TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:612348):
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR
Thrombophilia due to decreased release of tissue plasminogen

Associated phenotypes (HPO):
id: HP:0004850
hpo_term: Recurrent deep vein thrombosis
chpo_term: 复发性深静脉血栓形成
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600994):
Deafness, autosomal dominant nonsyndromic sensorineural 5
DEAFNESS, AUTOSOMAL DOMINANT 5

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:235500):
HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN
Hemosiderosis, pulmonary, with deficiency of gamma-A globulin

Associated phenotypes (HPO):
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:618103):
Intellectual developmental disorder, autosomal recessive 64
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
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
Disease (OMIM:619209):
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7
Erythrokeratodermia variabilis et progressiva 7

Associated phenotypes (HPO):
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
Disease (OMIM:106600):
TOOTH AGENESIS, SELECTIVE, 1
Tooth agenesis, selective, 1

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618117):
OVARIAN DYSGENESIS 7
Ovarian dysgenesis 7

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:615433):
Chromosome 3q13.31 deletion syndrome
CHROMOSOME 3q13.31 DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0006988
hpo_term: Alobar holoprosencephaly
chpo_term: 无脑叶畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:615355):
NOONAN SYNDROME 8
Noonan syndrome 8

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:186000):
SYNPOLYDACTYLY 1
Synpolydactyly 1

Associated phenotypes (HPO):
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0008083
hpo_term: 2nd-5th toe middle phalangeal hypoplasia
chpo_term: 第二-五趾中间趾骨发育不全
id: HP:0009185
hpo_term: Contracture of the proximal interphalangeal joint of the 5th finger
chpo_term: 第五指近节指间关节挛缩
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0006042
hpo_term: Y-shaped metacarpals
chpo_term: Y形掌骨
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006159
hpo_term: Mesoaxial hand polydactyly
chpo_term: 中轴多指畸形
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001501
hpo_term: 6 metacarpals
chpo_term: 6块掌骨
Disease (OMIM:602629):
DYSTONIA 6, TORSION
Dystonia 6, torsion

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0031008
hpo_term: Lingual dystonia
chpo_term: 舌肌肌张力障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:613724):
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Leukoencephalopathy with dystonia and motor neuropathy

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0034721
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0012692
hpo_term: Focal T2 hyperintense thalamic lesion
chpo_term: 丘脑局灶性T2高信号病变
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:102300):
RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
Restless legs syndrome, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0008991
hpo_term: Exercise-induced leg cramps
chpo_term: 运动诱发腿抽筋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617542):
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Gaze palsy, familial horizontal, with progressive scoliosis, 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0030301
hpo_term: Abnormality of the anterior commissure
chpo_term: 前连合异常
id: HP:0007817
hpo_term: Horizontal supranuclear gaze palsy
chpo_term: 水平核上性凝视麻痹
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: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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010664
hpo_term: Fusion of the left and right thalami
chpo_term: 左右丘脑融合
id: HP:0033646
hpo_term: Absent hippocampal commissure
chpo_term: 海马联合缺失
id: HP:0033645
hpo_term: Midline brainstem cleft
chpo_term: 脑干中线裂
id: HP:0032327
hpo_term: Interhemispheric cyst
chpo_term: 半球间囊肿
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
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:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
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
Disease (OMIM:614063):
N-acetylaspartate deficiency
N-ACETYLASPARTATE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:610205):
ALAGILLE SYNDROME 2
Alagille syndrome 2

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
Disease (OMIM:107250):
ANTERIOR SEGMENT DYSGENESIS 1
Anterior segment dysgenesis 1

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0001115
hpo_term: Posterior polar cataract
chpo_term: 后极性白内障
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618881):
GALACTOSEMIA IV
Galactosemia IV

Associated phenotypes (HPO):
id: HP:0012024
hpo_term: Hypergalactosemia
chpo_term: 高半乳糖血症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:619221):
Sulfide:quinone oxidoreductase deficiency
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:247800):
Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis
LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0030150
hpo_term: Plasmacytosis
chpo_term: 浆细胞增多症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
Disease (OMIM:230450):
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO

Associated phenotypes (HPO):
id: HP:6000132
id: HP:0006904
hpo_term: Late-onset spinocerebellar degeneration
chpo_term: 迟发性脊髓小脑变性
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:6000834
Disease (OMIM:616106):
Psoriasis 15, pustular, susceptibility to
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600002):
EIKEN SYNDROME
Eiken syndrome

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0032524
hpo_term: Long thumb
chpo_term: 长拇指
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0009371
hpo_term: Type A1 brachydactyly
chpo_term: A1型短指
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0010584
hpo_term: Pseudoepiphyses
chpo_term: 假骨骺
id: HP:0006283
hpo_term: Multiple unerupted teeth
chpo_term: 多个未萌出牙
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0000706
hpo_term: Eruption failure
chpo_term: 牙萌出失败
id: HP:0008103
hpo_term: Delayed tarsal ossification
chpo_term: 跗骨骨化延迟
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
Disease (OMIM:619553):
Deafness, autosomal recessive 118, with cochlear aplasia
DEAFNESS, AUTOSOMAL RECESSIVE 118, WITH COCHLEAR APLASIA

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0011375
hpo_term: Cochlear aplasia
chpo_term: 耳蜗不发育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:615369):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
Develomental and epileptic encephalopathy 94

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
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:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0031475
hpo_term: Status epilepticus without prominent motor symptoms
chpo_term: 非惊厥性癫痫持续状态
id: HP:0012000
hpo_term: EEG with generalized spikes
chpo_term: 脑电图，广泛性棘波
id: HP:0012001
hpo_term: EEG with generalized polyspikes
chpo_term: 脑电图，广泛性多棘波
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
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
id: HP:0020216
hpo_term: Visually-induced seizure
chpo_term: 视觉诱发性癫痫发作
Disease (OMIM:612406):
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE
Dystonia 17, torsion, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传