TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:615919):
Ataxia-telangiectasia-like disorder 2
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2

Associated phenotypes (HPO):
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034697
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0031087
hpo_term: Absent pubertal growth spurt
chpo_term: 缺乏青春期生长突增
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
Disease (OMIM:269600):
SEA-BLUE HISTIOCYTE DISEASE
Sea-Blue histiocyte disease

Associated phenotypes (HPO):
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0001982
hpo_term: Sea-blue histiocytosis
chpo_term: 海蓝色组织细胞增多症
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
Disease (OMIM:614434):
CUTIS LAXA, AUTOSOMAL DOMINANT 2
Cutis laxa, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
Disease (OMIM:619110):
Arthrogryposis, distal, type 1C
ARTHROGRYPOSIS, DISTAL, TYPE 1C

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0006070
hpo_term: Metacarpophalangeal joint contracture
chpo_term: 掌指关节挛缩
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0003044
hpo_term: Shoulder flexion contracture
chpo_term: 肩关节屈曲挛缩
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0033357
hpo_term: Limited head rotation
chpo_term: 转头受限
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000205
hpo_term: Pursed lips
chpo_term: 撅起的嘴唇
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000466
hpo_term: Limited neck range of motion
chpo_term: 颈部运动范围受限
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:224700):
EBSTEIN ANOMALY
Ebstein anomaly

Associated phenotypes (HPO):
id: HP:0025478
hpo_term: Atrial standstill
chpo_term: 心房静止
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0004309
hpo_term: Ventricular preexcitation
chpo_term: 心室预激
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0010316
hpo_term: Ebstein anomaly of the tricuspid valve
chpo_term: 三尖瓣Ebstein畸形
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:601039):
Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
Disease (OMIM:617883):
Fanconi anemia, complementation group S
FANCONI ANEMIA, COMPLEMENTATION GROUP S

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0025318
hpo_term: Ovarian carcinoma
chpo_term: 卵巢癌
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
Disease (OMIM:609465):
Al-Gazali syndrome
AL-GAZALI SYNDROME

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0030884
hpo_term: Gastrojejunal tube feeding in infancy
chpo_term: 婴儿胃空肠管饲
id: HP:0005037
hpo_term: Proximal radio-ulnar synostosis
chpo_term: 近端桡尺骨性愈合
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003865
hpo_term: Bowed humerus
chpo_term: 肱骨弯曲
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:220200):
Dandy-Walker syndrome
DANDY-WALKER SYNDROME

Associated phenotypes (HPO):
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
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:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000931
hpo_term: Thinning and bulging of the posterior fossa bones
chpo_term: 后颅窝骨骼变薄并突起
id: HP:0000933
hpo_term: Posterior fossa cyst at the fourth ventricle
chpo_term: 后颅窝第四脑室囊肿
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000930
hpo_term: Elevated imprint of the transverse sinuses
chpo_term: 横窦压迹抬高
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
Disease (OMIM:266255):
Radioulnar synostosis, unilateral, with developmental retardationand hypotonia
RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA

Associated phenotypes (HPO):
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
Disease (OMIM:113100):
Brachydactyly, type C
BRACHYDACTYLY, TYPE C

Associated phenotypes (HPO):
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0009461
hpo_term: Short 3rd finger
chpo_term: 第三指短
id: HP:0009463
hpo_term: Ulnar deviation of the 3rd finger
chpo_term: 第三指向尺侧偏斜
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0009464
hpo_term: Ulnar deviation of the 2nd finger
chpo_term: 第二指向尺侧偏斜
id: HP:0009324
hpo_term: Enlarged epiphysis of the middle phalanx of the 3rd finger
chpo_term: 第三指中节指骨骨骺膨大
id: HP:0009587
hpo_term: Triangular shaped proximal phalanx of the 2nd finger
chpo_term: 第二指三角形近节指骨
id: HP:0009523
hpo_term: Triangular epiphysis of the middle phalanx of the 2nd finger
chpo_term: 第二指中节指骨三角形骨骺
id: HP:0009349
hpo_term: Enlarged epiphysis of the proximal phalanx of the 3rd finger
chpo_term: 第三指近节指骨骨骺膨大
id: HP:0009527
hpo_term: Enlarged epiphysis of the proximal phalanx of the 2nd finger
chpo_term: 第二指近节指骨骨骺膨大
id: HP:0011929
hpo_term: Hypersegmentation of proximal phalanx of third finger
chpo_term: 第三指近节指骨基部额外分节
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0003067
hpo_term: Madelung deformity
chpo_term: 马德隆畸形
id: HP:0010259
hpo_term: Cone-shaped epiphyses of the middle phalanges of the hand
chpo_term: 中节指骨锥形骨骺
id: HP:0009331
hpo_term: Triangular epiphysis of the middle phalanx of the 3rd finger
chpo_term: 第三指中节指骨三角形骨骺
id: HP:0009495
hpo_term: Pseudoepiphysis of the 2nd finger
chpo_term: 第二指假骨骺
id: HP:0009575
hpo_term: Triangular shaped middle phalanx of the 2nd finger
chpo_term: 第二指三角形中节指骨
id: HP:0032078
hpo_term: Angel-shaped phalanx
chpo_term: 天使形指骨
id: HP:0009456
hpo_term: Triangular shaped proximal phalanx of the 3rd finger
chpo_term: 第三指三角形近节指骨
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0009356
hpo_term: Triangular epiphysis of the proximal phalanx of the 3rd finger
chpo_term: 第三指近节指骨三角形骨骺
id: HP:0009436
hpo_term: Triangular shaped middle phalanx of the 3rd finger
chpo_term: 第三指三角形中节指骨
id: HP:0009534
hpo_term: Triangular epiphysis of the proximal phalanx of the 2nd finger
chpo_term: 第二指近节指骨三角形骨骺
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009536
hpo_term: Short 2nd finger
chpo_term: 第二指短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009417
hpo_term: Pseudoepiphyses of the 3rd finger
chpo_term: 第三指假骨骺
id: HP:0006206
hpo_term: Hypersegmentation of proximal phalanx of second finger
chpo_term: 第二指近节指骨分节过多
id: HP:0009516
hpo_term: Enlarged epiphysis of the middle phalanx of the 2nd finger
chpo_term: 第二指中节指骨骨骺膨大
id: HP:0009439
hpo_term: Short middle phalanx of the 3rd finger
chpo_term: 第三指中节指骨短
Disease (OMIM:615058):
Night blindness, congenital stationary, type 1F
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011958
hpo_term: Retinal perforation
chpo_term: 视网膜穿孔
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (OMIM:614346):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25
Mental retardation, autosomal recessive 25

Associated phenotypes (HPO):
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (OMIM:619662):
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
Cholestasis, progressive familial intrahepatic, 8

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614420):
Systemic lupus erythematosus 16
SYSTEMIC LUPUS ERYTHEMATOSUS 16

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0033726
hpo_term: Lupus nephritis
chpo_term: 狼疮性肾炎
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0032229
hpo_term: Perinuclear antineutrophil antibody positivity
chpo_term: 核周抗中性粒细胞抗体阳性
Disease (OMIM:145420):
Teebi hypertelorism syndrome 1
HYPERTELORISM, TEEBI TYPE

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:229230):
Fraser-Like syndrome
FRASER-LIKE SYNDROME

Associated phenotypes (HPO):
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0009540
hpo_term: Contracture of the proximal interphalangeal joint of the 2nd finger
chpo_term: 第二指的近节指骨间关节挛缩
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
Disease (OMIM:618232):
Mitochondrial complex I deficiency, nuclear type 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:128800):
Ear without helix
EAR WITHOUT HELIX

Associated phenotypes (HPO):
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617101):
Intellectual developmental disorder with persistence of fetal hemoglobin
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0004611
hpo_term: Anterior concavity of thoracic vertebrae
chpo_term: 胸椎前凹
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌