TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1801):
Kyphomelic dysplasia

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
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:0010561
hpo_term: Undulate ribs
chpo_term: 波浪状肋骨
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:786):
Generalized glucocorticoid resistance syndrome

Associated phenotypes (HPO):
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0030087
hpo_term: Abnormal circulating testosterone concentration
chpo_term: 血液睾酮水平异常
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002292
hpo_term: Frontal balding
chpo_term: 前额秃发
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0010458
hpo_term: Female pseudohermaphroditism
chpo_term: 女性假两性畸形
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
Disease (ORPHA:782):
Axenfeld syndrome
Rieger syndrome
Axenfeld-Rieger syndrome

Associated phenotypes (HPO):
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
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:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:785):
Estrogen resistance syndrome

Associated phenotypes (HPO):
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
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:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0003117
hpo_term: Abnormal circulating hormone concentration
chpo_term: 血液激素水平异常
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0003799
hpo_term: Marked delay in bone age
chpo_term: 骨龄显著延迟
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0010679
hpo_term: Elevated tissue non-specific alkaline phosphatase
chpo_term: 组织非特异性碱性磷酸酶升高
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0030087
hpo_term: Abnormal circulating testosterone concentration
chpo_term: 血液睾酮水平异常
id: HP:0100133
hpo_term: Abnormality of the pubic hair
chpo_term: 阴毛异常
Disease (ORPHA:391457):
HSD10 disease, neonatal type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
HSD10 deficiency, neonatal type
MHBD deficiency, neonatal type

Associated phenotypes (HPO):
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:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0500170
hpo_term: Abnormal concentration of acylcarnitine in the urine
chpo_term: 尿酰基肉碱浓度异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
Disease (ORPHA:566943):
Mueller-Weiss syndrome
Brailsford disease
Mueller-Weiss osteonecrosis of the tarsal bone

Associated phenotypes (HPO):
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0005656
hpo_term: Positional foot deformity
chpo_term: 位置性足畸形
id: HP:0010505
hpo_term: Limitation of movement at ankles
chpo_term: 踝关节运动受限
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0012098
hpo_term: Edema of the dorsum of feet
chpo_term: 足背水肿
id: HP:0030871
hpo_term: Facet joint arthrosis
chpo_term: 小关节炎
id: HP:0100339
hpo_term: Abnormality of the os naviculare pedis
chpo_term: 足舟骨异常
id: HP:0100662
hpo_term: Chondritis
chpo_term: 软骨炎
id: HP:0100925
hpo_term: Sclerosis of foot bone
chpo_term: 足骨硬化
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0005063
hpo_term: Fragmented, irregular epiphyses
chpo_term: 不规则、碎裂的骨骺
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008124
hpo_term: Talipes calcaneovarus
chpo_term: 仰趾内翻足
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0100535
hpo_term: Tibiofibular diastasis
chpo_term: 胫腓分离
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
Disease (ORPHA:565612):
Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV

Associated phenotypes (HPO):
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0031331
hpo_term: Abnormal cardiomyocyte morphology
chpo_term: 心肌细胞形态异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001430
hpo_term: Abnormality of the calf musculature
chpo_term: 小腿肌肉异常
id: HP:0001435
hpo_term: Abnormality of the shoulder girdle musculature
chpo_term: 肩胛带肌肉异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0005145
hpo_term: Coronary artery stenosis
chpo_term: 冠状动脉狭窄
id: HP:0009805
hpo_term: Low-output congestive heart failure
chpo_term: 低输出型充血性心力衰竭
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0032141
hpo_term: Precordial pain
chpo_term: 心前区疼痛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0031684
hpo_term: Renal artery atherosclerosis
chpo_term: 肾动脉粥样硬化
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
Disease (ORPHA:313947):
Trisomy 2q23.1
Dup(2)(q23.1)
2q23.1 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
Disease (ORPHA:206569):
Immune-mediated necrotizing myopathy
IMNM
AINM
Necrotizing autoimmune myositis
NAM
Autoimmune necrotizing myositis

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030200
hpo_term: Fatiguable weakness of proximal limb muscles
chpo_term: 近端肢体肌肉疲劳性无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0033708
hpo_term: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity
chpo_term: 抗-3-羟基-3-甲基戊二酰辅酶A还原酶抗体阳性
id: HP:0033713
hpo_term: Anti-signal recognition particle antibody positivity
chpo_term: 抗信号识别粒子抗体阳性
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
Disease (ORPHA:779):
Reynolds syndrome
Primary biliary cirrhosis and systemic scleroderma

Associated phenotypes (HPO):
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100579
hpo_term: Mucosal telangiectasiae
chpo_term: 粘膜毛细血管扩张
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:776):
Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus

Associated phenotypes (HPO):
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
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:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
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:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
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:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:778):
Rett syndrome

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0003808
hpo_term: Abnormal muscle tone
chpo_term: 肌张力异常
id: HP:0030217
hpo_term: Limb apraxia
chpo_term: 肢体失用症
id: HP:0033850
hpo_term: Coldness
chpo_term: 寒冷
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0031793
hpo_term: Increased serum leptin
chpo_term: 血清瘦素增加
id: HP:0500231
hpo_term: Abnormal CSF pyruvate family amino acid concentration
chpo_term: 脑脊液丙酮酸家族氨基酸浓度异常
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0007064
hpo_term: Progressive language deterioration
chpo_term: 渐进式的语言恶化
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0025430
hpo_term: High-pitched cry
chpo_term: 高调哭声
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
Disease (ORPHA:166002):
Multiple epiphyseal dysplasia due to collagen 9 anomaly

Associated phenotypes (HPO):
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0012770
hpo_term: Reduced arm span
chpo_term: 臂展降低
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003045
hpo_term: Abnormal patella morphology
chpo_term: 髌骨形态异常
id: HP:0003946
hpo_term: Abnormality of the epiphyses of the elbow
chpo_term: 肘部骨骺异常
id: HP:0003999
hpo_term: Abnormality of radial epiphyses
chpo_term: 桡骨骨骺异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006055
hpo_term: Ulnar deviated club hands
chpo_term: 向尺骨偏离的曲棍球棒样手
id: HP:0006190
hpo_term: Radially deviated wrists
chpo_term: 手腕径向偏离
id: HP:0009189
hpo_term: Fragmentation of the metacarpal epiphyses
chpo_term: 掌骨骨骺碎裂
id: HP:0010631
hpo_term: Abnormality of the epiphyses of the feet
chpo_term: 足骨骺异常
id: HP:0010665
hpo_term: Bilateral coxa valga
chpo_term: 双侧髋外翻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病