TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617306):
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
Disease (OMIM:607115):
Cinca syndrome
CINCA SYNDROME

Associated phenotypes (HPO):
id: HP:0033308
hpo_term: Patellar overgrowth
chpo_term: 髌骨过度生长
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:611777):
Brugada syndrome 2
BRUGADA SYNDROME 2

Associated phenotypes (HPO):
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
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:0012248
hpo_term: Prolonged PR interval
chpo_term: PR间期延长
Disease (OMIM:601202):
Cataract, anterior polar, 2
CATARACT 24

Associated phenotypes (HPO):
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0011501
hpo_term: Anterior lenticonus
chpo_term: 前圆锥形晶状体
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608540):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
Congenital disorder of glycosylation, type Ik

Associated phenotypes (HPO):
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0001560
hpo_term: Abnormality of the amniotic fluid
chpo_term: 羊水异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:617460):
RETINITIS PIGMENTOSA 79
Retinitis pigmentosa 79

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
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
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609886):
MOVED TO 162000 AND 137920
Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Associated phenotypes (HPO):
id: HP:0100611
hpo_term: Multiple glomerular cysts
chpo_term: 多发性肾小球囊肿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
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 (OMIM:613606):
FORSYTHE-WAKELING SYNDROME
Forsythe-Wakeling syndrome

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:612518):
CILIARY DYSKINESIA, PRIMARY, 10
Ciliary dyskinesia, primary, 10

Associated phenotypes (HPO):
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005938
hpo_term: Abnormal respiratory motile cilium morphology
chpo_term: 运动纤毛细胞形态异常
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
Disease (OMIM:615277):
Cataract 19, multiple types
CATARACT 19, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007780
hpo_term: Cortical pulverulent cataract
chpo_term: 皮层粉状白内障
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:613612):
Congenital disorder of glycosylation, type IIi
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi

Associated phenotypes (HPO):
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
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
Disease (OMIM:125851):
Maturity-onset diabetes of the young, type II
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601216):
Dental anomalies and short stature
DENTAL ANOMALIES AND SHORT STATURE

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0008441
hpo_term: Herniation of intervertebral nuclei
chpo_term: 椎间盘髓核疝出
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:606579):
Vitiligo-Associated multiple autoimmune disease susceptibility 1
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1

Associated phenotypes (HPO):
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
Disease (OMIM:106050):
Angioma serpiginosum, autosomal dominant
ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:618021):
TETRAAMELIA SYNDROME 2
Tetraamelia syndrome 2

Associated phenotypes (HPO):
id: HP:0005304
hpo_term: Hypoplastic pulmonary veins
chpo_term: 肺静脉发育不全
id: HP:0009827
hpo_term: Amelia
chpo_term: 缺肢
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0005944
hpo_term: Bilateral lung agenesis
chpo_term: 双肺发育不全
Disease (OMIM:607101):
DEAFNESS, AUTOSOMAL RECESSIVE 30
Deafness, autosomal recessive 30

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
Disease (OMIM:138800):
Goiter, multinodular 1
GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS

Associated phenotypes (HPO):
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0000866
hpo_term: Euthyroid multinodular goiter
chpo_term: 甲状腺功能正常结节性甲状腺肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608232):
Leukemia, chronic myeloid
LEUKEMIA, CHRONIC MYELOID

Associated phenotypes (HPO):
id: HP:0004852
hpo_term: Reduced leukocyte alkaline phosphatase
chpo_term: 白细胞碱性磷酸酶减少
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0004848
hpo_term: Ph-positive acute lymphoblastic leukemia
chpo_term: Ph染色体阳性急性淋巴细胞白血病
id: HP:0005506
hpo_term: Chronic myelogenous leukemia
chpo_term: 慢性粒细胞白血病
Disease (OMIM:602079):
TRIMETHYLAMINURIA
Trimethylaminuria

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0003614
hpo_term: Trimethylaminuria
chpo_term: 三甲胺尿症
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:615505):
Ciliary dyskinesia, primary, 28
CILIARY DYSKINESIA, PRIMARY, 28

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012255
hpo_term: Dynein arm defect of respiratory motile cilia
chpo_term: 能动纤毛动力蛋白臂缺陷
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:613174):
Chromosome 5p13 duplication syndrome
CHROMOSOME 5p13 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
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:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:175900):
Porokeratosis 3, multiple types
POROKERATOSIS 3, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618009):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
Intellectual developmental disorder 61

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0011170
hpo_term: Generalized myoclonic-atonic seizure
chpo_term: 全面性肌阵挛-失张力发作
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:183700):
Split-Foot deformity with mandibulofacial dysostosis
SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
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
Disease (OMIM:610455):
Tumoral calcinosis, normophosphatemic, familial
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0100511
hpo_term: Abnormality of vitamin D metabolism
chpo_term: 维生素D代谢异常
id: HP:0031817
hpo_term: Decreased circulating parathyroid hormone level
chpo_term: 甲状旁腺激素水平降低
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0025520
hpo_term: Calcinosis cutis
chpo_term: 皮肤钙质沉着症
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
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:0100529
hpo_term: Abnormal blood phosphate concentration
chpo_term: 磷酸盐稳态平衡异常