TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2494):
Ménétrier disease
Hypoproteinemic hypertrophic gastropathy
Giant hypertrophic gastritis

Associated phenotypes (HPO):
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0005246
hpo_term: Giant hypertrophic gastritis
chpo_term: 巨大肥厚性胃炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 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:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0005202
hpo_term: Helicobacter pylori infection
chpo_term: 幽门螺杆菌感染
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
Disease (ORPHA:1150):
Illum syndrome
Arthrogryposis multiplex congenita-whistling face syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000346
hpo_term: Whistling appearance
chpo_term: 吹口哨面容
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:2481):
Neurocutaneous melanosis
Neurocutaneous melanocytosis
NCM

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0012470
hpo_term: Setting-sun eye phenomenon
chpo_term: 落日眼现象
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
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:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0005603
hpo_term: Numerous congenital melanocytic nevi
chpo_term: 多发性先天性色素痣
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
Disease (ORPHA:87503):
Transgrediens palmoplantar keratoderma of Siemens
Keratosis palmoplantaris transgrediens of Siemens
Mal de Meleda
Meleda disease

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0007404
hpo_term: Nonepidermolytic palmoplantar hyperkeratosis
chpo_term: 非表皮松解性掌跖角化症
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001218
hpo_term: Autoamputation
chpo_term: 自发性肢体离断
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0007390
hpo_term: Hyperkeratosis with erythema
chpo_term: 红斑角化症
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0031452
hpo_term: Lichenoid skin lesion
chpo_term: 皮肤苔藓样变
Disease (ORPHA:284271):
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
SCAR11
Autosomal recessive spinocerebellar ataxia type 11

Associated phenotypes (HPO):
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
Disease (ORPHA:140952):
Syndactyly-telecanthus-anogenital and renal malformations syndrome
STAR syndrome

Associated phenotypes (HPO):
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
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:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
Disease (ORPHA:435651):
CIDEC-related FPLD
FPLD5
CIDEC-related familial partial lipodystrophy

Associated phenotypes (HPO):
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009017
hpo_term: Loss of gluteal subcutaneous adipose tissue
chpo_term: 臀部皮下脂肪组织丢失
id: HP:0030685
hpo_term: Decreased adiponectin level
chpo_term: 脂联素水平降低
id: HP:0000292
hpo_term: Loss of facial adipose tissue
chpo_term: 面部脂肪组织丢失
Disease (ORPHA:2489):
Upper limb defect-eye and ear abnormalities syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009739
hpo_term: Hypoplasia of the antihelix
chpo_term: 对耳轮发育不全
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
Disease (ORPHA:2487):
Fried-Goldberg-Mundel syndrome
Lower limb malformation-hypospadias syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:411696):
Proton-pump inhibitor-responsive esophageal eosinophilia
PPIRee
PPI-responsive esophageal eosinophilia
PPI-REE

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0030914
hpo_term: Abnormal peristalsis
chpo_term: （消化道）蠕动异常
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0004789
hpo_term: Lactose intolerance
chpo_term: 乳糖不耐受
id: HP:0410328
hpo_term: Egg allergy
chpo_term: 鸡蛋过敏
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0500095
hpo_term: Food-induced anaphylaxis
chpo_term: 食物诱发的过敏反应
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0410227
hpo_term: Increased anti-food allergen IgE antibody level
chpo_term: 抗食物过敏原IgE抗体升高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0031984
hpo_term: Esophageal food impaction
chpo_term: 食道食物嵌顿
id: HP:0031985
hpo_term: Esophageal exudate
chpo_term: 食道渗出液
id: HP:0031858
hpo_term: Esophageal furrows
chpo_term: 食管沟
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0410152
hpo_term: Eosinophilic microabscess formation in the esophagus
chpo_term: 食道嗜酸性微脓肿形成
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
Disease (ORPHA:1154):
Distal arthrogryposis type IIB
Distal arthrogryposis type 5
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Oculomelic amyoplasia
Distal arthrogryposis with ophthalmoplegia

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0010489
hpo_term: Absent palmar crease
chpo_term: 手掌掌纹缺如
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
Disease (ORPHA:2485):
Melorheostosis

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011987
hpo_term: Ectopic ossification in muscle tissue
chpo_term: 肌肉组织异位性骨化
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
Disease (ORPHA:2484):
Melnick-Needles osteodysplasty
Melnick-Needles syndrome

Associated phenotypes (HPO):
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002879
hpo_term: Anisospondyly
chpo_term: 椎体大小不等
id: HP:0003172
hpo_term: Abnormality of the pubic bone
chpo_term: 耻骨异常
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
Disease (ORPHA:2483):
Melkersson-Rosenthal syndrome

Associated phenotypes (HPO):
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010471
hpo_term: Oligosacchariduria
chpo_term: 寡糖尿症
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
Disease (ORPHA:50251):
Pleural mesothelioma

Associated phenotypes (HPO):
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0007011
hpo_term: Fourth cranial nerve palsy
chpo_term: 第四组颅神经麻痹
id: HP:0011025
hpo_term: Abnormal cardiovascular system physiology
chpo_term: 心血管系统生理异常
id: HP:0031041
hpo_term: Obstruction of the superior vena cava
chpo_term: 上腔静脉梗阻
Disease (ORPHA:284289):
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
Adult-onset autosomal recessive cerebellar ataxia

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0010545
hpo_term: Downbeat nystagmus
chpo_term: 下击型眼球震颤
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0000503
hpo_term: Tortuosity of conjunctival vessels
chpo_term: 结膜血管迂曲
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤