TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616171):
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
Microcephaly and chorioretinopathy, autosomal recessive, 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
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:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:141500):
Migraine, familial hemiplegic, 1
MIGRAINE, FAMILIAL HEMIPLEGIC, 1

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
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:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
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:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001125
hpo_term: Transient unilateral blurring of vision
chpo_term: 一过性视物模糊
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:616617):
HEIMLER SYNDROME 2
Heimler syndrome 2

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0041093
hpo_term: Beau's lines
chpo_term: 博氏线
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
Disease (OMIM:145000):
HYPERPARATHYROIDISM 1
Hyperparathyroidism 1

Associated phenotypes (HPO):
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:236730):
Urofacial syndrome
UROFACIAL SYNDROME 1

Associated phenotypes (HPO):
id: HP:0010481
hpo_term: Urethral valve
chpo_term: 尿道瓣膜
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0005346
hpo_term: Abnormal facial expression
chpo_term: 面部表情异常
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000796
hpo_term: Urethral obstruction
chpo_term: 尿道梗阻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:604213):
CHUDLEY-MCCULLOUGH SYNDROME
Chudley-Mccullough syndrome

Associated phenotypes (HPO):
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002700
hpo_term: Large foramen magnum
chpo_term: 大枕骨大孔
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
Disease (OMIM:143465):
Attention deficit-hyperactivity disorder
ATTENTION DEFICIT-HYPERACTIVITY DISORDER

Associated phenotypes (HPO):
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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
Disease (OMIM:276300):
Mismatch repair cancer syndrome 1
MISMATCH REPAIR CANCER SYNDROME 1

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0033682
hpo_term: Pleomorphic xanthoastrocytoma
chpo_term: 多形性黄色星形细胞瘤
id: HP:0040274
hpo_term: Adenocarcinoma of the small intestine
chpo_term: 小肠腺癌
id: HP:0033681
hpo_term: Oligodendroglioma
chpo_term: 少突神经胶质细胞瘤
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0012190
hpo_term: T-cell lymphoma
chpo_term: T细胞淋巴瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
Disease (OMIM:616603):
Cutis laxa, autosomal dominant 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
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:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0004938
hpo_term: Tortuous cerebral arteries
chpo_term: 脑动脉迂曲
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002677
hpo_term: Small foramen magnum
chpo_term: 枕大孔狭窄
id: HP:0005667
hpo_term: Os odontoideum
chpo_term: 游离齿状突(齿状突小骨)
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0100857
hpo_term: Flat sella turcica
chpo_term: 蝶鞍扁平
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
Disease (OMIM:601419):
MYOPATHY, MYOFIBRILLAR, 1
Myopathy, myofibrillar, 1

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0003694
hpo_term: Late-onset proximal muscle weakness
chpo_term: 晚发性近端肌无力
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
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:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
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:0002019
hpo_term: Constipation
chpo_term: 便秘
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:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:619256):
Hypercholanemia, familial 2
HYPERCHOLANEMIA, FAMILIAL, 2

Associated phenotypes (HPO):
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:616165):
Nemaline myopathy 10
NEMALINE MYOPATHY 10

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
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:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:618148):
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
Extraoral halitosis due to MTO deficiency

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0100812
hpo_term: Halitosis
chpo_term: 口臭
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
Disease (OMIM:620158):
SPINOCEREBELLAR ATAXIA 50
Spinocerebellar ataxia 50

Associated phenotypes (HPO):
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0033051
hpo_term: Impaired executive functioning
chpo_term: 执行功能受损
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:0032121
hpo_term: Froment sign
chpo_term: Froment征
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
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617092):
CILIARY DYSKINESIA, PRIMARY, 35
Ciliary dyskinesia, primary, 35

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
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:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0031565
hpo_term: Abdominal situs ambiguus
chpo_term: 内脏位置异常
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:107970):
Arrhythmogenic right ventricular dysplasia, familial, 1
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011663
hpo_term: Right ventricular cardiomyopathy
chpo_term: 右室心肌病
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
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
Disease (OMIM:251230):
Microcephaly-micromelia syndrome
MICROCEPHALY-MICROMELIA SYNDROME

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0009821
hpo_term: Forearm undergrowth
chpo_term: 前臂发育不良
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
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:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
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:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:155950):
Melorheostosis, isolated
MELORHEOSTOSIS, ISOLATED

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:6000817
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
Disease (OMIM:615685):
Spastic paraplegia 61, autosomal recessive
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615849):
Culler-Jones syndrome
CULLER-JONES SYNDROME

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211600):
Cholestasis, progressive familial intrahepatic 1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
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:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006575
hpo_term: Intrahepatic cholestasis with episodic jaundice
chpo_term: 肝内胆汁淤积伴发作性黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:616398):
Dystonia 26, myoclonic
DYSTONIA 26, MYOCLONIC

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛