TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:300707):
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
STAR syndrome

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0001153
hpo_term: Septate vagina
chpo_term: 阴道纵膈
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
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:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0010716
hpo_term: 3-5 toe syndactyly
chpo_term: 第三至第五脚趾并趾
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0034350
hpo_term: Valvular pulmonary stenosis
chpo_term: 肺动脉瓣狭窄
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0009779
hpo_term: 3-4 toe syndactyly
chpo_term: 第三、四脚趾并趾
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
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:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:545000):
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
Myoclonic epilepsy associated with ragged-red fibers

Associated phenotypes (HPO):
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617926):
Orofaciodigital syndrome XVII
OROFACIODIGITAL SYNDROME XVII

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006145
hpo_term: Central Y-shaped metacarpal
chpo_term: 中央Y形掌骨
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009944
hpo_term: Partial duplication of thumb phalanx
chpo_term: 拇指指骨部分重复
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:259100):
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
Hypertrophic osteoarthropathy, primary, autosomal recessive 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
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: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:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
Disease (OMIM:210500):
BILIARY ATRESIA, EXTRAHEPATIC
Biliary atresia, extrahepatic

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0005242
hpo_term: Extrahepatic biliary duct atresia
chpo_term: 肝外胆道闭锁
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0011984
hpo_term: Atretic gallbladder
chpo_term: 胆囊闭锁
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (OMIM:242520):
ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION
Ichthyosis, hepatosplenomegaly, and cerebellar degeneration

Associated phenotypes (HPO):
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
Disease (OMIM:202110):
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001949
hpo_term: Hypokalemic alkalosis
chpo_term: 低钾性碱中毒
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
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:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000840
hpo_term: Adrenogenital syndrome
chpo_term: 肾上腺性征异常综合征
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:182970):
Spinal muscular atrophy, Facioscapulohumeral type
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:314000):
THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE
Thrombocytopenia with elevated serum IgA and renal disease

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:612692):
Agammaglobulinemia 6, autosomal recessive
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
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:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:602481):
Migraine, familial hemiplegic, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0001125
hpo_term: Transient unilateral blurring of vision
chpo_term: 一过性视物模糊
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (DECIPHER:81):
15q26 overgrowth syndrome

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
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:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001780
hpo_term: Abnormality of toe
chpo_term: 脚趾异常
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0005580
hpo_term: Duplication of renal pelvis
chpo_term: 双肾盂
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:310500):
Night blindness, congenital stationary, type 1A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A

Associated phenotypes (HPO):
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (OMIM:127300):
LERI-WEILL DYSCHONDROSTEOSIS
Leri-Weill dyschondrosteosis

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0001191
hpo_term: Abnormal carpal morphology
chpo_term: 腕骨形态异常
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0006459
hpo_term: Dorsal subluxation of ulna
chpo_term: 尺骨背侧半脱位
id: HP:0003367
hpo_term: Abnormal femoral neck morphology
chpo_term: 股骨颈形态异常
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003102
hpo_term: Increased carrying angle
chpo_term: 前臂外展偏角增加
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003067
hpo_term: Madelung deformity
chpo_term: 马德隆畸形
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0001832
hpo_term: Abnormal metatarsal morphology
chpo_term: 跖骨形态异常
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:601163):
Diaphragmatic defects, limb deficiencies, and ossification defects of skull
DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL

Associated phenotypes (HPO):
id: HP:0009827
hpo_term: Amelia
chpo_term: 缺肢
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
Disease (OMIM:618432):
Hydatidiform mole, recurrent, 4
HYDATIDIFORM MOLE, RECURRENT, 4

Associated phenotypes (HPO):
id: HP:0032192
hpo_term: Hydatidiform mole
chpo_term: 葡萄胎
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200067
hpo_term: Recurrent spontaneous abortion
chpo_term: 复发性自然流产
Disease (OMIM:614208):
Intellectual developmental disorder, autosomal recessive 16
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:112350):
Weismann-Netter syndrome
WEISMANN-NETTER SYNDROME

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0010538
hpo_term: Small sella turcica
chpo_term: 小蝶鞍
id: HP:0003440
hpo_term: Horizontal sacrum
chpo_term: 水平骶骨
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0004490
hpo_term: Calvarial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0005090
hpo_term: Lateral femoral bowing
chpo_term: 股骨外侧弯曲
id: HP:0006390
hpo_term: Anterior tibial bowing
chpo_term: 胫骨向前弯曲
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615670):
SCHWANNOMATOSIS 2
Schwannomatosis 2

Associated phenotypes (HPO):
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:136580):
FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
Fragile site 16q22

Associated phenotypes (HPO):
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常