TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:602433):
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
Amyotrophic lateral sclerosis 4, juvenile

Associated phenotypes (HPO):
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0030007
hpo_term: EMG: positive sharp waves
chpo_term: 肌电图: 正锐波
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0006825
hpo_term: Pallor of dorsal columns of the spinal cord
chpo_term: 脊髓背侧柱苍白
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0033383
hpo_term: Decreased compound muscle action potential amplitude
chpo_term: 复合肌肉动作电位波幅降低
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0003405
hpo_term: Diffuse axonal swelling
chpo_term: 弥漫性轴索肿胀
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:617770):
SPINOCEREBELLAR ATAXIA 46
Spinocerebellar ataxia 46

Associated phenotypes (HPO):
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0008003
hpo_term: Jerky ocular pursuit movements
chpo_term: 急速眼追踪运动
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619985):
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25
Glycosylphosphatidylinositol biosynthesis defect 25

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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003282
hpo_term: Low alkaline phosphatase
chpo_term: 低碱性磷酸酶
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:614279):
46,xy sex reversal 8
46,XY SEX REVERSAL 8

Associated phenotypes (HPO):
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:613270):
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
Corneal dystrophy, fuchs endothelial, 6

Associated phenotypes (HPO):
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012038
hpo_term: Corneal guttata
chpo_term: 角膜液滴样病变
Disease (OMIM:618325):
Lissencephaly 9 with complex brainstem malformation
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
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: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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025101
hpo_term: Dysgenesis of the hippocampus
chpo_term: 海马回发育不全
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
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:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0100307
hpo_term: Cerebellar hemisphere hypoplasia
chpo_term: 小脑半球发育不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0030303
hpo_term: Hypoplastic anterior commissure
chpo_term: 前连合发育不全
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0034405
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618331):
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
Disease (OMIM:615615):
IMMUNODEFICIENCY 18
Immunodeficiency 18

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0003460
hpo_term: Decreased circulating total IgA
chpo_term: 循环总 IgA 降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0031379
hpo_term: Abnormal T cell proliferation
chpo_term: T细胞异常增殖
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0040088
hpo_term: Abnormal lymphocyte count
chpo_term: 淋巴细胞计数异常
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:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
Disease (OMIM:613502):
Agammaglobulinemia 4, autosomal recessive
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:250800):
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Methemoglobinemia due to deficiency of methemoglobin reductase

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:6000133
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012119
hpo_term: Methemoglobinemia
chpo_term: 高铁血红蛋白血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
Disease (OMIM:207780):
AREDYLD

Associated phenotypes (HPO):
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004528
hpo_term: Generalized hypotrichosis
chpo_term: 泛发性少毛症
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:618457):
DEAFNESS, AUTOSOMAL RECESSIVE 115
Deafness, autosomal recessive 115

Associated phenotypes (HPO):
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
Disease (OMIM:608644):
Ciliary dyskinesia, primary, 3, with or without situs inversus
CILIARY DYSKINESIA, PRIMARY, 3

Associated phenotypes (HPO):
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
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:252150):
Molybdenum cofactor deficiency, complementation group A
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011935
hpo_term: Decreased urinary urate
chpo_term: 尿液中尿酸盐减少
id: HP:0011814
hpo_term: Increased urinary hypoxanthine
chpo_term: 尿次黄嘌呤增高
id: HP:0003570
hpo_term: Molybdenum cofactor deficiency
chpo_term: 钼辅助因子缺乏
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003808
hpo_term: Abnormal muscle tone
chpo_term: 肌张力异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0003606
hpo_term: Absent urinary urothione
chpo_term: 尿硫蝶呤缺乏
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002932
hpo_term: Aldehyde oxidase deficiency
chpo_term: 醛氧化酶缺乏症
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003643
hpo_term: Sulfite oxidase deficiency
chpo_term: 亚硫酸氧化酶缺乏症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0010934
hpo_term: Xanthinuria
chpo_term: 黄嘌呤尿症
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0003166
hpo_term: Increased urinary taurine
chpo_term: 尿牛磺酸增加
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0011942
hpo_term: Increased urinary sulfite
chpo_term: 尿亚硫酸盐增加
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0012019
hpo_term: Lens luxation
chpo_term: 晶状体脱位
id: HP:0011943
hpo_term: Increased urinary thiosulfate
chpo_term: 尿硫代硫酸盐增加
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0034744
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000804
hpo_term: Xanthine nephrolithiasis
chpo_term: 肾黄嘌呤结石
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0003534
hpo_term: Reduced xanthine dehydrogenase level
chpo_term: 黄嘌呤脱氢酶活性降低
id: HP:0003359
hpo_term: Decreased urinary sulfate
chpo_term: 尿硫酸盐减少
Disease (OMIM:300602):
MOVED TO 617752
Clark-Baraitser syndrome

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001593
hpo_term: Maxillary lateral incisor microdontia
chpo_term: 上颌侧切牙小牙畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0002711
hpo_term: Exaggerated median tongue furrow
chpo_term: 夸张的正中舌沟
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002054
hpo_term: Heavy supraorbital ridges
chpo_term: 眶上嵴重厚
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0002708
hpo_term: Prominent median palatal raphe
chpo_term: 腭中缝突起
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:200170):
ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT
Acanthosis nigricans with muscle cramps and acral enlargement

Associated phenotypes (HPO):
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
Disease (OMIM:612783):
Immunodeficiency 10
IMMUNODEFICIENCY 10

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0100726
hpo_term: Kaposi's sarcoma
chpo_term: 卡波西肉瘤
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0040088
hpo_term: Abnormal lymphocyte count
chpo_term: 淋巴细胞计数异常
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0032297
hpo_term: Increased circulating IgG3 level
chpo_term: 血液IgG3增多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:615952):
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
Autoimmune disease, multisystem, infantile-onset, 1

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005942
hpo_term: Desquamative interstitial pneumonitis
chpo_term: 脱屑间质性肺炎
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614494):
Retinitis pigmentosa 63
RETINITIS PIGMENTOSA 63

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:221800):
DERMOCHONDROCORNEAL DYSTROPHY
Dermochondrocorneal dystrophy

Associated phenotypes (HPO):
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0008134
hpo_term: Irregular tarsal ossification
chpo_term: 跗骨不规则骨化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007795
hpo_term: Anterior cortical cataract
chpo_term: 前皮质性白内障
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
Disease (OMIM:256450):
Hyperinsulinemic hypoglycemia, familial, 1
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

Associated phenotypes (HPO):
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷