
Familial hyperkalemic periodic paralysis
HyperPP
HyperKPP
Hyperkalemic periodic paralysis
HYPP
Primary hyperkalemic periodic paralysis
Primary hyperPP
Gamstorp disease
Gamstorp episodic adynamy

Associated phenotypes (HPO):
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0003752
hpo_term: Episodic flaccid weakness
chpo_term: 发作性弛缓无力
id: HP:0007215
hpo_term: Periodic hyperkalemic paralysis
chpo_term: 高钾性周期性麻痹
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:261279):
Monosomy 17q23.1q23.2
17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)

Associated phenotypes (HPO):
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
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:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0003279
hpo_term: Coxa magna
chpo_term: 髋膨大
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: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:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
Disease (ORPHA:681):
Hypokalemic periodic paralysis
Westphall disease

Associated phenotypes (HPO):
id: HP:0008153
hpo_term: Periodic hypokalemic paresis
chpo_term: 低钾性周期性麻痹
id: HP:0012726
hpo_term: Episodic hypokalemia
chpo_term: 阵发性低钾血症
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003752
hpo_term: Episodic flaccid weakness
chpo_term: 发作性弛缓无力
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003694
hpo_term: Late-onset proximal muscle weakness
chpo_term: 晚发性近端肌无力
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0002203
hpo_term: Respiratory paralysis
chpo_term: 呼吸肌麻痹
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0030196
hpo_term: Fatigable weakness of respiratory muscles
chpo_term: 呼吸肌疲劳性无力
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损