TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607829):
MITRAL VALVE PROLAPSE 2
Mitral valve prolapse, myxomatous 2

Associated phenotypes (HPO):
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
Disease (OMIM:611093):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
Intellectual developmental disorder, autosomal recessive 7

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:613874):
Cardiomyopathy, familial hypertrophic, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300433):
MENTAL RETARDATION, X-LINKED 81
Mental retardation, X-linked 81

Associated phenotypes (HPO):
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:600808):
Enuresis, nocturnal, 2
ENURESIS, NOCTURNAL, 2

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
Disease (OMIM:620500):
SPERMATOGENIC FAILURE 87
Spermatogenic failure 87

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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:6000501
Disease (OMIM:300355):
MENTAL RETARDATION, X-LINKED 73
Mental retardation, X-linked 73

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
Disease (OMIM:314320):
Trigonocephaly with short stature and developmental delay
TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000187
hpo_term: Broad alveolar ridges
chpo_term: 宽牙槽嵴
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005494
hpo_term: Premature posterior fontanelle closure
chpo_term: 后囟门过早闭合
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
Disease (OMIM:614869):
USHER SYNDROME, TYPE IJ
Usher syndrome, type IJ

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:242600):
IMINOGLYCINURIA

Associated phenotypes (HPO):
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:620514):
Immune dysregulation, autoimmunity, and autoinflammation
IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0032436
hpo_term: Abnormal C-reactive protein level
chpo_term: C反应蛋白水平异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0034751
id: HP:0033178
hpo_term: Increased circulating interleukin 8 concentration
chpo_term: 循环白细胞介素8水平升高
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:618935):
Chronic granulomatous disease 5, autosomal recessive
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5

Associated phenotypes (HPO):
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
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:0012390
hpo_term: Anal fissure
chpo_term: 肛裂
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0011110
hpo_term: Recurrent tonsillitis
chpo_term: 复发性扁桃体炎
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
Disease (OMIM:613860):
FICOLIN 3 DEFICIENCY
Immunodeficiency due to ficolin 3 deficiency

Associated phenotypes (HPO):
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0033165
hpo_term: Necrotizing enterocolitis
chpo_term: 坏死性小肠结肠炎
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
Disease (OMIM:246300):
Leprosy, susceptibility to
LEPROSY, SUSCEPTIBILITY TO, 3

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:615222):
Smith-Mccort dysplasia 2
SMITH-MCCORT DYSPLASIA 2

Associated phenotypes (HPO):
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0012428
hpo_term: Prominent calcaneus
chpo_term: 跟骨突出
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
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:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0006247
hpo_term: Enlarged interphalangeal joints
chpo_term: 指（趾）间关节膨大
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:607626):
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005248
hpo_term: Intrahepatic biliary atresia
chpo_term: 肝内胆道闭锁
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
Disease (OMIM:617435):
LOPES-MACIEL-RODAN SYNDROME
Lopes-Maciel-Rodan syndrome

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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: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:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:618060):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0012076
hpo_term: Borderline personality disorder
chpo_term: 边缘性人格障碍
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0025097
hpo_term: Eyelid myoclonus
chpo_term: 眼睑肌阵挛
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:611722):
Krabbe disease, atypical, due to saposin A deficiency
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:615544):
PERIVENTRICULAR NODULAR HETEROTOPIA 6
Periventricular nodular heterotopia 6

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
Disease (OMIM:614882):
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
Peroxisome biogenesis disorder 10A (Zellweger)

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:613135):
PARKINSONISM-DYSTONIA, INFANTILE, 1
Parkinsonism-Dystonia, infantile, 1

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
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:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
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:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0034201
hpo_term: Increased CSF homovanillic acid concentration
chpo_term: 脑脊液高香脑酸水平增加
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0031931
hpo_term: Ocular flutter
chpo_term: 眼颤振
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:615550):
DIAMOND-BLACKFAN ANEMIA 12
Diamond-Blackfan anemia 12

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0030270
hpo_term: Elevated red cell adenosine deaminase level
chpo_term: 红细胞腺苷脱氨酶活性增高
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614896):
Sinoatrial node dysfunction and deafness
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS

Associated phenotypes (HPO):
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:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031862
hpo_term: Increased heart rate variability
chpo_term: 心率变异性升高
id: HP:0025074
hpo_term: Abnormal QRS complex
chpo_term: QRS波群异常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
Disease (OMIM:133900):
Hemifacial hyperplasia
HEMIFACIAL HYPERPLASIA

Associated phenotypes (HPO):
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:618074):
Epilepsy, familial adult myoclonic, 6
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6

Associated phenotypes (HPO):
id: HP:0033054
hpo_term: Myoclonic tremor
chpo_term: 肌阵挛性震颤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616059):
MIRROR MOVEMENTS 3
Mirror movements 3

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动