TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:601977):
Thrombocythemia 2
THROMBOCYTHEMIA 2

Associated phenotypes (HPO):
id: HP:0005513
hpo_term: Increased megakaryocyte count
chpo_term: 巨核细胞计数增加
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:165700):
Thiemann disease
THIEMANN DISEASE

Associated phenotypes (HPO):
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
Disease (OMIM:615916):
Cardiomyopathy, dilated, 1nn
CARDIOMYOPATHY, DILATED, 1NN

Associated phenotypes (HPO):
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
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:0012249
hpo_term: Abnormal ST segment
chpo_term: ST段异常
Disease (OMIM:128600):
EAR MALFORMATION
Ear malformation

Associated phenotypes (HPO):
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:161200):
Nail-Patella syndrome
NAIL-PATELLA SYNDROME

Associated phenotypes (HPO):
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005255
hpo_term: Absence of pectoralis minor muscle
chpo_term: 胸小肌缺如
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001032
hpo_term: Absent distal interphalangeal creases
chpo_term: 远端指间关节皮肤皱褶缺如
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0009780
hpo_term: Iliac horns
chpo_term: 髂骨角畸形
id: HP:0012376
hpo_term: Microphakia
chpo_term: 小晶状体
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0009781
hpo_term: Lester's sign
chpo_term: Lester标志
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0009783
hpo_term: Biceps aplasia
chpo_term: 肱二头肌发育不全
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0006650
hpo_term: Thickening of the lateral border of the scapula
chpo_term: 肩胛骨外侧缘增厚
id: HP:0009785
hpo_term: Triceps aplasia
chpo_term: 肱三头肌发育不全
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0009788
hpo_term: Quadriceps aplasia
chpo_term: 股四头肌发育不全
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0006633
hpo_term: Glenoid fossa hypoplasia
chpo_term: 关节窝发育不全
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0006437
hpo_term: Disproportionate prominence of the femoral medial condyle
chpo_term: 股骨内侧髁不成比例的突出
id: HP:0006657
hpo_term: Hypoplasia of first ribs
chpo_term: 第一肋发育不全
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
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:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0006424
hpo_term: Elongated radius
chpo_term: 增长的桡骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0003997
hpo_term: Hypoplastic radial head
chpo_term: 桡骨头发育不全
Disease (OMIM:619692):
TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE
Trichothiodystrophy 9, nonphotosensitive

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0045055
hpo_term: Tiger tail banding
chpo_term: 老虎尾巴带
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
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:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
Disease (OMIM:615043):
Spastic paraplegia 43, autosomal recessive
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:617654):
Deafness, autosomal recessive 108
DEAFNESS, AUTOSOMAL RECESSIVE 108

Associated phenotypes (HPO):
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:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:618567):
MITOCHONDRIAL DNA DEPLETION SYNDROME 17
Mitochondrial DNA depletion syndrome 17

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003572
hpo_term: Low plasma citrulline
chpo_term: 低血浆瓜氨酸
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0012847
hpo_term: Epilepsia partialis continua
chpo_term: 部分性癫痫发作持续状态
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:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100248
hpo_term: Hemiballismus
chpo_term: 偏侧投掷/偏侧投掷症
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
Disease (OMIM:611225):
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
Spastic paraplegia 18, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0033205
hpo_term: Biceps hyperreflexia
chpo_term: 肱二头肌反射活跃
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
Disease (OMIM:182170):
Anemia, sideroblastic, autosomal dominant
ANEMIA, SIDEROBLASTIC, 4

Associated phenotypes (HPO):
id: HP:0004828
hpo_term: Refractory anemia with ringed sideroblasts
chpo_term: 难治性贫血伴环状铁粒幼红细胞
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611543):
Cavitary optic disc anomalies
CAVITARY OPTIC DISC ANOMALIES

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:617132):
Developmental and epileptic encephalopathy 44
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:618201):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68
Epileptic encephalopathy, early infantile, 68

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:603147):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
Congenital disorder of glycosylation, type Ic

Associated phenotypes (HPO):
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0008150
hpo_term: Elevated serum transaminases during infections
chpo_term: 感染期血清转氨酶升高
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
Disease (OMIM:615725):
RETINITIS PIGMENTOSA 68
Retinitis pigmentosa 68

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:142340):
Diaphragmatic hernia, congenital
DIAPHRAGMATIC HERNIA, CONGENITAL

Associated phenotypes (HPO):
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
Disease (OMIM:259900):
Hyperoxaluria, primary, type I
HYPEROXALURIA, PRIMARY, TYPE I

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003159
hpo_term: Hyperoxaluria
chpo_term: 高草酸尿症
id: HP:0025324
hpo_term: Arterial occlusion
chpo_term: 动脉闭塞
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0025520
hpo_term: Calcinosis cutis
chpo_term: 皮肤钙质沉着症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000431
id: HP:0035005
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0004950
hpo_term: Peripheral arterial stenosis
chpo_term: 外周动脉狭窄
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0030507
hpo_term: Retinal crystals
chpo_term: 视网膜结晶
id: HP:6000702
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
Disease (OMIM:615731):
Nemaline myopathy 9
NEMALINE MYOPATHY 9

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
Disease (OMIM:263450):
Polydactyly, postaxial, type A5
POLYDACTYLY, POSTAXIAL, TYPE A5

Associated phenotypes (HPO):
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
Disease (OMIM:617126):
ALAZAMI-YUAN SYNDROME
Alazami-Yuan syndrome

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
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:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:606995):
Senior-Loken syndrome 3
SENIOR-LOKEN SYNDROME 3

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000108
hpo_term: Renal corticomedullary cysts
chpo_term: 肾皮髓质交界处囊肿
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
Disease (OMIM:618573):
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7
Hypothyroidism, congenital, nongoitrous, 7

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0033082
hpo_term: Reduced TSH response to thyrotrophin-releasing hormone stimulation test
chpo_term: 促甲状腺激素释放激素刺激试验引起的TSH降低
Disease (OMIM:607453):
Deafness, autosomal dominant 44
DEAFNESS, AUTOSOMAL DOMINANT 44

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0011390
hpo_term: Morphological abnormality of the inner ear
chpo_term: 内耳形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617898):
MULTIPLE SYNOSTOSES SYNDROME 4
Multiple synostoses syndrome 4

Associated phenotypes (HPO):
id: HP:0000362
hpo_term: Otosclerosis
chpo_term: 耳硬化症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传