TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620475):
Thrombocytopenia 8, with dysmorphic features and developmental delay
THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:4000170
id: HP:0032438
hpo_term: Platelet anisocytosis
chpo_term: 血小板大小异常不均
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
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:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:603284):
Cerebral cavernous malformations 2
CEREBRAL CAVERNOUS MALFORMATIONS 2

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0033522
hpo_term: Cerebral cavernous malformation
chpo_term: 脑海绵状血管瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614920):
Peroxisome biogenesis disorder 14B
PEROXISOME BIOGENESIS DISORDER 14B

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
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:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:612389):
Pontocerebellar hypoplasia, type 2B
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0007308
hpo_term: Extrapyramidal dyskinesia
chpo_term: 锥体外系运动障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
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:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:600955):
PROPROTEIN CONVERTASE 1/3 DEFICIENCY
Proprotein convertase 1/3 deficiency

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040216
hpo_term: Hypoinsulinemia
chpo_term: 低胰岛素血症
id: HP:6000419
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:601493):
Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction
CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0006685
hpo_term: Endocardial fibrosis
chpo_term: 心内膜纤维化
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
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:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:301116):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113
Intellectual developmental disorder, X-linked 113

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (OMIM:117900):
CERVICAL RIB
Cervical rib

Associated phenotypes (HPO):
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616851):
CATARACT 45
Cataract 45

Associated phenotypes (HPO):
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:129150):
Echo virus 11 sensitivity
ECHO VIRUS 11 SENSITIVITY

Associated phenotypes (HPO):
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616689):
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
Dehydrated hereditary stomatocytosis 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0020122
hpo_term: Bite cells
chpo_term: 咬痕细胞
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:400047):
DEAFNESS, Y-LINKED 2

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001450
hpo_term: Y-linked inheritance
chpo_term: Y-连锁遗传
Disease (OMIM:257350):
Nuchal bleb, familial
NUCHAL BLEB, FAMILIAL

Associated phenotypes (HPO):
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0010878
hpo_term: Fetal cystic hygroma
chpo_term: 胎儿囊状水瘤
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
Disease (OMIM:609965):
DEAFNESS, AUTOSOMAL DOMINANT 53
Deafness, autosomal dominant 53

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:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618868):
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0033048
hpo_term: Substantia nigra hypointensity on susceptibility-weighted imaging
chpo_term: SWI序列黑质低信号
id: HP:0033049
hpo_term: Globus pallidus hypointensity on susceptibility-weighted imaging
chpo_term: SWI序列苍白球低信号
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
Disease (OMIM:611694):
DYSTONIA WITH CEREBELLAR ATROPHY
Dystonia with cerebellar atrophy

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:620449):
IMMUNODEFICIENCY 112
Immunodeficiency 112

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
id: HP:0020087
hpo_term: BCGosis
chpo_term: 接种卡介苗后远处或播散性感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0500271
hpo_term: Decreased proportion of gamma-delta T cells
chpo_term: γ-δT细胞比例减低
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0100828
hpo_term: Increased T cell count
chpo_term: T细胞数目增多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0005404
hpo_term: Increased B cell count
chpo_term: B细胞数量增多
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:614934):
Deafness, autosomal recessive 70
DEAFNESS, AUTOSOMAL RECESSIVE 70

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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
Disease (OMIM:607791):
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
Charcot-Marie-Tooth disease, dominant intermediate D

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003481
hpo_term: Segmental peripheral demyelination/remyelination
chpo_term: 节段性神经末梢脱髓鞘/髓鞘再生
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615395):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
Combined oxidative phosphorylation deficiency 16

Associated phenotypes (HPO):
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
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:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
Disease (OMIM:614935):
CILIARY DYSKINESIA, PRIMARY, 19
Ciliary dyskinesia, primary, 19

Associated phenotypes (HPO):
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:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012259
hpo_term: Absent inner and outer dynein arms
chpo_term: 内、外动力蛋白臂缺如
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:620448):
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

Associated phenotypes (HPO):
id: HP:6000461
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
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: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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:300209):
Simpson-Golabi-Behmel syndrome, type 2
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
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:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:601492):
MUCOPOLYSACCHARIDOSIS, TYPE IX
Mucopolysaccharidosis type IX

Associated phenotypes (HPO):
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0005072
hpo_term: Hyperextensibility at wrists
chpo_term: 手腕背伸过度
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:6000969
id: HP:0032072
hpo_term: Popliteal synovial cyst
chpo_term: 腘窝滑膜囊肿
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0010485
hpo_term: Hyperextensibility at elbow
chpo_term: 肘关节过伸
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0033640
hpo_term: Acetabular erosions
chpo_term: 髋臼侵蚀
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0020127
hpo_term: Periarticular soft-tissue mass
chpo_term: 关节周围软组织肿块
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
Disease (OMIM:603285):
CEREBRAL CAVERNOUS MALFORMATIONS 3
Cerebral cavernous malformations 3

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0033522
hpo_term: Cerebral cavernous malformation
chpo_term: 脑海绵状血管瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:303700):
Blue cone monochromacy
BLUE CONE MONOCHROMACY

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007939
hpo_term: Blue cone monochromacy
chpo_term: 蓝锥单色盲
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0008002
hpo_term: Abnormality of macular pigmentation
chpo_term: 黄斑色素沉着异常
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视