TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619340):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96
Developmental and epileptic encephalopathy 96

Associated phenotypes (HPO):
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:609153):
Pseudohyperkalemia, familial, 2, due to red cell leak
PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK

Associated phenotypes (HPO):
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614102):
Immunoglobulin kappa light chain deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:6000261
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:619426):
WHITE-KERNOHAN SYNDROME
White-Kernohan syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
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:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
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:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0034003
hpo_term: Broad medial eyebrow
chpo_term: 中央眉毛较宽
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:610370):
DIARRHEA 4, MALABSORPTIVE, CONGENITAL
Diarrhea 4, malabsorptive, congenital

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:609621):
Short QT syndrome 2
SHORT QT SYNDROME 2

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:212790):
Premature centromere division
PREMATURE CENTROMERE DIVISION

Associated phenotypes (HPO):
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:0003745
hpo_term: Sporadic
chpo_term: 散发的
Disease (OMIM:612567):
Inflammatory bowel disease 25, early onset, autosomal recessive
INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033279
hpo_term: Enterocutaneous fistula
chpo_term: 肠外瘘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033256
hpo_term: Pancolitis
chpo_term: 全结肠炎
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
Disease (OMIM:613679):
PROTHROMBIN DEFICIENCY, CONGENITAL
Congenital prothrombin deficiency

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
Disease (OMIM:614116):
Neuropathy, hereditary sensory, type IE
NEUROPATHY, HEREDITARY SENSORY, TYPE IE

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:612201):
Atrial fibrillation, familial, 6
ATRIAL FIBRILLATION, FAMILIAL, 6

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034307
hpo_term: Elevated left ventricular end-diastolic diameter
chpo_term: 左心室舒张末期内径升高
Disease (OMIM:137580):
Gilles de la tourette syndrome
GILLES DE LA TOURETTE SYNDROME

Associated phenotypes (HPO):
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0100035
hpo_term: Phonic tics
chpo_term: 声音抽搐
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0100034
hpo_term: Motor tics
chpo_term: 运动抽动
Disease (OMIM:619354):
Deafness, cataract, impaired intellectual development, and polyneuropathy
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0009938
hpo_term: Sunken cheeks
chpo_term: 脸颊凹陷
id: HP:0007618
hpo_term: Subcutaneous calcification
chpo_term: 皮下钙化
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100830
hpo_term: Round ear
chpo_term: 圆耳
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
Disease (OMIM:117650):
CEREBROCOSTOMANDIBULAR SYNDROME
Cerebrocostomandibular syndrome

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0006593
hpo_term: Anomalous rib insertion to vertebrae
chpo_term: 肋骨插入椎骨异常
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0010290
hpo_term: Short hard palate
chpo_term: 短硬腭
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004695
hpo_term: Calcaneal epiphyseal stippling
chpo_term: 跟骨骨骺点状钙化
id: HP:0030300
hpo_term: 10 pairs of ribs
chpo_term: 10对肋骨
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0004468
hpo_term: Anomalous tracheal cartilage
chpo_term: 气管软骨异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030282
hpo_term: Posterior rib gap
chpo_term: 肋骨后部间隙
id: HP:0030280
hpo_term: Rib gap
chpo_term: 肋骨间隙
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:616067):
46,XY SEX REVERSAL 9
46,xy sex reversal 9

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000063
hpo_term: Fused labia minora
chpo_term: 小阴唇融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:108770):
Atrial standstill 1
ATRIAL STANDSTILL 1

Associated phenotypes (HPO):
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0025478
hpo_term: Atrial standstill
chpo_term: 心房静止
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0200127
hpo_term: Atrial cardiomyopathy
chpo_term: 心房心肌病
id: HP:0005155
hpo_term: Ventricular escape rhythm
chpo_term: 室性逸搏心律
id: HP:0006699
hpo_term: Premature atrial contractions
chpo_term: 房性早搏
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:112700):
BRACHYDACTYLY, TYPE A3
Brachydactyly, type A3

Associated phenotypes (HPO):
id: HP:0009370
hpo_term: Type A brachydactyly
chpo_term: A型短指
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0005910
hpo_term: Rhomboid or triangular shaped 5th finger middle phalanx
chpo_term: 第五指中节指骨呈菱形或三角形
Disease (OMIM:612229):
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
Colorectal cancer, susceptibility to, 3

Associated phenotypes (HPO):
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
Disease (OMIM:614880):
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 15 with or without anosmia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:116200):
Cataract 1, multiple types
CATARACT 1, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010693
hpo_term: Pulverulent cataract
chpo_term: 粉状白内障
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607624):
GRISCELLI SYNDROME, TYPE 2
Griscelli syndrome, type 2

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002972
hpo_term: Reduced delayed hypersensitivity
chpo_term: 迟发型超敏反应降低
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002220
hpo_term: Melanin pigment aggregation in hair shafts
chpo_term: 发干部位色素沉积
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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:0001008
hpo_term: Accumulation of melanosomes in melanocytes
chpo_term: 黑素细胞中黑素小体聚集
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
Disease (OMIM:192100):
Uvula, bifid
UVULA, BIFID

Associated phenotypes (HPO):
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615220):
Osteogenesis imperfecta, type XV
OSTEOGENESIS IMPERFECTA, TYPE XV

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010636
hpo_term: Schizencephaly
chpo_term: 脑裂畸形
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
Disease (OMIM:615234):
Anemia, hypochromic microcytic, with iron overload 2
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2

Associated phenotypes (HPO):
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032231
hpo_term: Hypochromia
chpo_term: 低色素（红细胞）
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
Disease (OMIM:268000):
RETINITIS PIGMENTOSA
Retinitis pigmentosa

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0031605
hpo_term: Abnormality of fundus pigmentation
chpo_term: 眼底色素沉着异常
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605027):
Lymphoma, non-hodgkin, familial
LYMPHOMA, NON-HODGKIN, FAMILIAL

Associated phenotypes (HPO):
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
Disease (OMIM:225100):
Ectopia lentis
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
Disease (OMIM:204870):
CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
Corneal dystrophy, gelatinous drop-like

Associated phenotypes (HPO):
id: HP:0034804
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
Disease (OMIM:608265):
Deafness, congenital neurosensory, autosomal recessive 39
DEAFNESS, AUTOSOMAL RECESSIVE 39

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
Disease (OMIM:613123):
Brugada syndrome 8
BRUGADA SYNDROME 8

Associated phenotypes (HPO):
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速