TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:73223):
Global developmental delay-osteopenia-ectodermal defect syndrome

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003127
hpo_term: Hypocalciuria
chpo_term: 低钙尿症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007387
hpo_term: Hypoplastic sweat glands
chpo_term: 汗腺发育不全
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0011125
hpo_term: Abnormality of dermal melanosomes
chpo_term: 真皮黑素小体异常
id: HP:0011368
hpo_term: Epidermal thickening
chpo_term: 表皮增厚
id: HP:0025080
hpo_term: Orthokeratotic hyperkeratosis
chpo_term: 正角化过度
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001593
hpo_term: Maxillary lateral incisor microdontia
chpo_term: 上颌侧切牙小牙畸形
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0011065
hpo_term: Conical incisor
chpo_term: 锥状切牙
id: HP:0011074
hpo_term: Localized hypoplasia of dental enamel
chpo_term: 局部牙釉质发育不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012365
hpo_term: Hypophosphaturia
chpo_term: 低磷酸盐尿
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0040022
hpo_term: Clinodactyly of the 2nd finger
chpo_term: 第二指弯曲
id: HP:0040025
hpo_term: Clinodactyly of the 4th finger
chpo_term: 第四指弯曲
Disease (ORPHA:79):
Congenital alpha2-antiplasmin deficiency

Associated phenotypes (HPO):
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0012151
hpo_term: Hemothorax
chpo_term: 血胸
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0040247
hpo_term: Reduced euglobulin clot lysis time
chpo_term: 优球蛋白凝块溶解时间减少
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0011884
hpo_term: Abnormal umbilical stump bleeding
chpo_term: 异常脐带根部出血
Disease (ORPHA:401785):
SPG62
Autosomal recessive spastic paraplegia type 62

Associated phenotypes (HPO):
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
Disease (ORPHA:95494):
Combined pituitary hormone deficiencies, genetic forms
Multiple pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism

Associated phenotypes (HPO):
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009888
hpo_term: Abnormality of secondary sexual hair
chpo_term: 第二性征毛发异常
id: HP:0010311
hpo_term: Aplasia/Hypoplasia of the breasts
chpo_term: 乳房发育不全/不良
id: HP:0010626
hpo_term: Anterior pituitary agenesis
chpo_term: 垂体前叶缺失
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000839
hpo_term: Pituitary dwarfism
chpo_term: 垂体性侏儒症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0005625
hpo_term: Osteoporosis of vertebrae
chpo_term: 椎骨骨质疏松症
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
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:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0004637
hpo_term: Decreased cervical spine mobility
chpo_term: 颈椎活动度下降
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0011297
hpo_term: Abnormal digit morphology
chpo_term: 手指/脚趾形态异常
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0012731
hpo_term: Ectopic anterior pituitary gland
chpo_term: 异位垂体前叶腺
id: HP:0100842
hpo_term: Septo-optic dysplasia
chpo_term: 透明隔-视神经发育不良
Disease (ORPHA:74):
Angiostrongyliasis

Associated phenotypes (HPO):
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0011450
hpo_term: Unusual CNS infection
chpo_term: 不寻常的中枢神经系统感染
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0032064
hpo_term: Gastrointestinal eosinophilia
chpo_term: 胃肠道嗜酸性粒细胞增多症
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0032336
hpo_term: Increased circulating specific IgE antibody
chpo_term: 血液特异性IgE抗体增多
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0100963
hpo_term: Hyperesthesia
chpo_term: 感觉过敏
Disease (ORPHA:85201):
Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:85202):
Keutel syndrome
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

Associated phenotypes (HPO):
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
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:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
id: HP:0100682
hpo_term: Tracheal atresia
chpo_term: 气管闭锁
Disease (ORPHA:85203):
Syndactyly-preaxial polydactyly-sternal deformity syndrome
ACRP syndrome
Acropectoral syndrome

Associated phenotypes (HPO):
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:3217):
Hearing loss-small bowel diverticulosis-neuropathy syndrome
Groll-Hirschowitz syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
Disease (ORPHA:596448):
IgG4-related systemic disease

Associated phenotypes (HPO):
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0005200
hpo_term: Retroperitoneal fibrosis
chpo_term: 腹膜后纤维化
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0030992
hpo_term: Abnormal pancreatic duct morphology
chpo_term: 胰管形态学异常
id: HP:0031281
hpo_term: Sialadenitis
chpo_term: 涎腺炎
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005339
hpo_term: Abnormality of complement system
chpo_term: 补体系统异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0032229
hpo_term: Perinuclear antineutrophil antibody positivity
chpo_term: 核周抗中性粒细胞抗体阳性
id: HP:0032235
hpo_term: Anti-La/SS-B antibody positivity
chpo_term: 抗 La/SS-B 抗体阳性
id: HP:0033028
hpo_term: Anti-U1 ribonucleoprotein antibody positivity
chpo_term: 抗U1核糖蛋白抗体阳性
id: HP:0033040
hpo_term: Anti-Sm antibody positivity
chpo_term: 抗Sm抗体阳性
id: HP:0033555
hpo_term: Anti-Ro/SS-A antibody positivity
chpo_term: 抗 Ro/SS-A 抗体阳性
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0100778
hpo_term: Cryoglobulinemia
chpo_term: 冷球蛋白血症
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
Disease (ORPHA:3218):
Deafness-epiphyseal dysplasia-short stature syndrome
Hearing loss-epiphyseal dysplasia-short stature syndrome
Chitty-Hall-Baraitser syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006499
hpo_term: Abnormality of femoral epiphysis
chpo_term: 股骨骨骺异常
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
Disease (ORPHA:3219):
Deafness-skeletal dysplasia-coarse face with full lips syndrome
Hearing loss-skeletal dysplasia-lip granuloma syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome
Hearing loss-skeletal dysplasia-coarse face with full lips syndrome
Fountain syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
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:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:99845):
Genetic recurrent myoglobinuria

Associated phenotypes (HPO):
id: HP:0003652
hpo_term: Recurrent myoglobinuria
chpo_term: 复发性肌红蛋白尿
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0003558
hpo_term: Viral infection-induced rhabdomyolysis
chpo_term: 病毒感染诱导的横纹肌瘤
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0010969
hpo_term: Abnormality of glycolipid metabolism
chpo_term: 糖脂代谢异常
id: HP:0012544
hpo_term: Elevated aldolase level
chpo_term: 醛缩酶水平升高
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030195
hpo_term: Fatigable weakness of swallowing muscles
chpo_term: 吞咽肌肉疲劳性无力
id: HP:0045037
hpo_term: Abnormality of jaw muscles
chpo_term: 下颌肌肉异常
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血