TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:278760):
Xeroderma pigmentosum, complementation group F
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003213
hpo_term: Deficient excision of UV-induced pyrimidine dimers in DNA
chpo_term: 紫外线引起的DNA分子中嘧啶二聚体的切除缺陷
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0031287
hpo_term: Seborrheic keratosis
chpo_term: 脂溢性角化病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0031525
hpo_term: Keratoacanthoma
chpo_term: 角化棘皮瘤
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:0002977
hpo_term: Aplasia/Hypoplasia involving the central nervous system
chpo_term: 中枢神经系统发育不全或不发育
id: HP:0007587
hpo_term: Numerous pigmented freckles
chpo_term: 多发性雀斑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:178900):
PUPILLARY MEMBRANE, PERSISTENCE OF
Pupillary membrane, persistence of

Associated phenotypes (HPO):
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608716):
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
Microcephaly 5, primary, autosomal recessive

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP: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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP: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:0002472
hpo_term: Small cerebral cortex
chpo_term: 小大脑皮层
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
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:618505):
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP: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:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:619828):
Spermatogenic failure 70
SPERMATOGENIC FAILURE 70

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:620071):
BIRK-AHARONI SYNDROME
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0033142
hpo_term: Long nasal bridge
chpo_term: 长鼻梁
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
Disease (OMIM:300624):
Fragile X mental retardation syndrome
FRAGILE X SYNDROME

Associated phenotypes (HPO):
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0006099
hpo_term: Metacarpophalangeal joint hyperextensibility
chpo_term: 掌指关节伸展过度
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
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:0003564
hpo_term: Folate-dependent fragile site at Xq28
chpo_term: 叶酸依赖性Xq28脆性位点
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002050
hpo_term: Macroorchidism, postpubertal
chpo_term: 青春期后大睾丸
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0008640
hpo_term: Congenital macroorchidism
chpo_term: 先天性大睾丸
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:617805):
RENAL HYPODYSPLASIA/APLASIA 3
Renal hypodysplasia/aplasia 3

Associated phenotypes (HPO):
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:249230):
MEGAEPIPHYSEAL DWARFISM
Megaepiphyseal dwarfism

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0008494
hpo_term: Inferior lens subluxation
chpo_term: 晶状体下部半脱位
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
Disease (OMIM:125420):
Dentin dysplasia, type II
DENTIN DYSPLASIA, TYPE II

Associated phenotypes (HPO):
id: HP:0033790
hpo_term: Thistle tube shaped pulp
chpo_term: 蓟管状牙髓腔
id: HP:0003771
hpo_term: Pulp calcification
chpo_term: 牙髓钙化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011060
hpo_term: Dentinogenesis imperfecta limited to primary teeth
chpo_term: 乳牙牙本质发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615974):
Deafness, autosomal recessive 102
DEAFNESS, AUTOSOMAL RECESSIVE 102

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012715
hpo_term: Profound hearing impairment
chpo_term: 极重度听力损失
Disease (OMIM:173100):
Isolated growth hormone deficiency, type II
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II

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:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000839
hpo_term: Pituitary dwarfism
chpo_term: 垂体性侏儒症
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619196):
Deafness, congenital, and adult-onset progressive leukoencephalopathy
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007103
hpo_term: Hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质低信号
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
Disease (OMIM:619182):
Gastric adenocarcinoma and proximal polyposis of the stomach
GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH

Associated phenotypes (HPO):
id: HP:0033770
hpo_term: Gastric adenocarcinoma
chpo_term: 胃腺癌
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0033769
hpo_term: Fundic gland polyposis
chpo_term: 胃底腺息肉
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:620703):
Yuksel-Vogel-Bauser syndrome
YUKSEL-VOGEL-BAUER SYNDROME

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0010953
hpo_term: Noncommunicating hydrocephalus
chpo_term: 非交通性脑积水
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0033132
hpo_term: Renal cortical hyperechogenicity
chpo_term: 肾皮质回声增强
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:615960):
PORETTI-BOLTSHAUSER SYNDROME
Poretti-Boltshauser syndrome

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:240200):
HYPOADRENOCORTICISM, FAMILIAL
Hypoadrenocorticism, familial

Associated phenotypes (HPO):
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:209600):
ATRIOVENTRICULAR DISSOCIATION
Atrioventricular dissociation

Associated phenotypes (HPO):
id: HP:0004752
hpo_term: Congenital atrioventricular dissociation
chpo_term: 先天性房室分离
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620065):
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:608931):
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
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
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:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003443
hpo_term: Decreased size of nerve terminals
chpo_term: 神经终板缩小
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:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
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:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱