TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617349):
Aortic aneurysm, familial thoracic 11, susceptibility to
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0012499
hpo_term: Descending aortic dissection
chpo_term: 降主动脉夹层
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:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (OMIM:148370):
Keratolytic winter erythema
KERATOLYTIC WINTER ERYTHEMA

Associated phenotypes (HPO):
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
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
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:258865):
Orofaciodigital syndrome IX
OROFACIODIGITAL SYNDROME IX

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0005349
hpo_term: Hypoplasia of the epiglottis
chpo_term: 会厌发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
Disease (OMIM:187501):
TETRALOGY OF FALLOT AND GLAUCOMA
Tetralogy of Fallot and glaucoma

Associated phenotypes (HPO):
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614654):
COENZYME Q10 DEFICIENCY, PRIMARY, 5
Coenzyme Q10 deficiency, primary, 5

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0034369
hpo_term: Decreased level of coenzyme Q10 in skeletal muscle
chpo_term: 骨骼肌辅酶Q10水平降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:201910):
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:6000516
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000840
hpo_term: Adrenogenital syndrome
chpo_term: 肾上腺性征异常综合征
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
Disease (OMIM:612225):
Maturity-onset diabetes of the young, type IX
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9

Associated phenotypes (HPO):
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
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:0032368
hpo_term: Acidemia
chpo_term: 酸血症
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0040216
hpo_term: Hypoinsulinemia
chpo_term: 低胰岛素血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
Disease (OMIM:613885):
MECKEL SYNDROME, TYPE 8
Meckel syndrome, type 8

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0025700
hpo_term: Anhydramnios
chpo_term: 无羊水
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:604321):
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
Microcephaly 4, primary, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
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:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:607628):
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
Epilepsy with grand mal seizures on awakening

Associated phenotypes (HPO):
id: HP:0007193
hpo_term: Bilateral tonic-clonic seizure on awakening
chpo_term: 觉醒期双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:131880):
EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase

Associated phenotypes (HPO):
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:166700):
BUSCHKE-OLLENDORFF SYNDROME
Buschke-Ollendorff syndrome

Associated phenotypes (HPO):
id: HP:0010739
hpo_term: Osteopoikilosis
chpo_term: 骨斑点症
id: HP:0010816
hpo_term: Epidermal nevus
chpo_term: 表皮痣
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:6000943
id: HP:0100898
hpo_term: Connective tissue nevi
chpo_term: 结缔组织痣
id: HP:6000817
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211530):
BROWN-VIALETTO-VAN LAERE SYNDROME 1
Brown-Vialetto-Van Laere syndrome 1

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0007097
hpo_term: Cranial nerve motor loss
chpo_term: 颅神经运动功能丧失
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
Disease (OMIM:614867):
Peroxisome biogenesis disorder 5B
PEROXISOME BIOGENESIS DISORDER 5B

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0010571
hpo_term: Elevated levels of phytanic acid
chpo_term: 植烷酸水平升高
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:301051):
IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED
Immunodeficiency 74, COVID19-related, X-linked

Associated phenotypes (HPO):
id: HP:0033141
hpo_term: Severe SARS-CoV-2 infection
chpo_term: 严重的 SARS-CoV-2 感染
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
Disease (OMIM:618091):
Spermatogenic failure 29
SPERMATOGENIC FAILURE 29

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:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
Disease (OMIM:301045):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
Congenital disorder of glycosylation, type IIr

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
Disease (OMIM:614873):
PEROXISOME BIOGENESIS DISORDER 7B
Peroxisome biogenesis disorder 7B

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:251100):
METHYLMALONIC ACIDURIA, cblA TYPE
Methylmalonic aciduria, vitamin B12-responsive, cblA type

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003210
hpo_term: Decreased methylmalonyl-CoA mutase activity
chpo_term: 甲基丙二酰辅酶A变位酶活性降低
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0031962
hpo_term: Elevated serum anion gap
chpo_term: 血清阴离子间隙升高
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0034661
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0034662
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
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:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002912
hpo_term: Methylmalonic acidemia
chpo_term: 甲基丙二酸血症
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003145
hpo_term: Decreased adenosylcobalamin
chpo_term: 腺苷钴胺素减少
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0040126
hpo_term: Abnormal vitamin B12 level
chpo_term: 血清钴胺素异常
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:174310):
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
Polydactyly, postaxial, with progressive myopia

Associated phenotypes (HPO):
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:616902):
CHROMOSOME 11p13 DELETION SYNDROME, DISTAL
Chromosome 11P13 deletion syndrome, distal

Associated phenotypes (HPO):
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:137215):
Gastric cancer, hereditary diffuse
GASTRIC CANCER, HEREDITARY DIFFUSE

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:618907):
SILVER-RUSSELL SYNDROME 4
Silver-Russell syndrome 4

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003561
hpo_term: Birth length less than 3rd percentile
chpo_term: 出生身长小于第3百分位数
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
Disease (OMIM:620240):
DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES
Developmental delay with hypotonia, myopathy, and brain abnormalities

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形