TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618853):
ANAUXETIC DYSPLASIA 3
Anauxetic dysplasia 3

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0004060
hpo_term: Trident hand
chpo_term: 三叉手
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0009844
hpo_term: Broad middle phalanx of finger
chpo_term: 中节指骨变宽
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0003423
hpo_term: Thoracolumbar kyphoscoliosis
chpo_term: 胸腰段脊柱后侧凸畸形
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
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:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:620314):
Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:167210):
PACHYONYCHIA CONGENITA 2
Pachyonychia congenita 2

Associated phenotypes (HPO):
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0030318
hpo_term: Angular cheilitis
chpo_term: 口角炎
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0012035
hpo_term: Steatocystoma multiplex
chpo_term: 多发性皮脂腺囊瘤
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:178330):
Ptosis, strabismus, and ectopic pupils
PTOSIS, STRABISMUS, AND ECTOPIC PUPILS

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:246500):
LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS
Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis

Associated phenotypes (HPO):
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:231950):
GLUTATHIONURIA
Glutathioninuria

Associated phenotypes (HPO):
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034445
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:6000578
id: HP:0034586
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:259420):
OSTEOGENESIS IMPERFECTA, TYPE III
Osteogenesis imperfecta, type III

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0005897
hpo_term: Severe generalized osteoporosis
chpo_term: 严重全身性骨质疏松症
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:6000871
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003023
hpo_term: Bowing of limbs due to multiple fractures
chpo_term: 多发骨折致肢体弯曲
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0002691
hpo_term: Platybasia
chpo_term: 颅底扁平症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0008921
hpo_term: Neonatal short-limb short stature
chpo_term: 新生儿短肢型矮小
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0005758
hpo_term: Basilar impression
chpo_term: 颅底压迹
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
Disease (OMIM:610599):
RETINITIS PIGMENTOSA 36
Retinitis pigmentosa 36

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:601494):
CARDIOMYOPATHY, DILATED, 1D
Cardiomyopathy, dilated, 1D

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0033534
hpo_term: Increased circulating brain natriuretic peptide concentration
chpo_term: 循环脑利钠肽浓度升高
id: HP:6000313
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
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:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
Disease (OMIM:243450):
Isovaleric acid, inability to smell
ISOVALERIC ACID, INABILITY TO SMELL

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
Disease (OMIM:301111):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
Intellectual developmental disorder, X-linked 112

Associated phenotypes (HPO):
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003067
hpo_term: Madelung deformity
chpo_term: 马德隆畸形
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:614927):
ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE
Ectodermal dysplasia 5, Hair/nail type

Associated phenotypes (HPO):
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (OMIM:613090):
Bartter syndrome, type 4B, neonatal, with sensorineural deafness
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003113
hpo_term: Hypochloremia
chpo_term: 低氯血症
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010984
hpo_term: Digenic inheritance
chpo_term: 双基因遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0002914
hpo_term: Hyperchloriduria
chpo_term: 高氯尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001563
hpo_term: Fetal polyuria
chpo_term: 胎儿多尿
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0003081
hpo_term: Increased urinary potassium
chpo_term: 尿钾增加
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0004909
hpo_term: Hypokalemic hypochloremic metabolic alkalosis
chpo_term: 低钾低氯性代谢性碱中毒
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
Disease (OMIM:614099):
CRANIOECTODERMAL DYSPLASIA 3
Cranioectodermal dysplasia 3

Associated phenotypes (HPO):
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001821
hpo_term: Broad nail
chpo_term: 宽甲
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0010714
hpo_term: 2-4 toe syndactyly
chpo_term: 第二至第四脚趾并趾
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:615387):
Immunodeficiency 7, TCR-alpha/beta deficient
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
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:0032170
hpo_term: Severe varicella zoster infection
chpo_term: 重度水痘带状疱疹感染
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:146590):
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE
Ichthyosis hystrix, Curth-Macklin type

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617584):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
Spinocerebellar ataxia, autosomal recessive 25

Associated phenotypes (HPO):
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
Disease (OMIM:183800):
Split-Hand with congenital nystagmus, fundal changes, and cataracts
SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS

Associated phenotypes (HPO):
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004058
hpo_term: Hand monodactyly
chpo_term: 独指手
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:108600):
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT
Spastic ataxia 1, autosomal dominant

Associated phenotypes (HPO):
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:609037):
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE
Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature

Associated phenotypes (HPO):
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
Disease (OMIM:616117):
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
Cardiac conduction disease with or without dilated cardiomyopathy

Associated phenotypes (HPO):
id: HP:0004763
hpo_term: Paroxysmal supraventricular tachycardia
chpo_term: 阵发性室上性心动过速
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001692
hpo_term: Atrial arrhythmia
chpo_term: 房性心律不齐
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0011711
hpo_term: Left anterior fascicular block
chpo_term: 左前分支传导阻滞
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓