TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:612199):
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
Cerebroretinal microangiopathy with calcifications and cysts 1

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
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: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:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
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:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002604
hpo_term: Gastrointestinal telangiectasia
chpo_term: 胃肠道毛细血管扩张
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0007898
hpo_term: Exudative retinopathy
chpo_term: 渗出性视网膜病变
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
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:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:613287):
Charcot-Marie-Tooth disease, axonal, type 2N
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:300018):
46,XY SEX REVERSAL 2
Dosage-Sensitive sex reversal

Associated phenotypes (HPO):
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:611490):
OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4
Osteopetrosis, autosomal recessive 4

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0004576
hpo_term: Sclerotic vertebral endplates
chpo_term: 椎体终板硬化
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:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
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:0001903
hpo_term: Anemia
chpo_term: 贫血
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:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:245550):
LAMBERT SYNDROME
Lambert syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0005248
hpo_term: Intrahepatic biliary atresia
chpo_term: 肝内胆道闭锁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:619972):
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

Associated phenotypes (HPO):
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0040010
hpo_term: Small posterior fossa
chpo_term: 后颅窝小
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200012
hpo_term: Short corpus callosum
chpo_term: 短胼胝体
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:232900):
GLYCOPROTEIN STORAGE DISEASE
Glycoprotein storage disease

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
Disease (OMIM:607594):
Immunodeficiency, common variable, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1

Associated phenotypes (HPO):
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: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:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:617787):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
Mental retardation, autosomal dominant 50

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:260920):
Hyper-Igd syndrome
HYPER-IgD SYNDROME

Associated phenotypes (HPO):
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0032638
hpo_term: Elevated urine mevalonic acid
chpo_term: 尿中甲羟戊酸升高
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0045073
hpo_term: Serositis
chpo_term: 浆膜腔炎症
id: HP:0032163
hpo_term: Molluscum contagiosum
chpo_term: 接触传染性软疣
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0410246
hpo_term: Increased circulating IgD level
chpo_term: 血液IgD升高
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
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:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
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:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:615190):
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Dyskeratosis congenita, autosomal recessive 5

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:615184):
CARDIOMYOPATHY, DILATED, 1II
Cardiomyopathy, dilated, 1II

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:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
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:0012665
hpo_term: Moderately reduced left ventricular ejection fraction
chpo_term: 左心室射血分数中度降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:619966):
Spastic paraplegia 87, autosomal recessive
SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE

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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:185900):
Chromosome 2q35 duplication syndrome
CHROMOSOME 2q35 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620659):
AMYLOIDOSIS, HEREDITARY SYSTEMIC 6
Amyloidosis, hereditary systemic 6

Associated phenotypes (HPO):
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0100292
hpo_term: Amyloidosis of peripheral nerves
chpo_term: 周围神经的淀粉样变性病
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012280
hpo_term: Hepatic amyloidosis
chpo_term: 肝淀粉样变性
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:177200):
LIDDLE SYNDROME 1
Liddle syndrome 1

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001949
hpo_term: Hypokalemic alkalosis
chpo_term: 低钾性碱中毒
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615812):
ABDOMINAL OBESITY-METABOLIC SYNDROME 3
Abdominal obesity-metabolic syndrome 3

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0005145
hpo_term: Coronary artery stenosis
chpo_term: 冠状动脉狭窄
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:173700):
POIKILODERMA, HEREDITARY SCLEROSING
Poikiloderma, hereditary sclerosing

Associated phenotypes (HPO):
id: HP:0007618
hpo_term: Subcutaneous calcification
chpo_term: 皮下钙化
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
Disease (OMIM:617977):
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
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:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
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:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:620103):
SPERMATOGENIC FAILURE 77
Spermatogenic failure 77

Associated phenotypes (HPO):
id: HP:0034309
hpo_term: Multiflagellar spermatozoa
chpo_term: 多尾精子
id: HP:0030345
hpo_term: Abnormal circulating luteinizing hormone concentration
chpo_term: 血液黄体生成素水平异常
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0030087
hpo_term: Abnormal circulating testosterone concentration
chpo_term: 血液睾酮水平异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:603902):
Thalassemia-beta, dominant inclusion-body
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE

Associated phenotypes (HPO):
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0045048
hpo_term: Increased HbA2 hemoglobin
chpo_term: 血红蛋白HbA2增多
id: HP:0025547
hpo_term: Decreased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量减低
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0020080
hpo_term: Erythrocyte inclusion bodies
chpo_term: 红细胞包涵体
Disease (OMIM:240400):
HYPOASCORBEMIA

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:132990):
ERYTHEMA NODOSUM, FAMILIAL
Erythema nodosum, familial

Associated phenotypes (HPO):
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
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:300030):
DEAFNESS, X-LINKED 3
Deafness, X-linked 3

Associated phenotypes (HPO):
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:128710):
EAR PITS, POSTERIOR HELICAL
Ear pits, posterior helical

Associated phenotypes (HPO):
id: HP:0008523
hpo_term: Posterior helix pit
chpo_term: 耳轮后凹陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:244100):
Jumping frenchman of maine
JUMPING FRENCHMEN OF MAINE

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传