TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:611548):
Premature ovarian failure 5
PREMATURE OVARIAN FAILURE 5

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0033085
hpo_term: Reduced antral follicle count
chpo_term: 窦卵泡减少
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
Disease (OMIM:616227):
MYASTHENIC SYNDROME, CONGENITAL, 15
Myasthenic syndrome, congenital, 15

Associated phenotypes (HPO):
id: HP:0030205
hpo_term: Increased jitter at single fiber EMG
chpo_term: 单纤维肌电图时抖动增加
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
Disease (OMIM:236300):
Hooft disease
HOOFT DISEASE

Associated phenotypes (HPO):
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
Disease (OMIM:614430):
Atrioventricular septal defect 4
ATRIOVENTRICULAR SEPTAL DEFECT 4

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010445
hpo_term: Primum atrial septal defect
chpo_term: 原发孔型房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617111):
Macular dystrophy, patterned, 3
MACULAR DYSTROPHY, PATTERNED, 3

Associated phenotypes (HPO):
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618222):
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
Mitochondrial complex I deficiency, nuclear type 2

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0005949
hpo_term: Apneic episodes in infancy
chpo_term: 婴儿期呼吸暂停
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0012416
hpo_term: Hypercapnia
chpo_term: 高碳酸血症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
Disease (OMIM:611560):
Joubert syndrome 7
JOUBERT SYNDROME 7

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
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:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002876
hpo_term: Episodic tachypnea
chpo_term: 阵发性呼吸急促
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002790
hpo_term: Neonatal breathing dysregulation
chpo_term: 新生儿呼吸调节异常
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:0002508
hpo_term: Brainstem dysplasia
chpo_term: 脑干发育不良
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
Disease (OMIM:615706):
Auriculocondylar syndrome 3
AURICULOCONDYLAR SYNDROME 3

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0030022
hpo_term: Question mark ear
chpo_term: 问号状耳
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008751
hpo_term: Laryngeal cleft
chpo_term: 喉裂
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:612069):
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:614418):
Febrile seizures, familial, 11
FEBRILE SEIZURES, FAMILIAL, 11

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0410170
hpo_term: Hippocampal atrophy
chpo_term: 海马萎缩
Disease (OMIM:613411):
OGUCHI DISEASE 2
Oguchi disease-2

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0030824
hpo_term: Mizuo phenomenon
chpo_term: 水尾现象
Disease (OMIM:601001):
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
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:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0034193
hpo_term: Stratum basale cleavage
chpo_term: 基底层裂隙
id: HP:0032449
hpo_term: Abnormal dermoepidermal hemidesmosome morphology
chpo_term: 真皮表皮半桥粒形态异常
Disease (OMIM:121820):
Corneal dystrophy, epithelial basement membrane
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE

Associated phenotypes (HPO):
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
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:0007690
hpo_term: Map-dot-fingerprint corneal dystrophy
chpo_term: 地图点指纹角膜营养不良
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300842):
MCLEOD SYNDROME
Mcleod syndrome

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0012075
hpo_term: Personality disorder
chpo_term: 人格障碍
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0012046
hpo_term: Areflexia of upper limbs
chpo_term: 上肢反射消失
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
Disease (OMIM:617663):
DEAFNESS, AUTOSOMAL DOMINANT 73
Deafness, autosomal dominant 73

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618550):
OOCYTE MATURATION DEFECT 7
Oocyte maturation defect 7

Associated phenotypes (HPO):
id: HP:0032571
hpo_term: Increased oocyte death
chpo_term: 卵细胞死亡增加
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:180750):
Robinow-Sorauf syndrome
ROBINOW-SORAUF SYNDROME

Associated phenotypes (HPO):
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:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011325
hpo_term: Pansynostosis
chpo_term: 泛颅缝早闭
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0010084
hpo_term: Duplication of the distal phalanx of the hallux
chpo_term: 拇趾末节趾骨重复
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:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:173800):
POLAND SYNDROME
Poland syndrome

Associated phenotypes (HPO):
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0005256
hpo_term: Unilateral absence of pectoralis major muscle
chpo_term: 胸大肌单侧缺如
id: HP:0005255
hpo_term: Absence of pectoralis minor muscle
chpo_term: 胸小肌缺如
id: HP:0011959
hpo_term: Unilateral hypoplasia of pectoralis major muscle
chpo_term: 单侧胸大肌发育不全
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0009011
hpo_term: Hypoplasia of serratus anterior muscle
chpo_term: 前锯肌发育不良
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0006230
hpo_term: Unilateral oligodactyly
chpo_term: 单侧缺指（趾）
id: HP:0030241
hpo_term: Hypoplasia of deltoid muscle
chpo_term: 三角肌发育不全
id: HP:0009026
hpo_term: Hypoplasia of latissimus dorsi muscle
chpo_term: 背阔肌肌发育不良
id: HP:0000769
hpo_term: Abnormality of the breast
chpo_term: 乳房异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006008
hpo_term: Unilateral brachydactyly
chpo_term: 单侧短指（趾）
Disease (OMIM:248190):
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
Hypomagnesemia 5, renal, with or without ocular involvement

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0005567
hpo_term: Renal magnesium wasting
chpo_term: 肾脏镁消耗
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
id: HP:0012608
hpo_term: Hypermagnesiuria
chpo_term: 高镁尿症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0012637
hpo_term: Renal calcium wasting
chpo_term: 肾源性钙流失
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
Disease (OMIM:615074):
Mental retardation, autosomal dominant 18
GAND SYNDROME

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
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:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:184250):
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
Spondyloepimetaphyseal dysplasia, Strudwick type

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0006406
hpo_term: Club-shaped proximal femur
chpo_term: 棒状股骨近端
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0011860
hpo_term: Metaphyseal dappling
chpo_term: 斑点状干骺端
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0003320
hpo_term: C1-C2 subluxation
chpo_term: C1-C2半脱位
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0008788
hpo_term: Delayed pubic bone ossification
chpo_term: 耻骨骨化延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:617105):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
Epileptic encephalopathy, early infantile, 41

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0031475
hpo_term: Status epilepticus without prominent motor symptoms
chpo_term: 非惊厥性癫痫持续状态
id: HP:0032667
hpo_term: Myoclonic status epilepticus
chpo_term: 肌阵挛癫痫持续状态
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传