TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:187600):
Thanatophoric dysplasia, type I
THANATOPHORIC DYSPLASIA, TYPE I

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004565
hpo_term: Severe platyspondyly
chpo_term: 重度扁平椎
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0008909
hpo_term: Lethal short-limbed short stature
chpo_term: 致死性短肢型矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0034222
hpo_term: Temporal lobe dysplasia
chpo_term: 颞叶发育不良
id: HP:0000910
hpo_term: Wide-cupped costochondral junctions
chpo_term: 宽杯状的肋软骨交界处
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0002677
hpo_term: Small foramen magnum
chpo_term: 枕大孔狭窄
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003185
hpo_term: Short greater sciatic notch
chpo_term: 骶髂切迹小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0030928
hpo_term: 1-minute APGAR score of 1
chpo_term: 1分钟APGAR评分1分
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0034226
hpo_term: Champagne cork sign
chpo_term: 香槟软木塞征
id: HP:0030921
hpo_term: 5-minute APGAR score of 1
chpo_term: 5分钟APGAR评分1分
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0006584
hpo_term: Small abnormally formed scapulae
chpo_term: 小的异常形成的肩胛骨
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:103500):
TIETZ ALBINISM-DEAFNESS SYNDROME
Tietz albinism-deafness syndrome

Associated phenotypes (HPO):
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
Disease (OMIM:612124):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
Cardiomyopathy, familial hypertrophic, 12

Associated phenotypes (HPO):
id: HP:0034386
hpo_term: Reduced left ventricular endsystolic diameter
chpo_term: 左室收缩末期内径内径减小
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0005144
hpo_term: Ventricular septal hypertrophy
chpo_term: 室间隔肥厚
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
Disease (OMIM:619071):
Leukodystrophy, hypomyelinating, 20
LEUKODYSTROPHY, HYPOMYELINATING, 20

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0012706
hpo_term: Elevated brain choline level by MRS
chpo_term: MRS发现脑胆碱水平升高
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030081
hpo_term: Punctate periventricular T2 hyperintense foci
chpo_term: 脑室周围白质点状T2高信号灶
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
Disease (OMIM:616342):
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
Lissencephaly 7 with cerebellar hypoplasia

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011922
hpo_term: Abnormal activity of mitochondrial respiratory chain
chpo_term: 线粒体呼吸链活性异常
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:610733):
NOONAN SYNDROME 4
Noonan syndrome 4

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000915
hpo_term: Pectus excavatum of inferior sternum
chpo_term: 下段漏斗胸
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:619065):
Mitochondrial complex IV deficiency, nuclear type 21
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0500233
hpo_term: Increased CSF alanine concentration
chpo_term: 脑脊液丙氨酸浓度升高
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:615887):
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
Amelogenesis imperfecta, type IIA5

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:614541):
CHROMOSOME 16q22 DELETION SYNDROME
Chromosome 16q22 deletion syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:230600):
GM1-gangliosidosis, type II
GM1-GANGLIOSIDOSIS, TYPE II

Associated phenotypes (HPO):
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001982
hpo_term: Sea-blue histiocytosis
chpo_term: 海蓝色组织细胞增多症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008166
hpo_term: Decreased beta-galactosidase activity
chpo_term: β-半乳糖苷酶活性降低
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0005619
hpo_term: Thoracolumbar kyphosis
chpo_term: 胸腰部脊柱后凸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:612656):
Episodic ataxia, type 6
EPISODIC ATAXIA, TYPE 6

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0006852
hpo_term: Episodic generalized hypotonia
chpo_term: 发作性全身肌张力减退
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615139):
Facial dysmorphism, immunodeficiency, livedo, and short stature
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
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:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0031367
hpo_term: Metaphyseal striations
chpo_term: 干骺端条纹
id: HP:0033832
hpo_term: Livedo
chpo_term: 青斑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0007421
hpo_term: Telangiectases of the cheeks
chpo_term: 面颊毛细血管扩张
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:614227):
Hyperuricemic nephropathy, familial juvenile, 3
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3

Associated phenotypes (HPO):
id: HP:0032581
hpo_term: Abnormal renal insterstitial morphology
chpo_term: 肾间质形态异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (DECIPHER:45):
Xq28 (MECP2) duplication

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:147430):
MARSILI SYNDROME
Marsili syndrome

Associated phenotypes (HPO):
id: HP:0002661
hpo_term: Painless fractures due to injury
chpo_term: 外伤性无痛骨折
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
Disease (OMIM:600252):
Lowry-Maclean syndrome
LOWRY-MACLEAN SYNDROME

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传