TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616546):
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Short-Rib thoracic dysplasia 14 with polydactyly

Associated phenotypes (HPO):
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0002436
hpo_term: Occipital meningocele
chpo_term: 枕脊膜膨出
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0032466
hpo_term: Aplasia of the olfactory bulb
chpo_term: 嗅球不发育
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:211960):
CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES
Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases

Associated phenotypes (HPO):
id: HP:0005689
hpo_term: Dermatoglyphic ridges abnormal
chpo_term: 皮纹脊异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0010487
hpo_term: Small hypothenar eminence
chpo_term: 小鱼际小
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
Disease (OMIM:115200):
CARDIOMYOPATHY, DILATED, 1A
Cardiomyopathy, dilated, 1A

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
Disease (OMIM:191100):
TUBEROUS SCLEROSIS 1
Tuberous sclerosis-1

Associated phenotypes (HPO):
id: HP:0009717
hpo_term: Cortical tubers
chpo_term: 皮质结节
id: HP:0009716
hpo_term: Subependymal nodules
chpo_term: 室管膜下结节
id: HP:0009719
hpo_term: Hypomelanotic macule
chpo_term: 色素脱失斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0010762
hpo_term: Chordoma
chpo_term: 脊索瘤
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0009722
hpo_term: Dental enamel pits
chpo_term: 牙釉质凹陷
id: HP:0200024
hpo_term: Premature chromatid separation
chpo_term: 姐妹染色单体过早分离
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0009724
hpo_term: Subungual fibromas
chpo_term: 甲下纤维瘤
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009727
hpo_term: Achromatic retinal patches
chpo_term: 无色素性视网膜斑块
id: HP:0010615
hpo_term: Angiofibromas
chpo_term: 血管纤维瘤
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0009554
hpo_term: Preauricular hair displacement
chpo_term: 耳前毛发移位
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619113):
COACH syndrome 3
COACH SYNDROME 3

Associated phenotypes (HPO):
id: HP:0032945
hpo_term: Renal interstitial inflammation
chpo_term: 间质性肾炎
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0032948
hpo_term: Renal interstitial fibrosis
chpo_term: 肾间质纤维化
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
Disease (OMIM:616220):
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
Focal segmental glomerulosclerosis 9

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
Disease (OMIM:620792):
OTOSCLEROSIS 12
Otosclerosis 12

Associated phenotypes (HPO):
id: HP:0000362
hpo_term: Otosclerosis
chpo_term: 耳硬化症
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610651):
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
Xeroderma pigmentosum, complementation group B

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0003224
hpo_term: Increased cellular sensitivity to UV light
chpo_term: 对紫外光的细胞敏感度增强
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
Disease (OMIM:158300):
Arthrogryposis, distal, type 7
ARTHROGRYPOSIS, DISTAL, TYPE 7

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0400000
hpo_term: Tall chin
chpo_term: 高下巴
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:613370):
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
Maturity-onset diabetes of the young, type 10

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001953
hpo_term: Diabetic ketoacidosis
chpo_term: 糖尿病酮症酸中毒
Disease (OMIM:130080):
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
Ehlers-Danlos syndrome, periodontal type, 1

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0034518
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0030816
hpo_term: Gingival recession
chpo_term: 牙龈退缩
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0034517
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0410027
hpo_term: Alveolar bone loss around teeth
chpo_term: 牙周的牙槽骨萎缩
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:616208):
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617116):
Epilepsy, familial focal, with variable foci 2
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618225):
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
Mitochondrial complex I deficiency, nuclear type 4

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:608988):
ATRIAL FIBRILLATION, FAMILIAL, 2
Atrial fibrillation, familial, 2

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300851):
MENTAL RETARDATION, X-LINKED 92
Mental retardation, X-linked 92

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:605274):
Mesomelic dysplasia, Savarirayan type
MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0005852
hpo_term: Limited elbow extension and supination
chpo_term: 肘部伸展和旋后受限
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0005773
hpo_term: Short forearm
chpo_term: 前臂短
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0006390
hpo_term: Anterior tibial bowing
chpo_term: 胫骨向前弯曲
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004987
hpo_term: Mesomelic leg shortening
chpo_term: 腿中段缩短
Disease (OMIM:114650):
Car factor deficiency
CAR FACTOR DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615067):
CILIARY DYSKINESIA, PRIMARY, 20
Ciliary dyskinesia, primary, 20

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0011538
hpo_term: Atrial situs inversus
chpo_term: 心房左右转位
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614379):
Complement component 4B deficiency
COMPLEMENT COMPONENT 4B DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0045044
hpo_term: Decreased serum complement C4b
chpo_term: 血清补体 C4b 降低
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0200120
hpo_term: Chronic active hepatitis
chpo_term: 慢性活动性肝炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:615073):
Dystonia 25
DYSTONIA 25

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0031008
hpo_term: Lingual dystonia
chpo_term: 舌肌肌张力障碍
Disease (OMIM:250900):
METHIONINE MALABSORPTION SYNDROME
Methionine malabsorption syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003612
hpo_term: Positive ferric chloride test
chpo_term: 三氯化铁试验阳性