TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1464):
Double inlet atrioventricular connection
Univentricular heart

Associated phenotypes (HPO):
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0034350
hpo_term: Valvular pulmonary stenosis
chpo_term: 肺动脉瓣狭窄
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
Disease (ORPHA:1461):
Superoinferior ventricles
Twisted atrioventricular connections
Criss-cross heart
Criss-cross atrioventricular relationships

Associated phenotypes (HPO):
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
Disease (ORPHA:324262):
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0011347
hpo_term: Abnormality of ocular abduction
chpo_term: 眼球外展异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
Disease (ORPHA:2791):
Globodontia
Otodental syndrome
Otodental dysplasia

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0006479
hpo_term: Abnormal dental pulp morphology
chpo_term: 牙髓形态异常
id: HP:0011070
hpo_term: Abnormal molar morphology
chpo_term: 大臼齿形态异常
id: HP:0011078
hpo_term: Abnormality of canine
chpo_term: 犬齿异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000326
hpo_term: Abnormality of the maxilla
chpo_term: 上颌骨异常
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0003771
hpo_term: Pulp calcification
chpo_term: 牙髓钙化
id: HP:0011051
hpo_term: Agenesis of premolar
chpo_term: 前磨牙发育不全
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0011068
hpo_term: Odontoma
chpo_term: 牙瘤
id: HP:0031353
hpo_term: Otitis media with effusion
chpo_term: 渗出性中耳炎
id: HP:0100719
hpo_term: Lens coloboma
chpo_term: 晶状体缺损
Disease (ORPHA:2792):
Otofaciocervical syndrome
Fara-Chlupackova syndrome
OFC syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
Disease (ORPHA:2793):
Otoonychoperoneal syndrome

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
Disease (ORPHA:464453):
Drug-induced methemoglobinemia
Acquired methemoglobinemia

Associated phenotypes (HPO):
id: HP:0012119
hpo_term: Methemoglobinemia
chpo_term: 高铁血红蛋白血症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
Disease (ORPHA:2795):
Fowler-Christmas-Chapple syndrome
Fowler urethral sphincter dysfunction syndrome
Fowler syndrome

Associated phenotypes (HPO):
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
Disease (ORPHA:2796):
Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010541
hpo_term: Cutis gyrata of scalp
chpo_term: 头皮回状纹
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:2798):
Kuzniecky syndrome
Pachygyria-intellectual disability-epilepsy syndrome

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:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:177910):
Prader-Willi syndrome due to imprinting mutation

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0004039
hpo_term: Abnormal ulnar metaphysis morphology
chpo_term: 尺骨干骺端形态异常
id: HP:0004283
hpo_term: Narrow palm
chpo_term: 手掌狭窄
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:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
Disease (ORPHA:438178):
PFCRD
FAR1 deficiency
Peroxisomal fatty acyl-CoA reductase 1 disorder
Fatty acyl-CoA reductase 1 deficiency

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
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:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
Disease (ORPHA:2788):
Osteoporosis-pseudoglioma syndrome
OPPG
Ocular form of osteogenesis imperfecta

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0006367
hpo_term: Crumpled long bones
chpo_term: 褶皱性长骨
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0007898
hpo_term: Exudative retinopathy
chpo_term: 渗出性视网膜病变
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012052
hpo_term: Low serum calcitriol
chpo_term: 低血清骨化三醇（1,25-二羟基胆钙化醇）
id: HP:0012109
hpo_term: Angle closure glaucoma
chpo_term: 闭角型青光眼
id: HP:0030490
hpo_term: Exudative vitreoretinopathy
chpo_term: 渗出性玻璃体视网膜病变
id: HP:0040069
hpo_term: Abnormal lower limb bone morphology
chpo_term: 下肢骨形态异常
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0003366
hpo_term: Abnormal femoral neck/head morphology
chpo_term: 股骨颈/头形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0030551
hpo_term: Visual acuity light perception with projection
chpo_term: 在投射光的情况下视力具有光感
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0008236
hpo_term: Isosexual precocious puberty
chpo_term: 同性性早熟
id: HP:0030515
hpo_term: Moderately reduced visual acuity
chpo_term: 中度视力降低
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2789):
Lehman syndrome
Lateral meningocele syndrome

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
Disease (ORPHA:1453):
Wallis-Zieff-Goldblatt syndrome
Cleidorhizomelic syndrome
Rhizomelic shortness with clavicular defect

Associated phenotypes (HPO):
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
Disease (ORPHA:1451):
Prieur-Griscelli syndrome
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Chronic infantile neurological cutaneous and articular syndrome
CINCA syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
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:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001911
hpo_term: Abnormal granulocyte morphology
chpo_term: 粒细胞形态异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100654
hpo_term: Retrobulbar optic neuritis
chpo_term: 球后视神经炎
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹