TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:589905):
DIDOD
Chung-Jansen syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Associated phenotypes (HPO):
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
Disease (ORPHA:103907):
Chronic diarrhea due to glucoamylase deficiency
Maltase-glucoamylase deficiency

Associated phenotypes (HPO):
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0025129
hpo_term: Abnormal small intestinal mucosa morphology
chpo_term: 小肠粘膜形态异常
id: HP:0025130
hpo_term: Decreased small intestinal mucosa lactase level
chpo_term: 小肠黏膜乳糖酶水平降低
id: HP:0410281
hpo_term: Dyspepsia
chpo_term: 消化不良
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
Disease (ORPHA:3437):
Uveomenigitic syndrome
Vogt-Koyanagi-Harada disease

Associated phenotypes (HPO):
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002290
hpo_term: Poliosis
chpo_term: 白发
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:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001094
hpo_term: Iridocyclitis
chpo_term: 虹膜睫状体炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0020120
hpo_term: Retinal nerve fiber edema
chpo_term: 视网膜神经纤维水肿
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0040030
hpo_term: Chorioretinal hypopigmentation
chpo_term: 脉络膜视网膜色素沉着减退
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0025341
hpo_term: Corneal keratic precipitates
chpo_term: 角膜后沉着物
id: HP:0100809
hpo_term: Scalp tenderness
chpo_term: 头皮压痛
id: HP:6000710
Disease (ORPHA:2104):
Guízar Vázquez-Sánchez-Manzano syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
Disease (ORPHA:3439):
DK phocomelia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
Von Voss-Cherstvoy syndrome

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0006496
hpo_term: Aplasia/hypoplasia involving bones of the upper limbs
chpo_term: 上肢骨骼发育不良/发育不全
id: HP:0009813
hpo_term: Upper limb phocomelia
chpo_term: 上肢短肢畸形
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
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:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
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:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
Disease (ORPHA:2101):
Developmental delay-hypotonia-extremities hypertrophy syndrome
Grubben-de Cock-Borghgraef syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:238750):
4q21 microdeletion syndrome
Del(4)(q21)
Monosomy 4q21

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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: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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:3433):
Viljoen-Kallis-Voges syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0003413
hpo_term: Atlantoaxial abnormality
chpo_term: 寰枢椎畸形
id: HP:0005620
hpo_term: Hypermobility of interphalangeal joints
chpo_term: 指间关节活动过度
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012811
hpo_term: Wide nasal ridge
chpo_term: 宽鼻嵴
Disease (ORPHA:2108):
Oculomandibulofacial syndrome
François dyscephalic syndrome
Hallermann-Streiff syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000896
hpo_term: Rib exostoses
chpo_term: 肋骨外生骨疣
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:3434):
Viljoen-Smart syndrome
MMEP syndrome
Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Syndromic microphthalmia type 8
MCOPS8

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
Disease (ORPHA:71275):
Rh deficiency syndrome
Rh-null syndrome

Associated phenotypes (HPO):
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0032366
hpo_term: Positive direct antiglobulin test
chpo_term: 直接抗球蛋白试验阳性
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0032231
hpo_term: Hypochromia
chpo_term: 低色素（红细胞）
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
Disease (ORPHA:2107):
Hall-Riggs syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
Disease (ORPHA:71276):
Imploding antrum syndrome
Chronic maxillary atelectasis grade III
Silent sinus syndrome
CMA grade 3

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
Disease (ORPHA:71277):
Classic GLUT1-DS
De Vivo disease
Encephalopathy due to GLUT1 deficiency
Classic glucose transporter type 1 deficiency syndrome
Classic GLUT1 deficiency syndrome

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0007034
hpo_term: Generalized hyperreflexia
chpo_term: 广泛性反射亢进
id: HP:0007308
hpo_term: Extrapyramidal dyskinesia
chpo_term: 锥体外系运动障碍
id: HP:0007704
hpo_term: Paroxysmal involuntary eye movements
chpo_term: 阵发性不自主眼球运动
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
Disease (ORPHA:238722):
Hereditary congenital controlateral synkinesia
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
Familial congenital mirror movements
Hereditary congenital mirror movements
Familial congenital controlateral synkinesia

Associated phenotypes (HPO):
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002492
hpo_term: Morphological abnormality of the corticospinal tract
chpo_term: 皮质脊髓束形态异常
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0025101
hpo_term: Dysgenesis of the hippocampus
chpo_term: 海马回发育不全
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫