TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:610832):
FANCONI ANEMIA, COMPLEMENTATION GROUP N
Fanconi anemia, complementation group N

Associated phenotypes (HPO):
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:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003221
hpo_term: Chromosomal breakage induced by crosslinking agents
chpo_term: 交联剂诱发的染色体断裂
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:169600):
BENIGN CHRONIC PEMPHIGUS
Benign chronic pemphigus

Associated phenotypes (HPO):
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619816):
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
Epidermolysis bullosa, junctional 5A, intermediate

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0008400
hpo_term: Onycholysis of distal fingernails
chpo_term: 指甲末端甲分离
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0034193
hpo_term: Stratum basale cleavage
chpo_term: 基底层裂隙
id: HP:0020117
hpo_term: Hypoplastic dermoepidermal hemidesmosomes
chpo_term: 真皮表皮交界处半小体发育不良
Disease (OMIM:613485):
LONG QT SYNDROME 13
Long QT syndrome 13

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001664
hpo_term: Torsade de pointes
chpo_term: 尖端扭转型室性心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:612943):
RETINITIS PIGMENTOSA 42
Retinitis pigmentosa 42

Associated phenotypes (HPO):
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0030629
hpo_term: Perifoveal ring of hyperautofluorescence
chpo_term: 中央凹周边强自动荧光环
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:602588):
Branchiootic syndrome 1
BRANCHIOOTIC SYNDROME 1

Associated phenotypes (HPO):
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0009795
hpo_term: Branchial fistula
chpo_term: 鳃裂瘘管
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008554
hpo_term: Cochlear malformation
chpo_term: 耳蜗畸形
id: HP:0008586
hpo_term: Hypoplasia of the cochlea
chpo_term: 耳蜗发育不全
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004458
hpo_term: Dilatated internal auditory canal
chpo_term: 内听道扩大
Disease (OMIM:124700):
Deafness, mid-tone neural
DEAFNESS, MID-TONE NEURAL

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:217400):
Corneal endothelial dystrophy and perceptive deafness
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0410280
hpo_term: Pediatric onset
chpo_term: 童年发病
Disease (OMIM:610198):
3-methylglutaconic aciduria, type V
3-METHYLGLUTACONIC ACIDURIA, TYPE V

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0004856
hpo_term: Normochromic microcytic anemia
chpo_term: 小细胞正色素性贫血
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
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:0003344
hpo_term: 3-Methylglutaric aciduria
chpo_term: 3-甲基戊二酸尿症
id: HP:0012817
hpo_term: Noncompaction cardiomyopathy
chpo_term: 心肌致密化不全
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:619802):
Immunodeficiency 97 with autoinflammation
IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION

Associated phenotypes (HPO):
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
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:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0500266
hpo_term: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
chpo_term: CD8阳性的终末效应性α-β T细胞比例减低
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002851
hpo_term: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
chpo_term: CD4和CD8双阴性的α-β 调节性 T 细胞比例增高
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011945
hpo_term: Bronchiolitis obliterans organizing pneumonia
chpo_term: 闭塞性细支气管炎机化性肺炎
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020113
hpo_term: Decreased proportion of CD4+CD25+ regulatory T cells
chpo_term: CD4+CD25+调节性T细胞比例降低
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
Disease (OMIM:614498):
Rigidity and multifocal seizure syndrome, lethal neonatal
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
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:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
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
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
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:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0032663
hpo_term: Focal motor status epilepticus
chpo_term: 局灶性运动癫痫持续状态
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
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:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:241120):
Hypohidrosis with abnormal palmar dermal ridges
HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES

Associated phenotypes (HPO):
id: HP:0007608
hpo_term: Abnormal palmar dermal ridges
chpo_term: 手掌侧皮肤脊异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0007500
hpo_term: Decreased number of sweat glands
chpo_term: 汗腺数目减少
Disease (OMIM:608099):
Muscular dystrophy, limb-girdle, type 2D
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3

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:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003797
hpo_term: Limb-girdle muscle atrophy
chpo_term: 肢带肌萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:620715):
Bleeding disorder, vascular-type
BLEEDING DISORDER, VASCULAR-TYPE

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040184
hpo_term: Oral bleeding
chpo_term: 口腔出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
Disease (OMIM:133240):
ESOPHAGEAL RING, LOWER
Esophageal ring, lower

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617807):
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER

Associated phenotypes (HPO):
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
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:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:212550):
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Optic disc anomalies with retinal and/or macular dystrophy

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:265900):
PYLE DISEASE
Pyle disease

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002738
hpo_term: Hypoplastic frontal sinuses
chpo_term: 额窦发育不全
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002689
hpo_term: Absent paranasal sinuses
chpo_term: 副鼻窦缺如
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
Disease (OMIM:620067):
Cardiac valvular dysplasia 2
CARDIAC VALVULAR DYSPLASIA 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0025168
hpo_term: Left ventricular diastolic dysfunction
chpo_term: 左心室舒张功能障碍
id: HP:0005176
hpo_term: Dysplastic aortic valve
chpo_term: 主动脉瓣发育不良
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
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:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0034032
hpo_term: Central cyanosis
chpo_term: 中心性发绀
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0004927
hpo_term: Pulmonary artery dilatation
chpo_term: 肺动脉扩张
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄