TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:615577):
Immunodeficiency, common variable, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10

Associated phenotypes (HPO):
id: HP:0005215
hpo_term: Frequent Giardia lamblia infestation
chpo_term: 频繁蓝氏贾第鞭毛虫感染
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0031074
hpo_term: Abnormal response to ACTH stimulation test
chpo_term: ACTH刺激试验反应异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0410028
hpo_term: Recurrent oral herpes
chpo_term: 复发性口腔疱疹
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0030804
hpo_term: Trachyonychia
chpo_term: 指甲粗糙脆裂
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
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:0033166
hpo_term: Recurrent viral upper respiratory tract infections
chpo_term: 复发性病毒性上呼吸道感染
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:614669):
Auriculocondylar syndrome 2
AURICULOCONDYLAR SYNDROME 2

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0025267
hpo_term: Snoring
chpo_term: 打鼾
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0008537
hpo_term: Cleft at the superior portion of the pinna
chpo_term: 上部耳廓裂
id: HP:0008559
hpo_term: Hypoplastic superior helix
chpo_term: 耳轮上部发育不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0007627
hpo_term: Mandibular condyle aplasia
chpo_term: 下颌骨髁发育不全
id: HP:0007628
hpo_term: Mandibular condyle hypoplasia
chpo_term: 下颌骨髁发育不全
id: HP:0004453
hpo_term: Overfolding of the superior helices
chpo_term: 耳轮上部过度卷曲
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
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:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0003778
hpo_term: Short mandibular rami
chpo_term: 下颌支短
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
Disease (OMIM:613660):
CONE-ROD DYSTROPHY 15
Cone-rod dystrophy 15

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:268025):
Retinitis pigmentosa, late-adult onset
RETINITIS PIGMENTOSA, LATE-ADULT ONSET

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:609638):
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
Epidermolysis bullosa, lethal acantholytic

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0008094
hpo_term: Widely spaced toes
chpo_term: 趾间距宽
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0009884
hpo_term: Tapered distal phalanges of finger
chpo_term: 锥形末节指骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:617406):
Bardet-Biedl syndrome 21
BARDET-BIEDL SYNDROME 21

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0030631
hpo_term: Hyperautofluorescent macular lesion
chpo_term: 强自发荧光型黄斑病变
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0030483
hpo_term: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
chpo_term: 暗适应暗淡闪光视网膜电图振幅降低
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:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:618721):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82
Epileptic encephalopathy, early infantile, 82

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
Disease (OMIM:150270):
LARYNGEAL ADDUCTOR PARALYSIS
Laryngeal adductor paralysis

Associated phenotypes (HPO):
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617412):
Brachycephaly, trichomegaly, and developmental delay
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
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
Disease (OMIM:604308):
Mass syndrome
MASS SYNDROME

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
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:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (OMIM:613674):
Vesicoureteral reflux 3
VESICOURETERAL REFLUX 3

Associated phenotypes (HPO):
id: HP:0012572
hpo_term: Ureter duplex
chpo_term: 双重输尿管
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0033737
hpo_term: Grade III vesicoureteral reflux
chpo_term: III级膀胱输尿管反流
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0033741
hpo_term: Grade IV vesicoureteral reflux
chpo_term: IV级膀胱输尿管反流
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:603467):
Fanconi anemia, complementation group F
FANCONI ANEMIA, COMPLEMENTATION GROUP F

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011419
hpo_term: Placental abruption
chpo_term: 胎盘早剥
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
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:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
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:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
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:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:613112):
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
Macrothrombocytopenia, autosomal dominant, tubb1-related

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:106750):
Anonychia with flexural pigmentation
ANONYCHIA WITH FLEXURAL PIGMENTATION

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0007471
hpo_term: Axillary and groin hyperpigmentation and hypopigmentation
chpo_term: 腋窝和腹股沟部位色素沉着和色素减退
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:611705):
Congenital myopathy 5 with cardiomyopathy
SALIH MYOPATHY

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:0030059
hpo_term: Mitochondrial depletion
chpo_term: 线粒体DNA耗竭
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0011717
hpo_term: Atrioventricular reentrant tachycardia
chpo_term: 房室折返性心动过速
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (ORPHA:79414):
Wooly hair nevus
Woolly hair nevus

Associated phenotypes (HPO):
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0011365
hpo_term: Patchy hypopigmentation of hair
chpo_term: 斑片状毛发色素减退
id: HP:0040149
hpo_term: Woolly scalp hair
chpo_term: 羊毛状发
id: HP:0007534
hpo_term: Congenital posterior occipital alopecia
chpo_term: 先天性枕后脱发
id: HP:0034275
hpo_term: Verrucous epidermal nevus
chpo_term: 疣状表皮痣
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0006304
hpo_term: Widely-spaced incisors
chpo_term: 切牙间隙过宽
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
id: HP:0011387
hpo_term: Enlarged vestibular aqueduct
chpo_term: 前庭导水管扩大
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
Disease (ORPHA:199310):
Tetragametic chimerism syndrome
46,XX/46,XY chimerism

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0008723
hpo_term: Gonadal dysgenesis with female appearance, male
chpo_term: 男性性腺发育不全，女性外表
id: HP:0010459
hpo_term: True hermaphroditism
chpo_term: 真两性畸形
id: HP:0010970
hpo_term: Blood group antigen abnormality
chpo_term: 血型抗原异常
id: HP:0010987
hpo_term: Abnormal cellular immune system morphology
chpo_term: 细胞免疫系统形态异常
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0012861
hpo_term: Ovotestis
chpo_term: 卵睾（两性生殖腺）
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
Disease (ORPHA:393):
De la Chapelle syndrome
46,XX testicular disorder of sex development
46,XX testicular DSD
XX, male syndrome
46,XX testicular difference of sex development

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
Disease (ORPHA:396):
Chronic hiccup

Associated phenotypes (HPO):
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
Disease (ORPHA:392):
HOS
Heart-hand syndrome type 1
Holt-Oram syndrome
Atriodigital dysplasia type 1

Associated phenotypes (HPO):
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜