TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:604173):
POIKILODERMA WITH NEUTROPENIA
Poikiloderma with neutropenia

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
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:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0007588
hpo_term: Reticular hyperpigmentation
chpo_term: 网状色素沉着
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
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:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
Disease (OMIM:236450):
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME
Hutterite cerebroosteonephrodysplasia syndrome

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:241800):
Pallister-Hall-like syndrome
PALLISTER-HALL-LIKE SYNDROME

Associated phenotypes (HPO):
id: HP:0002444
hpo_term: Hypothalamic hamartoma
chpo_term: 下丘脑错构瘤
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010820
hpo_term: Focal emotional seizure with crying
chpo_term: 伴哭泣的局灶情绪性发作
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0030765
hpo_term: Sleep terror
chpo_term: 睡惊症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009733
hpo_term: Glioma
chpo_term: 神经胶质瘤
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:616577):
Epilepsy, hearing loss, and mental retardation syndrome
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
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:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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: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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:619644):
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 91 and hyperinflammation

Associated phenotypes (HPO):
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005575
hpo_term: Hemolytic-uremic syndrome
chpo_term: 溶血性尿毒症综合征
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0012311
hpo_term: Monocytosis
chpo_term: 单核细胞增多症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0040197
hpo_term: Encephalomalacia
chpo_term: 脑软化症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
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:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0005548
hpo_term: Megakaryocytopenia
chpo_term: 巨核细胞减少症
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0020087
hpo_term: BCGosis
chpo_term: 接种卡介苗后远处或播散性感染
id: HP:0033399
hpo_term: Persistent fever
chpo_term: 持续性发热
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0032271
hpo_term: Extrapulmonary tuberculosis
chpo_term: 肺外结核
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:606764):
GASTROINTESTINAL STROMAL TUMOR
Gastrointestinal stromal tumor

Associated phenotypes (HPO):
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0100723
hpo_term: Gastrointestinal stroma tumor
chpo_term: 胃肠道间质肿瘤
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300848):
Mental retardation, X-linked 89
MENTAL RETARDATION, X-LINKED 89

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:264470):
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Peroxisomal acyl-CoA oxidase deficiency

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:6000217
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006555
hpo_term: Diffuse hepatic steatosis
chpo_term: 弥漫性肝脂肪变性
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
id: HP:0008763
hpo_term: No social interaction
chpo_term: 无社会交往
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617669):
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012510
hpo_term: Extra-axial cerebrospinal fluid accumulation
chpo_term: 轴外脑脊液蓄积
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0034311
hpo_term: Hypoplastic optic chiasm
chpo_term: 视交叉发育不全
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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:606002):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
Spinocerebellar ataxia, autosomal recessive 1

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
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:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
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:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
Disease (OMIM:619122):
Vertebral hypersegmentation and orofacial anomalies
VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES

Associated phenotypes (HPO):
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
id: HP:0011261
hpo_term: Darwin tubercle of helix
chpo_term: 耳轮达尔文结节
id: HP:0100334
hpo_term: Unilateral cleft palate
chpo_term: 单侧腭裂
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0008416
hpo_term: Six lumbar vertebrae
chpo_term: 六块腰椎
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
Disease (OMIM:617127):
OROFACIODIGITAL SYNDROME XV
Orofaciodigital syndrome XV

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0009084
hpo_term: Midline notch of upper alveolar ridge
chpo_term: 上牙床中线缺口
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010066
hpo_term: Duplication of phalanx of hallux
chpo_term: 拇趾骨重复
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:611556):
Glycogen storage disease 0, muscle
GLYCOGEN STORAGE DISEASE 0, MUSCLE

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0012270
hpo_term: Decreased muscle glycogen content
chpo_term: 肌糖原含量减少
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受